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A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

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

Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.

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

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Some families have a genetic condition where they are born with irregular scalp defects.

Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.

Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.

Young women in Karachi have low awareness of PCOS and its risks, needing more education.

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

Inverted Follicular Keratosis is rare but should be considered in scalp lesion diagnoses for all ages.

Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.

PCFCL may have unrecognized subtypes and needs more research.

Scientists created a cell model to study and find treatments for a skin disease called RDEB.

Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.

Some people have a genetic variation that makes them less effective at breaking down drugs.

848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.

An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.

The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.

A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.

Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.

PCOS affects many young women in KSA, with mild cases being most common.

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

Proper diet management is crucial for preventing severe symptoms in phenylketonuria.

Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.