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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

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

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

Mutation in hairless gene may increase hair loss risk.

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

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

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

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

Astrotactin2 affects hair follicle orientation and skin cell polarity.

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

Removing part of the vitamin D receptor stops vitamin D from working properly.

About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.

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.

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

The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.

Fatty acid transport protein 4 is essential for skin and hair development.

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

RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.

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

Non-ablative and ablative fractional lasers helped hair growth in some cases without major side effects, but didn't work for all hair disorders.

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.

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

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

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.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

Curcumin and its derivatives can block an enzyme important for making testosterone, with one derivative being particularly strong.

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