Hurler syndrome
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Hurler syndrome is a rare genetic disorder caused by a deficiency of the alpha-L-iduronidase enzyme, which is responsible for breaking down mucopolysaccharides. It is characterized by developmental delays, distinctive facial features, joint stiffness, and organ damage. While there is no cure, treatments like enzyme replacement therapy and bone marrow transplantation can help manage symptoms.
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Hurler Syndrome
Hurler Syndrome is a rare genetic disorder caused by the absence of an enzyme that breaks down complex sugars, causing them to build up in the lysosome and produce severe symptoms. Sidney Van Hook, a three-year-old with Hurler Syndrome, received a bone marrow transplant which was successful but she still has some symptoms. New medications like Aldurazyme can replace the missing enzyme to stop sugar buildup and bone marrow transplants or gene therapy may help treat the disease.
Mucopolysachridosis
Mucopolysaccharidoses are hereditary lysosomal storage disorders caused by deficiencies in enzymes that break down glycosaminoglycans. This results in glycosaminoglycan accumulation in tissues and organs, leading to symptoms like facial abnormalities, short stature, corneal clouding, developmental delays, bone deformities, organ enlargement, and neurological issues. Diagnosis involves testing urine for glycosaminoglycan levels and measuring enzyme activity levels. Treatment focuses on managing symptoms through supportive care, physical therapy, surgeries, and enzyme replacement therapy or hematopoietic stem cell transplantation to reduce clinical effects.
Apert sydrome
Apert syndrome is a rare genetic disorder characterized by skull and facial abnormalities and webbed fingers/toes. It results from mutations in the FGFR2 gene located on chromosome 10. Symptoms include fusion of skull bones limiting head growth, hearing loss, sweating issues, skin and hair problems, and fusion of cervical vertebrae in the neck. Treatment involves multiple skull and midface surgeries over time to separate bones and improve shape, as well as operations to separate fingers/toes and managing sleep apnea with medications, tonsil removal, or CPAP as needed.
Lysosomal storage diseases
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Gargoylism
Hurler Syndrome is a disturbance of mucopolysaccharide metabolism which is characterized by an elevated mucopolysaccharide excretion level in the urine.
There is an excessive intracellular accumulation of both Chondroitin Sulfate B and Heparitin Sulfate in those tissues and organs where they are normally found.
Inherited as an autosomal recessive trait.
Apert Syndrome
Apert syndrome is a genetic condition characterized by premature fusion of skull bones resulting in an abnormal head shape. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal recessive pattern. Symptoms include skull abnormalities, fusion of the fingers and toes, and sometimes intellectual disabilities. While there is no cure, treatments focus on corrective surgeries to separate skull bones and digits.
Crouzon syndrome
Crouzon Syndrome.
Primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities
Neuro Behcet’s
Behçet's disease is a rare, recurrent systemic inflammatory disorder of unknown cause characterized by oral and genital ulcers. It can involve multiple organ systems including the brain and nervous system. Diagnosis is based on clinical criteria including recurrent oral ulcers along with eye, skin, vascular, joint or neurological symptoms. Brain involvement is identified via MRI and lumbar puncture. Treatment involves corticosteroids and immunosuppressants to reduce inflammation.
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Hurler Syndrome
Hurler Syndrome is a rare genetic disorder caused by the absence of an enzyme that breaks down complex sugars, causing them to build up in the lysosome and produce severe symptoms. Sidney Van Hook, a three-year-old with Hurler Syndrome, received a bone marrow transplant which was successful but she still has some symptoms. New medications like Aldurazyme can replace the missing enzyme to stop sugar buildup and bone marrow transplants or gene therapy may help treat the disease.
Mucopolysachridosis
Mucopolysaccharidoses are hereditary lysosomal storage disorders caused by deficiencies in enzymes that break down glycosaminoglycans. This results in glycosaminoglycan accumulation in tissues and organs, leading to symptoms like facial abnormalities, short stature, corneal clouding, developmental delays, bone deformities, organ enlargement, and neurological issues. Diagnosis involves testing urine for glycosaminoglycan levels and measuring enzyme activity levels. Treatment focuses on managing symptoms through supportive care, physical therapy, surgeries, and enzyme replacement therapy or hematopoietic stem cell transplantation to reduce clinical effects.
