research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
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research Hydrochlorothiazide/indometacin
A woman developed lupus after taking hydroxyurea for two years.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Is 3α, 17β-androstanediol-glucuronide a diagnostic marker in women with androgenic manifestations?
3α, 17β-androstanediol-glucuronide is not a useful marker for androgen excess but may help monitor certain treatments.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research TGFβ ‐mediated inhibition of hypodermal adipocyte progenitor differentiation promotes wound‐induced skin fibrosis
Blocking TGFβ can help treat fibrotic skin conditions by promoting fat cell formation.
research Hepatotoxicity Complicating Flutamide Treatment of Hirsutism
Flutamide, a medication used for excessive hair growth, can cause severe liver damage in women.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Hollow-adjustable polymer microneedles for prolonged hypoglycemic effect on diabetic rats
research Skin Manifestations Associated with Autoimmune Liver Diseases: a Systematic Review
Autoimmune liver diseases are likely linked to certain skin conditions like vitiligo and psoriasis.
research Tardily accelerated neurologic deterioration in two-step thallium intoxication
Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
research In vivo and in vitro exposure to free fatty acids induce increased androgen production in animal models: a potential pathogenic factor of the polycystic ovary syndrome
Free fatty acids may increase androgen production, potentially contributing to polycystic ovary syndrome.
research A Detailed Investigation of Hirsutism in a Turkish Population: Idiopathic Hyperandrogenemia as a Perplexing Issue
The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research P33 Quantification of metabolic pathways in human hair follicles and their response to caffeine and N,N-dimethylglycine
Caffeine and DMG increase calcium influx in hair follicle cells without being toxic.
research Commonly encountered symptoms and their management in patients with cirrhosis
Cirrhosis affects quality of life with various symptoms, requiring a holistic, multidisciplinary approach for management.
research Iron deficient toxic milk leads to the mask phenotype in hephaestin knockout mice (907.4)
Iron deficiency in mothers causes hair loss in their baby mice.
research Epithelial-to-Mesenchymal Stem Cell Transition in a Human Organ: Lessons from Lichen Planopilaris
PPAR-γ agonists like pioglitazone may help manage lichen planopilaris but don't fully reverse scarring.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Pay-For-Delay Settlements in theWake of Actavis
Zinc deficiency in alcoholic cirrhosis patients causes skin issues, and zinc treatment improves symptoms.
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 Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Interventional Evaluation of Monoammonium Glycyrrhizinate-Glycine/DLMethionine Combination Tablets in Mild Alopecia Areata
The combination therapy may be more effective for mild alopecia areata, especially in patients with allergies.
research Hydroa Vacciniforme with Mucosal Involvement and Recalcitrant Periodontitis and Multiple Virus Re-activators after Sun-exposure
Women with early onset androgenetic alopecia have worse lipid profiles.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.