A case of recurrent diarrhea dr chirag desai
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A 48-year-old male presented with recurrent episodes of explosive diarrhea and vomiting over the past three years, resulting in weight loss of 12 kg. Examinations during and between episodes were normal except for mild hypokalemia. During an endoscopy to evaluate for Crohn's disease, multiple duodenal ulcers were discovered. Biopsies did not show granuloma.
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Please note, the MCQs(Multiple choice questions) on this ppt are according to the specifications and syllabus of Specialty Certificate Examination (SCE) in Gastroenterology and the European Section and Board of Gastroenterology and Hepatology Examination (ESBGHE). However, they provide useful knowledge in the relevant subject area in general. Hence, it is recommended you to go through these videos and gather some information to gain success in future medical and surgical field examinations.
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Please note, the MCQs(Multiple choice questions) on this ppt are according to the specifications and syllabus of Specialty Certificate Examination (SCE) in Gastroenterology and the European Section and Board of Gastroenterology and Hepatology Examination (ESBGHE). However, they provide useful knowledge in the relevant subject area in general. Hence, it is recommended you to go through these videos and gather some information to gain success in future medical and surgical field examinations.
https://www.youtube.com/watch?v=7k5kba0TNRM
https://www.youtube.com/watch?v=kcGi5_xm0Uk
https://youtu.be/lSdnQVdLySg
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The definition of constipation includes the following:
infrequent bowel movements (typically three times or fewer per week)
difficulty during defecation (straining during more than 25% of bowel movements or a subjective sensation of hard stools; straining in this context is a strong effort to push out stool often by holding one's breath and by pushing the respective muscles in the abdominal area hard), or
the sensation of incomplete bowel evacuation.
The Rome III criteria are widely used to diagnose chronic constipation, and are helpful in separating cases of chronic functional constipation from less-serious instances.
Another definition states that less than three bowel movements per week and straining on more than 75% of occasions represents constipation in clinical surveys.
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This document provides guidance on evaluating and managing patients presenting with abdominal pain. It lists common differential diagnoses for abdominal pain and immediate life-threatening causes that must be recognized. It recommends asking about the pain's location, quality, severity and other details. For testing, it suggests abdominal x-rays, ultrasound, CT scans and labs depending on the situation. The document provides examples of imaging findings and discusses dispositions such as surgical consultation, serial evaluation or discharge depending on the case.
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This document discusses constipation in children. It defines constipation and provides Rome criteria for diagnosing it in infants/toddlers and older children. Constipation is common and usually functional without an organic cause. Treatment involves education, disimpaction with laxatives, prevention through diet/behavior changes and sometimes medications, and follow up. Functional non-retentive fecal incontinence is also discussed.
Gastroenterology SCE MCQ
Please note, the MCQs(Multiple choice questions) on this ppt are according to the specifications and syllabus of Specialty Certificate Examination (SCE) in Gastroenterology and the European Section and Board of Gastroenterology and Hepatology Examination (ESBGHE). However, they provide useful knowledge in the relevant subject area in general. Hence, it is recommended you to go through these videos and gather some information to gain success in future medical and surgical field examinations.
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A 54-year-old Malay woman presented with vomiting after eating and epigastric pain for one week. Physical examination revealed tenderness in the epigastric region and jaundice. Laboratory tests showed elevated liver enzymes and bilirubin. Ultrasound found multiple gallstones. She was diagnosed with cholelithiasis and treated with antibiotics and pain medications.
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SFH = 34 cm
Fetal parts = head felt in the lower abdomen.
Presentation = Cephalic.
Lie = Longitudinal.
Attitude = Flexed.
Fetal movement = Felt.
Fetal heart sound = Heard.
Placenta = Not felt separately.
3. AUSCULTATION
Fetal heart sound = Heard, rate = 140/min.
Fetal movement = Heard.
4. FUNDAL GRASP
Contraction = None.
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A case of 12 Years old boy suffering from Bronchial Asthma treated by Homeopa...
A case of 12 Years old boy suffering from Bronchial Asthma treated by Homeopa...Speciality Homeopathy Clinic
Homeopathy effectively treats Asthma and also helps the patient to overcome his dependence on bronchodilators and steroid medications. Get treated for your Asthma! Say yes to freedom from inhalers, say yes to Homeopathy – Choose Speciality Clinic.