Apert sydrome
Apert syndrome is a rare genetic disorder characterized by skull and facial abnormalities and webbed fingers/toes. It results from mutations in the FGFR2 gene located on chromosome 10. Symptoms include fusion of skull bones limiting head growth, hearing loss, sweating issues, skin and hair problems, and fusion of cervical vertebrae in the neck. Treatment involves multiple skull and midface surgeries over time to separate bones and improve shape, as well as operations to separate fingers/toes and managing sleep apnea with medications, tonsil removal, or CPAP as needed.
Lysosomal storage diseases
Lysosomal storage diseases (LSDs) are a group of over 50 inherited metabolic disorders caused by defects in lysosomal function. The main types are sphingolipidoses, mucopolysaccharidoses, and glycoproteinoses. Symptoms often involve the brain and nervous system. On MRI, the corpus callosum may be not visualized or partially visualized in some LSDs. Histopathology reveals neuronal storage material, spheroids in white matter, and membranous cytoplasmic bodies in neurons. LSDs can also affect dogs and cats, with clinical signs appearing in early life and pathology showing tissue storage.
Gargoylism
Hurler Syndrome is a disturbance of mucopolysaccharide metabolism which is characterized by an elevated mucopolysaccharide excretion level in the urine.
There is an excessive intracellular accumulation of both Chondroitin Sulfate B and Heparitin Sulfate in those tissues and organs where they are normally found.
Inherited as an autosomal recessive trait.
Apert Syndrome
Apert syndrome is a genetic condition characterized by premature fusion of skull bones resulting in an abnormal head shape. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal recessive pattern. Symptoms include skull abnormalities, fusion of the fingers and toes, and sometimes intellectual disabilities. While there is no cure, treatments focus on corrective surgeries to separate skull bones and digits.
Crouzon syndrome
Crouzon Syndrome.
Primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial abnormalities
Neuro Behcet’s
Behçet's disease is a rare, recurrent systemic inflammatory disorder of unknown cause characterized by oral and genital ulcers. It can involve multiple organ systems including the brain and nervous system. Diagnosis is based on clinical criteria including recurrent oral ulcers along with eye, skin, vascular, joint or neurological symptoms. Brain involvement is identified via MRI and lumbar puncture. Treatment involves corticosteroids and immunosuppressants to reduce inflammation.
Lysosomal Storage Disease
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
Lysosomal storage diseases
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Gaucher Disease
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Sjogren syndrome
This document provides information on Sjögren's syndrome including its definition, epidemiology, pathogenesis, clinical manifestations, diagnostic criteria, and treatment approaches. Sjögren's syndrome is a chronic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands resulting in dry eyes and dry mouth. It primarily affects middle-aged women and has a prevalence of 0.5-1%. The pathogenesis involves lymphocytic infiltration of the exocrine glands and B lymphocyte hyperreactivity. Clinical manifestations include dry eyes, dry mouth, arthritis, and involvement of other organ systems. Diagnosis is based on symptoms, objective measures of ocular and oral involvement, histopathology, and serology. Treatment focuses on
Ehlers-Danlos syndromes(EDS)
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.
Marfan syndrome
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Mucopolysaccharidoses in children
The document discusses lysosomal storage disorders called mucopolysaccharidoses (MPS). MPS are caused by deficiencies of enzymes that break down glycosaminoglycans, leading to lysosomal accumulation in cells. This causes cellular dysfunction and clinical features. Symptoms vary but can include coarse facial features, bone abnormalities, organomegaly, developmental delays, and corneal clouding. Diagnosis involves enzyme testing and imaging. Management focuses on supportive care, enzyme replacement therapy, hematopoietic stem cell transplantation, and surgery. Complications range from hearing loss to cardiovascular and pulmonary involvement.
