rare diseases
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This document discusses several diseases including their causes and symptoms. It mentions that HIV is a virus spread through body fluids that can destroy immune cells over time. Ebola is a severe, often fatal illness transmitted between humans and animals. Influenza attacks the respiratory system and vaccination provides the best defense. Hepatitis causes liver inflammation and jaundice. Psoriasis is an autoimmune disease that affects many in the US. Some genetic diseases result from mutations in DNA that can be caused by environmental factors or occur during cell division. Cancer often stems from a series of p53 gene mutations allowing unchecked cell growth. The document stresses the importance of health and encourages taking care of one's health and family.
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top 10 rarest diseases
Progeria is a rare genetic condition where aging begins in childhood, causing abnormal physical development. Symptoms include premature wrinkling and loss of hair and life expectancy is usually 13 years. Progeria is not inherited in most cases and has no cure.
Inherited Diseases
This document discusses several inherited diseases including sickle cell disease, hemophilia, muscular dystrophy, cystic fibrosis, and Huntington's disease. Sickle cell disease is caused by a mutation that causes red blood cells to take on an abnormal sickle shape, leading to anemia and organ damage. Hemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII or IX that is inherited in an X-linked recessive pattern. Muscular dystrophy encompasses genetic diseases that cause progressive muscle weakness and loss of muscle mass through defective muscle proteins. Cystic fibrosis is caused by a gene mutation that causes thick, sticky mucus to build up in the lungs and digestive system. Huntington's disease is an inherited
Top 10 rare diseases – BioXcel Corporation
This document lists and briefly describes 10 rare diseases. It notes that while common fatal diseases receive significant media attention, there are thousands of rare diseases that are not widely discussed. The top 10 rare diseases described include Jumping Frenchmen of Maine, characterized by involuntary movements in response to sounds; Hypertrichosis, which causes extreme hair growth; and Argyria, originally caused by exposure to silver. Other rare diseases mentioned are Alien Hand Syndrome, Parry-Romberg Syndrome, Pseudomyxoma Peritonei, Adult Onset Still's Disease, Wolman Disease, Necrotizing Fasciitis, and Mowat-Wilson Syndrome.
Genetic deseases. Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is associated with mild to moderate intellectual disabilities and developmental delays. Common physical characteristics include a flattened face, upward slanting eyes, and short fingers. Individuals with Down syndrome also often have heart defects, gastrointestinal issues, hearing loss, and early-onset Alzheimer's disease. Screening and diagnostic tests during pregnancy can indicate risk or confirm a diagnosis, but the condition is usually diagnosed after birth through chromosome analysis.
Lesson 7 Single Gene Disorders (F) Kcr
Huntington's disease and cystic fibrosis are single gene disorders. Huntington's causes problems with muscle control and memory. Symptoms appear in middle age and worsen over time. Cystic fibrosis causes thick mucus to build up in the lungs and pancreas, leading to breathing issues and digestion problems. Both disorders are inherited in an autosomal recessive pattern, so carriers do not show symptoms but can pass the allele to their children.
Hereditary Diseases
Hereditary diseases can be passed down from parent to child through genes or chromosomes. Cystic fibrosis is caused by a defective gene that causes thick, sticky mucus to build up in the lungs and digestive system. There is no cure, but treatments help manage symptoms. Down syndrome occurs when there is extra genetic material from chromosome 21, causing lifelong intellectual disabilities and delays. It varies in severity and can be caused by trisomy 21, mosaicism, or translocation. Therapies help promote development, independence, and skills for those with Down syndrome.
Di george syndrome (dgs)
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.
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.
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top 10 rarest diseases
Progeria is a rare genetic condition where aging begins in childhood, causing abnormal physical development. Symptoms include premature wrinkling and loss of hair and life expectancy is usually 13 years. Progeria is not inherited in most cases and has no cure.
Inherited Diseases
This document discusses several inherited diseases including sickle cell disease, hemophilia, muscular dystrophy, cystic fibrosis, and Huntington's disease. Sickle cell disease is caused by a mutation that causes red blood cells to take on an abnormal sickle shape, leading to anemia and organ damage. Hemophilia is a bleeding disorder caused by deficiencies in clotting factors VIII or IX that is inherited in an X-linked recessive pattern. Muscular dystrophy encompasses genetic diseases that cause progressive muscle weakness and loss of muscle mass through defective muscle proteins. Cystic fibrosis is caused by a gene mutation that causes thick, sticky mucus to build up in the lungs and digestive system. Huntington's disease is an inherited
Top 10 rare diseases – BioXcel Corporation
This document lists and briefly describes 10 rare diseases. It notes that while common fatal diseases receive significant media attention, there are thousands of rare diseases that are not widely discussed. The top 10 rare diseases described include Jumping Frenchmen of Maine, characterized by involuntary movements in response to sounds; Hypertrichosis, which causes extreme hair growth; and Argyria, originally caused by exposure to silver. Other rare diseases mentioned are Alien Hand Syndrome, Parry-Romberg Syndrome, Pseudomyxoma Peritonei, Adult Onset Still's Disease, Wolman Disease, Necrotizing Fasciitis, and Mowat-Wilson Syndrome.
