Di george syndrome (dgs)
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DiGeorge Syndrome is caused by a deletion on chromosome 22 which can lead to a variety of symptoms depending on severity such as weakness, failure to thrive, feeding difficulties, infections, and developmental delays. Diagnosis is based on laboratory tests detecting the chromosome 22 deletion and may be suspected due to facial features, heart defects, or low blood calcium. While there is no cure, treatments focus on managing specific issues through supplements, surgery, therapy, and early intervention to support development and quality of life. Prognosis varies but with proper care many can live long lives despite challenges from the disorder.
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DiGeorge Syndrome aparajeya shanker
DiGeorge Syndrome is a Primary Immunodeficiency Disease caused by the partial or complete deletion at the q arm of Chromosome 22 at locus 11. It is also called 22q11 deletion syndrome and presents with a wide range of serious clinical syndromes, affected the heart, pharynx, face and thymus gland.
Di george syndrome ppt
This document summarizes Digeorge syndrome, which is caused by a genetic mutation on the 22nd chromosome that results in the deletion of a portion of it. Key characteristics include poor development of body systems due to a shrunken or missing thymus gland, which can cause issues with the immune system and other organ development. It occurs in about 1 in 4,000 births and is a lifelong condition.
DiGeorge Syndrome
DiGeorge Syndrome is a primary immunodeficiency disease associated with susceptibility to infections. It is caused by abnormal cell development during fetal growth that can affect the immune system, facial features, glands, and organs like the heart. Symptoms vary depending on which organs are affected but often include infections, heart defects, and low calcium levels. Diagnosis is usually at birth based on multiple symptoms. Treatment is personalized and may include antibiotics, surgery, bone marrow transplant, or close monitoring depending on severity and organs involved.
Digeorge syndrome
22q deletion syndrome, also known as DiGeorge or CATCH 22 syndrome, is a genetic disorder caused by the absence of a small part of chromosome 22. It results in underdevelopment of several body systems including the thymus gland. Common features include cardiac defects, facial abnormalities, cleft palate, low calcium levels, immune deficiency, and learning disabilities. While there is no cure, treatment focuses on managing infections, cardiac issues, and hormone deficiencies through antibiotics, surgery, and supplements. Prognosis depends on severity, but many individuals can live fairly normal lifespans with proper care.
Digeorge syndrome
DiGeorge syndrome is caused by a missing part of chromosome 22 which can impact development of body systems like the heart, parathyroid and thymus. It is characterized by heart defects, hypocalcemia due to parathyroid issues, and thymic hypoplasia. It results in immunodeficiency due to T-cell deficiency. Other signs include distinctive facial features and learning problems. While there is no cure, treatment focuses on managing infections, calcium levels, and symptoms.
DiGeorge Syndrome (DGS).pdf
This pdf is about the DiGeorge Syndrome (DGS).
For more details visit on YouTube; @SELF-EXPLANATORY;
https://youtu.be/A5cp8m2IEqo
Thanks...!
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by physical abnormalities like a flat face and short neck, as well as cognitive delays. The most common form is trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Diagnosis is usually made prenatally through tests like amniocentesis or chorionic villus sampling. Treatment focuses on supporting development and managing any associated medical conditions through a team approach involving various therapists and doctors.
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.
Recommended
DiGeorge Syndrome aparajeya shanker
DiGeorge Syndrome is a Primary Immunodeficiency Disease caused by the partial or complete deletion at the q arm of Chromosome 22 at locus 11. It is also called 22q11 deletion syndrome and presents with a wide range of serious clinical syndromes, affected the heart, pharynx, face and thymus gland.
Di george syndrome ppt
This document summarizes Digeorge syndrome, which is caused by a genetic mutation on the 22nd chromosome that results in the deletion of a portion of it. Key characteristics include poor development of body systems due to a shrunken or missing thymus gland, which can cause issues with the immune system and other organ development. It occurs in about 1 in 4,000 births and is a lifelong condition.
DiGeorge Syndrome
DiGeorge Syndrome is a primary immunodeficiency disease associated with susceptibility to infections. It is caused by abnormal cell development during fetal growth that can affect the immune system, facial features, glands, and organs like the heart. Symptoms vary depending on which organs are affected but often include infections, heart defects, and low calcium levels. Diagnosis is usually at birth based on multiple symptoms. Treatment is personalized and may include antibiotics, surgery, bone marrow transplant, or close monitoring depending on severity and organs involved.
