Presentation1 mfs
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What is Marfan Syndrome(MFS)?? What cause Marfan Syndrome (MFS)? Physical characteristic of MFS in people. Diagnosis of Marfan Syndrome. Treatment of Marfan Syndrome. Famous people with Marfan Syndrome.
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Marfan syndrome andrew
This document provides information about Marfan syndrome, a genetic disorder of the connective tissue. It affects multiple body systems including the eyes, cardiovascular system, and nervous system. In the eyes, it can cause lens dislocation and retinal detachment. In the cardiovascular system, it weakens the aorta wall and increases the risk of aortic aneurysm or dissection. In the nervous system, it causes the dura surrounding the spinal cord to stretch and put pressure on the vertebrae. There is no cure for Marfan syndrome, but regular checkups and early detection/treatment of issues can help manage risks. Lifestyle adjustments and sometimes surgery may be needed depending on the specific problems present.
Marfan syndrome ppt.
Marfan syndrome is a disorder of the connective tissue that affects the skeleton, eyes, cardiovascular system, and other areas. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1 that is important for connective tissue strength and flexibility. Marfan syndrome is inherited in an autosomal dominant pattern, so if one parent has it there is a 50% chance their child will have it as well. While there is no cure, treatment focuses on managing symptoms and complications through monitoring by specialists and may include surgeries or medicines.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue, causing abnormal growth and development. It is inherited in an autosomal dominant pattern due to a mutation in the FBN1 gene on chromosome 15. If one parent has Marfan syndrome, a child has a 50% chance of inheriting the condition. While there is no cure, treatment options can help manage symptoms and prevent complications.
Marfan syndrome
Marfan syndrome is a genetic disorder that affects the body's connective tissues. It is caused by mutations in the FBN1 gene on chromosome 15 and is usually inherited in an autosomal dominant manner. Symptoms include tall stature, long limbs, long fingers and toes, as well as potential vision and heart problems. While there is no cure, treatments focus on managing symptoms and may include eyeglasses, braces, surgery, and medications to control blood pressure and heart issues. Researchers are working to develop new treatments and a potential cure.
Marfan Syndrome and the School Nurse
From the National Marfan Foundation, this presentations gives an overview of Marfan syndrome and provides the school nurse with resources to identify students in need of an evaluation, make appropriate referrals, manage the healthcare and educational needs of the student, and to educate faculty and staff about the disorder. A free copy of the presentation is available to school nurses on our website at www.marfan.org.
Marfan Syndrome
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
Marfan syndrome - a detailed study ( all medical information )
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
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Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
Recommended
Marfan syndrome andrew
This document provides information about Marfan syndrome, a genetic disorder of the connective tissue. It affects multiple body systems including the eyes, cardiovascular system, and nervous system. In the eyes, it can cause lens dislocation and retinal detachment. In the cardiovascular system, it weakens the aorta wall and increases the risk of aortic aneurysm or dissection. In the nervous system, it causes the dura surrounding the spinal cord to stretch and put pressure on the vertebrae. There is no cure for Marfan syndrome, but regular checkups and early detection/treatment of issues can help manage risks. Lifestyle adjustments and sometimes surgery may be needed depending on the specific problems present.
Marfan syndrome ppt.
Marfan syndrome is a disorder of the connective tissue that affects the skeleton, eyes, cardiovascular system, and other areas. It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1 that is important for connective tissue strength and flexibility. Marfan syndrome is inherited in an autosomal dominant pattern, so if one parent has it there is a 50% chance their child will have it as well. While there is no cure, treatment focuses on managing symptoms and complications through monitoring by specialists and may include surgeries or medicines.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue, causing abnormal growth and development. It is inherited in an autosomal dominant pattern due to a mutation in the FBN1 gene on chromosome 15. If one parent has Marfan syndrome, a child has a 50% chance of inheriting the condition. While there is no cure, treatment options can help manage symptoms and prevent complications.
Marfan syndrome
Marfan syndrome is a genetic disorder that affects the body's connective tissues. It is caused by mutations in the FBN1 gene on chromosome 15 and is usually inherited in an autosomal dominant manner. Symptoms include tall stature, long limbs, long fingers and toes, as well as potential vision and heart problems. While there is no cure, treatments focus on managing symptoms and may include eyeglasses, braces, surgery, and medications to control blood pressure and heart issues. Researchers are working to develop new treatments and a potential cure.
