Connective tissue disorders can affect the supporting tissues of the body. This document discusses Ehlers-Danlos syndrome and Marfan syndrome as two examples. Ehlers-Danlos syndrome is a hereditary disorder characterized by joint hypermobility and skin elasticity due to abnormalities in collagen. Marfan syndrome is also hereditary and affects connective tissues, causing skeletal abnormalities, vision and heart problems due to a genetic mutation affecting fibrillin. Both disorders demonstrate the importance of connective tissues and can be diagnosed through their distinct clinical manifestations and genetic testing.
Ehlers-Danlos Syndrome & HypermobilityHolly Clayton
An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
- The document discusses the diagnosis and management of type 2 diabetes mellitus. It describes the pathophysiology, risk factors, diagnostic criteria and complications seen at diagnosis. Early and intensive management is needed given the loss of beta cell function at diagnosis. Goals of management include achieving blood glucose, blood pressure and lipid targets to prevent complications. The ADA/EASD consensus statement recommends initial treatment with lifestyle modification and metformin, adding basal insulin or intensive insulin if targets are not met.
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
This document provides information on spinal muscular atrophy (SMA), including its genetics, epidemiology, classification, clinical features, diagnosis, management, and clinical trials of potential treatments. SMA is caused by a loss of motor neurons in the spinal cord due to a defect in the SMN1 gene and results in progressive muscle weakness. It is classified into five types based on age of onset and severity. Current management involves a multidisciplinary approach including nutritional and respiratory support as well as pharmacological treatments such as nusinersen, onasemnogene abeparvovec, and risdiplam which are being investigated in clinical trials as potential disease-modifying therapies.
This document discusses diabetes mellitus, including its causes, symptoms, diagnosis, and complications. It defines diabetes as a group of metabolic disorders characterized by high blood sugar levels over a prolonged period. The main types are type 1, where the body cannot produce enough insulin, and type 2, where tissues do not respond well to insulin. Complications of long-term high blood sugar levels include damage to small blood vessels (retinopathy, nephropathy), nerves (neuropathies), and increased risk of infections that can require amputation in severe cases of diabetic foot. The document also outlines risk factors, diagnostic tests, and the roles of insulin and other hormones in regulating blood sugar levels.
This document provides an overview of the pathophysiology of diabetes mellitus. It defines diabetes as a group of metabolic disorders resulting in hyperglycemia and dyslipidemia due to defects in insulin secretion or action. The document discusses the classification, symptoms, diagnosis and complications of both type 1 and type 2 diabetes. It also covers the physiology of insulin synthesis, secretion and action, as well as the risk factors and pathophysiology underlying different types of diabetes.
The document discusses diabetes mellitus and provides details about the endocrine pancreas. It defines diabetes as a metabolic disorder characterized by chronic hyperglycemia. The endocrine pancreas consists of islets of Langerhans containing beta cells that secrete insulin, alpha cells that secrete glucagon, and other minor cell types. The document classifies diabetes into type 1, type 2, and gestational diabetes and describes the pathogenesis of type 1 and type 2 diabetes.
Ehlers-Danlos Syndrome & HypermobilityHolly Clayton
An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
- The document discusses the diagnosis and management of type 2 diabetes mellitus. It describes the pathophysiology, risk factors, diagnostic criteria and complications seen at diagnosis. Early and intensive management is needed given the loss of beta cell function at diagnosis. Goals of management include achieving blood glucose, blood pressure and lipid targets to prevent complications. The ADA/EASD consensus statement recommends initial treatment with lifestyle modification and metformin, adding basal insulin or intensive insulin if targets are not met.
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
This document provides information on spinal muscular atrophy (SMA), including its genetics, epidemiology, classification, clinical features, diagnosis, management, and clinical trials of potential treatments. SMA is caused by a loss of motor neurons in the spinal cord due to a defect in the SMN1 gene and results in progressive muscle weakness. It is classified into five types based on age of onset and severity. Current management involves a multidisciplinary approach including nutritional and respiratory support as well as pharmacological treatments such as nusinersen, onasemnogene abeparvovec, and risdiplam which are being investigated in clinical trials as potential disease-modifying therapies.
This document discusses diabetes mellitus, including its causes, symptoms, diagnosis, and complications. It defines diabetes as a group of metabolic disorders characterized by high blood sugar levels over a prolonged period. The main types are type 1, where the body cannot produce enough insulin, and type 2, where tissues do not respond well to insulin. Complications of long-term high blood sugar levels include damage to small blood vessels (retinopathy, nephropathy), nerves (neuropathies), and increased risk of infections that can require amputation in severe cases of diabetic foot. The document also outlines risk factors, diagnostic tests, and the roles of insulin and other hormones in regulating blood sugar levels.
This document provides an overview of the pathophysiology of diabetes mellitus. It defines diabetes as a group of metabolic disorders resulting in hyperglycemia and dyslipidemia due to defects in insulin secretion or action. The document discusses the classification, symptoms, diagnosis and complications of both type 1 and type 2 diabetes. It also covers the physiology of insulin synthesis, secretion and action, as well as the risk factors and pathophysiology underlying different types of diabetes.
The document discusses diabetes mellitus and provides details about the endocrine pancreas. It defines diabetes as a metabolic disorder characterized by chronic hyperglycemia. The endocrine pancreas consists of islets of Langerhans containing beta cells that secrete insulin, alpha cells that secrete glucagon, and other minor cell types. The document classifies diabetes into type 1, type 2, and gestational diabetes and describes the pathogenesis of type 1 and type 2 diabetes.
This document provides an outline and overview of diabetes mellitus, including its classification, clinical presentation, investigations, management, and complications. It discusses the main types of diabetes (type 1, type 2, gestational, and MODY), risk factors, pathophysiology, diagnostic criteria. Key tests for diagnosis and monitoring such as HbA1c, oral glucose tolerance test, and criteria for prediabetes are summarized. The document outlines the epidemiology, presentations, assessments including history and examinations, general treatment objectives and management approaches for diabetes.
Scleroderma is a multisystem collagen vascular disease characterized by fibrosis of the skin and internal organs. It results from endothelial cell injury, fibroblast activation, and immune system involvement. The two main types are limited cutaneous systemic sclerosis, which affects the skin of the hands and face, and diffuse cutaneous systemic sclerosis, which has more extensive skin involvement. Major organ manifestations include pulmonary fibrosis, gastrointestinal tract abnormalities, heart and kidney involvement. Treatment focuses on preventing further organ damage through immunosuppression and addressing specific organ system complications.
The document discusses diabetes mellitus (DM), including its classification into types 1 and 2, gestational diabetes, and other types. It covers the anatomy and functions of the pancreas, which produces insulin and digestive enzymes. Diagnostic criteria for DM include hemoglobin A1C, fasting plasma glucose, and oral glucose tolerance tests. Complications of uncontrolled DM are also mentioned. Treatment involves lifestyle changes, insulin therapy, and managing comorbidities.
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
The document discusses chronic lymphocytic leukemia (CLL), including its definition, epidemiology, etiology, pathogenesis, clinical symptoms, diagnosis, staging, prognosis, and treatment. Some key points:
- CLL is characterized by the proliferation and accumulation of small, mature lymphocytes in the blood, bone marrow, and lymphoid tissues. It most commonly affects elderly adults.
- Diagnosis is based on blood cell counts and immunophenotyping of lymphocytes. Prognosis depends on factors like clinical stage, genomic abnormalities, and biomarker expression levels.
