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A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

Leontopodium alpinum extract may help reduce hair shedding by keeping hair in the growth phase longer.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

Mutation in hairless gene may increase hair loss risk.

Mutation in hairless gene may increase hair loss risk.

Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.

The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.

Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.

Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.

Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

Vitamin D3 and its receptor are important for hair growth, and understanding receptors could help treat hair graying and skin cancer.

Finasteride significantly increases scalp hair and prevents hair loss in young and middle-aged men.

The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.

The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.

Diabetes often causes various skin problems and complications.

Alopecia areata involves immune response and gene changes affecting hair loss.

The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.

Women with androgen excess, especially those with PCOS, have a much higher risk of heart disease and stroke.