Zellweger Syndrome
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Zellweger syndrome is a rare genetic disease caused by mutations in the PXR1 gene, which impacts the function of peroxisomes. This can result in problems during development, enlarged livers, vision issues, and death often within the first year of life. While there is currently no cure, scientists continue research in hopes of finding treatments to extend survival of those affected by this condition.
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Zellweger syndrome is a rare and severe genetic disorder that damages the white matter of the brain and affects how the body metabolizes substances. It is caused by defects in the PEX genes required for normal peroxisome formation and function. Diagnosis involves tests to check for high organic compound levels and liver biopsy to examine peroxisomes. Physical symptoms include distinctive facial features, eye abnormalities, loose skin, weakness and seizures. There is no cure and most infants do not survive past 6 months due to organ failure or other issues. Treatments are limited to symptom management.
Zellwenger Syndrome
Zellweger syndrome is a rare genetic disorder present at birth characterized by the absence of peroxisomes in liver, kidney, and brain cells. Peroxisomes help break down fatty acids. Symptoms include an enlarged head, seizures, vision/hearing problems, and liver/kidney issues. Affected infants often die in their first year due to their bodies slowly shutting down, as there is currently no cure.
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3. Mucopolysaccharidoses result from deficiencies of lysosomal enzymes involved in glycosaminoglycan breakdown, leading to their accumulation. MRI
Peroxisomes
This presentation summarizes key information about peroxisomes. Peroxisomes are membrane-bound organelles found in the cytoplasm of eukaryotic cells that contain oxidase enzymes and help breakdown hydrogen peroxide. They have a dense matrix and participate in important functions like fatty acid breakdown, alcohol detoxification, and bile acid/cholesterol synthesis. Disorders can arise if single peroxisomal enzymes are abnormal, affecting the nervous system, liver, and other organs. Two examples given are adrenoleukodystrophy, which involves VLCFA metabolism, and Zellweger's syndrome, caused by a lack of functional peroxisomes due to mutations affecting transport of enzymes.
GOUTY ARTHRITIS-PSEUDOGOUT-TREATMENT:Dr.Sandeep Agrawal,Agrasen Hospital,Gond...
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Rheumatoid Arthritis,Psoriatic arthritis,Reiters syndromeLos peroxisomas
Los peroxisomas son orgánulos esféricos y granulares delimitados por una membrana única que contienen enzimas destructivas. Tienen un corto periodo de vida de aproximadamente 5 días y luego son destruidos por autofagocitosis. Realizan reacciones metabólicas bajo la luz solar que producen peróxido de hidrógeno, el cual es descompuesto en agua y oxígeno por la enzima catalasa para evitar daño celular. Su función principal es de naturaleza enzimática y catalítica.
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.
Down syndrome ppt for UGs
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
Ictericia
El documento describe la anatomía y fisiología del hígado, así como las causas y clasificación de la ictericia. Explica que la ictericia se produce por el aumento de bilirrubina en la sangre, y clasifica las causas en hepáticas, obstructivas y hemolíticas. Detalla los procesos de metabolismo de la bilirrubina, transporte y excreción a través del hígado.
Gout presentation
Gout is a metabolic disease caused by elevated levels of uric acid in the blood. It most commonly manifests as recurrent attacks of inflammatory arthritis. The uric acid can crystallize and deposit in joints, tendons and surrounding tissues. Hyperuricemia alone does not indicate gout; a person must experience signs and symptoms. Gout is typically treated by managing comorbidities, lifestyle modifications, medications to prevent attacks such as colchicine or NSAIDs, and long-term urate-lowering therapy with allopurinol or probenecid to reduce uric acid levels. Surgical intervention may be considered for severe tophaceous gout resulting in joint destruction.
Mutaciones cromosómicas
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Los peroxisomas y Su importancia en la vida CELULAR
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Everything you Need to Know About Progeria
A power point I made for my Honor's Biology class while learning about genetics.
