Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a rare instance of Vogt-Koyanagi-Harada disease in a 21-year-old Asian woman, highlighting unusual oral manifestations such as tooth discoloration and misalignment, which expand the known clinical spectrum of the disorder.

This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.

This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.

This study used micro-CT to visualize preputial vessel distribution in a congenital hypospadias rat model, revealing that vessels at the preputial junction with good circulation were well-suited for vascular pedicle flaps in surgery.

This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This overview outlines the Dermatologic Surgery journal's comprehensive focus on cosmetic and reconstructive procedures, but it does not present any new research findings.

This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

This address discusses the evolution of surgical training, emphasizing the need for Vascular Surgery to have an independent board to adjust training requirements and improve specialty education without reporting new research findings.

In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

This case study highlights the importance of a multidisciplinary approach in diagnosing and managing Vogt-Koyanagi-Harada syndrome, particularly emphasizing the role dermatologists can play in identifying early signs such as hair loss.

This report from SRUC VS highlighted a suspected case of Schmallenberg virus infection in a calf born to an imported heifer, noting consistent clinical signs and seroconversion in the dam.

This study found that the implementation of the SAVe teledermatology model increased access to dermatologic care during COVID-19, reducing referral wait times significantly compared to in-person visits.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

In this study, VVF was found to be a highly variable and unreliable measure of void space in granular scaffolds, sensitive to various input parameters and less predictive than particle count.

This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.

In this case report, researchers document the first known instance of a dog developing both uveodermatological syndrome and alopecia areata concurrently, similar to occurrences in human patients, and provide a detailed overview of the clinical presentation, diagnosis, treatment, and follow-up.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This review covers the potential of SVF and ADSC therapies in regenerative medicine and highlights the challenges of regulation and efficacy, without reporting new clinical results.

Psoriasis can cause rare vulval scarring.

This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.

This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.

This study developed simulated skull models and a method to assess programming tool movements, selecting three models as most clinically relevant for hydrocephalus shunt valve programming.

This meta-analysis suggests that certain VEGF gene polymorphisms may be linked to polycystic ovary syndrome risk, potentially serving as early detection biomarkers.

This study found that micro-CT imaging can effectively identify vascular structures in rat models of congenital hypospadias, providing anatomical insights for selecting preputial vessel flaps in surgical procedures.