Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.

The use of assistive technology to promote practical skills in persons with autism spectrum disorder and intellectual disabilities: A systematic review.

Persons with autism spectrum disorder (ASD) and/or intellectual disability (ID) have difficulties in planning, organising and coping with change, which impedes the learning of daily living skills (DLSs), social participation and self-management across different environmental settings. Assistive technologies (ATs) is a broad term encompassing devices and services designed to support individuals with disabilities, and if used in a self-controlled manner, they may contribute inclusion in all domains of participation. This comprehensive literature review aims to critically assess and unify existing research that investigates the use of assistive technology within the practical domain for individuals with ASD and/or ID.

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl.

Background: Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic defect during the development of the foregut, leading to abnormal recanalization. Complete duodenal atresia is usually symptomatic in the early neonatal period, while partial obstruction (web, stenosis) may have a late presentation and a more challenging diagnosis such as in our case.

Correlation of Fabrication Methods and Enhanced Wear Performance in Nanoporous Anodic Aluminum Oxide with Incorporated Molybdenum Disulfide (MoS) Nanomaterials.

Wear performance is integral to component longevity, minimizing industrial waste and excess energy costs in a wide variety of applications. Anodized aluminum oxide (AAO) has many beneficial properties leading to its wide use across industries as a surface treatment for many aluminum components, but the wear properties of the coating could be improved significantly. Here, we used an electrochemical method to incorporate molybdenum disulfide (MoS), a nanomaterial used as a dry lubricant, to modify alloys of aluminum during AAO preparation.

Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Introduction: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults.

Aim: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease.

Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients.

Multidisciplinary working group: key role for percutaneous endovascular AV fistula program. Point of view.

Chronic kidney disease is a progressive condition that affects more than 10% of the general population worldwide. Hemodialysis is the most common therapeutic option for kidney failure, which develops in around one out of 1000 individuals in the general population. Hemodialysis needs a vascular access to connect to the extracorporeal machine.

Risk behaviors and well-being among Egyptian and Roma adolescents in Albania during the COVID-19 pandemic: Vulnerability and resilience in a positive youth development perspective.

Introduction: Egyptian and Roma communities represent two of the most deprived and stigmatized ethnic minorities in Albania. However, research investigating vulnerability and well-being in youth from these communities is scant. Even less is known among Egyptian and Roma adolescents who dropped-out of school.

Early-Life Exposure to Lipopolysaccharide Induces Persistent Changes in Gene Expression Profiles in the Liver and Spleen of Female FVB/N Mice.

The objective of this study was to investigate how subcutaneous (sc) lipopolysaccharide (LPS) administration affects the gene expression profiles of insulin signaling as well as innate and adaptive immunity genes in mouse livers and spleens. FVB/N female mice were randomly assigned to one of two treatment groups at 5 weeks of age: (1) a six-week subcutaneous injection of saline at 11 μL/h (control-CON), or (2) a six-week subcutaneous injection of LPS from 0111:B4 at 0.1 μg/g body weight at 11 μL/h.

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life.

GWAS and genetic and phenotypic correlations of plasma metabolites with complete blood count traits in healthy young pigs reveal implications for pig immune response.

In this study estimated genetic and phenotypic correlations between fifteen complete blood count (CBC) traits and thirty-three heritable plasma metabolites in young healthy nursery pigs. In addition, it provided an opportunity to identify candidate genes associated with variation in metabolite concentration and their potential association with immune response, disease resilience, and production traits. The blood samples were collected from healthy young pigs and Nuclear Magnetic Resonance (NMR) was used to quantify plasma metabolites.

Exploration of plasma metabolite levels in healthy nursery pigs in response to environmental enrichment and disease resilience.

The purpose of this study was to explore plasma metabolite levels in young healthy pigs and their potential association with disease resilience and estimate genetic and phenotypic correlation with the change in lymphocyte concentration following disease challenge. Plasma samples were collected from 968 healthy nursery pigs over 15 batches at an average of 28 ± 3.23 d of age.

Electrodeposition and analysis of thick bismuth films.

Due to its unique physical and chemical properties, bismuth is an attractive candidate for a wide range of applications such as battery anodes, radiation shielding, and semiconductors, to name a few. This work presents the electrodeposition of mechanically stable and homogenous bismuth films at micron-scale thicknesses. A simple one-step electrodeposition process using either a pulse/reverse or direct current source yielded thick, homogenous, and mechanically stable bismuth films.

Pre-Dialysis B-Line Quantification at Lung Ultrasound Is a Useful Method for Evaluating the Dry Weight and Predicting the Risk of Intradialytic Hypotension.

