Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin.

Methods: Linkage in two families (A and B) was established to on chromosome 4q27, in family C to on chromosome 14q32.1, and in family D to on chromosome 12q21.

Noninvasive assessment of subclinical atherosclerosis in persons with symptoms of depression.

Background And Aims: Depression is a mood disorder characterized by persistent feelings of loss of interest along with a cluster of clinical symptoms. It is a significant public health concern affecting 350 million people worldwide. Depression has an association with increased risk of cardiovascular disease.

Performance Evaluation of Membrane-Based Septic Tank and Its Reuse Potential for Irrigating Crops.

  Membrane technology, being the most emerging wastewater treatment option, has gained substantial importance with the massive objective of the reuse potential of wastewater. Keeping this in view, the present study was conducted with the rationale to evaluate the performance efficiency of membrane-based septic tank (MBST), and its reuse perspective for irrigating crops. The septic tank was designed by submerging a woven fiber microfiltration membrane module to treat domestic wastewater.

Anti-bacterial chitosan/zinc phthalocyanine fibers supported metallic and bimetallic nanoparticles for the removal of organic pollutants.

In this report, we prepared chitosan (CS) membrane, CS/zinc phthalocyanine (ZnPc-CS) composite fibers and pellets as support for the synthesis of zero valent metal nanoparticles. The composite fibers and pellets of ZnPc-CS were prepared by simply dispersing 5wt% of ZnPc in CS solution. ZnPc-CS composite were applied as economical host material for the development of metallic and bimetallic zero valent nanoparticles.

Anticancer, antibacterial and pollutant degradation potential of silver nanoparticles from Hyphaene thebaica.

We present here the biosynthesis of AgNps from the aqueous extract of H. thebaica fruit, and monitored through UV-Vis spectrophotometer. The functional group were characterized through ATR-FTIR spectroscopy, the particle size, morphologies and elemental composition of the nanoparticles were investigated by using TEM, FESEM and EDS respectively.

OWL2 benchmarking for the evaluation of knowledge based systems.

OWL2 semantics are becoming increasingly popular for the real domain applications like Gene engineering and health MIS. The present work identifies the research gap that negligible attention has been paid to the performance evaluation of Knowledge Base Systems (KBS) using OWL2 semantics. To fulfil this identified research gap, an OWL2 benchmark for the evaluation of KBS is proposed.

Thin layer chitosan-coated cellulose filter paper as substrate for immobilization of catalytic cobalt nanoparticles.

A facile approach utilizing synthesis of cobalt nanoparticles in green polymers of chitosan (CS) coating layer on high surface area cellulose microfibers of filter paper (CFP) is described for the catalytic reduction of nitrophenol and an organic dye using NaBH. Simple steps of CFP coating with 1wt% CS aqueous solution followed by Co ions adsorption from 0.2M CoCl aqueous solution were carried out to prepare pre-catalytic strips.

Effect of baffles on the hydraulic performance of sediment retention ponds.

An investigation of the effect of baffles on retention pond performance using a physical model of an existing sediment retention pond is presented. Analysis of residence time (RTD curves) was used to compare the hydraulic performance of different arrangements of baffles in the pond. Five different arrangements for the design of baffles were studied.

Novel combination of zero-valent Cu and Ag nanoparticles @ cellulose acetate nanocomposite for the reduction of 4-nitro phenol.

A very simple and low-cost procedure has been adopted to synthesize efficient copper (Cu), silver (Ag) and copper-silver (Cu-Ag) mixed nanoparticles on the surface of pure cellulose acetate (CA) and cellulose acetate-copper oxide nanocomposite (CA-CuO). All nanoparticles loaded onto CA and CA-CuO presented excellent catalytic ability, but Cu-Ag nanoparticles loaded onto CA-CuO (Cu-Ag/CA-CuO) exhibited outstanding catalytic efficiency to convert 4-nitrophenol (4-NP) into 4-aminophenol (4-AP) in the presence of NaBH. Additionally, the Cu-Ag/CA-CuO can be easily recovered by removing the sheet from the reaction media, and can be recycled several times, maintaining high catalytic ability for four cycles.

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Background: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet.

Fatal bacterial septicemia in a bottlenose dolphin Tursiops truncatus caused by Streptococcus iniae.

A captive 8 yr old male bottlenose dolphin Tursiops truncatus succumbed to septicemia with multisystemic inflammation including suppurative enteritis, encephalitis, and pneumonia with chronic pancreatitis. A pure culture of beta-hemolytic, catalase- and oxidase-negative, Gram-positive cocci was isolated from the hilar lymph nodes and pancreas. The isolate was identified by 16S rDNA sequencing as Streptococcus iniae.

Early Minocycline and Late FK506 Treatment Improves Survival and Alleviates Neuroinflammation, Neurodegeneration, and Behavioral Deficits in Prion-Infected Hamsters.

Prion infections of the central nervous system (CNS) are characterized by initial reactive gliosis followed by overt neuronal death. Gliosis is likely to be caused initially by the deposition of misfolded, proteinase K-resistant, isoforms (termed PrP) of the normal cellular prion protein (PrP) in the brain. Proinflammatory cytokines and chemokines released by PrP-activated glia and stressed neurons may also contribute directly or indirectly to the disease development by enhancing gliosis and inducing neurotoxicity.

Functional analysis of the ABCs of eye color in Helicoverpa armigera with CRISPR/Cas9-induced mutations.