- Treatment involves chemotherapy, chemoimmunotherapy, targeted therapies, and supportive care. The appropriate treatment approach depends on a patient's risk
1) The document discusses pre-diabetes, which affects over 230 million people worldwide and is a risk factor for developing type 2 diabetes and cardiovascular disease.
2) It reports on a study of 50 pre-diabetic patients in India that found annual progression to diabetes was 5% and major complications included 20% cardiovascular, 6% cerebrovascular, 8% peripheral vascular disease, and 8% retinopathy.
3) Lifestyle interventions including nutrition, physical activity and weight management are recommended to reduce the risk of developing diabetes. Drug therapy may also help delay onset of type 2 diabetes in some cases.
This document provides an overview of diabetes mellitus (DM) presented by Dr. Mukesh Kumar Samota. It begins with definitions and classifications of DM, then discusses epidemiology, genetics, pathophysiology, risk factors, approaches to patients, management, and complications. Type 2 DM is the main focus. It is characterized by insulin resistance and impaired insulin secretion. Worldwide prevalence is rising due to obesity, sedentary lifestyles, and aging populations. Management involves lifestyle changes, medications, monitoring, and preventing complications through screening and treatment.
This document summarizes the treatment of granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis. It describes initial immunosuppressive therapy including glucocorticoids combined with cyclophosphamide or rituximab for moderate to severe disease. Maintenance immunosuppressive therapy options include methotrexate, azathioprine and low dose glucocorticoids, typically continued for 12-18 months after remission is achieved. Prophylactic treatments and management of organ system involvement are also outlined.
This document provides information about type 2 diabetes mellitus. It defines diabetes as a group of metabolic disorders resulting in hyperglycemia due to defects in insulin secretion or action. Type 2 diabetes is characterized as adult-onset and non-insulin dependent, involving both insulin resistance where insulin does not bind properly to cells and impaired insulin secretion. Symptoms include frequent urination, increased thirst and hunger, weight loss, and vision changes. Without proper management, type 2 diabetes can lead to long-term complications affecting the heart, blood vessels, eyes, kidneys, and nerves.
The worldwide explosion of obesity has resulted in an ever-increasing prevalence of type 2 diabetes. The importance of insulin resistance and β-cell dysfunction to the pathogenesis of type 2 diabetes was debated for a long time; many thought that insulin resistance was the main abnormality in type 2 diabetes, and that inability to secrete insulin was a late manifestation. This notion is now challenged. This presentation deals with the important contributing factors in the development of type 2 diabetes mellitus.
Shashikiran Umakanth made this presentation at the "First Endocrine Update Program” – ENDO EGYPT 2015, from 17-20 December 2015 in the Historic City of Luxor, Egypt. This endocrine update was organised by the Egyptian Association of Endocrinology , Diabetes and Atherosclerosis (EAEDA) in collaboration with the Endocrine Society, USA.
We all Know that the most dangerous medical condition in our modern life is cancer!
There are two types of this awful condition, BENIGN and MALIGNANT. The first is safe
and can be removed by many ways without large effects on the patients, but the last
one is very killing and can cause a lot of consequences on the patient, even death.
In my report, I will discuss one of the cancer's types that occur in the human body,
which is "Melanocytes tumors".
I mentioned everything about Melanocytes tumor, starting with signs and symptoms,
and finishing with diagnosis and treatment.
The Melanocytes are found in two areas of the human body, (Eye and skin). It can be
hidden for a lot of time without discovering by patients or doctors, so all people need
to be checked every month or years to be sure that they are safe from this killing
condition.
Also, this condition can be normal without problems and found in all people
approximately, such we called it "Nevus" or "Shama" in Arabic language which is one of
the beauty sings.
India has a high burden of diabetes, with over 61 million diabetic patients. Type 1 diabetes incidence is increasing, with around 78,000 children developing it annually. Genetic and environmental factors contribute to type 1 diabetes risk. Vaccination for type 1 diabetes aims to induce regulatory T-cells to prevent immune destruction of insulin-producing beta cells. While antigens and clinical trials show promise, challenges remain in identifying biomarkers, developing animal models, and determining optimal combinations or adjunct therapies.
Hiv associated dementia aids dementia complexEdson Mutandwa
This document outlines HIV-associated dementia (HAD), formerly known as AIDS dementia complex. It discusses the epidemiology, pathophysiology, risk factors, clinical features, diagnostic criteria, differential diagnosis, prognosis, workup, and management of HAD. Key points include that HAD risk is 1 in 1000 for those with HIV, incidence was previously 7% but declined with HAART and has begun increasing again. Pathogenesis involves HIV entry into the CNS via infected monocytes, cellular protein secretion, and HIV proteins damaging neurons. Diagnosis requires cognitive deficits in 2 domains impairing daily living with motor or behavioral abnormalities. Prognosis is typically rapid decline without treatment but improved survival with HAART. Management primarily involves HAART
This document discusses Langerhans cell histiocytosis (LCH), a rare disease characterized by abnormal proliferation of Langerhans cells. Some key points:
- LCH was first reported in 1893 and involves abnormal accumulation of dendritic cells called Langerhans cells in various organs.
- It most commonly affects bone, skin, lungs, and lymph nodes. Annual childhood incidence is 4-9 cases per million.
- Diagnosis requires demonstrating Birbeck granules or markers like CD1a on affected cells. Treatment depends on severity and organ involvement, ranging from surgery to chemotherapy. Prognosis is generally good, especially for isolated bone lesions.
Metabolic syndrome is a clustering of at least three of five medical conditions that increase the risk of cardiovascular disease and diabetes. These conditions include increased blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol levels. Metabolic syndrome affects over 47 million Americans and is caused by risk factors such as obesity, physical inactivity, genetics, and age. Managing metabolic syndrome involves making lifestyle changes focused on diet, exercise, and stress reduction as well as medication to treat individual risk factors as needed.
Noonan syndrome is a genetic disorder recognized in 1963 by Dr. Jacqadine Noonan, characterized by abnormal facial features, short stature, heart defects, bleeding problems, and skeletal malformations. It affects 1 in 1000 to 2500 people equally among males and females. Genetic testing and assessments of development are used to investigate potential cases, while management is problem-based without specific treatment and aims to address complications like heart issues, low self-esteem, and social difficulties related to physical abnormalities.
This document discusses autoimmune encephalitis, which occurs due to antibodies against neuronal cell proteins or synaptic receptors. It can comprise 5-10% of encephalitis cases. The most common type is anti-NMDAR encephalitis, which targets the NMDA receptor. It most often affects females under 18 and follows a predictable clinical course with psychiatric, neurological, and decreased consciousness symptoms. Diagnosis involves identifying antibodies in CSF or serum and MRI/EEG may show nonspecific abnormalities. Treatment involves immunotherapy like steroids, IVIG, plasma exchange, and rituximab. Outcomes range from full recovery to relapse or residual deficits.
This document summarizes several bullous diseases:
1. It describes the locations and characteristics of vesicles and bullae. Vesicles can form within or under the epidermis or between the dermis and epidermis.
2. It then focuses on three main immunobullous diseases - pemphigus, pemphigoid, and linear IgA bullous disease. Pemphigus is caused by antibodies against desmoglein proteins and features flaccid blisters. Pemphigoid features tense blisters caused by antibodies against basement membrane proteins. Linear IgA bullous disease clinically resembles pemphigoid.