Marfan Syndrome and the School Nurse
From the National Marfan Foundation, this presentations gives an overview of Marfan syndrome and provides the school nurse with resources to identify students in need of an evaluation, make appropriate referrals, manage the healthcare and educational needs of the student, and to educate faculty and staff about the disorder. A free copy of the presentation is available to school nurses on our website at www.marfan.org.
Marfan Syndrome
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
Marfan syndrome - a detailed study ( all medical information )
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's affected, surgery may be necessary.
please comment
thank you
Marfan syndrome
Marfan syndrome is an autosomal dominant genetic disorder of connective tissue that affects many parts of the body including the heart, blood vessels, bones, lungs and eyes. It is caused by mutations in the FBN1 gene which results in abnormal production of fibrillin-1, an important component of connective tissue. Common features include tall stature, long limbs, curved spine and eye problems. Treatment focuses on managing cardiovascular complications through beta blockers and surgery as well as correcting skeletal abnormalities. Current research aims to better understand the genetic basis of Marfan syndrome and related disorders to improve diagnosis and treatment.
4.marfansyndrome
- Marfan syndrome is a genetic disorder of the connective tissue that affects the heart, blood vessels, eyes, lungs, bones and skin. It is caused by mutations in the FBN1 gene which encodes fibrillin-1, an important protein in connective tissue.
- Common characteristics include tall stature, long limbs, curved spine, dislocated lenses of the eyes and a weakened aorta which can dilate and dissect. Treatment focuses on monitoring for cardiovascular complications and using beta blockers to protect the heart. Surgery may be needed to repair the aorta or valves. Regular eye exams are also important to check for retinal detachment.
Case Study: Marfan Syndrome
Marfan syndrome is a genetic disorder of the connective tissue that affects the skeletal, ocular, and cardiovascular systems. It is caused by mutations in the FBN1 gene affecting fibrillin-1, which is important for connective tissue formation. Characteristics include tall stature, long limbs, joint flexibility, eye problems like lens dislocation, and aortic root dilation and risk of aneurysm. Diagnosis involves assessment of these signs against criteria like the Ghent nosology. While there is no cure, management focuses on reducing cardiovascular risk through beta blockers and surgery if needed. A rare neonatal form has very severe effects.
12. cobey marfan syndrome
Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.
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.
Marfan syndrome
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.
Marfan syndrome
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
Marfan syndrome
Mitch is an 11-year-old boy who presents with several signs of Marfan syndrome including being taller than his peers, long limbs, curved spine, and recent unexplained stretch marks. Tests would need to be done to confirm the diagnosis of Marfan syndrome, which is a genetic disorder affecting the body's connective tissue. These tests would include an echocardiogram of the heart, eye examination, CT scan, and MRI to check for common effects like aortic enlargement and lens dislocation. Marfan syndrome stems from mutations in the FBN1 gene and precise diagnosis and management of the condition's effects on tissues and organs like the heart and lungs are important for treatment.
Connective tissue disorders
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.
Marfan syndrome
Marfan syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. It affects the skeletal, ocular, and cardiovascular systems. Key features include disproportionately long limbs, joint laxity, eye lens dislocation, and aortic root aneurysm/dissection which are the leading causes of mortality. Diagnosis is based on clinical criteria involving multiple organ systems. Ongoing monitoring of the aorta is critical as progressive dilatation can lead to dissection.
Presentation1.pptx, imaging of genetic diseases. (3)
This document summarizes different types of genetic diseases including their classification, inheritance patterns, and examples. It discusses disorders caused by mutations in single genes including autosomal dominant, autosomal recessive, and X-linked conditions. Specific genetic diseases are explained such as neurofibromatosis, cystic fibrosis, and lysosomal storage disorders. The document also covers disorders associated with defects in enzymes, structural proteins, receptors, and genes that regulate cell growth.
Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and cal...
Brief overview of Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and callus,Morton's neuroma,Toe joint disorders,Tarsal tunnel syndrome (TTS),Hypertophic Ungual Labium
Systemic disease involving cardiovascular system
1. Systemic diseases like autoimmune disorders can involve the cardiovascular system and cause manifestations such as pericarditis, coronary artery disease, cardiomyopathy, and congestive heart failure.
2. Diseases such as rheumatoid arthritis, systemic lupus erythematosus, and inflammatory myopathies commonly affect the heart.
3. Many systemic diseases are associated with accelerated atherosclerosis and premature cardiovascular disease due to chronic inflammation.
