2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
25 citations
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May 2020 in “Aesthetic Surgery Journal” In this systematic review, tSVF-based therapy demonstrated favorable outcomes for various pathologies, including aged skin and osteoarthritis, with low incidence of adverse events, while highlighting the need for further research into optimal protocols and mechanisms of action.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
2 citations
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January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
157 citations
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June 2011 Dermatoscopy and videodermatoscopy are useful for diagnosing and monitoring various skin, hair, and nail conditions.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that varicella-zoster virus infection in skin cells may play a role in segmental vitiligo's progression and depigmentation.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
23 citations
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December 2004 in “Seminars in oncology” This study found that DVd therapy is at least as effective as VAD/VAd for treating multiple myeloma and causes fewer side effects and reduced hospital visits.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
March 2021 in “Indian Journal of Case Reports” This case report describes a young adult female with late-stage Vogt-Koyanagi-Harada disease featuring panuveitis, retinal detachment, hearing loss, alopecia, and vitiligo, who was successfully treated in a hospital.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
January 2024 in “Wiadomości Lekarskie” This review discusses the potential of augmented reality to advance vascular and endovascular surgery by improving 3D anatomical understanding and reducing patient risk, but notes that further research is needed to overcome current technological limitations.
March 2023 in “Institutional Repositories DataBase (IRDB)” 8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
6 citations
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July 1990 in “The Journal of Pediatrics” A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
July 2025 in “Pediatric Transplantation” In this case study, a rare viral infection called trichodysplasia spinulosa was diagnosed in a 10-year-old girl post-kidney transplant; she was treated successfully with reduced immunosuppression alongside leflunomide and valganciclovir, though the efficacy of valganciclovir remains uncertain.
July 2025 in “SVU-International Journal of Medical Sciences” This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.
November 2025 in “Animals” In this study, hair samples from dogs with chronic degenerative valve disease showed significantly higher concentrations of certain endocrine-disrupting chemicals compared to healthy dogs, suggesting a potential link that warrants further investigation.
11 citations
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June 2018 in “Sexual medicine reviews” This review evaluates existing preclinical and clinical studies on stromal vascular fraction for treating male sexual dysfunction, finding limited data and emphasizing the need for more research before conducting clinical trials.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
May 2018 in “Dermatologic Surgery” This overview details the Dermatologic Surgery journal's comprehensive focus on cosmetic and reconstructive skin surgery, but it presents no new research findings.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.