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.

DCLRE1B as a novel prognostic biomarker associated with immune infiltration: a pancancer analysis.

The DNA cross-link repair 1B (DCLRE1B) gene is involved in repairing cross-links between DNA strands, including those associated with Hoyeraal-Hreidarsson syndrome and congenital dyskeratosis. However, its role in tumours is not well understood. DCLRE1B expression profiles were examined in tumour tissues and normal tissues using TCGA, GTEx, and TARGET datasets.

The relationship between serum vitamin C levels and high-sensitivity C-reactive protein in children.

The relationship between vitamin C nutritional status and inflammation has garnered increasing attention, but studies in younger populations are limited. This study aimed to investigate the association between serum vitamin C and high-sensitivity C-reactive protein (hs-CRP) levels in children and adolescents. A cross-sectional analysis was conducted using data from the National Health and Nutrition Examination Survey (NHANES).

Single unit-derived connectivity networks in tuberous sclerosis complex reveal propensity for network hypersynchrony driven by tuber-tuber interactions.

Network hypersynchrony is emerging as an important system-level mechanism underlying seizures, as well as cognitive and behavioural impairments, in children with structural brain abnormalities. We investigated patterns of single neuron action potential behaviour in 206 neurons recorded from tubers, transmantle tails of tubers and normal looking cortex in 3 children with tuberous sclerosis. The patterns of neuronal firing on a neuron-by-neuron (autocorrelation) basis did not reveal any differences as a function of anatomy.

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.

Differential effects of fine particulate matter constituents on acute coronary syndrome onset.

Fine particulate matter has been linked with acute coronary syndrome. Nevertheless, the key constituents remain unclear. Here, we conduct a nationwide case-crossover study in China during 2015-2021 to quantify the associations between fine particulate matter constituents (organic matter, black carbon, nitrate, sulfate, and ammonium) and acute coronary syndrome, and to identify the critical contributors.

Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series.

Autosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.

Pediatric T-lymphoblastic Leukemia With an Entirely Mature Immunophenotype: A Prompt and Challenging Diagnosis.

Children with T-ALL/LBL require prompt diagnosis and treatment. Flow cytometric analysis of T-lineage and immaturity markers usually leads to a straightforward diagnosis. However, rare cases of T-ALL expressing bright CD45 and lacking expression of immature markers can be a diagnostic conundrum and difficult to differentiate from mature T-cell lymphomas lacking surface CD3 expression or aberrantly expressing immature markers, which affects treatment decisions and prognosis.

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.

Robust Autism Spectrum Disorder-Related Spatial Covariance Gray Matter Pattern Revealed With a Large-Scale Multi-Center Dataset.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder and its underlying neuroanatomical mechanisms still remain unclear. The scaled subprofile model of principal component analysis (SSM-PCA) is a data-driven multivariate technique for capturing stable disease-related spatial covariance pattern. Here, SSM-PCA is innovatively applied to obtain robust ASD-related gray matter volume pattern associated with clinical symptoms.

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.

Outcomes Using a Standardized Provincial Childhood Nephrotic Syndrome Clinical Pathway.

Background: In 2013, the British Columbia (BC) Childhood Nephrotic Syndrome Clinical Pathway (CNSCP) was developed to standardize the care of children with nephrotic syndrome (NS). In BC, children access nephrology care at BC Children's Hospital (BCCH) and multiple regional clinics.

Objective: The primary objective was to compare induction therapy and clinical outcomes between BCCH and regional clinics since implementation of the CNSCP.

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.

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.

Inhibition of lysine-specific histone demethylase 1A suppresses adenomyosis through reduction in ectopic endometrial stromal cell proliferation, migration, and invasion.

Objective: Deep endometriosis is now referred to as adenomyosis externa, whereas adenomyosis is once known as endometriosis interna. Lysine-specific histone demethylase 1A (KDM1A, commonly LSD1) is a lysine demethylase that targets histone and non-histone proteins. This study aimed to assess how KDM1A affects the migration, invasion, and proliferation of adenomyosis-derived endometrial stromal cells (ESCs).

The role of SGK1 in neurologic diseases: A friend or foe?

Serum and glucocorticoid-regulated kinase 1 (SGK1), a member of the AGC family of serine/threonine protein kinases, is one of the most conserved protein kinases in eukaryotic evolution. SGK1 is expressed to varying degrees in various types of cells throughout the body, and plays an important role in hypertension, ion channels, oxidative stress, neurological disorders, and cardiovascular regulation. In recent years, a number of scholars have devoted themselves to the study of the role and function of SGK1 in neurological diseases.

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.