1. A case report describes a previously healthy girl who developed multiple functional symptoms at age 10 after a stomach flu. She was diagnosed with probable mitochondrial disease.
2. She later developed additional issues including severe anemia and life-threatening shock-like episodes. Local doctors could not identify a cause. Suspected medical child abuse was reported twice.
3. The patient was held against her will for months in another state and treatment was stopped. Her condition deteriorated. Genetic testing later revealed mutations contributing to her various conditions. She stabilized with treatment and no further legal issues.
1) Sally Clark spent 3.5 years in jail after being wrongly convicted of murdering her two babies. However, her second baby Harry was given several vaccines just 5 hours before he died suddenly.
2) The vaccines Harry received, including the DTP vaccine, are known to potentially cause serious and life-threatening reactions in babies. However, the defense did not mention immunization as a possible cause of death at her trial.
3) Rates of autism diagnoses have increased dramatically in both the UK and US in recent decades. Some experts argue this may be linked to changes in vaccination schedules in the 1990s that increased toxic exposures for babies.
1) The document discusses several cases of infants who experienced fractures, retinal hemorrhages, and brain injuries. In each case, the injuries were attributed to Shaken Baby Syndrome but the author argues they were actually due to an autoimmune response triggered by vaccination or infection.
2) The author's hypothesis is that vaccination or infection damages the beta cells in the pancreas, causing hypoinsulinemia. This inhibits cellular uptake of vitamin C, leading to "tissue scurvy" and failure of proteins involved in coagulation. This results in the bruising, bleeding, and fractures seen in the "triad".
3) Blood tests in the cases showed markers of coagulation disorders, vitamin deficiencies, and
This document summarizes Leigh syndrome, a rare neurological disorder caused by defects in mitochondrial energy production. It describes Dr. Denis Leigh's original 1951 case report that defined the syndrome. Over time, MRI and genetic testing allowed diagnosis of different mitochondrial disorders collectively termed Leigh syndrome. Current understanding is that Leigh syndrome has various genetic causes but commonly involves symmetrical brain lesions and early developmental regression. No effective treatments exist but research continues into therapies like idebenone, sodium pyruvate, and rapamycin.
1. A clinical case round document outlines rules and questions for a competition involving diagnosis of patient cases.
2. Six clinical cases are presented involving patients with conditions such as cavernous sinus thrombosis, neuromyelitis optica, hemophagocytic lymphohistiocytosis, gonorrhea, viral myocarditis, and viral hepatitis.
3. For each case, teams must make a diagnosis to earn points and have the opportunity to answer additional questions about treatment and pathophysiology.
The document discusses unexplained fractures in children that may indicate brittle bone disease rather than non-accidental injury. It summarizes 128 cases referred to the author related to unexplained fractures in children living in the UK. In many cases, the author determined the children had forms of brittle bone disease like osteogenesis imperfecta or temporary brittle bone disease. For those returned to parents, no subsequent evidence of non-accidental injury was found in long-term follow-ups of over 400 patient-years. The document concludes some rare cases of brittle bone disease can be difficult to diagnose but falsely accusing parents of abuse in such cases can cause significant harm to families.
This document contains a series of multiple choice questions related to pediatric neurology. It covers topics like cerebrospinal fluid findings in different conditions, genetic disorders presenting with floppy babies, developmental milestones, seizures types and their characteristics, inborn errors of metabolism, cerebral palsy subtypes and their causes. The questions assess knowledge on clinical features, investigations, management and genetics of various pediatric neurological disorders.
Daniel, a 1-year-old boy, had been experiencing frequent bacterial infections. Testing revealed he had very low levels of IgG, IgA, and IgE antibodies and high levels of IgM and IgD. The doctor determined Daniel had X-linked agammaglobulinemia with hyper-IgM syndrome due to a mutation preventing the CD40 ligand on T cells from binding to and activating the CD40 receptor on B cells, inhibiting immunoglobulin class switching. Treatment involves monthly IgG infusions, but a bone marrow transplant from a matching sibling could cure him. Susan and Joe decided to have more children to potentially help Daniel through donation or prenatal testing to select an HLA-matched child.
This document presents two case reports of infants who experienced apparent life-threatening events (ALTEs) and were diagnosed with shaken baby syndrome (SBS). However, the author argues that vitamin C deficiency, known as Barlow's disease, could explain many of the clinical findings in the infants, including hemorrhages, bruises, and fractures. The author notes several factors that could have predisposed the infants to vitamin C deficiency and discusses how this deficiency could account for their symptoms rather than SBS. The document aims to explore alternate explanations for the diagnoses of SBS in these cases.
1) Sally Clark spent 3.5 years in jail after being wrongly convicted of murdering her two babies. However, her second baby Harry was given several vaccines just 5 hours before he died suddenly.
2) The vaccines Harry received, including the DTP vaccine, are known to potentially cause serious and life-threatening reactions in babies. However, the defense did not mention immunization as a possible cause of death at her trial.
3) Rates of autism diagnoses have increased dramatically in both the UK and US in recent decades. Some experts argue this may be linked to changes in vaccination schedules in the 1990s that increased toxic exposures for babies.
1) The document discusses several cases of infants who experienced fractures, retinal hemorrhages, and brain injuries. In each case, the injuries were attributed to Shaken Baby Syndrome but the author argues they were actually due to an autoimmune response triggered by vaccination or infection.
2) The author's hypothesis is that vaccination or infection damages the beta cells in the pancreas, causing hypoinsulinemia. This inhibits cellular uptake of vitamin C, leading to "tissue scurvy" and failure of proteins involved in coagulation. This results in the bruising, bleeding, and fractures seen in the "triad".
3) Blood tests in the cases showed markers of coagulation disorders, vitamin deficiencies, and
This document summarizes Leigh syndrome, a rare neurological disorder caused by defects in mitochondrial energy production. It describes Dr. Denis Leigh's original 1951 case report that defined the syndrome. Over time, MRI and genetic testing allowed diagnosis of different mitochondrial disorders collectively termed Leigh syndrome. Current understanding is that Leigh syndrome has various genetic causes but commonly involves symmetrical brain lesions and early developmental regression. No effective treatments exist but research continues into therapies like idebenone, sodium pyruvate, and rapamycin.
1. A clinical case round document outlines rules and questions for a competition involving diagnosis of patient cases.
2. Six clinical cases are presented involving patients with conditions such as cavernous sinus thrombosis, neuromyelitis optica, hemophagocytic lymphohistiocytosis, gonorrhea, viral myocarditis, and viral hepatitis.
3. For each case, teams must make a diagnosis to earn points and have the opportunity to answer additional questions about treatment and pathophysiology.
The document discusses unexplained fractures in children that may indicate brittle bone disease rather than non-accidental injury. It summarizes 128 cases referred to the author related to unexplained fractures in children living in the UK. In many cases, the author determined the children had forms of brittle bone disease like osteogenesis imperfecta or temporary brittle bone disease. For those returned to parents, no subsequent evidence of non-accidental injury was found in long-term follow-ups of over 400 patient-years. The document concludes some rare cases of brittle bone disease can be difficult to diagnose but falsely accusing parents of abuse in such cases can cause significant harm to families.
This document contains a series of multiple choice questions related to pediatric neurology. It covers topics like cerebrospinal fluid findings in different conditions, genetic disorders presenting with floppy babies, developmental milestones, seizures types and their characteristics, inborn errors of metabolism, cerebral palsy subtypes and their causes. The questions assess knowledge on clinical features, investigations, management and genetics of various pediatric neurological disorders.
Daniel, a 1-year-old boy, had been experiencing frequent bacterial infections. Testing revealed he had very low levels of IgG, IgA, and IgE antibodies and high levels of IgM and IgD. The doctor determined Daniel had X-linked agammaglobulinemia with hyper-IgM syndrome due to a mutation preventing the CD40 ligand on T cells from binding to and activating the CD40 receptor on B cells, inhibiting immunoglobulin class switching. Treatment involves monthly IgG infusions, but a bone marrow transplant from a matching sibling could cure him. Susan and Joe decided to have more children to potentially help Daniel through donation or prenatal testing to select an HLA-matched child.
This document presents two case reports of infants who experienced apparent life-threatening events (ALTEs) and were diagnosed with shaken baby syndrome (SBS). However, the author argues that vitamin C deficiency, known as Barlow's disease, could explain many of the clinical findings in the infants, including hemorrhages, bruises, and fractures. The author notes several factors that could have predisposed the infants to vitamin C deficiency and discusses how this deficiency could account for their symptoms rather than SBS. The document aims to explore alternate explanations for the diagnoses of SBS in these cases.
After watching this lecture, learners will be able to:
Describe the various etiologies of non-traumatic paralysis
Illustrate the neuro exam for the paralyzed patient
Recognize the signs and symptoms of acute peripheral neuropathies
Explain the treatment of acute peripheral neuropathies
Here are the key concepts needed to work through the growth problems cases:
- Phases of childhood growth: infancy, childhood, adolescent growth spurt
- Fusion of epiphyses and its role in limiting final adult height
- Precocious and delayed puberty definitions
- Tanner staging of pubertal development
- Orchidometer for testicular volume assessment
- Measurement of height and height velocity
- Estimation of final adult height from mid-parental height
- Features of Turner syndrome
Understanding these concepts will help in formulating differential diagnoses, guiding appropriate history taking and examinations, and selecting investigations. Let me know if you need any clarification or have additional questions!
