Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Background: Genome diagnostics is considered gold standard diagnostics for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering and wounding of mucocutaneous tissues. EB is caused by pathogenic variants in genes encoding proteins of the dermo-epidermal junction. Accurate genetic diagnosis of EB is crucial for prognostication, counselling and precision-medicine.

Comparison of Low-Redshift Lyman-α Forest Observations to Hydrodynamical Simulations with Dark Photon Dark Matter.

Recent work has suggested that an additional ≲6.9  eV per baryon of heating in the intergalactic medium is needed to reconcile hydrodynamical simulations with Lyman-α forest absorption line widths at redshift z≃0.1.

High-throughput synthesis of CeO nanoparticles for transparent nanocomposites repelling Pseudomonas aeruginosa biofilms.

Preventing bacteria from adhering to material surfaces is an important technical problem and a major cause of infection. One of nature's defense strategies against bacterial colonization is based on the biohalogenation of signal substances that interfere with bacterial communication. Biohalogenation is catalyzed by haloperoxidases, a class of metal-dependent enzymes whose activity can be mimicked by ceria nanoparticles.

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Programs to screen for Familial hypercholesterolemia (FH) are conducted worldwide. In Western societies, these programs have been shown to be cost-effective with hit/detection rates of 1 in 217-250. Thus far, there is no published data on genetic FH in the Gulf region.

Acute hemolytic reaction by anti-Wra: Case report and review of the hemovigilance database of a tertiary care hospital.

Wra is the most common LIA in white population. The incidence of Wra antigen in Spanish population has been estimated to be 1 in 785 in blood donors, while anti-Wra was found in 2.7 % and 3.

Fifteen-Years Follow-Up in a Cohort of Children with Functional Gastrointestinal Disorders: Prevalence and Risk Factors to Develop Neuropsychiatric Disorders and Other Comorbidities.

Background: Functional gastrointestinal disorders (FGIDs) are chronic and recurrent disorders, which affect up to 23% of children and adolescents and represent 50% of gastroenterological accesses. The association between FGIDs diagnosed at paediatric age and the onset of migraine or headache and neuropsychiatric diseases in adolescence and adulthood is widely reported in the literature. However, there is still limited knowledge about the long-term prognosis and risk factors for neuropsychiatric pathologies and other comorbidities.

Precision management of pollination services to blueberry crops.

While the cultivated area of pollinator-dependent crops is increasing, pollinator availability is decreasing, leading to problems in many agroecosystems. For this reason, pollinator-dependent crop growers often rent beehives to support their pollination requirements to sustain fruit productivity. However, the efficiency of those pollination systems has not been extensively studied.

Zinc Oxide Nanoparticles Can Intervene in Radiation-Induced Senescence and Eradicate Residual Tumor Cells.

Despite recent advancements in tumor therapy, metastasis and tumor relapse remain major complications hindering the complete recovery of many cancer patients. Dormant tumor cells, which reside in the body, possess the ability to re-enter the cell cycle after therapy. This phenomenon has been attributed to therapy-induced senescence.

Onset and Duration of AbobotulinumtoxinA for Aesthetic Use in the Upper face: A Systematic Literature Review.

We sought to analyze the current literature regarding time to onset and duration of effect of abobotulinumtoxinA (aboBoNT-A, Dysport®/Azzalure®) for upper facial aesthetic indications. We conducted a systematic review of literature databases (PubMed/MEDLINE, Embase, Cochrane Library, and Google Scholar) to identify English-language publications relevant to: population (patients with aesthetic indications [including glabellar lines and wrinkles]); interventions (aboBoNT-A); comparators (no restrictions); outcomes (efficacy, including onset of action and duration of effect); and settings (clinical). A manual search of review paper bibliographies was performed.

Bees increase crop yield in an alleged pollinator-independent almond variety.

Wild pollinators are declining and the number of managed honey bee colonies is growing slower than agricultural demands for pollination. Because of these contrasting trends in pollinator demand and availability, breeding programs for many pollinator-dependent crops have focused on reducing the need for pollinators. Although numerous crop varieties are now available in the market with the label of pollinator-independent, the real dependence of these varieties on pollinators is mostly unknown.

Lyman-α Forest Constraints on Primordial Black Holes as Dark Matter.

The renewed interest in the possibility that primordial black holes (PBHs) may constitute a significant part of dark matter has provided motivation for revisiting old observational constraints, as well as developing new ones. We present new limits on the PBH abundance, from a comprehensive analysis of high-resolution high-redshift Lyman-α forest data. Poisson fluctuations in the PBH number density induce a small-scale power enhancement which departs from the standard cold dark matter prediction.

The Italian preparticipation evaluation programme: diagnostic yield, rate of disqualification and cost analysis.

Introduction: Italian law mandates that every competitive athlete must undergo annual preparticipation evaluation (PPE) to identify cardiovascular (CV) diseases that pose a risk of sudden death (SD) during sport and other conditions that may threaten the athlete's health. We investigated the diagnostic yield, rate of disqualification and costs of our PPE.

Methods: We included 5910 consecutive apparently healthy athletes (61% males, mean age 15±4 years) who underwent annual PPE performed by a sports medicine specialist.

Hemp-Straw Composites: Gluing Study and Multi-Physical Characterizations.

