research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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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.
research Tofacitinib Treatment in Children With Rheumatic Diseases: Single-Center Experience
Tofacitinib is a promising treatment for children with rheumatic diseases.
research Valproic Acid Is an Effective Anti-Emetic Treatment in Alexander Disease
Valproic acid is a more effective treatment for vomiting in Alexander disease than other medications, with few side effects.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Janus Kinase Inhibitors for Alopecia Areata
JAK inhibitors offer new hope for treating severe alopecia areata.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Both gene and non-gene areas of DNA evolved to make some mammals hairless.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Editor's Evaluation: Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
research Change in Dermatology Practice During Crisis and Normalization Periods After the COVID-19 Pandemic and Potential Problems Awaiting Us
The COVID-19 pandemic led to fewer dermatology patients, more stress-related skin conditions during the crisis, and a rise in contact dermatitis after, with ongoing concerns for public health and treatment delays.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research The Cellular Basis of Mechanosensory Merkel-Cell Innervation During Development
BMP signaling is essential for the development of touch domes.
research Melampus and the Cure of Proetus' Daughters
Melampus might have cured Proetus' daughters, who possibly had ergotism or Cushing's syndrome, using the herb Helleborus niger, but a mix of factors could have caused their symptoms.
research Alternative Synthesis of the Anti-Baldness Compound RU58841
A new, less toxic and more efficient method to create the anti-baldness compound RU58841 was developed in 2014.
research Foliar and Root Applications of Vegetal-Derived Protein Hydrolysates Differentially Enhance the Yield and Qualitative Attributes of Two Lettuce Cultivars Grown in Floating System
Protein hydrolysates applied to roots or leaves differently improved lettuce yield and quality, with the best results seen in specific combined treatments for each type.
research Keratosis Follicularis Spinulosa Decalvans in a Female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Skin Problems in the Long-Distance Runner 2500 Years After the Battle of Marathon
Runners often face skin problems like blisters and infections, and both prevention and early treatment are important.
research Non-Rhizobial Nodule Endophytes Improve Nodulation, Change Root Exudation Pattern and Promote the Growth of Lentil for Prospective Application in Fallow Soil
Certain bacteria can boost lentil growth and improve soil used for farming.
research Effect of Value Addition and Product Diversification on Herbal Product Promotion
Adding value and variety to herbal products helps promote them and can make India a leading exporter.
research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
research Foxp3 Post-Translational Modifications and Treg Suppressive Activity
Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Current Status of Genus Impatiens: Bioactive Compounds and Natural Pigments with Health Benefits
Impatiens plants have health-promoting compounds and are used for natural food coloring, but more research is needed to understand their full benefits.
research Forensic and Legal Medicine
Forensic medicine is crucial for justice and needs continuous innovation and technology integration.
research Illness and Femininity in Hilary Mantel’s Giving Up the Ghost
The document concludes that Hilary Mantel's memoir shows how childhood experiences affect adult health, criticizing modern medicine for ignoring the mental aspects of physical illness.
research Comparative Efficacy and Safety of JAK Inhibitors in the Treatment of Moderate-to-Severe Alopecia Areata: A Systematic Review and Network Meta-Analysis
Brepocitinib 30mg is most effective for moderate-to-severe alopecia areata, but ritlecitinib 50mg may offer a better balance of safety and effectiveness.
research Early Skin Biopsy Is Helpful for the Diagnosis and Management of Neonatal and Infantile Erythrodermas
Early skin biopsy helps diagnose and manage severe skin conditions in babies.