11 citations
,
August 2023 in “Regenerative Therapy” This study proposes a reporting guideline, CLINIC - STRA-SVF, to standardize and improve the design and reporting of clinical studies involving SVF, highlighting its safety and effectiveness despite the low level of current evidence.
January 2015 in “D-Scholarship@Pitt (University of Pittsburgh)” This dissertation investigated barriers to clinical translation of adipose-derived mesenchymal stem cell-based vascular grafts, highlighting issues with thrombosis in diabetic patients and proposing alternative cell sources to improve applicability.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
12 citations
,
November 2014 in “Journal of Cutaneous Medicine and Surgery” This report describes a case where oral valganciclovir treatment led to improved skin texture and hair regrowth in a patient with trichodysplasia spinulosa.
25 citations
,
March 2008 in “Surgical Neurology” This case study describes successful treatment of a left temporal scalp arteriovenous malformation through a multidisciplinary approach combining endovascular embolization and surgical excision, resulting in high patient satisfaction.
April 2025 in “Dermatology Practical & Conceptual” This study found that erosive pustular dermatosis of the scalp is frequently misdiagnosed as squamous cell carcinoma, highlighting the need for careful differentiation to avoid unnecessary treatments.
September 2023 in “Acta dermato-venereologica” This study found that pilonidal sinus disease is a common comorbidity with hidradenitis suppurativa and is linked with increased disease severity, suggesting it may serve as a sentinel event for identifying high-risk patients.
October 2022 in “Journal of Pediatric and Adolescent Gynecology” This case study observed that unilateral oophorectomy may improve severe hyperandrogenism in adolescents with PCOS, even when imaging and SVS do not indicate neoplasm.
February 2026 in “American Journal of Case Reports” This case report describes a 26-year-old woman with an uncommon presentation of varicella zoster virus interstitial keratitis misdiagnosed as corneal intraepithelial neoplasia; the correct identification using diagnostic tools such as AS-OCT prevented unnecessary surgical interventions and allowed for effective antiviral treatment.
30 citations
,
May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
1 citations
,
October 2025 in “Scientific Reports” This study reports that hedgehog pathway inhibitors, sonidegib and vismodegib, showed distinct adverse event patterns in real-world data, suggesting the need for further research to confirm these findings.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
17 citations
,
August 2003 in “Ultrasound in Obstetrics and Gynecology” This review discusses the complexities of diagnosing polycystic ovary syndrome and reports no new results; the authors suggest a thorough and careful diagnostic approach to avoid misdiagnosis and unnecessary tests.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
2 citations
,
July 2023 in “AACE Clinical Case Reports” In this case study, researchers identified a Leydig cell tumor in a 56-year-old postmenopausal woman with virilization symptoms by using ovarian vein sampling, as imaging was nonrevealing, and confirmed the tumor's location using testosterone ratios, which supported previous findings.
4 citations
,
September 2021 in “Hormone and Metabolic Research” This study found that VDR polymorphisms, particularly ApaI and FokI variants, are associated with hormonal and metabolic disturbances in women with PCOS, with notable variations across different ethnicities.
11 citations
,
March 2013 in “Journal of Ophthalmic Inflammation and Infection” This report describes two cases of VKH disease and SO where severe alopecia, likely due to incomplete treatment, improved following systemic steroid therapy.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.
2 citations
,
January 2019 in “Springer eBooks” This review discusses segmental vitiligo as part of the vitiligo clinical spectrum and highlights its role as a model for studying repigmentation, but reports no new clinical results.
28 citations
,
September 2014 in “Journal of Veterinary Internal Medicine” This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
71 citations
,
January 2011 in “Journal of cutaneous pathology” This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.
9 citations
,
May 2010 in “Gynecological Endocrinology” In this study, echocardiographic measures of cardiac function in women with polycystic ovary syndrome were found to be similar to those of healthy women.
December 2024 in “NeoReviews” This case study highlights that maternal autoimmune diseases like Sjogren syndrome may lead to congenital heart block in neonates, necessitating thorough evaluation of maternal medical history when such conditions present postnatally.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
20 citations
,
February 2003 in “Facial Plastic Surgery” This article reviews the classification and treatments of vascular anomalies, such as hemangiomas and vascular malformations, and reports no new clinical results; it emphasizes the importance of managing patient expectations due to treatment limitations.