Tracking the international spread of SARS-CoV-2 lineages B.1.1.7 and B.1.351/501Y-V2 with grinch.

Late in 2020, two genetically-distinct clusters of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with mutations of biological concern were reported, one in the United Kingdom and one in South Africa. Using a combination of data from routine surveillance, genomic sequencing and international travel we track the international dispersal of lineages B.1.

Jawbones Scaffold Constructed by TGF-β1 and BMP-2 Loaded Chitosan Microsphere Combining with Alg/HA/ICol for Osteogenic-Induced Differentiation.

Bone scaffolds based on multi-components are the leading trend to address the multifaceted prerequisites to repair various bone defects. Chitosan is the most useable biopolymer, having excellent biological applications. Therefore, in the present study, the chitosan microsphere was prepared by the ion-gel method; transforming growth factor β (TGF-β1) and bone morphogenetic protein 2 (BMP-2) were loaded onto it and then combined with alginate/hyaluronic acid/collagen (Alg/HA/ICol) to construct a jawbones scaffold.

Biological Sex As a Critical Variable in CD4 Effector T Cell Function in Preclinical Models of Multiple Sclerosis.

T cells play a pivotal role in maintaining adaptive immune responses against pathogens. However, misdirected T cell responses against self-tissues may lead to autoimmune disease. Biological sex has profound effects on T cell function and is an important determinant of disease incidence and severity in autoimmune diseases such as multiple sclerosis (MS).

Negative impact of the COVID-19 pandemic on routine childhood immunization: experience from Pakistan.

The COVID-19 pandemic has disrupted routine childhood immunization coverage for many vaccine-preventable diseases at the global, regional and national levels. In Pakistan, more than 40 million children were unable to receive measles vaccination and around 50 million children missed polio vaccination in 2020. Moreover, more than 36 million children did not receive vitamin A supplementation in 2020.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopathy (LGMDR6) is the least frequent and is considered an ultra-rare disease. Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether or not genetic or protein expression data could predict a disease's severity.

Detection of COVID-19 Using Transfer Learning and Grad-CAM Visualization on Indigenously Collected X-ray Dataset.

The COVID-19 outbreak began in December 2019 and has dreadfully affected our lives since then. More than three million lives have been engulfed by this newest member of the corona virus family. With the emergence of continuously mutating variants of this virus, it is still indispensable to successfully diagnose the virus at early stages.

Pharmacovigilance with Transformers: A Framework to Detect Adverse Drug Reactions Using BERT Fine-Tuned with FARM.

Adverse drug reactions (ADRs) are the undesirable effects associated with the use of a drug due to some pharmacological action of the drug. During the last few years, social media has become a popular platform where people discuss their health problems and, therefore, has become a popular source to share information related to ADR in the natural language. This paper presents an end-to-end system for modelling ADR detection from the given text by fine-tuning BERT with a highly modular Framework for Adapting Representation Models (FARM).

Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.

Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of two were updated.

Body composition is associated with operative and oncologic outcomes in the management of retroperitoneal and trunk soft tissue sarcoma.

Background: Sarcopenia, myosteatosis and obesity in cancer may confer negative clinical outcomes, but their prevalence and impact among patients with retroperitoneal and trunk soft tissue sarcoma have not been systematically studied. The aim of this study was to determine body composition among patients with retroperitoneal and trunk sarcoma, and assess impact on operative and oncologic outcomes.

Methods: Consecutive patients undergoing treatment with curative intent from 2009 to 2019 were studied.

A Modified Flotation Density Gradient Centrifugation Technique Improves the Semen Quality of Stallions with a High DNA Fragmentation Index.

Sperm DNA fragmentation compromises fertilization and early embryo development. Since spermatozoa lack the machinery to repair DNA damage, to improve the likelihood of establishing a healthy pregnancy, it is preferable to process ejaculates of stallions with a high sperm DNA fragmentation index (DFI) before artificial insemination or intracytoplasmic sperm injection. The aim of this study was to examine a modified flotation density gradient centrifugation (DGC) technique in which semen was diluted with a colloid solution (Opti-prep) to increase its density prior to layering between colloid layers of lower and higher density.

Genetic and evolutionary analysis of SARS-CoV-2 circulating in the region surrounding Islamabad, Pakistan.