Digeorge syndrome
22q deletion syndrome, also known as DiGeorge or CATCH 22 syndrome, is a genetic disorder caused by the absence of a small part of chromosome 22. It results in underdevelopment of several body systems including the thymus gland. Common features include cardiac defects, facial abnormalities, cleft palate, low calcium levels, immune deficiency, and learning disabilities. While there is no cure, treatment focuses on managing infections, cardiac issues, and hormone deficiencies through antibiotics, surgery, and supplements. Prognosis depends on severity, but many individuals can live fairly normal lifespans with proper care.
Digeorge syndrome
DiGeorge syndrome is caused by a missing part of chromosome 22 which can impact development of body systems like the heart, parathyroid and thymus. It is characterized by heart defects, hypocalcemia due to parathyroid issues, and thymic hypoplasia. It results in immunodeficiency due to T-cell deficiency. Other signs include distinctive facial features and learning problems. While there is no cure, treatment focuses on managing infections, calcium levels, and symptoms.
DiGeorge Syndrome (DGS).pdf
This pdf is about the DiGeorge Syndrome (DGS).
For more details visit on YouTube; @SELF-EXPLANATORY;
https://youtu.be/A5cp8m2IEqo
Thanks...!
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by physical abnormalities like a flat face and short neck, as well as cognitive delays. The most common form is trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Diagnosis is usually made prenatally through tests like amniocentesis or chorionic villus sampling. Treatment focuses on supporting development and managing any associated medical conditions through a team approach involving various therapists and doctors.
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
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 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
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.
Gaucher disease
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
Edward syndrome
Edward syndrome, also known as Trisomy 18, is a chromosomal condition caused by the presence of an extra copy of chromosome 18. It is associated with abnormalities in many parts of the body and was first described by John H. Edwards in 1960. Affected individuals often have physical characteristics like low birth weight, small head size, malformed ears and heart defects. Treatment focuses on palliative care as the condition is often fatal, with the majority of children passing away within their first year. Those who survive longer experience severe developmental delays.
EDWARD SYNDROME
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
Di george syndrome
DiGeorge syndrome is caused by a deletion on chromosome 22 which disrupts normal development. It is characterized by hyperparathyroidism which causes high thyroid hormones, congenital heart defects which impair blood flow, and cleft lip and/or palate. Other symptoms include poor circulation seen as a bluish skin tone, failure to gain weight, weakness, and muscle issues. The genetic mutation is usually a deletion of part of chromosome 22, removing around 3 million nucleotides and genes. This deletion leads to changes in mRNA and proteins that alter cellular functions. DiGeorge syndrome has a 50% chance of being inherited and affecting each generation.
Gaucher disease past present future
This document summarizes advances in understanding and treating Gaucher disease from the past to present and future prospects. It describes key findings such as the identification of the metabolic defect, development of diagnostic tests, characterization of the Gaucher cell, and establishment of enzyme replacement therapy as an effective treatment that improves outcomes. The summary also notes areas of ongoing research including potential new treatments like chaperone therapy, gene therapy and small molecule approaches, as well as emerging links between Gaucher disease and Parkinson's disease.
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.
Gaucher disease
Gaucher disease is a multisystemic lipidosis characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestations. Treatment of type 1 includes enzyme replacement therapy to reverse symptoms. Types 2 and 3 also involve neurologic deterioration and have a poorer prognosis, though enzyme replacement may help with visceral symptoms in type 3.
Edward’S Syndrome1
Edward's Syndrome, also known as Trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It occurs in about 1 in 3,000 live births. Babies with Edward's Syndrome often have significant developmental delays and physical abnormalities. They frequently experience problems with their heart, brain, and other internal organs. Most infants with Edward's Syndrome do not survive past their first year due to issues with feeding and underlying health complications. While treatment aims to address any feeding difficulties or other medical needs, there is no cure for the condition.
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Down Syndrome
This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.
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
Hurler syndrome
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.