Niemann Pick Disease (Nafisa Nawal Islam)
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Turner syndrome
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
sjogren's syndrome
Sjogren's syndrome is an autoimmune disease characterized by dry mouth and dry eyes due to lymphocytic infiltration and destruction of the salivary and lacrimal glands. It was first described in 1933 by Swedish ophthalmologist Henrik Sjogren. The disease causes immune-mediated inflammation of the salivary, lacrimal, and sweat glands. Diagnosis involves evaluating symptoms, signs of dryness, blood tests for autoantibodies, and biopsy of the salivary glands showing lymphocytic infiltration. Treatment focuses on relieving dryness symptoms with artificial tears and saliva, as well as immunosuppressants in severe cases.
Ectodermal dysplasia
Ectodermal dysplasia is a genetic condition characterized by abnormal development of structures derived from embryonic ectoderm such as hair, teeth, nails and sweat glands. The most common types are hypohidrotic (anhidrotic) and hydrotic ectodermal dysplasia. Symptoms include sparse hair, abnormal nails, missing or malformed teeth, lack of sweat glands and dry skin prone to infection. Treatment focuses on dental care, temperature regulation, artificial tears and infection prevention. The condition is caused by mutations in genes controlling ectodermal development and can be diagnosed through clinical features, imaging and genetic testing.
Neurofibromatosis
Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.
Lysosomal storage disorders
Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes. This results in the accumulation of substrates in the lysosomes which causes cellular dysfunction. Some examples discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Fabry disease. The document provides an overview of the causes and characteristics of these lysosomal storage disorders.
Prader willi syndrome
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Haemoglobinopathies sickle cell anemia
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
Klinefelter’s Syndrome
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Fanconi anemia
Fanconi anemia is a rare genetic disorder that affects DNA repair and increases cancer risk. It is caused by mutations in one of several genes involved in the FA DNA repair pathway. Symptoms include bone marrow failure, physical abnormalities, and blood cancers. While there is no cure, treatment focuses on managing symptoms and complications through blood transfusions, antibiotics, bone marrow transplants, and cancer therapies.
Prader willi
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
Mucopolysaccharidoses
definition ,types,causes,presentations,most common types,diagnosis ,differential diagnosis ,treatment ,prevention
Mucopolisacaridosis
Este documento describe la mucopolisacaridosis, un grupo de trastornos hereditarios causados por la falta de enzimas lisosomales que degradan los glicosaminoglicanos. Esto causa la acumulación progresiva de estos glicosaminoglicanos en los tejidos, lo que produce manifestaciones en múltiples sistemas. Se describen 7 tipos de mucopolisacaridosis dependiendo de la enzima deficiente y sus síntomas, así como opciones de tratamiento como el trasplante de células madre y terapia de re
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Lysosomal Storage Disease
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
Lysosomal storage diseases
Lysosomal storage diseases are a group of disorders caused by deficiencies in lysosomal enzymes, leading to an accumulation of substrates. Some key lysosomal storage diseases discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Krabbe disease, and Batten disease. Gaucher disease results from glucocerebrosidase deficiency and causes liver and spleen enlargement. Tay-Sachs disease is fatal in most cases due to hexosaminidase A deficiency, causing mental retardation and cherry red spots. Niemann-Pick disease involves sphingomyelinase deficiency and causes liver/spleen enlargement and neurological symptoms.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Gaucher Disease
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Sjogren syndrome
This document provides information on Sjögren's syndrome including its definition, epidemiology, pathogenesis, clinical manifestations, diagnostic criteria, and treatment approaches. Sjögren's syndrome is a chronic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands resulting in dry eyes and dry mouth. It primarily affects middle-aged women and has a prevalence of 0.5-1%. The pathogenesis involves lymphocytic infiltration of the exocrine glands and B lymphocyte hyperreactivity. Clinical manifestations include dry eyes, dry mouth, arthritis, and involvement of other organ systems. Diagnosis is based on symptoms, objective measures of ocular and oral involvement, histopathology, and serology. Treatment focuses on
Ehlers-Danlos syndromes(EDS)
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.
