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Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

Taking too much biotin can mess up blood test results, which might lead to wrong diagnoses and treatments.

A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.

High CRP levels could indicate vitamin D deficiency in people with alopecia areata.

Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.

PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.

Drug repurposing speeds up drug development, saves money, and has led to about a third of new drug approvals.

Hormonal imbalances contribute to female hair loss, and trichoscopy is a useful diagnostic tool.

Researchers created a rat model to study skin damage caused by radiation, which could help develop new treatments.

Ketoconazole can treat ovarian hyperandrogenism but should be used cautiously with monitoring and birth control.

Plasma-activated liquid can kill harmful cells, speed up wound healing, and potentially treat cancer without damaging healthy cells.

EtG in hair can help detect alcohol use but may be inaccurate in people with certain health conditions.

A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.

The 2023 guideline for PCOS suggests using updated diagnostic criteria, assessing related health risks, and recommends lifestyle changes and specific treatments for symptoms and fertility issues.

AE can have varied symptoms and genetic causes, but zinc therapy helps.

Polycystic ovary syndrome, a disorder causing menstrual issues and infertility, can be treated with lifestyle changes, medication, herbal remedies, surgery, and assisted reproductive techniques like artificial insemination and IVF.

Androgen use may increase the risk of stroke, but more research is needed.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.

A pet ferret had a serious infection from Mycobacterium xenopi, which can spread to humans.

AMH levels in adolescents with PCOS are not affected by their weight.

Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.

Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.