Genetic deseases. Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is associated with mild to moderate intellectual disabilities and developmental delays. Common physical characteristics include a flattened face, upward slanting eyes, and short fingers. Individuals with Down syndrome also often have heart defects, gastrointestinal issues, hearing loss, and early-onset Alzheimer's disease. Screening and diagnostic tests during pregnancy can indicate risk or confirm a diagnosis, but the condition is usually diagnosed after birth through chromosome analysis.
Lesson 7 Single Gene Disorders (F) Kcr
Huntington's disease and cystic fibrosis are single gene disorders. Huntington's causes problems with muscle control and memory. Symptoms appear in middle age and worsen over time. Cystic fibrosis causes thick mucus to build up in the lungs and pancreas, leading to breathing issues and digestion problems. Both disorders are inherited in an autosomal recessive pattern, so carriers do not show symptoms but can pass the allele to their children.
Hereditary Diseases
Hereditary diseases can be passed down from parent to child through genes or chromosomes. Cystic fibrosis is caused by a defective gene that causes thick, sticky mucus to build up in the lungs and digestive system. There is no cure, but treatments help manage symptoms. Down syndrome occurs when there is extra genetic material from chromosome 21, causing lifelong intellectual disabilities and delays. It varies in severity and can be caused by trisomy 21, mosaicism, or translocation. Therapies help promote development, independence, and skills for those with Down syndrome.
Di george syndrome (dgs)
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.
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.
Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
Ebola pwpnt(2)
Ebola Hemorrhagic Fever is a deadly disease caused by the Ebola virus, which is transmitted through contact with infected body fluids and is fatal in around 90% of cases. The virus primarily affects humans and nonhuman primates in certain African countries such as the Democratic Republic of Congo. There are five identified subtypes of the Ebola virus that can cause disease in humans. The disease progresses rapidly and symptoms range from fever and muscle aches to severe internal and external bleeding. Currently there is no vaccine or cure for Ebola, though supportive care and isolation of infected individuals are used to treat the disease.
Down Syndrome: Born with Extra
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It is associated with cognitive impairment and physical birth defects. There are three main types of Down syndrome: Trisomy 21, Mosaic, and Translocation. Prenatal testing can detect Down syndrome but about 90% of women receiving a positive result choose abortion. While there is no cure, early intervention and lifelong care help people with Down syndrome achieve their full potential and live fulfilling lives.
Wong. down syndrome
This document provides an overview of Down syndrome (DS), including:
- DS is caused by an extra copy of chromosome 21, resulting in developmental delays.
- It discusses the genetics behind DS, including the role of the DSCR1 gene and its impact on the calcineurin pathway.
- Clinical features of DS are described, such as physical and mental abnormalities, as well as an increased risk of health issues like heart defects.
- The relationship between DS and cancer is explored, how the same genetic pathways are involved in both.
- Current approaches to prevention, management, and treatment of DS are summarized.
Down syndrome Class Presentation
Down Syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of a third copy of chromosome 21. It is the most common chromosome abnormality in humans, occurring in about 1 in 699 births in the US. Down Syndrome can be broken into three main types - trisomy 21 which accounts for 95% of cases, translocation Down Syndrome which is 3-4% of cases, and mosaic Down Syndrome which is less than 1% of cases. Physical features include stunted growth, slanted eyes, low-set ears, flattened nose, smaller teeth and shortened hands. Individuals with Down Syndrome often have intellectual disabilities ranging from mild to moderate and may experience delays in speech, motor skills,
Down syndrome update 2014
Down Syndrome Update provides an overview of Down syndrome including its history, genetics, features, and recent research. It summarizes that Down syndrome is caused by trisomy 21 and describes the essential information that should be conveyed when delivering a diagnosis, such as the genetic basis, physical features, medical complications, intellectual disability, long-term prognosis, and support resources. Recent studies discussed include identifying the most important information for parents, social conditions of people with Down syndrome in Denmark, and the establishment of the US National Down Syndrome Registry called DS-Connect.
Genetic presentation
The document provides information on several genetic disorders including colon cancer, hypothyroidism, Turner syndrome, Down syndrome, pachyonychia congenita, Smith-Magenis syndrome, sickle cell disease, severe combined immunodeficiency, phenylketonuria, neurofibromatosis type 1, maple syrup urine disease, Huntington's disease, adenosine deaminase deficiency, alpha-1 antitrypsin deficiency, Williams syndrome, albinism, cystic fibrosis, Tay-Sachs disease, and Kartagener syndrome. For each disorder, it summarizes the definition, symptoms, causes or genetic changes, inheritance pattern if applicable, prevalence, diagnosis, and available treatments.
Down syndrome
Down syndrome is a genetic disorder caused by a full or partial extra copy of chromosome 21. This additional genetic material alters development and causes characteristic physical traits like low muscle tone, small stature, and a single deep crease in the palm. Early intervention through therapies can help children with Down syndrome achieve basic skills and lay a foundation for future progress, as delays are common in areas like physical, cognitive, language, and social development. Education requires careful consideration and supports, though with interventions people with Down syndrome can learn at their own pace and have varied goals and roles.