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
This document provides information on various chromosomal abnormalities and genetic diseases, including their incidence and key characteristics. It discusses autosomal and sex chromosome aneuploidies such as Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, and Klinefelter syndrome. It also summarizes autosomal deletions and duplications syndromes such as Wolf-Hirschhorn syndrome, Cri du Chat syndrome, and Williams syndrome. Finally, it outlines antenatal screening methods for fetal chromosomal abnormalities.
Gaucher Disease.pptx
This document discusses Gaucher disease, which is caused by a deficiency in the glucocerebrosidase enzyme. It classifies Gaucher disease into several types based on symptoms. Type 1 presents in adults and involves bone and organ involvement without neurological symptoms. Type 2 presents in infancy with rapid progression and death by age 2-4. Type 3 also presents in infancy but progresses more slowly into adulthood. The diagnosis involves testing for deficient glucocerebrosidase enzyme activity or identifying mutations in the GBA gene. Treatment involves managing symptoms, and enzyme replacement therapy or substrate reduction therapy to prevent further issues. A multidisciplinary approach is recommended.
Down Syndrome
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It causes delays in mental and physical development. Common physical signs include a flattened nose, upward slanting eyes, and separated skull bones. While there is no cure, treatments focus on managing medical conditions like heart defects. People with Down syndrome can live independently into middle age but have an increased risk of dementia. Advocacy groups like the National Down Syndrome Society provide support and raise funds for research.
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. It often results in miscarriage, stillbirth, or death in the first year of life. Babies born with Patau syndrome experience slow growth and development with low birth weight. They typically have several serious medical problems affecting the brain, heart, kidneys and other organs. While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. Most children with Patau syndrome do not survive past one year of age.
Turner Syndrome
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
Sindrome Di George
El Síndrome de DiGeorge se caracteriza por la hipoplasia tímica e hipoparatiroidismo, lo que causa deficiencias en el sistema inmunológico y niveles bajos de calcio. Está asociado con anomalías faciales y cardíacas y se produce por la deleción del cromosoma 22q11. Su diagnóstico requiere exámenes genéticos y de laboratorio. Requiere un tratamiento multidisciplinario incluyendo suplementos de calcio y terapias para fortalecer el sistema inmunoló
Presentacion Sindrome de Digeorge
El Síndrome de DiGeorge es causado por deleciones en el cromosoma 22q11.2 y se caracteriza por defectos cardíacos congénitos, hipoplasia de las glándulas paratiroides produciendo hipocalcemia e hipoplasia o aplasia tímica causando problemas inmunológicos. Puede presentarse de forma parcial o completa dependiendo de si hay hipoplasia o aplasia tímica. Su diagnóstico requiere análisis citogenético y detección de la deleción cromosómica subyacente
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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 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
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.
Gaucher disease
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
Edward syndrome
Edward syndrome, also known as Trisomy 18, is a chromosomal condition caused by the presence of an extra copy of chromosome 18. It is associated with abnormalities in many parts of the body and was first described by John H. Edwards in 1960. Affected individuals often have physical characteristics like low birth weight, small head size, malformed ears and heart defects. Treatment focuses on palliative care as the condition is often fatal, with the majority of children passing away within their first year. Those who survive longer experience severe developmental delays.
EDWARD SYNDROME
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
Di george syndrome
DiGeorge syndrome is caused by a deletion on chromosome 22 which disrupts normal development. It is characterized by hyperparathyroidism which causes high thyroid hormones, congenital heart defects which impair blood flow, and cleft lip and/or palate. Other symptoms include poor circulation seen as a bluish skin tone, failure to gain weight, weakness, and muscle issues. The genetic mutation is usually a deletion of part of chromosome 22, removing around 3 million nucleotides and genes. This deletion leads to changes in mRNA and proteins that alter cellular functions. DiGeorge syndrome has a 50% chance of being inherited and affecting each generation.
Gaucher disease past present future
This document summarizes advances in understanding and treating Gaucher disease from the past to present and future prospects. It describes key findings such as the identification of the metabolic defect, development of diagnostic tests, characterization of the Gaucher cell, and establishment of enzyme replacement therapy as an effective treatment that improves outcomes. The summary also notes areas of ongoing research including potential new treatments like chaperone therapy, gene therapy and small molecule approaches, as well as emerging links between Gaucher disease and Parkinson's disease.