Genomic epidemiology of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has provided global epidemiological insight into the COVID-19 pandemic since it began. Sequencing of the virus has been performed at scale, with many countries depositing data into open access repositories to enable in-depth global phylogenetic analysis. To contribute to these efforts, we established an Oxford Nanopore Technologies (ONT) sequencing capability at the National Institutes of Health (NIH), Pakistan.

Clustering of countries for COVID-19 cases based on disease prevalence, health systems and environmental indicators.

The coronavirus has a high basic reproduction number ( ) and has caused the global COVID-19 pandemic. Governments are implementing lockdowns that are leading to economic fallout in many countries. Policy makers can take better decisions if provided with the indicators connected with the disease spread.

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Background: Phosphoglycerate mutase (PGAM) deficiency is associated with a rare glycogen storage disease (glycogenosis type X) in humans caused by pathogenic variants in the PGAM2 gene. Several genes causing autosomal forms of glycogen storage disease (GSD) have been identified, involved in various forms of neuromuscular anomalies.

Methods: Targeted whole exome sequencing (WES) was performed on the DNA of single affected individual (IV-1) followed by Sanger sequencing confirmation of the identified variant in all available members of the family.

Impact of single amino acid substitution on the structure and function of TANK-binding kinase-1.

Tank-binding kinase 1 (TBK1) is a serine/threonine protein kinase involved in various signaling pathways and subsequently regulates cell proliferation, apoptosis, autophagy, antiviral and antitumor immunity. Dysfunction of TBK1 can cause many complex diseases, including autoimmunity, neurodegeneration, and cancer. This dysfunction of TBK1 may result from single amino acid substitutions and subsequent structural alterations.

Impact of COVID-19 on IoT Adoption in Healthcare, Smart Homes, Smart Buildings, Smart Cities, Transportation and Industrial IoT.

COVID-19 has disrupted normal life and has enforced a substantial change in the policies, priorities and activities of individuals, organisations and governments. These changes are proving to be a catalyst for technology and innovation. In this paper, we discuss the pandemic's potential impact on the adoption of the Internet of Things (IoT) in various broad sectors, namely healthcare, smart homes, smart buildings, smart cities, transportation and industrial IoT.

Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up.

Parkinson's disease (PD) is the second most common and progressive neurodegenerative disease globally, with major symptoms like bradykinesia, impaired posture, and tremor. Several genetic and environmental factors have been identified but elucidating the main factors have been challenging due to the disease's complex nature. Diagnosis, prognosis, and management of such diseases are challenging and require effective targeted attention in developing countries.

Detection of SARs-CoV-2 in wastewater using the existing environmental surveillance network: A potential supplementary system for monitoring COVID-19 transmission.

The ongoing COVID-19 pandemic is caused by SARs-CoV-2. The virus is transmitted from person to person through droplet infections i.e.

Identification of the Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.

Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these proteins are associated with multisystem disorders. In this study, we describe a severe ciliopathy disorder that segregates in an autosomal recessive manner in a nonconsanguineous Saudi family.

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.

DCBLD2 encodes discodin, CUB and LCCL domain-containing protein 2, a type-I transmembrane receptor that is involved in intracellular receptor signalling pathways and the regulation of cell growth. In this report, we describe a 5-year-old female who presented severe clinical features, including restrictive cardiomyopathy, developmental delay, spasticity and dysmorphic features. Trio-whole-exome sequencing and segregation analysis were performed to identify the genetic cause of the disease within the family.

Proliferation of SARS-CoV-2 B.1.1.7 Variant in Pakistan-A Short Surveillance Account.

The emergence of a more transmissible variant of SARS-CoV-2 (B1. 1.7) in the United Kingdom (UK) during late 2020 has raised major public health concerns.

Quantification and Trends of Antimicrobial Use in Commercial Broiler Chicken Production in Pakistan.

Antimicrobial resistance (AMR) is a global health challenge and antimicrobial use (AMU) in the livestock sector has been considered as one of the contributing factors towards the development of AMR in bacteria. This study summarizes the results of a point prevalence survey conducted to monitor farm-level AMU in commercial broiler chicken farms in Punjab and Khyber Pakhtunkhwa (KPK) provinces of Pakistan. A cross-sectional study was conducted to quantify AMU and to check seasonal variations of AMU in 12 commercial broiler chicken farms (six from each province) during the summer and winter seasons of the year 2020-2021.