This document provides information on rapidly progressive glomerulonephritis (RPGN), including definitions, classifications, pathogenesis, clinical features, pathology, treatment, and epidemiology of the main types. It discusses anti-glomerular basement membrane glomerulonephritis, immune complex-mediated RPGN, and pauci-immune RPGN. The pathology and clinical presentation of each type is described. Treatment typically involves immunosuppression with corticosteroids and cyclophosphamide along with plasmapheresis in severe cases.
Giant cell arteritis is a disease that affects medium and large arteries, often causing ischemia. It typically affects older adults and presents with symptoms of temporal headache, jaw claudication, and scalp tenderness. Laboratory tests often show elevated ESR and CRP levels. Diagnosis is made through temporal artery biopsy or response to treatment with corticosteroids like prednisone. Treatment involves high doses of prednisone tapered over two years to prevent vision loss and other complications.
This document provides an overview of the approach to evaluating and managing cyanosis in neonatal patients. It begins by defining different types of cyanosis and their causes, including central cyanosis resulting from low oxygen saturation and peripheral cyanosis from poor circulation. The summary then outlines the initial steps in approaching a cyanotic neonate, which include identifying the type of cyanosis, evaluating possible causes, taking a medical history, and performing a physical exam with focus on pulmonary, cardiac, and neurological systems. Specific tests like hyperoxia tests and echocardiography are also discussed. The document concludes by reviewing treatments for common respiratory and cardiac conditions that can cause neonatal cyanosis.
Alagille syndrome is a rare, inherited disorder that affects multiple organ systems including the liver, heart, eyes, bones, kidneys and nervous system. It is caused by a mutation in a single gene and is present at birth, though symptoms may not appear until later in life. Symptoms include jaundice, itching, pale stools, poor weight gain and vitamin deficiencies due to impaired bile flow and fat absorption. While there is no cure, treatment focuses on increasing bile flow, managing symptoms, maintaining nutrition, and liver transplantation in severe cases. Many children and adults with Alagille syndrome can lead normal lives with proper management.
- A 6-month-old male patient presented with macrocephaly, West syndrome, right-sided hemiplegia and severe developmental delay. MRI showed abnormal enlargement of the left cerebral hemisphere with signs of lissencephaly, pachygyria and heterotopias as well as white matter changes.
- The diagnosis was hemimegalencephaly, a rare congenital brain malformation where one hemisphere is abnormally enlarged. It involves neuronal and glial abnormalities and commonly causes seizures, hemiplegia and developmental delays.
- Hemimegalencephaly is characterized on imaging as asymmetric skull and brain enlargement, cortical dysplasias, and white matter signal changes correlated to poor
This document provides guidance on evaluating and treating cyanosis in neonates. Key points include:
- Cyanosis can be central, peripheral or differential based on its mechanism and location. A thorough history, physical exam, pulse oximetry and diagnostic testing is needed to determine the cause.
- Causes can be non-cardiac such as lung issues or methemoglobinemia, or cardiac such as transposition of the great arteries, tetralogy of Fallot, or ductal-dependent lesions.
- Treatment focuses on stabilizing the infant until the specific cause is determined and any necessary procedures or surgery can be done, using prostaglandins to maintain ductal patency in duct-dependent lesions when
granulomatosis with polyangiitis (Wegener’s granulomatosis) Ameen Rageh
This document discusses Wegener's granulomatosis (now called granulomatosis with polyangiitis or GPA), a rare multisystem autoimmune disease characterized by necrotizing vasculitis and granulomatous inflammation that commonly involves the respiratory tract and kidneys. Key points include:
- GPA is associated with circulating ANCA antibodies and causes necrotizing inflammation of small to medium vessels.
- Common clinical manifestations involve the upper respiratory tract, lungs, and kidneys. Chest imaging often shows nodules/masses, cavities, ground glass opacities and consolidations.
- Diagnosis is based on clinical features, labs including positive ANCA, and biopsy
Presentation1, radiological imaging of karrtegner,s syndrome.Abdellah Nazeer
Kartagener syndrome is a type of primary ciliary dyskinesia characterized by a clinical triad of sinusitis, situs inversus, and bronchiectasis. Radiological findings can demonstrate the mirror-image reversal of organ positioning (situs inversus) as well as signs of chronic sinusitis and bronchiectasis including mucus plugging. Computed tomography is particularly useful for evaluating the bronchiectasis morphology and associated findings like mosaic perfusion patterns or tree-in-bud signs of infection. Differential diagnosis includes other causes of impaired mucociliary clearance and immunodeficiencies.
This document provides information on rapidly progressive glomerulonephritis (RPGN), including definitions, classifications, pathogenesis, clinical features, pathology, treatment, and epidemiology of the main types. It discusses anti-glomerular basement membrane glomerulonephritis, immune complex-mediated RPGN, and pauci-immune RPGN. The pathology and clinical presentation of each type is described. Treatment typically involves immunosuppression with corticosteroids and cyclophosphamide along with plasmapheresis in severe cases.