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.
Gaucher disease
Gaucher disease is a multisystemic lipidosis characterized by hematologic abnormalities, organomegaly, and skeletal involvement. There are three clinical subtypes delineated by the absence or presence and progression of neurologic manifestations. Treatment of type 1 includes enzyme replacement therapy to reverse symptoms. Types 2 and 3 also involve neurologic deterioration and have a poorer prognosis, though enzyme replacement may help with visceral symptoms in type 3.
Edward’S Syndrome1
Edward's Syndrome, also known as Trisomy 18, is a rare genetic disorder caused by the presence of an extra chromosome 18. It occurs in about 1 in 3,000 live births. Babies with Edward's Syndrome often have significant developmental delays and physical abnormalities. They frequently experience problems with their heart, brain, and other internal organs. Most infants with Edward's Syndrome do not survive past their first year due to issues with feeding and underlying health complications. While treatment aims to address any feeding difficulties or other medical needs, there is no cure for the condition.
Galactosemia
Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.
Down Syndrome
This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.
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
Hurler syndrome
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.
Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
This document provides information on various chromosomal abnormalities and genetic diseases, including their incidence and key characteristics. It discusses autosomal and sex chromosome aneuploidies such as Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, and Klinefelter syndrome. It also summarizes autosomal deletions and duplications syndromes such as Wolf-Hirschhorn syndrome, Cri du Chat syndrome, and Williams syndrome. Finally, it outlines antenatal screening methods for fetal chromosomal abnormalities.
Gaucher Disease.pptx
This document discusses Gaucher disease, which is caused by a deficiency in the glucocerebrosidase enzyme. It classifies Gaucher disease into several types based on symptoms. Type 1 presents in adults and involves bone and organ involvement without neurological symptoms. Type 2 presents in infancy with rapid progression and death by age 2-4. Type 3 also presents in infancy but progresses more slowly into adulthood. The diagnosis involves testing for deficient glucocerebrosidase enzyme activity or identifying mutations in the GBA gene. Treatment involves managing symptoms, and enzyme replacement therapy or substrate reduction therapy to prevent further issues. A multidisciplinary approach is recommended.
Down Syndrome
Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It causes delays in mental and physical development. Common physical signs include a flattened nose, upward slanting eyes, and separated skull bones. While there is no cure, treatments focus on managing medical conditions like heart defects. People with Down syndrome can live independently into middle age but have an increased risk of dementia. Advocacy groups like the National Down Syndrome Society provide support and raise funds for research.
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. It often results in miscarriage, stillbirth, or death in the first year of life. Babies born with Patau syndrome experience slow growth and development with low birth weight. They typically have several serious medical problems affecting the brain, heart, kidneys and other organs. While there is no cure, treatment aims to address symptoms through surgery, feeding tubes, and therapies. Most children with Patau syndrome do not survive past one year of age.
Turner Syndrome
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
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Glimpses of syndromes of Chromosomal Abnormalities & Genetic Diseases
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Sindrome Di George
El Síndrome de DiGeorge se caracteriza por la hipoplasia tímica e hipoparatiroidismo, lo que causa deficiencias en el sistema inmunológico y niveles bajos de calcio. Está asociado con anomalías faciales y cardíacas y se produce por la deleción del cromosoma 22q11. Su diagnóstico requiere exámenes genéticos y de laboratorio. Requiere un tratamiento multidisciplinario incluyendo suplementos de calcio y terapias para fortalecer el sistema inmunoló
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El Síndrome de DiGeorge es causado por deleciones en el cromosoma 22q11.2 y se caracteriza por defectos cardíacos congénitos, hipoplasia de las glándulas paratiroides produciendo hipocalcemia e hipoplasia o aplasia tímica causando problemas inmunológicos. Puede presentarse de forma parcial o completa dependiendo de si hay hipoplasia o aplasia tímica. Su diagnóstico requiere análisis citogenético y detección de la deleción cromosómica subyacente
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Este documento describe el síndrome de DiGeorge, incluyendo sus características principales como anomalías cardíacas, faciales y déficits inmunológicos. Explica que se debe a una deleción del cromosoma 22 y cómo se diagnostica mediante ecocardiografía, análisis de sangre y pruebas genéticas. Además, destaca la importancia de un diagnóstico temprano para mejorar la calidad de vida de los niños afectados a través de terapias y tratamientos médicos.