AIDS THE KILLER DISEASE
The document discusses HIV/AIDS, caused by the human immunodeficiency virus (HIV). HIV is a retrovirus that infects and destroys cells of the immune system, specifically T-cells, weakening the immune system and allowing opportunistic infections. Symptoms of HIV/AIDS include weight loss, diarrhea, mental disorders, vision problems, and tiredness. HIV can be transmitted sexually, through blood or needles, or from mother to child. Diagnosis involves blood tests that detect HIV antibodies, such as ELISA and Western Blot tests. Prevention includes safe sex practices, not sharing needles, avoiding tattoos with infected needles, and comprehensive sex education.
gaucher disease Presentation1
Type 2 Gaucher disease is a rare genetic disorder caused by a defective gene that inhibits the body's ability to break down a fatty lipid called glucocerebroside. This causes the fatty material to accumulate in organs like the spleen, liver, lungs and bone marrow. Type 2 Gaucher disease specifically affects the central nervous system, with initial signs including neck hyperextension, swallowing issues and eye movement disorders. Affected children usually experience rapid neurological degeneration and die by age 2. The article reviews 15 new cases of Type 2 Gaucher disease and compares them to 104 published cases to better understand the signs, symptoms and progression of this rare condition.
Gene abnormalities
Abnormalities and genetic disorders can be caused by hereditary factors including autosomal inheritance, X-linked inheritance, and defective chromosomes. They can also be produced by harmful genes or an uneven number of chromosomes. Gene mutations can be inherited from parents or acquired, and hereditary mutations exist in virtually all body cells and can be passed down between generations. Some examples of genetic disorders discussed include sickle cell anemia, hemophilia, Huntington's disease, phenylketonuria (PKU), Tay-Sachs disease, and diabetes.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Down Syndrome (Medscape.com)
This document provides an overview of Down syndrome, including:
- Down syndrome is caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. It affects multiple body systems.
- Signs and symptoms include distinctive facial features, cognitive impairment, congenital heart defects, gastrointestinal issues, etc.
- Diagnosis is usually made at birth based on physical exam findings and confirmed with genetic testing. Screening and management involves monitoring for associated medical issues.
- While no cure exists, improved healthcare has greatly increased life expectancy and quality of life for those with Down syndrome.
Complex Diseases
This document discusses factors that affect gene expression and cause human diseases. It states that most chronic non-communicable diseases are caused by an interaction of both genetic and environmental factors. Diseases caused by multiple genes and environmental factors together are called multifactorial disorders. Common diseases like diabetes, asthma and heart disease are complex and multifactorial rather than Mendelian. Both genes and environment contribute to diseases like schizophrenia.
epidemiology.ppt22
Epidemiology is the study of the distribution and determinants of health-related states or events, such as disease. It involves two main types: descriptive epidemiology which studies disease distribution, and analytic epidemiology which aims to explain disease occurrence and elucidate causal mechanisms. Epidemiology is a quantitative, applied science that focuses on groups using systematic and orderly observational methods.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is associated with physical growth delays, distinctive facial features, and mild to moderate intellectual disabilities. The average IQ of a young adult with Down syndrome is equivalent to an 8- or 9-year-old, but IQ levels vary widely. Common health issues for those with Down syndrome include congenital heart disease, thyroid problems, vision and hearing disorders, and susceptibility to leukemia. While individuals with Down syndrome have some intellectual disabilities, they should be treated with dignity and respect.
Zee baby 2
This document provides an introduction and background to a study on sickle cell anemia (SCA) in Jos North, Nigeria. It discusses SCA as a genetic blood disorder with high morbidity and mortality. The incidence, prevalence, diagnosis and treatment of SCA in Jos North is examined. Improving outcomes for children with SCA through early diagnosis, prophylactic therapy and bone marrow transplants is discussed. The research problem is identified as a lack of knowledge among residents about SCA implications and the need for screening before marriage. The study aims to educate residents on SCA and identify carriers to reduce disease transmission risk. The scope covers selected primary health centers in Jos North.
Down syndrome
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
The Truth about Ebola
At Premier One Emergency Centers, we are dedicated to educating our communities about health-related issues. With the first U.S. diagnosis of Ebola occurring in neighboring Dallas, Texas, we would like to share with you some important information about this virus.
We are confident that the chances of contracting Ebola remain remote, yet our communities should stay vigilant and educated about the potential for infection due to any illness
Down Syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and learning. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
Update: National Plans for Rare Diseases
The document discusses European policies and national plans for rare diseases. It provides details on:
- The 1999 European regulation on orphan medicinal products and 2008 EU communication on rare diseases that set out a community strategy.
- The 2009 EU recommendation that member states develop national rare disease plans or strategies by 2013 addressing areas like care, research, and social services.
- Updates from EUROPLAN 2015 on the status of national rare disease plans in 24 European countries.
- Core indicators proposed by the EU to monitor national rare disease plans across areas like governance, care centers, research, and funding.
18 June 2015 Rare Disease Site & Patient Recruitment KJA
This document discusses challenges and approaches for site and patient recruitment in rare disease clinical studies. Key challenges include the rarity of diseases, difficulty finding patients and physicians, complex logistics, and vulnerable patient populations. Effective approaches involve casting a wide net globally, leveraging registries and advocacy groups, using medical informatics to identify sites, and hiring specialists to assist with outreach and education. Lessons learned emphasize starting recruitment efforts early, challenging site estimates, and ensuring multiple potential enrollment sites are identified for each patient.