We have treated 10,000+ cases of Asthma successfully.
Our team has combined clinical experience of more than 100 years.
Control intensity, duration, and recurrence of the Asthmatic attacks by our unique treatment approach naturally.
Increase your immunity – Choose Homeopathy
Visit http://www.specialityclinic.com/ for online homeopathic treatmentTuberculosis Presentation
Tuberculosis is a highly contagious disease typically affecting the lungs that is caused by the Mycobacterium tuberculosis bacterium. It can be active and contagious or latent and non-contagious. Symptoms of active TB include fever, chills, weight loss, and coughing up sputum or blood. TB is generally detected via a skin test and treated with a multi-month course of antibiotics, though it cannot be fully cured.
A case of severe attack of bronchial asthma treated by Homeopathy - Specialit...
A case of severe attack of bronchial asthma treated by Homeopathy - Specialit...Speciality Homeopathy Clinic
Homeopathy effectively treats Asthma and also helps the patient to overcome his dependence on bronchodilators and steroid medications. Get treated for your Asthma! Say yes to freedom from inhalers, say yes to Homeopathy – Choose Speciality Clinic.
We have treated 10,000+ cases of Asthma successfully.
Our team has combined clinical experience of more than 100 years.
Control intensity, duration, and recurrence of the Asthmatic attacks by our unique treatment approach naturally.
Increase your immunity – Choose Homeopathy
Visit http://www.specialityclinic.com/ for online homeopathic treatmentA Case of TB meningitis with Pituitary TB
This case report describes a 21-year-old girl who presented with fever, altered behavior, and increased drowsiness and was diagnosed with tuberculous meningitis based on CSF analysis. She was treated with antibiotics and steroids. Five months later, she returned with secondary amenorrhea, weight gain, and altered behavior. Further evaluation revealed anterior hypopituitarism and possible pituitary tuberculosis based on MRI findings. She was started on hormone replacement therapy and continued on anti-tuberculosis treatment. This highlights the rare occurrence of pituitary tuberculosis as a complication of central nervous system tuberculosis.
Diagnostic Test Viral Pneumonia study case
This document presents a case study of a 74-year-old Filipino female patient admitted to the hospital with viral pneumonia. She had been experiencing cough, yellow phlegm, repeated fever and back pain for 5 days prior to admission. Upon physical examination, her vital signs were taken and she appeared awake but lying in bed receiving intravenous fluids and medication. Diagnostic chest x-rays were taken which showed signs of pneumonia. The document provides background on pneumonia, details on the patient's history and symptoms, the results of the physical assessment and diagnostic tests performed.
Case Study for Clinical Rotation
During my clinical rotation at Health South (Morgantown WV) I had to do a case study on one of my patients. This is my presentation for it.
Presentation on asthma
An 8-year-old male child presented with a 1-month history of cough, shortness of breath, and chest tightness. He had been previously diagnosed with asthma 2 years prior. His physical exam and tests showed signs consistent with an asthma exacerbation. He was started on medications including inhaled corticosteroids, bronchodilators, and oral steroids to treat his symptoms and prevent future attacks. Nursing care focused on teaching the family about asthma management, medication administration, and when to seek emergency help.
Viral pneumonia
The document discusses viral pneumonia, providing details on:
1) Common viruses that cause viral pneumonia include influenza, respiratory syncytial virus, parainfluenza, and adenovirus.
2) Diagnostic tests for viral pneumonia include viral culture, antigen detection, PCR, chest x-rays, and analyzing white blood cell counts and other biomarkers.
3) Treatment involves antiviral medications like oseltamivir, while prevention includes vaccines for influenza.
Case Study
This case study describes a 79-year-old male patient admitted to the hospital with COPD, lung cancer, and respiratory distress. He underwent a right upper and middle lobectomy to remove a 4.5 cm lung mass. His medical history also includes COPD, tobacco abuse, and prostate issues. The nutrition assessment found inadequate protein and calorie intake due to his medical conditions and NPO status. The nutrition recommendations include enteral tube feeding of a high-calorie, high-protein formula to meet his increased needs from COPD, cancer, and surgery. His intake and labs will be monitored during his hospital stay.