Pediatric Arab Board MCQ Review - Emergency Medicine Fatima Farid
A pediatric emergency medicine board review document was provided containing questions and answers related to pediatric toxicology, electrolyte abnormalities, burns, foreign body ingestion/aspiration, and allergic reactions. Some key points:
- Question 1 asked about prognostic markers in non-fatal drowning, with the answer being development of a seizure is not considered an unfavorable marker.
- Question 2 asked about the most common cause of poisoning in childhood, with the answer being aspirin.
- Question 3 asked about the most common cause of fatal poisoning in children, with the answer being organophosphates.
- There were also questions related to the management of button battery ingestion, hypercalcemia, alcohol
A 4-year old girl presented with recurrent anaemia, rash, hepatosplenomegaly, and failure to thrive. Examinations found dysmorphic features, lymphadenopathy, and delayed development. Investigations showed pneumonitis, skin inflammation, liver granuloma, and bone marrow fibrosis. T- and B-cell lypopaenia suggested primary immunodeficiency, likely severe combined immunodeficiency (SCID). She received transfusions, antibiotics, antituberculosis treatment, and IV immunoglobulin. Bone marrow transplant is the cure for SCID but she was lost to follow up after discharge.
1. Findings in this x-ray: Bilateral coalesced opacities in upper and mid zones.
2. Two important conditions which produce similar findings: Pulmonary tuberculosis, pneumonia.
3. To differentiate radiologically: In tuberculosis, opacities are more dense and cavitation is seen. In pneumonia, opacities are less dense and consolidation is seen.
4. Hematological problems that can occur: Anemia due to chronic disease, thrombocytopenia.
1. Duchenne muscular dystrophy is an X-linked recessive genetic disorder that causes progressive muscle weakness in boys. It is characterized by muscle degeneration and affects 1 in 3,600 male births.
2. Genetic counseling for DMD involves 5 steps - reaching a diagnosis through family history, examinations, and tests; assessing recurrence risks; communicating the condition; discussing options; and providing long-term support.
3. Prenatal diagnosis methods like amniocentesis and ultrasound can determine if a male fetus is affected to allow couples to prepare or consider alternatives like abortion or adoption.
This document describes 5 patients who developed infantile spasms after experiencing neonatal-onset hyperinsulinemic hypoglycemia (HH). All 5 patients initially presented with HH in the neonatal period, which was treated with diazoxide. After a variable latent period, all 5 patients then developed infantile spasms between 5 months and 1.2 years of age. The spasms responded variably to treatment with antiepileptic drugs. All patients showed developmental delays, and brain imaging found abnormalities in only 1 of the 4 patients who received MRIs. The authors conclude that hypoglycemic brain injury from neonatal HH, even if treated, can later manifest as infantile spasms after a latent period.
This document discusses the case of Julie Baumer, who was convicted in 2005 of abusing her nephew based on a diagnosis of Shaken Baby Syndrome (SBS) but was later acquitted in 2010. It provides background on the development of SBS as a diagnosis and the current medical debate around it. The author argues that many defendants are unable to properly challenge SBS evidence in court and proposes the creation of SBS Review Panels that would review past convictions and medical evidence in cases where SBS was a factor to identify potential wrongful convictions.
This document summarizes research on prion diseases like Creutzfeldt-Jakob disease (CJD). It discusses the causes of prion diseases including genetic mutations and spontaneous misfolding. The document outlines the clinical diagnosis and tests used to diagnose CJD. It also describes recent investigational treatments for CJD like quinacrine, pentosan polysulfate, and doxycycline. Finally, it provides an overview of resources for patients and their families dealing with prion diseases.
This document provides an overview of the Feeding Program at Penn State Children's Hospital. It describes the program's goal of helping children with feeding and nutritional problems. It then highlights the story of Tinalee Cahill, an Irish girl who was unable to eat solid foods or speak and was dependent on a feeding tube. Through the Feeding Program, Tinalee was able to begin eating solid foods again and come off her feeding tube within a month of intensive treatment. The program offers inpatient, outpatient, and home-based services to help children with a variety of feeding issues and get the nutrition they need.
Deletion 17q12 recurrent copy number variant ashadeep chandrareddy daniel d...surabhisupraja
This document summarizes a study that found a recurrent 1.4 Mb deletion at chromosome 17q12 in patients with autism spectrum disorder (ASD) or schizophrenia, but not in controls. The deletion removes the HNF1B gene. In a follow up sample of over 8,000 patients and nearly 48,000 controls, the deletion was identified in patients with ASD/neurocognitive impairment and schizophrenia, but not controls. Clinical assessment of nine patients found features including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. This provides further evidence that rare copy number variants can contribute to both ASD and schizophrenia, and that one or more genes in the 17q12 region are important
Gene therapy involves genetically modifying cells to treat or alleviate disease. The first approved gene therapy in 1990 treated a child with ADA-SCID. Since then, research has focused on improving delivery methods and targeting different cell types and diseases. Recent successes include using gene therapy to cure blindness caused by a specific genetic condition and reduce Parkinson's disease symptoms. However, challenges remain regarding safety and achieving long-term effects.
- The 77-year old female patient was admitted to the hospital for vomiting blood and abdominal pain. She suffered from multiple comorbidities and underwent several surgeries previously.
- During her 13-day hospital stay, she developed several complications including ileus, sepsis, pneumonia, and small bowel obstruction. Her condition continued to decline despite treatment.
- She passed away after being placed on comfort care measures only. Her complex medical history and multiple postoperative complications ultimately led to her death.
The document discusses several medical cases:
1. A case of lissencephaly with findings of absent cerebral convolutions and enlarged ventricles, associated with Miller-Dieker syndrome.
2. A case of tuberous sclerosis seen on CT with subependymal calcifications consistent with the condition and associated with angiomyolipomas.
3. Uses and complications of PICC lines including thrombosis, fracture, embolism, infection, leakage and DVT are discussed.
Here are the first 5 steps in managing a newborn presenting with seizures on day 2 of life:
1. Ensure patent airway and provide oxygen via mask or endotracheal tube if needed.
2. Start IV access and obtain blood for glucose, calcium, magnesium, blood gas, CBC, CRP levels.
3. Give 10% dextrose bolus if hypoglycemia suspected.
4. Give phenobarbitone 20mg/kg loading dose if seizures persist after correction of hypoglycemia.
5. Start antibiotics like ampicillin and gentamicin to cover for sepsis until culture reports are available.
1. The child presents with abdominal pain, fever, and decreased appetite for 13 days. Examination finds a coated tongue.
2. The most likely diagnosis is enteric fever. Investigations include blood culture, Widal test, and bone marrow culture. Complications are intestinal hemorrhage, perforation, encephalopathy, and sepsis.
3. There is a typhoid vaccine of purified Vi antigen in a single 0.5ml dose with booster doses every two years.
This document discusses two medical cases presented in the Index of Suspicion column of Pediatrics in Review. Case 1 involves a 17-year-old girl with intermittent right arm swelling and pain over 2 years. After extensive testing, she was diagnosed with complex regional pain syndrome type 1 (CRPS). CRPS is caused by autonomic nervous system disruption and is characterized by severe pain, swelling, and skin changes. Case 2 presents a 7-year-old girl with a tender nodule behind her left ear. Imaging and biopsies confirmed the diagnosis.
Macroglossia, omphalocele, gigantism, ear creases/pits, neonatal hypoglycemia.
c. What is the genetic basis? 0.5
Epigenetic alteration involving chromosome 11p15.5 leading to overexpression of IGF2.
d. What is the long term risk? 0.5
Wilms tumor, hepatoblastoma, adrenocortical carcinoma and rhabdomyosarcoma.
This document contains a knowledge check for a nursing course. It includes 14 scenarios covering various medical conditions and asks questions related to each scenario. The scenarios cover topics like acute lymphoblastic leukemia, sickle cell disease, hemophilia, myelomeningocele, patent ductus arteriosus, lead poisoning, sudden infant death syndrome, Kawasaki disease, asthma, cystic fibrosis, idiopathic scoliosis, hemolytic uremic syndrome, pituitary dwarfism, and osteogenesis imperfecta. For each scenario, students are asked 1-2 questions testing their understanding of the condition's presentation, pathophysiology, diagnosis, or management. Responses of at least 2-4 sentences in length are required.
This document summarizes two cases that occurred simultaneously in a neonatal intensive care unit (NICU) to illustrate cultural influences on complex medical decision making. Case 1 involved a neonate with severe genetic anomalies born to first cousins from South Asia. Case 2 involved a neonate prenatally diagnosed with campomelic dysplasia born to an unmarried African American couple with an unstable relationship. Both cases involved communication barriers between families and NICU staff due to misunderstandings of cultural and social factors, resulting in delayed care decisions and potential exacerbation of suffering. The document discusses the impact of consanguinity, social and family structures, and suggests strategies for improving communication and decision making in similar complex cases.