Marfan syndrome
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Mucopolysaccharidoses in children
The document discusses lysosomal storage disorders called mucopolysaccharidoses (MPS). MPS are caused by deficiencies of enzymes that break down glycosaminoglycans, leading to lysosomal accumulation in cells. This causes cellular dysfunction and clinical features. Symptoms vary but can include coarse facial features, bone abnormalities, organomegaly, developmental delays, and corneal clouding. Diagnosis involves enzyme testing and imaging. Management focuses on supportive care, enzyme replacement therapy, hematopoietic stem cell transplantation, and surgery. Complications range from hearing loss to cardiovascular and pulmonary involvement.
Niemann Pick Disease (Nafisa Nawal Islam)
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Turner syndrome
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
sjogren's syndrome
Sjogren's syndrome is an autoimmune disease characterized by dry mouth and dry eyes due to lymphocytic infiltration and destruction of the salivary and lacrimal glands. It was first described in 1933 by Swedish ophthalmologist Henrik Sjogren. The disease causes immune-mediated inflammation of the salivary, lacrimal, and sweat glands. Diagnosis involves evaluating symptoms, signs of dryness, blood tests for autoantibodies, and biopsy of the salivary glands showing lymphocytic infiltration. Treatment focuses on relieving dryness symptoms with artificial tears and saliva, as well as immunosuppressants in severe cases.
Ectodermal dysplasia
Ectodermal dysplasia is a genetic condition characterized by abnormal development of structures derived from embryonic ectoderm such as hair, teeth, nails and sweat glands. The most common types are hypohidrotic (anhidrotic) and hydrotic ectodermal dysplasia. Symptoms include sparse hair, abnormal nails, missing or malformed teeth, lack of sweat glands and dry skin prone to infection. Treatment focuses on dental care, temperature regulation, artificial tears and infection prevention. The condition is caused by mutations in genes controlling ectodermal development and can be diagnosed through clinical features, imaging and genetic testing.
Neurofibromatosis
Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.
Lysosomal storage disorders
Lysosomal storage disorders are a group of inherited metabolic diseases caused by deficiencies of lysosomal enzymes. This results in the accumulation of substrates in the lysosomes which causes cellular dysfunction. Some examples discussed include Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, and Fabry disease. The document provides an overview of the causes and characteristics of these lysosomal storage disorders.
Prader willi syndrome
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Haemoglobinopathies sickle cell anemia
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
Klinefelter’s Syndrome
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Fanconi anemia
Fanconi anemia is a rare genetic disorder that affects DNA repair and increases cancer risk. It is caused by mutations in one of several genes involved in the FA DNA repair pathway. Symptoms include bone marrow failure, physical abnormalities, and blood cancers. While there is no cure, treatment focuses on managing symptoms and complications through blood transfusions, antibiotics, bone marrow transplants, and cancer therapies.
Prader willi
Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder.
PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals
Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13.
PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans.
PWS affects males and females with equal frequency and affects all races and ethnicities
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Carbohydrates
- Glycosaminoglycans (GAGs) are long, negatively charged, unbranched heteropolysaccharide chains composed of repeating disaccharide units. The major GAGs include hyaluronic acid, chondroitin sulfate, keratin sulfate, dermatan sulfate, heparin, and heparan sulfate.
- GAGs are important structural components of connective tissues and play roles in cell signaling and adhesion. They bind large amounts of water and lubricate joints.
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Lipoid proteinosis- Urbach wiethe disease - A rare case... dr.suresh kumar
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International Journal of Recent Trends in Science and Technology Volume 10, Issue 2, 2014.
http://statperson.com/Journal/ScienceAndTechnology/Volume10Issue2.php
Please find your Research Article IJRTSAT_10_2_24.
Old Occupations
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MUCOPOLISACARIDOSIS
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Histiocytosis x by dr kartik sood
Histiocytosis X refers to a group of syndromes involving abnormal proliferation of histiocytes, a type of immune cell. Langerhans cell histiocytosis is a specific disease within this group characterized by abnormal proliferation of Langerhans cells in tissues. Pulmonary Langerhans cell histiocytosis primarily affects young adult smokers and presents with nonspecific symptoms like cough, breathlessness, and chest pain. Diagnosis involves chest imaging showing characteristic nodules and cysts as well as pathology identification of Langerhans cells. Treatment involves smoking cessation and corticosteroids or chemotherapy for severe disease.
