A comparison of likelihood ratios calculated from surface DNA mixtures using MPS and CE Technologies.

This study evaluates the performance of analysing surface DNA samples using massively parallel sequencing (MPS) compared to traditional capillary electrophoresis (CE). A total of 30 samples were collected from various surfaces in an office environment and were analysed with CE and MPS. These were compared against 60 reference samples (office inhabitants).

An overview of autosomal STRs and identity SNPs in a Norwegian population using massively parallel sequencing.

In recent years, probabilistic genotyping software has been adapted for the analysis of massively parallel sequencing (MPS) forensic data. Likelihood ratios (LR) are based on allele frequencies selected from populations of interest. This study provides an outline of sequence-based (SB) allele frequencies for autosomal short tandem repeats (aSTRs) and identity single nucleotide polymorphisms (iSNPs) in 371 individuals from Southern Norway.

Platypnea-Orthodeoxia Syndrome: Two Case Reports.

Described for the first time in the middle of the last century, platypnea-orthodeoxia syndrome (POS) is an uncommon condition of positional dyspnea and hypoxemia, triggered by standing and relieved with recumbency. It is most commonly associated with right-to-left shunting through a patent foramen ovale (PFO) or atrial septal defect, however its pathophysiology is not entirely understood. As a rare syndrome, it remains underdiagnosed in many patients.

Pulmonary Embolism of COVID-19: A Year of Reflection.

Introduction The coronavirus disease 2019 (COVID-19) pandemic has brought about significant changes in the medical field. While primarily characterized as a respiratory syndrome, COVID-19 is also associated with vascular events, particularly thrombotic complications. These events can manifest as initial presentations or develop as complications during the course of the disease, predominantly driven by immune-mediated mechanisms.

Idiopathic Hypereosinophilic Syndrome: A Case Report.

Idiopathic hypereosinophilic syndrome is a rare condition characterized by persistent severe eosinophilia and organ damage without any apparent cause. A 20-year-old male patient with no significant medical history was admitted to the Emergency Department with retrosternal chest pain, fatigue and asthenia. EKG showed ST elevation I, II, III, aVF, V4-V6 and blood tests showed elevated troponin levels.

The Serious Impact of Comorbidities on Methemoglobinemia: A Case Report.

Methemoglobinemia is a rare, life-threatening condition that occurs when the body is exposed to oxidative stress. We present the case of a 72-year-old female with a past medical history of hypertension, obesity, dyslipidemia, and heart failure who was admitted to the emergency department with altered mental status and respiratory failure. After admission, we also identified an atrioventricular block 2:1, anemia, and skin discoloration.

MPSproto: An extension of EuroForMix to evaluate MPS-STR mixtures.

We have developed MPSproto as an extension of EuroForMix to improve handling of stutter artefacts and other typing errors that commonly occur in MPS-STR data. MPSproto implements two models for read depth: gamma and negative binomial. It differs from EuroForMix in that calibration is required before mixtures are interpreted.

A comprehensive characterization of MPS-STR stutter artefacts.

Interpretation of DNA evidence involving mixtures is challenging when alleles from minor contributors coincide with stutters from major contributors. To accommodate this, it is important to have a good understanding of stutter sequence formation trends. Here, multiple stutter types were characterized based on massively parallel sequencing (MPS) data from 387 single source samples, using the Verogen ForenSeq™ DNA Signature Prep kit.

Exploring Inflammatory Status in Febrile Seizures Associated with Urinary Tract Infections: A Two-Step Cluster Approach.

Background: Urinary tract infections (UTIs) are considered common facilitating factors, along with other infections, in triggering febrile seizures (FS). The main purpose of our study was to identify specific inflammatory patterns of UTI cases from other infections in a specific cluster, using a combination of inflammatory biomarkers to differentiate UTIs from other bacterial diseases triggering FS.

Method: This prospective study included a number of 136 patients with 197 distinct FS events, from patients hospitalized in the Pediatric Clinical Hospital Sibiu, among which 10.

Nanoparticle transfer biosensors for the non-invasive detection of SARS-CoV-2 antigens trapped in surgical face masks.

Detecting SARS-CoV-2 antigens in respiratory tract samples has become a widespread method for screening new SARS-CoV-2 infections. This requires a nasopharyngeal swab performed by a trained healthcare worker, which puts strain on saturated healthcare services. In this manuscript we describe a new approach for non-invasive COVID-19 diagnosis.

A Decision-Tree Approach to Assist in Forecasting the Outcomes of the Neonatal Brain Injury.

Neonatal brain injury or neonatal encephalopathy (NE) is a significant morbidity and mortality factor in preterm and full-term newborns. NE has an incidence in the range of 2.5 to 3.

Enhancing the Effects of Neurofeedback Training: The Motivational Value of the Reinforcers.

The brain activity that is measured by electroencephalography (EEG) can be modified through operant conditioning, specifically using neurofeedback (NF). NF has been applied to several disorders claiming that a change in the erratic brain activity would be accompanied by a reduction of the symptoms. However, the expected results are not always achieved.

Parallel CRISPR-Cas9 screens clarify impacts of p53 on screen performance.

CRISPR-Cas9 genome engineering has revolutionised high-throughput functional genomic screens. However, recent work has raised concerns regarding the performance of CRISPR-Cas9 screens using wild-type human cells due to a p53-mediated DNA damage response (DDR) limiting the efficiency of generating viable edited cells. To directly assess the impact of cellular p53 status on CRISPR-Cas9 screen performance, we carried out parallel CRISPR-Cas9 screens in wild-type and knockout human retinal pigment epithelial cells using a focused dual guide RNA library targeting 852 DDR-associated genes.