Many insect pigments are localized in subcellular pigment granules, and transport of pigment precursors from the cytoplasm is accomplished by ABC proteins. Drosophila melanogaster has three half-transporter genes (white, scarlet, and brown, all affecting eye pigments) and Bombyx mori has a fourth (ok). The White, Brown, Scarlet and Ok proteins each have one transmembrane and one cytoplasmic domain and they heterodimerize to form functional transporters with different substrate specificities.

Synthesis and catalytic properties of silver nanoparticles supported on porous cellulose acetate sheets and wet-spun fibers.

Cellulose acetate fibers (CA), and sheets (CA) were prepared by wet-spinning, and doctor blade methods, respectively. For CA, the CA-acetone solution was pushed through narrow orifice of the medical syringe into a coagulating bath containing water. The same polymer solution was used for the fabrication of CA.

Unb-DPC: Identify mycobacterial membrane protein types by incorporating un-biased dipeptide composition into Chou's general PseAAC.

This study investigates an efficient and accurate computational method for predicating mycobacterial membrane protein. Mycobacterium is a pathogenic bacterium which is the causative agent of tuberculosis and leprosy. The existing feature encoding algorithms for protein sequence representation such as composition and translation, and split amino acid composition cannot suitably express the mycobacterium membrane protein and their types due to biasness among different types.

Rotational Mal-Alignment after Reamed Intramedullary Nailing for tibial shaft fracture.

Intra-medullary (IM) nailing is standard of care for unstable tibial shaft fractures. Malrotation is very common but it is under-recognised, inpart because of variation in normal anatomy and partly due to difficulty in accurately assessing rotation. This study was planned to evaluate the frequency of rotational mal-alignment after reamed tibia IMnailing.

Phenotypic and Genotypic Resistance of Salmonella Isolates from Healthy and Diseased Pigs in China During 2008-2015.

The antimicrobial resistance of Salmonella strains is rapidly increasing worldwide, which poses significant threats to animal and public health. In this study, a total of 249 porcine Salmonella isolates collected in China during 2008-2015 were examined, including 155 clinical isolates from diseased pigs and 94 nonclinical isolates from healthy pigs. Based on the minimum inhibitory concentration of seven antimicrobial agents, 96.

Layered double hydroxide of Cd-Al/C for the Mineralization and De-coloration of Dyes in Solar and Visible Light Exposure.

Cd-Al/C layered double hydroxide (Cd-Al/C-LDH) and Cd-Sb/C nanocatalyst are reported here for the de-coloration and mineralization of organic dyes. These catalysts were largely characterized by FESEM, EDS, XRD, FTIR, XPS, PL and DRS. The diffuse reflectance data showed a band gap at 2.

Mechanisms Underlying Anti-hyperalgesic Properties of Kaempferol-3,7- di-O-α-L-rhamnopyranoside Isolated from Dryopteris cycadina.

Background: The present study was designed to evaluate the anti-hyperalgesic effect of kaempferol-3,7-di-O-α-L-rhamnopyranoside isolated from the ethyl acetate soluble part of Dryopteris cycadina. Pretreatment of the compound at the doses of 2.5, 5, and 10 mg/kg caused a significant reduction in abdominal constrictions in acetic acid-induced writhing test with maximum effect of 63.

Nickel nanoparticles-chitosan composite coated cellulose filter paper: An efficient and easily recoverable dip-catalyst for pollutants degradation.

In this report, we used cellulose filter paper (FP) as high surface area catalyst supporting green substrate for the synthesis of nickel (Ni) nanoparticles in thin chitosan (CS) coating layer and their easy separation was demonstrated for next use. In this work, FP was coated with a 1 wt% CS solution onto cellulose FP to prepare CS-FP as an economical and environment friendly host material. CS-FP was put into 0.

Zirconia-based catalyst for the one-pot synthesis of coumarin through Pechmann reaction.

Coumarins play an important role in drug development with diverse biological applications. Herein, we present the synthesis of coumarin through Pechmann reaction by using zirconia-based heterogeneous catalysts (ZrO2-TiO2, ZrO2-ZnO, and ZrO2/cellulose) in a solvent-free condition at room temperature. ZrO2-TiO2, ZrO2-ZnO, and ZrO2/cellulose were identified through spectroscopic techniques such as FESEM, X-ray, EDS, XPS, and FT-IR.

Parkin Overexpression Ameliorates PrP106-126-Induced Neurotoxicity via Enhanced Autophagy in N2a Cells.

Transmissible spongiform encephalopathies (TSEs) are caused by the accumulation of the abnormal prion protein scrapie (PrP). Prion protein aggregation, misfolding, and cytotoxicity in the brain are the major causes of neuronal dysfunction and ultimate neurodegeneration in all TSEs. Parkin, an E3 ubiquitin ligase, has been studied extensively in all major protein misfolding aggregating diseases, especially Parkinson's disease and Alzheimer's disease, but the role of parkin in TSEs remains unknown.

Polymorphism analysis of prion protein gene in 11 Pakistani goat breeds.

The association between caprine PrP gene polymorphisms and its susceptibility to scrapie has been investigated in current years. As the ORF of the PrP gene is extremely erratic in different breeds of goats, we studied the PrP gene polymorphisms in 80 goats which belong to 11 Pakistani indigenous goat breeds from all provinces of Pakistan. A total of 6 distinct polymorphic sites (one novel) with amino acid substitutions were identified in the PrP gene which includes 126 (A -> G), 304 (G -> T), 379 (A -> G), 414 (C -> T), 428 (A -> G) and 718 (C -> T).