TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.

Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.

Do routine antibiotics change the myelomeningocele infection rate? A case series.

Background: Myelomeningocele (MMC) is the most common type of congenital spinal malformation, typically requiring surgical intervention. While prenatal repair is increasingly favored, postnatal repair remains the standard in many settings. This study aims to evaluate the antibiotics prescribed to neonates with MMC and their correlation with central nervous system (CNS) infection rates following postnatal surgical repair.

The epidemiology of alcohol involved facial injuries.

Purpose: Alcohol use has been shown to affect injury patterns and risk of trauma. This study aims to characterize the epidemiologic characteristics of alcohol involved facial injuries presenting to US emergency departments.

Methods: This study reports a cross-sectional analysis of patients with facial injuries within the National Electronic Injury Surveillance System (NEISS).

Expert consensus statement for quantitative measurement and morphologic assessment of optical coherence tomography: update 2025.

In this updated expert consensus document, the methods for the quantitative measurement and morphologic assessment of optical coherence tomography (OCT) / optical frequency domain imaging images (OFDI) are briefly summarized. The focus is on the clinical application and the clinical evidence of OCT / OFDI to guide percutaneous coronary interventions.

The prevalence of postpartum depression among women with physical disabilities: a systematic review and meta-analysis.

Purpose: Pregnant and postpartum mothers with physical disabilities face discrimination in healthcare settings and high rates of maternal and obstetric complications, as well as having higher rates of lifetime depression prior to pregnancy, potentially increasing their likelihood of experiencing postpartum depression (PPD). Some studies have found higher rates of PPD in mothers with physical disabilities than in mothers without physical disabilities, with more disabling symptoms associated with worse PPD systems; however, the literature is sparse and heterogenous. This systematic review and meta-analysis advanced this area of study by evaluating the strength of the association between PPD and physical disability.

Skin cancer knowledge, attitudes, beliefs, and prevention practices among beachgoers: a narrative review.

People who spend time at the beach at increased risk for ultraviolet light (UV) exposure. This review assessed skin cancer-related knowledge, attitudes, beliefs, and prevention practices among beachgoers and sunbathers at the beach. Relevant articles were search in the following electronic databases: PubMed (Medline), Cumulative Index to Nursing and Allied Health (CINAHL), ERIC, and PsycINFO.

Longitudinal impact of extended-hours hemodialysis with a liberalized diet on nutritional status and survival outcomes: findings from the LIBERTY cohort.

Background: Protein-energy wasting (PEW), a unique weight loss linked to nutritional and metabolic abnormalities, is common in patients undergoing hemodialysis (HD) and associated with adverse outcomes. This study investigated whether extended-hours HD combined with a liberalized diet could overcome PEW and improve survival.

Methods: The body mass index (BMI) and survival outcomes in patients undergoing extended-hours HD were evaluated for up to 8 years using data from the LIBeralized diet Extended-houRs hemodialysis Therapy (LIBERTY) cohort.

Short-Chain Fatty Acids: Promising Therapeutic Targets for Respiratory Syncytial Virus Infection.

The intestinal microbiota is a complex community of organisms present in the human gastrointestinal tract, some of which can produce short-chain fatty acids (SCFAs) through the fermentation of dietary fiber. SCFAs play a major role in mediating the intestinal microbiota's regulation of host immunity and intestinal homeostasis. Respiratory syncytial virus (RSV) can cause an imbalance between anti-inflammatory and proinflammatory responses in the host.

Real-world switching patterns and associated characteristics in patients with psoriasis treated with biologics.

Multiple parameters define the treatment course with biologics for a psoriatic patient while treatment switches are often associated with worse prognosis. The purpose of this study was to describe the switching patterns of biologics for psoriasis in the Greek market landscape and to detect associated factors that may impact the evolvement of selected therapy. This is a retrospective cohort study using data recorded in the nationwide digital prescription database of Greece.

Unveiling pterion variability: a meta-analytic approach to enhance neurosurgical precision.

Purpose: This meta-analytical systematic review aims at investigating the variability of the pterion, focusing on its morphological types and precise distances from various bony landmarks. Additionally, the neurosurgical significance of this critical cranial landmark is examined in depth.

Methods: The systematic review was conducted following PRISMA 2020 and Evidence-based Anatomy Workgroup guidelines for anatomical studies.

Identifying care gaps and referral patterns in acute dermatology at urgent care centers.

Limited urgent access to board-certified dermatologists drives patients to seek dermatologic care at urgent care centers (UCC). UCC are staffed by clinicians with comparatively limited dermatology training, often resulting in lower quality care for acute dermatology conditions. Using a retrospective cohort of 839 referrals, this study investigates health care referral outcomes for patients seeking dermatologic care at UCC.

Evaluating the biological impact of shelters on astronaut health during different solar particle events: a Geant4-DNA simulation study.

Mechanistic Monte Carlo simulations have proven invaluable in tackling complex challenges in radiobiology, for example for protecting astronauts from solar particle events (SPEs) during deep space missions which remains an underexplored area. In this study, the Geant4-DNA Monte Carlo code was used to assess the DNA damage caused by SPEs and evaluate the protective effectiveness of a multilayer shelter. By examining the February 1956 and October 1989 SPEs-two extreme cases-the results showed that the proposed shelter reduced DNA damage by up to 57.

