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The phenotypes associated with MED12 pathogenic variants are diverse. Male patients usually have missense variants, but the effects of base substitutions on mRNA splicing have not been investigated. Here, we report a Japanese brother with intellectual disability, characteristic facial appearance with blepharophimosis, cleft palate, Fallot tetralogy, vesicoureteral reflux, and deafness. A known missense pathogenic variant was detected in MED12, NM_005120.3:c.887G>A p.(Arg296Gln), and X-linked Ohdo syndrome was diagnosed in combination with their phenotype...

BACKGROUND: Community-acquired UTI is the most common bacterial infection managed in general medical practice that can lead to life-threatening outcomes. While UTIs are primarily caused by Escherichia coli colonizing the patient's gut, it is unclear whether the gut resident E. coli profiles can predict the person's risks for UTI and optimal antimicrobial treatments. Thus, we conducted an eighteen-month long community-based observational study of fecal E. coli colonization and UTI in women aged 50 years and above...

BACKGROUND: Robotic gastrectomy(RG)for gastric cancer(GC)has been covered by health insurance since 2018. In this study, we examined the results of RG for GC at our hospital during the initial period of its introduction. MATERIALS AND METHOD: From August 2022 to May 2023, we retrospectively examined the surgical outcomes and short-term postoperative outcomes of the first 9 patients who underwent RG for GC at our hospital. RESULTS: The median patient age was 77(67-82) years, gender was 4 males and 5 females, and distal gastrectomy was performed in all patients...

Successful breeding depends on feeding. The present study aims to evaluate the Carica papaya seed effect on the growth performance of rabbits. The zootechnical parameters studied are weight growth, average daily gain, Feed Conversion Ratio, and carcass characteristics of kits. The experiment was conducted on 48 rabbits, divided into 4 groups, for 6 weeks. Forty-eight rabbits were divided into four (04) groups of 3 repetitions of 4 rabbits. The animals were fed diets containing various levels of papaya seed powder at variable contents: 0% (group T0 ), 4% (group T1 ), 6% (group T2 ), and 8% (group T3 )...

BACKGROUND: It is well-known that socioeconomic status is associated with mental illness at both the individual and population levels, but there is a less clear understanding of whether socioeconomic development is related to poor mental health at the country level. AIMS: We aimed to investigate sociodemographic disparities in burden of mental disorders, substance use disorders and self-harm by age group. METHOD: Estimates of age-specific disability-adjusted life years (DALY) rates for mental disorders, substance use disorders and self-harm from 1990 to 2019 for 204 countries were obtained...

Although dysregulated cholesterol metabolism predisposes aging tissues to inflammation and a plethora of diseases, the underlying molecular mechanism remains poorly defined. Here, we show that metabolic and genotoxic stresses, convergently acting through liver X nuclear receptor, upregulate CD38 to promote lysosomal cholesterol efflux, leading to nicotinamide adenine dinucleotide (NAD+ ) depletion in macrophages. Cholesterol-mediated NAD+ depletion induces macrophage senescence, promoting key features of age-related macular degeneration (AMD), including subretinal lipid deposition and neurodegeneration...

Theories of semantic organization have historically prioritized investigation of concrete concepts pertaining to inanimate objects and natural kinds. As a result, accounts of the conceptual representation of emotions have almost exclusively focused on their juxtaposition with concrete concepts. The present study aims to fill this gap by deriving a large set of normative feature data for emotion concepts and assessing similarities and differences between the featural representation of emotion, nonemotion abstract, and concrete concepts...

This multicenter retrospective study assessed the clinical outcomes of endovascular therapy (EVT) using a drug-coated balloon (DCB) that was larger than the predilatation balloons for femoropopliteal artery lesions. We analyzed 1140 cases with symptomatic peripheral artery disease that underwent EVT with DCB for femoropopliteal lesions between 2017 and 2021. The primary endpoint was procedural failure, defined as a composite of deteriorated dissection and bailout stenting. The secondary endpoints included deteriorated dissection, bailout stenting, restenosis, and target lesion revascularization...

IMPORTANCE: The associations between blood pressure (BP) decreases induced by medication and functional outcomes in patients with successful endovascular thrombectomy remain uncertain. OBJECTIVE: To evaluate whether BP reductions induced by intravenous BP medications are associated with poor functional outcomes at 3 months. DESIGN, SETTING, AND PARTICIPANTS: This cohort study was a post hoc analysis of the Outcome in Patients Treated With Intra-Arterial Thrombectomy-Optimal Blood Pressure Control trial, a comparison of intensive and conventional BP management during the 24 hours after successful recanalization from June 18, 2020, to November 28, 2022...

