Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.

Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.

-specific machine learning model predicts variant pathogenicity with high accuracy.

Identification of novel variants outpaces their clinical annotation which highlights the importance of developing accurate computational methods for risk assessment. Therefore our aim was to develop a -specific machine learning model to predict the pathogenicity of all types of variants and to apply this model and our previous specific model to assess variants of uncertain significance (VUS) among Qatari patients with breast cancer. We developed an XGBoost model that utilizes variant information such as position frequency and consequence as well as prediction scores from numerous in silico tools.

Essential Oils Extracted from Oleo Gum Resin Loaded into PLGA-PCL Nanoparticles: Enhanced Cytotoxic and Apoptotic Effects against Breast Cancer Cells.

This work aims to develop and optimize blended polylactide--glycolide (PLGA) and poly(ε-caprolactone, PCL) loaded with oil (BO) to improve BO's physicochemical properties and anti-breast cancer effects enhancing apoptosis. In this context, BO was extracted from oleo gum resins (BO) hydrodistillation and chemically characterized by evaluating its essential oil's composition using gas chromatography-mass spectrometry. Then, BO/PLGA-PCL NPs were formulated using the emulsion (O/W) solvent evaporation technique using a PLGA-PCL mixture at five different ratios (1:1, 2:1, 3:1, 1:2, and 1:3, respectively).

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Lynch syndrome (LS) is the most common cause of hereditary colorectal cancers (CRC) and is associated with an increased risk for ovarian and endometrial cancers. There is lack of knowledge on the epidemiology of LS in the non-Caucasian populations especially in Qatar. The aim of this retrospective study is to explore the prevalence of LS in a selected high-risk cohort in the State of Qatar in addition to investigating the frequency and genotype-phenotype correlation associated with mismatch repair genes pathogenic variants.

Adherence to the Mediterranean Diet and Its Association With Sleep Quality and Chronotype Among Youth: A Cross-Sectional Study.

Background: Evidence indicates that many university students have poor adherence to a healthy diet accompanied by unhealthy lifestyle behaviors. Chrono-nutrition is an emerging field of research that examines the pattern of optimum daily activity in relation to the human's dietary patterns, and their reflections of variable health indicators such as sleep quality. However, there is a scarcity of research that examines the relationship between adherence to the healthy eating pattern, like the Mediterranean diet (MD), with sleep quality and chronotype among university students.

PLGA/PEG Nanoparticles Loaded with Cyclodextrin- Alkaloid Complex and Ascorbic Acid with Promising Antimicrobial Activities.

Antimicrobial drugs face numerous challenges, including drug resistance, systemic toxic effects, and poor bioavailability. To date, treatment choices are limited, which warrants the search for novel potent antivirals, including those extracted from natural products. The seeds of L.

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the RAB27A gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c.

Reduction and functionalization of graphene oxide with L-cysteine: Synthesis, characterization and biocompatibility.

This article presents data on the synthesis, identification, computer simulation and biocompatibility of graphene oxide (GO) functionalized with L-cysteine (GFC). It was determined that GO reacts with L-cysteine in two different ways: in an alkaline medium, L-cysteine reduces functional groups on the surface and at the boundaries of GO; with heating and the use of thionyl chloride, L-cysteine covalently attaches to GO through carboxylic groups only at the boundaries. The identification of GO, reduced graphene oxide and GFC was performed using various physicochemical methods, including infrared spectroscopy, Raman spectroscopy, X-ray diffraction, X-ray photoelectron spectroscopy, thermogravimetric analysis, scanning electron microscopy and high-resolution transmission electron microscopy.

Case Report on a Rare Intraoperative Finding of Ectopic Liver Tissue Attached to Gallbladder Wall during Laparoscopic Cholecystectomy.

Introduction: Ectopic liver is a rare finding (Corsy, 1922; Kubota et al., 2007) that is usually discovered intraoperatively or during an autopsy (Bassis and Izenstark, 1956). Preoperative diagnosis of ectopic liver is also uncommon.

Developmental Disturbance of a Maxillary Permanent Lateral Incisor Following Trauma at the Age of 16 Months: A 6-Year Follow-Up.