Incorporating Perineorrhaphy into the LeFort Colpocleisis: A Modified Surgical Approach.

Introduction And Hypothesis: Perineorrhaphy with levator myorrhaphy is considered a standard part of colpocleisis. Typically, this is done through a separate incision after colpocleisis is completed. We present a video to demonstrate a modified approach to LeFort colpocleisis incorporating perineorrhaphy into the procedure.

Assessing Kinesiophobia and Catastrophizing Patient-Reported Outcomes in a Randomized Controlled Trial: Efficacy of Capacitive-Resistive Monopolar Radiofrequency Combined with Myofascial Techniques vs. Sham Radiofrequency in Chronic Pelvic Pain Syndrome-A Secondary Analysis.

Introduction And Hypothesis: Chronic Pelvic Pain Syndrome causes psychological distress, worsened by kinesiophobia and pain catastrophizing. This study assesses whether combining capacitive-resistive monopolar radiofrequency with myofascial techniques is more effective than myofascial techniques alone for improving psychological outcomes such as kinesiophobia and catastrophizing.

Methods: This double-blind, randomized controlled trial enrolled 81 chronic pelvic pain syndrome patients (67.

Fasting glucose levels at diagnosis and delivery are associated with postpartum glucose abnormalities in GDM women.

Women with a history of gestational diabetes mellitus (GDM) significantly increase the risk of developing type 2 diabetes later in life. Although the increased glucose levels typically return to normal range after delivery for most GDM women, a significant proportion of GDM women develop impaired glucose tolerance or overt diabetes after delivery. Several factors associated with postpartum glucose abnormalities have been identified, yet the link between fasting glucose levels at diagnosis of GDM and postpartum glucose abnormalities remains unclear.

Clinical Trials in Cancer Theranostics with Potential Near-Term Impact on Clinical Practice.

Theranostics has its roots with the first radioiodine therapy for thyroid diseases in about 80 years ago. More recently the field has experienced a remarkable renascence with the regulatory approval of paired imaging and radiopharmaceutical therapy agents in gastroenteropancreatic neuroendocrine tumors and metastatic castration-resistant prostate cancer that are now employed in routine clinical practice. The momentum is strong for identification and testing of new theranostic agents for use in various cancers and finding new clinical incications of the available agents.

tRNA m1A modification regulates cholesterol biosynthesis to promote antitumor immunity of CD8+ T cells.

Activation of CD8+ T cells necessitates rapid metabolic reprogramming to fulfill the substantial biosynthetic demands of effector functions. However, the posttranscriptional mechanisms underpinning this process remain obscure. The transfer RNA (tRNA) N1-methyladenine (m1A) modification, essential for tRNA stability and protein translation, has an undefined physiological function in CD8+ T cells, particularly in antitumor responses.

Screening for comprehensive social needs in patients with cancer: a narrative review.

Background: Patients with cancer who report social needs have worse quality of life, lower healthcare access, and suboptimal health outcomes. However, screening for social needs does not happen systematically and successful screening tools, strategies, and workflows have seldom been described. The downstream effects of screening including resource navigation have also not been well characterized.

Duration of aromatase inhibitor use and long-term cardiovascular risk in breast cancer survivors.

Background: There are limited data on duration of aromatase inhibitor (AI) and cardiovascular disease (CVD) risk in breast cancer (BC) survivors. We examined risk of CVD and mortality associated with duration of AI use in postmenopausal women with early-stage hormone receptor-positive BC.

Methods: Postmenopausal women diagnosed with hormone receptor-positive BC (n = 5,853) who used an AI were included.

Comprehensive Echocardiographic Protocol for Pigs with Emphasis on Diastolic Function: Advantages over MRI Assessment.

Swine are increasingly utilized in cardiovascular research due to their anatomical and physiological similarities to humans, particularly for studying diastolic dysfunction. While MRI offers excellent structural imaging, echocardiography provides superior real-time assessment of diastolic parameters. To address the lack of standardized methods and reduce variability across studies, we present a comprehensive guide for performing echocardiography in Yorkshire pigs, detailing anatomical considerations, equipment requirements, and technical approaches.

Tricuspid regurgitation and outcomes in mitral valve transcatheter edge-to-edge repair.

Background And Aims: The association between periprocedural change in tricuspid regurgitation (TR) and outcomes in patients undergoing mitral transcatheter edge-to-edge repair (M-TEER) is unclear. This study aimed to examine the prognostic value of TR before and after M-TEER.

Methods: Patients in the OCEAN-Mitral registry were divided into four groups according to baseline and post-procedure echocardiographic assessments: no TR/no TR (no TR), no TR/significant TR (new-onset TR), significant TR/no TR (normalized TR), and significant TR/significant TR (residual TR) (all represents before/after M-TEER).

Targeting Ketone Body Metabolism Improves Cardiac Function and Hemodynamics in Patients With Heart Failure: A Systematic Review and Meta-Analysis.

Context: The impacts of elevated ketone body levels on cardiac function and hemodynamics in patients with heart failure (HF) remain unclear.

Objective: The effects of ketone intervention on these parameters in patients with HF were evaluated quantitatively in this meta-analysis.

Data Sources: We searched the PubMed, Cochrane Library, and Embase databases for relevant studies published from inception to April 13, 2024.