Giant cell arteritis is a disease that affects medium and large arteries, often causing ischemia. It typically affects older adults and presents with symptoms of temporal headache, jaw claudication, and scalp tenderness. Laboratory tests often show elevated ESR and CRP levels. Diagnosis is made through temporal artery biopsy or response to treatment with corticosteroids like prednisone. Treatment involves high doses of prednisone tapered over two years to prevent vision loss and other complications.
This document provides an overview of the approach to evaluating and managing cyanosis in neonatal patients. It begins by defining different types of cyanosis and their causes, including central cyanosis resulting from low oxygen saturation and peripheral cyanosis from poor circulation. The summary then outlines the initial steps in approaching a cyanotic neonate, which include identifying the type of cyanosis, evaluating possible causes, taking a medical history, and performing a physical exam with focus on pulmonary, cardiac, and neurological systems. Specific tests like hyperoxia tests and echocardiography are also discussed. The document concludes by reviewing treatments for common respiratory and cardiac conditions that can cause neonatal cyanosis.
Alagille syndrome is a rare, inherited disorder that affects multiple organ systems including the liver, heart, eyes, bones, kidneys and nervous system. It is caused by a mutation in a single gene and is present at birth, though symptoms may not appear until later in life. Symptoms include jaundice, itching, pale stools, poor weight gain and vitamin deficiencies due to impaired bile flow and fat absorption. While there is no cure, treatment focuses on increasing bile flow, managing symptoms, maintaining nutrition, and liver transplantation in severe cases. Many children and adults with Alagille syndrome can lead normal lives with proper management.
- A 6-month-old male patient presented with macrocephaly, West syndrome, right-sided hemiplegia and severe developmental delay. MRI showed abnormal enlargement of the left cerebral hemisphere with signs of lissencephaly, pachygyria and heterotopias as well as white matter changes.
- The diagnosis was hemimegalencephaly, a rare congenital brain malformation where one hemisphere is abnormally enlarged. It involves neuronal and glial abnormalities and commonly causes seizures, hemiplegia and developmental delays.
- Hemimegalencephaly is characterized on imaging as asymmetric skull and brain enlargement, cortical dysplasias, and white matter signal changes correlated to poor
This document provides guidance on evaluating and treating cyanosis in neonates. Key points include:
- Cyanosis can be central, peripheral or differential based on its mechanism and location. A thorough history, physical exam, pulse oximetry and diagnostic testing is needed to determine the cause.
- Causes can be non-cardiac such as lung issues or methemoglobinemia, or cardiac such as transposition of the great arteries, tetralogy of Fallot, or ductal-dependent lesions.
- Treatment focuses on stabilizing the infant until the specific cause is determined and any necessary procedures or surgery can be done, using prostaglandins to maintain ductal patency in duct-dependent lesions when
granulomatosis with polyangiitis (Wegener’s granulomatosis) Ameen Rageh
This document discusses Wegener's granulomatosis (now called granulomatosis with polyangiitis or GPA), a rare multisystem autoimmune disease characterized by necrotizing vasculitis and granulomatous inflammation that commonly involves the respiratory tract and kidneys. Key points include:
- GPA is associated with circulating ANCA antibodies and causes necrotizing inflammation of small to medium vessels.
- Common clinical manifestations involve the upper respiratory tract, lungs, and kidneys. Chest imaging often shows nodules/masses, cavities, ground glass opacities and consolidations.
- Diagnosis is based on clinical features, labs including positive ANCA, and biopsy
Presentation1, radiological imaging of karrtegner,s syndrome.Abdellah Nazeer
Kartagener syndrome is a type of primary ciliary dyskinesia characterized by a clinical triad of sinusitis, situs inversus, and bronchiectasis. Radiological findings can demonstrate the mirror-image reversal of organ positioning (situs inversus) as well as signs of chronic sinusitis and bronchiectasis including mucus plugging. Computed tomography is particularly useful for evaluating the bronchiectasis morphology and associated findings like mosaic perfusion patterns or tree-in-bud signs of infection. Differential diagnosis includes other causes of impaired mucociliary clearance and immunodeficiencies.
Approach to a child with hematemesis or melenaAvijeet Mishra
1. A 32 month old male presented with a 2 day history of abdominal pain, black stools, and fresh blood in stool. Physical exam showed pallor and splenomegaly.
2. Initial workup revealed anemia and thrombocytopenia. Further imaging found portal cavernoma and esophageal varices.
3. In children, common causes of upper gastrointestinal bleeding include mucosal erosion, variceal bleeding from extrahepatic portal vein obstruction, and peptic ulcer disease. Initial management involves resuscitation followed by endoscopy for diagnosis and treatment.
The document discusses pulmonary eosinophilias, which are a heterogeneous group of disorders characterized by varying degrees of pulmonary or blood eosinophilia. It classifies the main types as Loeffler's syndrome, drug and toxin induced eosinophilic pneumonia, tropical pulmonary eosinophilia, and allergic bronchopulmonary aspergillosis. Loeffler's syndrome is characterized by transient pulmonary infiltrates associated with eosinophilia caused by parasites. Tropical pulmonary eosinophilia is caused by a hypersensitivity reaction to filarial parasites. Allergic bronchopulmonary aspergillosis involves a hypersensitivity response to inhaled fungal antigens like Aspergillus.