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Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
Ebola pwpnt(2)
Ebola Hemorrhagic Fever is a deadly disease caused by the Ebola virus, which is transmitted through contact with infected body fluids and is fatal in around 90% of cases. The virus primarily affects humans and nonhuman primates in certain African countries such as the Democratic Republic of Congo. There are five identified subtypes of the Ebola virus that can cause disease in humans. The disease progresses rapidly and symptoms range from fever and muscle aches to severe internal and external bleeding. Currently there is no vaccine or cure for Ebola, though supportive care and isolation of infected individuals are used to treat the disease.
Down Syndrome: Born with Extra
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It is associated with cognitive impairment and physical birth defects. There are three main types of Down syndrome: Trisomy 21, Mosaic, and Translocation. Prenatal testing can detect Down syndrome but about 90% of women receiving a positive result choose abortion. While there is no cure, early intervention and lifelong care help people with Down syndrome achieve their full potential and live fulfilling lives.
Wong. down syndrome
This document provides an overview of Down syndrome (DS), including:
- DS is caused by an extra copy of chromosome 21, resulting in developmental delays.
- It discusses the genetics behind DS, including the role of the DSCR1 gene and its impact on the calcineurin pathway.
- Clinical features of DS are described, such as physical and mental abnormalities, as well as an increased risk of health issues like heart defects.
- The relationship between DS and cancer is explored, how the same genetic pathways are involved in both.
- Current approaches to prevention, management, and treatment of DS are summarized.
Down syndrome Class Presentation
Down Syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of a third copy of chromosome 21. It is the most common chromosome abnormality in humans, occurring in about 1 in 699 births in the US. Down Syndrome can be broken into three main types - trisomy 21 which accounts for 95% of cases, translocation Down Syndrome which is 3-4% of cases, and mosaic Down Syndrome which is less than 1% of cases. Physical features include stunted growth, slanted eyes, low-set ears, flattened nose, smaller teeth and shortened hands. Individuals with Down Syndrome often have intellectual disabilities ranging from mild to moderate and may experience delays in speech, motor skills,
Down syndrome update 2014
Down Syndrome Update provides an overview of Down syndrome including its history, genetics, features, and recent research. It summarizes that Down syndrome is caused by trisomy 21 and describes the essential information that should be conveyed when delivering a diagnosis, such as the genetic basis, physical features, medical complications, intellectual disability, long-term prognosis, and support resources. Recent studies discussed include identifying the most important information for parents, social conditions of people with Down syndrome in Denmark, and the establishment of the US National Down Syndrome Registry called DS-Connect.
Genetic presentation
The document provides information on several genetic disorders including colon cancer, hypothyroidism, Turner syndrome, Down syndrome, pachyonychia congenita, Smith-Magenis syndrome, sickle cell disease, severe combined immunodeficiency, phenylketonuria, neurofibromatosis type 1, maple syrup urine disease, Huntington's disease, adenosine deaminase deficiency, alpha-1 antitrypsin deficiency, Williams syndrome, albinism, cystic fibrosis, Tay-Sachs disease, and Kartagener syndrome. For each disorder, it summarizes the definition, symptoms, causes or genetic changes, inheritance pattern if applicable, prevalence, diagnosis, and available treatments.
Down syndrome
Down syndrome is a genetic disorder caused by a full or partial extra copy of chromosome 21. This additional genetic material alters development and causes characteristic physical traits like low muscle tone, small stature, and a single deep crease in the palm. Early intervention through therapies can help children with Down syndrome achieve basic skills and lay a foundation for future progress, as delays are common in areas like physical, cognitive, language, and social development. Education requires careful consideration and supports, though with interventions people with Down syndrome can learn at their own pace and have varied goals and roles.
AIDS THE KILLER DISEASE
The document discusses HIV/AIDS, caused by the human immunodeficiency virus (HIV). HIV is a retrovirus that infects and destroys cells of the immune system, specifically T-cells, weakening the immune system and allowing opportunistic infections. Symptoms of HIV/AIDS include weight loss, diarrhea, mental disorders, vision problems, and tiredness. HIV can be transmitted sexually, through blood or needles, or from mother to child. Diagnosis involves blood tests that detect HIV antibodies, such as ELISA and Western Blot tests. Prevention includes safe sex practices, not sharing needles, avoiding tattoos with infected needles, and comprehensive sex education.
gaucher disease Presentation1
Type 2 Gaucher disease is a rare genetic disorder caused by a defective gene that inhibits the body's ability to break down a fatty lipid called glucocerebroside. This causes the fatty material to accumulate in organs like the spleen, liver, lungs and bone marrow. Type 2 Gaucher disease specifically affects the central nervous system, with initial signs including neck hyperextension, swallowing issues and eye movement disorders. Affected children usually experience rapid neurological degeneration and die by age 2. The article reviews 15 new cases of Type 2 Gaucher disease and compares them to 104 published cases to better understand the signs, symptoms and progression of this rare condition.
Gene abnormalities
Abnormalities and genetic disorders can be caused by hereditary factors including autosomal inheritance, X-linked inheritance, and defective chromosomes. They can also be produced by harmful genes or an uneven number of chromosomes. Gene mutations can be inherited from parents or acquired, and hereditary mutations exist in virtually all body cells and can be passed down between generations. Some examples of genetic disorders discussed include sickle cell anemia, hemophilia, Huntington's disease, phenylketonuria (PKU), Tay-Sachs disease, and diabetes.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Down Syndrome (Medscape.com)
This document provides an overview of Down syndrome, including:
- Down syndrome is caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. It affects multiple body systems.