A 3 year and 8 months old Chinese boy was referred for a consultation regarding his missing maxillary anterior teeth. He had a history of trauma to his primary maxillary anterior teeth due to a fall at the age of 16 months. Clinical examination of the patient indicated multiple carious lesions and inadequate oral hygiene.

Long-term dental management of a patient with features of Schöpf-Schulz-Passarge syndrome.

Schöpf-Schulz-Passarge syndrome (SSPS) is thought to be a rare autosomal recessive condition similar to many other ectodermal dysplasias. Diagnosis is difficult, with many possible differential diagnoses; however, eyelid cysts are a commonly seen feature. This clinical report aims to highlight this and describe the dental features and management of this syndrome, which existing literature has not previously described.

Being Fully Present: Gains Patients Attribute to a Telephone-Delivered Parenting Program for Child-Rearing Mothers With Cancer.

Background: Oncology nurses can assist patients in gaining skills and confidence in multiple areas of illness self-management, including parenting skills. Child-rearing parents with cancer are a unique population because they must self-manage their illness and also help their child manage the intrusion of cancer on everyday life. The telephone offers an inexpensive channel for nurses to assist mothers in developing competencies to parent their child.

The Enhancing Connections-Telephone study: a pilot feasibility test of a cancer parenting program.

Purpose: The purposes of the study were to (1) test the short-term impact of a telephone-delivered cancer parenting education program, the Enhancing Connections-Telephone (EC-T) Program, on maternal anxiety, depressed mood, parenting competencies, and child behavioral-emotional adjustment and (2) compare those outcomes with outcomes achieved from an in-person delivery of the same program (EC).

Methods: Thirty-two mothers comprised the sample for the within-group design and 77 mothers for the between-group design. Mothers were eligible if they had one or more dependent children and were recently diagnosed with stages 0-III breast cancer.

Fluoride Content of Bottled Waters in Hong Kong and Qatar.

Objectives: To determine the F concentration of bottled waters that was available in Hong Kong and Qatar.

Study Design: The F concentrations of bottled waters collected from Hong Kong (n=81) and Qatar (n=32) were analysed. The F ion selective electrode method was used to measure the F concentration in the samples.

New insights on the role of paired membrane structures in coronavirus replication.

The replication of coronaviruses, as in other positive-strand RNA viruses, is closely tied to the formation of membrane-bound replicative organelles inside infected cells. The proteins responsible for rearranging cellular membranes to form the organelles are conserved not just among the Coronaviridae family members, but across the order Nidovirales. Taken together, these observations suggest that the coronavirus replicative organelle plays an important role in viral replication, perhaps facilitating the production or protection of viral RNA.

Competitive fitness in coronaviruses is not correlated with size or number of double-membrane vesicles under reduced-temperature growth conditions.

Positive-stranded viruses synthesize their RNA in membrane-bound organelles, but it is not clear how this benefits the virus or the host. For coronaviruses, these organelles take the form of double-membrane vesicles (DMVs) interconnected by a convoluted membrane network. We used electron microscopy to identify murine coronaviruses with mutations in nsp3 and nsp14 that replicated normally while producing only half the normal amount of DMVs under low-temperature growth conditions.

Direct observation of membrane insertion by enveloped virus matrix proteins by phosphate displacement.

Enveloped virus release is driven by poorly understood proteins that are functional analogs of the coat protein assemblies that mediate intracellular vesicle trafficking. We used differential electron density mapping to detect membrane integration by membrane-bending proteins from five virus families. This demonstrates that virus matrix proteins replace an unexpectedly large portion of the lipid content of the inner membrane face, a generalized feature likely to play a role in reshaping cellular membranes.

Association of acanthosis nigricans with risk of diabetes mellitus, and hormonal disturbances in arabian females: case-control study.

Objective: To aim of the present study is to determine the association of acanthosis nigricans(AN) with risk of diabetes mellitus, and hormonal levels in female subjects from the United Arab Emirates (UAE).

Design: Matched case-control study.

Setting: Tawam Teaching Hospital of Faculty of Medicine and Health Sciences.