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Similar to Di george syndrome (dgs)
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Progeria is a rare genetic disorder that causes children to age rapidly, experiencing problems usually seen in the elderly like heart disease, stiffness of joints, and loss of hair and body fat. It affects around 50 children worldwide. Children with Progeria appear to have the appearance of an elderly person and most die of heart attacks or strokes at an average age of 13 years old. There is no cure for Progeria but treatments can help manage symptoms and delay the effects of aging.
Down’s syndrome health problems and strategies for care
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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.
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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by cognitive delays, slower physical development, and distinctive facial features. Individuals with Down syndrome often have health issues such as heart defects, hearing or vision problems, thyroid issues, and an increased risk of Alzheimer's disease. Their development follows a specific pattern, with relative strengths in social skills but delays in motor skills, language, and short-term verbal memory. Early intervention and education can help maximize their learning potential over their lifetime.
DEVOLOPMENTAL DISABILTIES IN OLDER PEOPLE NEW.pptx
Developmental disabilities can persist into older age and present unique challenges. Common conditions that contribute to disability in older populations include arthritis, cognitive impairment, cardiovascular and respiratory diseases, and falls. Effective management involves a combination of medications, physical therapy, lifestyle changes, and social support tailored to individual needs and conditions such as Alzheimer's disease, autism, Down syndrome, or cerebral palsy. Regular medical care and communication between individuals and healthcare providers are important to address evolving health issues.
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Inborn errors of metabolism (IEMs) are genetic diseases caused by defects in metabolic enzymes or transport proteins. This results in toxic accumulations that often affect the central nervous system. IEMs have a wide range of signs and symptoms that can affect any organ system. Treatment involves avoiding triggers through dietary restrictions and supplements, as well as medications to facilitate metabolic pathways. Phenylketonuria (PKU) and glucose-6-phosphate dehydrogenase (G6PD) deficiency are two examples of IEMs described in detail in the document.
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This document provides information on evaluating and investigating children with global developmental delay (GDD) or intellectual disability (ID). It defines GDD and ID and outlines the similar investigations pursued for both, including medical history, physical exam, genetic testing like chromosomal microarray and metabolic testing of blood and urine. The diagnostic yield of investigations is highest when focused on identifying potentially treatable inborn errors of metabolism or single-gene disorders. The document recommends chromosome microarray as the first-line genetic test and discusses other genetic tests, metabolic tests, imaging and neurological evaluation that can help identify underlying etiologies.
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This document discusses the risk factors and types of diabetes. It notes that many cases of diabetes go unknown and the risk increases with age. Certain ethnic groups like Hispanics, African Americans, and Native Americans have a higher risk. Being overweight also increases risk. There are two main types of diabetes: type 1 occurs in 5-10% of cases usually in children/teens and may be genetic; type 2 is more common and occurs when the body does not properly use insulin, usually developing slowly over time and affecting both thin and overweight people. Common symptoms of diabetes include excessive thirst, urination, fatigue, and vision changes.
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Developmental delay occurs in 5-10% of children and is defined as a child not reaching developmental milestones at the expected age. Developmental assessment involves screening, surveillance, and diagnostic evaluation to identify delays. Physical exam may provide clues to underlying causes, which include genetic syndromes, infections, toxins, and trauma. Investigations help diagnose specific conditions, and management consists of specialized therapies and treatments tailored to each child's needs.
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Prader-Willi syndrome (PWS) is a genetic disorder caused by loss of expression of paternally inherited genes in chromosome 15q11-q13. It is characterized by hypotonia in infancy, hyperphagia in early childhood leading to obesity, hypogonadism, mild-to-moderate intellectual disability, and behavioral problems. Diagnosis is based on clinical criteria including characteristic facial features, feeding difficulties in infancy, hypogonadism, developmental delay, and rapid weight gain in early childhood. Treatment requires a multidisciplinary team and focuses on controlling appetite and weight through environmental modifications, behavioral interventions, and growth hormone therapy which has shown benefits.