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.
6.2 Human Genetic Disorders 2019
Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Monogenic disorders
This document discusses several studies on monogenic disorders and their potential medical applications. It first introduces monogenic disorders as involving mutations in a single gene, which can be inherited or spontaneous. Two studies are then summarized: one finding that brain stimulation may help restore breathing capacity in Duchenne muscular dystrophy patients by activating the diaphragm muscle, and another observing changes in mucus protein structure in cystic fibrosis patients that could provide insight into treatment. The document concludes that these studies bring researchers closer to potential treatments for currently incurable genetic diseases and improve patients' quality of life.
Ehlers danlos syndrome(eds)
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.
Turners Syndrome
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
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.
Dilated cardiomyopathy
Dilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently.
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.
marfansyndrome-200916023408.pdf
Marfan syndrome is a genetic disorder that affects connective tissue, most commonly impacting the heart, eyes, blood vessels, and skeleton. It causes people to be tall and thin with long limbs. Left untreated, it can cause life-threatening complications such as aortic aneurysm or dissection. Treatment focuses on medications to lower blood pressure and reduce strain on blood vessels. Depending on symptoms, surgery may be needed to repair the aorta or address eye, spine, or breastbone abnormalities. Regular monitoring through tests like echocardiograms is important to catch any developing issues early.
Gpacn4j6NGh6kX6X996.pptx
Marfan syndrome is a genetic disorder that affects connective tissue, most commonly impacting the heart, eyes, blood vessels, and skeleton. It is caused by a defect in the gene that produces a protein important for connective tissue strength and elasticity. Treatment focuses on preventing complications through medications to lower blood pressure and reduce strain on blood vessels. Depending on symptoms, surgery may be needed to repair the aorta or address eye, spine, or breastbone abnormalities. While there is no cure, modern treatments allow those with Marfan syndrome to live full lifespans with regular monitoring of their condition.
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What's hot
4.marfansyndrome
- Marfan syndrome is a genetic disorder of the connective tissue that affects the heart, blood vessels, eyes, lungs, bones and skin. It is caused by mutations in the FBN1 gene which encodes fibrillin-1, an important protein in connective tissue.
- Common characteristics include tall stature, long limbs, curved spine, dislocated lenses of the eyes and a weakened aorta which can dilate and dissect. Treatment focuses on monitoring for cardiovascular complications and using beta blockers to protect the heart. Surgery may be needed to repair the aorta or valves. Regular eye exams are also important to check for retinal detachment.
Case Study: Marfan Syndrome
Marfan syndrome is a genetic disorder of the connective tissue that affects the skeletal, ocular, and cardiovascular systems. It is caused by mutations in the FBN1 gene affecting fibrillin-1, which is important for connective tissue formation. Characteristics include tall stature, long limbs, joint flexibility, eye problems like lens dislocation, and aortic root dilation and risk of aneurysm. Diagnosis involves assessment of these signs against criteria like the Ghent nosology. While there is no cure, management focuses on reducing cardiovascular risk through beta blockers and surgery if needed. A rare neonatal form has very severe effects.
12. cobey marfan syndrome
Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.
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.
Marfan syndrome
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.
Marfan syndrome
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
Marfan syndrome
Mitch is an 11-year-old boy who presents with several signs of Marfan syndrome including being taller than his peers, long limbs, curved spine, and recent unexplained stretch marks. Tests would need to be done to confirm the diagnosis of Marfan syndrome, which is a genetic disorder affecting the body's connective tissue. These tests would include an echocardiogram of the heart, eye examination, CT scan, and MRI to check for common effects like aortic enlargement and lens dislocation. Marfan syndrome stems from mutations in the FBN1 gene and precise diagnosis and management of the condition's effects on tissues and organs like the heart and lungs are important for treatment.
Connective tissue disorders
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.
Marfan syndrome
Marfan syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. It affects the skeletal, ocular, and cardiovascular systems. Key features include disproportionately long limbs, joint laxity, eye lens dislocation, and aortic root aneurysm/dissection which are the leading causes of mortality. Diagnosis is based on clinical criteria involving multiple organ systems. Ongoing monitoring of the aorta is critical as progressive dilatation can lead to dissection.
