High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

Patient centered medication treatment for opioid use disorder in rural Vermont: a qualitative study.

Background: Opioid-related fatal overdoses are occurring at historically high levels and increasing each year. Accessible social and financial support are imperative to the initiation and success of treatment for Opioid Use Disorder (OUD). Medications for Opioid Use Disorder (MOUD) offer effective treatment but there are many more people with untreated OUD than receiving evidence-based medication.

Discovery of robust and highly specific microbiome signatures of non-alcoholic fatty liver disease.

Background: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) with a global prevalence of 30% is multifactorial and the involvement of gut bacteria has been recently proposed. However, finding robust bacterial signatures of NAFLD has been a great challenge, mainly due to its co-occurrence with other metabolic diseases.

Results: Here, we collected public metagenomic data and integrated the taxonomy profiles with in silico generated community metabolic outputs, and detailed clinical data, of 1206 Chinese subjects w/wo metabolic diseases, including NAFLD (obese and lean), obesity, T2D, hypertension, and atherosclerosis.

Impact of worklist selection on point-of-care ultrasound workflow - a quality improvement project.

Background: Research demonstrates that Point-of-care ultrasound (POCUS) improves clinical outcomes for patients. Improving clinician satisfaction with POCUS should promote utilization into everyday practice, leading to improved clinical outcomes. Despite this benefit, there are still barriers to use including POCUS workflow.

Creatinine production rate is an integrative indicator to monitor muscle status in critically ill patients.

Background: Both quantitative and qualitative aspects of muscle status significantly impact clinical outcomes in critically ill patients. Comprehensive monitoring of baseline muscle status and its changes is crucial for risk stratification and management optimization. However, repeatable and accessible indicators are lacking.

Construction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function.

Background: Advanced gastric cancer (GC) exhibits a high recurrence rate and a dismal prognosis. Myocyte enhancer factor 2c (MEF2C) was found to contribute to the development of various types of cancer. Therefore, our aim is to develop a prognostic model that predicts the prognosis of GC patients and initially explore the role of MEF2C in immunotherapy for GC.

Metabolic and inflammatory status in prepuberty and early adulthood for individuals with a history of extrauterine growth restriction: a cohort study.

Background: Perinatal growth and nutrition have been shown to be determinants in the programming of different tissues, such as adipose tissue, predisposing individuals to metabolic alterations later in life. Previous studies have documented an increased risk of metabolic disturbances and low-grade inflammation in prepubertal children with a history of extrauterine growth restriction (EUGR). The aim of this study was to evaluate possible alterations resulting from impaired growth during early childhood and their impact on young adult health.

TRPV4 modulates inflammatory responses and apoptosis in enteric glial cells triggered by Clostridioides difficile toxins A and B.

Clostridioides difficile, a spore-forming anaerobic bacterium, is the primary cause of hospital antibiotic-associated diarrhea. Key virulence factors, toxins A (TcdA) and B (TcdB), significantly contribute to C. difficile infection (CDI).

Association between traffic-related air pollution and risk of outpatient visits for dry eye disease in a megacity along the subtropical coast in South China.

Background: Traffic-related air pollution especially in highly socioeconomically developed megacity is usually considered as a severe problem leading to inevitable adverse health outcomes. This study aimed to investigate the associations between traffic-related air pollutants with risk of dry eye disease (DED) outpatient visits in a megacity (Guangzhou) along the subtropical coast in South China.

Methods: Daily data on DED outpatient visits and environmental variables from 1 January 2014 to 31 December 2020 in Guangzhou were obtained.

Regulatory role of lnc-MAP3K13-3:1 on miR-6894-3p and SHROOM2 in modulating cellular dynamics in hepatocellular carcinoma.

Background: Hepatocellular carcinoma (HCC) is a prevalent primary liver malignancy and a leading cause of cancer-related mortality worldwide. Despite advancements in therapeutic strategies, the 5-year survival rate for individuals undergoing curative resection remains between 10% and 15%. Consequently, identifying molecular targets that specifically inhibit the proliferation and metastasis of HCC cells is critical for improving treatment outcomes.

Physicians' and patients' perceived risks of chronic pain medication and co-medications in Quebec, Canada: a cross-sectional study.

Background: The risks associated with medications and co-medications for chronic pain (CP) can influence a physician's choice of drugs and dosages, as well as a patient's adherence to the medication. High-quality care requires patients to participate in medication decisions. This study aimed to compare perceived risks of medications and co-medications between physicians and persons living with CP.

Genome-wide association study identifies candidate genes affecting body conformation traits of Zhongwei goat.

Background: Identifying markers or genes crucial for growth traits in Zhongwei goats is pivotal for breeding. Pinpointing genetic factors linked to body size gain enhances breeding efficiency and economic value. In this study, we used the MGISEQ-T7 platform to re-sequence 240 Zhongwei goats (133 male; 107 female) belonging to 5 metrics of growth traits at different growth stages (40 days and 6 months, here in after referred to as 40d and 6 m), namely, Body Weight (BW), Body Height (BH), Body Length (BL), Chest Circumference (CC), Tube Circumference (TC) were examined.

Dynamic X-ray Microtomography vs. Laser-Doppler Vibrometry: A Comparative Study.

Purpose: There are challenges in understanding the biomechanics of the human middle ear, and established methods for studying this system show significant limitations. In this study, we evaluate a novel dynamic imaging technique based on synchrotron X-ray microtomography designed to assess the biomechanical properties of the human middle ear by comparing it to laser-Doppler vibrometry (LDV).

