research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
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research Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for In Vivo CRISPR/Cas-Based Genome Editing
Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
research Avaliação dos efeitos adversos clínicos e alterações laboratoriais em pacientes com acne vulgar tratados com isotretinoína oral
Isotretinoin is safe and effective for acne, with common side effects like dry lips; serious side effects are rare.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Metformin protects against gentamicin-induced hair cell death in vitro but not ototoxicity in vivo
Metformin protects hair cells in lab tests but not in live animals.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Therapeutic effects of stem cells in different body systems, a novel method that is yet to gain trust: A comprehensive review
Stem cell therapy is promising for treating various health conditions, but more research is needed to understand its full potential and address challenges.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Men’s health in the United States: a national health paradox
Men in the U.S. have more health issues, higher death rates from various diseases, lower life expectancy, and are less likely to seek healthcare.
research Doping Control, Mandatory Arbitration, and Process Dangers For Accused Athletes in International Sports
Athletes face unfair legal challenges in doping cases and need better support and representation.
research Efficacy of Ginger Supplementation in Relieving Persistent Hypothyroid Symptoms in Patients with Controlled Primary Hypothyroidism: A Pilot Randomized, Double-Blind, Placebo-Controlled Clinical Trial
Ginger supplements helped reduce symptoms and improve metabolic health in hypothyroid patients.
research Melatonin protects cochlear hair cells from nicotine‐induced injury through inhibiting apoptosis, inflammation, oxidative stress and endoplasmic reticulum stress
Melatonin may protect ear cells from damage caused by nicotine.
research Comorbidities of pediatric vitiligo
Children with vitiligo may have other health issues like skin, thyroid, and mental health problems.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research Cryptoccoccal meningitis in post-covid 19 patient in the city of manaus: Case report
A post-COVID-19 patient in Manaus developed cryptococcal meningitis, highlighting the need for better health education and sanitation.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Epidermal cyst of temporal bone as a delayed complication of myringoplasty
An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.
research ODAC Chairs Reveal Challenges, High Drama in a Decade of Service
ODAC members faced intense pressure but prioritized scientific evidence in drug approval decisions.
research NEUROSENSORY ECOLOGY IN THE JEB
Different species have unique sensory adaptations to perceive their environments.
research Book Reviews
The document concludes that each reviewed medical book is useful for its specific area in pediatric care, especially the "Neonatal Formulary" for neonatal drug information.
research Risk of Safety Events in Vitiligo Patients: A Retrospective Real‐World Data Study in the US
Vitiligo patients have higher risks of autoimmune diseases, infections, and skin cancer.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Clinical Applications of Extracellular Vesicles: Promises and Pitfalls
Extracellular vesicles show promise for medical use but face challenges in standardization and safety.