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This document discusses the risk factors for diabetes. It notes that many cases of diabetes go undiagnosed and the risk increases with age. Certain ethnic groups like Hispanics, African Americans, Native Americans and Asians are at higher risk. Being overweight is also a risk factor. Type 1 diabetes makes up 5-10% of cases and usually develops in children or teens. Type 2 diabetes is more common and results from the body not properly using insulin. Genetics can also play a role in diabetes risk as children with a family history have a higher chance of developing type 1 diabetes.
Pituitary gland disorders
The pituitary gland sits at the base of the brain and controls many other glands. Acromegaly is caused by excess growth hormone after growth plate closure, usually due to a pituitary adenoma. Complications include joint and bone problems, high blood pressure, diabetes, and increased cancer risk. Treatment involves surgery, medication, or radiation. Dwarfism is defined as adult height under 4'10" and has many causes and health issues. The pituitary also regulates water balance, and disorders like SIADH cause inappropriate antidiuretic hormone secretion leading to hyponatremia.
Aging disoder and orthopedics disorders
Progeria is an extremely rare genetic condition where children age rapidly, experiencing many signs of aging at a very early age. It affects about 1 in 4-8 million births. The main symptoms include baldness, wrinkled skin, joint stiffness, loss of body fat and muscle, and cardiovascular problems. Average life expectancy is 13 years. While there is no cure, treatments can help manage symptoms and slow progression, such as low-dose aspirin, physical therapy, and lifestyle modifications. Progeria is caused by a genetic mutation and provides insight into normal human aging processes.
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This document defines and discusses several cognitive disorders: vision impairment, hearing impairment, and Down syndrome. It outlines the causes, signs/symptoms, diagnosis, treatment, nursing diagnoses, and interventions for each disorder. Vision impairment can be genetic, caused by infection or disease, trauma, or aging. Diagnosis involves visual acuity and field tests. Treatment includes glasses, contacts, eye drops or surgery. Hearing impairment is congenital or acquired from infection, disease, or injury. Diagnosis for infants uses brainstem response or emissions tests while older children have audiometry. Treatment includes hearing aids, cochlear implants, or surgery. Down syndrome is caused by a third copy of chromosome 21 and involves physical and developmental delays. Diagn
Unit 16; Cognitive or Sensory dysfunctions and Rehabilitation, Educational Pl...
This document defines and discusses several cognitive disorders: vision impairment, hearing impairment, and Down syndrome. It outlines the causes, signs/symptoms, diagnosis, treatment, nursing diagnoses, and interventions for each disorder. Vision impairment can be genetic, caused by infection or disease, birth complications, trauma, or aging. Hearing impairment can be congenital or acquired through infection, ear issues, or head injury. Down syndrome is caused by an extra 21st chromosome and presents with characteristic physical features and some degree of intellectual disability.
Physical and Sexual Development of Individuals with Down Syndrome
This document discusses the physical, intellectual, and sexual development of individuals with Down syndrome. It notes that while physical and cognitive development may be delayed compared to peers, individuals with Down syndrome go through normal developmental stages and have typical intellectual capabilities, ranging from mild to moderate impairment. The document also addresses that individuals with Down syndrome have normal sexuality and intimacy needs, though guidance is important due to vulnerabilities. Parents and caregivers play a key role in providing appropriate information, protection, and guidance regarding relationships and health for individuals with Down syndrome.
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Learn about Down syndrome, a genetic disorder caused by an extra chromosome. Discover its symptoms, causes and available treatments.
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Genetic disorders occur due to mutations or changes in genes or DNA that can be inherited from parents or occur spontaneously. There are three main types of genetic disorders: chromosomal disorders which affect chromosomes, complex/multifactorial disorders caused by a combination of genetic and environmental factors, and single-gene disorders caused by a single gene mutation. Symptoms vary depending on the disorder and can include behavioral issues, developmental delays, physical abnormalities and medical problems. Diagnosis involves family history, genetic testing of parents or fetus, and newborn screening. While many genetic disorders cannot be cured, treatment focuses on managing symptoms and complications.