10. asthma
MH, a 6-year-old Malay boy with a history of asthma and G6PD deficiency, presented with fever, cough, and vomiting for one day followed by shortness of breath and rapid breathing. On examination, he had a barrel-shaped chest with suprasternal and subcostal recession, prolonged expiratory breath sounds, and rhonchi bilaterally. He was given a provisional diagnosis of an asthma exacerbation based on his history of asthma and current respiratory symptoms and signs. Differential diagnoses and further investigations were pending.
Diarrhea
Diarrhea is characterized by loose or watery stool more than 3 times per day. It is a major cause of death in developing countries and infants worldwide. Diarrhea can be acute lasting 1-2 weeks, chronic lasting more than 3 weeks, or persistent lasting 2 weeks or more. Causes include viruses, bacteria, parasites, and fungi transmitted through the fecal-oral route. Management involves oral rehydration therapy with continued feeding. For severe dehydration intravenous fluids are given along with monitoring until rehydration is complete. Diet emphasizes continued breastfeeding and eating small, frequent meals high in nutrients.
A case presentation on viral pneumonia
This is a case study on Viral Pneumonia where a patient came with fever, generalised bodyache and fatigue but was undiagnosed , but when she suddenly, developed respiratory distress, desaturated,then the whole story got changed.so, may this study be of some help to you all!
COPD (Chronic obstructive Pulmonary Disease) PowerPoint Presentation -aslam
INTRODUCTION
TYPES
PATHOLOGY
RISK FACTORS
CLINICAL FEATURES
DIAGNOSIS
MANAGEMENT
COMPLICATION
COPD AND ASTHMA
Powerpoint final case study presentation
JJ is a 76-year-old female with depression, anxiety, bipolar disorder and chronic sciatica pain who owns a gun shop, lives independently with her husband and attends support groups daily. She has motor, emotional regulation, cognitive, and social dysfunction impacting her activities of daily living. The occupational therapy treatment plan focuses on relaxation techniques, thought journaling, visual imagery, task analysis and strengthening activities to help JJ better manage her depression and chronic pain.
Patient Case Presentation
This document summarizes a medical case involving a 27-year-old African American female patient who presents with migraines, fatigue, and dysmennorhea. Her medical history and lab results are presented. The assistant recommends switching the patient's migraine medication from oral tablets to nasal spray, adjusting a pain medication, treating her anemia with iron supplements, addressing her obesity through diet and exercise, and considering preventative migraine treatments.
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A case of 12 Years old boy suffering from Bronchial Asthma treated by Homeopa...
A case of 12 Years old boy suffering from Bronchial Asthma treated by Homeopa...
A case of severe attack of bronchial asthma treated by Homeopathy - Specialit...
A case of severe attack of bronchial asthma treated by Homeopathy - Specialit...
COPD (Chronic obstructive Pulmonary Disease) PowerPoint Presentation -aslam
COPD (Chronic obstructive Pulmonary Disease) PowerPoint Presentation -aslam
Similar to A case of recurrent diarrhea dr chirag desai
Rectal bleeding new presentation
Rectal bleeding is a common symptom with mostly benign causes. A 36-year-old man presents with rectal bleeding and pain on defecation, which is most likely due to an anal fissure given his symptoms and age. A 52-year-old man with a 6-week history of rectal bleeding, abdominal pain, and anemia warrants an urgent cancer referral. A 39-year-old man with painless bleeding likely has hemorrhoids given the absence of other symptoms.
Obstructive Jaundice Due to Carcinoma Head of Pancreas
Mr. Sohor Ali, a 55-year-old male, presented with complaints of jaundice, itching, abdominal pain, and weight loss for the past 3 months. On examination, he was found to be deeply jaundiced and had an ill-defined, tender lump in the epigastric region. A provisional diagnosis of obstructive jaundice due to carcinoma of the head of the pancreas was made based on his symptoms and physical findings. Differential diagnoses included obstructive jaundice due to periampullary carcinoma or cholangiocarcinoma.
Asma-1.pptx ON cervical cancer awareness.
