research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
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480-510 / 1000+ resultsresearch Referee report. For: Case Report: Tuberculosis lymphadenitis with systemic lupus erythematosus in a young woman: a case report [version 2; peer review: 1 approved, 1 approved with reservations, 1 not approved]
TB lymphadenitis can occur in people with weakened immune systems, like those with SLE.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Referee report. For: Case Report: Tuberculosis lymphadenitis with systemic lupus erythematosus in a young woman: a case report [version 2; peer review: 2 approved, 1 not approved]
People with weakened immune systems, like those with SLE, are at higher risk for TB.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般)
Some prostate cancers have gene changes that may affect treatment with certain drugs.
research Fluorouracil-Induced Reactive Follicular Squamous Cell Carcinoma
research Prevalensi Dermatitis Seboroik Di Poli Kulit Dan Kelamin Rsud Meuraxa Kota Banda Aceh Periode Tahun 2016-2019
Seborrheic dermatitis was most common in late adults and toddlers from 2016 to 2019.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Recognition and management of Staphylococcus aureus toxin‐mediated disease
Early detection and intensive treatment of diseases caused by Staphylococcus aureus toxins are crucial for reducing severe health effects.
research Updated Integrated Safety Analysis of Ritlecitinib up to ~5 Years in Adolescents With Alopecia Areata From the ALLEGRO Clinical Trials
Ritlecitinib is generally safe for adolescents with alopecia areata over 5 years.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Treatment and Long-Term Outcome of COVID-19 Disease in Children with Inborn Errors of Immunity (IEI): Does Hematopoietic Stem Cell Transplantation (HSCT) Have a Protective Effect?
Hematopoietic stem cell transplantation does not significantly affect COVID-19 severity in children with immune disorders.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research A concomitant diagnosis of COVID‐19 infection and systemic lupus erythematosus complicated by a macrophage activation syndrome: A new case report
COVID-19 may trigger systemic lupus erythematosus, requiring careful diagnosis and treatment.
research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro
Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
research rwSALT: a regrowth-weighted SALT score providing direct pixel-level measurement rather than visual estimation
rwSALT accurately measures hair regrowth in alopecia areata using scalp photos.
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 Koinfeksi Sifilis Sekunder, Condyloma Acuminata dan Human Immundeficiency Virus (HIV) pada Pria Homoseksual
A 22-year-old homosexual man was diagnosed with secondary syphilis, genital warts, and HIV, highlighting the high STI risk in men who have sex with men.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Rash morphology as a predictor of COVID‐19 severity: A systematic review of the cutaneous manifestations of COVID‐19
Certain types of rashes in COVID-19 patients may indicate more severe illness and higher risk of death.
research Extensive Ichthyosiform Sarcoidosis in a Patient With Juvenile Rheumatoid Arthritis
Systemic corticosteroids can cause unusual skin issues in people with juvenile rheumatoid arthritis.
research The probable destructive mechanisms behind COVID-19 on male reproduction system and fertility
COVID-19 may harm male fertility and damage the reproductive system.
research Systemic lupus erythematosus presenting with bullous lesions, cutaneous vasculitis and laryngeal ulcerations-a rare association
A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research NOVEL CORONAVIRUS (SARS-COV-2): MOLECULAR BIOLOGY, PATHOGENESIS, PATHOBIOLOGY AND ADVANCES IN TREATMENT OF COVID-19 PATIENTS– AN UPDATE
COVID-19 is caused by a virus from bats, and efforts focus on prevention and treatment research.
research Finasteride Induces Epigenetic Alteration of TMPRss2 Gene Expression: A Potential role in Severe Acute Respiratory Syndrome-Corona Virus-2 Inhibition
Finasteride may help reduce COVID-19 infection by altering a key gene.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.