Henoch–Schönlein purpura (HSP) is a type of vasculitis that causes small vessel inflammation, especially in the skin, digestive tract, and kidneys. It is more common in children ages 4-7 and is often triggered by infections. The skin presents with purpuric rashes and joint pain. Gastrointestinal involvement can cause abdominal pain, bleeding, or intussusception. Kidney involvement results in proteinuria and potentially renal failure. Treatment involves steroids, immunosuppressants, and addressing complications like gastrointestinal bleeding. Prognosis is generally good but long term kidney issues can occasionally occur.
Sarcoidosis is a systemic granulomatous disease of unknown origin characterized by non-caseating granulomas that commonly affect the lungs. Pulmonary manifestations are present in 90% of patients and include bilateral hilar lymphadenopathy and pulmonary infiltrates. While two thirds of patients experience remission within ten years, one third have progressive disease that can lead to pulmonary fibrosis and, in rare cases, death. Computed tomography is more sensitive than chest x-rays in detecting lymph node enlargement and lung abnormalities associated with sarcoidosis.
Periventricular leukomalacia (pvl) is a form of brain damage that affects the white matter of brain, resulting in the cells in the white matter of brain either decaying or dying.
1) This case presentation discusses a 5-month-old child who presented with failure to thrive and was found to have electrolyte imbalance including hypokalemia, hyponatremia, and hypochloremia.
2) The child was diagnosed with metabolic alkalosis and further workup found high plasma renin activity, suggestive of Bartter syndrome.
3) Bartter syndrome is characterized by hypokalemic metabolic alkalosis with hypercalciuria and salt wasting due to a defect in sodium, chloride, and potassium transport in the kidney. The presentation, causes, and treatment of Bartter syndrome are discussed in detail in this case study.
This document provides information about hepatopulmonary syndrome (HPS). It defines HPS as the presence of liver disease, impaired oxygenation, and intrapulmonary vascular abnormalities. The pathophysiology involves widespread pulmonary vasodilatation leading to ventilation-perfusion mismatching and right-to-left shunting, causing hypoxemia. Clinical features include signs of liver disease in most patients and dyspnea in some. Diagnosis requires confirming the three criteria through tests like contrast echocardiography to detect intrapulmonary shunting.
Presentation1, radiological imaging of tuberous sclerosis.Abdellah Nazeer
Cortical or subependymal tubers and white matter abnormalities, renal angiomyolipomas, and cardiac rhabdomyomas are the most common radiographic manifestations of tuberous sclerosis. Neurological manifestations include calcified cortical/subcortical tubers seen on CT and MRI. Renal angiomyolipomas appear as fat-containing lesions on CT or MRI. Cardiac rhabdomyomas are seen in around half of patients and typically regress by age 4.
Childhood polyarteritis nodosa (CPAN) is a rare and often fatal disease that affects small and medium arteries, previously known as infantile polyarteritis nodosa. It is an acute, subacute or chronic disease characterized by loss of peripheral and visceral arteries. Asian descent appears to have a disproportionately high incidence. Clinically, it presents with fever, joint and muscle pain, hypersensitivity, and weight loss. Diagnosis involves laboratory tests showing increased inflammatory markers and imaging showing aneurysms. Treatment involves immunosuppressant medications like prednisolone and cyclophosphamide over the long term to prevent complications like stroke and organ failure.
This document discusses neurocutaneous syndromes, which are disorders characterized by abnormalities of the skin and central nervous system. Some key syndromes mentioned include neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and Von Hippel-Lindau syndrome. Neurofibromatosis type 1 is described in detail, outlining its diagnostic criteria involving cafe-au-lait spots, freckling, and tumors. Tuberous sclerosis is also summarized, noting its diagnostic criteria involve tumors in multiple organ systems. Sturge-Weber syndrome links a port-wine stain on the face with leptomeningeal angiomas in the brain.
Presentation1.pptx, radiological imaging of sarcoidosis.Abdellah Nazeer
Sarcoidosis is an inflammatory disease characterized by non-caseating granulomas that can affect multiple organs. Pulmonary involvement occurs in up to 90% of patients and includes lymph node enlargement, micronodules with a perilymphatic distribution, fibrotic changes, and bilateral perihilar opacities. Extrapulmonary involvement such as skin and eye lesions is present in 25% of cases. HRCT is useful for evaluating the pulmonary manifestations which can vary significantly between patients.
Takayasu arteritis is a rare type of vasculitis that causes inflammation of the aorta and its main branches, which can lead to narrowed or aneurysmal arteries. It most commonly affects young Asian women. Treatment aims to relieve arterial inflammation and prevent complications through medications like glucocorticoids and immunosuppressants, though the condition can be challenging to manage long-term. Diagnosis involves examining blood tests, imaging of arteries, and ruling out other conditions through angiography, MRI, or ultrasound.
This document discusses various acyanotic congenital heart diseases. It begins by classifying congenital heart disease into cyanotic and acyanotic categories. It then further divides acyanotic congenital heart disease into those with a left-to-right shunt or increased pulmonary blood flow, such as atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA), and those without a shunt such as coarctation of the aorta. The document then goes on to describe the pathophysiology, clinical features, investigations and management of ASD, VSD, and PDA in more detail. It also briefly discusses Eisenmenger syndrome.