After watching this lecture, learners will be able to:
Describe the various etiologies of non-traumatic paralysis
Illustrate the neuro exam for the paralyzed patient
Recognize the signs and symptoms of acute peripheral neuropathies
Explain the treatment of acute peripheral neuropathies
Here are the key concepts needed to work through the growth problems cases:
- Phases of childhood growth: infancy, childhood, adolescent growth spurt
- Fusion of epiphyses and its role in limiting final adult height
- Precocious and delayed puberty definitions
- Tanner staging of pubertal development
- Orchidometer for testicular volume assessment
- Measurement of height and height velocity
- Estimation of final adult height from mid-parental height
- Features of Turner syndrome
Understanding these concepts will help in formulating differential diagnoses, guiding appropriate history taking and examinations, and selecting investigations. Let me know if you need any clarification or have additional questions!
Pediatric Arab Board MCQ Review - Emergency Medicine Fatima Farid
A pediatric emergency medicine board review document was provided containing questions and answers related to pediatric toxicology, electrolyte abnormalities, burns, foreign body ingestion/aspiration, and allergic reactions. Some key points:
- Question 1 asked about prognostic markers in non-fatal drowning, with the answer being development of a seizure is not considered an unfavorable marker.
- Question 2 asked about the most common cause of poisoning in childhood, with the answer being aspirin.
- Question 3 asked about the most common cause of fatal poisoning in children, with the answer being organophosphates.
- There were also questions related to the management of button battery ingestion, hypercalcemia, alcohol
A 4-year old girl presented with recurrent anaemia, rash, hepatosplenomegaly, and failure to thrive. Examinations found dysmorphic features, lymphadenopathy, and delayed development. Investigations showed pneumonitis, skin inflammation, liver granuloma, and bone marrow fibrosis. T- and B-cell lypopaenia suggested primary immunodeficiency, likely severe combined immunodeficiency (SCID). She received transfusions, antibiotics, antituberculosis treatment, and IV immunoglobulin. Bone marrow transplant is the cure for SCID but she was lost to follow up after discharge.
1. Findings in this x-ray: Bilateral coalesced opacities in upper and mid zones.
2. Two important conditions which produce similar findings: Pulmonary tuberculosis, pneumonia.
3. To differentiate radiologically: In tuberculosis, opacities are more dense and cavitation is seen. In pneumonia, opacities are less dense and consolidation is seen.
4. Hematological problems that can occur: Anemia due to chronic disease, thrombocytopenia.
1. Duchenne muscular dystrophy is an X-linked recessive genetic disorder that causes progressive muscle weakness in boys. It is characterized by muscle degeneration and affects 1 in 3,600 male births.
2. Genetic counseling for DMD involves 5 steps - reaching a diagnosis through family history, examinations, and tests; assessing recurrence risks; communicating the condition; discussing options; and providing long-term support.
3. Prenatal diagnosis methods like amniocentesis and ultrasound can determine if a male fetus is affected to allow couples to prepare or consider alternatives like abortion or adoption.
This document describes 5 patients who developed infantile spasms after experiencing neonatal-onset hyperinsulinemic hypoglycemia (HH). All 5 patients initially presented with HH in the neonatal period, which was treated with diazoxide. After a variable latent period, all 5 patients then developed infantile spasms between 5 months and 1.2 years of age. The spasms responded variably to treatment with antiepileptic drugs. All patients showed developmental delays, and brain imaging found abnormalities in only 1 of the 4 patients who received MRIs. The authors conclude that hypoglycemic brain injury from neonatal HH, even if treated, can later manifest as infantile spasms after a latent period.
This document discusses the case of Julie Baumer, who was convicted in 2005 of abusing her nephew based on a diagnosis of Shaken Baby Syndrome (SBS) but was later acquitted in 2010. It provides background on the development of SBS as a diagnosis and the current medical debate around it. The author argues that many defendants are unable to properly challenge SBS evidence in court and proposes the creation of SBS Review Panels that would review past convictions and medical evidence in cases where SBS was a factor to identify potential wrongful convictions.
This document summarizes research on prion diseases like Creutzfeldt-Jakob disease (CJD). It discusses the causes of prion diseases including genetic mutations and spontaneous misfolding. The document outlines the clinical diagnosis and tests used to diagnose CJD. It also describes recent investigational treatments for CJD like quinacrine, pentosan polysulfate, and doxycycline. Finally, it provides an overview of resources for patients and their families dealing with prion diseases.
This document provides an overview of the Feeding Program at Penn State Children's Hospital. It describes the program's goal of helping children with feeding and nutritional problems. It then highlights the story of Tinalee Cahill, an Irish girl who was unable to eat solid foods or speak and was dependent on a feeding tube. Through the Feeding Program, Tinalee was able to begin eating solid foods again and come off her feeding tube within a month of intensive treatment. The program offers inpatient, outpatient, and home-based services to help children with a variety of feeding issues and get the nutrition they need.
Deletion 17q12 recurrent copy number variant ashadeep chandrareddy daniel d...surabhisupraja
This document summarizes a study that found a recurrent 1.4 Mb deletion at chromosome 17q12 in patients with autism spectrum disorder (ASD) or schizophrenia, but not in controls. The deletion removes the HNF1B gene. In a follow up sample of over 8,000 patients and nearly 48,000 controls, the deletion was identified in patients with ASD/neurocognitive impairment and schizophrenia, but not controls. Clinical assessment of nine patients found features including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. This provides further evidence that rare copy number variants can contribute to both ASD and schizophrenia, and that one or more genes in the 17q12 region are important
Gene therapy involves genetically modifying cells to treat or alleviate disease. The first approved gene therapy in 1990 treated a child with ADA-SCID. Since then, research has focused on improving delivery methods and targeting different cell types and diseases. Recent successes include using gene therapy to cure blindness caused by a specific genetic condition and reduce Parkinson's disease symptoms. However, challenges remain regarding safety and achieving long-term effects.
- The 77-year old female patient was admitted to the hospital for vomiting blood and abdominal pain. She suffered from multiple comorbidities and underwent several surgeries previously.
- During her 13-day hospital stay, she developed several complications including ileus, sepsis, pneumonia, and small bowel obstruction. Her condition continued to decline despite treatment.
- She passed away after being placed on comfort care measures only. Her complex medical history and multiple postoperative complications ultimately led to her death.
The document discusses several medical cases:
1. A case of lissencephaly with findings of absent cerebral convolutions and enlarged ventricles, associated with Miller-Dieker syndrome.
2. A case of tuberous sclerosis seen on CT with subependymal calcifications consistent with the condition and associated with angiomyolipomas.
3. Uses and complications of PICC lines including thrombosis, fracture, embolism, infection, leakage and DVT are discussed.
Here are the first 5 steps in managing a newborn presenting with seizures on day 2 of life:
1. Ensure patent airway and provide oxygen via mask or endotracheal tube if needed.
2. Start IV access and obtain blood for glucose, calcium, magnesium, blood gas, CBC, CRP levels.
3. Give 10% dextrose bolus if hypoglycemia suspected.
4. Give phenobarbitone 20mg/kg loading dose if seizures persist after correction of hypoglycemia.
5. Start antibiotics like ampicillin and gentamicin to cover for sepsis until culture reports are available.
1. The child presents with abdominal pain, fever, and decreased appetite for 13 days. Examination finds a coated tongue.
2. The most likely diagnosis is enteric fever. Investigations include blood culture, Widal test, and bone marrow culture. Complications are intestinal hemorrhage, perforation, encephalopathy, and sepsis.
3. There is a typhoid vaccine of purified Vi antigen in a single 0.5ml dose with booster doses every two years.
This document discusses two medical cases presented in the Index of Suspicion column of Pediatrics in Review. Case 1 involves a 17-year-old girl with intermittent right arm swelling and pain over 2 years. After extensive testing, she was diagnosed with complex regional pain syndrome type 1 (CRPS). CRPS is caused by autonomic nervous system disruption and is characterized by severe pain, swelling, and skin changes. Case 2 presents a 7-year-old girl with a tender nodule behind her left ear. Imaging and biopsies confirmed the diagnosis.
Macroglossia, omphalocele, gigantism, ear creases/pits, neonatal hypoglycemia.
c. What is the genetic basis? 0.5
Epigenetic alteration involving chromosome 11p15.5 leading to overexpression of IGF2.
d. What is the long term risk? 0.5
Wilms tumor, hepatoblastoma, adrenocortical carcinoma and rhabdomyosarcoma.
This document contains a knowledge check for a nursing course. It includes 14 scenarios covering various medical conditions and asks questions related to each scenario. The scenarios cover topics like acute lymphoblastic leukemia, sickle cell disease, hemophilia, myelomeningocele, patent ductus arteriosus, lead poisoning, sudden infant death syndrome, Kawasaki disease, asthma, cystic fibrosis, idiopathic scoliosis, hemolytic uremic syndrome, pituitary dwarfism, and osteogenesis imperfecta. For each scenario, students are asked 1-2 questions testing their understanding of the condition's presentation, pathophysiology, diagnosis, or management. Responses of at least 2-4 sentences in length are required.
This document summarizes two cases that occurred simultaneously in a neonatal intensive care unit (NICU) to illustrate cultural influences on complex medical decision making. Case 1 involved a neonate with severe genetic anomalies born to first cousins from South Asia. Case 2 involved a neonate prenatally diagnosed with campomelic dysplasia born to an unmarried African American couple with an unstable relationship. Both cases involved communication barriers between families and NICU staff due to misunderstandings of cultural and social factors, resulting in delayed care decisions and potential exacerbation of suffering. The document discusses the impact of consanguinity, social and family structures, and suggests strategies for improving communication and decision making in similar complex cases.
