Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.

Predictors of outcomes in infants with gastroschisis treated with a preformed silo.

Purpose: To describe the outcomes of infants with gastroschisis treated with a preformed silo (PFS) and determine whether routinely measured early physiological parameters, sepsis (blood culture positive), gastroschisis complexity or location of birth influenced the length of stay (LOS) and duration of parenteral nutrition (PN).

Methods: Infants cared for in a tertiary surgical neonatal intensive care unit during a 10-year period were identified.

Results: Seventy-seven infants were assessed [median gestational age 36 + 6 (IQR 35 + 3 to 38 + 0)] weeks.

Cross-Sex Hormone Therapy Is Associated With Loss of Circadian Rhythm in the Male Rat.

Background: Transgender women are individuals born male but identify as female. Many transgender women undergo gender-affirming hormone therapy to alleviate the distress that can occur due to gender incongruence. For transgender women, gender-affirming hormone therapy includes 17β-estradiol (E2) combined with an antiandrogen therapy (AA) or surgical intervention.

Genomic regions associated with Holstein heifer times bred to artificial insemination and embryo transfer services.

This study aimed to identify loci (p < 1 × 10) and gene sets (normalized enrichment score (NES) ≥ 3.0) associated with the number of times a heifer is bred to attain a successful pregnancy (TBRD) for Holstein heifers bred by artificial insemination (AI, n = 2754) or that were embryo transfer (ET, n = 1566) recipients. Eight loci were associated (p < 1 × 10) with TBRD in AI bred heifers and four loci were associated with TBRD in ET recipients.

An efficient and effective RNA extraction protocol for ferns.

Premise: The extraction of high-quality RNA is the critical first step for the analysis of gene expression and gene space. This remains particularly challenging in plants, and especially in ferns, where the disruption of the cell wall and separation of organic compounds from nucleic acids is not trivial.

Methods: We developed a cetyltrimethylammonium bromide (CTAB)-based RNA extraction protocol that consistently performs well across a large phylogenetic breadth of ferns-a lineage of plants high in secondary compounds-and in an array of tissue types.

Placental nanoparticle-mediated IGF1 gene therapy corrects fetal growth restriction in a guinea pig model.

Fetal growth restriction (FGR) caused by placental insufficiency is a major contributor to neonatal morbidity and mortality. There is currently no in utero treatment for placental insufficiency or FGR. The placenta serves as the vital communication, supply, exchange, and defense organ for the developing fetus and offers an excellent opportunity for therapeutic interventions.

Analysis of a Pilot Study Delivering Cancer Survivorship Education to Community Healthcare Professionals Utilizing the Project ECHO Model.

As the number and needs of cancer survivors grow, innovative ways to enhance survivorship expertise are needed. This pilot study evaluated a 12-week cancer survivorship curriculum delivered to two cohorts of providers at affiliated sites within the Mercy Health System, utilising the Project ECHO® model, on provider self-efficacy (SE), knowledge (KN), and professional improvement (PI). Providers received six 1-hour sessions, informed by provider needs assessment, over 12 weeks.

Perceptions of Illness Control, Coherence, and Self-Efficacy Following a Web-Based Lifestyle Program for Multiple Sclerosis: A Qualitative Analysis of Semistructured Interviews.

Background: Evidence suggests that illness perceptions held by people living with multiple sclerosis (MS) impact affective distress and physical health outcomes. In a randomized controlled trial, we developed 2 MS Online Courses-the standard care course and the intervention course (IC). The IC was adapted from an evidence-based lifestyle program.

A Covalent Chemical Probe for nsP2 Cysteine Protease with Antialphaviral Activity and Proteome-wide Selectivity.

RA-0003022 () was identified as a high-quality covalent chemical probe for nsP2 cysteine protease (nsP2pro). Isoxazole covalently captured the active site C478 and inactivated the enzyme with a / ratio of 6000 Ms. A negative control analog RA-0025453 () retained the covalent warhead but demonstrated >100-fold decrease in enzyme inhibition.

Methodology for Studying Hypothalamic Regulation of Feeding Behaviors.

Continuous advances in neurological research techniques are enabling researchers to further understand the neural mechanisms that regulate energy balance. In this review, we specifically highlight key tools and techniques and explore how they have been applied to study the role of the hypothalamic arcuate nucleus in feeding behaviors. Additionally, we provide a detailed discussion of the advantages and limitations associated with each methodology.

A logic-based resilience metric for water resource recovery facilities.

This study develops quantifiable metrics to describe the resilience of Water Resource Recovery Facilities (WRRFs) under extreme stress events, including those posed by long-term challenges such as climate change and population growth. Resilience is the ability of the WRRFs to withstand adverse events while maintaining compliance or an operational level of service. Existing studies lack standardised resilience measurement methods.

Predicting Cloud-To-Ground Lightning in the Western United States From the Large-Scale Environment Using Explainable Neural Networks.