3. Dermatitis herpetiformis is described
Hypermobile Ehlers-Danlos Syndrome & hypermobility spectrum disorders - A presentation.
I put this together for my own learning and to present to my peers. Feel free to use for teaching/education
Elastic Tissue disorders involves several conditions related to elastic fibers in the skin. Elastic fibers provide resilience and elasticity to skin and are composed of microfibrils surrounding an elastin core. Elastin is synthesized by fibroblasts and crosslinked to form mature elastic fibers predominantly in the reticular dermis. Several disorders result from accumulation or degeneration of elastic fibers, producing clinical and histopathologic features. These include focal dermal elastosis, elastofibroma, Favre-Racouchot syndrome, papular elastorrhexis, anetoderma, pseudoxanthoma elasticum, and elastosis perforans serpiginosa. Inherited connective tissue disorders can also
Elastic Tissue disorders involves several conditions related to elastic fibers in the skin. Elastic fibers provide resilience and elasticity to skin and are composed of microfibrils surrounding an elastin core. Elastin is synthesized by fibroblasts and crosslinked to form mature elastic fibers predominantly in the reticular dermis. Several disorders result from accumulation or degeneration of elastic fibers, producing clinical and histopathologic features. These include focal dermal elastosis, elastofibroma, Favre-Racouchot syndrome, papular elastorrhexis, anetoderma, and elastosis perforans serpiginosa. Inherited connective tissue disorders can also affect elastic fibers, including Ehlers
This document provides an outline and overview of diabetes mellitus, including its classification, clinical presentation, investigations, management, and complications. It discusses the main types of diabetes (type 1, type 2, gestational, and MODY), risk factors, pathophysiology, diagnostic criteria. Key tests for diagnosis and monitoring such as HbA1c, oral glucose tolerance test, and criteria for prediabetes are summarized. The document outlines the epidemiology, presentations, assessments including history and examinations, general treatment objectives and management approaches for diabetes.
Scleroderma is a multisystem collagen vascular disease characterized by fibrosis of the skin and internal organs. It results from endothelial cell injury, fibroblast activation, and immune system involvement. The two main types are limited cutaneous systemic sclerosis, which affects the skin of the hands and face, and diffuse cutaneous systemic sclerosis, which has more extensive skin involvement. Major organ manifestations include pulmonary fibrosis, gastrointestinal tract abnormalities, heart and kidney involvement. Treatment focuses on preventing further organ damage through immunosuppression and addressing specific organ system complications.
The document discusses diabetes mellitus (DM), including its classification into types 1 and 2, gestational diabetes, and other types. It covers the anatomy and functions of the pancreas, which produces insulin and digestive enzymes. Diagnostic criteria for DM include hemoglobin A1C, fasting plasma glucose, and oral glucose tolerance tests. Complications of uncontrolled DM are also mentioned. Treatment involves lifestyle changes, insulin therapy, and managing comorbidities.
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
The document discusses chronic lymphocytic leukemia (CLL), including its definition, epidemiology, etiology, pathogenesis, clinical symptoms, diagnosis, staging, prognosis, and treatment. Some key points:
- CLL is characterized by the proliferation and accumulation of small, mature lymphocytes in the blood, bone marrow, and lymphoid tissues. It most commonly affects elderly adults.
- Diagnosis is based on blood cell counts and immunophenotyping of lymphocytes. Prognosis depends on factors like clinical stage, genomic abnormalities, and biomarker expression levels.
- Treatment involves chemotherapy, chemoimmunotherapy, targeted therapies, and supportive care. The appropriate treatment approach depends on a patient's risk
1) The document discusses pre-diabetes, which affects over 230 million people worldwide and is a risk factor for developing type 2 diabetes and cardiovascular disease.
2) It reports on a study of 50 pre-diabetic patients in India that found annual progression to diabetes was 5% and major complications included 20% cardiovascular, 6% cerebrovascular, 8% peripheral vascular disease, and 8% retinopathy.
3) Lifestyle interventions including nutrition, physical activity and weight management are recommended to reduce the risk of developing diabetes. Drug therapy may also help delay onset of type 2 diabetes in some cases.
This document provides an overview of diabetes mellitus (DM) presented by Dr. Mukesh Kumar Samota. It begins with definitions and classifications of DM, then discusses epidemiology, genetics, pathophysiology, risk factors, approaches to patients, management, and complications. Type 2 DM is the main focus. It is characterized by insulin resistance and impaired insulin secretion. Worldwide prevalence is rising due to obesity, sedentary lifestyles, and aging populations. Management involves lifestyle changes, medications, monitoring, and preventing complications through screening and treatment.
This document summarizes the treatment of granulomatosis with polyangiitis (GPA), formerly known as Wegener's granulomatosis. It describes initial immunosuppressive therapy including glucocorticoids combined with cyclophosphamide or rituximab for moderate to severe disease. Maintenance immunosuppressive therapy options include methotrexate, azathioprine and low dose glucocorticoids, typically continued for 12-18 months after remission is achieved. Prophylactic treatments and management of organ system involvement are also outlined.
This document provides information about type 2 diabetes mellitus. It defines diabetes as a group of metabolic disorders resulting in hyperglycemia due to defects in insulin secretion or action. Type 2 diabetes is characterized as adult-onset and non-insulin dependent, involving both insulin resistance where insulin does not bind properly to cells and impaired insulin secretion. Symptoms include frequent urination, increased thirst and hunger, weight loss, and vision changes. Without proper management, type 2 diabetes can lead to long-term complications affecting the heart, blood vessels, eyes, kidneys, and nerves.
The worldwide explosion of obesity has resulted in an ever-increasing prevalence of type 2 diabetes. The importance of insulin resistance and β-cell dysfunction to the pathogenesis of type 2 diabetes was debated for a long time; many thought that insulin resistance was the main abnormality in type 2 diabetes, and that inability to secrete insulin was a late manifestation. This notion is now challenged. This presentation deals with the important contributing factors in the development of type 2 diabetes mellitus.
Shashikiran Umakanth made this presentation at the "First Endocrine Update Program” – ENDO EGYPT 2015, from 17-20 December 2015 in the Historic City of Luxor, Egypt. This endocrine update was organised by the Egyptian Association of Endocrinology , Diabetes and Atherosclerosis (EAEDA) in collaboration with the Endocrine Society, USA.
We all Know that the most dangerous medical condition in our modern life is cancer!
There are two types of this awful condition, BENIGN and MALIGNANT. The first is safe
and can be removed by many ways without large effects on the patients, but the last
one is very killing and can cause a lot of consequences on the patient, even death.
In my report, I will discuss one of the cancer's types that occur in the human body,
which is "Melanocytes tumors".
I mentioned everything about Melanocytes tumor, starting with signs and symptoms,
and finishing with diagnosis and treatment.
The Melanocytes are found in two areas of the human body, (Eye and skin). It can be
hidden for a lot of time without discovering by patients or doctors, so all people need
to be checked every month or years to be sure that they are safe from this killing
condition.
Also, this condition can be normal without problems and found in all people
approximately, such we called it "Nevus" or "Shama" in Arabic language which is one of
the beauty sings.
India has a high burden of diabetes, with over 61 million diabetic patients. Type 1 diabetes incidence is increasing, with around 78,000 children developing it annually. Genetic and environmental factors contribute to type 1 diabetes risk. Vaccination for type 1 diabetes aims to induce regulatory T-cells to prevent immune destruction of insulin-producing beta cells. While antigens and clinical trials show promise, challenges remain in identifying biomarkers, developing animal models, and determining optimal combinations or adjunct therapies.