- Signs and symptoms include distinctive facial features, cognitive impairment, congenital heart defects, gastrointestinal issues, etc.
- Diagnosis is usually made at birth based on physical exam findings and confirmed with genetic testing. Screening and management involves monitoring for associated medical issues.
- While no cure exists, improved healthcare has greatly increased life expectancy and quality of life for those with Down syndrome.
Complex Diseases
This document discusses factors that affect gene expression and cause human diseases. It states that most chronic non-communicable diseases are caused by an interaction of both genetic and environmental factors. Diseases caused by multiple genes and environmental factors together are called multifactorial disorders. Common diseases like diabetes, asthma and heart disease are complex and multifactorial rather than Mendelian. Both genes and environment contribute to diseases like schizophrenia.
epidemiology.ppt22
Epidemiology is the study of the distribution and determinants of health-related states or events, such as disease. It involves two main types: descriptive epidemiology which studies disease distribution, and analytic epidemiology which aims to explain disease occurrence and elucidate causal mechanisms. Epidemiology is a quantitative, applied science that focuses on groups using systematic and orderly observational methods.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is associated with physical growth delays, distinctive facial features, and mild to moderate intellectual disabilities. The average IQ of a young adult with Down syndrome is equivalent to an 8- or 9-year-old, but IQ levels vary widely. Common health issues for those with Down syndrome include congenital heart disease, thyroid problems, vision and hearing disorders, and susceptibility to leukemia. While individuals with Down syndrome have some intellectual disabilities, they should be treated with dignity and respect.
Zee baby 2
This document provides an introduction and background to a study on sickle cell anemia (SCA) in Jos North, Nigeria. It discusses SCA as a genetic blood disorder with high morbidity and mortality. The incidence, prevalence, diagnosis and treatment of SCA in Jos North is examined. Improving outcomes for children with SCA through early diagnosis, prophylactic therapy and bone marrow transplants is discussed. The research problem is identified as a lack of knowledge among residents about SCA implications and the need for screening before marriage. The study aims to educate residents on SCA and identify carriers to reduce disease transmission risk. The scope covers selected primary health centers in Jos North.
Down syndrome
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
The Truth about Ebola
At Premier One Emergency Centers, we are dedicated to educating our communities about health-related issues. With the first U.S. diagnosis of Ebola occurring in neighboring Dallas, Texas, we would like to share with you some important information about this virus.
We are confident that the chances of contracting Ebola remain remote, yet our communities should stay vigilant and educated about the potential for infection due to any illness
Down Syndrome
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and learning. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
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Update: National Plans for Rare Diseases
The document discusses European policies and national plans for rare diseases. It provides details on:
- The 1999 European regulation on orphan medicinal products and 2008 EU communication on rare diseases that set out a community strategy.
- The 2009 EU recommendation that member states develop national rare disease plans or strategies by 2013 addressing areas like care, research, and social services.
- Updates from EUROPLAN 2015 on the status of national rare disease plans in 24 European countries.
- Core indicators proposed by the EU to monitor national rare disease plans across areas like governance, care centers, research, and funding.
18 June 2015 Rare Disease Site & Patient Recruitment KJA
This document discusses challenges and approaches for site and patient recruitment in rare disease clinical studies. Key challenges include the rarity of diseases, difficulty finding patients and physicians, complex logistics, and vulnerable patient populations. Effective approaches involve casting a wide net globally, leveraging registries and advocacy groups, using medical informatics to identify sites, and hiring specialists to assist with outreach and education. Lessons learned emphasize starting recruitment efforts early, challenging site estimates, and ensuring multiple potential enrollment sites are identified for each patient.
RareConnect.org webinar How to use Twitter to build your online rare disease ...
RareConnect.org webinar How to use Twitter to build your online rare disease ...EURORDIS - Rare Diseases Europe
This document provides guidance on starting and maintaining an effective Twitter account for a rare disease. It recommends choosing a memorable username and hashtag, filling out your profile, following related accounts and hashtags, engaging in conversations rather than just sharing links, and using tools like HootSuite to schedule posts and monitor discussions. The key is to start listening, learn from others in your rare disease community, and sustain activity over time through strategic planning and involvement of a team.Antiphospholipid syndrome
Antiphospholipid syndrome (APS), also known as Hughes syndrome, is an autoimmune disorder characterized by abnormal blood clotting caused by antiphospholipid antibodies. It increases the risk of blood clots forming in veins and arteries, which can lead to complications like heart attacks, strokes, miscarriages, and preeclampsia. APS is diagnosed through blood tests detecting antiphospholipid antibodies and a history of blood clots, pregnancy morbidity, or other related health issues. Treatment involves blood thinners and aspirin to prevent clotting. With proper management, most APS patients can lead normal lives.