The document discusses ring enhancing lesions seen on neuroimaging. These lesions appear as hypodense masses that enhance with contrast. Common causes include metastatic lesions, primary brain tumors, pyogenic brain abscesses, tuberculomas, cysticercus granuloma, demyelinating disorders, and opportunistic infections in HIV patients such as toxoplasmosis and primary CNS lymphoma. Differential diagnosis depends on location, size, enhancement pattern and associated findings on imaging and other tests.
Glomerulonephritis, or inflammation of the glomeruli in the kidneys, can have many causes and presentations. It is generally classified based on the type and amount of protein and blood in the urine, as well as the parts of the kidney affected and whether the disease is primary or secondary. Common types include nephrotic disorders involving severe protein leakage, rapidly progressive glomerulonephritis, immune complex-mediated diseases, multiple myeloma-related diseases, and genetic diseases of the kidney. The document provides detailed descriptions of individual disease types, patterns seen on biopsy, associated conditions, and clinical manifestations.
This document provides an overview of neuronal migration disorders. It discusses the normal development of the cerebral cortex and process of neuronal migration. It then describes several types of neuronal migration disorders including lissencephaly, schizencephaly, polymicrogyrias, and neuronal heterotopias. For each type, it provides details on pathology, imaging findings, clinical features, and genetics when relevant. The document aims to educate on the anatomy, definitions, classification, and treatment of neuronal migration disorders.
Presentation1, radiological imaging of amyloidosis.Abdellah Nazeer
This document discusses radiological imaging findings of amyloidosis. It begins by describing the different subtypes and causes of amyloidosis. It then focuses on thoracic manifestations, describing imaging findings of lymphadenopathy, pulmonary amyloidosis including laryngotracheobronchial, localized nodular, and diffuse types. Finally, it discusses cardiac amyloidosis and associated imaging findings on modalities like CT, MRI, and echocardiography including concentric hypertrophy, thickened atrial walls, delayed enhancement patterns, and reduced systolic function.
This document discusses chronic kidney disease (CKD) and summarizes 6 case studies of CKD clinics. It finds that while CKD was traditionally defined by end-stage renal disease, treating earlier CKD stages can prevent progression to kidney failure. The case studies show different models of CKD care, from academic medical centers to private nephrology practices. Successful clinics utilize guidelines, coordinate with primary doctors, and conduct community outreach for education and early referrals. Barriers to CKD care include late referrals, lack of guidelines implementation, and financial challenges of preventative care.
Approach to a child with hematemesis or melenaAvijeet Mishra
1. A 32 month old male presented with a 2 day history of abdominal pain, black stools, and fresh blood in stool. Physical exam showed pallor and splenomegaly.
2. Initial workup revealed anemia and thrombocytopenia. Further imaging found portal cavernoma and esophageal varices.
3. In children, common causes of upper gastrointestinal bleeding include mucosal erosion, variceal bleeding from extrahepatic portal vein obstruction, and peptic ulcer disease. Initial management involves resuscitation followed by endoscopy for diagnosis and treatment.
The document discusses pulmonary eosinophilias, which are a heterogeneous group of disorders characterized by varying degrees of pulmonary or blood eosinophilia. It classifies the main types as Loeffler's syndrome, drug and toxin induced eosinophilic pneumonia, tropical pulmonary eosinophilia, and allergic bronchopulmonary aspergillosis. Loeffler's syndrome is characterized by transient pulmonary infiltrates associated with eosinophilia caused by parasites. Tropical pulmonary eosinophilia is caused by a hypersensitivity reaction to filarial parasites. Allergic bronchopulmonary aspergillosis involves a hypersensitivity response to inhaled fungal antigens like Aspergillus.
Henoch–Schönlein purpura (HSP) is a type of vasculitis that causes small vessel inflammation, especially in the skin, digestive tract, and kidneys. It is more common in children ages 4-7 and is often triggered by infections. The skin presents with purpuric rashes and joint pain. Gastrointestinal involvement can cause abdominal pain, bleeding, or intussusception. Kidney involvement results in proteinuria and potentially renal failure. Treatment involves steroids, immunosuppressants, and addressing complications like gastrointestinal bleeding. Prognosis is generally good but long term kidney issues can occasionally occur.
Sarcoidosis is a systemic granulomatous disease of unknown origin characterized by non-caseating granulomas that commonly affect the lungs. Pulmonary manifestations are present in 90% of patients and include bilateral hilar lymphadenopathy and pulmonary infiltrates. While two thirds of patients experience remission within ten years, one third have progressive disease that can lead to pulmonary fibrosis and, in rare cases, death. Computed tomography is more sensitive than chest x-rays in detecting lymph node enlargement and lung abnormalities associated with sarcoidosis.
Periventricular leukomalacia (pvl) is a form of brain damage that affects the white matter of brain, resulting in the cells in the white matter of brain either decaying or dying.
1) This case presentation discusses a 5-month-old child who presented with failure to thrive and was found to have electrolyte imbalance including hypokalemia, hyponatremia, and hypochloremia.