CPC ON cervical cancer awareness session
month of January is considered to be the month of cervical cancer awareness
Case urology mraumi
Mr. Gobindo Ghosh, a 74-year-old farmer from Nepal, presented with increased urinary frequency, poor urinary stream, and urgency for 1 year. Examination found an enlarged, smooth, firm prostate. Tests showed elevated prostate size on ultrasound and normal bloodwork. The diagnosis was benign prostatic hyperplasia. He was counseled on lifestyle changes and prescribed medications to manage his symptoms.
Acute cholecystitis-1.pptx
- Mrs. Shahnaz, a 40-year-old housewife, presented with 4 days of right upper abdominal pain and 2 days of vomiting.
- On examination, she had tenderness in the right hypochondriac region and Murphy's sign was positive.
- Ultrasound showed cholelithiasis with cholecystitis.
- She was diagnosed with acute cholecystitis and treated conservatively with antibiotics, analgesics, antispasmodics and anti-ulcer medications.
Ileocecal TB.pptx
A 35-year-old male presented with a 5-month history of fever, a 2-month history of a lump in the right lower abdomen, and abdominal pain. Examination found a firm lump in the right iliac fossa. Investigations including blood tests, ultrasound, CT scan, and FNAC suggested intestinal tuberculosis. The patient underwent diagnostic laparotomy and right hemicolectomy. Histopathology unexpectedly found mucinous adenocarcinoma of the cecum with lymph node metastasis. The patient will be referred to oncology for further assessment and chemotherapy.
Abdominal Examination
1) The document provides guidelines for performing an abdominal examination, including inspection, palpation, percussion, and auscultation.
2) Seven sample patient cases are described to demonstrate how findings from the abdominal exam can be used to arrive at diagnoses. Diagnoses included fatty liver, splenomegaly, sigmoid carcinoma, ascites, hydronephrosis, carcinoid tumor, and schwannoma.
3) Performing a thorough abdominal exam through inspection, palpation, percussion, and auscultation is important for identifying abnormalities and arriving at accurate diagnoses.
Recurrent vomiting
1) A 1.5 year old boy presented with recurrent episodes of intense vomiting followed by respiratory distress and lethargy, always preceded by fever.
2) Between episodes he was completely normal. Investigations during an episode revealed hypoglycemia, metabolic acidosis, and ketones in urine.
3) Urine organic acid analysis found increased methylhydroxy butyric acid, acetoacetic acid and other organic acids, leading to a diagnosis of an organic aciduria due to beta ketothiolase deficiency.
Case Presantation,anemia.pptx
A 32-year-old lady presented with pain in the epigastric region and lethargy and body aches for the past 9 years. She has been seen at multiple private healthcare facilities and was provisionally diagnosed with nonspecific dyspepsia and iron deficiency anemia. Her blood tests over the past 4 years showed microcytic, hypochromic anemia with hemoglobin levels ranging from 6 to 10 g/dL. An upper endoscopy revealed erosions in the lower third of her esophagus.
CASE PRESENTATIONS;.pptx
Some proposed mechanisms for acid-peptic disease and gastric ulcer disease include:
- Excessive acid secretion leading to direct damage of the gastric mucosa. Proton pump inhibitors are effective treatments by reducing acid production.
- Infection with Helicobacter pylori, which can increase gastric acid production and impair mucosal defenses. Eradication of H. pylori is an important treatment strategy.
- Nonsteroidal anti-inflammatory drug (NSAID) use, like the ibuprofen in this case, which inhibit prostaglandin synthesis and impair mucosal defenses against acid exposure.
- Stress and smoking can also increase acid secretion and impair mucosal defenses, pre
Cpc.ABDOMEN
1. A 50-year-old man presented with 4 days of right upper abdominal pain, low-grade fever, and tea-colored urine.
2. Physical examination revealed tenderness in the right hypochondrium region and a positive Murphy's sign. Ultrasound showed thickened gallbladder walls, pericholecystic collection, and gallstones.
