Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.

Harnessing Big Heterogeneous Data to Evaluate the Potential Impact of HIV Responses Among Key Populations in Sub-Saharan Africa: Protocol for the Boloka Data Repository Initiative.

Background: In South Africa, there is no centralized HIV surveillance system where key populations (KPs) data, including gay men and other men who have sex with men, female sex workers, transgender persons, people who use drugs, and incarcerated persons, are stored in South Africa despite being on higher risk of HIV acquisition and transmission than the general population. Data on KPs are being collected on a smaller scale by numerous stakeholders and managed in silos. There exists an opportunity to harness a variety of data, such as empirical, contextual, observational, and programmatic data, for evaluating the potential impact of HIV responses among KPs in South Africa.

Understanding and Managing Pediatric Urinary Tract Infections in Vesicoureteral Reflux: Insights Into Pathophysiology and Care.

Vesicoureteral reflux (VUR) is a pediatric condition identified by the backward flow of urine from the bladder to one or both ureters and kidneys, predisposing patients to recurrent urinary tract infections (UTIs) and kidney scarring. Continuous antibiotic prophylaxis has long been a mainstay of management aimed at preventing recurrent UTIs and resulting renal damage. This review critically discusses the evidence supporting the utilization of antibiotic prophylaxis in VUR, with a focus on its efficacy, safety, long-term outcomes, and future directions in management.

Investigating the link between microplastic exposure (benzyl butyl phthalate) and neurodegenerative diseases using high-performance computational toxicology.

Background: Microplastics are tiny plastic particles, typically less than 5 mm in size, formed from the breakdown of larger plastic products. This breakdown releases additives, including benzyl butyl phthalate (BBP), into the environment. Humans can be exposed to BBP through contaminated food and water, inhalation, and dermal contact.

Highly Conductive Boron-Containing Electrolytes by Integrating Modeling and Experiments.

A highly conducting polymer electrolyte was developed, where the structure included molecular elements guided by computational modeling results. The electrolyte comprises acidic boron and basic oxygen atoms within the molecular structure. Because of the presence of the boron and oxygen atoms within the structure, it interacts with the anion and cation of the dissolved salt and functions as an ion separator by increasing the bond length between the anion and cation.

Calculation of vessel pulse wave velocities in retinal vein segments within the optic disc centre.

The carotid-femoral pulse wave velocity (PWV) method is used clinically to determine degrees of stiffness and other indices of disease. It is believed PWV measurement in retinal vessels may allow early detection of diseases. In this paper we present a new non-invasive method for estimating PWVs in retinal vein segments close to the optic disc centre, based on the measurement of blood column pulsation in retinal veins (reflective of vessel wall pulsation), using modified photoplethysmography (PPG).

Lie symmetry analysis on heat and mass transport aspects of rate type fluid flow with waste discharge concentration: Keller Box approach.

The present analysis examines the effect of thermal radiation on the stream of Maxwell liquid past a stretchy surface in the presence of a zero-mass flux condition. The effect of waste discharge concentration, thermophoresis-Brownian motion, and porous media on the fluid motion is also considered. Investigation of the liquid flow with waste discharge concentration in stretched sheets may lead to the growth of effective methods for disposing of waste and preventing pollution.

A scientific report on heat transfer analysis due to generated and absorbed heat over an oscillatory stretching sheet: a finite difference-based study.

A non-Newtonian liquid motion across a stretchable surface is relevant to various industrial applications, including extruding plastic sheets and stretching plastic films. In connection with this, the impact of endothermic and exothermic chemical reactions on the flow of rate-type liquid via an oscillatory stretching sheet in the presence of permeable media with the Maxwell liquid model is elucidated in the present study. Scientists and engineers may enhance the efficiency of chemical reactions or heat transmission by optimising system flow and investigating the effect of reactions on flow dynamics.

Biofunctionalized gelatin hydrogels support development and maturation of iPSC-derived cortical organoids.

Human neural organoid models have become an important tool for studying neurobiology. However, improving the representativeness of neural cell populations in such organoids remains a major effort. In this work, we compared Matrigel, a commercially available matrix, to a neural cadherin (N-cadherin) peptide-functionalized gelatin methacryloyl hydrogel (termed GelMA-Cad) for culturing cortical neural organoids.

A Review and Analysis of Evaluation Practices in VIS Domain Applications.

This paper presents a review and analysis of evaluation practices within the visualization and visual analytics (VIS) domain, with a focus on domain application work accepted at the IEEE VIS conference from 2018 to 2022. Through the analysis of 140 pertinent papers, we establish a detailed classification principle for evaluation practices, using the Who, When, What, and How indicators. This principle covers facets such as analysis methods, targets, scenarios, participant expertise, and stages of occurrence.

IoT Forensics: Current Perspectives and Future Directions.