Papillary thyroid carcinoma (PTC) is the most frequent form of thyroid cancer. PTC commonly presents with mutations of the serine/threonine kinase BRAF (BRAFV600E ), which drive ERK1/2 pathway activation to support growth and suppress apoptosis. PTC patients often undergo surgical resection; however, since the average age of PTC patients is under 50, adverse effects associated with prolonged maintenance therapy following total thyroidectomy are a concern. The development of mutant-selective BRAF inhibitors (BRAFi), like vemurafenib, has been efficacious in patients with metastatic melanoma, but the response rate is low for mutant BRAF PTC patients...

Japanese encephalitis (JE), caused by the Japanese encephalitis virus (JEV), is a highly threatening disease with no specific treatment. Fortunately, the development of vaccines has enabled effective defense against JE. However, re-emerging genotype V (GV) JEV poses a challenge as current vaccines are genotype III (GIII)-based and provide suboptimal protection. Given the isolation of GV JEVs from Malaysia, China, and the Republic of Korea, there is a concern about the potential for a broader outbreak. Under the hypothesis that a GV-based vaccine is necessary for effective defense against GV JEV, we developed a pentameric recombinant antigen using cholera toxin B as a scaffold and mucosal adjuvant, which was conjugated with the E protein domain III of GV by genetic fusion...

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease associated with systemic symptoms. Periodontitis, a prevalent dental disease, shares immune-mediated inflammatory characteristics with HS. This cohort study aims to evaluate the association between HS and periodontitis. Methods: Using the TriNetX research network, a global-federated database of electronic health records, we conducted a retrospective cohort study. People being diagnosed of HS were identified and propensity score matching was performed to identify proper control group, via balancing critical covariates Within the follow-up time of 1 year, 3 year and 5 years, hazard ratios were calculated to assess the risk of periodontitis in HS patients compared to controls...

Background: Tonsillectomy is a common surgery in the US, with possible postoperative complications. While small studies indicate postoperative depressive symptoms may occur, large-scale evidence is lacking on the tonsillectomy-depression link. Methods: We conducted a retrospective cohort study using the TriNetX US collaborative network, offering de-identified electronic health data from 59 collaborative healthcare organizations (HCOs) in the United States. In this study, people being diagnosed of chronic tonsillitis between January 2005 and December 2017 were enrolled...

BACKGROUND: Previous studies showed that a reduced plasma concentration of the amino acid glycine (Gly) is associated with intra-abdominal obesity, but the mechanism remains unclear. The study aimed to investigate whether lower Gly concentrations in older adults are independently associated with (visceral) adiposity, age, sex, presence of chronic disease, and glucose intolerance, and whether they are caused by a reduced whole-body production (WBP) and/or increased Gly disposal capacity...

No abstract text is available yet for this article.

Aerobic capacity plays a crucial role in football performance, making it a focal point in training processes. Small-sided games (SSGs) are widely used in football training, but the relationship between aerobic capacity and running performance during SSGs remains unclear. The aim of this study was to investigate possible correlations between maximum oxygen uptake (VO2 max) and running performance in youth football players in SSGs (4:4, 3:3, 2:2, 1:1) with three different pitch sizes per player (150, 100, 75 m2 /player)...

The objective of the current study was to explore the correlation between repeated sprint sets (RSS) ability and several physical attributes, including maximum sprint speed, maximal aerobic speed, maximal anaerobic speed, aerobic capacity, and explosive strength. Moreover, the aim was to assess the suitability of RSS as a comprehensive evaluation tool for physical qualities and to determine which physical field tests most accurately predict RSS in elite young male soccer players. A total of thirty-two young elite male soccer players (mean age 14...

OBJECTIVE: The Ecological Momentary Assessment (EMA) concept was the basis for developing a smartphone application for the real-time report of awake bruxism (AB) activities. The aim of this study was to assess the effects of the EMA with a randomised controlled trial designed to compare the frequency of AB reported in two separate single observation points between a group of students monitored over time with an EMA smartphone application and a non-EMA monitored group. METHODS: Sixty-four (N = 64) dental students (22...

PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed...

No abstract text is available yet for this article.