2) The child was diagnosed with metabolic alkalosis and further workup found high plasma renin activity, suggestive of Bartter syndrome.
3) Bartter syndrome is characterized by hypokalemic metabolic alkalosis with hypercalciuria and salt wasting due to a defect in sodium, chloride, and potassium transport in the kidney. The presentation, causes, and treatment of Bartter syndrome are discussed in detail in this case study.
This document provides information about hepatopulmonary syndrome (HPS). It defines HPS as the presence of liver disease, impaired oxygenation, and intrapulmonary vascular abnormalities. The pathophysiology involves widespread pulmonary vasodilatation leading to ventilation-perfusion mismatching and right-to-left shunting, causing hypoxemia. Clinical features include signs of liver disease in most patients and dyspnea in some. Diagnosis requires confirming the three criteria through tests like contrast echocardiography to detect intrapulmonary shunting.
Presentation1, radiological imaging of tuberous sclerosis.Abdellah Nazeer
Cortical or subependymal tubers and white matter abnormalities, renal angiomyolipomas, and cardiac rhabdomyomas are the most common radiographic manifestations of tuberous sclerosis. Neurological manifestations include calcified cortical/subcortical tubers seen on CT and MRI. Renal angiomyolipomas appear as fat-containing lesions on CT or MRI. Cardiac rhabdomyomas are seen in around half of patients and typically regress by age 4.
Childhood polyarteritis nodosa (CPAN) is a rare and often fatal disease that affects small and medium arteries, previously known as infantile polyarteritis nodosa. It is an acute, subacute or chronic disease characterized by loss of peripheral and visceral arteries. Asian descent appears to have a disproportionately high incidence. Clinically, it presents with fever, joint and muscle pain, hypersensitivity, and weight loss. Diagnosis involves laboratory tests showing increased inflammatory markers and imaging showing aneurysms. Treatment involves immunosuppressant medications like prednisolone and cyclophosphamide over the long term to prevent complications like stroke and organ failure.
This document discusses neurocutaneous syndromes, which are disorders characterized by abnormalities of the skin and central nervous system. Some key syndromes mentioned include neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, and Von Hippel-Lindau syndrome. Neurofibromatosis type 1 is described in detail, outlining its diagnostic criteria involving cafe-au-lait spots, freckling, and tumors. Tuberous sclerosis is also summarized, noting its diagnostic criteria involve tumors in multiple organ systems. Sturge-Weber syndrome links a port-wine stain on the face with leptomeningeal angiomas in the brain.
Presentation1.pptx, radiological imaging of sarcoidosis.Abdellah Nazeer
Sarcoidosis is an inflammatory disease characterized by non-caseating granulomas that can affect multiple organs. Pulmonary involvement occurs in up to 90% of patients and includes lymph node enlargement, micronodules with a perilymphatic distribution, fibrotic changes, and bilateral perihilar opacities. Extrapulmonary involvement such as skin and eye lesions is present in 25% of cases. HRCT is useful for evaluating the pulmonary manifestations which can vary significantly between patients.
Takayasu arteritis is a rare type of vasculitis that causes inflammation of the aorta and its main branches, which can lead to narrowed or aneurysmal arteries. It most commonly affects young Asian women. Treatment aims to relieve arterial inflammation and prevent complications through medications like glucocorticoids and immunosuppressants, though the condition can be challenging to manage long-term. Diagnosis involves examining blood tests, imaging of arteries, and ruling out other conditions through angiography, MRI, or ultrasound.
This document discusses various acyanotic congenital heart diseases. It begins by classifying congenital heart disease into cyanotic and acyanotic categories. It then further divides acyanotic congenital heart disease into those with a left-to-right shunt or increased pulmonary blood flow, such as atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA), and those without a shunt such as coarctation of the aorta. The document then goes on to describe the pathophysiology, clinical features, investigations and management of ASD, VSD, and PDA in more detail. It also briefly discusses Eisenmenger syndrome.
The document discusses ring enhancing lesions seen on neuroimaging. These lesions appear as hypodense masses that enhance with contrast. Common causes include metastatic lesions, primary brain tumors, pyogenic brain abscesses, tuberculomas, cysticercus granuloma, demyelinating disorders, and opportunistic infections in HIV patients such as toxoplasmosis and primary CNS lymphoma. Differential diagnosis depends on location, size, enhancement pattern and associated findings on imaging and other tests.
Glomerulonephritis, or inflammation of the glomeruli in the kidneys, can have many causes and presentations. It is generally classified based on the type and amount of protein and blood in the urine, as well as the parts of the kidney affected and whether the disease is primary or secondary. Common types include nephrotic disorders involving severe protein leakage, rapidly progressive glomerulonephritis, immune complex-mediated diseases, multiple myeloma-related diseases, and genetic diseases of the kidney. The document provides detailed descriptions of individual disease types, patterns seen on biopsy, associated conditions, and clinical manifestations.
This document provides an overview of neuronal migration disorders. It discusses the normal development of the cerebral cortex and process of neuronal migration. It then describes several types of neuronal migration disorders including lissencephaly, schizencephaly, polymicrogyrias, and neuronal heterotopias. For each type, it provides details on pathology, imaging findings, clinical features, and genetics when relevant. The document aims to educate on the anatomy, definitions, classification, and treatment of neuronal migration disorders.
