research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
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research Disrupted Pancreatic Exocrine Differentiation and Malabsorption in Response to Chronic Elevated Systemic Glucocorticoid
High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
research Autoantigen Discovery in the Hair Loss Disorder, Alopecia Areata: Implication of Post-Translational Modifications
New protein changes may be involved in the immune attack on hair follicles in alopecia areata.
research Early-onset Androgenetic Alopecia in Korean Patients Showed No Significant Relationship with Medical Comorbidities
Early-onset hair loss in Koreans isn't linked to other health issues.
research Perampanel‐induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome
A girl with Pitt-Hopkins syndrome developed curly hair as a rare side effect from the epilepsy drug perampanel.
research Sweat Hypersensitivity‐Induced Urticaria and Sebaceous Adenitis in an American Saddlebred
Sweat hypersensitivity can cause severe skin issues in horses.
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Identification of tpo, tg, tshr and ana antibodies associated with thyroid disorders
Patients with thyroid disorders show different symptoms and antibody levels.
research PERFORMANCE AND SOME BLOOD SERUM CONSTIT-UENTS OF GROWING BUFFALO CALVES FED RATIONS CONTAINING CORN SILAGE
Corn silage alone is not a balanced diet for buffalo calves.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Silicon-Related Syndrome in Dialysis Patients
Silicon may affect calcium metabolism in dialysis patients, causing symptoms like skin eruptions and abnormal hair growth.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research GH-IGF-I axis in non-obese women with functional hyperandrogenism
The GH-IGF-I axis is likely involved in the hormonal imbalances seen in non-obese women with functional hyperandrogenism.
research Alopecia areata incognito: A rare cause of hair loss in children
Alopecia areata incognito in children can be effectively treated with triamcinolone acetonide and supplements, leading to full hair regrowth.
research Impaired Cardiometabolic Effects of Bromocriptine in Men With Early‐Onset Androgenic Alopecia
Men with early-onset hair loss have less cardiometabolic benefit from bromocriptine.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Efficacy of Clinical and Pathogenetic Treatment of Patients with Alopecia Areata Associated with Metabolic Syndrome
Combining medication for dyslipidemia and insulin resistance with basic therapy improves outcomes for alopecia areata with metabolic syndrome.
research Estrogen-Androgen Imbalance in Patients with Hirsutism and Amenorrhea
Low estrogen and high testosterone may cause excessive hair growth in women.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Autophagy and alopecia areata: is there a link?
Impaired autophagy may contribute to alopecia areata.
research Synthesis of a new amino acid derivative with long‐lasting hair shape control effects and elucidation of its mechanisms
A new amino acid derivative, ATS, improves hair texture and moisture, making it easier to straighten curly hair.
research Serum testosterone levels and clinical signs of hypogonadism in men with type 2 diabetes
Men with type 2 diabetes often have low testosterone and signs of hypogonadism, especially if they are overweight.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Histone deacetylase inhibitors promote neurosteroid‐mediated cell differentiation and enhance serotonin‐stimulated brain‐derived neurotrophic factor gene expression in rat C6 glioma cells
HDAC inhibitors help brain cells grow and improve brain function.
research 53274 Real-world experience of efficacy and safety of baricitinib in Korean patients with severe alopecia areata
Baricitinib 4 mg is effective and safe for treating severe alopecia areata.
research Familial hypertriglyceridemia in pregnancy
HIV-positive pregnant women are more likely to experience severe bleeding, and a pregnant woman with familial hypertriglyceridemia had a successful early delivery with special care.
research Histone deacetylase 1 in patients with alopecia areata and acne vulgaris: An epigenetic alteration
Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.