An altered natural killer cell immunophenotype characterizes clinically severe pediatric RSV infection.

Respiratory syncytial virus (RSV) infects nearly all children by 2 years of age and is a leading cause of pediatric hospitalizations. A subset of children with RSV infection (RSV children) develop respiratory failure requiring intensive care, but immune mechanisms distinguishing severe pediatric RSV infection are not fully elucidated. Natural killer (NK) cells are key innate immune effectors of viral host defense.

A new Anticalin protein for IL-23 inhibits non-type 2 allergen-driven mouse lung inflammation and airway hyperresponsiveness.

Severe asthma is a syndromic label assigned to patients based on clinical parameters, yet there are diverse underlying molecular endotypes in severe asthma pathobiology. Immunophenotyping of asthma biospecimens commonly includes a mixture of granulocytes and lymphocytes. Recently, a subset of patients with severe asthma was defined as non-type 2 with neutrophil-enriched inflammation associated with increased Th17 CD4 T cells and IL-17 levels.

Burden of Mendelian disorders in a large Middle Eastern biobank.

Background: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.

Methods: Here, we interrogate 6045 whole genomes from Qatar-a Middle Eastern population with high consanguinity and understudied mutational burden-enrolled at the national Biobank and phenotyped for 58 clinically-relevant quantitative traits. We examine a curated set of 2648 Mendelian genes from 20 panels, annotating known and novel pathogenic variants and assessing their penetrance and impact on the measured traits.

Vitamin D constrains inflammation by modulating the expression of key genes on Chr17q12-21.1.

Vitamin D possesses immunomodulatory functions and vitamin D deficiency has been associated with the rise in chronic inflammatory diseases, including asthma (Litonjua and Weiss, 2007). Vitamin D supplementation studies do not provide insight into the molecular genetic mechanisms of vitamin D-mediated immunoregulation. Here, we provide evidence for vitamin D regulation of two human chromosomal loci, Chr17q12-21.

Trimethylamine-N-oxide and cerebral stroke risk: A review.

Trimethylamine-N-oxide (TMAO) is a gut microbiota-derived metabolite produced by the action of gut microbiota and the hepatic enzyme Flavin Mono‑oxygenase 3 (FMO3). TMAO level has a positive correlation with the risk of cardiovascular events, including stroke, and their level is influenced mainly by dietary choice and the action of liver enzyme FMO3. TMAO plays a role in the development of atherosclerosis plaque, which is one of the causative factors of the stroke event.

Role of the Gut Bacteria-Derived Metabolite Phenylacetylglutamine in Health and Diseases.

Over the past few decades, it has been well established that gut microbiota-derived metabolites can disrupt gut function, thus resulting in an array of diseases. Notably, phenylacetylglutamine (PAGln), a bacterial derived metabolite, has recently gained attention due to its role in the initiation and progression of cardiovascular and cerebrovascular diseases. This meta-organismal metabolite PAGln is a byproduct of amino acid acetylation of its precursor phenylacetic acid (PAA) from a range of dietary sources like egg, meat, dairy products, etc.

Evaluation of Antidepressant Activity of Capsaicin Nanoemulsion in Nicotine Withdrawal-Induced Depression in Mice.

Depression is a low-energy condition that has an impact on a person's thoughts, actions, propensities, emotional state, and sense of wellbeing. According to the World Health Organization (WHO), 5% of adults are depressed. Individuals who are depressed are commonly prescribed antidepressants, and sometimes, individuals may have other psychiatric conditions that share overlapping symptoms with depression.

The Maresin 1-LGR6 axis decreases respiratory syncytial virus-induced lung inflammation.

The resolution of infection is an active process with specific molecular and cellular mechanisms that temper inflammation and enhance pathogen clearance. Here, the specialized pro-resolving mediator (SPM) Maresin 1 (MaR1) inhibited respiratory syncytial virus (RSV)-induced inflammation. inlerleukin-13 production from type 2 innate lymphoid cells (ILC) and CD4 T helper type 2 cells was decreased by exogenous MaR1.

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Background: The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public health planning and personalized medicine.

Methods: We evaluate the pilot phase cohort (n = 6,140 adults) of the Qatar Biobank (QBB) for FH using the Dutch Lipid Clinic Network (DLCN) criteria, followed by an in-depth characterization of all genetic alleles in known dominant (LDLR, APOB, and PCSK9) and recessive (LDLRAP1, ABCG5, ABCG8, and LIPA) FH-causing genes derived from whole-genome sequencing (WGS). We also investigate the utility of a globally established 12-SNP polygenic risk score to predict FH individuals in this cohort with Arab ancestry.

Unique cellular immune signatures of multisystem inflammatory syndrome in children.

The clinical presentation of MIS-C overlaps with other infectious/non-infectious diseases such as acute COVID-19, Kawasaki disease, acute dengue, enteric fever, and systemic lupus erythematosus. We examined the ex-vivo cellular parameters with the aim of distinguishing MIS-C from other syndromes with overlapping clinical presentations. MIS-C children differed from children with non-MIS-C conditions by having increased numbers of naïve CD8+ T cells, naïve, immature and atypical memory B cells and diminished numbers of transitional memory, stem cell memory, central and effector memory CD4+ and CD8+ T cells, classical, activated memory B and plasma cells and monocyte (intermediate and non-classical) and dendritic cell (plasmacytoid and myeloid) subsets.

