research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Derivation and Validation of Systemic Lupus International Collaborating Clinics Classification Criteria for Systemic Lupus Erythematosus
The updated criteria improve the accuracy of diagnosing lupus.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research 201 Pain digital biomarker detecting by epidermal biopotential flexible sensor and AI-based system
A new pain-measuring system using sensors and AI can effectively detect pain in mice, which may help assess pain in humans and develop treatments.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research The Alopecia Areata Investigator Global Assessment scale: a measure for evaluating clinically meaningful success in clinical trials
The AA-IGA scale reliably measures treatment success in alopecia areata by considering both clinician and patient views.
research Risk of Autoimmune Skin Diseases Associated With Immune Checkpoint Inhibitors: A Pharmacovigilance Analysis Using the FAERS Database
Immune checkpoint inhibitors can increase the risk of autoimmune skin diseases, especially bullous pemphigoid.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Molecular Morbidity Score–Can MicroRNAs Assess the Burden of Disease?
MicroRNAs could help assess and manage multiple chronic diseases.
research Selective isomerization of α-pinene oxide to campholenic aldehyde by ionic liquid-supported indenyl-molybdenum(II)-bipyridine complexes
The process efficiently converts α-pinene oxide to campholenic aldehyde using a special catalyst, achieving high yields quickly.
research Where is the data? Delayed and chronic irAE surveillance and management after cessation of ICIs: expert insights from SITC on survivorship care and the need for long-term data
Long-term data and a team approach are needed to manage chronic side effects from cancer treatments.
research Determination of Minoxidil by Bleaching the Permanganate Carrier Solution in a Flow-Based Spectrophotometric System
The method quickly and accurately measures minoxidil in drugs, comparable to standard techniques.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus
The new criteria for classifying lupus are more accurate and comprehensive.
research Clinical Evaluation of the MIRA Technique in Cellulite Treatment: A Retrospective Case–Control Study
The MIRA technique improves cellulite treatment results and patient satisfaction.
research Scoring systems for pemphigus
The Pemphigus Disease Area Index and Autoimmune Bullous Skin Disorder Intensity Score are the best tools for assessing pemphigus severity.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A case of multifocal acquired demyelinating sensory and motor neuropathy with whole body alopecia
Immunological treatment improved both neuropathy and alopecia.
research P718 Observational real-world evidence on the efficacy and safety of Janus Kinase inhibitors (JAKi) in the treatment of moderate to severe Active Ulcerative Colitis (UC)
Janus Kinase inhibitors are effective and have an acceptable safety profile for treating moderate to severe Ulcerative Colitis.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research 875 Clinical, Histologic and Immunohistochemical Characterization of Mixed Epithelial and Stromal Tumor of the Seminal Vesicle: A Systematic Review and a Novel Case Report
MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research 307 Dermatologic toxicities associated with chronic gamma-secretase inhibitor treatment for desmoid tumor
Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
research Advancing mitochondrial therapeutics: Synthesis and pharmacological evaluation of pyrazole-based inhibitors targeting the mitochondrial pyruvate carrier
New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.