3. He was diagnosed with acute cholecystitis secondary to cholelithiasis. As medical management failed to provide relief, laparoscopic cholecystectomy was recommended to definitively treat his condition and prevent future complications or recurrence of stones.
dermoid.pptx
A 27-year-old female presents with a 3-year history of progressive abdominal enlargement and urinary retention. Physical examination reveals a distended abdomen that is dull to percussion. Imaging shows a well-defined cystic mass in the right ovary. The patient undergoes laparoscopic removal of a massive ovarian cyst, which is diagnosed as a dermoid cyst on histopathology.
Choledochal cyst (type IVb) with Cholangitis
The document summarizes the case of a 10-year-old boy admitted with fever, jaundice, and abdominal pain. Key findings include intermittent high fever for 4 days, jaundice for 4 days, and occasional right upper abdominal pain. He had a similar prior episode 2 months ago. Examination found him febrile but otherwise stable. Tests showed elevated liver enzymes and bilirubin. Ultrasound and MRCP found a fusiform dilated common bile duct suggestive of a choledochal cyst. He was started on antibiotics and vitamin K. His fever subsided after a few days but jaundice remained. A pediatric surgery consultation was requested.
OBS AND GYNAE APH case presentation
This document presents a case study of a 22-year-old pregnant woman, Rupa Serung, who is 38 weeks pregnant and was admitted to the hospital with bleeding per vagina. On examination, she was found to have a grade II placenta previa. Tests showed signs of anemia. An ultrasound confirmed a single fetus in longitudinal lie and cephalic presentation with a low-lying placenta. The diagnosis was grade II placenta previa. The options for management include either expectant management with bed rest or immediate termination of the pregnancy depending on the status of the mother and fetus.
Case study
A 70-year-old man presented with vague abdominal pain following treatment for stage III colon cancer. Imaging showed no evidence of recurrence but his CEA level was rising. Review of his initial PET scan in light of a subsequent scan found a lesion that was initially missed due to its location near the bowel.
Case study
A 70-year-old white male presented with a history of stage III colon cancer and recent abdominal pain. Imaging showed no evidence of recurrent or metastatic disease. Due to a rising CEA level, the physician recommended a follow up PET scan, which ultimately revealed a focal area of uptake indicating cancer that was initially missed on the first PET scan. This case highlights the difficulty of distinguishing pathological from physiological uptake on PET alone without comparison to recent CT images.
CRONS PPT.pptx
Mrs. X, a 45-year-old female, presented with vomiting, abdominal pain, and diarrhea for 3 days. CT scan and colonoscopy revealed inflammation in the intestine without mass and multiple colon ulcers with skip lesions. She was diagnosed with Crohn's disease. Crohn's disease is a chronic inflammatory bowel disease that can affect any part of the digestive tract. Treatment involves medications like 5-ASA, corticosteroids, and immunomodulators to reduce inflammation and induce remission.
Clinical Cases in Gastroenterology and Hepatology
a variety of gastroenterology cases that covers important areas of clinical practice for residents and GI specialists.
1.12 gi 2013 april
A 38-year-old woman presents with upper abdominal pain worse after meals but no other symptoms. Her H. pylori test is positive. The doctor treats her empirically with Prevpac. A year later, she reports frequent heartburn. Lifestyle modifications and PPI treatment are recommended. She does not need an endoscopy unless symptoms fail to improve.
Intestinal obstruction
This document presents the case of a 68-year-old male who presented with abdominal pain, distension, and constipation for 3 days. On examination, his abdomen was distended and tender in the right lower quadrant. Imaging showed slightly prominent bowel loops. He was diagnosed with intestinal obstruction and treated conservatively with bowel rest, IV fluids, and analgesics. Intestinal obstruction occurs when there is a sudden stoppage of intestinal contents, and can be classified as dynamic, adynamic, according to its level and nature. The clinical features vary depending on the location and cause of obstruction.
Similar to A case of recurrent diarrhea dr chirag desai (20)
Obstructive Jaundice Due to Carcinoma Head of Pancreas
Obstructive Jaundice Due to Carcinoma Head of Pancreas
More from Atit Ghoda
Acute onset vomiting
This document discusses the evaluation and management of acute onset vomiting. It emphasizes that a thorough history including circumstances of onset, associated symptoms, nature of vomiting, and abdominal exam are crucial to determining the underlying cause. Common etiologies include infectious gastroenteritis, drug toxicity, or neurological/metabolic conditions. Bilious or bloody vomiting require further investigation which may include imaging or endoscopy to identify potential mechanical obstruction or bleeding. The key is to avoid overlooking serious conditions and treat the underlying cause while providing supportive care like antiemetics and IV fluids.