In order to meet the requirement of sustainable development, building materials are increasingly environmentally friendly. They can be partially or fully bio-based or recycled. This paper looks at the development of fully bio-based composites where agro-resources are valued as bio-based aggregates (hemp) and as binding materials (wheat).

Nanozymes in Nanofibrous Mats with Haloperoxidase-like Activity To Combat Biofouling.

Electrospun polymer mats are widely used in tissue engineering, wearable electronics, and water purification. However, in many environments, the polymer nanofibers prepared by electrospinning suffer from biofouling during long-term usage, resulting in persistent infections and device damage. Herein, we describe the fabrication of polymer mats with CeO nanorods that can prevent biofouling in an aqueous environment.

Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.

Background: Atherosclerosis starts in childhood but low-density lipoprotein cholesterol (LDL-C), a causal risk factor, is mostly studied and dealt with when clinical events have occurred. Women are usually affected later in life than men and are underdiagnosed, undertreated, and understudied in cardiovascular trials and research. This study aims at a better understanding of lifestyle and genetic factors that affect LDL-C in young women.

Enhancing the Spectral Hardening of Cosmic TeV Photons by Mixing with Axionlike Particles in the Magnetized Cosmic Web.

Large-scale extragalactic magnetic fields may induce conversions between very-high-energy photons and axionlike particles (ALPs), thereby shielding the photons from absorption on the extragalactic background light. However, in simplified "cell" models, used so far to represent extragalactic magnetic fields, this mechanism would be strongly suppressed by current astrophysical bounds. Here we consider a recent model of extragalactic magnetic fields obtained from large-scale cosmological simulations.

First Constraints on Fuzzy Dark Matter from Lyman-α Forest Data and Hydrodynamical Simulations.

We present constraints on the masses of extremely light bosons dubbed fuzzy dark matter (FDM) from Lyman-α forest data. Extremely light bosons with a de Broglie wavelength of ∼1  kpc have been suggested as dark matter candidates that may resolve some of the current small scale problems of the cold dark matter model. For the first time, we use hydrodynamical simulations to model the Lyman-α flux power spectrum in these models and compare it to the observed flux power spectrum from two different data sets: the XQ-100 and HIRES/MIKE quasar spectra samples.

Intrinsic superoxide dismutase activity of MnO nanoparticles enhances the magnetic resonance imaging contrast.

Superoxide radicals are associated with the development of many severe diseases, such as cancer. Under nonpathogenic conditions, the natural enzyme superoxide dismutase (SOD) regulates the intracellular superoxide concentrations, but nearly all tumor tissues show reduced SOD levels. Selective imaging in early progression stages remains a key requirement for efficient cancer diagnosis and treatment.

DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Background And Aims: Pseudomonas aeruginosa (Pa) infection in cystic fibrosis (CF) patients is associated with worse long-term pulmonary disease and shorter survival, and chronic Pa infection (CPA) is associated with reduced lung function, faster rate of lung decline, increased rates of exacerbations and shorter survival. By using exome sequencing and extreme phenotype design, it was recently shown that isoforms of dynactin 4 (DCTN4) may influence Pa infection in CF, leading to worse respiratory disease. The purpose of this study was to investigate the role of DCTN4 missense variants on Pa infection incidence, age at first Pa infection and chronic Pa infection incidence in a cohort of adult CF patients from a single centre.

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions.

Particle Dark Matter Searches Outside the Local Group.

If dark matter (DM) is composed by particles which are nongravitationally coupled to ordinary matter, their annihilations or decays in cosmic structures can result in detectable radiation. We show that the most powerful technique to detect a particle DM signal outside the Local Group is to study the angular cross-correlation of nongravitational signals with low-redshift gravitational probes. This method allows us to enhance the signal to noise from the regions of the Universe where the DM-induced emission is preferentially generated.

Characterization of SLC26A9 in patients with CF-like lung disease.

Diffuse bronchiectasis is a common problem in respiratory clinics. We hypothesized that mutations in the solute carrier 26A9 (SLC26A9) gene, encoding for a chloride (Cl(-)) transporter mainly expressed in lungs, may lead to defects in mucociliary clearance. We describe two missense variants in the SLC26A9 gene in heterozygote patients presenting with diffuse idiopathic bronchiectasis : p.

International consensus recommendations on the aesthetic usage of botulinum toxin type A (Speywood Unit)--Part II: Wrinkles on the middle and lower face, neck and chest.

Background: Azzalure® (Galderma SA), a newly approved European botulinum neurotoxin type A (BoNT-A), is derived from Dysport™ (Ipsen Ltd.), which has a 20-year history of product consistency and has been widely used for various aesthetic and therapeutic applications. Azzalure® and Dysport™ are collectively referred to as BoNT-A (Speywood Unit) after the unit of their activity, and are distinct from other commercial BoNT-A preparations.

International consensus recommendations on the aesthetic usage of botulinum toxin type A (Speywood Unit)--Part I: Upper facial wrinkles.

Background: Azzalure (Galderma SA) is a newly approved European botulinum neurotoxin type A (BoNT-A). It is derived from Dysport (Ipsen Pharma), which has a long history of usages in various applications. Azzalure and Dysport are collectively referred to as BoNT-A (Speywood Unit) and are different from other BoNT-A preparations.