A ten-year-old boy is brought to clinic by his mother who stat.docxmakdul
A ten-year-old boy is brought to clinic by his mother who states that the boy has been listless and not eating. She also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen. Maternal history negative for pre, intra, or post-partum problems. Child’s past medical history negative and he easily reached developmental milestones. Physical exam reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. The APRN orders complete blood count (CBC), and complete metabolic profile (CMP). The CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. The APRN recognizes that the patient appears to have acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his mother. The diagnosis of acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question 1 of 2:
What is ALL?
--
QUESTION 2
A ten-year-old boy is brought to clinic by his mother who states that the boy has been listless and not eating. She also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen. Maternal history negative for pre, intra, or post-partum problems. Child’s past medical history negative and he easily reached developmental milestones. Physical exam reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern. The APRN orders complete blood count (CBC), and complete metabolic profile (CMP). The CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl. The APRN recognizes that the patient appears to have acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his mother. The diagnosis of acute lymphoblastic leukemia (ALL) was made after extensive testing.
Question 2 of 2:
How does renal failure occur in some patients with ALL?
QUESTION 3
A 12-year-old female with known sickle cell disease (SCD) present to the Emergency Room in sickle cell crisis. The patient is crying with pain and states this is the third acute episode she has had in the last nine months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made. Appropriate therapeutic interventions were initiated by the APRN and the patient’s pain level decreased, and she was transferre.
This document discusses battered baby syndrome and related topics. It defines battered baby syndrome as repetitive physical injuries to a child caused by non-accidental violence from a parent or guardian. It describes features like common ages and characteristics of the children and parents. It outlines signs of abuse like injuries in different healing stages and vague histories from parents. It compares accidental versus non-accidental injuries and details various types of injuries seen in abused children like burns, fractures, and internal injuries. It also discusses related topics like sudden infant death syndrome, Munchausen syndrome by proxy, and precipitate labor.
MN551-1 Integrate knowledge of advanced physiology and pathophysi.docxjacmariek5
MN551-1:
Integrate knowledge of advanced physiology and pathophysiology across the lifespan with the clinical implications for the advanced practice nurse.
ONLY ADDRESS CASE 1!!!!!
Case Study: Cell Biology and Genetics
Below are several case studies. Your instructor will either assign you a case study or have you select one. If all of the case studies have not been covered, your instructor may assign a case study that no one has covered. Be sure to integrate your knowledge of advanced physiology and pathophysiology across the lifespan with the clinical implications for the advanced practice nurse.
Case Study Posting Requirements
1.
Make sure all of the topics in the case study have been addressed.
2.
Cite at least three sources; journal articles, textbooks, or evidenced-based websites to support the content.
3.
All sources must be within five years.
4.
Do not use .com, Wikipedia, or up-to-date, etc., for your sources.
Case Study 1
Marsha and Clement are both carriers of sickle cell disease, a disease that is autosomal recessive. Their first child, Amelia, does not have the disease. Marsha and Clement are planning another pregnancy, but they are concerned about their second child having the condition. Clement’s dad died from complications of sickle cell disease shortly before Amelia was born.
1.
Draw a Punnett square to determine the likelihood of Marsha and Clement having a baby with sickle cell disease. What is the chance the baby will be a carrier of the disease, just like the parents?
2.
Marsha suggested to the nurse at the local family planning clinic that if the baby were a boy he might have a higher risk for developing the disease, just like his grandfather. If you were this Practitioner, how would you respond?
3.
When Amelia, who does not have sickle cell disease, grows up and marries someone who
does
have the disease, how likely is it that her children will have the disease?
Case Study 2
Maria is a sedentary, 68-year-old woman who is overweight. She complains that her hands and feet are always cold, and she tires quickly when cleaning the house. At her most recent visit to her doctor, her blood pressure was 184/98 mm Hg. She has edema around her ankles and legs, and her physician is concerned about an echocardiogram that indicates Maria has an enlarged heart.
1.
Identify two reasons why Maria will have tissue ischemia. How might this lead to hypoxia?
2.
What two early and reversible changes occur to tissue cells when they are hypoxic?
3.
What specific type of cellular adaptation has taken place in Maria’s enlarged heart? What made you come to this conclusion?
4.
Predict why Maria’s heart has become enlarged. Why doesn’t this enlargement give her the same cardiac strength and endurance as a well-trained athlete?
Case Study 3
Kevin worked for 10 years at a uranium mine, excavating uranium for a nearby nuclear power plant. Now, 25 years later, he has small cell lung cancer. Kevin is anorexic and has lost a consi.
Hypoglycaemia in Clinical Medicine and Law 1922 - 2022semualkaira
The world’s first recorded Diabetes Hypoglycaemia low blood
glucose event took place in Toronto in 1922 shortly after the
first patient was treated with Insulin for T1D Type 1 Diabetes.
Dr Jim Gilchrist was discovered to be behaving badly and was
attended by a clinician and Toronto Police. After sleeping in a
cell and given some food he recovered and was fine. Michael
Bliss 1982 ‘The Discovery of Insulin’
The document provides information on a case study of a 3-month-old male patient admitted to the pediatric ward with a chief complaint of non-productive cough, high grade fever, and convulsive episodes over the past 4 days. The patient's history, physical assessment findings, admitting diagnosis of suspected CNS infection and ARI with severe disease, treatment plan, and applicable nursing care are discussed. A nursing care plan is developed based on Gordon's Functional Health Patterns to address the patient's hyperthermia and risk for seizures related to his conditions. [END SUMMARY]
Assignment DetailsMN551-2 Apply knowledge of tissue and organ.docxstandfordabbot
Assignment Details
MN551-2:
Apply knowledge of tissue and organ structure and function to physiologic alterations in systems and analyze the cause and effect relationship in response to disease.
Select one of the case studies below.
In your discussion be sure to include evidence of your knowledge of tissue and organ structure and function to physiologic alterations in systems and analyze the cause and effect relationship in response to disease.
Requirements
Make sure all of the topics in the case study have been addressed.
Cite at least three sources—journal articles, textbooks, or evidenced-based websites—to support the content.
All sources must have been written within five years.
Do not use .com, Wikipedia, or up-to-date, etc., for your sources.
Case Study 1
Mechanisms of Infectious Disease
Thirty-two–year-old Jason is a general laborer, who fell ill shortly after working on a job digging up old water pipes for the town he lived in. The task involved working around shallow pools of stagnant water. Ten days after the contract ended, Jason developed a fever and aching muscles. He also had nausea, vomiting, and diarrhea. Jason’s friend took him to his physician who listened carefully to Jason’s history. She told him she suspected West Nile fever and ordered serological testing. Jason went home to recover and was feeling better by the end of the week.
Jason’s physician ordered serological tests. How would antibody titers assist the doctor in confirming his diagnosis?
When Jason was feeling at his worst, he had extreme malaise, vomiting, and diarrhea. What stage of the illness was he experiencing at that time? What are the physiological mechanisms that give rise to the signs and symptoms of infectious illness?
West Nile virus has a single-stranded RNA genome. How does this virus replicate? In general terms, what are the various effects viruses can have on host cells?
Case Study 2
Innate and Adaptive Immunity
Melissa is a 15-year-old high school student. Over the last week, she had been feeling tired and found it difficult to stay awake in class. By the time the weekend had arrived, she developed a sore throat that made it difficult to eat and even drink. Melissa was too tired to get out of bed, and she said her head ached. On Monday morning, her mother took her to her doctor. Upon completing the physical exam, he told Melissa the lymph nodes were enlarged in her neck and she had a fever. He ordered blood tests and told Melissa he thought she had mononucleosis, a viral infection requiring much bed rest.
Innate and adaptive immune defenses work collectively in destroying invasive microorganisms. What is the interaction between macrophages and T lymphocytes during the presentation of antigen?
Melissa’s illness is caused by a virus. Where are type I interferons produced, and why are they important in combating viral infections?
Humoral immunity involves the activation of B lymphocytes and production of antibodies. Wh.
Sally Clark was wrongly imprisoned for 3.5 years for murdering her two babies. However, her second baby Harry received a vaccine just 5 hours before his death that can cause life-threatening reactions. At her trial, the defense did not mention the vaccine as a possible cause of death. Experts assured the jury the vaccine could be discounted, even though it is known to cause brain damage and death in rare cases. Sally Clark's story highlighted issues with shifting expert opinions and the suppression of potentially important health information regarding vaccine risks.
This document discusses the use of homeopathic prophylaxis or nosodes to help prevent the spread of COVID-19. It provides several examples from the past where homeopathic prophylaxis was successfully used to reduce epidemics of diseases like influenza, cholera, smallpox, and leptospirosis. It notes that a pharmacy has created a nosode from a patient exhibiting COVID-19 symptoms to potentially be used preventatively by those interested in a homeopathic approach. Historical evidence is presented to support the use of homeopathic prophylaxis in epidemics while complying with social distancing guidelines.
Nursing Case study paroxysmal nocturnal hemoglobinuriapinoy nurze
The document provides information on Paroxysmal Nocturnal Hemoglobinuria (PNH), including:
1) PNH is a rare disease that affects red blood cells, causing their breakdown and release of hemoglobin in the urine.
2) It occurs most commonly in young adults and presents with dark colored urine, fatigue, and pain.
