research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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750-780 / 1000+ results research Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia
Inhaled substances in e-cigarettes can cause hormone imbalances similar to congenital adrenal hyperplasia.
research The Hidden Epidemic of Topical Steroid Use: Prevalence and Impact Among Jordan’s General Population
Many people in Jordan misuse topical steroids without proper knowledge, highlighting the need for better education and regulation.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Carbon dots with tissue engineering and regenerative medicine applications
Carbon dots show promise for tissue repair and growth but need more research to solve current challenges.
research Interstitial pneumonia with autoimmune features: challenges and controversies
The document concludes that diagnosing and treating Interstitial Pneumonia with Autoimmune Features (IPAF) is challenging, needs a multidisciplinary approach, and further research for better diagnostic criteria and treatments. It also emphasizes regular checks for Connective Tissue Disease symptoms in all patients with Interstitial Lung Disease.
research Disappearance of a virilizing adrenal tumor following therapy with cyproterone acetate
A woman's adrenal tumor disappeared after treatment with cyproterone acetate.
research Toxicity of Chlorinated Aromatic Compounds in Animals and Humans: In Vitro Approaches to Toxic Mechanisms and Risk Assessment
Chlorinated compounds like TCDD can cause skin issues and chloracne by affecting cell behavior.
research Chemotherapy-Induced Alopecia Beyond Cytotoxicity: Hair Follicle Immune Privilege Collapse and JAK-STAT Signaling
Chemotherapy-induced hair loss may be linked to immune system changes, and certain treatments could help but need careful use.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Cedrol mitigates hepatic lipid accumulation and adipocyte hypertrophy induced by corticosteroids through the inhibition of glucocorticoid receptor activity
Cedrol may help reduce liver fat and fat cell growth caused by corticosteroids.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research Effectiveness and safety of physician–pharmacist collaborative care for rheumatoid arthritis patients: The Changi General Hospital’s experience
Collaborative care between physicians and pharmacists improved medication management for rheumatoid arthritis without raising costs.
research Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study (Preprint)
The study aims to create a model to improve personalized and preventive health care.
research Editorial
research Role of Csdc2 in Regulating Secondary Hair Follicle Growth in Cashmere Goats
Csdc2 helps hair growth in cashmere goats by regulating specific genes.
research High-risk cutaneous squamous cell carcinoma in a Japanese allogeneic bone marrow transplant recipient on long-term voriconazole
A Japanese bone marrow transplant patient developed a rare skin cancer possibly linked to long-term use of the medication voriconazole.
research Cyproterone acetate and risk of meningioma: a nationwide cohort study
Taking high doses of Cyproterone acetate significantly increases the risk of meningioma in females.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Comprehensive transition of care for polycystic ovary syndrome from adolescence to adulthood
research Immediate and Delayed Complications of Dexamethasone Cyclophosphamide Pulse (DCP) Therapy
DCP therapy causes side effects like weakness, flushing, headaches, and taste changes, but less frequently causes hypertension and diabetes.
research BH16 Central centrifugal cicatricial alopecia and fibroproliferative disorders: exploring the association with uterine leiomyomas
Black women with CCCA are more likely to have uterine fibroids.
research Interactive analysis of single-cell trajectories in 3D space with Cell Journey
Cell Journey is a tool for better 3D visualization of cell changes over time.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research 461: THE PROFIBROGENIC ROLE OF NEUTROPHIL EXTRACELLULAR TRAPS IN STENOTIC CROHN'S DISEASE: A NEW ANTIFIBROTIC TARGET?
Targeting NETs may help reduce fibrosis in Crohn's disease.
research Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients
CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.