Integrin adhesome axis inhibits the RPM-1 ubiquitin ligase signaling hub to regulate growth cone and axon development.

Integrin signaling plays important roles in development and disease. An adhesion signaling network called the integrin adhesome has been principally defined using bioinformatics and cell-based proteomics. To date, the adhesome has not been studied using integrated proteomic and genetic approaches.

Unraveling Sex Differences in Kidney Health and CKD: A Review of the Effect of Sex Hormones.

Sexual dimorphism plays an important role in the pathogenesis and progression of CKD. Men with CKD often exhibit faster kidney function decline, leading to higher rates of kidney failure and mortality compared with women. Studies suggest that sex hormones may influence this apparent dimorphism, although the mechanisms underlying these influences remain poorly understood.

ClinValAI: A framework for developing Cloud-based infrastructures for the External Clinical Validation of AI in Medical Imaging.

Artificial Intelligence (AI) algorithms showcase the potential to steer a paradigm shift in clinical medicine, especially medical imaging. Concerns associated with model generalizability and biases necessitate rigorous external validation of AI algorithms prior to their adoption into clinical workflows. To address the barriers associated with patient privacy, intellectual property, and diverse model requirements, we introduce ClinValAI, a framework for establishing robust cloud-based infrastructures to clinically validate AI algorithms in medical imaging.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Feasibility of an electronic patient-facing cancer family history tool in medically underserved populations.

Purpose: We developed an electronic patient-facing family history collection tool including B-RST 3.0, PREMM risk assessments and "limited family knowledge/structure" information designed for primary care settings. We evaluated the tool's performance compared with genetic-counselor-collected information for clinical risk stratification in a population with barriers to access.

Prevalence of probable post-traumatic stress disorder and experiences of trauma in emerging adults living with HIV in Zimbabwe.

Background: Little is known about the prevalence of post-traumatic stress disorder (PTSD) in emerging adults living with HIV in low-income countries.

Aims: Determine prevalence of trauma exposure, prevalence of probable PTSD and conditional prevalence of probable PTSD for different traumatic events; and better understand the experiences of individuals with HIV and PTSD.

Method: This mixed method study used secondary data from a cross-sectional survey of people ( = 222) aged 18 to 29 living with HIV in Zimbabwe and primary qualitative data collection.

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.

Inventories invite independence.

In this piece, we use an antibody inventory system to exemplify the potential benefits of laboratory organization in research environments. We highlight how inventories can support resource accessibility and strengthen a sense of independence for scientists, especially those new to research environments.

Traumatic lumbosacral instability: part 1 - proposing a definition and identifying underlying injury patterns.

Traumatic lumbosacral instability (TLSI) generally refers to a traumatic disruption of the lumbopelvic junction. The ambiguous use of this term has contributed to confusion and limited understanding of injuries that can impact lumbosacral stability. As of now, TLSI lacks a clear definition, and the underlying injury patterns remain inadequately characterized.

Clinical significance of toxin EIA positivity in patients with suspected infection: systematic review and meta-analysis.

The laboratory diagnosis of infection (CDI) is controversial. Nucleic acid amplification tests (NAAT) and toxin enzyme immunoassays (EIA) are most widely used, often in combination. However, the interpretation of a positive NAAT and negative toxin immunoassay (NAAT+/EIA-) is uncertain.

Low birthweight rate differences associated with distinct perinatal staffing mixes at federally funded health centers.

Health centers (sometimes referred to as "federally qualified health centers") can play an important role in addressing perinatal inequities. However, there is limited information on how different staffing models in health centers contribute to perinatal outcomes, including the availability of certified nurse midwives (CNMs). Using 2011-2021 Uniform Data System files, we examined 4 staffing models in 1385 health centers: those with no CNMs or obstetricians-gynecologists (OBs) ("non-CNM/OB"), CNM-only, OB-only, and both CNMs and OBs ("CNM/OB").

Primary retroperitoneal lymph node dissection in clinical stage 2a/b non-seminomatous germ cell tumour.

Objectives: To reassess the role of primary retroperitoneal lymph node dissection (RPLND) in patients with marker-negative non-seminomatous germ cell tumour (NSGCT) clinical stage (CS) 2a, to explore results in patients with CS 2b and to evaluate surgical methods, recurrence, and adjuvant chemotherapy indications.