Hiv associated dementia aids dementia complexEdson Mutandwa
This document outlines HIV-associated dementia (HAD), formerly known as AIDS dementia complex. It discusses the epidemiology, pathophysiology, risk factors, clinical features, diagnostic criteria, differential diagnosis, prognosis, workup, and management of HAD. Key points include that HAD risk is 1 in 1000 for those with HIV, incidence was previously 7% but declined with HAART and has begun increasing again. Pathogenesis involves HIV entry into the CNS via infected monocytes, cellular protein secretion, and HIV proteins damaging neurons. Diagnosis requires cognitive deficits in 2 domains impairing daily living with motor or behavioral abnormalities. Prognosis is typically rapid decline without treatment but improved survival with HAART. Management primarily involves HAART
This document discusses Langerhans cell histiocytosis (LCH), a rare disease characterized by abnormal proliferation of Langerhans cells. Some key points:
- LCH was first reported in 1893 and involves abnormal accumulation of dendritic cells called Langerhans cells in various organs.
- It most commonly affects bone, skin, lungs, and lymph nodes. Annual childhood incidence is 4-9 cases per million.
- Diagnosis requires demonstrating Birbeck granules or markers like CD1a on affected cells. Treatment depends on severity and organ involvement, ranging from surgery to chemotherapy. Prognosis is generally good, especially for isolated bone lesions.
Metabolic syndrome is a clustering of at least three of five medical conditions that increase the risk of cardiovascular disease and diabetes. These conditions include increased blood pressure, high blood sugar, excess body fat around the waist, and abnormal cholesterol levels. Metabolic syndrome affects over 47 million Americans and is caused by risk factors such as obesity, physical inactivity, genetics, and age. Managing metabolic syndrome involves making lifestyle changes focused on diet, exercise, and stress reduction as well as medication to treat individual risk factors as needed.
Noonan syndrome is a genetic disorder recognized in 1963 by Dr. Jacqadine Noonan, characterized by abnormal facial features, short stature, heart defects, bleeding problems, and skeletal malformations. It affects 1 in 1000 to 2500 people equally among males and females. Genetic testing and assessments of development are used to investigate potential cases, while management is problem-based without specific treatment and aims to address complications like heart issues, low self-esteem, and social difficulties related to physical abnormalities.
This document discusses autoimmune encephalitis, which occurs due to antibodies against neuronal cell proteins or synaptic receptors. It can comprise 5-10% of encephalitis cases. The most common type is anti-NMDAR encephalitis, which targets the NMDA receptor. It most often affects females under 18 and follows a predictable clinical course with psychiatric, neurological, and decreased consciousness symptoms. Diagnosis involves identifying antibodies in CSF or serum and MRI/EEG may show nonspecific abnormalities. Treatment involves immunotherapy like steroids, IVIG, plasma exchange, and rituximab. Outcomes range from full recovery to relapse or residual deficits.
This document summarizes several bullous diseases:
1. It describes the locations and characteristics of vesicles and bullae. Vesicles can form within or under the epidermis or between the dermis and epidermis.
2. It then focuses on three main immunobullous diseases - pemphigus, pemphigoid, and linear IgA bullous disease. Pemphigus is caused by antibodies against desmoglein proteins and features flaccid blisters. Pemphigoid features tense blisters caused by antibodies against basement membrane proteins. Linear IgA bullous disease clinically resembles pemphigoid.
3. Dermatitis herpetiformis is described
Hypermobile Ehlers-Danlos Syndrome & hypermobility spectrum disorders - A presentation.
I put this together for my own learning and to present to my peers. Feel free to use for teaching/education
Elastic Tissue disorders involves several conditions related to elastic fibers in the skin. Elastic fibers provide resilience and elasticity to skin and are composed of microfibrils surrounding an elastin core. Elastin is synthesized by fibroblasts and crosslinked to form mature elastic fibers predominantly in the reticular dermis. Several disorders result from accumulation or degeneration of elastic fibers, producing clinical and histopathologic features. These include focal dermal elastosis, elastofibroma, Favre-Racouchot syndrome, papular elastorrhexis, anetoderma, pseudoxanthoma elasticum, and elastosis perforans serpiginosa. Inherited connective tissue disorders can also
Elastic Tissue disorders involves several conditions related to elastic fibers in the skin. Elastic fibers provide resilience and elasticity to skin and are composed of microfibrils surrounding an elastin core. Elastin is synthesized by fibroblasts and crosslinked to form mature elastic fibers predominantly in the reticular dermis. Several disorders result from accumulation or degeneration of elastic fibers, producing clinical and histopathologic features. These include focal dermal elastosis, elastofibroma, Favre-Racouchot syndrome, papular elastorrhexis, anetoderma, and elastosis perforans serpiginosa. Inherited connective tissue disorders can also affect elastic fibers, including Ehlers
Elastic Tissue disorders involves several conditions related to elastic fibers in the skin. Elastic fibers provide resilience and elasticity to skin and are composed of microfibrils surrounding an elastin core. Elastin is synthesized by fibroblasts and crosslinked to form mature elastic fibers predominantly in the reticular dermis. Several disorders result from accumulation or degeneration of elastic fibers, producing clinical and histopathologic features. These include focal dermal elastosis, elastofibroma, Favre-Racouchot syndrome, papular elastorrhexis, anetoderma, pseudoxanthoma elasticum, and elastosis perforans serpiginosa. Inherited connective tissue disorders can also
This document provides an overview of arthrogryposis multiplex congenita (AMC), including:
1) A definition of AMC as a nonprogressive condition characterized by multiple joint contractures present at birth involving at least two body regions.
2) A discussion of classification systems and the etiology, which is usually absence of fetal movement leading to contractures.
3) Details on clinical features including common joint involvement in the upper and lower limbs, classification of distal arthrogryposis types, and other arthrogryposis conditions.
Dr. Mina Bissell gave a presentation on extracellular matrices. She discussed how ECMs are composed of fibrous proteins and glycosaminoglycans that form an interlocking mesh. ECMs perform important functions such as providing structural support and compartmentalizing tissues. They also present signals to cells and serve as highways for cell migration. Basement membranes are a specialized ECM layer that surround epithelia and other cell types. Collagen and laminins are major ECM proteins that form intricate structures and provide strength. Mutations in these proteins can lead to diseases like osteogenesis imperfecta and muscular dystrophies.
Connective tissue disorders are conditions that affect connective tissue and can be inherited or autoimmune in nature. The document discusses several common connective tissue disorders including Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, scurvy, systemic lupus erythematosus, Sjogren syndrome, and mixed connective tissue disease. Each disorder is summarized with key details on etiology, clinical features, and prognosis when available.
Scleroderma is a rare autoimmune disease characterized by hardening of the skin and internal organs. There are two main forms: localized, which only affects the skin, and systemic, which also damages internal organs like the heart, lungs, and kidneys. Systemic scleroderma can be limited, mainly affecting the hands, arms, and face, or diffuse, rapidly progressing and affecting more widespread areas of skin and internal organs. Common complications include pulmonary arterial hypertension, esophageal dysfunction, and kidney or heart failure. There is no cure, but organ complications are treated.
