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The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.

Biotinidase deficiency has various symptoms and can be treated with biotin supplements.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.

A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Genetic testing for EGFR mutations is crucial in similar cases.

Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.

The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.

Finasteride blocks deoxycorticosterone's anticonvulsant effects in infant rats, but indomethacin doesn't.

17α-estradiol is a safe estrogen that might protect the brain and doesn't cause feminization, needing more research for treating brain diseases.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A woman's liver problems improved after she stopped taking spironolactone.

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

Treating epilepsy is complex, requiring careful drug choice and patient adherence to manage seizures and side effects.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

A document listed serious side effects from various drugs, including deaths and diseases, emphasizing the importance of being aware of drug side effects.

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.