Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.

This review discusses the use of supercritical carbon dioxide for extracting rice bran oil, noting its advantages over conventional methods for preserving nutrients and antioxidants, but provides no new experimental results.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

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.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.

This review discusses the biochemical and biological functions of histone demethylases and their potential involvement in human diseases, including cancer, but reports no new findings.

This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.

This study observed a significant increase in certain dermatologic conditions a month and two months after the onset of the COVID-19 pandemic in Turkey, which may suggest a link with asymptomatic COVID-19 infection.

This review outlines the main findings from clinical trials on teriflunomide's efficacy and safety for relapsing multiple sclerosis, noting clinical considerations and exploring its mechanisms based on various studies.

This review of teriflunomide for relapsing-remitting multiple sclerosis examines its clinical and safety outcomes, finding it significantly reduces relapse rates and disability progression while being generally well-tolerated.

This study found that teriflunomide, an oral medication taken once daily, significantly slowed disability progression in patients with relapsing multiple sclerosis, supported by positive results in two Phase III trials and supplemented by various analyses including long-term studies and patient-reported outcomes.

This review discusses the relationship between zinc deficiency and skin disorders, emphasizing zinc transporters' roles, but it reports no new clinical results; the authors highlight potential benefits of regulating zinc levels via transporters.

This review outlines strategies for preventing, identifying, and managing complications related to current MS therapies and reports no new clinical results, emphasizing the growing complexity in MS treatment regimens.

This review discusses the pharmacological profile of teriflunomide for treating relapsing multiple sclerosis, highlighting its safety and effectiveness in reducing relapses and slowing disability progression, though direct comparisons with other oral medications are lacking.

Skin conditions can signal heart issues, highlighting the need for integrated care.

This article examines anticytokine therapies for autoimmune diseases, highlighting the potential of anti-interferon-γ as a universal treatment for certain conditions and noting varying effectiveness of tumor necrosis factor-α inhibitors.

This review describes recent advances in regenerating functional 3D organs from stem cells, particularly ectodermal organs, but reports no new clinical findings and highlights future research directions for organ replacement therapy.

This study suggests that nail loss may be a new, reversible adverse event related to teriflunomide treatment, akin to its known effects on hair loss.

This review discusses how environmental factors like lifestyle, nutrition, and vitamin deficiencies may influence autoimmune diseases such as MS, SLE, and AA, highlighting associations with vitamin D levels and dietary interventions, but notes a lack of conclusive evidence for their roles in disease pathogenesis.

This review suggests that mesenchymal stem cells' therapeutic effects might be due to bioactive substances they release, rather than the cells themselves, highlighting the potential of the MSC secretome as a novel, cell-free therapeutic approach.

This review highlights that nanoemulsions, especially those with droplet sizes under 200 nm, show promise in pharmaceuticals and cosmetics by improving drug stability, bioavailability, and reducing side effects, with potential applications in CNS diseases, cancer treatments, and skincare products.

This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.

This study explored a computer simulation method for selecting emulsion compositions in dermatology, finding that the PS biocomplex can be effectively used as an emulsifier or co-emulsifier, which streamlines the development process and reduces experimental demands.

This study examined dermatological conditions in people with multiple sclerosis and found nevus and hair diseases to be the most common, indicating the importance of comprehensive skin examinations for early diagnosis and treatment.