Mutations in identified in families with congenital cataracts.

Purpose: This study was designed to identify the pathogenic variants in three consanguineous families with congenital cataracts segregating as a recessive trait.

Methods: Consanguineous families with multiple individuals manifesting congenital cataracts were ascertained. All participating members underwent an ophthalmic examination.

Molecular identification of Toxoplasma gondii in domesticated and broiler chickens (Gallus domesticus) that possibly augment the pool of human toxoplasmosis.

Toxoplasma gondii (T. gondii) is a protozoan parasite that infects all warm-blooded animals including domesticated birds and humans. Birds normally get infected by ground feeding and human beings contract the disease by consumption of undercooked chicken meat.

High-density SNP map facilitates fine mapping of QTLs and candidate genes discovery for Aspergillus flavus resistance in peanut (Arachis hypogaea).

Two novel resistant QTLs mapped and candidate genes identified for Aspergillus flavus resistance in cultivated peanut using SLAF-seq. Aflatoxin contamination in peanuts caused by Aspergillus flavus is a serious food safety issue for human health around the world. Host plant resistance to fungal infection and reduction in aflatoxin are crucial for mitigating this problem.

Stabilization of Various Zero-Valent Metal Nanoparticles on a Superabsorbent Polymer for the Removal of Dyes, Nitrophenol, and Pathogenic Bacteria.

In this work, a superabsorbent polymer, sodium polyacrylate, also known as water ball (WB), loaded with Ni, Cu, and Ag zero-valent metal nanoparticles (MNPs) was applied for environmental remediation. WBs loaded with Ni, Cu, and Ag NPs were evaluated for their catalytic performance against the reduction of 4-nitrophenol (4-NP) to 4-aminophenol (4-AP) and decolorization of methyl orange (MO), Congo red (CR), and methylene blue (MB) dyes. The apparent rate constants ( ) for the reduction of 4-NP to 4-AP in the presence of Ni, Cu, and Ag NPs were 2.

Synthesis of AgNPs coated with secondary metabolites of Acacia nilotica: An efficient antimicrobial and detoxification agent for environmental toxic organic pollutants.

This study concentrates on biosynthesis of Silver Nanoparticles (AgNPs) from stem extract of Acacia nilotica (A. nilotica). The reaction was completed at a temperature ~40-45 °C and time duration of 5 h.

Ectopic Expression of (GOLDEN2-like Transcription Factor) in Confers Dual Resistance to Fungal and Bacterial Pathogens.

GOLDEN2-LIKE (GLK) is a member of the myeloblastosis (MYB) family transcription factor and it plays an important role in the regulation of plastid development and stress tolerance. In this study, a gene named was identified from a cultivated peanut showing down-regulation in response to low calcium with a complete open reading frame (ORF) of 1212 bp. The has 99.

Novel mutations in identified in familial cases of primary congenital glaucoma.

Purpose: Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder caused by developmental defects in the anterior chamber and trabecular meshwork. This disease is an important cause of childhood blindness. In this study, we aim to identify the genetic determinants of PCG in three consanguineous families of Pakistani descent.

Cellulose acetate-Ce/Zr@Cu catalyst for the degradation of organic pollutant.

In the present work, Cu nanoparticles were stabilized on ceria/zirconia (Ce/Zr@Cu), cellulose acetate (CA@Cu), and a thin film of cellulose acetate embedded ceria/zirconia (CA-Ce/Zr) designated as CA-Ce/Zr@Cu. In the presence of a reducing agent, all the catalysts revealed excellent catalytic efficiency in aqueous media for the reduction of 4-nitrophenol (4-NP) to 4-aminophenol (4-AP) and degradation of cationic dyes methylene blue (MB) and rhodamine B (RB). Different order of equations were applied to determine the adjacent R value and rate constant.

Exploring Metabolic Consequences of and Dysregulation in Hepatocellular Carcinoma by Network Reconstruction.

Purpose: Hepatocellular carcinoma (HCC) is the fourth commonest cause of cancer-related mortality; it is associated with various genetic alterations, some involved in metabolic reprogramming. This study aimed to explore the potential metabolic impact of () and dysregulation through the reconstruction of a network that integrates information from the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, Human Metabolome Database (HMDB) and Human Protein Atlas (HPA).

Methods And Results: Existing literature was used to determine the roles of and in HCC.

Ablative Therapy for Unresectable Intrahepatic Cholangiocarcinoma: A Systematic Review and Meta-Analysis.

Background: Intrahepatic cholangiocarcinoma (iCCA) is usually a fatal malignancy with rising incidence globally. Surgical resection currently remains the only curative treatment. However, as only a minority of iCCA is amenable to resection, new therapeutic modalities are needed.

Copper-induced oxidative stress, initiation of antioxidants and phytoremediation potential of flax (Linum usitatissimum L.) seedlings grown under the mixing of two different soils of China.

Flax (Linum usitatissimum L.), one of the oldest cultivated crops, continues to be widely grown for oil, fiber and food. Furthermore, the plants show a metal tolerance dependent on species so is ideal for research.

Adaptive Filtering on GPS-Aided MEMS-IMU for Optimal Estimation of Ground Vehicle Trajectory.

