research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
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research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Viewpoint 1
Hidradenitis suppurativa is a complex, non-infectious skin condition with no single cause, difficult to treat, and greatly affects quality of life.
research The Near-Naked Hairless (Hr) Mutation Disrupts Hair Formation but Is Not Due to a Mutation in the Hairless Coding Region
The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
research Metabolic study of androsta-1,4,6-triene-3,17-dione in horses using liquid chromatography/high resolution mass spectrometry
The study found that urine metabolites M1b or M4 are the best indicators of ATD use in horses, with detection possible up to 77 hours in urine and 28 hours in blood.
research Solubilization and Solid‐State Characterization of a Poorly Soluble 5‐α Reductase Inhibitor
GI197111X is best dissolved in Capmul MCM for trials.
research Platelet-Rich Plasma and Acellular Dermal Matrix in the Surgical Treatment of Hidradenitis Suppurativa: A Comparative Retrospective Study
PRP and ADM-STSG co-grafts improve healing and reduce complications in hidradenitis suppurativa surgery.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Rapid and Sensitive LC–MS–MS Method for the Simultaneous Estimation of Alfuzosin and Dutasteride in Human Plasma
A fast and accurate method was developed to measure alfuzosin and dutasteride in human plasma.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Isolation and Characterization of Mouse High-glycine/Tyrosine Proteins
Mouse high-glycine/tyrosine proteins have distinct patterns in hair follicles, peaking at specific hair cycle days.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Impact of adipose-derived stem cells on engineering hair follicle germ-like tissue grafts for hair regenerative medicine
Adding human fat-derived stem cells to hair follicle grafts greatly increases hair growth.
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research ACP Broadsheet 131: March 1992. Hirsute women: should they be investigated?
Most women with excess hair growth need only a clinical evaluation and minimal tests unless they show signs of virilism.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Sexual dysfunction, including hypoactive sexual desire disorder: Diagnosis and treatment recommendations
Testosterone therapy can improve sexual function in women but long-term safety is unclear.
research Comparative studies of hair shaft components between healthy and diseased donors
Hair analysis can help identify specific minerals and amino acids linked to various diseases.
research Comparative GC-MS Based In vitro Assays of 5α-Reductase Activity Using Rat Liver S9 Fraction
The S9 fraction with GC-IDMS is effective for measuring 5α-reductase activity.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.