Prevalence of Kaposi sarcoma in the United States: SEER cross-sectional study.

Primary Kaposi sarcoma (KS) is a rare cancer caused by human herpesvirus-8 that most often affects people with compromised immune systems. Since knowledge of the relationship between disease and sociodemographic factors contributes to the development of precision medicine, we investigated the prevalence of KS within the US population. Using SEER, we found that the Black population had the highest prevalence rate in 2018 compared to other racial groups.

Dermatological guide for primary care physicians: full body skin checks, skin cancer detection, and patient education on self-skin checks and sun protection.

Dermatological conditions and skin cancers are common health concerns that require early detection and intervention. Primary care physicians play a crucial role in recognizing these conditions and serving as the first line of defense against skin cancers. This guide provides a systematic approach to conducting thorough skin examinations and enhancing understanding of common presentations of precancerous and cancerous lesions.

Two years of a pilot virtual melanoma education program for adolescents in Texas: Assessing knowledge gaps and demographic disparities.

A formal melanoma primary prevention program was developed for a target audience of grade-school adolescents near Houston, Texas, focusing on skin cancer education and promoting long-term sun safety habits. Upon application of a multivariable regression model, adolescents of Black, non-Hispanic race, male gender, and lower grade levels were independent predictors of lower baseline skin cancer prevention knowledge. These findings reveal potential areas to prioritize when addressing knowledge gaps in the adolescent community.

Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.

Nonsyndromic hearing loss (NSHL) is a genetically diverse, highly heterogeneous condition characterised by deafness, and Gasdermin E (GSDME) variants have been identified as directly inducing autosomal dominant NSHL. While many NSHL cases associated with GSDME involve the skipping of exon 8, there is another, less understood pathogenic insertion variant specifically found in Chinese pedigrees that causes deafness, known as autosomal dominant 5 (DFNA5) hearing loss. In this study, we recruited a large Chinese pedigree, conducted whole-exome and Sanger sequencing to serve as a comprehensive clinical examination, and extracted genomic DNA samples for co-segregation analysis of the members.

Novel pathogenic variant in Iranian familial with inherited retinal dystrophies: genotype-phenotype correlation.

Inherited retinal dystrophies (IRDs) include a large chronic heterogeneity genetic disease. While many disease-causing pathogenic variants were involved in the progression of IRD, the Ceramide Kinase Like () gene variant in Iranian patients is not well characterized. In this study, a consanguineous Iranian family with three generations was recruited whom presented with the clinical diagnosis of autosomal recessive IRD.

Mental health trends among medical students.

Student mental health concerns can manifest in several forms. Medical students juggling a multitude of trials (i.e.

Demographics of Skin Cancer Knowledge Among Middle and High Schoolers in Texas.

Introduction: Adolescents, an age group that can reduce sun exposure early, may benefit from school-based skin cancer education programs. Literature regarding the demographics of melanoma knowledge is sparse.

Objectives: This study sought to evaluate melanoma knowledge among students in Texas viewing John Wayne Cancer Foundation Block the Blaze (JWCFBTB) presentations and identify group differences with regard to sociodemographic factors.

Telehealth reform post-public health emergency: crucial next steps.

As the pandemic made it unsafe for providers and patients to meet in person, the US government implemented key temporary telehealth waivers in March 2020 that expanded Medicare telehealth coverage dramatically. Some of the most significant changes included the removal of location restrictions so that patients and providers could engage in telehealth from their homes, full provider reimbursement for telehealth visits, coverage for more medical specialties and types of practitioners such as occupational and physical therapists, and the allowance of telehealth prescription of controlled substances. The waivers will end when the government removes the federal status of a public health emergency, which is expected to occur in 2023.

Skin, hair, and nail supplements advertised on Instagram.

Teens and young adults increasingly utilize social media for health information. Dermatologic supplements, advertised on social media, may be pharmacologically active and risk adverse effects. Instagram was searched, and 100 posts from March 2021 were evaluated for ingredients, health claims, account verification status, and endorsements.

Isotretinoin, Vitamin A Supplements, and Unintended Pregnancies in Post Roe v. Wade America.

Isotretinoin is a potent vitamin A derivative that is used to treat acne. However, despite its utility in dermatologic care, it is also highly teratogenic and can cause severe life-threatening fetal abnormalities in the first trimester of pregnancy. As a result, existing regulations are stringent in order to prevent accidental pregnancies in women taking isotretinoin.

Impact of Expression, Mutation Prognostics, and Small Molecule (CD, AD, TQ, and TQFL12) Inhibition on Pan-Cancer Tumors and Susceptibility to SARS-CoV-2.

As a cellular protease, transmembrane serine protease 2 (TMPRSS2) plays roles in various physiological and pathological processes, including cancer and viral entry, such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Herein, we conducted expression, mutation, and prognostic analyses for the gene in pan-cancers as well as in COVID-19-infected lung tissues. The results indicate that TMPRSS2 expression was highest in prostate cancer.

HSPA6 and its role in cancers and other diseases.