This document discusses genetics and human diseases. It begins with an introduction to genetics, noting that humans have around 30,000 genes. It then describes different types of human diseases, including those determined genetically, environmentally, or with contributions from both. The document discusses different types of genetic mutations and how they can cause inherited diseases or cancers. It also outlines different patterns of Mendelian inheritance including autosomal dominant, autosomal recessive, and sex-linked traits. Specific genetic disorders are provided as examples, such as Marfan syndrome and familial hypercholesterolemia.
This document discusses genetics and human diseases caused by genetic mutations. It begins with an introduction to genetics, noting that humans have around 30,000 genes. It then discusses different types of genetic mutations including point mutations, frameshift mutations, and trinucleotide repeat mutations. The document outlines different patterns of genetic inheritance including autosomal dominant, autosomal recessive, and sex-linked inheritance. It provides examples of diseases that follow each pattern of inheritance. The document concludes by discussing specific genetic diseases in more depth, including phenylketonuria (PKU), galactosemia, and how mutations in enzymes, receptors, and structural proteins can cause disease.
The document discusses the embryology of the upper limb and hand development. It notes that between 5-8 weeks of gestation is the critical period for limb development. The zones of polarizing activity and apical ectodermal ridge play important roles in directing growth. Thumb hypoplasia is often associated with radial deficiencies and other syndromes. The document covers classifications of thumb hypoplasia and radial deficiencies and discusses evaluation and treatment considerations.
This document discusses scleroderma, a chronic autoimmune disease characterized by fibrosis of the skin and internal organs. It defines the two main types as limited scleroderma, which affects the hands, face and forearms, and diffuse scleroderma, which affects the whole body. Raynaud's phenomenon, skin thickening, gastrointestinal issues, lung fibrosis and pulmonary hypertension are common clinical features. The document provides details on pathogenesis, prevalence, risk factors, clinical assessment criteria and organ-specific complications of scleroderma.
A 60-year-old woman presented with painful, sclerotic hands and fingers due to progressive cutaneous scleroderma. She was started on a compounded topical cream containing ketamine, baclofen, gabapentin, verapamil, and pentoxifylline, which provided significant pain relief and improved sensation within a month. At a 6-month follow up, she had been largely weaned off opioid pain medications. The customized treatment targeted the pathophysiology of the condition and helped manage her debilitating symptoms.
This document provides information on several connective tissue disorders and hypermobility syndromes that can affect children, including Benign Joint Hypermobility Syndrome (BJHS), Ehlers-Danlos Syndromes (EDS), Marfan Syndrome, Loeys-Dietz Syndrome, and Stickler Syndrome. It describes the clinical features, diagnostic criteria, inheritance patterns, genetic causes, and multidisciplinary management of these conditions. Key points include that BJHS and the hypermobility type of EDS may exist on a spectrum, cardiovascular involvement is a major concern in Marfan Syndrome, Loeys-Dietz Syndrome involves severe arterial abnormalities, and Stickler Syndrome can affect the eyes, ears, skeleton
1) Systemic sclerosis is a disorder of connective tissue that causes hardening and tightening of the skin. It occurs more often in females and peaks between ages 40-50.
2) There are two main types: limited cutaneous which mainly affects the skin, and diffuse cutaneous which has more severe internal organ involvement.
3) Symptoms include thickened skin, especially on the hands, as well as Raynaud's phenomenon and potential lung, heart, kidney, or gastrointestinal complications. Management focuses on treating specific organ involvement and symptoms.
Connective Tissue Disorders Slides - January 17, 2023CHC Connecticut
This document discusses several genetic connective tissue disorders including Ehlers Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, Shprintzen Goldberg syndrome, Cutis Laxa, and Osteogenesis Imperfecta. It highlights the importance of identifying these disorders to allow for timely detection of serious complications and management by multiple medical specialists. Connective tissues are the most abundant tissues in the body and connect, support, bind or separate other tissues. Identification of a connective tissue disorder through genetic diagnosis guides appropriate care.
Collagen is the most abundant protein in mammals and plays an important structural role. There are 28 types of collagen that serve different functions. Collagen disorders can be genetic, autoimmune, or due to other causes. They commonly cause symptoms like skin rashes, fatigue, and joint/muscle pain. Major collagen disorders include Ehlers-Danlos syndrome, lupus, scleroderma, Sjogren's syndrome, and epidermolysis bullosa. Diagnosis involves tests and biopsies while treatment focuses on managing symptoms through medications, physical therapy, and lifestyle changes.
Velocardiofacial syndrome (VCFS) is caused by a microdeletion on chromosome 22q11.2. It is one of the most common multiple anomaly syndromes, affecting around 1 in 2000-4000 live births. Characteristic features include congenital heart defects (present in 70% of cases), cleft palate, learning disabilities, and psychiatric disorders. Diagnosis is made through fluorescent in situ hybridization testing, which can detect the microdeletion. Treatment requires a multidisciplinary approach to manage the various structural and functional issues that may impact any organ system.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Adhd Medication Shortage Uk - trinexpharmacy.comreignlana06
The UK is currently facing a Adhd Medication Shortage Uk, which has left many patients and their families grappling with uncertainty and frustration. ADHD, or Attention Deficit Hyperactivity Disorder, is a chronic condition that requires consistent medication to manage effectively. This shortage has highlighted the critical role these medications play in the daily lives of those affected by ADHD. Contact : +1 (747) 209 – 3649 E-mail : sales@trinexpharmacy.com
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
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.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
TEST BANK For Community Health Nursing A Canadian Perspective, 5th Edition by...Donc Test
TEST BANK For Community Health Nursing A Canadian Perspective, 5th Edition by Stamler, Verified Chapters 1 - 33, Complete Newest Version Community Health Nursing A Canadian Perspective, 5th Edition by Stamler, Verified Chapters 1 - 33, Complete Newest Version Community Health Nursing A Canadian Perspective, 5th Edition by Stamler Community Health Nursing A Canadian Perspective, 5th Edition TEST BANK by Stamler Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Pdf Chapters Download Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Pdf Download Stuvia Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Study Guide Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Ebook Download Stuvia Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Questions and Answers Quizlet Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Studocu Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Quizlet Test Bank For Community Health Nursing A Canadian Perspective, 5th Edition Stuvia Community Health Nursing A Canadian Perspective, 5th Edition Pdf Chapters Download Community Health Nursing A Canadian Perspective, 5th Edition Pdf Download Course Hero Community Health Nursing A Canadian Perspective, 5th Edition Answers Quizlet Community Health Nursing A Canadian Perspective, 5th Edition Ebook Download Course hero Community Health Nursing A Canadian Perspective, 5th Edition Questions and Answers Community Health Nursing A Canadian Perspective, 5th Edition Studocu Community Health Nursing A Canadian Perspective, 5th Edition Quizlet Community Health Nursing A Canadian Perspective, 5th Edition Stuvia Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Pdf Chapters Download Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Pdf Download Stuvia Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Study Guide Questions and Answers Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Ebook Download Stuvia Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Questions Quizlet Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Studocu Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Quizlet Community Health Nursing A Canadian Perspective, 5th Edition Test Bank Stuvia
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
3. INTRODUCTION
♦CONNECTIVE TISSUE
Connective tissue (CT) is a tissue that connects, supports, binds, or
separates other tissues or organs; forming a framework to support
body tissues and organs.
CT is one of the four basic types of human tissue along with epithelial
tissue; muscle tissue and nervous tissue.
CT is made up of cells and extracellular matrix.
