Archive for the tag: Disease

Huntington Disease

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Huntington disease is caused by a mutation in the HTT gene. Understanding how the mutation causes neurodegeneration might help researchers develop treatments that protect brain function. This animation describes the genetic defect that underlies Huntington disease. Created by the editors at Nature Reviews Disease Primers.

Learn more about Huntington disease with the Primer http://dx.doi.org/10.1038/nrdp.2015.5 and PrimeView http://go.nature.com/hPMENh
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Understanding Hyperthyroidism and Graves Disease

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This video contains a detailed and simplified explanation about hyperthyroidism and Graves Disease. We discuss some definitions around hyperthyroidism, the different causes, the universal features and the signs and symptoms that are unique to each cause, Graves disease, toxic multinodular goitre, thyroid storm and how we manage hyperthyroidism.

More written notes and diagrams about hyperthyroidism are available on the website at www.zerotofinals.com/hyperthyroid

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Disease terminology, talking power point

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Health Vocabulary! https://7esl.com/health-healthcare-vocabulary-english/

Learn common names of illnesses and diseases in English, i.e. asthma, a backache, a broken leg, a cold, a cough, an earache, a fever, the flu, a headache…

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Huntington's Disease: Can Gene Therapy Help?

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Huntington's Disease: Can Gene Therapy Help?

Huntington’s disease is a genetic disorder caused by a breakdown of nerve cells in the brain. The disease affects an individual’s ability to move, their mood, and how they think. There’s currently no cure for Huntington’s disease, but there are types of gene therapy approaches that may offer hope for managing or slowing symptoms.

What is Huntington's disease?

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Huntington’s disease is a genetic, neurodegenerative disease with a devastating impact on individuals and entire families. Despite knowing the exact cause of Huntington’s disease since 1993, there still remains much unknown about this complex brain disease.

In this animation, Lauren Byrne, a Research Fellow at the UCL Huntington’s Disease Centre shares her personal experience with Huntington’s. She takes us inside the brain to explore the mechanism of this disease leading to the cognitive, behavioural and motor symptoms in Huntington’s.

This is a Roche video developed in collaboration with Ed Wild, also from UCL Huntington’s Disease Centre, George Yohrling from the Huntington’s Disease Society of America, and Roger and Brenda Wylie, a family living with Huntington’s disease.

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Roche has been committed to improving lives since the company was founded in 1896 in Basel, Switzerland. Today, Roche creates innovative medicines and diagnostic tests that help millions of patients globally.

Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the world’s largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and neuroscience.

For more information and insights visit: https://www.roche.com/
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Genetic inheritance of disease

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What Are the Signs of Huntington's Disease?

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UVA Neurologist Madaline Harrison, MD explains the signs of Huntington’s Disease.

Huntington’s disease is a rare genetic disorder that causes programmed degeneration of brain cells, called neurons, in certain areas of the brain. This talk explores the diagnosis, stages of the disease, and its treatment. The Stanford Huntington’s Disease and Ataxia Clinic has been named a Center of Excellence by the Huntington’s Disease Society of America. This talk reflects the treatment standards offered at Stanford.

Speaker: Veronica Santini, MD Clinical Instructor, Neurology and Neurological Sciences, Stanford University Medical Center

Huntington's Disease Testing Process – Wayne's Story

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Wayne, from England, very honestly discusses the testing process and his experience of testing positive.

To learn more about HDYO and to support the organization – please visit www.HDYO.org
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Huntington's Disease, Genetics, Pathology and Symptoms, Animation