Methods: We examined three fresh-frozen temporal bones (TB), two donated by white males and one by a Black female, using dynamic synchrotron-based X-ray microtomography for 256 and 512 Hz, stimulated at 110 dB and 120 dB sound pressure level (SPL).

Obstetric Sonar, Media Archaeology, Feminist Critique.

The snub-nosed, reclining, and serene image of the fetus is commonplace in cultural representations and analyses of obstetric ultrasound. Yet following the provocation of various feminist scholars, taking the fetal sonogram as the automatic object of concern vis-à-vis ultrasound cedes ground to anti-abortionists, who deploy fetal images to argue that life begins at conception and that the unborn are rights bearing subjects who must be protected. How might feminists escape this analytical trap, where discussions of ultrasonics must always be engaged in the act of debunking? This article orients away from the problem of fetal representation by employing a method which may appear to be wildly unsuitable: media archaeology.

Governance and resilience as entry points for transforming food systems in the countdown to 2030.

Due to complex interactions, changes in any one area of food systems are likely to impact-and possibly depend on-changes in other areas. Here we present the first annual monitoring update of the indicator framework proposed by the Food Systems Countdown Initiative, with new qualitative analysis elucidating interactions across indicators. Since 2000, we find that 20 of 42 indicators with time series have been trending in a desirable direction, indicating modest positive change.

The association of perceived health status and presence of chronic conditions with physical activity in childhood cancer survivors.

Purpose: Childhood cancer survivors (CCS) are at risk for therapy-related late effects. Physical activity (PA) can minimize some late effects risk, but rates of PA are low in CCS. We aimed to determine how perception of survivor health status and presence of chronic conditions are associated with patient- or proxy-reported PA.

Effect of hearing experience on preschool-aged children's eye gaze to a talker during spoken language processing.

Speechreading-gathering speech information from talkers' faces-supports speech perception when speech acoustics are degraded. Benefitting from speechreading, however, requires listeners to visually fixate talkers during face-to-face interactions. The purpose of this study is to test the hypothesis that preschool-aged children allocate their eye gaze to a talker when speech acoustics are degraded.

Excess Weight Loss at 6 Months Following Laparoscopic Sleeve Gastrectomy Correlates with the Remission of Hyperuricemia.

Background: Hyperuricemia is a metabolic disorder associated with obesity. Many studies have reported the effect of bariatric surgery on the decrease of serum uric acid level in patients with hyperuricemia. However, since the update of diagnostic criteria of hyperuricemia, the correlation between preoperative body mass index, postoperative weight changes, and the remission of hyperuricemia in patients with obesity after sleeve gastrectomy requires consensus.

Forecasting Mortality Associated Emergency Department Crowding with LightGBM and Time Series Data.

Emergency department (ED) crowding is a global public health issue that has been repeatedly associated with increased mortality. Predicting future service demand would enable preventative measures aiming to eliminate crowding along with its detrimental effects. Recent findings in our ED indicate that occupancy ratios exceeding 90% are associated with increased 10-day mortality.

In vivo base editing extends lifespan of a humanized mouse model of prion disease.

Prion disease is a fatal neurodegenerative disease caused by the misfolding of prion protein (PrP) encoded by the PRNP gene. While there is currently no cure for the disease, depleting PrP in the brain is an established strategy to prevent or stall templated misfolding of PrP. Here we developed in vivo cytosine and adenine base strategies delivered by adeno-associated viruses to permanently modify the PRNP locus to achieve PrP knockdown in the mouse brain.

Prognostic significance of the mEPE score in intermediate-risk prostate cancer patients undergoing ultrahypofractionated robotic SBRT.

Purpose: This study aimed to evaluate the prognostic significance of magnetic resonance imaging (MRI) parameters on biochemical failure-free survival (BFS) in patients diagnosed with intermediate-risk prostate cancer and treated with robotic ultrahypofractionated stereotactic body radiotherapy (SBRT) without androgen deprivation therapy (ADT).

Methods: A retrospective analysis was conducted in patients with intermediate-risk prostate cancer undergoing robotic SBRT delivered in five fractions with a total radiation dose of 35-36.25 Gy.

[Functional disorders in chronic inflammatory bowel disease: the gut-brain axis].

Background: In patients with inflammatory bowel diseases (IBD), functional complaints frequently persist after the clearing of inflammation and are clinically difficult to distinguish from symptoms of inflammation. In recent years, the influence of bidirectional communication between the gut and brain on gut physiology, emotions, and behavior has been demonstrated.

Research Questions: What mechanisms underlie the development of functional gastrointestinal complaints in patients with irritable bowel syndrome (IBS) and IBD? What therapeutic approaches arise from this?

Materials And Methods: Narrative review.

[Lower urinary tract dysfunction in children].

Lower urinary tract dysfunction (LUTD) is common in children and can significantly impact the quality of life in affected children and their families. This article provides a comprehensive overview of the causes, diagnostics, and treatment, with a particular focus on nonorganic urinary incontinence and nocturnal enuresis. Accurate diagnostics are essential to differentiate between organic and functional causes, as well as to distinguish primary from secondary forms of urinary incontinence.

Personalised estimation of exposure to ambient air pollution and application in a longitudinal cohort analysis of cognitive function in London-dwelling older adults.

Background: Accurate estimates of personal exposure to ambient air pollution are difficult to obtain and epidemiological studies generally rely on residence-based estimates, averaged spatially and temporally, derived from monitoring networks or models. Few epidemiological studies have compared the associated health effects of personal exposure and residence-based estimates.

Objective: To evaluate the association between exposure to air pollution and cognitive function using exposure estimates taking mobility and location into account.