research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
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570-600 / 1000+ results research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Cystoid macular oedema in uveitis: An unsolved problem
Treating cystoid macular oedema in uveitis is difficult and risky.
research 15460 Perifollicular pink halo: A potential dermoscopic marker of inflammation in central centrifugal cicatricial alopecia
Certain immune markers may predict chemotherapy response in mesothelioma, and nivolumab is a tolerable and effective treatment for advanced non-small cell lung cancer.
research Covid induced telogen effluvium (CITE): An insight
COVID-19 may cause temporary hair loss due to direct damage to hair follicles, but it usually gets better on its own.
research Lichen planus and other cutaneous manifestations in chronic hepatitis C: pre- and post-interferon-based treatment prevalence vary in a cohort of patients from low hepatitis C virus endemic area
Skin problems like itching, dry skin, and hair loss are more common in hepatitis C patients after interferon treatment, but lichen planus is not linked to the infection.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research Not just thinning: A case of alopecia universalis after mild COVID-19
A woman lost all her hair after mild COVID-19, but it started to regrow after treatment with a specific medication.
research Alopecia universalis following interferon alfa-2b and ribavirin treatment for hepatitis C.
A woman lost all her body hair after hepatitis C treatment, but it started to grow back a year after stopping the treatment.
research Targeting of Skin Antigen-Presenting Cells
Transcutaneous vaccination using nanoparticles can enhance immune responses and reduce basal cell carcinomas.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Direct-to-consumer commercial virtual care: a scoping review
The impact of virtual care on health and privacy is unclear and may be biased.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Cicatricial alopecia secondary to neglected favus in a young Kashmiri female: An uncommon occurrence with clinical-dermoscopic correlation
Early diagnosis and treatment of favus can prevent permanent hair loss.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Stress-induced c-Jun-dependent Vitamin D Receptor (VDR) Activation Dissects the Non-classical VDR Pathway from the Classical VDR Activity
Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
research Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
research Tissue resident and follicular Treg cell differentiation is regulated by CRAC channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Mucocutaneous Manifestations in HIV-Infected Patients and Their Relationship to CD4 Lymphocyte Counts
Most HIV-positive patients had skin problems, and conditions like oral thrush and boils were linked to weaker immune systems.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research DISORDERS OF THE NAILS AND HAIR ASSOCIATED WITH HUMAN IMMUNODEFICIENCY VIRUS INFECTION
HIV can cause various nail and hair disorders, important for early diagnosis and treatment.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Successful management of multiple extrapulmonary complications associated withRhodococcus equipneumonia in a foal
A sick foal with Rhodococcus equi pneumonia was successfully treated for multiple complications with targeted therapy and careful monitoring.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Current Topics in Post-COVID Syndromes
Long COVID causes lasting health issues, needing ongoing research and better healthcare strategies.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
research Optimizing clinical monitoring and management guidelines for capivasertib in HR-positive/HER2-negative advanced breast cancer: expert opinion
Capivasertib improves survival in certain breast cancer cases but requires careful management of side effects.