January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This article reviews the polycystic ovary syndrome as a polyendocrine disease, detailing its etiology, pathogenesis, and research methods, but presents no new clinical results.
61 citations
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April 2007 in “Journal of Pharmaceutical Sciences” This study reported new crystallographic structures and polymorphs of finasteride, including several solvates with distinct X-ray diffraction patterns and thermally characterized properties.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
7 citations
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February 2014 in “Talanta” This study developed an advanced HPLC-ESI-ion trap MS(n) method for the structural identification of cyclosporin A analogs CyA and CyC and reported the first MS(n)-aided identification of a new CyA analog.
4 citations
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January 2011 This thesis explores the synthesis and antiproliferative properties of phenylpropanoid sucrose esters, noting the absence of synthetic methods for most of this compound class due to their structural complexity.
July 2021 in “International Journal of Homoeopathic Sciences” This article discusses the role of Psoric and Sycotic miasms in the development of Polycystic Ovarian Syndrome through neuro-hormonal pathways, and it emphasizes rubrics for treatment, reporting no new clinical findings.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
December 2025 in “Zenodo (CERN European Organization for Nuclear Research)” This policy brief reports that post-drug syndromes like Post-Finasteride Syndrome are largely overlooked in current pharmacovigilance systems, which prioritize acute drug reactions, resulting in inadequate recognition and management of persistent medication-induced conditions.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
1 citations
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October 2024 in “Journal of Clinical Immunology” This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study examines how conditions like PSSD, Long COVID, and ME/CFS form a "Post-Exposure Syndromes" family, initiated by transient exposures but persisting due to complex state-space dynamics, and suggests improving pharmacovigilance to better address and understand these persistent syndromes.
18 citations
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January 2011 in “International journal of trichology” This case report describes a 9-year-old girl with pseudonits and highlights frequent challenges in correctly diagnosing this condition.
18 citations
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September 2021 in “Colloids and surfaces. B, Biointerfaces” This study explored the development of polymeric nanoparticles for topical spironolactone delivery, finding that larger nanoparticles (180 nm) enhanced drug targeting to hair follicles significantly more than smaller ones or non-nanoparticle formulations, offering promise for safer acne and alopecia treatments.
January 2020 in “Asian Journal of Chemistry” This study demonstrated that FT-Raman spectroscopy is effective for identifying finasteride polymorphs in tablets and detecting the presence of alternative polymorphs down to about 15% concentration.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
October 2000 in “Pediatrics in Review” This report describes a case in which poststreptococcal reactive arthritis in a girl was effectively treated with naproxen, and highlights the importance of considering nongroup A Streptococcus in similar presentations.
June 2008 in “Society for the Study of Human Biology” This paper discusses the evolution of the clinical understanding of polycystic ovary syndrome, noting its association with anovulatory infertility and varied diagnostic criteria, but reports no new clinical findings.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
December 2025 in “Zenodo (CERN European Organization for Nuclear Research)” This policy brief highlights that post-drug syndromes remain under-recognized in pharmacovigilance, leading to inadequate risk assessments and patient care. It identifies systemic failures in current frameworks and recommends actions to improve long-term drug safety monitoring and education, affecting public health outcomes significantly.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
21 citations
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October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
8 citations
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January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
20 citations
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July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
4 citations
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September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.