Presentation1, radiological imaging of amyloidosis.Abdellah Nazeer
This document discusses radiological imaging findings of amyloidosis. It begins by describing the different subtypes and causes of amyloidosis. It then focuses on thoracic manifestations, describing imaging findings of lymphadenopathy, pulmonary amyloidosis including laryngotracheobronchial, localized nodular, and diffuse types. Finally, it discusses cardiac amyloidosis and associated imaging findings on modalities like CT, MRI, and echocardiography including concentric hypertrophy, thickened atrial walls, delayed enhancement patterns, and reduced systolic function.
This document discusses chronic kidney disease (CKD) and summarizes 6 case studies of CKD clinics. It finds that while CKD was traditionally defined by end-stage renal disease, treating earlier CKD stages can prevent progression to kidney failure. The case studies show different models of CKD care, from academic medical centers to private nephrology practices. Successful clinics utilize guidelines, coordinate with primary doctors, and conduct community outreach for education and early referrals. Barriers to CKD care include late referrals, lack of guidelines implementation, and financial challenges of preventative care.
This document provides information about chronic kidney disease (CKD). It discusses the definition and stages of CKD, causes and risk factors like diabetes and hypertension, clinical manifestations such as anemia and fluid retention, and the pathophysiology. It also covers the prevalence of CKD in India, recent research studies on genetic and cellular factors, and treatments including dietary modifications, dialysis, and kidney transplantation.
The vision, priorities & approach for ucl partners AHSNPM Society
UCL Partners AHSN aims to improve health outcomes for 6 million people through collaboration across healthcare organizations, universities, and local authorities. It will achieve this through 5 integrated programs in areas like cancer, cardiovascular disease, and mental health. The programs will focus on initiatives to improve treatment, increase clinical research participation, and better manage conditions. UCL Partners will work across boundaries and with industry partners to spread innovations and solutions at scale. Success requires strong partnerships, local leadership, and a focus on operational delivery rather than single control.
This document summarizes research on CLN3-Batten disease, a rare neurodegenerative lysosomal storage disorder. It describes a natural history study and biorepository at the National Institutes of Health to gather clinical data and biosamples from well-characterized patients over time and across institutions. The study aims to identify blood-based biomarkers for diagnosis and disease monitoring, clinically meaningful outcomes measures, and advance collaborative research efforts between patients, clinicians, and researchers to develop therapies for this currently untreatable disease.
Nephrotic syndrome in Sickle Cell Disease of Western Odisha, India: A case re...inventionjournals
Sickle cell disease causes a distinct pattern of glomerular dysfunction. Subjects with sickle cell disease (SCD) are known to develop many potential functional and structural renal abnormalities. Glomerular hypertension and hyper filtration are thought to play a major role in the development of glomerular disease in subjects with SCD. We reported 5 unusual cases of sickle cell disease presenting as nephrotic syndrome. KEYWORDS- Nephrotic syndrome, sickle cell disease
Nephrotic syndrome in Sickle Cell Disease of Western Odisha, India: A case re...inventionjournals
International Journal of Pharmaceutical Science Invention (IJPSI) is an international journal intended for professionals and researchers in all fields of Pahrmaceutical Science. IJPSI publishes research articles and reviews within the whole field Pharmacy and Pharmaceutical Science, new teaching methods, assessment, validation and the impact of new technologies and it will continue to provide information on the latest trends and developments in this ever-expanding subject. The publications of papers are selected through double peer reviewed to ensure originality, relevance, and readability. The articles published in our journal can be accessed online.
UK Biobank: A Prospective Cohort Epidemiology Studyamirhannan
The document discusses UK Biobank, a large prospective cohort study involving 500,000 UK participants. Extensive health and lifestyle data were collected at baseline along with biological samples. Genetic data from samples is being used in genome-wide association studies and other research to study relationships between genes, lifestyle factors and disease. Researchers worldwide can access anonymized UK Biobank data to study links between risk factors and various health conditions like cancer, heart disease and diabetes.
John Savil - Clinical Research in Scotland - 2010ipposi
This document discusses clinical research in Scotland. It notes that Scotland has a population of 5.3 million served by a single national health service, with strengths in areas like neuroscience, cancer, and metabolic diseases. Scotland performs well in clinical research relative to its size, with one-eighth of UK researchers and funding. It has advantages like electronic health records linking for the entire population and collaboration between research centers. Major research initiatives and infrastructure are described, with a focus on improving population health and developing partnerships with industry.
Creutzfeld-Jakob Disease: Diagnosis and Management of Prion Diseasesapplebyb
I. Dr. Brian Appleby discusses diagnosing and managing Creutzfeldt-Jakob disease (CJD), including using EEG, MRI, CSF tests and brain biopsy for diagnosis. Symptomatic treatments aim to improve quality of life.
II. Risk of CJD transmission in clinical settings is low with standard precautions. Care involves managing symptoms, supporting patients and caregivers, and facilitating end-of-life planning.
III. Current research includes studies of bioassays, diagnostic factors, and treatments like art therapy, with the goal of better understanding and caring for those with prion diseases.