3) Treatment focuses on blood transfusions, anticoagulation medications, antibiotics, and corticosteroids. A bone marrow transplant may potentially cure PNH.
Instructions After reading the clinical description, assign word.docxnormanibarber20063
Instructions: After reading the clinical description, assign words or phrases from the paragraph to the term that best describes that concept. Note: Not all terms will have a match. IMPORTANT: As you review and identify items, please note you are not coding the scenario; coding has many rules associated with how an encounter is coded. This exercise is purely about your ability to recognize the pathophysiology and pharmacology concepts that are found within the excerpts.
Contents
Excerpt 1 2
Excerpt 2 3
Excerpt 3 4
Excerpt 4 5
Excerpt 5 6
Excerpt 6 7
Excerpt 7 8
Excerpt 8 9
Excerpt 9 10
Excerpt 10 11
Excerpt 1
Kimberly is a 37-year-old white female who presented to her family doctor and was referred to radiation oncology department for consultation. While with the oncologist, Kimberly reported that both her mother and sister had breast cancer. She describes feeling heartburn for “a long time” and difficulty swallowing during the past 4 or 5 months. She feels like food occasionally seems to ‘catch’ in her throat, and describes pain immediately below the sternum that feels like a gnawing or burning. Other complaints include weight loss of 30 lbs. in the past 6 or 7 months, weakness and coughing at night. After performing an endoscopy and a biopsy of the esophageal tract, a cancerous tumor was identified and staged, and plans for radiation and an esophagectomy are underway.
Diagnos(es)
Prognosis
Etiology
Signs
Symptoms
Complications
Sequelae
Nosocomial
Treatment
Procedure
Examination of living tissue
Medical History
Excerpt 2
Jane is a 12 year old female who presents is being treated today for hypertension related to Congenital Adrenal Hyperplasia (CAH), which was discovered when a biopsy done of Jane’s mother’s placenta for genetic screening showed that both her parents were carriers for the gene. Fetal blood work completed confirmed an enzyme deficiency blocking gluticosteriod and mineralocorticoid hormones. Jane regularly receives hormonal treatment and future genitoplasty is being considered. Normal sexual functioning is anticipated with continued treatment.
Diagnos(es)
Prognosis
Etiology
Signs
Symptoms
Complications
Sequelae
Nosocomial
Treatment
Procedure
Examination of living tissue
Medical History
Excerpt 3
James is a 43 y.o. male who complains of chest congestion and dry cough for 30 days. He has had a history of similar problems, but was not exhibiting symptoms when he went to Buffalo to visit brother who has dogs. Patient reports experiencing shortness of breath while sleeping in the guest room bed; reports that brother is a smoker. Unsure if he has seasonal allergies. On ordering a CBC with differential, the higher presence of lymphocytes suggested an allergic reaction. The doctor prescribed oral steroids and an albuterol inhaler and recommended him to return if the cough didn’t decrease.
Diagnos(es)
Prognosis
Etiology
Signs
Symptoms
Complications
Sequelae
Nosocomial
Treatment
Pr.
This document summarizes a research proposal that aims to test the hypothesis that childhood vaccinations cause autism. The study would examine mercury levels in the urine of children at different age groups and time intervals following the MMR vaccination, to determine if higher mercury is associated with autism. The proposal provides background on autism rates increasing, the discredited Wakefield study linking MMR and autism, and reviews previous studies on thimerosal and mercury that both support and contradict the hypothesized link to vaccinations. The proposed methodology would collect urine samples from 18 children divided into age groups around the time of first MMR vaccination, to measure mercury levels at different time points following vaccination.
Three cases of infants and children presenting with concerning medical issues are described. All three cases had signs of metabolic dysfunction, including prolonged prothrombin time and liver abnormalities. One case also presented with the "triad" of subdural hemorrhage, retinal hemorrhage, and encephalopathy. The document concludes that these presentations may have been caused by deficiencies or abnormalities of vitamins C, D, and K resulting from malnutrition or liver dysfunction, rather than presumed abuse as initially diagnosed.
This annotated bibliography provides sources on malignant hyperthermia. Malignant hyperthermia is a rare genetic disorder that causes a potentially life-threatening reaction to certain anesthetics. The reaction involves increased body temperature, rapid heart rate, and muscle rigidity. It is caused by a mutation in the RYR1 gene. Without treatment, the reaction can lead to death. In the past, treatments involved cooling the body with ice. Now, the standard treatment is to administer dantrolene, which was discovered as an effective treatment by Dr. Gaisford Harrison. It is important for patients and families to be aware of malignant hyperthermia and their family medical history due to the hereditary nature and risks during medical
An Irish surgeon recently rediscovered the 79th organ in the human digestive system, the mesentery, which had previously been discovered by Leonardo da Vinci but later ignored. A common anatomical variant seen in the gallbladder during imaging is called the Phrygian cap due to its resemblance to headwear associated with people from central Anatolia and the French Revolution. Dark urine in a patient taking an antibiotic for a UTI is likely caused by G6PD deficiency and hemolysis from the antibiotic. Infectious mononucleosis presents with swollen tonsils, lymphadenopathy, and atypical lymphocytes on blood smear.
Patient Voices Network Forum: Consumer Health 2.0 HandoutDaniel Hooker
"Consumer Health 2.0: Using social media to find and share health information." A handout of supplemental information and activities to support the presentation given to the Patient Voices Network Forum, "Voices in Action" on April 16, 2011.
Similar to The Spectrum of Medical Child Abuse and What is Happening Across the Country? (20)
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This presentation was uploaded with the author’s consent.
This presentation by Yong Lim, Professor of Economic Law at Seoul National University School of Law, was made during the discussion “Artificial Intelligence, Data and Competition” held at the 143rd meeting of the OECD Competition Committee on 12 June 2024. More papers and presentations on the topic can be found at oe.cd/aicomp.
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Suzanne Lagerweij - Influence Without Power - Why Empathy is Your Best Friend...Suzanne Lagerweij
This is a workshop about communication and collaboration. We will experience how we can analyze the reasons for resistance to change (exercise 1) and practice how to improve our conversation style and be more in control and effective in the way we communicate (exercise 2).
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Let’s talk about powerful conversations! We all know how to lead a constructive conversation, right? Then why is it so difficult to have those conversations with people at work, especially those in powerful positions that show resistance to change?
Learning to control and direct conversations takes understanding and practice.
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Mastering the Concepts Tested in the Databricks Certified Data Engineer Assoc...SkillCertProExams
• For a full set of 760+ questions. Go to
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XP 2024 presentation: A New Look to Leadershipsamililja
Presentation slides from XP2024 conference, Bolzano IT. The slides describe a new view to leadership and combines it with anthro-complexity (aka cynefin).
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Carrer goals.pptx and their importance in real lifeartemacademy2
Career goals serve as a roadmap for individuals, guiding them toward achieving long-term professional aspirations and personal fulfillment. Establishing clear career goals enables professionals to focus their efforts on developing specific skills, gaining relevant experience, and making strategic decisions that align with their desired career trajectory. By setting both short-term and long-term objectives, individuals can systematically track their progress, make necessary adjustments, and stay motivated. Short-term goals often include acquiring new qualifications, mastering particular competencies, or securing a specific role, while long-term goals might encompass reaching executive positions, becoming industry experts, or launching entrepreneurial ventures.
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Their work is focused on developing meaningful and lasting connections that can drive social change.
Please download this presentation to enjoy the hyperlinks!
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This presentation was uploaded with the author’s consent.
Artificial Intelligence, Data and Competition – ČORBA – June 2024 OECD discus...
The Spectrum of Medical Child Abuse and What is Happening Across the Country?
1. The Spectrum of Medical Child Abuse and
What is Happening Across the Country?
Richard G. Boles, M.D.
Director, CNNH NeuroGenomics Program
[telemedicine]
Medical Geneticist in Private Practice
Faculty Advisor, MitoAction
MitoAction Webinar
May 4, 2018
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2. The Spectrum of Medical Child Abuse and
What is Happening Across the Country?
Richard G. Boles, M.D.
Director, CNNH NeuroGenomics Program
[telemedicine]
Medical Geneticist in Private Practice
Faculty Advisor, MitoAction
MitoAction Webinar
May 4, 2018
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3. Disclosure:
Dr. Boles wears many hats
• Clinician treating patients
– Primary interests in functional disease (autism, cyclic vomiting)
– Past: Geneticist/pediatrician 20 years at CHLA/USC
– Present: Director, CNNH NeuroGenomics Program (https://cnnh.org/cnnh-
services/neurogenomics-program)
– Present: In private practice in California (http://molecularmitomd.com)
• Chief Medical & Scientific Officer of NeuroNeeds LLC
– Present: The company that produces SpectrumNeedsTM
(https://neuroneeds.com)
• Medical Director for DNA Sequencing Companies
– Past: 5 years at Courtagen Life Sciences; 6 months at Lineagen
– Present: Loose affiliations with some companies
• Expert witness in legal cases
– Present: Medical child abuse, child neglect and custody cases
(drboles@molecularmito.com)
– Vaccine Court, malpractice cases
• Researcher with prior NIH and foundation funding
– Past: USC faculty for 20 years
– Present: Study sequence variation that predispose towards neurodevelopmental
and functional disorders
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4. 1. 3-year-old boy with mild developmental delay, hypotonia, and muscle weakness
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal
inheritance, and apparent clinical improvement with cofactor therapy
7 siblings and mother all with some degree of developmental delay
3. Mother was disowned by her own mother and she and her kids were cut off from the extended
family.