Presentation1.pptx, imaging of genetic diseases. (3)
This document summarizes different types of genetic diseases including their classification, inheritance patterns, and examples. It discusses disorders caused by mutations in single genes including autosomal dominant, autosomal recessive, and X-linked conditions. Specific genetic diseases are explained such as neurofibromatosis, cystic fibrosis, and lysosomal storage disorders. The document also covers disorders associated with defects in enzymes, structural proteins, receptors, and genes that regulate cell growth.
Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and cal...
Brief overview of Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and callus,Morton's neuroma,Toe joint disorders,Tarsal tunnel syndrome (TTS),Hypertophic Ungual Labium
Systemic disease involving cardiovascular system
1. Systemic diseases like autoimmune disorders can involve the cardiovascular system and cause manifestations such as pericarditis, coronary artery disease, cardiomyopathy, and congestive heart failure.
2. Diseases such as rheumatoid arthritis, systemic lupus erythematosus, and inflammatory myopathies commonly affect the heart.
3. Many systemic diseases are associated with accelerated atherosclerosis and premature cardiovascular disease due to chronic inflammation.
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.
6.2 Human Genetic Disorders 2019
Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Monogenic disorders
This document discusses several studies on monogenic disorders and their potential medical applications. It first introduces monogenic disorders as involving mutations in a single gene, which can be inherited or spontaneous. Two studies are then summarized: one finding that brain stimulation may help restore breathing capacity in Duchenne muscular dystrophy patients by activating the diaphragm muscle, and another observing changes in mucus protein structure in cystic fibrosis patients that could provide insight into treatment. The document concludes that these studies bring researchers closer to potential treatments for currently incurable genetic diseases and improve patients' quality of life.
Ehlers danlos syndrome(eds)
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.
Turners Syndrome
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
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.
Dilated cardiomyopathy
Dilated cardiomyopathy or DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently.
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.
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Presentation1.pptx, imaging of genetic diseases. (3)
Presentation1.pptx, imaging of genetic diseases. (3)
Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and cal...
Disorders of feet-Bunion,Marfan Syndrome,Ehlers–Danlos syndrome,Corn and cal...
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marfansyndrome-200916023408.pdf
Marfan syndrome is a genetic disorder that affects connective tissue, most commonly impacting the heart, eyes, blood vessels, and skeleton. It causes people to be tall and thin with long limbs. Left untreated, it can cause life-threatening complications such as aortic aneurysm or dissection. Treatment focuses on medications to lower blood pressure and reduce strain on blood vessels. Depending on symptoms, surgery may be needed to repair the aorta or address eye, spine, or breastbone abnormalities. Regular monitoring through tests like echocardiograms is important to catch any developing issues early.
Gpacn4j6NGh6kX6X996.pptx
Marfan syndrome is a genetic disorder that affects connective tissue, most commonly impacting the heart, eyes, blood vessels, and skeleton. It is caused by a defect in the gene that produces a protein important for connective tissue strength and elasticity. Treatment focuses on preventing complications through medications to lower blood pressure and reduce strain on blood vessels. Depending on symptoms, surgery may be needed to repair the aorta or address eye, spine, or breastbone abnormalities. While there is no cure, modern treatments allow those with Marfan syndrome to live full lifespans with regular monitoring of their condition.
VIJAY DHAMGAY
Marfan syndrome is a genetic disorder of the connective tissue that affects many parts of the body. It is caused by a mutation in the FBN1 gene that affects the body's production of fibrillin. Common symptoms include being tall and thin with long limbs, flexible joints, scoliosis, and eye problems. Serious complications can arise in the heart and aorta due to weakening and dilation, as well as mitral valve prolapse. Diagnosis involves examining family history, conducting physical exams, and potentially genetic testing. Treatment focuses on managing heart, eye, lung and nervous system complications through medications, surgery, and management of symptoms.
Marfan’s syndrome
Delaney Olsen describes what it's like to live with Marfan syndrome in a typical day. Marfan syndrome is a genetic disorder that affects the body's connective tissues and can impact the heart, eyes, bones and other organs. Key symptoms Delaney experiences include being tall and thin with long limbs, flexible joints, crowded teeth and a heart murmur. The condition is caused by a mutation in the FBN1 gene and can be inherited from a parent. While the aorta is at risk of rupturing and causing death, Delaney explains that with monitoring of the heart and treatment, people with Marfan syndrome can expect a normal lifespan.
