Critical Steps in Shotgun Metagenomics-Based Diagnosis of Bloodstream Infections Using Nanopore Sequencing.

Shotgun metagenomics offers a broad detection of pathogens for rapid blood stream infection of pathogens but struggles with often low numbers of pathogens combined with high levels of human background DNA in clinical samples. This study aimed to develop a shotgun metagenomics protocol using blood spiked with various bacteria and to assess bacterial DNA extraction efficiency with human DNA depletion. The Blood Pathogen Kit (Molzym) was used to extract DNA from EDTA-whole blood (WB) and plasma samples, using contrived blood specimens spiked with bacteria for shotgun metagenomics diagnostics via Oxford Nanopore sequencing and PCR-based library preparation.

Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.

Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).

Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.

Upregulated PCAT-1 predicts poor prognosis and reduced immune cell infiltration in head and neck squamous cell carcinoma through the miR-145-5p / FSCN-1 axis.

Background: LncRNA PCAT-1 is known to promote cancer proliferation, invasion, and metastasis. However, its significance in HNSCC is not fully understood. This research investigates how the PCAT-1 / miR-145-5p / FSCN-1 axis promote HNSCC.

Three-Year Follow-up After Antiviral Treatment in New-Onset Type 1 Diabetes: Results From the Diabetes Virus Detection and Intervention Trial.

Objective: In the Diabetes Virus Detection and Intervention trial, antiviral treatment with pleconaril and ribavirin decreased the decline, compared with placebo, in endogenous C-peptide 1 year after diagnosis of type 1 diabetes (T1D) in children and adolescents. This article reports the results 2 and 3 years after diagnosis.

Research Design And Methods: This was a multicenter, randomized, placebo-controlled (1:1) trial of 96 children and adolescents aged 6-15.

Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.

Background And Aims: Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic disorders that remain underdiagnosed and undertreated, due in part to the cost of screening. The aim of this study was to design and implement a whole gene targeted NGS panel for the molecular diagnosis of FH and statin intolerance with an emphasis on high quality variant calling, including copy number analysis.

Methods: A whole gene panel for hybridisation-based short read NGS was designed for the dominant FH-genes low density lipoprotein receptor (), apolipoprotein B (APOB), proproteinconvertas subtilisin/kexin type 9 (PCSK9), apolipoprotein E (APOE) and the recessive FH-genes low density lipoprotein receptor adaptor protein 1 (), ATP binding cassette subfamily member 5/8 (ABCG5/8) and lipase A, lysosomal acid type (), as well as solute carrier organic anion transporter family member 1B1 (), not an FH gene but linked to statin intolerance.

Corrigendum to: "High prevalence of hepatitis E and rat hepatitis E viruses in wastewater in Gothenburg, Sweden" [One Health, volume 19, article number 100882].

[This corrects the article DOI: 10.1016/j.onehlt.

The 'MOAHLFA(P) Index': An Attempt to Standardise a Widely Used Array of Descriptors of Patch-Tested Patients.

Background: Since its inception in 1980, the MOHL index (% patients who are male, have occupational, hand, or leg dermatitis, respectively) and its later evolutions until the presently used MOAHLFA(P) index (adding % patients with atopic dermatitis, face dermatitis, age 40+ years and positive reaction(s) to ≥ 1 baseline series allergen) have been intended to convey important demographic and clinical information on the patients patch tested in a certain area and time, aiding the interpretation of the observed spectrum of sensitisation.

Objectives: To examine the current usage of the MOAHLFA(P) index and suggest consolidated definitions for its single items.

Methods: A title/abstract search in Medline identified publications mentioning the evolving acronyms.

Assessing the scientific integrity of the collected work of one author or author-group.

Objective: No published methods for research integrity review include both statistical techniques applied to groups of randomised trials and individual assessment of papers. We propose a method based on practical experience of investigating data integrity across the collected papers of one author or author-group.

Study Design And Setting: We report our approach to investigating the collected papers of an author or author-group suspected of academic misconduct.

Redosing with Intralymphatic GAD-Alum in the Treatment of Type 1 Diabetes: The DIAGNODE-B Pilot Trial.

Immunotherapies aimed at preserving residual beta cell function in type 1 diabetes have been successful, although the effect has been limited, or raised safety concerns. Transient effects often observed may necessitate redosing to prolong the effect, although this is not always feasible or safe. Treatment with intralymphatic GAD-alum has been shown to be tolerable and safe in persons with type 1 diabetes and has shown significant efficacy to preserve C-peptide with associated clinical benefit in individuals with the human leukocyte antigen DR3DQ2 haplotype.

The α-synuclein seed amplification assay: Interpreting a test of Parkinson's pathology.

The α-synuclein seed amplification assay (αSyn-SAA) sensitively detects Lewy pathology, the amyloid state of α-synuclein, in the cerebrospinal fluid (CSF) of patients with Parkinson's disease (PD). The αSyn-SAA harnesses the physics of seeding, whereby a superconcentrated solution of recombinant α-synuclein lowers the thermodynamic threshold (nucleation barrier) for aggregated α-synuclein to act as a nucleation catalyst ("seed") to trigger the precipitation (nucleation) of monomeric α-synuclein into pathology. This laboratory setup increases the signal for identifying a catalyst if one is present in the tissue examined.

Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.

Importance: Preventive efforts in pregnancy-related alloimmunization have considerably decreased the prevalence of hemolytic disease of the fetus and newborn (HDFN). International studies are therefore essential to obtain a deeper understanding of the postnatal management and outcomes of HDFN. Taken together with numerous treatment options, large practice variations among centers may exist.