RETT SYNDROME
Rett syndrome is caused by a mutation in the methyl CpG binding protein 2 ( MECP2 ) gene. The MECP2 gene is involved in the production of a protein called methyl-cystine binding protein 2 ( MeCP2) which is needed for brain development and acts as a biochemical switch that can either increase gene expression or tell other genes when to turn off and stop producing their own unique proteins. The MECP2 gene does not function normally in Rett syndrome so that structural abnormal forms or inadequate amounts of the protein are produced and can cause other genes to have abnormal gene expression.
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Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
Diagnosis and Staging
The diagnosis of HR+ breast cancer begins with clinical evaluation, imaging, and biopsy. Imaging modalities such as mammography, ultrasound, and MRI help in assessing the extent of the disease. Histopathological examination and immunohistochemical staining of the biopsy sample confirm the diagnosis and hormone receptor status by identifying the presence of estrogen receptors (ER) and progesterone receptors (PR) on the tumor cells.
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Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
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Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
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Gastrointestinal Infections
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These are generally consequences (signs and symptoms) resulting from gastrointestinal infections: diarrhea, vomiting, fever and malaise, among others.
The treatment consists of replacing lost liquids and electrolytes (drinking drinking water and other recommended liquids, including consumption of juicy fruits such as papayas, apples, pears, among others that contain water in their composition).
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Di george syndrome (dgs)
- 1. DiGeorge Syndrome (DGS) By: Sarah Coleman
- 2. Symptoms Depending on the severity… • Weakness or tiring easily • Failure to thrive • Failure to gain weight • Poor muscle tone • Shortness of breath • Frequent infections • Difficulty feeding • Delayed speech development • Learning delays or difficulties • A gap in the roof of the mouth (cleft palate) and other issues • Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip • Bluish skin due to poor circulation of oxygen-rich blood • Twitching or spasms around the mouth, hands, arms or throat • Delayed development, such as delays in rolling over, sitting up or other infant milestones
- 3. Diagnosis Based on a laboratory test that can detect the deletion in chromosome 22. Your doctor will likely order such a test if a combination of medical problems or conditions suggests DiGeorge syndrome. Symptoms are similar to some heart defects commonly associated with DiGeorge syndrome, therefore a heart defect can prompt your doctor to order chromosome tests.
- 4. Diagnosis • Facial features that are characteristic of DGS. • Infants can have low blood calcium levels as a result of hypoparathyroidism. This may show up as low blood calcium on a routine blood test, or the infant may be “jittery” or have seizures as a result of the low calcium.
- 5. DiGeorge is caused by. . . The deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent. This chromosome contains an estimated 500 to 800 genes.
- 6. Treatments • There is no cure for DiGeorge syndrome. There are treatments and therapy for a person, some issues that can be fixed include: • Hypoparathyroidism- is managed with calcium supplements, vitamin D, and a low phosphorus diet. • Cleft palate-This or other abnormalities of the palate can be surgically repaired. • Heart defects- Most require surgery to repair the heart and correct blood circulation. • Overall development- speech therapy to improve verbal skills and articulation, occupational therapy to learn everyday skills and developmental therapy to learn appropriate behaviors, social skills and interpersonal skills. In the United States, early intervention programs providing these types of therapy are usually available through a state's health department.
- 7. Prognosis (lifestyle) • This varies, many infants die from seizures, infections, or heart failure in the first year. • One month morality rate is 55%, 6 month is 86% • As far as life expectancy, they can live out a long, fairly average life depending on the severity and the proper type of care they receive. “Jacob, who suffers from the genetic disorder DiGeorge Syndrome, has overcome many obstacles, and he continues to play for Pitman Little League.”
- 8. Bibliography • Doctor Mary. "DiGeorge Syndrome – Symptoms, Diagnosis, Treatment, Prognosis, Life Expectancy, Pictures." DiGeorge Syndrome. N.p., n.d. Web. 13 Mar. 2014. • "DiGeorge Syndrome." Immune Deficiency Foundation. N.p., n.d. Web. 13 Mar. 2014. • "DiGeorge Syndrome." Diagnosis at Mayo Clinic. N.p., 9 Aug. 2011. Web. 13 Mar. 2014. • "DiGeorge Syndrome." Symptoms. N.p., 9 Aug. 2011. Web. 13 Mar. 2014.