4. Child developed episodes of hypernatremia (high blood sodium/salt), alkalosis, and vomiting blood.
3 episodes were life-threatening; sent to ICU
Several milder episodes that mostly led to bloody diarrhea
Extended family rallied around and supported the mother
5. No apparent medical cause was identified.
6. A much-younger Dr. Boles was the attending physician.
7. Blood testing via indwelling catheter every 4 hours revealed normal findings just prior to a life-
threatening event, in which case the blood sodium and bicarbonate levels were extremely elevated.
8. Video-EEG was ordered. No further events occurred.
9. The monitor was turned off, but the camera was left on. Video showed mom mixing a substance and
injecting into the G-tube through a very large syringe.
10. Security found empty Alka-Skelzer tins in mom’s purse, and the large syringe.
Alka-Skeltzer is sodium bicarbonate and aspirin. Aspirin can cause stomach ulceration with bleeding.
11. Mother charged with attempted murder, pleaded guilty, and sentenced to hard time.
12. Child stable several years later.
Still with same degree of developmental delay and hypotonia.
Case Report 1
Alejandro – early 1990s
5. 1. 3-year-old boy with mild developmental delay, hypotonia, and muscle weakness
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal
inheritance, and apparent clinical improvement with cofactor therapy
7 siblings and mother all with some degree of developmental delay
3. Mother was disowned by her own mother and she and her kids were cut off from the extended
family.
4. Child developed episodes of hypernatremia (high blood sodium/salt), alkalosis, and vomiting blood.
3 episodes were life-threatening; sent to ICU
Several milder episodes that mostly led to bloody diarrhea
Extended family rallied around and supported the mother
5. No apparent medical cause was identified.
6. A much-younger Dr. Boles was the attending physician.
7. Blood testing via indwelling catheter every 4 hours revealed normal findings just prior to a life-
threatening event, in which case the blood sodium and bicarbonate levels were extremely elevated.
8. Video-EEG was ordered. No further events occurred.
9. The monitor was turned off, but the camera was left on. Video howed mom mixing a substance and
injecting into the G-tube through a very large syringe.
10. Security found empty Alka-Skelzer tins in mom’s purse, and the large syringe.
Alka-Skeltzer is sodium bicarbonate and aspirin. Aspirin can cause stomach ulceration with bleeding.
11. Mother charged with attempted murder, pleaded guilty, and sentenced to hard time.
12. Child stable several years later.
Still with same degree of developmental delay and hypotonia.
Case Report 1
Alejandro – early 1990s
6. 1. 3-year-old boy with mild developmental delay, hypotonia, and muscle weakness
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal
inheritance, and apparent clinical improvement with cofactor therapy
7 siblings and mother all with some degree of developmental delay
3. Mother was disowned by her own mother and she and her kids were cut off from the extended
family.
4. Child developed episodes of hypernatremia (high blood sodium/salt), alkalosis, and vomiting blood.
3 episodes were life-threatening; sent to ICU
Several milder episodes that mostly led to bloody diarrhea
Extended family rallied around and supported the mother
5. No apparent medical cause was identified.
6. A much-younger Dr. Boles was the attending physician.
7. Blood testing via indwelling catheter every 4 hours revealed normal findings just prior to a life-
threatening event, in which case the blood sodium and bicarbonate levels were extremely elevated.
8. Video-EEG was ordered. No further events occurred.
9. The monitor was turned off, but the camera was left on. Video showed mom mixing a substance and
injecting into the G-tube through a very large syringe.
10. Security found empty Alka-Seltzer tins in mom’s purse, and the large syringe.
Alka-Seltzer is sodium bicarbonate and aspirin. Aspirin can cause stomach ulceration with bleeding.
11. Mother charged with attempted murder, pleaded guilty, and sentenced to hard time.
12. Child stable several years later.
Still with same degree of developmental delay and hypotonia.
Case Report 1
Alejandro – early 1990s
7. 1. Some people really do abuse their children.
2. A pediatrician is charged with both protecting his patient (the child) and
in protecting the family.
- When these are in conflict, the child takes precedence.
3. Most cases of medical child abuse (MCA) occur in children who have a
real underlying medical condition.
4. Actually having mitochondrial disease, or any other condition, even if one
can prove it, does NOT negate the possibility of MCA.
5. The key is to whether mitochondrial disease, or other diagnosis, can
account for the issues that are of concern.
Case Report 1
Alejandro – early 1990s
8. 1. A previously-normal, intelligent, early-adolescent girl suffered from multiple functional symptoms that started following an apparent
stomach flu at age 10 years:
Severe dysmotility, which has required long-term TPN
Chronic fatigue syndrome
Chronic pain in multiple locations
Unexplained tachycardia
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal inheritance, apparent clinical
improvement with cofactor therapy, and a variant of uncertain significance in the mtDNA thought to be disease related.
3. Additional features developed:
Anemia requiring multiple transfusions
Severe dysautonomic reactions often mimicking septic shock with negative cultures (shock syndrome)
4. Local physicians could not identify an apparent medical cause for neither the severe anemia nor the life-threatening episodes of shock.
5. Suspected MCA was reported.
The family traveled to another state for expert evaluation.
Suspected MCA was reported again.
The patient, now in her mid-teens, was held against her will in the hospital for months.
The mitochondrial cocktail was discontinued.
The parents were not allowed to contact her.
The hospital and physicians did not attempt to communicate with her previous medical providers.
6. The patient’s condition deteriorated throughout the time of separation.
Under increasing legal pressure, the family was allowed to transfer the patient to the care of a friendly local physician.
The mitochondrial cocktail was reestablished.
The patient improved dramatically.
7. Exome sequencing revealed mutations in:
A mtDNA gene, likely accounting for mitochondrial dysfunction (previously identified)
A connective tissue/Ehlers-Danlos gene, likely accounting for dysautonomia
A Blackfan-Diamond gene, likely accounting for severe anemia
8. Several years later:
Bailey is clinically stable.
No further hospitalizations
Attending university full-time
All legal action against the family was dropped.
Case Report 2
Bailey – early 2010s
9. 1. A previously-normal, intelligent, early-adolescent girl suffered from multiple functional symptoms that started following an apparent
stomach flu at age 10 years:
Severe dysmotility, which has required long-term TPN
Chronic fatigue syndrome
Chronic pain in multiple locations
Unexplained tachycardia
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal inheritance, apparent clinical
improvement with cofactor therapy, and a variant of uncertain significance in the mtDNA thought to be disease related.
3. Additional features developed:
Anemia requiring multiple transfusions
Severe dysautonomic reactions often mimicking septic shock with negative cultures (shock syndrome)
4. Local physicians could not identify an apparent medical cause for neither the severe anemia nor the life-threatening episodes of shock.
5. Suspected MCA was reported.
The family traveled to another state for expert evaluation.
Suspected MCA was reported again.
The patient, then in her mid-teens, was held against her will in the hospital for months.
The mitochondrial cocktail was discontinued.
The parents were not allowed to contact her.
The hospital and physicians did not attempt to communicate with her previous medical providers.
6. The patient’s condition deteriorated throughout the time of separation.
Under increasing legal pressure, the family was allowed to transfer the patient to the care of a friendly local physician.
The mitochondrial cocktail was reestablished.
The patient improved dramatically.
7. Exome sequencing revealed mutations in:
A mtDNA gene, likely accounting for mitochondrial dysfunction (previously identified)
A connective tissue/Ehlers-Danlos gene, likely accounting for dysautonomia
A Blackfan-Diamond gene, likely accounting for severe anemia
8. Several years later:
Bailey is clinically stable.
No further hospitalizations
Attending university full-time
All legal action against the family was dropped.
Case Report 2
Bailey – early 2010s
10. 1. A previously-normal, intelligent, early-adolescent girl suffered from multiple functional symptoms that started following an apparent
stomach flu at age 10 years:
Severe dysmotility, which has required long-term TPN
Chronic fatigue syndrome
Chronic pain in multiple locations
Unexplained tachycardia
2. Probable mitochondrial disease diagnosis based on phenotype, biochemistry, apparent maternal inheritance, apparent clinical
improvement with cofactor therapy, and a variant of uncertain significance in the mtDNA thought to be disease related.
3. Additional features developed:
Anemia requiring multiple transfusions
Severe dysautonomic reactions often mimicking septic shock with negative cultures (shock syndrome)
4. Local physicians could not identify an apparent medical cause for neither the severe anemia nor the life-threatening episodes of shock.
5. Suspected MCA was reported.
The family traveled to another state for expert evaluation.
Suspected MCA was reported again.
The patient, then in her mid-teens, was held against her will in the hospital for months.
The mitochondrial cocktail was discontinued.
The parents were not allowed to contact her.
The hospital and physicians did not attempt to communicate with her previous medical providers.
6. The patient’s condition deteriorated throughout the time of separation.
Under increasing legal pressure, the family was allowed to transfer the patient to the care of a friendly local physician.
The mitochondrial cocktail was reestablished.
The patient improved dramatically.
