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The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.

Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.

A gene mutation worsens skin irritation in mice due to a lack of certain fats.

Thyroid disorders are common and affect health and quality of life, especially in women, highlighting the need for more awareness and iodine intake.

A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.

Ginsenoside compound K shows promise for treating metabolic diseases like obesity and diabetes, but more research is needed on its safety and effectiveness.

Tyrosine Kinase Inhibitors are effective against cancer but can cause skin, digestive, and blood side effects, including hair loss.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.

A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

Netherton syndrome causes specific skin and hair changes that help in early diagnosis.

Proper diet, monitoring, and protein supplements are crucial after bariatric surgery to prevent severe malnutrition.

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

Activating PKM2 and Wnt/β-catenin signaling together can potentially enhance hair growth and could be a treatment for hair loss.

Use oral or enteral supplements when possible and reserve IV trace elements for those solely dependent on PN.

Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.

A gluten-free diet and removing the parathyroid adenoma helped a girl with coeliac disease and high calcium levels start puberty.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

Women with epilepsy on certain medications might gain weight and have higher thyroid-stimulating hormone levels, but not more polycystic ovarian syndrome.

Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.

Ginsenoside compound K shows promise for treating metabolic diseases like diabetes and obesity.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.

A gene mutation causes monilethrix in a Chinese family.

The new model helps understand and develop treatments for genetic skin disorders like AEC.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.