DOOR Syndrome / Rare Genetic Disorder - Latest News and Research Updates

Health News Posted on April 11, 2021 -

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Medindia provides you with the latest news and research breakthroughs on DOOR Syndrome / Rare Genetic Disorder. Please find 325 such items on this topic.

Link Between COVID-associated Seizures and Higher Death Risk Identified

Hospitalized COVID-19 patients who experience non-convulsive seizures are at an increased risk of dying, suggested a new study published in the Annals of Neurology. "Most of these seizures are not obvious: Unlike seizures that make a ...

International Congenital Heart Defect (CHD) Day: Pain-free Childhood

Highlights: C ongenital heart defect (CHD) is one of the leading congenital disabilities (birth defects) that cause infant and childhood death, affecting 1 in every 100 children International Congenital Heart Defect (CHD) Day observed on ...

Functional Seizures Linked to Stroke, Psychiatric Disorders

A new study has confirmed associations between functional seizures and psychiatric disorders, including post-traumatic stress disorder, anxiety, depression, and sexual assault trauma. The research was carried by Lea Davis, PhD, associate ...

Innovative Gene Therapy Treats Deafness

Incorporating genetic material into the cells of the inner ear helps innovatively treat deafness, as per a study from Tel Aviv University (TAU), published in the journal EMBO Molecular Medicine. According to the World Health Organization, ...

Multiple Sclerosis Patients More Prone to Develop Seizures

Pathway that involves astrocytes – a type of central nervous system support cells, explain why seizures occur in patients with multiple sclerosis (MS), as per research at the University of California, Riverside School of Medicine, published in the ...

Researchers Identify Why MS Patients Get Seizures

New pathway involving astrocytes could shed light on why seizures happen in a subset of multiple sclerosis, or MS, patients, as per the research team at the University of California, Riverside School of Medicine. Study results, available in ...

Various Genes Involved in Congenital Heart Disease

Understanding how a broad network of genes and proteins go awry in a subset of congenital heart diseases, could help prevent and treat heart defects. The insights have been provided by the team of researchers at Gladstone Institutes and UC San ...

Magnetic Seizure Therapy may Treat Bipolar Depression

New study assesses whether magnetic seizure therapy (MST) can help reduce treatment-resistant depression in bipolar patients, reports a new study. The trial will study whether the novel therapy can deliver the same results as the standard of ...

FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

The US Food And Drug Administration (FDA) has approved lumasiran subcutaneous injection to treat adults and children with primary hyperoxaluria type 1 (PH1) - an ultra- rare genetic disorder. PH1 causes recurrent kidney stones and loss of kidney ...

Congenital Heart Defects Does Not Increase Severe COVID-19 Risk

People born with a heart defect are not at increased risk for moderate or severe COVID-19, finds a new study. The findings of the study are published in the Journal of the American Heart Association . The study included over 7,000 adults and ...

Risk of COVID-19 Low Among People With Congenital Heart Disease

People born with a heart defect had a low risk of moderate or severe COVID-19 infection, according to a new article in the Journal of the American Heart Association . In what may be the largest study of its kind to date, researchers at ...

New Treatment Benefits Patients With Rare Genetic Disorder

In patients with a rare and aggressive form of leukodystrophy, a class of targeted therapy drugs could help improve their neurological function, revealed new findings published today in the New England Journal of Medicine. ...

ESC Guidelines for Management of Congenital Heart Disease

Guidelines for adults living with a chronic lifelong condition of congenital heart disease are given by the European Society of Cardiology. More than 90% of babies born with heart defects survive into adulthood. As a result, there are now more ...

Gout Medicine Effective in Congenital Heart Defect

Probenecid, usually prescribed to treat gout, helps to improve heart function in a congenital heart condition called univentricular circulation. A drug used to treat gout, probenecid, may improve heart function in individuals with a particular ...

Link Between Seizures During Menstrual Cycle and Drug-resistant Epilepsy

Genetic generalized epilepsy called catamenial epilepsy in women during menstrual cycle has been associated with drug-resistant epilepsy, revealed a Rutgers co-authored study that may help lead to tailored treatments. The study is published in the ...

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Birth Defect - Genetic

Achondroplasia is a genetic disorder which is one of the leading causes of dwarfism

Genetic Testing of Diseases

Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques

Convulsions

A seizure or a convulsion is a result of abnormal electrical activity in the brain. However, not all convulsions amount to epilepsy, and it can affect an individual at any age.

Osteodystrophy Glossary

Autism

Autism is a neurodevelopmental disorder typically characterized by impaired social and communication skills combined with repetitive movements.

Hearing Loss in Young Children and Early Intervention

Early identification of hearing loss in infants and young children and treating hearing impairment can go a long way to integrate them into the society of talking people.