Self-Reported Delayed Adverse Events and Flare Following COVID-19 Vaccination Among Patients With Autoimmune Rheumatic Disease (AIRD) in Malaysia: Results From the COVAD-2 Study.

Objectives: To determine the prevalence of self-reported delayed adverse events (DAEs), major AEs, and flares following COVID-19 vaccinations among patients with autoimmune rheumatic diseases (AIRDs) in Malaysia.

Methodology: An electronically validated survey from the COVID-19 vaccination in autoimmune diseases (COVAD) study group was distributed in July 2021 to patients with autoimmune diseases and healthy controls (HCs). The survey collected data on DAEs (any AE that persisted or occurred after 7 days of vaccination), any early or delayed major adverse events (MAEs), and flares following COVID-19 vaccination.

Time to consider health services dedicated for adults living with cerebral small vessel disease: Report of a ESO scientific seminar.

Purpose: Cerebral small vessel disease (cSVD) is a highly prevalent disorder leading to physical, cognitive and functional decline. We report key barriers in the management of individuals with cSVD, the potential benefit of cSVD-dedicated health services, and evidence from existing models of care for adults with cSVD.

Methods: We examined information from a scientific seminar developed between seven experts in cSVD during the eighth European Stroke Organisation Conference that discussed the optimal health care for adults with cSVD and what health services dedicated to cSVD should include.

Pathological variants in HPV-independent vulvar tumours.

Vulvar cancer is a rare gynaecological disease that can be caused by infection with human papillomavirus (HPV). The mutational frequencies and landscape for HPV-associated and HPV-independent vulvar tumor development are supposedly two distinctly different pathways and more detailed knowledge on target biological mechanisms for individualized future treatments is needed. The study included formalin-fixed paraffin-embedded (FFPE) samples from 32 cancer patients (16 HPV-negative and 16 HPV-associated), treated in Örebro, Sweden from 1988 to 2008.

Content and outcome of non-pharmacological rehabilitation in hospital, or community-based care, for women with traumatic brain injury: a scoping review protocol.

Introduction: Traumatic brain injury (TBI) is a global health issue and a leading cause of long-term disabilities and mortality worldwide. There is growing evidence that TBI rehabilitation should be differentiated and individualised according to gender to provide more effective healthcare and rehabilitation. However, there is a lack of reviews focusing on the rehabilitation for women with TBI and there is a need to summarise existing knowledge to guide and individualise their rehabilitation.

Evaluating ADHD medication trial representativeness: a Swedish population-based study comparing hypothetically trial-eligible and trial-ineligible individuals.

Background: Randomised controlled trials (RCTs) evaluating ADHD medications often use strict eligibility criteria, potentially limiting generalisability to patients in real-world clinical settings. We aimed to identify the proportion of individuals with ADHD who would be ineligible for medication RCTs and evaluate differences in treatment patterns and clinical and functional outcomes between RCT-eligible and RCT-ineligible individuals.

Methods: We used multiple Swedish national registries to identify individuals with ADHD, aged at least 4 years at the age of diagnosis, initiating pharmacological treatment between Jan 1, 2007, and Dec 31, 2019, with follow-up up to Dec 31, 2020.

Migrant Farmworkers' Acceptability of Health Services in Spain: Barriers and Facilitators Identified by Professionals.

Background: Seasonal migrant farmworkers (SMF) make up a significant part of Spain's agricultural labour force. Due to precarious labour conditions, housing insecurity and factors related to migration, SMF are at risk of specific health issues and occupational accidents. In addition, migrants in Spain face barriers when accessing healthcare services.

Reliability generalization meta-analysis of the internal consistency of the Big Five Inventory (BFI) by comparing BFI (44 items) and BFI-2 (60 items) versions controlling for age, sex, language factors.

Introduction: The Big Five Inventory (BFI) is a popular measure that evaluates personality on the Big-Five model. Apart from its utilization across cultures, the literature did not reveal any meta-analysis for the reliability of the different versions of the BFI and its translations. The current study carried out a reliability generalization meta-analysis (REGEMA) to establish the reliability of the BFI across cultures and languages.

Observer- and sequence variability in personalized 4D flow MRI-based cardiovascular models.

Subject-specific parameters in lumped hemodynamic models of the cardiovascular system can be estimated using data from experimental measurements, but the parameter estimation may be hampered by the variability in the input data. In this study, we investigate the influence of inter-sequence, intra-observer, and inter-observer variability in input parameters on estimation of subject-specific model parameters using a previously developed approach for model-based analysis of data from 4D Flow MRI acquisitions and cuff pressure measurements. The investigated parameters describe left ventricular time-varying elastance and aortic compliance.

Machine learning-derived asthma and allergy trajectories in children: a systematic review and meta-analysis.

Introduction: Numerous studies have characterised trajectories of asthma and allergy in children using machine learning, but with different techniques and mixed findings. The present work aimed to summarise the evidence and critically appraise the methodology.

Methods: 10 databases were searched.

Marital and living status and biological ageing trajectories: a longitudinal cohort study with a 20-year follow-up.

Biomarkers of ageing (BA) can predict health risks beyond chronological age, but little is known about how marital/living status affects longitudinal changes in BA. We examined the association between marital/living status and BA over time using the-Swedish-Adoption/Twin-Study-of-Aging (SATSA) cohort. Four BAs were analyzed: telomere length (TL) (638 individuals; 1603 measurements), DNAmAge (535 individuals; 1392 measurements), cognition (823 individuals; 3218 measurements), and frailty index (FI) (1828 individuals; 9502 measurements).