research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
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150-180 / 1000+ results research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Complex Regional Pain Syndrome Type I : measurements and treatment
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Lichen Planus Activity and Damage Index (LiPADI)–Creation of the Questionnaire
LiPADI is a useful tool for monitoring the severity and treatment of lichen planus.
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 Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Comparison of Ischemia-modified Albumin and Exercise Stress Test in Stable Angina Pectoris
Ischemia-modified albumin is not effective for diagnosing stable angina compared to exercise stress tests.
research 69-Year-Old Man With Dysuria and Right Lower Abdominal Pain
The man was diagnosed with stage III multiple myeloma and treated to improve kidney function.
research Proliferation, but Not Apoptosis, Is Associated with Distinct β-Catenin Expression Patterns in Non-Small-Cell Lung Carcinomas
Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
research Perkembangan Aksis Pars Intermedia Hipofise – Melanosit Kulit Monyet Ekor Panjang (Macaca fascicularis).
The PI's development is closely linked to skin and hair pigmentation in macaques.
research 686 Evaluation of contamination and quantification of drug penetrations studies using Quantitative Mass Spectrometry Imaging
QMSI is a valuable method for studying drug penetration in skin tissues.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research 504 A single-center retrospective study evaluating the efficacy of intravenous methylprednisolone pulse therapy for 113 patients with alopecia areata
Intravenous methylprednisolone helped over half of alopecia areata patients regrow hair, but many relapsed.
research Outcome Measures in Cutaneous Autoimmune Disease: Dermatomyositis and Lupus Erythematosus
The document concludes that better tools are needed to measure skin disease severity in dermatomyositis and cutaneous lupus erythematosus, and introduces the DSSI and CLASI as reliable instruments.
research The Role of Ischemia-modified Albumin and Ischemia-modified Albumin to Albumin Ratios in Patients with Alopecia Areata
IMA and IMA/albumin levels don't predict alopecia areata severity.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Meibomian Gland Dysfunction: Intense Pulsed Light Therapy in Combination with Low-Level Light Therapy as Rescue Treatment
Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research MCPIP1 controls effects of myeloid cells on skin carcinogenesis and hair growth
MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
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 Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Context-dependent effect of sPLA2-IIA induced proliferation on murine hair follicle stem cells and human epithelial cancer
sPLA2-IIA increases growth in hair follicle stem cells and cancer cells, suggesting it could be targeted for hair growth and cancer treatment.
research CSF 5-HIAA as a predictor of treatment response in trichotillomania.
Higher CSF 5-HIAA levels may predict better response to serotonin re-uptake inhibitors in trichotillomania.
research Abstracts of 28th Year Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
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 44391 ICI Therapy Toxicities in Psoriasis
ICI therapy increases the risk of gastrointestinal and endocrine issues in psoriasis patients.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.