7. Exome sequencing revealed mutations in:
A mtDNA gene, likely accounting for mitochondrial dysfunction (previously identified)
A connective tissue/Ehlers-Danlos gene, likely accounting for dysautonomia
A Blackfan-Diamond gene, likely accounting for severe anemia
8. Several years later:
Bailey is clinically stable.
Has a few hospitalizations each year for blood transfusions and line issues.
Attending university full-time
All legal action against the family was dropped.
Case Report 2
Bailey – early 2010s
11. 1. While very different outcomes, both cases had similar beginnings:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was
challenged by some physicians.
– Later development of severe life-threatening intermittent manifestations
– An inability of the physicians to medically account for these later developments
• Dysautonomic reactions can occur, but are not usually this severe.
• Anemia can occur, but is not usually this severe.
2. How are the cases different? What was missed in the second case?
– There was no communication with previous physicians.
– There was no attempt to order additional testing.
– Even in the face of continued deterioration, the hospital continued with its
assessment and plan.
3. Were the rights of the patient violated in either case? If so how? What
would you suggest should have been done instead?
– Case 1
– Case 2
Case Reports 1 and 2
Analysis
12. 1. While very different outcomes, both cases had similar beginnings:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was
challenged by some physicians.
– Later development of severe life-threatening intermittent manifestations
– An inability of the physicians to medically account for these later developments
• Dysautonomic reactions can occur, but are not usually this severe.
• Anemia can occur, but is not usually this severe.
2. How are the cases different? What was missed in the second case?
– There was no communication with previous physicians.
– There was no attempt to order additional testing.
– Even in the face of continued deterioration, the hospital continued with its
assessment and plan.
3. Were the rights of the patient violated in either case? If so how? What
would you suggest should have been done instead?
– Case 1
– Case 2
Case Reports 1 and 2
Analysis
13. 1. While very different outcomes, both cases had similar beginnings:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was
challenged by some physicians.
– Later development of severe life-threatening intermittent manifestations
– An inability of the physicians to medically account for these later developments
• Dysautonomic reactions can occur, but are not usually this severe.
• Anemia can occur, but is not usually this severe.
2. How are the cases different? What was missed in the second case?
– There was no communication with previous physicians.
– There was no attempt to order additional testing.
– Even in the face of continued deterioration, the hospital continued with its
assessment and plan.
3. Were the rights of the patient violated in either case? If so how? What
would you suggest should have been done instead?
– Case 1
– Case 2
Case Reports 1 and 2
Analysis
14. 1. While very different outcomes, both cases had similar beginnings:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was
challenged by some physicians.
– Later development of severe life-threatening intermittent manifestations
– An inability of the physicians to medically account for these later developments
• Dysautonomic reactions can occur, but are not usually this severe.
• Anemia can occur, but is not usually this severe.
2. How are the cases different? What was missed in the second case?
– There was no communication with previous physicians.
– There was no attempt to order additional testing.
– Even in the face of continued deterioration, the hospital continued with its
assessment and plan.
3. Were the rights of the patient and/of family violated in either case? If so
how? What would you suggest should have been done instead?
– Case 1
– Case 2
Case Reports 1 and 2
Analysis
15. 1. 6-year-old girl with:
– Intestinal pseudoobstruction
– Chronic pain syndrome including somatic and visceral hypersensitivity
– Generalized dysautonomia, including unexplained tachycardia
– ADHD
2. Probable mitochondrial disease diagnosis based on phenotype, apparent maternal inheritance, muscle biopsy, and
apparent clinical improvement with cofactor therapy
3. Caitlyn presented to the ER multiple times and her care continued to escalate:
– Feeding tolerance worsened so that she was on tube feedings, TPN, and frequent additional IV fluids
– Multiple hospitalizations for fever and/or tachycardia, r/o line sepsis
– BiPAP and supplemental oxygen
– IVIG
– Narcotiics
4. Presented to another facility. No apparent medical cause was identified to justify the escalation in care
management.
5. Suspected MCA was reported.
– The child was held in the hospital against her mother’s will for months.
– Limited and supervised visitation was instituted.
– The hospital and physicians had limited communication with her previous providers.
– She was successfully weaned off of several aspects of her pervious medical care, including narcotics, BiPAP,
supplemental oxygen, IV fluids, TPN, tube feedings, and IVIG.
– The diet was expanded.
– The mitochondrial cocktail was discontinued.
– She was admitted in good condition and remained so throughout the admission.
Case Report 3
Caitlyn – early 2010s
16. 1. 6-year-old girl with:
– intestinal pseudoobstruction
– chronic pain syndrome including somatic and visceral hypersensitivity
– generalized dysautonomia, including unexplained tachycardia
– ADHD
2. Probable mitochondrial disease diagnosis based on phenotype, apparent maternal inheritance, muscle biopsy, and
apparent clinical improvement with cofactor therapy
3. Caitlyn presented to the ER multiple times and her care continued to escalate:
– Feeding tolerance worsened so that she was on tube feedings, TPN, and frequent additional IV fluids
– Multiple hospitalizations for fever and/or tachycardia, r/o line sepsis
– BiPAP and supplemental oxygen
– IVIG
– Narcotiics
4. Presented to another facility. No apparent medical cause was identified to justify the escalation in care
management.
5. Suspected MCA was reported.
– The child was held in the hospital against her mother’s will for months.
– Limited and supervised visitation was instituted.
– The hospital and physicians had limited communication with her previous providers.
– She was successfully weaned off of several aspects of her pervious medical care, including narcotics, BiPAP,
supplemental oxygen, IV fluids, TPN, tube feedings, and IVIG.
– The diet was expanded.
– The mitochondrial cocktail was discontinued.
– She remained in good condition throughout the admission and weaning process.
Case Report 3
Caitlyn – early 2010s
17. 1. Again this case has similar beginnings to the previous cases:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was challenged by some
physicians.
– Later development of severe life-threatening intermittent manifestations.
– An inability of the physicians to medically account for these later developments
2. What are the medical and legal teams not considering herein?
– The mother never misrepresented herself, although her assessments regarding the child’s discomforts
were likely way off.
– Each and every escalation was performed by medical professionals.
– All of the providers were aware of what other providers had done, or should have been.
3. Who is responsible for the unnecessary escalation of care in the absence of fraud?
4. Following my testimony, the child was returned to the family under the legal responsibility of
the maternal grandparents regarding medical care, but with no further restrictions on mom’s
involvement.
– Child is clinically stable and requires no ER visits.
– Has functional symptoms related to some residual pain and fatigue.
– No care provided other than medications for ADHD, dysmotility and neuropathic pain.
– Regular diet without supplementation.
5. What can we learn regarding what happened in this case?
Case Report 3
Analysis
18. 1. Again this case has similar beginnings to the previous cases:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was challenged by some
physicians.
– Later development of severe life-threatening intermittent manifestations.
– An inability of the physicians to medically account for these later developments
2. What are the medical and legal teams not considering herein?
– The mother never misrepresented herself, although her assessments regarding the child’s discomforts
were likely off.
– Each and every escalation was performed by medical professionals.
– All of the providers were aware of what other providers had done, or should have been.
3. Who is responsible for the unnecessary escalation of care in the absence of fraud?
4. Following my testimony, the child was returned to the family under the legal responsibility of
the maternal grandparents regarding medical care, but with no further restrictions on mom’s
involvement.
– Child is clinically stable and requires no ER visits.
– Has functional symptoms related to some residual pain and fatigue.
– No care provided other than medications for ADHD, dysmotility and neuropathic pain.
– Regular diet without supplementation.
5. What can we learn regarding what happened in this case?
Case Report 3
Analysis
19. 1. Again this case has similar beginnings to the previous cases:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was challenged by some
physicians.
– Later development of severe life-threatening intermittent manifestations.
– An inability of the physicians to medically account for these later developments
2. What are the medical and legal teams not considering herein?
– The mother never misrepresented herself, although her assessments regarding the child’s discomforts
were likely way off.
– Each and every escalation was performed by medical professionals.
– All of the providers were aware of what other providers had done, or should have been.
3. Who is responsible for the unnecessary escalation of care in the absence of fraud?
4. Following my testimony, the child was returned to the family under the legal responsibility of
the maternal grandparents regarding medical care, but with no further restrictions on mom’s
involvement.
– Child is clinically stable and requires no ER visits.
– Still has functional symptoms related to some residual pain and fatigue.
– No care is now provided other than medications for ADHD, dysmotility and neuropathic pain.
– Regular diet without supplementation.
5. What can we learn regarding what happened in this case?
Case Report 3
Analysis
20. 1. Again this case has similar beginnings to the previous cases:
– Non-specific clinical findings
– A clinical diagnosis of mitochondrial disease that was not proven, and was challenged by some
physicians.
– Later development of severe life-threatening intermittent manifestations.
– An inability of the physicians to medically account for these later developments
2. What are the medical and legal teams not considering herein?
– The mother never misrepresented herself, although her assessments regarding the child’s discomforts
were likely way off.
– Each and every escalation was performed by medical professionals.
– All of the providers were aware of what other providers had done, or should have been.
3. Who is responsible for the unnecessary escalation of care in the absence of fraud?
4. Following my testimony, the child was returned to the family under the legal responsibility of
the maternal grandparents regarding medical care, but with no further restrictions on mom’s
involvement.
– Child is clinically stable and requires no ER visits.
– Still has functional symptoms related to some residual pain and fatigue.