Histiocytosis
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GLYCOSAMINO GLYCANS
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Mucopolisacaridosis
La mucopolisacaridosis es un grupo de enfermedades genéticas causadas por la deficiencia de enzimas lisosomales, lo que provoca la acumulación de metabolitos de glucosaminoglicanos en los tejidos. Esto causa daño celular y orgánico. El diagnóstico se basa en la clínica y niveles anormales de enzimas o metabolitos en orina/sangre. Aunque no existe cura, los tratamientos buscan mejorar la calidad de vida de los pacientes.
Iron Deficiency Anaemia
Iron deficiency anemia is the most common form of anemia globally. It develops due to blood loss, poor diet, or impaired iron absorption. The patient presented has low red blood cell and hemoglobin levels, indicating iron deficiency anemia. Treatment involves oral or intravenous iron supplementation. Oral iron can fully treat most cases of iron deficiency anemia, but often requires 3-6 months for complete recovery. Intravenous iron is recommended when a faster recovery is needed, such as before surgery. Common side effects of oral iron include nausea, abdominal discomfort, and black stools.
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Porphyria
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This document discusses two metabolic disorders: Histiocytosis X and Niemann-Pick Disease. Histiocytosis X is characterized by proliferation of Langerhans cells and presents as eosinophilic granuloma, Hand-Schuller Christian syndrome, or Letterer-Siwe disease. It commonly involves bones, skin and oral mucosa. Treatment depends on localization but may include surgery, radiation or steroids. Niemann-Pick Disease results from lipid processing enzyme deficiencies, causing lipid accumulation and is classified into three types with varying symptoms and prognosis. Both disorders can initially present in the head and neck region.
Anemia
This document provides information about anemia. It begins with an introduction stating that anemia is a major problem in India, affecting many women and contributing to maternal deaths. The objectives of the document are then outlined, including defining anemia, classifying types, and discussing causes, symptoms, investigations, treatment and prevention. Several types of anemia are described such as iron deficiency, megaloblastic, and sickle cell anemia. Risk factors, signs and symptoms, normal values, and investigations like hematocrit and hemoglobin levels are explained. The document concludes with sections on management, treatment recommendations including iron supplementation, and benefits of therapy like improved cognition and survival.
Anemia ppt
The document discusses anemia, including its definition, causes, types, symptoms, diagnosis, treatment, nursing care, and prevention. It provides details on iron deficiency anemia, anemia of chronic disease, thalassemia, sickle cell anemia, and the nursing process for patients with anemia. The document serves as an overview of anemia and aims to educate on this common blood disorder.
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Similar to Hurler syndrome
General examination
The document describes the process for examining pediatric patients. It involves general examination of vital signs, growth parameters, and structures of ectodermal origin. Local examination includes extraoral inspection of head and face structures and intraoral soft tissue and hard tissue examination. Examination methods depend on the child's age, using lap-to-lap position for children under 2 and examining in the dental chair for those over 3. The examination provides an overall assessment of the patient's health and development and identifies any abnormalities requiring medical referral.
Genetic disorders during prenatal development
This document discusses genetic disorders that can occur during prenatal development. It notes that genetic disorders are caused by problems in the genetic code and are responsible for one-third of all birth defects. Genetic disorders are grouped into three categories: chromosome number abnormalities, chromosome structure abnormalities, and gene mutations. Some examples of specific genetic disorders are discussed for each category, along with potential causes during prenatal development like maternal diseases, drug use, and teratogens. The document concludes with sections on prevention of genetic disorders and diagnosis of potential issues during prenatal testing.
hypospadias
Hypospadias is a birth defect where the urethral opening is in an abnormal location on the penis. It occurs in about 1 in 300 male births. The development of male external genitalia normally occurs between weeks 8-14 of gestation when the urethra and penis fully form. Risk factors include advanced maternal age, fertility treatments, and certain hormones. Hypospadias is classified based on the location of the urethral opening and is usually diagnosed at birth during a physical exam. Treatment involves surgery to correct the defect between ages 3-18 months.
