18 citations
,
July 2019 in “Clinical Endocrinology” The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.
7 citations
,
June 1989 in “Steroids” In this study, the synthesis of C-4 and C-6 bridged haptens of 11 alpha-hydroxyprogesterone revealed an unexpected formation of a C-4 substituted product using a 6-bromo derivative, contrary to prior reports.
64 citations
,
October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
26 citations
,
September 1969 in “The American journal of medicine” This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.
2 citations
,
December 2024 in “Journal of Cosmetic Dermatology” In this study, the integration of AI-driven SNP profiling and epigenetic insights in cosmetic dermatology was highlighted as a key development toward personalized skincare, potentially improving treatment effectiveness and reducing side effects.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” TAK-279 effectively reduces psoriasis symptoms and is safe.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
In this study, hyperandrogenemia was observed in 78.2% of Greek women with polycystic ovary syndrome, with testosterone being the most commonly elevated androgen and acne the most frequent clinical feature.
In this study of women in Swabi, 26.04% were diagnosed with Polycystic Ovary Syndrome, with Hyperandrogenism and phenotype A being the most common presentations.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
This study reports on a new semantic annotation approach used to identify substances in MEDLINE abstracts responsible for adverse drug reactions, with promising performance shown by a prototype system.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
October 2025 in “The American Journal of Gastroenterology” This report describes a case of SAPHO syndrome likely triggered by escalated dosing of infliximab in a 21-year-old woman, highlighting the complex nature of infliximab-induced adverse events, and suggesting a potential autoimmune basis involving two distinct pathophysiologies for SAPHO syndrome.
9 citations
,
January 2007 in “Gynecological Endocrinology” This case report presents the first known instance of combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2 in a patient, exploring potential mechanisms for their interrelation.
25 citations
,
April 2007 in “Journal of The American Academy of Dermatology” This article introduces the term "anisotrichosis" to describe the significant variation in hair shaft diameters observed in pattern alopecia, drawing a parallel to anisocytosis seen in blood smears, but reports no new research findings.
This study reports that a novel series of compounds can potently and selectively inhibit glycogen synthase kinase-3, which activates glycogen synthase in insulin receptor-expressing cells and primary rat hepatocytes.
47 citations
,
July 2014 in “European Journal of Pharmaceutics and Biopharmaceutics” This study concluded that polymeric nanoparticles effectively targeted hair follicles for drug delivery, but the organogel formulation did not enhance their penetration into the hair shaft.
January 2024 in “Wiadomości Lekarskie” This source analyzes linguistic difficulties faced by speakers of East Slavic languages learning Polish, emphasizing challenges in pronunciation, vocabulary, and grammar. It suggests that tailored educational materials comparing linguistic nuances can improve learning outcomes by highlighting important differences between the languages.
This study identified seven novel CYP17A1 inhibitor scaffolds as potential leads for treating polycystic ovary syndrome through an in silico approach, demonstrating favorable interactions, drug-like properties, and predicted bioactivities warranting further experimental validation.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
July 2023 in “Clinical, cosmetic and investigational dermatology” This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.
9 citations
,
February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
18 citations
,
February 2025 in “Macromolecular Rapid Communications” In this review, researchers explored thermo-responsive polymers and their applications in nanomedicine, highlighting their role in targeted drug delivery, gene therapy, and imaging, enabled by their temperature-sensitive phase transitions to ensure localized therapeutic action and minimize damage to healthy tissues.
January 2026 in “International Journal of Gynaecology Sciences” This review discusses the proposal to rename Polycystic Ovary Syndrome as PolyMetabolic Ovarian Syndrome and reports no new clinical results, highlighting diagnostic misconceptions and the importance of personalized management.
June 2008 in “CRC Press eBooks” PCOS may have evolved as an advantage in past environments with food scarcity.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
November 2012 in “Journal of Clinical Pathology”