Optimization and kinetic modeling of phosphate recovery as struvite by electrocoagulation from source-separated urine.

Phosphorus recovery is indispensable due to the rapid depletion of its natural reserves and excessive utility in agriculture. Though human urine has high nutrient content including phosphate, nitrogen and potassium; direct use as a fertilizer is restricted due to hygienic, environmental, social and ethical issues. To overcome these limitations, the nutrients are precipitated by the external addition of magnesium (Mg) to form a slow-releasing fertilizer called struvite.

Mouse phospholipid phosphatase 6 regulates dendritic cell cholesterol, macropinocytosis, and allergen sensitization.

Lipid phosphate phosphatases are a family of enzymes with diverse cellular metabolic functions. Phospholipid phosphatase 6 (PLPP6) is a regulator of cellular polyisoprenyl phosphates; however, its functions remain to be determined. Here, mouse PLPP6 was characterized to possess similar catalytic properties as the human enzyme.

Phase II study of sodium valproate in combination with oral etoposide in platinum-resistant ovarian cancer.

Patients with platinum-resistant ovarian cancer (PROC) have limited therapeutic options and poor survival. There is a need for the development of newer therapies. Sodium valproic acid (VPA) is a short-chain fatty acid histone deacetylase (HDAC) inhibitor with antitumor activity in preclinical models of PROC.

One-pot green synthesis of ZnO nanoparticles using plant extract for antimicrobial and antioxidant activities.

Nanostructured Zinc oxide (ZnO) materials have attained exciting research interests among various metal oxide nanoparticles due to their unique features. Thus, the scope of applications for ZnO nanoparticles (ZnO NPs) is vast and efficient. The current study demonstrates a simple and environmental-friendly approach for the synthesis of ZnO NPs using the extract of the .

Effect of Light-Emitting Diode Phototherapy on Serum Calcium Levels in Neonates With Jaundice.

Background: To assess the change in serum total calcium levels during light-emitting diode phototherapy treatment for jaundice in term neonates.

Methods: A prospective observational study was done on 104 term neonates with hyperbilirubinemia in a tertiary care center to investigate the effects of phototherapy using a light-emitting diode device. The total serum bilirubin along with total calcium levels was measured at the start and at the end of phototherapy.

An Interesting and Rare Case of Hemoglobin D-Punjab Variant in Tamil Nadu.

Hemoglobin D (Hb D), a variant of hemoglobin appears in a few Asian individuals belonging to India, Pakistan, Iran, Iraq, and other parts of the world. In India, it is mainly reported in the North-Western states. Hb D disease causes subclinical jaundice, or it may be asymptomatic with pallor in its heterozygous form.

Functional Characterization of the Variant p.E60Q in Non-Syndromic Hearing Loss Patients.

Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR) contains multiple genes, making identifying a single causative gene difficult. Here, we report a case of a boy with bicoronal craniosynostosis, facial dysmorphism, developmental delay, and intellectual impairment who was found by whole genome sequencing to have a homozygous missense mutation in the Single-Minded Homolog 2 (SIM2) gene (c.

Effective interventions to improve long-term physiotherapy exercise adherence among patients with lower limb osteoarthritis. A systematic review.

Introduction: Osteoarthritis (OA) is a chronic condition. Physiotherapy is known to be beneficial for people with OA. Patient adherence to physiotherapy exercise is essential for the effective management of OA.

Response of South Indian girls with central precocious puberty to gonadotrophin analogue (GnRHa) therapy - a single center experience.

Aim Of The Study: To describe the clinical, auxological, biochemical and radiological response to GnRH analogue in female children with central precocious puberty (CPP).

Material And Methods: The data on 22 female children presenting with the larche < 8 years, pubarche < 8 years or menarche < 9 years diagnosed as CPP was collected from the records over a four year period. Assessment included growth parameters, Tanners staging; bone age (BA) by Greulich and Pyle method, ultrasonography of abdomen to assess uterine length and ovarian size and z score derived; biochemical evaluation included serum luteinising hormone (LH), follicle stimulating hormone (FSH) and estradiol (E2); and MRI brain.

Clinical, Genetic and Functional Characterization of a Novel Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.

Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin receptor-2 () gene cause congenital NDI and have an X-linked recessive inheritance. The disorder affects almost exclusively male family members, but female carriers occasionally present partial phenotypes due to skewed inactivation of the X-chromosome.

Validation of CanAssist Breast immunohistochemistry biomarkers on an automated platform and its applicability in tissue microarray.

CanAssist Breast (CAB) is a prognostic test for early-stage hormone receptor-positive invasive breast cancer. The test involves performing immunohistochemical (IHC) analysis for five biomarkers, namely CD44, ABCC4, ABCC11, N-cadherin, and pan-cadherin. In addition to IHC grading information, three clinical features, i.