Hereditary diseases-SGB -.pptx
This document discusses various hereditary disorders including developmental defects, cytogenic (karyotypic) abnormalities, single gene defects, and multifactorial inheritance disorders. It provides examples for each type of disorder such as Down syndrome for trisomy abnormalities, Marfan syndrome for single gene dominant disorders, and cleft lip for multifactorial disorders. The document also describes specific developmental defects like anencephaly and thalidomide malformations as well as cytogenic abnormalities including numerical and structural chromosomal issues.
Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
Chédiak-Higashi syndrome is a rare autosomal recessive disorder caused by mutations in the LYST gene. This results in abnormal granules in skin and immune cells, leading to partial albinism, infections, and neuropathy. Without treatment, an accelerated phase can develop with fever, bleeding, infections and organ failure. Diagnosis involves observing giant granules in leukocytes. There is no cure, but bone marrow transplants have been successful in some cases.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Symptoms include moderate to severe intellectual disabilities, distinctive facial features and connective tissue issues. It is diagnosed through genetic testing to detect the number of CGG repeats in the FMR1 gene. Management requires a multidisciplinary approach including medical care, therapies, behavioral and educational interventions.
IOSR Journal of Pharmacy (IOSRPHR)
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
All manuscripts are subject to rapid peer review. Those of high quality (not previously published and not under consideration for publication in another journal) will be published without delay.
Binder1
This research proposal aims to study hearing loss among children aged 5-16 years with sickle cell anemia at Ahmadu Bello University Teaching Hospital in Zaria, Nigeria. The researcher provides background on sickle cell disease and reviews literature showing the prevalence of sensorineural hearing loss among children with sickle cell anemia ranges from 3.8-29% in different parts of Nigeria and other countries. Justification is given for the study as routine hearing screening is not part of care for children with sickle cell anemia in Zaria, and the magnitude of hearing loss among this population is unknown. The proposal describes the methodology to be used including audiological tests and statistical analysis to determine prevalence and risk factors of hearing loss
psychomotor retardation
Psychomotor retardation can be caused by either static or progressive encephalopathy that results in slow progress or regression of developmental milestones. It is important to determine if the delay is restricted to specific areas or is global, and if there is solely delay or also regression. Developmental delays can be assessed using tests like the Denver Developmental Screening Test. Common causes of delay include hearing impairment, autism, motor dysfunction, static encephalopathy, genetic disorders, cerebral malformations, intrauterine infections like CMV, rubella, toxoplasmosis and genetic factors. Screening tests like MRI and chromosome analysis can help identify underlying causes.
Hearing disorder
Hearing is the important for the development of speech and verbal communication. Impairment of hearing may be congenital or acquired.
It may be temporary or permanent, organic or inorganic, central or peripheral in origin. Hearing defect can be mild, moderate, severe or profound. It is the most common handicapped conditions in children. It is found about 9 to 15 % among Indian school children.
SNHL compiled by BIJAY BHATTARAI
This document summarizes sensorineural hearing loss (SNHL) in children. It discusses the etiology, epidemiology, and causes of SNHL. For congenital SNHL, it describes genetic causes like autosomal dominant and recessive mutations, as well as non-genetic causes like viral infections and trauma during birth. Acquired SNHL is commonly caused by bacterial meningitis in young children. Ototoxic drugs are another significant cause of SNHL and the document lists several classes of drugs that can damage the inner ear. Imaging plays an important role in evaluating childhood SNHL to identify anomalies and guide treatment.
Approach to Cafe au lait spots in children
This document provides guidance on evaluating and monitoring children with neurocutaneous syndromes and café au lait spots. It discusses several neurocutaneous disorders including neurofibromatosis types 1 and 2, tuberous sclerosis, ataxia telangiectasia, and others. For children presenting with café au lait spots, the provider should consider neurofibromatosis type 1 and monitor for diagnostic criteria such as additional café au lait spots, skinfold freckling, neurofibromas, Lisch nodules, and skeletal or ocular abnormalities. Regular examinations are recommended to monitor for signs of NF1 and potential complications.