I hope you find it useful!
Ehlers danlos
The document discusses Ehlers-Danlos syndrome (EDS), a rare genetic connective tissue disorder that the author has. EDS causes joint hypermobility, fragile tissue, and chronic pain issues. While there is no cure for EDS, doctors can help manage symptoms like pain and fatigue. The author found relief after switching to a new pain management plan and being able to reduce medications. EDS affects the author's daily life, but she celebrates the good days and tries to make the most of periods of remission from the disease's progression.
Alzheimers
This document provides an overview of Alzheimer's disease, including its symptoms, causes, diagnosis, and research efforts. It discusses how Alzheimer's is becoming more prevalent as the population ages. While the exact causes are still unknown, research is focused on plaques and tangles in the brain as well as genetic risk factors. Diagnosis considers memory impairment, cognitive tests, and brain scans. The document outlines ongoing research into potential treatments and prevention strategies. It emphasizes that Alzheimer's is a growing public health concern that will require continued scientific progress and public awareness.
Gene Therapy
The document discusses gene therapy and its potential uses. Gene therapy aims to treat or prevent diseases by replacing mutated genes with healthy copies, knocking out mutated genes, or introducing new genes. While still a work in progress, gene therapy has shown promise in animal studies for conditions like adrenoleukodystrophy. Some human studies have been successful, but others have led to complications like leukemia, highlighting the risks that still need to be addressed. Overall, the document outlines the progress and challenges of gene therapy as a developing medical technique.
Ehlers danlos
The document discusses the author's experience with Ehlers-Danlos syndrome (EDS), a genetically inherited connective tissue disorder caused by defective collagen production. She describes the long process of being misdiagnosed for years before an EDS expert definitively diagnosed her in 2006. EDS explains her chronic joint pain, fatigue, insomnia and other symptoms from childhood through her 30s. While there is no cure, managing pain through medication and lifestyle changes has helped improve her condition, though her jaw continues to deteriorate and require surgery. The passage from the Ehlers-Danlos National Foundation provides background on EDS, explaining it is a group of disorders caused by problems with collagen that leads to tissue fragility and a wide range of
Amyotrophic lateral sclerosis - a story about an Estonian who was diagnosed w...
Jane Paberit, a woman from Estonia, was diagnosed with ALS in 2017. Her diagnosis and decision to seek assisted suicide in Switzerland sparked public discussions in Estonia about issues like euthanasia, palliative care, and what constitutes a dignified end of life. ALS is a rapidly progressive nervous system disease that leads to loss of muscle function and death, with about 20-25 new cases diagnosed in Estonia each year. Jane's illness progressed quickly, making daily tasks difficult, and she chose assisted suicide rather than prolonging her life through medication.
Progeria
The clinical presentation of the 23-year-old male patient, Ammar, is consistent with progeria syndrome as he has exhibited signs of premature aging such as growth retardation, skin changes, hair loss, and joint stiffness since childhood. Genetic testing confirmed a mutation in the LMNA gene associated with Hutchinson-Gilford progeria syndrome. While the average life expectancy is 13 years for individuals with this rare genetic condition, the patient remains alive at 23 years of age.
genetic disorder and cancer.pptx
genetic disorder and cancer.pptxdepartment of pharmaceutical sciences, dr. harisingh gour university sagar mp.
1. The document discusses genetic disorders and cancer, covering topics like common genetic disorders, causes of genetic disorders, symptoms, single gene disorders, cancer characteristics, and genes commonly mutated in cancer.
2. It provides details on different types of genetic disorders like chromosomal, complex/multifactorial, and single-gene disorders. Common examples like Down syndrome and cystic fibrosis are mentioned.
3. The causes of genetic disorders include gene mutations from environmental factors like chemical exposure. Symptoms vary depending on the disorder but can include developmental delays, organ issues, and neurological problems.
