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930-960 / 1000+ resultsresearch Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA
The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
research Prevention of developmental delays among children at public healthcare facilities of Pakistan: protocol for a cluster Randomized Controlled Trial
The document outlines a plan to test if certain methods can prevent developmental delays in children at Pakistani public healthcare centers.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research Study on diagnosis and identification of etiological agent in mycotic infected dogs
Microsporum spp. is the most common fungus causing skin infections in dogs.
research Shushing down the epigenetic landscape towards stem cell differentiation
The document concludes that pig iPSCs show promise for transplant therapies and the field is advancing in controlling cell behavior for biology and medicine.
research Spatial transcriptomics reveals asymmetric cellular responses to injury in the regenerating spiny mouse (Acomys) ear
The spiny mouse regenerates ear tissue asymmetrically, with gene expression differences possibly explaining its unique healing abilities.
research Clinical, Dermoscopic and In-Vivo Reflectance Confocal Microscopy Evaluation of a Case of Graham Little-Piccardi-Lassueur Syndrome Successfully Treated with Narrowband-UVB Phototherapy
Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
research A Case Report of Thrombotic Thrombocytopenic Purpura Associated with Systemic Lupus Erythematosus: Overlapping Features
Early diagnosis, intensive therapy, and careful follow-up are crucial for managing overlapping TTP and SLE.
research 48853 The AI Doctor will see you now: Can ChatGPT-4 be used to safely counsel patients with allergic contact dermatitis?
ChatGPT-4 can help with allergic contact dermatitis but shouldn't replace expert doctors.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Short anagen syndrome: A case series and algorithm for diagnosis
Biotin, alone or with minoxidil, effectively treats short anagen syndrome.
research PNU 157706, a novel dual type I and II5α-reductase inhibitor
PNU 157706 is a more effective treatment than finasteride for conditions caused by DHT, like enlarged prostate and hair loss.
research P-13 Some biomechanical properties of human hair keratin (HHK) artificial tendon
research Updates from the British Association of Dermatologists 91st Annual Meeting, 5-7 July 2011, London, U.K.
New treatments and management strategies for skin conditions like melanoma and Spitz naevi were discussed at the dermatologists' meeting.
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research Patient prioritisation of impact items to develop the patient‐reported impact of dermatological diseases (PRIDD ) measure: European Delphi data
Patients with skin diseases rated psychological effects as most impactful, needing a treatment approach that addresses both mind and body.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research 1301 STIM1, but not STIM2, is the calcium sensor critical for sweat secretion
STIM1 is essential for sweat secretion.
research BMP2-mediated PTEN enhancement promotes differentiation of hair follicle stem cells by inducing autophagy
BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
research The interaction between finasteride and corticosterone levels: implications for depression-, and anxiety-like behavior and hippocampal synaptic plasticity in male rats
Chronic finasteride use in male rats doesn't strongly cause depression or anxiety due to adaptive stress hormone changes.
research Novel potential avenues for the therapy of Tourette syndrome: Cannabinoid- and steroid-based interventions
Cannabinoid and steroid-based drugs could be new treatments for Tourette syndrome, but more research is needed to confirm their effectiveness and safety.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research P50 Difficult to diagnose SLE manifestations associated with cardiac arrest, myocarditis, chronic pericarditis, polyneuropathy
Accurate diagnosis of SLE requires extensive testing due to its complex symptoms.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.