Antiphospholipid syndrome
Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by arterial or venous blood clots and/or pregnancy morbidity. It results from antibodies that target phospholipids or proteins that bind phospholipids. APS can occur alone (primary) or with other autoimmune diseases like lupus (secondary). The antibodies are associated with an increased risk of blood clots, heart attacks, strokes, preeclampsia, and fetal loss. Diagnosis requires both clinical criteria of vascular events or pregnancy complications and laboratory detection of antiphospholipid antibodies. Treatment focuses on blood thinners to prevent new clots.
recent drugs in haematinics 2014 pharmacology
This document provides information on anemia, including definitions, classifications, causes, treatments, and adjunct therapies. It discusses the definition of anemia as a decrease in red blood cells or hemoglobin. Anemia is classified based on red blood cell morphology and underlying mechanisms. Common causes of anemia include blood loss, decreased red blood cell production, and increased red blood cell destruction. Treatments for anemia include oral and parenteral iron preparations as well as vitamin B12 and folic acid supplements. Adjuvant therapies that help with iron absorption like vitamin C are also discussed.
Anti anaemic drugs (1)
The document discusses anti-anemic drugs used to treat different types of anemia. It covers iron, cyanocobalamin, folic acid, erythropoietin, and hydroxyurea. Iron is used orally or parenterally to treat iron deficiency anemia. Cyanocobalamin and folic acid are given to treat megaloblastic anemia. Erythropoietin stimulates red blood cell production and is used for anemia of renal failure. Hydroxyurea increases fetal hemoglobin levels and is used for sickle cell disease.
Rare disease infographics
Breakdown of the numbers surrounding rare diseases and medicines being developed to treat them. Report was released on Monday, September 7, 2013.
Hematopoiesis 06 07
The document discusses hematopoiesis, the process of blood cell production. It describes how hematopoietic stem cells in the bone marrow differentiate into the various blood cell lineages through the action of growth factors. This includes erythropoiesis, granulopoiesis, megakaryopoiesis, and lymphopoiesis. It also covers reactive conditions that can cause changes in white blood cell counts, such as infections and inflammatory states.
Pharmacology of Drugs Affecting Blood
The document discusses drugs affecting blood and their mechanisms of action. It describes agents that stimulate or inhibit erythropoiesis, such as iron supplements or vitamin B12/folic acid deficiencies respectively. It also covers platelet aggregation inhibitors like aspirin, anticoagulants like heparin, and thrombolytic drugs like streptokinase used to treat thrombosis. Growth factors that stimulate leukopoiesis and chemotherapy drugs that inhibit it are also mentioned.
Hematopoiesis
This document discusses hematopoiesis, the formation of blood cells. It presents two main theories: the monoplastic theory which states all blood cells originate from one stem cell, and the polyplastic theory which suggests different blood cell types originate from different stem cells. The stages of blood cell development are described starting from the embryonic stage through the hepatic and medullary stages where development occurs in the bone marrow. The processes of erythropoiesis and granulopoiesis, leading to the production and maturation of red blood cells and white blood cells, are outlined in detail through their characteristic cell types.
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The document provides information about AIDS/HIV, including what it is, statistics on its prevalence worldwide and in the US, how it attacks and destroys cells in the immune system, how it is transmitted, early and late stage symptoms, treatment options, discrimination faced by those infected, prevention methods, and common myths about the virus. It notes that over 33 million people worldwide are infected with AIDS, mostly in developing countries, with over 1 million cases in the US alone resulting in over 550,000 deaths. HIV attacks and destroys CD4+ T cells, leaving the infected vulnerable to other diseases and infections.
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Immunodificiency
The word ‘immune’ refers to the resistance from infections and ‘deficiency’ refers to lack of protection or failure of the immune system. In this slide types of immunodeficiency, their characteristics, signs and symptoms, treatment and prevention are to be discussed.
Disease
The document discusses various diseases and how they are transmitted. It defines disease and describes how microbes can enter the body through close contact, touching infectious materials, being carried by healthy individuals, contact with pets or small animals, contaminated food or water, transplantation of infected organs, or through the air. It also discusses how immunity against diseases can occur naturally from things like breastfeeding or artificially through vaccines. Several nervous system diseases are then outlined such as cerebello-olivary degeneration, choroid plexus papilloma, Klüver-Bucy syndrome, locked-in syndrome, multiple sclerosis, and Parinaud syndrome.
Human health and disease
Human health and disease can be affected by many factors. Physical health involves avoiding disease while maintaining overall well-being through good hygiene, diet, exercise and sleep. Disease is any disorder that negatively impacts health and can be caused by infectious pathogens, genetic predispositions or environmental factors. Examples of major diseases discussed include influenza, malaria, cholera, measles, salmonella, gonorrhea, syphilis, tetanus, Alzheimer's, schizophrenia and muscular dystrophy.
Human health and disease
Human health relies on factors like diet, exercise, hygiene and sleep. Disease is any disorder that departs from good health, and can be acute or chronic. Diseases are diagnosed based on their symptoms. There are physical, infectious, and non-infectious diseases. Infectious diseases spread through pathogens like bacteria, viruses, fungi and parasites. Examples provided include influenza, measles, chickenpox, salmonella, cholera, typhoid and gonorrhea. Non-infectious diseases are not caused by pathogens and include mental illnesses and genetic disorders like Alzheimer's and Creutzfeldt-Jakob disease.