4. Single gene disorders can be dominant, recessive, or X-linked. Cancer arises from gene mutations that disrupt cell growthEhlers danlos
The document discusses the author's experience with Ehlers-Danlos syndrome (EDS), a genetically inherited connective tissue disorder. After years of being misdiagnosed, the author received a definitive diagnosis of EDS in 2006. EDS causes chronic pain, fatigue, and other symptoms. While there is no cure, the author's condition improved after finding a pain doctor who helped manage symptoms. The document also provides information from the Ehlers-Danlos National Foundation, explaining that EDS is caused by defects in collagen that can result in joint hypermobility and tissue fragility.
Elhers danlos
The document discusses the author's experience with Ehlers-Danlos syndrome (EDS), a genetically inherited connective tissue disorder. After years of being misdiagnosed, the author received a definitive diagnosis of EDS in 2006. EDS causes chronic pain, fatigue, and other symptoms, and has no cure. The author's condition deteriorated in her 30s but improved after finding a pain management doctor. The Ehlers-Danlos National Foundation summary explains that EDS is caused by defects in collagen production and affects over 1.5 million people worldwide, causing joint hypermobility and tissue fragility.
Are Sleep Issues Genetic?
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Goodpasture Syndrome
A 10-year-old boy named Raphael was diagnosed with Goodpasture Syndrome, a rare disease that attacks the lungs and kidneys. He developed total kidney failure and required intensive dialysis treatment. His father Duane donated one of his kidneys to save Raphael. The kidney transplant was a success, allowing Raphael to return to normal life and activities. Donating a kidney was the father's instinctive reaction to save his only child from this life-threatening disease.
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.
Alzheimer’s Disease
The document provides an overview of Alzheimer's disease including its causes, symptoms, diagnosis and potential treatments. It discusses how the disease is characterized by progressive cognitive decline and brain cell loss and death. The main causes proposed are the amyloid hypothesis, which suggests beta-amyloid plaques are fundamental, and the cholinergic hypothesis, which implicates reduced acetylcholine levels. The mechanisms involve plaque and tangle formations that disrupt cell signaling in the brain and its neuron transport system.
Multiple Sclerosis
An educative power point presentation about the disease multiple sclerosis. This might help you. :))))
Dental management downs syndrome, fetal alcohol syndrome
1) The document summarizes dental management considerations for patients with Down syndrome, fetal alcohol syndrome, and cerebral palsy. It describes the characteristic oral findings, clinical features, and etiology of each condition.
2) It provides guidance for treating such patients in dental offices, including moving at a slower pace, using sedation if needed, and prescribing adequate analgesia since patients may not express pain clearly.
3) The document also outlines specific oral health challenges faced by patients with each condition and suggestions for home care, such as using the smallest toothbrush for those with misaligned teeth.
Progeria Power Point Edited
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic condition that causes rapid aging in children. It is caused by a mutation in the LMNA gene which produces lamin A protein that holds the nucleus of cells together. Children with progeria appear healthy at birth but start displaying signs of aging between 1-2 years old, such as hair loss, failure to grow, and cardiovascular issues. There is no cure for progeria and affected children typically live into their late teens or early twenties, most commonly dying from heart disease. While research continues for a cure, current treatment focuses on alleviating joint issues and maintaining mobility and quality of life.
Lorenzo' oil (Autosaved)
1. The document discusses Adrenoleukodystrophy (ALD), a rare genetic disorder, and summarizes the movie Lorenzo's Oil which portrays the journey of a family dealing with a child who has ALD.
2. It then provides details on the history and discovery of ALD, describing it as a disorder resulting from the degradation of the myelin sheath surrounding neurons caused by the accumulation of long chain saturated fatty acids in the brain.
3. The genetics behind ALD are explained, noting that it is an X-linked recessive genetic disorder that predominantly affects males, with sons having ALD if they inherit the recessive allele from their mother.
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