3/31/2021
3
4. INTRODUCTION
CT is made up of :-
- Fibrous components ( collagen and elastin) (
- GAGs
- Proteoglycans
CT is classified into two:-
- Loose irregular CT
- Dense irregular CT
3/31/2021
4
5. INTRODUCTION
Specialized CT includes:-
- Dense regular CT ( found in tendons and ligaments)
- Cartilage
- Adipose tissue
- Lymphatic tissue
- Blood
- Bone
3/31/2021
5
6. INTRODUCTION
♦CONNECTIVE TISSUE DISORDERS
A group of disorders that affect the supporting tissue of our body
> 200 disorders that affect CT
Many of the disorders result from abnormal immune system activity
with inflammation in tissues.
Has overlapping clinical features
3/31/2021
6
7. INTRODUCTION
Categorization of connective tissue disorders:
1) Heritable connective tissue disorders
- Many of them rare; some of the more common ones:-
- Ehlers-Danlos syndrome (EDS)
- Epidermolysis bullosa
- Marfan syndrome
- Osteogenesis imperfecta
- Stickler syndrome
- Alport syndrome
- Beals syndrome / Congenital contractural arachnodactyly
- Loeys-Dietz syndrome
3/31/2021
7
8. 2) Autoimmune connective tissue disorders
- Here immune system produces antibodies that target the body’s own
tissue for attack Examples:-
- Dermatomyositis and polymyositis
- Rheumatoid arthritis
- Scleroderma
- Sjogren’s syndrome
- SLE
- Vasculitis
- Mixed connective tissue diseases
3) Other connective tissue disorders
- Peyronie’s disease
- Scurvy
3/31/2021
8
9. EHLERS-DANLOS SYNDROME
A group of more than 10 different inherited disorders characterized by
abnormalities of collagen metabolism that result in varying degrees of
joint laxity
skin hyperelasticity
tissue fragility.
Ehlers, in 1901, described patients with loose joints and subcutaneous
hemorrhages.
Danlos, in 1908, added subcutaneous tumors that may
develop at pressure points to the description.
3/31/2021
9
10. CAUSES
vary significantly
Collagen disorganization and/or abnormal bundle size is correlated with
clinical evidence in joints; skin and blood vessels
Mutation with specific molecular defect of 1,3 & 5 collagen
Mutations in the TNXB gene, result in the reduction of tenascin X
>90 % - Autosomal dominant inheritance, autosomal recessive, or X-
linked
3/31/2021
10
11. EPIDEMIOLOGY
Prevalence: 1 case in ~ 400 000 people
No racial predominance exist
Almost equal sex-related prevalences
Usually diagnosed in young adults
3/31/2021
11
12. CLINICAL FEATURES
Skin manifestations
- Common to almost all group is a unique appearance of the skin
vary from mild laxity to extreme laxity with delayed relaxation
extremely thin skin with poor wound healing; use of sutures usually a
problem.
Molluscoid pseudotumors at sites of friction, such as the elbows, heels, and
knees.
3/31/2021
12
14. Other features are different for the variants:-
Joint hypermobility & hyperextensibility>> hx of recurrent dislocations
Shoulder dislocation is often the initial sign of EDS.
Bleeding gums, easy brusiability with persistent hyperpigmentation (
Scoliosis, spondylolisthesis, and atlantoaxial instability
Vascular and intestinal ruptures
3/31/2021
14
17. OLDER CLASSIFICATION OF EDS
Type 1- Gravis form
- affects 43% of patients
- autosomal dominant inheritance
- kyphoscoliosis; hallus valgus; flat feet and genu recurvatum
common in addition to skin and joint abnomalities
- prematurity with rupture of the fetal membranes is specific to this
type
Type 2- Mitis form
- affects 35% of patients
- AD inheritance
- xed by mild appearance of the same features of type 1
3/31/2021
17
18. Type 3- Benign familiar hypermobile form
- affects 10% of patients
- AD inheritance
- minimal or no skin changes; but they do have a striking
hyperextesibility in many joints
Type 4- Ecchymotic or arterial form
- affects 6% of patients
- Autosomal recessive inheritance or sometimes AD pattern
- unique translucent skin with bruises and purpuric lesions
- sudden death can occur after visceral perforation or after rupture
of a large vessel; most commonly an abdominal or splenic vessel
3/31/2021
18
19. Type 5- X-linked form
- affects 5% of patients
- inherited in X-linked recessive pattern
- highly extensible skin and orthopaedic abnormalities are common
Type 6- Ocular form
- affects 2% of patients
- inherited in autosomal recessive pattern
- severely affected group
- ocular fragility can cause retinal hemorrhage and detachment
3/31/2021
19
20. Type 7- Arthrochalasis multiplex congenita
- affects 3% of patients
- Autosomal recessive inheritance or AD pattern
- joint hyperextensibility; spontaneous joint dislocation usually with
rapid reduction is common
Type 8- Periodontal form
- rare; with AD inheritance
- have gingival periodontal inflammation ( gingival resorption and
permanent loss of the teeth are common by the time patient is aged 30
years)
3/31/2021
20
21. Type 9 – X-linked cutis laxa
- rare & inherited in x-linked recessive pattern
- have xtic bilateral bony prominences on the occiput
- chronic diarrhea and orthostatic hypotension are unique findings
Type 10 – fibronectin deficiency
Type 11- benign hypermobile joint syndrome
3/31/2021
21
22. 1997 CLASSIFICATION
EDS is clinically heterogeneous and has been classically divided into the
following types with underlying collagen abnormality being different for
each type:
- Classical ___ formerly types 1 & 2
- Hypermobile __ formerly type 3
- Vascular__ formerly type 4
- Kyphoscoliotic __ formerly type 6
- Arthrochalasis __ formerly type 7 ( proA1 or proA2 chain deficiency
of collagen type 1)
- Dermatosparaxis__ formerly type 7 ( deficiency of procollagen N-
terminal peptidase)
- Other ___ formerly types 5; 8; 9; 10; 11
3/31/2021
22
25. COMPLICATIONS OF EDS
Prone to trauma
Pregnancy related complications
Bleeding risks during surgery
DIFFERENTIAL DIAGNOSIS
Cutis Laxa ( Elastolysis)
Loeys-Dietz syndrome
Pseudoxanthoma Elasticum
3/31/2021
25
26. WORKUP
Radiographs may show calcification of subcutaneous nodules
Skin biopsy- histologically dermal collagen fibers are disorganized
with whorled appearance
3/31/2021
26
27. TREATMENT
No specific treatments to correct the biochemical defects responsible
for the collagen abnormalities.
One isolated report showed that patients with type 4 disease benefited
from oral vitamin C at 4g/d.
Joint dislocations - treated with standard immobilization methods
Extreme caution is mandatory in any surgical maneuver
3/31/2021
27
28. TREATMENT. . .
Wound dehiscence and healing complications are common.
Careful positioning is required to prevent injury, subluxation, or
dislocation.
Posterior spinal fusion with stable instrumentation for kyphoscoliosis.
The management of vascular and visceral ruptures
3/31/2021
28
29. MARFAN SYNDROME
One of the most common inherited disorders of connective tissue
associated with:-
Long limbs
Skeletal abnormalities
Cardiovascular abnormalities
Ocular abnormalities
1st described by Antonin Bernand Jean Marfan (1896). He was a
French pediatrician.