Impact of Active Video Games on Body Mass Index in Children and Adolescents: Systematic Review and Meta-Analysis Evaluating the Quality of Primary Studies.

Objective: To study the impact of active video games on Body Mass Index (BMI) in children and adolescents.

Design And Methods: A systematic review and meta-analysis. Data were pooled in meta-analysis using the method of random effects or fixed effects, as appropriate, after examination of statistical heterogeneity.

Cardiovascular risk stratification in axial spondyloarthritis: carotid ultrasound is more sensitive than coronary artery calcification score to detect high-cardiovascular risk axial spondyloarthritis patients.

Objectives: To determine the ability of Coronary Artery Calcification Score (CACS) and carotid ultrasonography (US) to detect high cardiovascular (CV) risk axial spondyloarthritis (ax-SpA) patients.

Methods: CACS and carotid plaques were assessed in 66 consecutive ax-SpA patients (51 fulfilling criteria for ankylosing spondylitis and 15 for non-radiological ax-SpA) without history of CV events. The Systematic Coronary Risk Evaluation (SCORE) calculated using total cholesterol (TC-SCORE) was assessed in 64 patients without diabetes mellitus or chronic kidney disease.

Voice Improvement in Patients with Functional Dysphonia Treated with the Proprioceptive-Elastic (PROEL) Method.

The objective of the study was to analyze the outcome of the proprioceptive-elastic (PROEL) voice therapy method in patients with functional dysphonia (FD). Fifty-two patients with FD were involved in the study; they were composed of three subgroups of patients with (1) FD without glottal insufficiency (n = 28), (2) FD and glottal insufficiency (n = 9), and (3) FD, glottal insufficiency, and vocal nodules (n = 15). A multidimensional assessment protocol including videolaryngostroboscopy; maximum phonation time; perceptual evaluation of dysphonia with the Grade, Instability, Roughness, Breathiness, Asthenia, and Strain (GIRBAS) scale; and 10-item version of the Voice Handicap Index was conducted before and after 15 sessions of voice therapy.

Offending Behavior, Drug Use, and Mental Health Among Foreign-Born versus U.S. Born Latino Criminal Justice Clients.

Little is known about the offending behavior and recidivism factors of Latinos by nativity (U.S. born, foreign-born).

Retinal ganglion cell numbers and delayed retinal ganglion cell death in the P23H rat retina.

The P23H-1 rat strain carries a rhodopsin mutation frequently found in retinitis pigmentosa patients. We investigated the progressive degeneration of the inner retina in this strain, focussing on retinal ganglion cells (RGCs) fate. Our data show that photoreceptor death commences in the ventral retina, spreading to the whole retina as the rat ages.

Giant cell arteritis: epidemiology, diagnosis, and management.

Giant cell arteritis (GCA), also called temporal arteritis, is a vasculitis that affects large and middle-sized blood vessels--with predisposition to the involvement of cranial arteries derived from the carotid artery--in individuals older than 50 years of age. Familial aggregation of GCA has been observed. Incidence of GCA is higher in white individuals than those of other ethnicities, particularly those of Scandinavian background.

Medical management of polymyalgia rheumatica.

Importance Of The Field: Polymyalgia rheumatica (PMR) is a relatively frequent condition in individuals older than 50 who originate from Western countries. Corticosteroids constitute the cornerstone therapy in the management of patients with PMR.

Areas Covered In This Review: This review summarizes the current literature on clinical clues for the diagnosis of PMR, conditions mimicking PMR, relapses in the setting of PMR and the main therapeutic strategies.

Multiple receptor tyrosine kinases are expressed in adult rat retinal ganglion cells as revealed by single-cell degenerate primer polymerase chain reaction.

Background: To achieve a better understanding of the repertoire of receptor tyrosine kinases (RTKs) in adult retinal ganglion cells (RGCs) we performed polymerase chain reaction (PCR), using degenerate primers directed towards conserved sequences in the tyrosine kinase domain, on cDNA from isolated single RGCs univocally identified by retrograde tracing from the superior colliculi.

Results: All the PCR-amplified fragments of the expected sizes were sequenced, and 25% of them contained a tyrosine kinase domain. These were: Axl, Csf-1R, Eph A4, Pdgfrbeta, Ptk7, Ret, Ros, Sky, TrkB, TrkC, Vegfr-2, and Vegfr-3.

A retinoic acid receptor beta agonist (CD2019) overcomes inhibition of axonal outgrowth via phosphoinositide 3-kinase signalling in the injured adult spinal cord.

After spinal cord injury in the adult mammal, axons do not normally regrow and this commonly leads to paralysis. Retinoic acid (RA) can stimulate neurite outgrowth in vitro of both the embryonic central and peripheral nervous system, via activation of the retinoic acid receptor (RAR) beta2. We show here that regions of the adult CNS, including the cerebellum and cerebral cortex, express RARbeta2.

Time-course of the retinal nerve fibre layer degeneration after complete intra-orbital optic nerve transection or crush: a comparative study.

We examined qualitatively and quantitatively in adult rat retinas the temporal degeneration of the nerve fibre layer after intra-orbital optic nerve transection (IONT) or crush (IONC). Retinal ganglion cell (RGC) axons were identified by their heavy neurofilament subunit phosphorylated isoform (pNFH) expression. Optic nerve injury induces a progressive axonal degeneration which after IONT proceeds mainly with abnormal pNFH-accumulations in RCG axons and after IONC in RGCs somas and dendrites.