Management of symptomatic bradycardia
This document provides guidance on managing symptomatic bradycardia. It defines bradycardia and distinguishes between symptomatic and adverse bradycardia. For initial management, it recommends assessing ABCDE, obtaining an ECG, starting an IV, providing oxygen monitoring, calling for help, and identifying the cause. Patients with adverse features like shock, ischemia, syncope or heart failure require prompt treatment with atropine up to 3mg in doses of 500mcg every 3-5 minutes. If atropine is not effective, options include isoprenaline, adrenaline, or transcutaneous pacing, and transvenous pacing may be arranged. In some cases of digoxin toxicity, antibody fragments can be tried before
Imaging of the Pancreas
This document discusses imaging of the pancreas. Ultrasound and CT scan are the primary modalities used. Ultrasound is useful as a screening tool due to its availability, low cost and lack of radiation. CT scan is the gold standard modality as it can accurately detect pancreatic abnormalities and complications. MRCP and MRI provide additional information and are used as problem-solving tools. The document reviews imaging features of various pancreatic pathologies such as acute pancreatitis, chronic pancreatitis, tumors and trauma.
Acute pancreatitis
A 22-year-old male presented with sudden onset of epigastric pain radiating to the back with no significant past medical history. On examination, he was in pain with normal vital signs and abdominal tenderness. This raises concern for acute pancreatitis. The document discusses definitions, diagnosis, assessment of severity, management of fluid replacement, antibiotics, nutrition, and other issues related to acute pancreatitis. Enteral nutrition is preferred over total parenteral nutrition for acute pancreatitis as it reduces mortality, organ failure, infections, and length of hospital stay.
Endotherapy in Chronic Pancreatitis
The document discusses various approaches for managing chronic pancreatitis and pancreatic pseudocysts. It compares EUS, MRCP, and the combination for evaluating chronic pancreatitis. For pain relief in chronic pancreatitis, endotherapy using pancreatic stents is discussed as less invasive than surgery, with short-term relief rates of 70-94% and long-term relief of 52-82%. Early endoscopic treatment of pancreatic stones is recommended to help with long-term pain management. For pancreatic pseudocysts, the document discusses definitions, incidence, imaging with CT, and endoscopic drainage approaches including transmural versus transpapillary based on characteristics like size and communication with the pancreatic duct.
Solid lesions of the Pancreas
This document discusses a case of a 67-year-old man presenting with weight loss, jaundice, and a pancreatic head mass found on imaging. Initial FNA was nondiagnostic. The document then reviews epidemiology, presentations, imaging features, and histology of various solid pancreatic lesions. It discusses evaluating the findings to determine if the mass is neoplastic or non-neoplastic such as autoimmune pancreatitis. EUS with FNA was repeated and found to be consistent with autoimmune pancreatitis, confirmed with elevated IgG4 levels. The patient responded well to steroid treatment.
Cystic lesions of the pancreas
A 45-year-old female presented with recurrent vomiting, loss of appetite, abdominal pain, and significant weight loss over 6 months. Imaging revealed a 7x5cm cystic lesion in the pancreatic head and neck. The differential diagnosis for cystic pancreatic lesions includes pseudocyst, serous cystadenoma, mucinous cystic neoplasm, intraductal papillary mucinous neoplasm, and rarer entities. Specific imaging features, cyst fluid analysis, and clinical characteristics can help differentiate these potential diagnoses to guide management of the patient's cystic pancreatic lesion.
