research First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
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research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Autotaxin-LPA Signaling Contributes to Obesity-Induced Insulin Resistance in Muscle and Impairs Mitochondrial Metabolism
Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Pityrosporum Species as a Cause of Allergy and Infection
The yeast Pityrosporum ovale can cause skin allergies and infections, and antifungal treatments like ketoconazole are effective against it.
research Role of 5α-Reductase Inhibitors in Benign Prostatic Diseases
5α-reductase inhibitors help shrink the prostate, improve urinary symptoms, and may reduce prostate cancer risk.
research Biochemical and Trichological Characterization of Diffuse Alopecia in Women
Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.
research Acrodermatitis Dysmetabolica With Concomitant Acquired Acrodermatitis Enteropathica in a Patient With Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Metabolomic Analysis of SMP30/GNL Knockout Mice Treated with Fermented Vegetable and Fruit Extract (OM-X)
OM-X® helped prevent negative effects of Vitamin C deficiency in mice, suggesting it could protect organs and regulate metabolism.
research Angioneurotic Edema Without C1 Esterase Inhibitor Abnormality: Efficacy of Tranexamic Acid
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
research Telogen Effluvium: A Comprehensive Review
The document concludes that Telogen Effluvium is a hair loss disorder that can be assessed with the modified wash test and may be treated with clobetasol foam, with patient management being important.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Transforming Growth Factor-Alpha Immunoreactivity During Induced Hair Follicle Growth Cycles in Sheep and Ferrets
TGF-alpha is present in sheep and ferret skin and may affect hair growth without directly stimulating cell proliferation.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Clinical Study of Patients with Female Pattern Hair Loss Over a 10-Year Period
Treating underlying metabolic and hormonal issues is key to managing female hair loss.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Study of Hairfall Through Cohen Hair Loss Index With Reference to Different Temperaments
Hair loss patterns are linked to temperament and can help diagnose it.
research In Vivo Uptake and Metabolism of Testosterone by the Skin and Other Tissues of the Rat
Rat skin takes up and processes testosterone differently than other organs, with testosterone being more important for the skin than its metabolite 5α-DHT.
research Changes in Murine Hair with Dietary Selenium Excess or Deficiency
Too much or too little selenium in the diet can cause hair loss and graying in mice.
research Premature Graying of Scalp Hairs Treated with Ferrous Sulfate
Iron supplements may reverse premature hair graying caused by iron deficiency.
research Male Pattern Androgenetic Alopecia in an Indian Context: A Perspective Study
At least 87% of Indian men experience hair loss, with type II being most common and severity increasing with age.
research Disruption of the Hedgehog Signaling Pathway Contributes to Hair Follicle Cycling Deficiency in VDR Knockout Mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research Androgens and Antiandrogens: Impact on Women's Health and Hormone Replacement Therapy
Male hormones, or androgens, affect women's health in areas like mood and bone density, and hormone replacement therapy using antiandrogenic progestogens can improve mood disorders and alertness in menopausal women.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.