Down syndrome - pediatrics
Down syndrome is the most common chromosomal disorder, occurring in 1 in 800-1000 births. It is caused by trisomy 21 in 94% of cases. Clinical features include intellectual disability, flat facial features, upward slanted eyes, small nose, short hands and feet, and other physical signs. Associated medical issues are also common, such as congenital heart defects in 40% of individuals. Management involves early intervention services and treating associated medical problems. While life expectancy has increased, individuals with Down syndrome still face higher risks of certain health issues.
Hallermann streiff syndrome
Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. There are fewer than 200 people with the syndrome worldwide
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
5 la genetica clínica en pediatria
This document discusses challenges in diagnosing disorders related to dysmorphology and genetics in pediatric patients. It notes that an accurate diagnosis can be difficult due to genetic heterogeneity, environmental factors, incomplete family histories, and other issues. The document emphasizes the importance of a thorough clinical examination, family history, and integrating multiple sources of data to establish a diagnosis. It also discusses how early diagnosis can provide benefits by informing clinical management and prognosis.
Cleft lip, Cleft palate & Spina bifida
1. Cleft lip and cleft palate are birth defects caused by incomplete fusion of the facial processes between the 4th and 10th week of development.
2. Cleft lip is caused by a defect in lip formation and cleft palate occurs when the palate does not fully close.
3. Spina bifida is a neural tube defect caused by the incomplete closing of the embryonic neural tube, resulting in various vertebral arch and spinal cord abnormalities.
6-Birth-Defects.ppt
Birth defects are abnormalities present at birth that can cause disabilities or death. They range from minor to serious and affect about 150,000 babies born in the US each year. Common birth defects include spina bifida, caused by inadequate folic acid during early pregnancy and clubfoot. Spina bifida occurs when the bones of the spinal column do not fully close, leaving an opening. Early prenatal surgery may help repair some birth defects. Fetal alcohol syndrome, caused by drinking during pregnancy, can result in physical deformities and neurological issues. Cerebral palsy is caused by brain injury before or during birth and results in difficulties with movement and posture. Down syndrome, caused by an extra 21st chromosome, leads to intellectual
Deafness and hearing impairement
this topic is all about deafness and hearing impairment, this is all about the classification of deafness and hearing impairment and the cause language disorder.
Approach to Floppy Infant.ppt
This document discusses the approach to evaluating and diagnosing a floppy infant. A floppy infant refers to one with generalized low muscle tone or hypotonia. Common causes discussed include central nervous system issues like cerebral palsy, lower motor neuron disorders like spinal muscular atrophy, and myopathies. The document outlines examination findings that can help localize the source of the hypotonia. Initial tests may include bloodwork and imaging while EMG, genetic testing, and muscle biopsy can further evaluate certain causes. The most common causes found in one study of floppy infants were various forms of spinal muscular atrophy and congenital myopathies.
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Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
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Herpes zoster
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abt how we deal with it
what we need to do immediate action
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Kallmann syndrome
Hypogonadotrophic Hypogonadism
its congenital disease, failure of communication between the hypothalamus and the anterior pituitary gland.
symptom of an altered sense of smell either completely absent (anosmia) or highly reduced (hyposmia).
for diagnosis wait and see" approach applied
Porphyria the vampire disease
deficiency of porphyrin leads to porphyria
cause deposit of pigment in body
make person unable to go outside during sunlinght
cause skin burn other related complicated effect
and the person looks like vampire
no permanent cure for this just can cure symptoms which make patient life bit easier
Spores web (3)
This document discusses microbial spores, specifically endospores formed by some bacteria. It defines endospores as spores formed inside the parent vegetative cell, and notes they allow bacteria to exist in suspended animation. Endospores contain the minimum needed for life, protected by protective coats. Specific genera that form endospores are listed. The document then describes the sporulation process, properties of endospores like the core and coats, germination in three stages, and methods for visualizing spores via staining.
