research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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research Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research Study of the Association of Some Blood and Urine Markers in Diagnosing in Pediatric Systemic Lupus Erythematous.
Blood and urine markers are important for diagnosing lupus in children.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
research CERTAIN PHASES OF SULFUR METABOLISM OF THE SKIN
Cystine is crucial for forming keratin in hair, wool, and nails.
research Hair Loss and 5-Aminosalicylic Acid Enemas
5-aminosalicylic acid enemas may cause hair loss.
research A HISTOCHEMICAL TEST FOR CITRULLINE ADAPTATION OF THE CARBAMIDO DIACETYL REACTION TO HISTOLOGIC SECTIONS WITH POSITIVE RESULTS IN PILOMATRIXOMAS (CALCIFYING EPITHELIOMAS)
A new test more accurately detects citrulline in hair follicles and pilomatrixomas.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Some Effects Related to the Potassium and Lysine Intake of Rats
Higher potassium intake may protect against hair loss and liver fat in lysine-deficient rats.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Ursolic acid reduces prostate size and dihydrotestosterone level in a rat model of benign prostatic hyperplasia
Ursolic acid can shrink the prostate and lower a hormone linked to prostate growth in rats.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria
Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research A patient with eosinophilia-myalgia syndrome.
The document's conclusion cannot be determined from the provided text.
research Efficacy of Upadacitinib in Treating Alopecia Areata, Atopic Dermatitis, and Th1 Comorbidities in Pediatric Patients: A Comprehensive Case Series and Literature Review
Upadacitinib is safe and effective for treating alopecia areata and atopic dermatitis in children.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research Significant improvement with ivarmacitinib after suboptimal response to tofacitinib in severe alopecia areata: a case report and literature review
Ivarmacitinib significantly improved hair regrowth in severe alopecia areata after tofacitinib was less effective.
research New Perspectives on Nutraceutical Insulin Sensitizing Agents in the Treatment of Psoriasis and Other Dermatological Diseases
Nutraceutical insulin-sensitizing agents may help treat skin conditions like psoriasis and acne.
research Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
People with Collagen VI-related myopathies may often have hair loss and scalp issues.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Uric Acid in a Male’s Life
High uric acid can cause health issues, so managing it with lifestyle changes is important.
research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
A boy with a rare skin condition improved quickly after starting zinc supplements.