research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
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research Cardiac morphologic alterations in acute minoxidil cardiotoxicity in miniature swine
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research The New Classification Criteria of Systemic Lupus Erythematosus
The 2012 SLICC criteria provide an updated method for classifying Systemic Lupus Erythematosus.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research A quantitative technique to analyze and evaluate microstructures of skin hair follicles based on mueller matrix polarimetry
The technique accurately identifies and evaluates hair follicle structures in skin.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research 44391 ICI Therapy Toxicities in Psoriasis
ICI therapy increases the risk of gastrointestinal and endocrine issues in psoriasis patients.
research High‐dose mizoribine treatment for adolescents with systemic lupus erythematosus
High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.
research A Randomized Placebo-Controlled Multicentre Study to Evaluate the Safety and Efficacy of Finasteride for Male Chronic Pelvic Pain Syndrome (Category IIIA Chronic Nonbacterial Prostatitis)
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Correction: Coliform Units
In 1995, international medical graduates did better than U.S. graduates on a medical exam.
research LB1681 Risk of merkel cell carcinoma progression after treatment discontinuation in patients with an objective response to anti-PD-(L)1 immunotherapy
Longer immunotherapy treatment may improve outcomes for Merkel cell carcinoma patients.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Multiphoton microscopic imaging of in vivo hair mouse skin based on two‐photon excited fluorescence and second harmonic generation
Multiphoton microscopy effectively images mouse skin layers and structures.
research A functional role of S100A4/non-muscle myosin IIA axis for pro-tumorigenic vascular functions in glioblastoma
High S100A4 levels worsen glioblastoma by promoting blood vessel growth.
research Intravesical instillation of platelet-rich plasma for treatment of interstitial cystitis/bladder pain syndrome: A pilot study
Platelet-rich plasma shows promise in reducing pain for bladder pain syndrome.
research Identical p53 gene mutation in malignant proliferating trichilemmal tumour of the scalp and small cell carcinoma of the common bile duct: the necessity for therapeutic caution?
Identical p53 gene mutations in different cancers suggest the need for careful treatment.
research A Thallium-Based Screening Procedure to Identify Molecules That Modulate the Activity of Ca2+-Activated Monovalent Cation-Selective Channels
The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
research Ivarmacitinib for the treatment of adults with severe alopecia areata: Results from a phase 3 trial
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Intraoperative floppy iris syndrome
Certain eye surgery complications can be managed effectively, especially in patients who have used specific prostate medications.
research Correlation between Traditional Chinese Medicine Syndromes and Type 2 Myocardial Infarction in Critically Ill Patients with Pulmonary Disease
Patients with deficiency syndrome, especially qi deficiency, have a higher risk of type 2 heart attacks.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research A Quantitative Measurement Method for Nuclear-Pleomorphism Scoring in Breast Cancer
A new method accurately measures cell changes in breast cancer.