Marfan syndrome for orthodontist by almuzian
Marfan syndrome is a genetic disorder of connective tissue that affects the heart, eyes, bones and other tissues. It is caused by mutations in the FBN1 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the Ghent criteria, which looks for major and minor clinical features in different organ systems. Common signs and symptoms include elongated limbs, scoliosis, eye problems like retinal detachment, heart issues like mitral valve prolapse and aortic aneurysm, and skeletal issues like joint hypermobility and pain. While there is no cure, treatment focuses on managing heart and eye complications through medication and surgery.
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Marfan syndrome (MFS) is an inherited connective tissue disease characterized by pathological changes in the heart and blood vessels, musculoskeletal system, and eyes.
Alpha 1 antitrypsin deficiency: Jimcale M Xamari
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The document discusses the extracellular matrix and Marfan syndrome. It describes fibrillin-1 as a protein that forms microfibrils and is encoded by the FBN1 gene. Marfan syndrome is caused by mutations in the FBN1 gene, resulting in abnormalities in connective tissue. Common features of Marfan syndrome include being tall and thin with disproportionately long limbs, as well as issues with the heart, eyes, lungs and bones.
marfansyndrome-220129064039.pptx
- Marfan syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene that encodes fibrillin-1 protein.
- It is a multi-system disorder that mainly affects the skeletal, ocular, and cardiovascular systems. Key features include tall stature, long limbs, eye problems like ectopia lentis, and aortic root enlargement which can lead to aortic dissection.
- Treatment involves beta-blockers and surgery to repair an enlarged aorta when needed. Patients require lifelong monitoring of the aorta through echocardiograms or other imaging to screen for aortic complications.
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This document discusses spinal muscular atrophy (SMA), including its causes, types, signs and symptoms, diagnosis, and treatment. SMA is caused by a mutation in the SMN1 gene that results in a lack of survival motor neuron protein and the degeneration of alpha motor neurons in the spinal cord. It is classified into five types based on age of onset and severity. There is currently no cure for SMA, but treatment focuses on managing symptoms through rehabilitation, assistive devices, ventilation support, and gene therapy research shows promise for slowing disease progression.
Mitral valve prolapse
Mitral valve prolapse (MVP) is a common condition where the mitral valve leaflets bulge into the left atrium during systole. While often asymptomatic, it can increase the risk of arrhythmias, endocarditis, stroke, and mitral regurgitation. The classic findings are a mid-to-late systolic click and murmur. Treatment involves monitoring for complications and addressing symptoms like with beta-blockers. For severe mitral regurgitation, early surgical repair is recommended to prevent left ventricular dysfunction.
ECM DPT.2.pptx
Fibrillin-1 is a protein encoded by the FBN1 gene that serves as a structural component of microfibrils in the extracellular matrix. Mutations in the FBN1 gene cause Marfan syndrome, a genetic disorder of the connective tissue that affects multiple systems of the body. Common features of Marfan syndrome include tall stature, long limbs, scoliosis, heart issues, extreme nearsightedness, and dural ectasia. The condition is caused by an inability to properly produce proteins necessary for building connective tissue due to an FBN1 gene mutation.
Mongolism
This document defines Mongolism (also known as Down Syndrome) and discusses its causes, manifestations, and management. Mongolism is a genetic condition caused by the presence of an extra chromosome 21. It is characterized by physical traits like a flattened face and developmental delays. Complications can include heart defects, infections, sleep apnea, and early dementia. Management involves early intervention, continuous checkups, and surgery if needed to address complications. Nursing care is based on any complications and aims to promote independence, prevent infections or injuries, and support development.
SPINAL MUSCULAR ATROPY
This document discusses spinal muscular atrophy (SMA). It defines SMA as a genetic motor neuron disease caused by degeneration of motor neurons in the spinal cord and select brainstem nuclei. SMA is classified into types based on age of onset and severity, from Type 1 being the most severe to Type 4 being the mildest. Type 1 SMA presents in infants and leads to death usually by age 2. Type 2 presents between ages 6-18 months and patients can sit but not stand or walk. Type 3 presents after 18 months and patients can walk but have difficulty with motor skills. Nutritional support and respiratory aids are important for treatment.
A Case of MASS phenotype
The patient presented with alcohol intoxication and hypoglycemia. Examination revealed features suggestive of Marfan syndrome such as bicuspid aortic valve, dilated aorta, and skeletal features. However, he did not fully meet diagnostic criteria for Marfan syndrome. Differential diagnoses considered included Loeys-Dietz syndrome and MASS phenotype based on involvement of cardiovascular and skeletal systems. Treatment focused on management of valvular issues and aortic aneurysm with monitoring.