Pancreatic neuroendocrine tumours
This document provides information on pancreatic neuroendocrine tumors (NETs). It discusses that NETs arise from cells that produce and secrete hormones. The pancreas is a common site of origin for NETs. NETs are typically slow growing but can metastasize. Classification systems take into account factors like origin, characteristics, behavior, grade, and stage. The WHO classification defines NETs based on differentiation, metastases, Ki-67 index, invasion and other criteria. Pancreatic NETs (pNETs) are rare but increasing in incidence. pNETs may or may not cause symptoms through hormone secretion. Common pNET types include insulinomas, gastrinomas, and non-functional tumors. Nonspecific
Metabolic emergencies in the Newborn
This document discusses neonatal metabolic emergencies that are often missed. It begins by noting the prevalence of inborn errors of metabolism and how certain communities may be at higher risk. It then explores why metabolic emergencies are commonly missed, including non-specific symptoms, precipitating illnesses, lack of available tests, and failure to consider metabolic causes. Several case studies are presented to illustrate signs that should prompt suspicion of an underlying metabolic issue, such as recurrent or unexplained illness. Common metabolic disorders that can cause neonatal emergencies are listed. The document concludes by emphasizing the importance of considering metabolic disorders when illnesses are unexplained or recurrent.
14 mitochondrial hepatopathy ahmedabad-july-2012
Mitochondrial diseases are caused by defects in mitochondrial DNA or the respiratory chain. They can present with a wide variety of symptoms affecting multiple organ systems.
Fatty acid oxidation defects (FAODs) and respiratory chain defects (RCDs) are two major types of mitochondrial diseases. FAODs involve defects in breaking down fatty acids and present with hypoglycemia and liver disease in infants and children. RCDs involve defects in the mitochondrial respiratory chain and can cause liver failure in neonates or chronic liver disease.
It can be challenging to identify mitochondrial diseases due to their diverse presentations and similarities to other diseases. Biochemical testing of blood and urine can provide clues, but definitive diagnosis requires specialized testing not
Neonatal Jaundice Ahmedabad: Dr SK Yachha
1) Neonatal jaundice is a common condition seen in newborns characterized by yellowish discoloration of the skin and eyes due to high bilirubin levels. 2) Conjugated jaundice is diagnosed when direct bilirubin is elevated based on specified thresholds. 3) The document discusses various cases of neonatal cholestasis including biliary atresia, PFIC, and galactosemia providing details on presentation, investigations, management, and natural history.
Dr vidyut 2
This document provides information on storage disorders in children, specifically glycogen storage diseases (GSD) and lysosomal storage disorders (LSD). It discusses that GSD results from enzymatic defects that prevent the breakdown of glycogen, with types I and III being the most common. Symptoms include hypoglycemia, hepatomegaly, and abnormal biochemical markers. Diagnosis involves glucagon challenge, liver biopsy, and genetic testing. Treatment focuses on dietary management to maintain blood glucose. LSDs involve the accumulation of substrates due to lysosomal enzyme deficiencies. They present variably depending on the substrate and can affect multiple organ systems. Management may include hematopoietic stem cell transplant, enzyme replacement therapy, or other supportive treatments
Emergency management of metabolic crisis
1) Inborn errors of metabolism (IEMs) are individually rare genetic disorders that collectively have an incidence of 1 in 800 to 1 in 5000 births.
2) Clinicians face the difficult challenge of knowing when to consider IEMs in the differential diagnosis and which tests to order for evaluation.
3) Other diagnoses like sepsis, intracranial hemorrhage, and pulmonary hemorrhage may accompany IEMs, so they should not be ruled out prematurely.
4) Clues to the presence of an IEM can often be found in the family history and presentation of rapid deterioration in an otherwise well infant.
Introduction to genetics final
The parents are worried about a second pregnancy after their first child died of jaundice and fluid in the stomach for over a year. Genetic tests are needed to determine what caused the first child's death and guarantee the health of the next child, but these tests require knowing the specific disease and mutation involved. Without knowing what happened to the first child, it will be difficult to provide accurate guidance for the next pregnancy.
Salla disease
A 3 month old child presented with neonatal hepatitis and ascites. Initial tests showed liver damage and worsening liver function. Further testing found very high levels of sialic acid in the urine, suggesting Salla disease. Salla disease is a rare lysosomal storage disorder caused by a defect in sialic acid metabolism, characterized by ascites and liver involvement. The child was treated supportively but died from complications within two weeks.