(USMLE topics, dementia) This video is available for instant download licensing here : https://www.alilamedicalmedia.com/-/galleries/narrated-videos-by-topics/dementia/-/medias/742d01b3-b60e-4087-b668-de922c9f107c-huntington-s-disease-narrated-animation
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Voice by: Sue Stern.
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All images/videos by Alila Medical Media are for information purposes ONLY and are NOT intended to replace professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding a medical condition.
Huntington’s disease, or HD, is an inherited neurodegenerative disorder in which brain cells are damaged and die over time, leading to progressive loss of mental and physical abilities.
The diseases is caused by an abnormal version of a protein named huntingtin, or HTT. A normal version of HTT has a stretch of 10-35 repeats of CAG nucleotide triplets, which encode for a stretch of the amino acid glutamine. In people with HD, the HTT gene has more than 35 CAG repeats, sometime more than 120 (juvenile onset). 26-35 = intermediate. The abnormally long stretch of polyglutamine changes the structure of the normal HTT protein, causing fragmentation and aggregations, which are toxic to nerve cells. The effect is specific in the basal ganglia of the brain, most notably in the striatum, which controls movement by inhibiting unwanted movements. This explains the most prominent symptoms of the diseases – uncontrollable movement, known as Huntington’s chorea – dance-like movements of the face and arms; and motor speech disorders, dysphasia aspiration – most common cause of death in HD patients.
A person has 2 copies of the HTT gene but one abnormal copy is enough to cause the disease. Children of an affected parent has a 50% chance of inheriting the abnormal copy of the gene, and hence the disease. This pattern of inheritance is known as autosomal dominant.
The onset and progression of the disease depends on the number of CAG repeats, or the size of expansion – the higher the number of repeats, the earlier the age of onset and the faster it progresses.
The high degree of repetition also increases the likelihood of inaccurate reading during DNA replication. The “confused” DNA polymerase may add more repeats as it loses track of repeat number. As the expanded HTT gene is transmitted to the next generation, the number of repeats often increases. This means a phenotypically-normal parent with 30-35 repeats may give his child a 40-repeats HTT gene who would develop the disease. As the size of polyglutamine increases from generation to generation, the onset of symptoms is getting earlier with each generation. This phenomenon is called anticipation.
An average person with a 40-50 CAG repeats in the HTT gene usually develop symptoms in their 40s. People with more than 60 repeats could show signs of the disease in their childhood (juvenile form). The first signs are subtle mental and cognitive disturbances that may go unnoticed. As the disease progress, chorea becomes most prominent, followed by motor speech disorders, rigidity, swallowing difficulty and dysphasia, personality changes, memory loss and other cognitive and psychiatric impairments.
Diagnosis is confirmed with genetic testing, genetics counseling is available for people with family history of HD.
Life expectancy in HD is generally around 10 to 20 years following the onset of visible symptoms. Most life-threatening complications result from muscle coordination with pulmonary aspiration, which also increases the risks of pneumonia, being the most common cause of death in HD patients.
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Hemoglobin-H Disease and Hemoglobin Bart's Disease

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Hemoglobin-H Disease and Hemoglobin Bart's Disease

α-Thalassemia mutations affect up to 5% of the world’s population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes.
Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, recurrent transfusions, and growth delay.
Hemosiderosis develops secondary to increased iron absorption, as well as transfusion burden. Hemoglobin Bart’s hydrops fetalis is usually a fatal in utero disease caused by the absence of α genes. Population screening to identify at-risk couples is essential. Affected pregnancies result in severe fetal and maternal complications.
Doppler ultrasonography with intrauterine transfusion therapy may improve the fetal prognosis but creates ethical challenges for the family and health providers. (See citation below)

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Topic References
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🌎https://www.stjude.org/disease/alpha-thalassemia.html
🌎https://www.stanfordchildrens.org/en/topic/default?id=alpha-thalassemia-in-children-90-P02329
🌎https://ghr.nlm.nih.gov/condition/alpha-thalassemia

Description’s Citation
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Vichinsky, Elliott P. “Clinical manifestations of α-thalassemia.” Cold Spring Harbor perspectives in medicine vol. 3,5 a011742. 1 May. 2013, doi:10.1101/cshperspect.a011742

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What is Graves’ disease?

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Graves’ disease is an autoimmune disease that causes your thyroid gland to create too much thyroid hormone. Thyroid hormones affect your nervous system, brain development and body temperature.

www.uwhealth.org/endocrine-surgery/thyroid-conditions/51430
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