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research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Rectal Bezoar: A Rare Cause of Intestinal Obstruction
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Baricitinib Demonstrates Rapid Action Within Just 2 Months of Treatment in Severe and Unresponsive Alopecia Areata: A Case Report
Baricitinib quickly improved severe alopecia areata, with almost total hair regrowth in three months.
research FATORES PRÉ-NATAIS, INTRÍNSECOS E EXTRÍNSECOS QUE PODEM CORROBORAR A GÊNESE DO TRANSTORNO DO ESPECTRO AUTISTA (TEA)
Pre-natal, internal, and external factors may contribute to the development of Autism Spectrum Disorder (ASD).
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Prevalence of Polycystic Ovarian Syndrome (PCOS) Like Symptoms in the General Practice of an Obstetrics and Gynecological Office on the Island of Tobago: A Retrospective Chart Analysis
19.7% of Afro-Caribbean women in Tobago have PCOS.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Alopecia areata‐like pattern: A new unifying concept
research Effectiveness and safety of baricitinib in severe alopecia areata: 48‐week results
Baricitinib effectively promotes hair regrowth and improves well-being in severe alopecia areata patients.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Worldwide Clinical and Real-World Exposure to Baricitinib
Baricitinib is widely used for several conditions, especially COVID-19, but its safety and effectiveness are still being evaluated.
research Policistisko olnīcu sindroms pusaudzēm – starppaaudžu, ģenētiskie, dzīves kvalitātes un negausīgas ēšanas aspekti. Promocijas darbs
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
research Scarring alopecia and scalp pruritus
The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
research Un caso de alopecia areata con repoblación paradójica espontánea con buena respuesta a propionato de clobetasol
An 8-year-old boy with hair loss had hair regrowth and responded well to clobetasol propionate treatment.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Treatment Challenges in Alopecia Areata: Insights From a Case of Baricitinib Therapy Failure
Baricitinib may not always prevent relapse in alopecia areata.
research Distribution of SALT scores by Therapeutic Tesponse in Patients with Severe Alopecia After 52 weeks of Baricitinib Therapy
Baricitinib therapy helped many patients with severe alopecia regrow hair after 52 weeks.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.