– No care is now provided other than medications for ADHD, dysmotility and neuropathic pain.
– Regular diet without supplementation.
5. What can we learn regarding what happened in this case?
Case Report 3
Analysis
21. • Can a good parent be contributing to harm even if
they always had the best intentions and never lied?
Case Report 3
Analysis
22. • Non-specific clinical findings
– GI failure on tube feedings or TPN
– Multiple hospitalizations with fever and tachycardia, rule/out sepsis
– Organ failure, especially bone marrow with anemia and infections
• A controversial diagnosis in the absence of proof
• Severe, even life-threatening, intermittent manifestations
– Protean
• An inability of the physicians to medically account for the issues of concern
– In part due to extreme biological and clinical complexity
– In part due to a failure of the Western Medical Model
• Mental health issues, including anxiety and/or depression, in the child and other
family members.
– Especially anxiety and/or depression in the mother
• A breakdown in communication, respect, and/or support between the family
and one or more care providers.
– In most of these cases, there are MULTIPLE care providers given the number of
specialists referred and the rotation of services.
• Presentation to another medical facility, for a “second opinion”, procedure, or
emergency.
Analysis of Cases 1-3
and About One Hundred Others
23. • A team leader – one person who runs the show
– Assemble a team that works with the leader and with each other.
– Work collaboratively with the leader and team, but let them take the heat.
– Do not doing anything important without the input of the team leader.
– Have the important information with you at all times.
• Be very careful regarding presenting at other facilities
– Clear it first with the team leader, or at least with a team member.
– By very careful while traveling.
• Insist on DNA testing, at least including exome and mtDNA
• Avoid breakdowns in communication and respect.
– Always treat the medical team with respect, especially if they do not deserve it.
– You do not have to agree; you do not have to comply, but you must keep an open line
of communication.
– Let your team leader take the heat.
• If you are affected, get treatment
– Especially regarding anxiety and/or depression in the mother
– You cannot adequately advocate for your child if you are not healthy yourself.
What Can You Do?
Pre-Allegation
24. • A team leader – one person who runs the show
– Assemble a team that works with the leader and with each other.
– Work collaboratively with the leader and team, but let them take the heat.
– Do not doing anything important without the input of the team leader.
– Have the important information with you at all times.
• Be very careful regarding presenting at other facilities
– Clear it first with the team leader, or at least with a team member.
– By very careful while traveling.
• Insist on DNA testing, at least including exome and mtDNA
• Avoid breakdowns in communication and respect.
– Always treat the medical team with respect, especially if they do not deserve it.
– You do not have to agree; you do not have to comply, but you must keep an open line
of communication.
– Let your team leader take the heat.
• If you are affected, get treatment
– Especially regarding anxiety and/or depression in the mother
– You cannot adequately advocate for your child if you are not healthy yourself.
What Can You Do?
Pre-Allegation
25. • A team leader – one person who runs the show
– Assemble a team that works with the leader and with each other.
– Work collaboratively with the leader and team, but let them take the heat.
– Do not doing anything important without the input of the team leader.
– Have the important information with you at all times.
• Be very careful regarding presenting at other facilities
– Clear it first with the team leader, or at least with a team member.
– By very careful while traveling.
• Insist on DNA testing, at least including exome and mtDNA
• Avoid breakdowns in communication and respect.
– Always treat the medical team with respect, especially if they do not deserve it.
– You do not have to agree; you do not have to comply, but you must keep an open line
of communication.
– Let your team leader take the heat.
• If you are affected, get treatment
– Especially regarding anxiety and/or depression in the mother
– You cannot adequately advocate for your child if you are not healthy yourself.
What Can You Do?
Pre-Allegation
26. • A team leader – one person who runs the show
– Assemble a team that works with the leader and with each other.
– Work collaboratively with the leader and team, but let them take the heat.
– Do not doing anything important without the input of the team leader.
– Have the important information with you at all times.
• Be very careful regarding presenting at other facilities
– Clear it first with the team leader, or at least with a team member.
– By very careful while traveling.
• Insist on DNA testing, at least including exome and mtDNA
• Avoid breakdowns in communication and respect.
– Always treat the medical team with respect, especially if they do not deserve it.
– You do not have to agree; you do not have to comply, but you must keep an open line
of communication.
– Let your team leader take the heat.
• If you are affected, get treatment
– Especially regarding anxiety and/or depression in the mother
– You cannot adequately advocate for your child if you are not healthy yourself.
What Can You Do?
Pre-Allegation
27. • A team leader – one person who runs the show
– Assemble a team that works with the leader and with each other.
– Work collaboratively with the leader and team, but let them take the heat.
– Do not doing anything important without the input of the team leader.
– Have the important information with you at all times.
• Be very careful regarding presenting at other facilities
– Clear it first with the team leader, or at least with a team member.
– By very careful while traveling.
• Insist on DNA testing, at least including exome and mtDNA
• Avoid breakdowns in communication and respect.
– Always treat the medical team with respect, especially if they do not deserve it.
– You do not have to agree; you do not have to comply, but you must keep an open line
of communication.
– Let your team leader take the heat.
• If you are affected, get treatment
– Especially regarding anxiety and/or depression in the mother
– You cannot adequately advocate for your child if you are not healthy yourself.
What Can You Do?
Pre-Allegation
28. • Don’t panic!
• What happens when they call in the social worker?
– Tell the truth. Explain why you are anxious. Explain what you want.
– Be in problem-solving mode.
• Put yourself in their shoes
– The child is very sick and they cannot seem to help.
– If they have concerns that you may be part of the problem, they are legally and
morally required to act.
– They may be ignorant, but they are not evil.
• Involve your medical team “early and often”.
• If a report is filed, get legal counsel.
– Insist on an expert witness if there is legal action.
What Can You Do?
Post-Allegation
29. • Don’t panic!
• What happens when they call in the social worker?
– Tell the truth. Explain why you are anxious. Explain what you want.
– Be in problem-solving mode.
• Put yourself in their shoes
– The child is very sick and they cannot seem to help.
– If they have concerns that you may be part of the problem, they are legally and
morally required to act.
– They may be ignorant, but they are not evil.
• Involve your medical team “early and often”.
• If a report is filed, get legal counsel.
– Insist on an expert witness if there is legal action.
What Can You Do?
Post-Allegation
30. • Don’t panic!
• What happens when they call in the social worker?
– Tell the truth. Explain why you are anxious. Explain what you want.
– Be in problem-solving mode.
• Put yourself in their shoes
– The child is very sick and they cannot seem to help.
– If they have concerns that you may be part of the problem, they are legally and
morally required to act.
– They may be ignorant, but they are not evil.
• Involve your medical team “early and often”.
• If a report is filed, get legal counsel.
– Insist on an expert witness if there is legal action.
What Can You Do?
Post-Allegation
31. • Don’t panic!
• What happens when they call in the social worker?
– Tell the truth. Explain why you are anxious. Explain what you want.
– Be in problem-solving mode.
• Put yourself in their shoes
– The child is very sick and they cannot seem to help.
– If they have concerns that you may be part of the problem, they are legally and
morally required to act.
– They may be ignorant, but they are not evil.
• Involve your medical team “early and often”.
• If a report is filed, get legal counsel.
– Insist on an expert witness if there is legal action.
What Can You Do?
Post-Allegation
32. • Don’t panic!
• What happens when they call in the social worker?
– Tell the truth. Explain why you are anxious. Explain what you want.
– Be in problem-solving mode.
• Put yourself in their shoes
– The child is very sick and they cannot seem to help.
– If they have concerns that you may be part of the problem, they are legally and
morally required to act.
– They may be ignorant, but they are not evil.
• Involve your medical team “early and often”.
• If a report is filed, get legal counsel.
– Insist on an expert witness if there is legal action.
What Can You Do?
Post-Allegation
33. Beyond the Metabolic Pathways
5/4/2018 32Company Confidential
Not on this slide:
• Transcriptional elements
• Translational elements
• Chaperones
• Glycosylation
• Assembly factors
• Other post-translational elements
• Mitochondrial Import
• Cofactor metabolism
• Antioxidant pathways
• Many others
• Causes of secondary
mitochondrial dysfunction
• Ion channels
• Peroxisomal biogenesis factors
• Many others
• Phenocopies
• There are hundreds of known
causes of mitochondrial disease
• There are perhaps more causes of
Secondary mitochondrial dysfunction
• In most patients the underlying gene
is not obvious even by an expert.
• The complexity lends itself to massive
parallel sequencing = “NextGen
sequencing”.
34. cyclic vomiting
The elephant is lying down due to chronic fatigue
irritable bowel syndrome
complex regional
pain syndrome
fibromyalgia
restless legs
syndrome
depression
migraine
tinnitus
Gardner
Boles
2006
interstitial cystitis
functional
abdominal
pain
The functional
symptoms
elephant
postural
orthostatic
tachycardia
syndrome
autism
36. What Is Functional Disease?
A poem by a 14-year-old patient
I never know when its going to come back
This fatigue is an internal attack
It so easily cripples me
Only no one can see
Its so hard when you easily tire
And everyone around you thinks your lazy and a liar
They cant see so they don't know
I know in my heart its real though
Its a relief to get the answer and know you're not crazy
You can finally prove you're not just lazy
Its still not easy and never will be
But maybe some day the world will see