Materials And Methods: Data from 17 institutions were collected, comprising 305 men who underwent primary RPLND for CS 2 NSGCT. Regression analyses were conducted to predict histology in the RPLND specimen and disease-free survival (DFS).

Access to Evaluation for Liver Transplantation in the Veterans Health Administration.

Background: As the largest US provider of cirrhosis care, the Veterans Health Administration (VA) is the ideal setting to assess patient-, clinician-, and site-level barriers to transplant evaluation.

Aims: To assess barriers to transplant evaluation referral among Veterans with cirrhosis or hepatocellular carcinoma (HCC).

Methods: Logistic regression assessed facility, patient, clinical, and distance factors associated with transplant referral for Veterans with cirrhosis or HCC, over 1 year.

Does machine learning improve prediction accuracy of the Endoscopic Third Ventriculostomy Success Score? A contemporary Hydrocephalus Clinical Research Network cohort study.

Purpose: This Hydrocephalus Clinical Research Network (HCRN) study had two aims: (1) to compare the predictive performance of the original ETV Success Score (ETVSS) using logistic regression modeling with other newer machine learning models and (2) to assess whether inclusion of imaging variables improves prediction performance using machine learning models.

Methods: We identified children undergoing first-time ETV for hydrocephalus that were enrolled prospectively at HCRN sites between 200 and 2020. The primary outcome was ETV success 6 months after index surgery.

Glycemia and Insulin Secretion in Cystic Fibrosis Two Years After Elexacaftor/Tezacaftor/Ivacaftor: PROMISE-ENDO.

Background: Elexacaftor/tezacaftor/ivacaftor (ETI) is a highly effective therapy that improves lung disease in people with cystic fibrosis (pwCF), but its effect on glucose tolerance and insulin secretion is unclear.

Methods: PROMISE is a multicenter prospective, observational study of ETI in pwCF ≥12 years and at least one F508del allele. The PROMISE Endocrine sub-study (PROMISE-ENDO) enrolled participants at 10 CF Centers where hemoglobin A1c (HbA1c) was collected and 3-hour oral glucose tolerance tests (OGTT) conducted to examine glucose tolerance, glucose excursions, insulin secretory rates (deconvolution of C-peptide) and sensitivity (oral minimal model) prior to ETI and 12-18 months (mos) and 24-30 mos following ETI initiation.

Identification and annotation of centromeric hypomethylated regions with CDR-Finder.

Motivation: Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-read mapping limitations. However, recent improvements in long-read sequencing allow for the investigation of complex regions of the genome at the sequence and epigenetic levels.

Results: Here, we present Centromere Dip Region (CDR)-Finder: a tool to identify regions of hypomethylation within the centromeres of high-quality, contiguous genome assemblies.

The use of skin traction as an intraoperative adjunct for correction during pediatric neuromuscular scoliosis correction.

Purpose: Intraoperative traction can improve deformity correction during posterior spinal fusion (PSF). This is commonly done with invasive distal femoral or pelvic pins, or traction boots. The novel technique of intraoperative skin traction (ISkinT) avoids risks associated with intraoperative skeletal traction (ISkelT) or hyperlordosis with extended hip position.

Developmental and Adult Striatal Patterning of Nociceptin Ligand Marks Striosomal Population With Direct Dopamine Projections.

Circuit influences on the midbrain dopamine system are crucial to adaptive behavior and cognition. Recent developments in the study of neuropeptide systems have enabled high-resolution investigations of the intersection of neuromodulatory signals with basal ganglia circuitry, identifying the nociceptin/orphanin FQ (N/OFQ) endogenous opioid peptide system as a prospective regulator of striatal dopamine signaling. Using a prepronociceptin-Cre reporter mouse line, we characterized highly selective striosomal patterning of Pnoc mRNA expression in mouse dorsal striatum, reflecting the early developmental expression of Pnoc.

An Improvement Project to Lower Pneumothorax Rates in Neonates Born at 36 Weeks' Gestational Age or Beyond.

Objective: Our institutional data revealed high pneumothorax rates in term neonates resuscitated in the delivery room (DR). Other studies have reported that high rates of continuous positive airway pressure (CPAP) in the DR are associated with increased pneumothorax rates. We sought to test the hypothesis that quality improvement efforts to reduce the use of CPAP in the DR would be associated with a reduced incidence of pneumothorax.