Fusion of the Global Positioning System (GPS) and Inertial Navigation System (INS) for navigation of ground vehicles is an extensively researched topic for military and civilian applications. Micro-electro-mechanical-systems-based inertial measurement units (MEMS-IMU) are being widely used in numerous commercial applications due to their low cost; however, they are characterized by relatively poor accuracy when compared with more expensive counterparts. With a sudden boom in research and development of autonomous navigation technology for consumer vehicles, the need to enhance estimation accuracy and reliability has become critical, while aiming to deliver a cost-effective solution.

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.

Purpose: To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family.

Methods: All participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were ascertained for affected individuals that have not been operated for the removal of the cataractous lens.

Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies.

The ocular lens serves as an excellent system to investigate the intricate details of development and differentiation. Generation of lentoid bodies or lens-like structures using pluripotent stem cells is important for understanding the processes critical for lens morphogenesis and the mechanism of cataractogenesis. We previously reported the generation of peripheral blood mononuclear cell (PBMC)-originated, induced pluripotent stem cells (iPSCs).

Three-dimensional electron microscopy analysis reveals endopolygeny-like nuclear architecture segregation in Plasmodium oocyst development.

The genus Plasmodium is a unicellular eukaryotic parasite that is the causative agent of malaria, which is transmitted by Anopheline mosquito. There are a total of three developmental stages in the production of haploid parasites in the Plasmodium life cycle: the oocyst stage in mosquitoes and the liver and blood stages in mammalian hosts. The Plasmodium oocyst stage plays an important role in the production of the first generation of haploid parasites.

Antimicrobial potentials of medicinal plant's extract and their derived silver nanoparticles: A focus on honey bee pathogen.

Infectious (or Communicable) diseases are not only the past but also the present problem in developing as well as developed countries. It is caused by various pathogenic microbes like fungi, bacteria, parasites and virus etc. The medicinal plants and nano-silver have been used against the pathogenic microbes.

pharmacological investigation of and using animal models.

Experimental based evidence suggests that most of the medicinal plants possess wide-ranging pharmacological and biological activities that may possibly use in treatment of inflammation-related diseases. The current study was aimed to explore the acute toxicity, analgesic, sedative and antipyretic activities of and in mices. In experimental models were used in this study.

Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.

The interleukin (IL)-12/interferon(IFN)γ axis plays an important role in the control of mycobacterial diseases as demonstrated by the increased susceptibility to mycobacterial species in patients with an inborn error of the IL-12-dependent IFNγ immunity. Here, we report a novel mutation in the IL-12Rβ1 gene in a female Pakistani patient who was born in a consanguineous marriage and developed severe bacille Calmette-Guérin (BCG) infection and recurrent tuberculosis. After reviewing the patient's clinical records, she was investigated for IL-12/IFNγ defects using enzyme-linked immunosorbent assay (ELISA), flow cytometry, and DNA genetic Sanger sequencing.

Preclinical Development and Assessment of Viral Vectors Expressing a Fusion Antigen of Plasmodium falciparum LSA1 and LSAP2 for Efficacy against Liver-Stage Malaria.

Despite promising progress in malaria vaccine development in recent years, an efficacious subunit vaccine against remains to be licensed and deployed. Cell-mediated protection from liver-stage malaria relies on a sufficient number of antigen-specific T cells reaching the liver during the time that parasites are present. A single vaccine expressing two antigens could potentially increase both the size and breadth of the antigen-specific response while halving vaccine production costs.

Morpho-physiological traits, gaseous exchange attributes, and phytoremediation potential of jute (Corchorus capsularis L.) grown in different concentrations of copper-contaminated soil.

Jute (Corchorus capsularis L.) is the most commonly used natural fiber as reinforcement in green composites and, due to its huge biomass, deep rooting system, and metal tolerance in stressed environments, it is an excellent candidate for the phytoremediation of different heavy metals. Therefore, the present study was carried out to examine the growth, antioxidant capacity, gaseous exchange attributes, and phytoremediation potential of C.

Balloon kyphoplasty for cervical spine metastasis: a technical note.

We report a simple technique of cervical spine balloon kyphoplasty performed for painful osteolytic metastatic disease in two patients.

Targeted mutagenesis of BnTT8 homologs controls yellow seed coat development for effective oil production in Brassica napus L.

Yellow seed is a desirable trait with great potential for improving seed quality in Brassica crops. Unfortunately, no natural or induced yellow seed germplasms have been found in Brassica napus, an important oil crop, which likely reflects its genome complexity and the difficulty of the simultaneous random mutagenesis of multiple gene copies with functional redundancy. Here, we demonstrate the first application of CRISPR/Cas9 for creating yellow-seeded mutants in rapeseed.

Relative importance of gene effects for nitrogen-use efficiency in popcorn.

The objective of this study was to evaluate the effects of additive and non-additive genes on the efficiency of nitrogen (N) use and N responsiveness in inbred popcorn lines. The parents, hybrids and reciprocal crosses were evaluated in a 10x10 triple lattice design at two sites and two levels of N availability. To establish different N levels in the two experiments, fertilization was carried out at sowing, according to soil analysis reports.