Heat Shock Protein Family A (Hsp70) Member 6 (HSPA6) (Online Mendelian Inheritance in Man: 140555) belongs to the HSP70 family and is a partially conserved inducible protein in mammals. The HSPA6 gene locates on the human chromosome 1q23.3 and encodes a protein containing two important structural domains: The N-terminal nucleotide-binding domain and the C-terminal substrate-binding domain.

AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model.

Purpose: The purpose of this study was to assess the therapeutic efficacy of rAAV8-hGRK1-Tlcd3b in a Tlcd3b-/- mouse model of retinal generation and validate TLCD3B's role as a ceramide synthase in vivo.

Methods: Using Tlcd3b-/- mice as an inherited retinal disease animal model, we performed subretinal injection of rAAV8-hGRK1-Tlcd3b and evaluated the efficacy of gene replacement therapy. Tlcd3b-/- mice were treated at two time points: postnatal day 21 (P21) and postnatal day 120 (P120) with various dosages.

A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Background: Familial exudative vitreoretinopathy (FEVR) is a group of inherited eye diseases characterized by premature arrest of retinal vessel development. The purpose of our study was to characterize the genetic causes and clinical features in eight Chinese families with FEVR using next-generation sequencing (NGS) technology.

Materials And Methods: Eight families with FEVR were included in genetic and clinical analyses.

COVID-19 disease and malignant cancers: The impact for the gene expression in susceptibility to SARS-CoV-2.

Furin is a proprotein convertase that activates different kinds of regulatory proteins, including SARS-CoV-2 spike protein which contains an additional furin-specific cleavage site. It is essential in predicting cancer patients' susceptibility to SARS-CoV-2 and the disease outcomes due to varying furin expressions in tumor tissues. In this study, we analyzed furin's expression, methylation, mutation rate, functional enrichment, survival rate and COVID-19 outcomes in normal and cancer tissues using online databases, and our IHC.

TQFL12, a novel synthetic derivative of TQ, inhibits triple-negative breast cancer metastasis and invasion through activating AMPK/ACC pathway.

Thymoquinone (TQ) has been reported as an anti-tumour drug widely studied in various tumours, and its mechanism and effect of which has become a focus of current research. However, previous studies from our laboratory and other groups found that TQ showed weak anti-tumour effects in many cancer cell lines and animal models. Therefore, it is necessary to modify and optimize the structure of TQ to obtain new chemical entities with high efficiency and low toxicity as candidates for development of new drugs in treating cancer.

Transcript isoforms of Reep6 have distinct functions in the retina.

Much of the complexity of the eukaryotic cell transcriptome is due to the alternative splicing of mRNA. However, knowledge on how transcriptome complexity is translated into functional complexity remains limited. For example, although different isoforms of a gene may show distinct temporal and spatial expression patterns, it is largely unknown whether these isoforms encode proteins with distinct functions matching their expression pattern.

Noncoding mutation in contributes to inherited retinal degenerations.

Purpose: Despite the extensive use of next-generation sequencing (NGS) technology to identify disease-causing genomic variations, a major gap in our understanding of Mendelian diseases is the unidentified molecular lesion in a significant portion of patients. For inherited retinal degenerations (IRDs), although currently close to 300 disease-associated genes have been identified, the mutations in approximately one-third of patients remain unknown. With mounting evidence that noncoding mutations might contribute significantly to disease burden, we aimed to systematically investigate the contributions of noncoding regions in the genome to IRDs.

Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China.

Y-chromosome short tandem repeat (Y-STR) markers have been widely used in forensic applications and usually show monoallelic or diallelic genotypic patterns at certain double-copied loci. In this study, we have found 13 samples among 703 males with multi-alleles at the DYS385ab locus, including one with five mutant alleles, nine with four, and three with three. The frequency of abnormal DYS385ab genotypes was 1.

Prostate adenocarcinoma and COVID-19: The possible impacts of TMPRSS2 expressions in susceptibility to SARS-CoV-2.

TMPRSS2 (OMIM: 602060) is a cellular protease involved in many physiological and pathological processes, and it facilitates entry of viruses such as SARS-CoV-2 into host cells. It is important to predict the prostate's susceptibility to SARS-CoV-2 infection in cancer patients and the disease outcome by assessing TMPRSS2 expression in cancer tissues. In this study, we conducted the expression profiles of the TMPRSS2 gene for COVID-19 in different normal tissues and PRAD (prostate adenocarcinoma) tumour tissues.

Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.

Background/aim: Gyrate atrophy of the choroid and retina (GACR) is an extremely rare autosomal recessive inherited disorder characterised by progressive vision loss. To identify the disease-causing gene in a consanguineous Chinese pedigree with GACR, we aimed to accurately diagnose patients with GACR through a combination of next-generation sequencing (NGS) genetic diagnosis, clinical imaging and amino acid metabolic analysis.

Methods: A consanguineous Chinese pedigree with GACR, including two patients, was recruited and a comprehensive ophthalmological evaluation was performed.