research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
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900-930 / 1000+ results research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research 1117 PX-12 inhibits NLRP3 inflammasome activation to treat psoriasis
PX-12 may help treat psoriasis by blocking inflammation and cell death.
research MULTIOMICS – A NEW EXCITING ERA OF RESEARCH
Multiomics is revolutionizing biology by enabling breakthroughs in research and disease diagnosis.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Systemic Lupus Erythematous and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research Sdr16c5 and Sdr16c6 control a dormant pathway at a bifurcation point between meibogenesis and sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Characterization and management of hypertrichosis induced by low-dose oral minoxidil in the treatment of hair loss
Low-dose oral minoxidil for hair loss can cause mild excessive hair growth, usually appearing within the first 3 months, but it can be managed by adjusting the dose or removing the unwanted hair, with most people not needing to stop the treatment.
research 5α-Reductase Inhibition Prevents the Luteal Phase Increase in Plasma Allopregnanolone Levels and Mitigates Symptoms in Women with Premenstrual Dysphoric Disorder
High-dose dutasteride reduces PMDD symptoms by stabilizing neurosteroid levels.
research Genetic targeting of lymphatic endothelial cells in mice: current strategies and future perspectives
Mouse models help target specific genes in lymphatic cells for research.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research The Complex connection between Vitiligo and Lupus: Exploring the Link
Vitiligo and lupus can occur together, requiring careful treatment to manage both conditions.
research A comparison of self-reported signs of facial aging among women in Australia vs. those in the United States, United Kingdom, and Canada
Women in Australia report different signs of facial aging compared to women in the US, UK, and Canada; men with Lichen planopilaris often have hormonal abnormalities and thyroid disease.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Linear lupus panniculitis of scalp: a case report from north-east India
A child with a rare scalp condition regrew hair after treatment.
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 Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease
The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
research Evaluation of the Effectiveness of Mesenchymal Stem Cells of the Placenta and Their Conditioned Medium in Local Radiation Injuries
Placental mesenchymal stem cells and their conditioned medium significantly improve healing in local radiation injuries.
research Drug reaction with eosinophilia and systemic symptoms and severe involvement of digestive tract: description of two cases
Severe digestive issues in DRESS need early endoscopy for better treatment.
research Exploring the Role of GLP ‐1 Agents in Managing Diabetic Foot Ulcers: A Narrative and Systematic Review
GLP-1 receptor agonists may help manage and prevent diabetic foot ulcers.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Matrix matching in quantitative bioanalysis by LC–MS/MS a dream or a reality?
Accurate quantitative bioanalysis using LC-MS/MS is challenging due to matrix effects, but using internal standards and new methods like in-sample calibration could improve results.
research Making sense of measures of clinical signs for atopic dermatitis
The electronic version of the Dermatology Life Quality Index is as effective as the paper version, with most patients preferring it.
research A rare primary subcutaneous panniculitis-like T-cell lymphoma with scalp involvement associated with lupus panniculitis
Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Preparation and Characterization of Minoxidil Loaded Nanostructured Lipid Carriers
Nanostructured lipid carriers improve minoxidil delivery for hair loss treatment.