This document summarizes a workshop in the United Kingdom focused on improving clinical trial capacity for Duchenne muscular dystrophy (DMD). Representatives from patient organizations, clinical sites, industry, and government research agencies attended to assess the current situation and develop strategies. DMD is a fatal genetic disorder in need of more treatment options. While larger centers are reaching capacity in multiple DMD studies, smaller centers require support to participate in trials. The group aimed to better utilize resources and expand trial access across the UK.
In the second of our Real World Data (RWD) webinars, we examined new techniques that go beyond the standard Body Mass Index, and how large data sets are being mined for meaningful real world applications.
Speakers included:
Dr. Naomi Allen, Senior epidemiologist, UK Biobank
Olof Dahlqvist Leinhard, PhD, Co-Founder & Chief Technology Officer, AMRA
Theresa Tuthill, PhD, Head of Imaging Methodologies, Biomarkers and Development Group, Early Clinical Development, Pfizer.
Mark Caulfield (Genomics England) - Understanding how genomics will transform...NHShcs
Genomics England is sequencing 100,000 whole genomes from NHS patients to transform healthcare in the UK. This will help diagnose rare inherited diseases, cancers, and infectious pathogens. It will generate new treatments and establish the UK as a leader in genomic medicine. Rare disease diagnoses have already increased by 25-30% due to whole genome sequencing. In the future, genomics will be routinely used to deliver more precise therapies tailored to patients' genetic profiles.
The document discusses a biomarker evaluation and translation program funded by the National Institute for Health Research (NIHR) in the UK. The program aims to develop a rigorous approach to evaluating protein biomarkers and translating promising ones into routine clinical use in the NHS. It focuses on biomarkers for chronic liver disease, renal cell carcinoma, and renal transplant, with plans to study over 4,000 patients total. The program involves multi-disciplinary collaboration between health economists, statisticians, scientists, clinicians, and industry to conduct the research.
Bioinformatics is the application of information technology to molecular biology. It involves developing computational methods to analyze large biological data sets, such as DNA sequences. The document discusses several applications of bioinformatics including sequencing genomes and proteins, developing databases to store biological data, and using this information to study diseases and develop treatments. It also provides examples of how genome sequencing is used to study extremophile microbes that could have applications in biotechnology such as waste cleanup and alternative energy production.
Big data in healthcare is not new, but there is now more data than ever before that can be analyzed. Professor Derek Bell discusses how big data from multiple sources can be used for population health planning, individual diagnosis and treatment when value is added through analysis. He provides examples of how longitudinal data from an individual can uncover medical risks and dynamic changes in health over time. Big data analytics have potential to improve health outcomes but also bring challenges regarding data access, privacy and public views that require ongoing discussion.
BioSHaRE Latest tools and services for data sharing - introductionLisette Giepmans
Introduction BioSHaRE conference (www.bioshare.eu) by Prof. Ronald Stolk, project coordinator on July 28th, 2015 on tools and services for data sharing for biobanks and researchers.
2019 02-21 Oxford Global 14th Biomarker Congress, Manchester, Alain van GoolAlain van Gool
1. Professor Alain van Gool presented on using clinical x-omics to drive personalized healthcare.
2. He described case studies where combining different omic approaches like genomics, metabolomics, and glycomics led to novel disease mechanisms and therapies for rare genetic diseases.
3. Van Gool advocated for increased collaboration and standardization of omic technologies to advance precision medicine and bring clinical multi-omics to higher diagnostic and therapeutic levels.
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TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Kat...rightmanforbloodline
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
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- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
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We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
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Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
3. Cilia in the body: motile & sensory/primary
PL. Beales. NewScientist | 2 November 2013
1674 Antonj van Leeuwenhoek
1990s: central role
development & tissue maintenance
1960s. Primary cilia not vestigial:
signalling and disease
Denys Wheatley,
Barbara Barnes
5. Cardenas-Rodriguez, Am J Med Genet C 2009
What is a ciliopathy? ‘tick box’
PCD
General population: Child obesity 20-30%, kidney cysts 1 in 500, retinal
degeneration 1 in 3000, polydactyly 1 in 500.
7. Clinical research
at UK MDT clinics
Diagnostics
Management
Registries
Trials
PCD
Alstrom
BBS
BBS
PCD
PCD
PCD
8. Other
UK cilia
lab
research:
snapshot
(incomplete!)
