A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing.

In order to plan and facilitate the culture of personalized / precision medicine in medical practices within any healthcare institution, it is requisite for healthcare professionals like clinicians to have a clear understanding and approach towards the practices of personalized genetic testing. This nationwide cross-sectional study aimed to measure the perceptions and knowledge of clinicians towards personalized genetic testing and assess their current practices of personalized genetic testing in clinical settings through an online self-administered questionnaire in Saudi Arabia. The results of the study revealed that almost two-fifths of participants were responsible for ordering genetic tests directly (39.

Prader-Willi syndrome protein necdin regulates the nucleocytoplasmic distribution and dopaminergic neuron development.

Dopamine (DA) plays important roles in various behaviors, including learning and motivation. Recently, THOC5 was identified as an important regulator in the development of dopaminergic neurons. However, how THOC5 is regulated has not been explored.

Management of chest tube after thoracoscopic lung resection in children with congenital lung malformation: a multicenter retrospective study.

This study aimed to investigate the safety and effect of omitting chest tubes after thoracoscopic lobectomy in children with congenital lung malformation. A multicenter retrospective study was performed with 632 thoracoscopic lobectomy CLM patients in four hospitals between 2014.1 and 2023.

Association of uveitis with pediatric autoimmune diseases based on a TriNetX study.

To investigate for the risk of uveitis among such patients. A retrospective cohort study utilized the TriNetX database and recruited pediatric autoimmune patients diagnosed between January 1st 2004 and December 31st 2022. The non-autoimmune cohort were randomly selected control patients matched by sex, age, and index year.

Effect of selective dorsal rhizotomy on bladder dysfunction in children with spastic cerebral palsy.

This study investigated the prevalence and severity of lower urinary tract symptoms (LUTS) in children with spastic cerebral palsy (SCP) and evaluated the effect of selective dorsal rhizotomy (SDR) in alleviating these symptoms. The study also explored the correlation between postoperative LUTS improvement and intraoperative electrophysiological findings. Prospective data were collected from a consecutive cohort of 247 children with SCP who underwent SDR and were retrospectively analyzed.

Alcohol-induced gut microbial reorganization and associated overproduction of phenylacetylglutamine promotes cardiovascular disease.

The mechanism(s) underlying gut microbial metabolite (GMM) contribution towards alcohol-mediated cardiovascular disease (CVD) is unknown. Herein we observe elevation in circulating phenylacetylglutamine (PAGln), a known CVD-associated GMM, in individuals living with alcohol use disorder. In a male murine binge-on-chronic alcohol model, we confirm gut microbial reorganization, elevation in PAGln levels, and the presence of cardiovascular pathophysiology.

Prophylactic HPV vaccination in HPV-related gynecologic cancers: European Society of Gynecological Oncology (ESGO) prevention committee opinion.

Many clinicians recommend that patients diagnosed with HPV-related gynecologic cancers receive prophylactic HPV vaccination at the time of cancer diagnosis or after cancer treatment. In view of the large use of such practice, we aimed to assess the literature evidence supporting the use of prophylactic HPV vaccines after diagnosis or treatment of HPV-related gynecologic cancers. Women who develop HPV-related cervical, vaginal, and vulvar cancers represent a subgroup of patients who may be particularly sensitive to HPV infection and re-acquire infections.

T* relaxometry of fetal brain structures using low-field (0.55T) MRI.

Purpose: Human brain development during gestation is complex, as both structure and function are rapidly forming. Structural imaging methods using MRI are well developed to explore these changes, but functional imaging tools are lacking. Low-field MRI is a promising modality to bridge this gap.

Youth With Functional Abdominal Pain Disorders Have More Sleep Disturbances. A School-Based Study.

Background: There is a bidirectional relationship between sleep and pain disturbances. Sleep disturbances increase the risk for chronic pain, while chronic pain can interfere with sleep. Hence, we assessed the subjective sleep characteristics of youth with functional abdominal pain disorders (FAPDs) compared to healthy youth and examined associations with gastrointestinal symptoms.

First-episode mild depression in young adults is a pre-proatherogenic condition even in the absence of subclinical metabolic syndrome: lowered lecithin-cholesterol acyltransferase as a key factor.

Background: Major depression is classified into distinct subtypes: simple (SDMD) and major dysmood disorder (MDMD). MDMD patients exhibit elevated atherogenicity and decreased reverse cholesterol transport (RCT). However, comprehensive data regarding lipid metabolism is absent in first episode (FE)-SDMD.

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Hyaluronic acid-targeted topotecan liposomes improve therapeutic efficacy against lung cancer in animals.

Lung cancer, as a serious threat to human health and life, necessitating urgent treatment and intervention. In this study, we prepared hyaluronic acid (HA)-targeted topotecan liposomes for site-specific delivery to tumor cells. The encapsulation efficiency, stability, chemical structure, and morphology of HA-targeted topotecan liposomes were studied, and the release properties, cellular uptake capacity, and therapeutic efficacy of topotecan were further investigated.

High prevalence of antimicrobial resistance genes in multidrug-resistant-ESBLs-producing post-COVID-19 pandemic.

