October 2025 in “Journal of the Endocrine Society” In this case report, a 21-year-old female with familial partial lipodystrophy type 2 and hyperandrogenism was found to have a rare Sertoli cell tumor of the ovary, highlighting an unusual presentation where links between these two rare conditions are still unknown.
4 citations
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May 2023 in “Cells” In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
53 citations
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June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.
This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
5 citations
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March 2015 in “Women's Health” This article reviews the process for diagnosing polycystic ovary syndrome and suggests how it can be applied in clinical practice but reports no new results.
46 citations
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July 1988 in “Journal of The American Academy of Dermatology” This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.
October 2024 in “Irish Journal of Medical Science (1971 -)” Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
60 citations
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May 2015 in “Archives of dermatological research” This review discusses the role of peroxisome proliferator-activated receptors and their agonists in dermatology but reports no new clinical results.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
50 citations
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November 2010 in “Plastic and Reconstructive Surgery” This study suggests that Botox injections may increase hair count and reduce hair loss in men with androgenetic alopecia, potentially through increased blood flow and oxygen to the scalp.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
64 citations
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November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
April 2025 in “Indian Dermatology Online Journal” This study describes how avian-inspired imagery is used in dermatology to help clinicians and patients identify and communicate skin conditions, using familiar terms like "chicken skin" and "fried egg" to capture specific visual patterns and clinical features.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.
22 citations
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January 2018 in “Experimental Dermatology” This article reviews insights into the pathogenesis of primary cicatricial alopecias, such as lichen planopilaris, provided by emerging technologies, but it does not report new clinical results.
September 2009 in “Pediatric Dermatology” This meeting abstract volume for the Society for Pediatric Dermatology reports no new clinical results.
October 2024 in “Irish Journal of Medical Science (1971 -)” In this study, TENS of the T6 dermatome over a longer term was explored for its effects on weight, blood pressure, heart rate, and appetite-regulating hormones in obese subjects with moderate obstructive sleep apnea; however, results are not reported in the abstract.
December 2015 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study showed that regulation of adipose androgen generation via AKR1C3 may contribute to a cycle of hyperinsulinaemia and lipid accumulation in women with PCOS.
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.
3 citations
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January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
86 citations
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October 2017 in “Translational pediatrics” This review discusses how ophthalmic findings can reveal key endocrine disorders and reports no new clinical results, emphasizing the eye's role in diagnosing and managing systemic diseases like diabetes and Graves' ophthalmopathy.
99 citations
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July 2017 in “Clinical Reviews in Allergy & Immunology” This review noted that alopecia areata is an autoimmune disease impacting hair follicles and offered insights into its complex pathogenesis involving immune responses, while highlighting ongoing research into new treatments such as Janus kinase inhibitors and other immunomodulatory drugs.