Leeds
Colin A. Johnson
Sheffield
Jarema Malicki
Albert Ong
Andrew Streets
London QMUL
Martin Knight
Newcastle
John Sayer
Birmingham
Tim Barrett
Edinburgh
Pleasantine Mill
Andrew Jarman
Toby Hurd
Harwell
Dominic Norris
Exeter
Helen Dawe
Bristol
David Stephens
Kingston
Evi Goggolidou
Dublin
Oliver Blacque
London UCL
CDL (Beales, Mitchison)
Stephen Hart
Chris O’Callaghan
Andrew Webster
Maria Bitner-Glindzicz
Jane Sowden
Alison Hardcastle/
Mike Cheetham
Dan JaggerLondon RBH
Amelia Shoemark,
Claire Hogg
Oxford
Angus Wann
Keith Gull
Cambridge
Maurizio
Chioccioli
Pietro Cicuta
Lancaster
Paul McKean
Michael Ginger
Southampton
Jane Lucas
Leicester
Rob Hirst
Chris O’Callaghan
10. Elizabeth Forsythe, Phil Beales
Phenotype prognosis in BBS
Genetic predictors of cardiovascular morbidity
in Bardet-Biedl syndrome. Clin Genet. 2015 87:343-9
11. Phil Beales group
BBS clinical research
• Human urine derived renal epithelial cell model for drug
screening
• Trialling retinal gene replacement therapy in BBS mice
• Modelling and drug-modifying of intraflagellar transport
12. Colin A. Johnson, Hannah Mitchison
Ciliogenesis screen reveals Jeune syndrome cause
SPATA7
NEK1
C21orf2
Miriam
Schmidts
C21orf2 mutations
Wheway et al. Nat Cell Biol. 2015 17:1074-87
13. • Using human urine derived renal epithelial cells for
mechanistic and drug treatment studies, in Joubert
patients (and some with OFD1)
• Patients and families interested can contact John directly.
Need a fresh urine sample from patient
• Already know the ciliary defects are druggable, so are
finding out which drugs work best next
• Presenting their work at the Joubert Syndrome UK patient
day on 31st Oct in South Shields (see
JoubertSyndromeUK Facebook page for details)
John Sayer, Shalabh Srivastava
Drug screening in Joubert syndrome, Nephronophthisis
John Sayer
Univ Newcastle
14. • PKD1 loss alters ciliogenesis in different cell models - trying to
identify how/why this is altered in ADPKD
• Test prostaglandin receptor inhibitors as a novel therapy in ADPKD
mice (3D cell assays growing kidney cysts in culture to test novel
therapeutic agents)
• Seeking new biomarkers of progression in ADPKD - changes in
expression of small RNA molecules (microRNAs) in patient urine
• Trialling novel imaging techniques to accurately measure changes in
kidney volume of patients over time
• ADPKD patients will be added to RaDaR (rare renal registry)
• Aiming to deeply characterise ~5000 within 2 years
Prof Albert Ong,
Dr Andrew Streets, Univ.
Sheffield Medical School
Andrew Streets (Albert Ong group)
Biomarkers and therapies for
autosomal dominant PKD
15. • PKD Charity is funding a study into the influence of
ATMIN on development and progression/severity of
ARPKD
• Looking at its roles in DNA damage repair and
ciliogenesis
• ATMIN KO mice have kidney defects and abnormal
cilia signalling - have identified changes in gene
expression in components of Wnt signalling in
ARPKD kidneys compared to controls
Paraskevi Goggolidou
Kingston University
Evi Goggolidou
Mouse models of autosomal recessive PKD
16. European Respiratory Society Taskforce
– Diagnostic guidelines for PCD - best practise for diagnosis of PCD
– Literature review to determine evidence-based (rather than consensus based) guidelines for
multiple diagnostic outcome measures - Report by end of 2017
H2020 funded COST Action BEAT-CILIA – lead, Jane Lucas for PCD Network
• Aim to develop research for treatments for PCD – networking of clinicians, basic scientists, patient
organisations
• Inaugural conference
Randomised Controlled Trial (RCT) of azithromycin maintenance therapy in
Primary Ciliary Dyskinesia – Multicentre participation
UCL-ICH: Readthrough therapy trials for selected PCD patients. Chris
O’Callaghan, Stephen Hart, Hannah Mitchison
UK PCD clinical research
UK PCD Network leads
Andrew Bush, Jane Lucas,
Claire Hogg, Amelia Shoemark
17. • Usher Syndrome Coalition joining Ciliopathy Alliance
• UCL Institute of Child Health
• Maria Bitner-Glindzicz, Jane Sowden: making iPS cells from patients with Usher.
iPS->RPE, photoreceptors.
• GOSH offer genetic panel testing for Usher here as an NHS service
• UCL Institute of Ophthalmology
• Andrew Webster, next generation sequencing gene discovery in retinal ciliopathies
• Alison Hardcastle, Mike Cheetham genetic cell biology of x-linked RP ciliopathies -
exploring translational readthrough therapy for RP2 in iPS derived RPE
• Prof Pete Coffey: First UK stem cell treatment to cure AMD related loss of vision
UCL research into RP and Usher syndrome
Patient iPS cells, genetic testing, stem cell therapy
19. Research conferences and meetings
Keystone
Cilia, Development
and Human Disease
2017/2018
Gordon Research Conference
Cilia, Mucus & Mucociliary
Interactions
2017
FASEB
The Biology of Cilia
and Flagella
2017
Special sessions:
ASCB
ARVO
ASN
ATS
ERS
Cilia2016
From Fundamental Biology to Human
Disease
4-7 October 2016
5th International caesar Conference
The Omnipresent Cilium - Structure,
Signalling, and Motion
30 Sept-2 Oct 2015
Biochemical Society
Cilia, Cytoskeleton
& Cancer
25-26 April 2016
Radboud New Frontiers
in Cilia Medicine
30 Nov 2015