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Bioacoustic
Bioacoustics is a cross-disciplinary science combining biology and acoustics that investigates sound production, dispersion, and reception in animals. It involves studying the neurophysiological and anatomical basis of sound production and detection, and how acoustic sounds relate to the medium they disperse through. Bioacoustics also examines animal sounds to estimate biomass, especially for fisheries management using sonar technology. The field was established by biologist Ivan Regen in the 1920s through his studies of insect sounds. Modern bioacoustics research analyzes animal acoustic signals recorded with specialized equipment to understand sound production, detection, and use across different animal species.
Arm region
The arm is divided into anterior and posterior compartments by intermuscular septa. The anterior compartment contains the biceps, coracobrachialis, brachialis muscles and vessels like the brachial artery and basilic vein. The posterior compartment contains muscles like the triceps and vessels like the profunda brachii artery and radial nerve. Both compartments are surrounded by fascia and separated by intermuscular septa, with the neurovascular structures passing through their respective compartments.
Diabetes mellitus type 1
Type 1 diabetes, also known as juvenile diabetes, results from an autoimmune destruction of the insulin-producing beta cells in the pancreas. Without insulin, glucose cannot enter cells, leading to high blood sugar levels and derangement of carbohydrate, lipid and protein metabolism. If left untreated, type 1 diabetes can cause life-threatening ketoacidosis or long-term complications like organ and eye damage. Treatment requires lifelong external insulin through injections or pumps to control blood sugar levels.
Stemi acs
1) STEMI/acute coronary syndrome occurs when blood supply to the heart is disrupted, damaging heart muscle. It is caused by blockages in the coronary arteries from clot formations.
2) Symptoms include chest pain that may radiate to the back, neck, or arms along with shortness of breath, nausea and weakness.
3) Risk factors include age over 45, smoking, high blood pressure, high cholesterol, diabetes and obesity.
Cadmium toxicity abhi
Cadmium is a toxic heavy metal that occurs naturally and is used industrially. It accumulates in the environment and organisms. Exposure can cause acute flu-like symptoms and long-term effects like lung and kidney damage. Cadmium is classified as carcinogenic to humans. It interferes with enzyme function and displaces other metals. Diagnosis involves measuring cadmium levels in blood and urine. Treatment focuses on reducing further exposure and chelation therapy. Smoking is a major source of cadmium exposure that should be avoided.
Spleen anatomy
The spleen is a lymphatic organ located in the left upper abdomen under the diaphragm and ribs. It is oval shaped, 7-14cm long and weighs 150-200g. The spleen has several surfaces - a diaphragmatic surface facing upward, a visceral surface divided into gastric and renal regions, and borders. It filters blood and recycles iron, and contains red and white pulp. The spleen receives blood from the splenic artery and drains into the splenic vein. Diseases can cause an enlarged or absent spleen.
Acquired immunodeficiency syndrome
The document discusses Acquired Immunodeficiency Syndrome (AIDS), which is caused by the human immunodeficiency virus (HIV). It is transmitted through unprotected sex, contaminated blood transfusions, hypodermic needles, and during pregnancy or breastfeeding. There is currently no cure for AIDS, but treatment involves antiretroviral therapy to suppress HIV and prevent opportunistic infections. Scientists are working to develop more effective treatments such as protease inhibitors, fusion inhibitors, and integrase inhibitors.
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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
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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
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Hurler syndrome
- 2. Definition Also known as mucopolysaccharidosis type I (MPS I). An autosomal recessive inherited disease. Cause by deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes.
- 4. Prevalence Hurler syndrome has an overall frequency of 1 per 100,000 Newborn infants with this defect appear normal at birth. By the end of the first year, signs of impending's problem begin to develop.
- 5. Parent of children MPS I carry a defective IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4.
- 6. Symptoms Slow development in children occur. Coarse, thick facial features Prominent dark eyebrows Progressive stiffness in joints Mental retardation
- 7. Umbilical hernia Deafness Shortness in breath Abnormal bones of spine and claw hand Full lips with a thick , large tongue. Increased body hair
- 8. Diagnosis Diagnosis often can be made through clinical examination and urine tests. Enzyme assays Amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene. Genetic counseling
- 9. Treatment Enzyme replacement therapies are currently in use. Gene therapy also considering nowadays. Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) can be used as treatments for MPS. There is no cure for MPS I.
- 10. References