The Internet of Things forensics is a specialised field within digital forensics that focuses on the identification of security incidents, as well as the collection and analysis of evidence with the aim of preventing future attacks on IoT networks. IoT forensics differs from other digital forensic fields due to the unique characteristics of IoT devices, such as limited processing power and connectivity. Although numerous studies are available on IoT forensics, the field is rapidly evolving, and comprehensive surveys are needed to keep up with new developments, emerging threats, and evolving best practices.

Accurate statistical methods to cover the aspects of the increase in the incidence of kidney failure: A survey study in Ha'il -Saudi Arabia.

Introduction: Chronic kidney disease (CKD) has become more common in recent decades, putting significant strain on healthcare systems worldwide. CKD is a global health issue that can lead to severe complications such as kidney failure and death.

Objective: The purpose of this study was to investigate the actual causes of the alarming increase of kidney failure cases in Saudi Arabia using the supersaturated design analysis and edge design analysis.

Biallelic loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate the Wnt/β-catenin signaling pathway.

Materials And Methods: In this study, we conducted a genetic and clinical evaluation of a single family with three affected individuals suffering from intellectual disability (ID), global developmental delay (GDD) and dysmorphic facial features.

Management of triple-negative breast cancer by natural compounds through different mechanistic pathways.

Triple-negative breast cancer (TNBC) is the most severe form of breast cancer, characterized by the loss of estrogen, progesterone, and human epidermal growth factor receptors. It is caused by various genetic and epigenetic factors, resulting in poor prognosis. Epigenetic changes, such as DNA methylation and histone modification, are the leading mechanisms responsible for TNBC progression and metastasis.

Evaluation of dental students and alumni's confidence level in orthodontic diagnosis and treatment-planning: A qualitative study.

Background: Orthodontic education, besides some other factors, influences the confidence level of recently graduated dentists to diagnose subjects seeking orthodontic treatment and provide treatment plans. This study aims to explore the factors that influence the confidence level of undergraduate dental students to diagnose subjects seeking orthodontic treatment and provide treatment plans after graduation.

Methods: A qualitative study was undertaken using focus groups and interviews.

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.

Background: Neuron navigator 3 (NAV3) is characterized as one of the neuron navigator family (NAV1, NAV2, NAV3) proteins predominantly expressed in the nervous system. The NAV3-encoded protein comprises a conserved AAA and coiled-coil domains characteristic of ATPases, which are associated with different cellular activities.

Methods: We describe a Saudi proband presenting a complex recessive neurodevelopmental disorder (NDD).

Probability density and information entropy of machine learning derived intracranial pressure predictions.

Even with the powerful statistical parameters derived from the Extreme Gradient Boost (XGB) algorithm, it would be advantageous to define the predicted accuracy to the level of a specific case, particularly when the model output is used to guide clinical decision-making. The probability density function (PDF) of the derived intracranial pressure predictions enables the computation of a definite integral around a point estimate, representing the event's probability within a range of values. Seven hold-out test cases used for the external validation of an XGB model underwent retinal vascular pulse and intracranial pressure measurement using modified photoplethysmography and lumbar puncture, respectively.

Lipid-siRNA conjugate accesses perivascular transport and achieves durable knockdown throughout the central nervous system.

Short-interfering RNA (siRNA) has gained significant interest for treatment of neurological diseases by providing the capacity to achieve sustained inhibition of nearly any gene target. Yet, efficacious drug delivery throughout deep brain structures of the CNS remains a considerable hurdle for intrathecally administered therapeutics. We herein describe an albumin-binding lipid-siRNA conjugate that transports along meningeal and perivascular CSF pathways, leading to broad dispersion throughout the CNS parenchyma.

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).

Polydactyly is a very common digit anomaly, having extra digits in hands and/or toes. Non-syndromic polydactyly in both autosomal dominant and autosomal recessive forms are caused by disease-causing variants in several genes, including GLI1, GLI3, ZNF141, FAM92A, IQCE, KIAA0825, MIPOL1, STKLD1, PITX1, and DACH1. Whole exome sequencing (WES) followed by bi-directional Sanger sequencing was performed for the single affected individual (II-1) of the family to reveal the disease causative variant/gene.

ERNEST COST action overview on the (patho)physiology of GPCRs and orphan GPCRs in the nervous system.

G protein-coupled receptors (GPCRs) are a large family of cell surface receptors that play a critical role in nervous system function by transmitting signals between cells and their environment. They are involved in many, if not all, nervous system processes, and their dysfunction has been linked to various neurological disorders representing important drug targets. This overview emphasises the GPCRs of the nervous system, which are the research focus of the members of ERNEST COST action (CA18133) working group 'Biological roles of signal transduction'.

Effect of metformin use on graft and patient survival in kidney transplant recipients with type 2 diabetes: a systematic review protocol.

Introduction: Metformin is a first-line antihyperglycaemic agent for type 2 diabetes (T2DM). In addition to glycaemic control, it offers benefits related to cardiovascular health, weight neutrality and metabolic syndrome. However, its benefits in kidney transplant recipients remain unclear as metformin use is controversial in this population due to a lack of evidence and there are recommendations against its use in patients with poor kidney function.