Background And Objectives: is a common pathogen associated with healthcare-related infections. It is particularly notable for its ability to develop resistance to multiple antibiotics, making treatment challenging. During the COVID-19 pandemic, increased antibiotic use to manage critically ill patients was contributed to the rise of multidrug-resistant .

Optimizing immunogenicity and product presentation of a SARS-CoV-2 subunit vaccine composition: effects of delivery route, heterologous regimens with self-amplifying RNA vaccines, and lyophilization.

Introduction: Dozens of vaccines have been approved or authorized internationally in response to the ongoing SARS-CoV-2 pandemic, covering a range of modalities and routes of delivery. For example, mucosal delivery of vaccines via the intranasal (i.n.

Optimal surgical timing for congenital diaphragmatic hernia in a non-ECMO center: a retrospective study.

Background: This study aims to address the timing of repair for severe congenital diaphragmatic hernia (CDH) without the use of extracorporeal membrane oxygenation (ECMO) and to determine the feasibility of an earlier intervention to avoid deaths associated with non-repair in patients who are more challenging to stabilize without ECMO.

Methods: This single-center retrospective study was conducted on neonates with CDH from 2013 to 2023. Based on the timing of surgery, the patients were classified into three groups: <24 hours (group A), 24-48 hours (group B) and ≥48 hours (group C).

Methods families use to raise funds for anorectal malformation treatment at a single public referral hospital in Southwestern Uganda.

Background: In Uganda, only two public hospitals provide pediatric surgery services. With less than 10 pediatric surgeons serving approximately 20 million children in Uganda, most patients with anorectal malformations (ARMs) must make several trips to the hospital before undergoing surgery. As a result, households borrow money, sell assets, or solicit contributions from friends and relatives to meet healthcare expenses.

The ADHD Assessment Quality Assurance Standard for Children and Teenagers (CAAQAS).

Around 5% of the children and teenagers worldwide are affected by Attention-Deficit/Hyperactivity Disorder [ADHD], making it a major public health concern. Recently, demand for assessments has substantially increased, putting strain on healthcare and waiting lists. There is concern that pressure to clear service bottlenecks is leading to variable quality and reliability of ADHD assessments in this population.

An exploratory cluster-randomized controlled trial on mindfulness yoga's effectiveness in school-refusing children: reductions in SCAS-C physical injury fears and pulse rate.

Introduction: School refusal is one of the serious problems with children's mental health, and various studies have examined its prevalence and factors among students. Although many studies suggested that anxiety and depression are deeply associated with school refusal, there is little agreement as to effective interventions. The purpose of this paper is to evaluate the efficacy and safety of mindfulness yoga intervention in children with school refusal.

Clinical characteristics and serological profiles of Lyme disease in children: a 15-year retrospective cohort study in Switzerland.

Background: Lyme disease (LD) is caused by and is the most common tickborne disease in the northern hemisphere. Although classical characteristics of LD are well-known, the diagnosis and treatment are often delayed. Laboratory diagnosis by serological testing is recommended for most LD manifestations.

Decreased telomerase activity and shortened telomere length in infants whose mothers have gestational diabetes mellitus and increased severity of telomere shortening in male infants.

Objective: Gestational diabetes mellitus (GDM) is a common complication during pregnancy and increases the risk of metabolic diseases in offspring. We hypothesize that the poor intrauterine environment in pregnant women with GDM may lead to chromosomal DNA damage and telomere damage in umbilical cord blood cells, providing evidence of an association between intrauterine programming and increased long-term metabolic disease risk in offspring.

Methods: We measured telomere length (TL), serum telomerase (TE) activity, and oxidative stress markers in umbilical cord blood mononuclear cells (CBMCs) from pregnant women with GDM (N=200) and healthy controls (Ctrls) (N=200) and analysed the associations of TL with demographic characteristics, biochemical indicators, and blood glucose levels.

Effect of freezing and thawing on ejaculated sperm and subsequent pregnancy and neonatal outcomes in IVF.

Background: Techniques for sperm cryopreservation have exhibited their potential in male fertility preservation. The use of frozen-thawed sperm in fertilization (IVF) cycles is widespread today. However, many studies reported that cryopreservation might have adverse effects on sperm DNA integrity, motility, and fertilization, probably due to cold shock, intra- and extracellular ice crystals, and excess reactive oxygen species (ROS).

Immunoglobulin E (IgE)-mediated food allergy.

Food allergy is defined as an adverse immunologic response to a food. Immunoglobulin E (IgE)-mediated reactions to foods are associated with a broad range of signs and symptoms that may involve any of the following body systems: the skin, gastrointestinal tract, respiratory tract, and cardiovascular system. IgE-mediated food allergy is a leading cause of anaphylaxis.

Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies.

Background: Sickle cell disease (SCD) and β-thalassemia patients with elevated gamma globin (HBG1/G2) levels exhibit mild or no symptoms. To recapitulate this natural phenomenon, the most coveted gene therapy approach is to edit the regulatory sequences of HBG1/G2 to reactivate them. By editing more than one regulatory sequence in the HBG promoter, the production of fetal hemoglobin (HbF) can be significantly increased.

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.

Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.

Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.