Hiv.Aids 6th Grade
This document provides information about HIV/AIDS for a 6th grade classroom. It defines the immune system and how HIV attacks and destroys immune cells. It explains that AIDS develops when the immune system is too weak to fight off infections. It discusses how HIV is transmitted and debunks myths about casual contact. It also outlines current antiretroviral drug treatments and challenges of living with HIV.
3 postsRe Topic 2 DQ 2A recent global health issue to affec.docx
3 posts
Re: Topic 2 DQ 2
A recent global health issue to affect many different world populations is Ebola. It has made news in the last few years due to multiple outbreaks. The Ebolavirus is part of the Filoviridae family and has six different species within its own categories. The most common for current outbreaks and infections is the Zaire strain (CDC n.d.). The incubation period spans from 2 days to 21 days in the susceptible host. It is transmitted via direct contact with infected bodily fluids and items contaminated with those secretions. Fatality rate for those infected is up to 50 percent, but early diagnosis and supportive treatment increases the odds of survival (CDC n.d.).
It is believed that the original host of the Ebolavirus is the fruit bat but can also be traced to other wild animals such as fruit flies, porcupines, and primates. The early signs/symptoms include fever, fatigue, muscle aches and pains, headache and sore throat. These symptoms often make it difficulty to distinguish the exact viral infection because many viruses mirror the same symptoms. These initial symptoms are followed by more intense vomiting, diarrhea, impaired kidney and liver functions, internal and external bleeding, decreased WBC and platelets, and increased liver enzymes. Hosts of the virus can only spread the infection when they have the active symptoms, therefore cannot spread infection during the incubation period. Exact diagnosis is done through several blood tests including the ELISA test, antigen-capture detection test, serum neutralization test, electron microscopy, and virus isolation by cell culture (CDC n.d.)
International monitoring of the Ebolavirus is done by the World Health Organization (WHO), under the United Nations. The WHO is considered to be the guardians of public health and security internationally and they are actively involved in setting up preventative and reactive programs/education. These programs are designed to decrease the possibility of an outbreak in any given population (GCU 2018). The response by WHO to the Ebolavirus outbreaks include supporting local and state health departments in disease detection, tracing the source of the outbreak, laboratory services, controlling the infection spread and instituting safe burial practices to prevent the spread of the virus (CDC n.d.). Preventative services by WHO include education on all levels to prevent outbreaks and attempts to break the chain of infection (CDC n.d.)
References
Centers for Disease Control and Prevention. (n.d.). Retrieved October 3, 2019, from
https://www.cdc.gov/
.
Grand Canyon University (Ed). (2018).
Community & public health: The future of health care.
Retrieved from https://lc.gcumedia.com/nrs427vn/community-and-public-health-the-future-of-health-care/v1.1/
.
Diseases
This document discusses various diseases including infectious diseases, water-borne diseases, and cancer. It begins with an introduction to diseases and defines different types. It then focuses on infectious diseases, describing causes such as bacteria and viruses. Common infectious diseases and their transmission are listed. Water-borne diseases and their causes from contaminated water are also reviewed. Finally, cancer is discussed, including causes from genetic mutations and carcinogens. Preventative measures are suggested for infectious diseases, water-borne diseases, and reducing cancer risk.
Diseases
This document discusses various diseases including infectious diseases, water-borne diseases, and cancer. It begins with an introduction to diseases and defines different types. It then focuses on infectious diseases, describing causes such as bacteria and viruses. Common infectious diseases and their transmission are listed. Water-borne diseases and their causes from contaminated water are also examined. Finally, cancer is defined and its causes from genetic mutations are explored. Preventative measures for infectious diseases, water-borne diseases, and reducing cancer risks are suggested.
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· The immune system is the body’s natural defense system that help.docx
· The immune system is the body’s natural defense system that helps fight infections. When a person’s immune system is impaired it can not effectively protect against infection. Ulcerative Colitis and Crohn’s disease are two major forms of inflammatory bowel disease that can cause the immune system to be weakened. Persons with IBD the immune system attacks the lining of the intestines, causing episodes of diarrhea, rectal bleeding, urgent bowel movements, abdominal pain, fever, and weight loss. Oral and injected immune-suppressing medicines can treat IBD. I have known a couple of people that suffered from these diseases and what they described about their condition seemed to be extremely painful often causing them to become hospitalized for a prolonged period. A very close friend of mine had 1 foot of his small intestine removed which he recovered from butt still had flare ups on occasion. In Crohn's disease, there are healthy parts of the intestine mixed in between inflamed areas. Ulcerative colitis, on the other hand, is continuous inflammation of the colon. Ulcerative colitis only affects the inner most lining of the colon while Crohn's disease can occur in all the layers of the bowel walls. People with Crohn’s disease of present symptoms such as diarrhea and pain in the abdomen followed by a remission in these symptoms currently aren’t any surgical solutions for this disease. On the other hand, with Ulcerative Colitis many times the large intestine can be removed to provide relief but in many cases there is complications after surgery.