BREAST CANCER SOAP FORMAT CASE STUDY.
This document provides information about breast cancer including its risk factors, symptoms, pathophysiology, treatment options, and management. It discusses the case of a 37-year-old female diagnosed with Stage II breast cancer. Her treatment plan involves a radical mastectomy, axillary lymph node dissection, four months of doxorubicin and cyclophosphamide chemotherapy, and five years of tamoxifen therapy. The document also outlines monitoring during and after treatment, managing long-term side effects, and counseling points for the patient.
Metformin
The document discusses various aspects of metformin, including:
- Metformin's mechanisms of action involve both direct and indirect activation of AMPK, leading to effects like decreased glucose, lipid, and protein synthesis.
- Studies have shown metformin may be associated with better cardiac outcomes compared to other glucose-lowering drugs and should not be withheld in patients with stable heart disease or heart failure.
- Infants exposed to metformin in utero had increased subscapular skinfolds but similar body fat compared to unexposed infants, potentially signaling healthier fat distribution.
- Metformin may lower B12 levels but does not necessarily cause deficiency if metabolic markers remain normal, as cellular B12 uptake may increase with metformin therapy
Fabry disease
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1. Down syndrome is caused by trisomy 21 and is characterized by intellectual disability and distinctive physical features. It is the most common genetic chromosomal disorder.
2. Turner syndrome is caused by a missing or partial X chromosome and affects growth and sexual development in females, causing short stature and infertility.
3. Klinefelter syndrome is the most common sex chromosome disorder in males, caused by at least one extra X chromosome, and is associated with infertility and less developed secondary sex characteristics.
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Academy of Oriental Medicine at Austin
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Presentation1 mfs
- 1. MARFAN SYNDROME PREPARED BY: SULTAN MUJIB (DABIRY)
- 2. OBJECTIVES: • What is Marfan Syndrome(MFS)?? • What cause Marfan Syndrome (MFS)? • Physical characteristic of MFS in people. • Diagnosis of Marfan Syndrome. • Treatment of Marfan Syndrome. • Famous people with Marfan Syndrome.
- 3. WHAT IS MARFAN SYNDROME? Marfan syndrome is a genetic disorder that affects the body’s connective tissue. -Connective tissue are those tissues which holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. People with Marfan's tend to be tall, and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and curvature of spine. The most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones, and the covering of the spinal cord.
- 4. WHAT CAUSE MARFAN SYNDROME? • Marfan is an autosomal dominant disorder. About 75% of the time the condition is inherited from a parent while 25% of the time it is a new mutation. • The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called Transforming Growth Factor Beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.
- 5. PHYSICAL TRAITS IN PEOPLE WITH MARFAN SYNDROME: People with Marfan syndrome may have: • A tall, thin body build. • Long arms, legs, fingers, and toes and flexible joints. • Scoliosis, kyphosis or curvature of the spine. • A chest that sinks in or sticks out. • Crowded teeth. • Flat feet.
- 6. HOW IS MARFAN SYNDROME DIAGNOSED? It can be diagnose by these tests: • Echocardiogram. This test looks at your heart, its valves, and the aorta. • Electrocardiogram. This test checks your heart rate and heart rhythm. • An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. • Other tests, such as a (CT) scan or (MRI) of the lower back. These tests can help your doctor see if you have a back problem that is very common in people with Marfan syndrome called dural ectasia.
- 7. WHAT IS THE TREATMENT? • There is no cure for Marfan syndrome. Many people have a normal life with Marfan Syndrome. • If it create some problems for patient then they should meet their doctors. • Medications are typically not used to treat Marfan syndrome. However, your doctor may prescribe a beta-blocker, which preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the person with Marfan syndrome is young. • Some people are unable to take beta-blockers because they have asthma or because of the medication's side effects, in these cases, another medication called a calcium channel blocker may be recommended. • The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat problems affecting the heart's valves, which control the flow of blood in and out of the heart and between the heart's chambers.
- 8. THE FAMOUS PEOPLE WHICH WITH MARFAN SYNDROME: • Bin Laden: The mastermind behind Al Qaeda. • Abraham Lincoln: The former US president. • Niccolò Paganini: The Italian composer and violinist. • Michael Phelps: The 22 time swimming medalist.
- 9. THANKS FROM YOUR ATTENTION Any Question?