Incidence of 1 in 3000 to 5000 individuals
No ethnic or gender predilection known
3/31/2021
29
31. MFS...
Inherited almost exclusively in an autosomal dominant manner and is
caused by mutations in the fibrillin gene. Rare case reports of
recessive FBN1 mutations is also described.
In less than 10% of cases with typical Marfan phenotype; no mutation
in FBN1 is identified. In some of these individuals; an inactivating
mutation in a gene encoding for TGFBR may be resposible.
25- 30%- sporadic.
3/31/2021
31
32. FBN1
Located at chromosome 15
Code for FBN1 protein, a large glycoprotein closely associated with
elastin.
It is an important component of both elastic and nonelastic connective
tissues.
In addition to their presence in the aortic media and suspensory
ligaments of the lens, fibrillin microfibrils are found in skin, tendon,
cartilage, and periosteum.
Abnormal or absent fibrillin alters tissue elasticity.
3/31/2021
32
33. MFS PATHOGENESIS
How FBN1 or TGFBR mutations lead to disease is not well
understood is not well understood at molecular level. Among the
proposed mechanisms are alterations in:-
♦ Calcium binding to EGF-like domains ( supported by the loci of
some FBN1 mutations)
♦ Increased bioavailability of transforming growth factor (TGF)-
beta.
3/31/2021
33
34. CLINICAL MANIFESTATIONS OF MFS
Aortic disease
- aneurysmal dilatation; aortic regurgitation and dissection is the main
cause of morbidity and mortality in the MFS.
- the aorta in MFS tends tend to be stiffer and less distensible than in
controls
- dilatation of the aorta is found in approximately 50% of children with
MFS and progress with time
- all aortic roots with diameter ≥40 mm are considered dilated
Cardiac disease
- MVP is frequently identified in patients with MFS
- the frequency of MVP in MFS increases with age and is greater in
women
3/31/2021
34
35. CLINICAL MANIFESTATIONS OF MFS
Skeletal findings
- individuals with MFS have excess linear growth of long bones and
joint laxity
- the individuals are taller than predicted by their genetic background;
which is generally; but not necessarily; tall compared to general
population standards
- Patients with Marfan syndrome are typically tall—usually
attaining a height greater than 6 feet in adult life.
- Paradoxically, some individuals with MFS have reduced joint
mobility, particularly of the elbow and digits.
3/31/2021
35
41. SKELETAL FINDINGS . . .
Abnormal US/LS and arm span/height — Individuals with MFS
have disproportionately long extremities in comparison to the length of
the trunk (dolichostenomelia), so the upper segment to lower segment
(US/LS) ratio is decreased and the arm span to height ratio is
increased.
The crossleg sign is the ability to touch the floor with the foot of the
crossing-over leg.
3/31/2021
41
44. SKELETAL FINDINGS . . .
Scoliosis and kyphosis — scoliosis is usually the first to be
diagnosed. Presence of either of the following findings is diagnostic
for scoliosis:
With the patient bending forward, observation of a vertical difference of ≥1.5
cm between the ribs of the left and right hemithorax.
A Cobb’s angle of at least 20 degrees.
Protrusio acetabuli — Acetabular protrusion can be diagnosed by
plain x-ray, CT or MRI. On an anterior-posterior (AP) pelvic film,
medial protrusion of the acetabulum ≥3 mm beyond the ilio-ischial
(Kohler) line is diagnostic.
3/31/2021
44
46. CLINICAL MANIFESTATIONS OF MFS···
Facial features — inclodes: dolichocephaly [reduced cephalic index
or head width/length ratio], enophthalmos, downslanting palpebral
fissures, malar hypoplasia, retrognathia
Ocular abnormalities —
Ectopia lentis occurs in 50 to 80 percent with MFS.
Patients with MFS develop secondary myopia due to increased axis globe
length.
Other ocular findings in MFS include flat cornea , retinal detachment,
glaucoma, and early cataract formation.
3/31/2021
46
48. CLINICAL MANIFESTATIONS OF MFS···
Dural ectasia — Dural ectasia results from enlargement of the spinal
canal owing to progressive ectasia of dura and neural foramina and to
erosion of vertebral bone.
Pneumothorax
Skin striae
Other — Recurrent or incisional herniae, joint hypermobility and high
arched palate may occur but are not included in the systemic score
since these clinical features are considered nonspecific.
3/31/2021
48
49. REVISED GHENT CRITERIA FOR DIAGNOSIS OF MFS
In the absence of family history of MFS, the presence of one of any of the
following criteria is diagnostic for MFS:
Aortic criterion (aortic diameter Z≥2 or aortic root dissection) and ectopia lentis*
Aortic criterion (aortic diameter Z≥2 or aortic root dissection) and a causal FBN1 mutation
Aortic criterion (aortic diameter Z≥2 or aortic root dissection) and a systemic score ≥7 *
Ectopia lentis and a causal FBN1 mutation that has been identified in an individual with
aortic aneurysm
In the presence of family history of MFS (as defined by the above criteria), the
presence of one of any of the following criteria is diagnostic for MFS:
Ectopia lentis
Systemic score ≥7 points*
Aortic criterion (aortic diameter Z≥2 above 20 years old, Z≥3 below 20 years, or aortic root
dissection)*
For criteria with an asterisk (*), the diagnosis of MFS can be made only in the
absence of discriminating features of Shprintzen-Goldberg syndrome (SGS),
Loeys-Dietz syndrome (LDS), or vascular Ehlers-Danlos syndrome (vEDS) and
after TGFBR1/2, collagen biochemistry, or COL3A1 testing if indicated.
3/31/2021
49
50. REVISED GHENT CRITERIA
Systemic score — The revised Ghent nosology includes the following scoring system for
systemic features:
Wrist AND thumb sign: 3 points (wrist OR thumb sign: 1 point)
Pectus carinatum deformity: 2 (pectus excavatum or chest asymmetry: 1 point)
Hindfoot deformity: 2 points (plain pes planus:1 point)
Pneumothorax: 2 points
Dural ectasia: 2 points
Protrusio acetabuli: 2 points
Reduced upper segment/lower segment ratio (US/LS) AND increased arm span/height AND no
severe scoliosis: 1 point
Scoliosis or thoracolumbar kyphosis: 1 point
Reduced elbow extension (≤170 degrees with full extension): 1 point
Facial features (at least 3 of the following 5 features: dolichocephaly [reduced cephalic index or head
width/length ratio], enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia): 1
point
Skin striae: 1 point
Myopia >3 diopters: 1 point
Mitral valve prolapse (all types): 1 point
A systemic score ≥7 indicates systemic involvement.
3/31/2021
50
52. WORKUP
Molecular genetic test can assist but not diagnostic
Standard radiography
- Hand radiographs – arachnodactly shown by metacarpal index
- Spine radiographs- kyphoscoliosis
- Pelvic radiograph– may show protrusio acetabuli
- CXR – may show pectus excavatum or carinatum
- Foot x-ray – pes planovalgus
CT – may detect subtle protrusio acetabuli
MRI– may detect subtle protrusio acetabuli and dural ectasia
Echocardiography and ECG– detect cardiac abnormality
Slit-lamp ocular examination– lens and retinal abnormality
3/31/2021
52
54. MANAGEMENT
No specific procedure to cure MFS but systemic-specific treatment
Cardiovascular
restriction of vigorous physical exercise
advised to avoid contact sports, exercise to exhaustion, and especially isometric
activities which entail the Valsalva maneuver
routine and noninvasive monitoring of aortic size
elective surgical repair of the aorta.