Lightning is a major source of wildfire ignition in the western United States (WUS). We build and train convolutional neural networks (CNNs) to predict the occurrence of cloud-to-ground (CG) lightning across the WUS during June-September from the spatial patterns of seven large-scale meteorological variables from reanalysis (1995-2022). Individually trained CNN models at each 1° × 1° grid cell ( = 285 CNNs) show high skill at predicting CG lightning days across the WUS (median AUC = 0.

Intravascular Ultrasound Assessment of Arterial Dissections Following Rotarex Atherectomy: Results of the iDissection Rotarex Study.

Background: There are limited data on the mechanism of the Rotarex Rotational Excisional Atherectomy System in treating femoropopliteal arterial disease. The Rotarex iDissection study is a prospective, single center study evaluating the extent of excision and dissection in de novo and restenotic (not in-stent) lesions of the femoropopliteal arteries in symptomatic peripheral arterial disease patients.

Methods: Consecutive patients with symptomatic peripheral arterial disease were prospectively enrolled in the Rotarex iDissection study at a single US center after obtaining informed consent.

Secondary causal mediation analysis of a pragmatic clinical trial to evaluate the effect of chiropractic care for US active-duty military on biopsychosocial outcomes occurring through effects on low back pain interference and intensity.

Objective: We evaluate change in low back pain (LBP) intensity and interference as the mechanism by which chiropractic care affects other biopsychosocial factors in US active-duty military members.

Design: We conducted secondary, exploratory mediation analysis of pragmatic, multisite, clinical trial (NCT01692275) post results using natural effect modeling. Mediators were the 6-week values of Patient-Reported Outcomes Measurement Information System (PROMIS)-29 pain interference and intensity.

Optimisation of a multiplexed, high throughput assay to measure neutralising antibodies against SARS-CoV-2 variants.

A multiplexed, lentivirus-based pseudovirus neutralisation assay (pVNT) was developed for high-throughput measurement of neutralising antibodies (nAbs) against three distinct SARS-CoV-2 spike variants. Intra-assay variability was minimised by optimising the plate layout and determining an optimal percentage transduction for the pseudovirus inoculum. Comparison of EC titres between single and multiplexed pVNT assays showed no significant differences, indicating reliability of the multiplexed assay.

A mobile app for chronic disease self-management for individuals with low health literacy: A multisite randomized controlled clinical trial.

The purpose of this study was to evaluate the effects of a mobile app designed to improve chronic disease self-management in patients 40 years and older with low health literacy and who had at least one chronic health condition, and to assess the impact of delivering information at different levels of reading difficulty. A randomized controlled trial was completed at two sites. Individuals aged 40 years and older screened for low health literacy who had at least one chronic health condition were randomly assigned to a tailored information multimedia app with text at one of three grade levels.

A qualitative study on the experiences of autologous haematopoietic stem cell transplant for Multiple Sclerosis.

Aim: Autologous haematopoietic stem cell transplant (HSCT) is an effective treatment for people with highly-active relapsing multiple sclerosis (MS), who are not adequately responding to disease-modifying therapies. To date, research has predominantly focused on disease-specific outcome measures. There is a lack of research exploring patient experiences of this complex treatment.

Early high-dose cryoprecipitate to reduce mortality in adult patients with traumatic haemorrhage: the CRYOSTAT-2 RCT with cost-effectiveness analysis.

Background: Traumatic haemorrhage is common after severe injury, leading to disability and death. Cryoprecipitate, a source of fibrinogen, may improve outcomes for patients with traumatic haemorrhage.

Objective: To investigate the effects of early fibrinogen supplementation in the form of 3 pools (15 units, approximately 6 g of fibrinogen) of cryoprecipitate on 28-day mortality.

"No doctor ever asked me…so I thought it wasn't a valid concern": endometriosis patients' perspectives of barriers and facilitators to sexual health communication in general practice.

Background: Sexual health communication between general practitioners (GPs) and individuals with chronic diseases is well documented as an important component of sexual well-being. However, a notable gap exists in understanding factors that contribute to sexual health communication in the endometriosis context. Endometriosis-related research has focused on the assessment of sexual functioning and its role in influencing health-related quality of life, with a limited understanding of the management of sexual well-being in primary healthcare settings.

Exam quality of ultrasound and dynamic contrast-enhanced abbreviated MRI and impact on early-stage HCC detection.

Purpose: MRI is a potential alternative to ultrasound for hepatocellular carcinoma (HCC) detection. We evaluated the impact of ultrasound and dynamic abbreviated MRI (AMRI) exam quality on early-stage HCC detection.

Methods: We conducted a multicenter case-control study among patients with cirrhosis (cases with early-stage HCC per Milan Criteria; controls without HCC) who underwent both a liver ultrasound and dynamic contrast-enhanced (DCE) AMRI within 6 months in 2012-2019.