Anupa mishra
This document presents the case of a 7-year-old male child with umbilical hernia, noisy breathing, joint swelling, and short stature. On examination, the child had hepatosplenomegaly, murmur, and mild developmental delay. Investigations showed anemia, elevated alkaline phosphatase, and radiological findings suggestive of dysostosis multiplexa. Liver biopsy indicated a possible storage disorder. The document discusses evaluating splenomegaly through a thorough history, examination, and focused investigations to arrive at a diagnosis. A step-wise approach is outlined to systematically consider infectious, hematological, autoimmune, storage and other conditions.
Dr bhavik c
A 9-year-old boy was referred for evaluation of recurrent gum bleeding and nose bleeds, and was found to have elevated liver enzymes, hypergammaglobulinemia, and autoantibodies consistent with autoimmune hepatitis. A liver biopsy showed findings characteristic of autoimmune hepatitis. He was started on prednisone and azathioprine for treatment of autoimmune hepatitis type 1.
Dr Rajkumar
This document describes the case of a 3-year-old boy who presented with recurrent loss of consciousness following trivial illness. Initial workup revealed hypoglycemia and hyperammonemia. Further testing found elevated 2-oxoglutaric acid and a high C0/C16-18 ratio suggestive of carnitine palmitoyltransferase I (CPT-I) deficiency. The patient was diagnosed with a fatty acid oxidation disorder and treated accordingly.
Dr Siddharth Shah
This document summarizes the medical history and examination of an 11-year-old boy from North Gujarat, India who has experienced seizures, hypoglycemia, deafness, strokes, and other issues. Key details include seizures beginning at age 3, recurrent hypoglycemia from ages 4-8, bilateral deafness at age 8, proteinuria and edema at age 9, and two strokes on the left side at ages 10 and in March 2012. Medical tests found hepatomegaly, elevated lactate, bilateral sensorineural hearing loss, and abnormal MRI findings. The document discusses possible mitochondrial disorders as causes of the patient's condition.
A case of a child with failure to thrive
This document describes the case of an 8-year-old boy referred for failure to thrive and chronic diarrhea since infancy. Examinations and investigations over several years were nondiagnostic until tandem mass spectrometry revealed elevated methylmalonic acid, suggestive of methylmalonic acidemia. Methylmalonic acidemia results from defects in intracellular vitamin B12 metabolism and causes accumulation of methylmalonic acid. The patient's chronic diarrhea, failure to thrive, and biochemical abnormalities are consistent with this diagnosis. Treatment involves dietary protein restriction, vitamin B12 supplementation, carnitine, and management of acute complications.
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A case of recurrent diarrhea dr chirag desai
- 1. A case of recurrent diarrhea Dr Pratham Bysani Resident, Dept of Surgery, BJ Medical College and Civil Hospital, Ahmedabad Dr Chirag Desai Consultant Oncologist
- 2. A case of recurrent diarrhea • A 48 year old male was seen for recurrent diarrhoea. • He was unwell for past three years with recurrent explosive diarrhea and vomiting, so much so that he would loose several kilograms of weight during these episodes and would complain of severe weakness and cramps.
- 3. • He was admitted on number of occasions for his diarrhea. • Every time stool examination was essentially normal and he would be treated with intravenous fluids and antibiotics and would eventually settle down.
- 4. • He had a full length colonoscopy which showed a tiny polyp in the cecum but nil else. Barium follow-through’ and abdominal sonography were both normal • Over past three years he had lost about 12 kg. Weight. • He was otherwise fit and well and had no other medical problems. • Family history was unremarkable.
- 5. • On examination he looked well and detailed examination was normal. • He was advised to come again when he had diarrheal episode. Soon he had one and he was admitted again.
- 6. • Physical examination was normal again and stool examination was normal too. • His CBC, Urea, Creatinine and LFT’s were normal. • There was mild Hypokalemia. • He was taken for jejunal biopsy when we detected multiple duodenal ulcers in 1st, 2nd and 3rdpart. Multiple biopsies were taken to rule out Crohn’s disease. • Biopsies did not reveal any granuloma.
- 7. What will you do now?
- 8. Analysis
- 9. • Diarrhea is episodic; In between well • No blood • No fever • No bloating, flatulence • No extra intestinal manifestations • No drugs • Weight loss present • Colonoscopy and barium follow through normal