Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.

Uterine leiomyomata or fibroids are highly heritable, common, and benign tumors of the uterus with poorly understood etiology. Previous GWAS have reported 72 associated genes but included limited numbers of non-European individuals. Here, we identify 11 novel genes associated with fibroids across multi-ancestry and ancestry-stratified GWAS analyses.

Genomics-Informed Drug Repurposing Strategy Identifies Novel Therapeutic Targets for Metabolic Dysfunction-Associated Steatotic Liver Disease.

Identification of drug-repurposing targets with genetic and biological support is an economically and temporally efficient strategy for improving treatment of diseases. We employed a cross-disciplinary approach to identify potential treatments for metabolic dysfunction associated steatotic liver disease (MASLD) using humans as a model organism. We identified 212 putative causal genes associated with MASLD using data from a large multi-ancestry genetic association study, of which 158 (74.

Uterine fibroids show evidence of shared genetic architecture with blood pressure traits.

Uterine leiomyomata (fibroids, UFs) are common, benign tumors in females, having an estimated prevalence of up to 80%. They are fibrous masses growing within the myometrium leading to chronic symptoms like dysmenorrhea, abnormal uterine bleeding, anemia, severe pelvic pain, and infertility. Hypertension (HTN) is a common risk factor for UFs, though less prevalent in premenopausal individuals.

Effect of environmental water activity on microbial inactivation by intense pulsed light (IPL).

In this study, the effect of environmental a on microbial inactivation by intense pulsed light (IPL) was investigated. Three different microorganisms (Gram-positive bacteria, Gram-negative bacteria, and yeast) were used as test organisms. The effect of environmental a was assessed by irradiating each microbial suspension in sodium chloride solutions with different environmental a levels (0.

EVALUATING THE RELATIONSHIPS BETWEEN GENETIC ANCESTRY AND THE CLINICAL PHENOME.

There is a desire in research to move away from the concept of race as a clinical factor because it is a societal construct used as an imprecise proxy for geographic ancestry. In this study, we leverage the biobank from Vanderbilt University Medical Center, BioVU, to investigate relationships between genetic ancestry proportion and the clinical phenome. For all samples in BioVU, we calculated six ancestry proportions based on 1000 Genomes references: eastern African (EAFR), western African (WAFR), northern European (NEUR), southern European (SEUR), eastern Asian (EAS), and southern Asian (SAS).

A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature.

Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-organ systems. A tendency to form keloid is one of the common dermatologic manifestations. We describe a 23-year-old female presented with extensive keloids which developed spontaneously.

Hereditary Leiomyomatosis and Renal Cell Cancer: A Case Report of Pilar Leiomyomatosis with History of Kidney Cancer and Review of the Literature.

Pilar leiomyoma or piloleiomyoma is a benign neoplasm of the smooth muscle arising from the arrector pili muscle. It manifests as brown to red firm papulonodules with sites of predilection being the face, trunk, and extensor surfaces of the extremities. Histologically, the lesions exhibit ill-defined dermal tumors with interlacing fascicles of spindle cells.

Uterine leiomyomata and keloids fibrosis origins: a mini-review of fibroproliferative diseases.

Diseases such as uterine leiomyomata (fibroids and benign tumors of the uterus) and keloids (raised scars) may share common etiology. Fibroids and keloids can co-occur in individuals, and both are highly heritable, suggesting they may share common genetic risk factors. Fibroproliferative diseases are common and characterized by scarring and overgrowth of connective tissue, impacting multiple organ systems.

Basal cell carcinoma of the scalp shows distinct features from the face in Asians.

Basal cell carcinoma (BCC) affecting different sites has been reported to have different clinicopathological features. In previous studies, the scalp was commonly classified to the head and neck region. However, the scalp has distinct characteristics from those of other parts of the skin.

Clinical characteristics of pustulotic arthro-osteitis in Korea.

Pustulotic arthro-osteitis (PAO) has been studied primarily in Japan. However, there is a lack of research regarding its clinical features among large populations in other countries and it is often believed to be similar to psoriatic arthritis (PsA). Although the association between psoriasis (PsO) and palmoplantar pustulosis (PPP) is debatable, differences in the clinical characteristics between PsA and PAO might support the notion that PsO and PPP are distinct entities.

Myosin-VIIa is expressed in multiple isoforms and essential for tensioning the hair cell mechanotransduction complex.

Mutations in myosin-VIIa (MYO7A) cause Usher syndrome type 1, characterized by combined deafness and blindness. MYO7A is proposed to function as a motor that tensions the hair cell mechanotransduction (MET) complex, but conclusive evidence is lacking. Here we report that multiple MYO7A isoforms are expressed in the mouse cochlea.

Association between Dietary Mineral Intake and Chronic Kidney Disease: The Health Examinees (HEXA) Study.

Few studies have explored the association between mineral intake and chronic kidney disease (CKD). A cross-sectional analysis investigated the association between mineral intake (calcium, phosphorus, sodium, potassium, iron, and zinc) and CKD using the Health Examinee (HEXA) cohort of the Korean Genome and Epidemiologic Study (KoGES). For 159,711 participants, mineral intake was assessed by a food frequency questionnaire.

Rapid antibiotic susceptibility testing by tracking single cell growth in a microfluidic agarose channel system.

Sepsis is one of the major causes of death in the US, necessitating rapid treatment with proper antibiotics. Conventional systems for antibiotic susceptibility testing (AST) take far too long (16-24 h) for the timely treatment of sepsis. This is because they rely on measuring optical density, which relates to bacterial growth, to determine the minimal inhibitory concentrations (MICs) of relevant antibiotics.