· The immune system is the body's defense against infectious organisms. The immune system will also protect the body and help fight off diseases and infections. The system is made up of cells, tissues and organs. If the immune system is not functioning correctly it is considered impaired immunity and the body defense system will weaken. The individual will be more susceptible to infectious organisms such as viruses, bacteria, and foreign bodies. In my opinion the most important type of impaired immunity is autoimmunity. Autoimmunity will cause someone immune system to attack itself. The body has difficulty identifying nontoxic antigens, therefore the antibodies generated are useless. Another important impaired immunity is human immunodeficiency virus (HIV) which is an immunodeficiency which will harm the individual immune system; it will destroy the white blood cells that is used to fight infection. HIV will weaken the immune system and will put the individual at a major risk for severe infection and different forms of cancers. Acquire immunodeficiency syndrome (AIDS) will be the final stage of infection, as a result of HIV. If the individual is not on medication it can take years before human immunodeficiency virus to weaken the immune system to the point where the individual can develop acquired immunodeficiency virus (AIDS). Being diagnosed with HIV doesn’t mean they’ll develop acquired immunodeficien.
Pathophysiology of AIDS
Acquired immunodeficiency syndrome (AIDS) is a chronic condition caused by the human immunodeficiency virus (HIV) which weakens the immune system. HIV is transmitted through sexual contact, blood transfusions, needle sharing, or from mother to child during pregnancy or breastfeeding. As the virus destroys CD4 immune cells over time, it can lead to AIDS if untreated. While there is no cure for HIV/AIDS, antiretroviral treatment can effectively suppress the virus and prevent progression to AIDS.
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Handout materials compiled by Dr. Ananda Balayogi Bhavanani for the SEMINAR-CUM-WORKSHOP ON YOGA AND COMPLEMENTARY THERAPIES FOR AIDS/HIV organised by the Advanced Centre for Yoga Therapy Education & Research (ACYTER), JIPMER for medical & paramedical professionals and yoga therapists at JIPMER, Pondicherry. The event was held on 30th January 2010 at the Multipurpose Hall, JIPMER Nursing College, JIPMER, Pondicherry-6.
Autoimmunity
Here are the answers to the quiz questions:
1. 4. Absent immune response
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3. 2. Clonal deletion
4. 4. Positive selection of self reactive T cells
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EUR毕业证offer【微信95270640】《鹿特丹伊拉斯姆斯大学毕业证书原版制作EUR成绩单》【Q微信95270640】《仿制EUR毕业证成绩单鹿特丹伊拉斯姆斯大学学位证书pdf电子图》，A.为什么留学生需要操作留信认证?
留信认证全称全国留学生信息服务网认证,隶属于北京中科院。①留信认证门槛条件更低,费用更美丽,并且包过,完单周期短,效率高②留信认证虽然不能去国企,但是一般的公司都没有问题,因为国内很多公司连基本的留学生学历认证都不了解。这对于留学生来说,这就比自己光拿一个证书更有说服力,因为留学学历可以在留信网站上进行查询!
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Emphysema is a disease condition of respiratory system.
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It is a type of chronic obstructive
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English Drug and Alcohol Commissioners June 2024.pptx
English Drug and Alcohol Commissioners June 2024.pptx
Digital Health in India_Health Informatics Trained Manpower _DrDevTaneja_15.0...
Digital Health in India_Health Informatics Trained Manpower _DrDevTaneja_15.0...
rare diseases
- 2. Who wants to be a reach man or woman? So, what would you do, if you were a reach?
- 7. HIV is a virus spread through body fluids that affects specific cells of the immune system. Over time, HIV can destroy so many of these cells that the body can’t fight off infections and disease.
- 8. Ebola virus disease (EVD), formerly known as Ebola haemorrhagic (seriously bleed a lot) fever, is a severe, often fatal illness in humans. The virus is transmitted to people from wild animals and spreads in the human population through human-to-human transmission.
- 9. Influenza is a viral infection that attacks your respiratory system — your nose, throat and lungs. Influenza, commonly called the flu. Your best defense against influenza is to receive an annual vaccination.
- 10. Hepatitis (plural: hepatitides) is a medical condition defined by the inflammation of the liver and characterized by the presence ofinflammatory cells in the tissue of the organ. Hepatitis may occur with limited or no symptoms, but often leads to jaundice (a yellow discoloration of the skin. The hypothesis that they could be implicated is strongly supported by the defection of Hepatitis A (HAV) virus in a sample of frozen mixed berries.
- 11. Psoriasis
- 12. Psoriasis • Autoimmune diseases affect as many as 23.5 million people in the U.S., especially women, according to the National Institutes of Health. Prevalence of the diseases, in which the immune system attacks the body’s own organs, tissues and cells, is increasing, for reasons that aren’t clear. There is no cure.
- 13. Category: Diseases caused by genetic DNA is constantly subject to mutations, accidental changes in its code. Mutations can lead to missing or malformed proteins, and that can lead to disease. This is one reason that marriage between close relatives is discouraged; two genetically similar adults are more likely to give a child two copies of a defective gene. Some mutations happen during cell division, when DNA gets duplicated. Still other mutations are caused when DNA gets damaged by environmental factors, including UV radiation, chemicals, and viruses. Cancer usually results from a series of mutations within a single cell. Often, a faulty, damaged, or missing p53 gene is to blame. The p53 gene makes a protein that stops mutated cells from dividing. Without this protein, cells divide unchecked and become tumors.
- 15. Who wanted to be a doctor?
- 16. Ok, then we’re going to watch a video that really gross us out !!! that
- 17. Top 10 Rare Diseases and Rare Disorders You Do Not know about.
- 18. Take care your health and your family also!!! It is just your wealth which you have never want to loose…