8 citations
,
August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
5 citations
,
August 2012 in “Experimental Dermatology” In this study, Ser516 phosphorylation of Artemis was found predominantly in the outer root sheath keratinocytes of hair follicles, suggesting a role in regulating human epidermal appendages.
July 2012 in “Medical Hypotheses” Artemis dysfunction might cause hair loss through telomere shortening.
39 citations
,
October 2010 in “Journal of The American Academy of Dermatology” This study reported that alopecia occurred in 2.5% of patients with mycosis fungoides or Sézary syndrome, with some cases resembling alopecia areata and others associated with specific skin lesions.
166 citations
,
March 2007 in “Hypertension” In this study, hyperandrogenemia in young women with polycystic ovary syndrome was linked to higher blood pressure, independent of factors like age, insulin resistance, obesity, or dyslipidemia.
21 citations
,
January 2003 in “Seminars in reproductive medicine” This review outlines the underlying pathophysiology and treatment options for the androgen excess and reproductive and metabolic manifestations of polycystic ovary syndrome, but reports no clinical results.
71 citations
,
January 2014 in “Journal of Proteome Research” In this study, distinct metabolic profiles were identified in women with PCOS, suggesting potential biomarkers for diagnosis based on changes in lipid and androgen metabolism.
58 citations
,
January 2013 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that sexual dimorphism in adipose tissue functions may be linked to androgen levels, as women with PCOS demonstrated a more masculine adipokine expression pattern.
6 citations
,
June 2017 in “Reproductive Biomedicine Online” This study found that women with polycystic ovary syndrome in China had elevated androgen levels compared to healthy controls, and suggests body weight management and SHBG and FAI testing are recommended for these women.
June 2023 in “Journal of Liaquat University of Medical & Health Sciences” This study observed that women with PCOS from Khyber Pakhtunkhwa had significantly higher serum PSA levels, which positively correlated with hirsutism, testosterone, and DHEAS levels compared to healthy controls.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” This case report describes a 4-year-old boy with Netherton syndrome, where trichoscopy importantly aided diagnosis and is recommended for all children with erythroderma.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
89 citations
,
October 1996 in “Dermatologic Clinics” This review discusses androgenetic alopecia and alopecia areata through a systems biology lens, emphasizing the role of multi-omics data integration to explore molecular mechanisms and potential therapeutic strategies, but offers no new clinical results.
57 citations
,
March 2011 in “Pediatric Dermatology” In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
4 citations
,
July 2021 in “Journal of Dermatological Treatment” This meta-analysis reported that finasteride 1 mg/day significantly increased hair count in male androgenetic alopecia compared to placebo, but highlighted persistent sexual side effects and associated depression risk.
4 citations
,
June 2019 in “Journal of Cosmetic Dermatology” In this study, serum omentin-1 levels were significantly higher in females with idiopathic hirsutism compared to those with PCOS and healthy controls.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
September 2015 in “University of Southern Denmark Research Portal (University of Southern Denmark)” This guideline provides a concise evidence-based overview of various aspects of polycystic ovary syndrome, including diagnosis and follow-up of secondary effects, but reports no new clinical results.
7 citations
,
July 2011 in “Survey of Ophthalmology” This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.
54 citations
,
December 2007 in “Best Practice & Research Clinical Endocrinology & Metabolism” This review discusses the potential of targeting glucocorticoid action as a treatment strategy for obesity and type-2 diabetes, highlighting promising animal study results but reports no new clinical findings.
3 citations
,
January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
September 2020 in “British Journal of Dermatology” This article provides issue information for the September 2020 edition of the British Journal of Dermatology and contains no new research findings.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
January 2023 in “Frontiers in bioscience” This study suggests that Artemis, particularly phosphorylated at serine 516, may have roles in hair follicle growth by influencing differentiation, proliferation, apoptosis, and cell cycling.