Elective replacement of aortic root disease before critical enlargement is
preferable to emergency repair for marked dilatation or dissection.
Recommend elective operation for patients with MFS at an external diameter of
≥50 mm to avoid acute dissection or rupture
Two approaches are used for aortic root replacement: a composite valve graft
and valve-sparing aortic root replacement.
3/31/2021
54
55. CARDIOVASCULAR...
Beta blockers
decrease myocardial contractility and pulse pressure ,improve the elastic
properties of the aorta particularly in patients with an aortic root diameter <40
mm
beta blockers should be administered to all patients with MFS and aortic
aneurysm to reduce the rate of aortic dilatation unless contraindicated
Patients who do not tolerate use of beta blocker may benefit from an
angiotensin receptor blocker (preferably losartan ), an angiotensin converting
enzyme inhibitor, or a calcium channel blocker (preferably verapamil ).
NB: Ay evidence of aortic dilatation must be treated medically or
surgically before any spinal reconstruction is attempted
3/31/2021
55
56. CARDIOVASCULAR...
Mitral valve repair or replacement is recommended for severe mitral
regurgitation with associated symptoms or progressive left ventricular
dilatation or systolic dysfunction.
Obstetric complications appear to be increased in women with MFS.
There are high rate of premature deliveries (15 percent), mainly due to
preterm premature rupture of membranes and cervical insufficiency, and
a markedly increased combined rate of fetal and neonatal mortality (7
percent).
Cesarean delivery is preferred in patients with an aortic diameter >40
mm, aortic dissection, severe aortic regurgitation or heart failure.
Women with MFS should receive pregnancy counseling. They should
understand that aortic rupture or dissection can occur during pregnancy
at any root size.
3/31/2021
56
57. CONT..
Spine
- Scoliosis- three dimensional deformity in curvature of spine
- is the most common major skeletal deformity in patients with MFS
- more than 60% of patients with MS has some form of scoliosis; but few needs treatment
depending on the degree of deformity
- The double major right thoracic-left lumbar curve is the most common type among type
among patients with MFS; whereas a single type is seen in idiopathic type In contrast; in
MFS the curve is progressive and painful
- Tx:- - Observation- serial radiographs every 3-4bmonths is recommended for curves
less than 25 degrees
- Bracing ( works if growth is remaining ; curves 25-40 degrees and slow
progressing ones); controversial and many believe the curve progress regardless of
bracing and require operative intervention Mainly used as a bridge to future surgery
- Surgery– for curves greater than 40-50 degrees or with abnormal sagittal
curvature
- Posterior spinal fusion and segmental spinal instrumentation; along with
autogenous bone grafting
3/31/2021
57
58. CONT..
Ophthalmologic evaluation is suggested annually due to propensity to
lens subluxation (ectopia lentis), cataract, glaucoma, and retinal
detachment.
Eye care includes vision correction for myopia and photocoagulation for
retinal tears and detachment. Early monitoring and aggressive refraction
is recommended for children with MFS to prevent amblyopia.
A dislocated lens should not be removed surgically unless more
conservative means of correcting vision are ineffective. Indications for
surgical lens extraction include lens opacity with poor visual function,
refractive error not amenable to optical correction, impending complete
luxation, and lens induced glaucoma or uveitis.
3/31/2021
58
59. MANAGEMENT...
Ligamentous laxity
- fibrillin abnormality leading to abnormally stretching ligaments
- mostly doesn’t cause problem; and sometimes considered as a gift
- may manifest as severe pes planovalgus or joint dislocations, especially of the
patellofemoral joint. There may be a history of ankle sprains secondary to
ligamentous laxity. In general, treatment of these conditions should be as
conservative as possible because obtaining and maintaining joint stability can be
difficult in these patients.
Feet
-Flat foot deformity– due to prolonged ligamentous laxity
- mostly not paiful; treated if painful with orthotics & rarely surgery
Acetabular protrusio-- observation unless severe symptoms develop
3/31/2021
59
60. SCURVY
It is clinical manifestation of vitamin C deficiency
The disease is rare and is now most commonly seen in patients following
extreme diets, such as patients with anorexia nervosa.
Historically, scurvy was described in sailors whose diets lacked vitamin C
during long sea voyages.
Ascorbic acid synthesis is not done in the body and relies on external
sources
Vitamin C is necessary for the hydroxylation of lysine and proline to
hydroxylysine and hydroxyproline, two amino acids crucial to the proper
cross-linking of the triple helix of collagen. The result is primitive collagen
formation throughout the body, including the blood vessels, which
predisposes to hemorrhage
Leads to decreased collagen formation and collagen formed is of poor quality
3/31/2021
60
62. SCURVY. . .
Scurvy develops after 6 to 12 months of dietary deprivation
of vitamin C.
Osteoblasts become dysfunctional, with failure to produce osteoid
tissue and form new bone.
New bone formation is prevented and old bone becomes brittle
Hemorrhage tendency due to fragility of capillary walls
-bleeding subperiosteally and marrow particularly in metaphysis
adjacent to actively growing epiphysis
Interferes with growth of osteoblasts into calcified bone
Failure of conversion of calcified cartilage into bone
3/31/2021
62
63. CLINICAL FEATURES OF SCURVY
Loss of appetite, irritability, and failure to thrive.
Pseudoparalysis– extremeties held immobile due to muscle spasm
The limbs become exquisitely tender, so much so that the infant screams on
movement of the affected areas. The child lies still in the frog-leg
position to minimize pain, a posture called pseudoparalysis.
Subperiosteal h’ge- palpable soft & extremely tender swelling fixed to
bone
Subperiosteal hemorrhage is a distinctive sign that usually occurs in the distal
femur and tibia and proximal humerus.
Bluish tender bleeding and swollen gum
Hemorrhage may also develop in the soft tissues, including the joints,
kidneys, and gut, and petechiae may be seen.
Epiphyseal separation distal femur; upper tibia and humerus
Scorbic rosaries due to costochondral separation
3/31/2021
63
64. IMAGING
Pencil thin cortex – osteopenia is the first change seen, with thinning of the
cortices.
White Line of Frankel - the zone of provisional calcification increases in width
and opacity because of failure of resorption of the calcified cartilaginous matrix,
and it stands out in comparison to the severely osteopenic metaphyses.
Trummerfield’s zone of rarefaction
Wimberger’s ring sign - the margins of the epiphyses appear relatively sclerotic,
a finding termed ringing of the epiphyses, or Wimberger sign.
Pelkan’s Spur - lateral spur formation at the ends of the metaphysis is produced
by outward projection of the zone of provisional calcification.
Corner sign of Park –or angle sign of scurvy is a peripheral metaphyseal cleft
caused by a defect in the spongiosa and cortex adjacent to the provisional zone
of calcification.
Scurvy line or scorbutic zone - a radiolucent transverse band adjacent to the
dense provisional zone.
Ground-glass appearance
3/31/2021
64
66. DDX
osteomyelitis
Polio
Leukemia
Purpuric conditions, such as Henoch-Schönlein purpura and
thrombocytopenic purpura
Syphilis
3/31/2021
66
67. TREATMENT
Vitamin C supplements & rich food
Scurvy is prevented by adequate intake of vitamin C, defined as
25 mg/day for infants, 30 to 40 mg/day for children and 40
to 75 mg/day for adults. Intoxication does not occur.
Immobilize #s and painful joints with plaster splints
3/31/2021
67