Intradialytic hypotension (IDH) is a frequent and well-known complication of hemodialysis, occurring in about one third of patients. An integrated approach with different methods is needed to minimize IDH episodes and their complications. In this prospective observational study, recruited patients underwent a multiparametric evaluation of fluid status through a lung ultrasound (LUS) with the quantification of B-lines, a physical examination, blood pressure, NT-proBNP and chest X-rays.

Imputation to whole-genome sequence and its use in genome-wide association studies for pork colour traits in crossbred and purebred pigs.

Imputed whole-genome sequence (WGS) has been proposed to improve genome-wide association studies (GWAS), since all causative mutations responsible for phenotypic variation are expected to be present in the data. This approach was applied on a large number of purebred (PB) and crossbred (CB) pigs for 18 pork color traits to evaluate the impact of using imputed WGS relative to medium-density marker panels. The traits included Minolta A*, B*, and L* for fat (FCOL), quadriceps femoris muscle (QFCOL), thawed loin muscle (TMCOL), fresh ham gluteus medius (GMCOL), ham iliopsoas muscle (ICOL), and longissimus dorsi muscle on the fresh loin (FMCOL).

A novel pathogenic variant in gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in gene and characterized by impaired intellectual development, short stature, as well as facial dysmorphism. We describe a new DIJOS patient harboring a heterozygous, novel, and likely pathogenic variant in gene, which is the first case reported after Diets et al.`s publication, to the best of our knowledge.

Visualizing Grain Statistics in MOCVD WSe through Four-Dimensional Scanning Transmission Electron Microscopy.

Using four-dimensional scanning transmission electron microscopy, we demonstrate a method to visualize grains and grain boundaries in WSe grown by metal organic chemical vapor deposition (MOCVD) directly onto silicon dioxide. Despite the chemical purity and uniform thickness and texture of the MOCVD-grown WSe, we observe a high density of small grains that corresponds with the overall selenium deficiency we measure through ion beam analysis. Moreover, reconstruction of grain information permits the creation of orientation maps that demonstrate the nucleation mechanism for new layers-triangular domains with the same orientation as the layer underneath induces a tensile strain increasing the lattice parameter at these sites.

Combination of mouse prion protein with detoxified lipopolysaccharide triggers colon genes related to inflammatory, antibacterial, and apoptotic responses.

Previously we observed that bacterial lipopolysaccharide (LPS) was able to instantly convert recombinant murine prion protein (moPrP) from an alpha-helical to a beta-sheet enriched state. The objectives of this study were to evaluate the effects of a single in vitro administration of recombinant moPrP alone or combined with detoxified lipopolysaccharide (D-LPS) on innate immunity and antibacterial gene expression in the colon of male FVB/N mice, under an Ussing chamber system. Results showed that moPrP alone affected the expression of genes related to both toll-like receptor (TLR)- and nod-like receptor (NLR)-signaling as well as pro- and anti-inflammatory responses.

Relationship between indirect genetic effects for growth, environmental enrichment, coping style and sex with the serum metabolome profile of pigs.

Including Indirect Genetic Effects (IGE) in breeding programs to reduce aggression in group housed animals has been proposed. However, the effect of selection for IGE for growth on animal metabolism and physiology is unknown. The purpose of this study was twofold: (1) To investigate the effects of this new breeding method along with two housing (barren and straw), coping style (high and low resisters) and sex (female and castrated males) options on the metabolome profile of pigs.

Heritability and genetic correlations of plasma metabolites of pigs with production, resilience and carcass traits under natural polymicrobial disease challenge.

Metabolites in plasma of healthy nursery pigs were quantified using nuclear magnetic resonance. Heritabilities of metabolite concentration were estimated along with their phenotypic and genetic correlations with performance, resilience, and carcass traits in growing pigs exposed to a natural polymicrobial disease challenge. Variance components were estimated by GBLUP.

Egyptian and Roma Adolescents' Perspectives on Their Developmental Assets in Albania During the COVID-19 Pandemic.

This mixed-method study explores the accessibility of developmental assets among Egyptian and Roma minority youth in Albania during the COVID-19 pandemic. Six focus groups were conducted in August 2020 with Egyptian (n = 16) and Roma (n = 15) adolescents (14-20 years, M  = 16.71; SD  = 2.

Recyclable Graphene Sheets as a Growth Template for Crystalline ZnO Nanowires.

Recent advances in nanoscience have opened ways of recycling substrates for nanomaterial growth. Novel materials, such as atomically thin materials, are highly desirable for the recycling substrates. In this work, we report recycling of monolayer graphene as a growth template for synthesis of single crystalline ZnO nanowires.