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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. P

The production, allocation and cycling of carbon in a forest on fertile terra preta soil in eastern Amazonia compared with a forest on adjacent infertile soil

Background: Terra preta do indio or 'dark earth' soils formed as a result of a long-term addition of organic matter by indigenous peoples in Amazonia. Aims: Here we report on the first study of productivity, allocation and carbon cycling from a terra preta plot in eastern Amazonia (Caxiuana, Para, Brazil), and contrast its dynamics with a nearby plot on infertile soil (ferralsols). Methods: We det

Multiscale Quantification of Hemispheric Asymmetry in Cortical Maps Using Geometric Eigenmodes

Hemispheric asymmetry is a universal property of brain organization with wide implications into brain function and structure, and diseases. This study presents a laterality index for characterizing hemispheric asymmetries that underlie cortical maps using geometric eigenmodes derived from human cortical surfaces. We develop a generalized design to quantify asymmetries across various cortical spati

Initiatives to increase childhood vaccination coverage : an international comparison

Background Childhood vaccination rates fluctuate over time and do not always meet the levels recommended by the WHO. Objective This study aims to provide an overview of measures countries have introduced to increase vaccination rates. Methods We developed a structured data collection template that was completed by country experts from Europe, Israel, the USA, and Canada. Experts were identified us

Using Dental Register Information and Questionnaire Data to Assess Periodontitis in Large Cohort Studies

Aim: Periodontitis proxy variables enable an expansion of periodontal research. The study aimed to estimate the validity of questionnaire items and registry data in relation to Stage III–IV periodontitis and having 50% bone loss. Methods: Malmö Offspring Dental Study (MODS) participants (995) filled out questionnaires and underwent periodontal and panoramic radiography examinations. The questionna

Human impacts and their interactions in the Baltic Sea region

Coastal environments, in particular heavily populated semi-enclosed marginal seas and coasts like the Baltic Sea region, are strongly affected by human activities. A multitude of human impacts, including climate change, affect the different compartments of the environment, and these effects interact with each other. As part of the Baltic Earth Assessment Reports (BEAR), we present an inventory and

Does it make sense to use two internal thoracic arteries?

Retrospectively, the first 143 patients who were operated on with bilateral internal thoracic arteries (BITA group) were matched with 143 patients operated on with only one left internal thoracic artery anastomosed on the left anterior descending artery and additional vein grafts (LITA group) and followed up for a maximum of 8 years. At 5 years follow-up there were no significant differences in ev

Causal analysis of plasma IL-8 on carotid intima media thickness, a measure of subclinical atherosclerosis

BACKGROUND: We investigated the causality of IL-8 on carotid intima-media thickness (c-IMT), a measure of sub-clinical atherosclerosis.METHODS: The IMPROVE is a multicenter European study (n = 3,711). The association of plasma IL-8 with c-IMT (mm) was estimated by quantile regression. Genotyping was performed using the Illumina CardioMetabo and Immuno chips. Replication was attempted in three inde

Care as repair, but whose responsibility? : Front-line health workers’ resourcefulness in implementing a PMTCT tracing policy in Kenya

Defaulter tracing policies for Prevention of Mother-to-Child Transmission (PMTCT) services are vital for achieving the global goal of zero new HIV infections. However, little is known about their implementation. This qualitative study explores the role of tracers—community volunteers, retention workers, and mentor mothers—in implementing such policy across six facilities in Western Kenya. It uses Defaulter tracing policies for Prevention of Mother-to-Child Transmission (PMTCT) services are vital for achieving the global goal of zero new HIV infections. However, little is known about their implementation. This qualitative study explores the role of tracers—community volunteers, retention workers, and mentor mothers—in implementing such policy across six facilities in Western Kenya. It uses

EPOS2020/EUFOREA expert opinion on defining disease states and therapeutic goals in CRSwNP

Severe chronic rhinosinusitis with nasal polyps (CRSwNP), a form of diffuse bilateral (usually type 2) CRS, is a debilitating disease with a significant impact on quality of life (QoL). With novel knowledge and treatment options becoming available, there is a growing need to update or revise key definitions to enable communication across different specialties dealing with CRS, and to agree on nove

A SIRT7-dependent acetylation switch regulates early B cell differentiation and lineage commitment through Pax5

B lymphopoiesis is orchestrated by lineage-specific transcription factors. In B cell progenitors, lineage commitment is mediated by Pax5, which is commonly mutated in B cell acute lymphoblastic leukemia. Despite its essential role in immunity, the mechanisms regulating Pax5 function remain largely unknown. Here, we found that the NAD+-dependent enzyme SIRT7 coordinates B cell development through d

Shotgun metagenomics and systemic targeted metabolomics highlight indole-3-propionic acid as a protective gut microbial metabolite against influenza infection

The gut-to-lung axis is critical during respiratory infections, including influenza A virus (IAV) infection. In the present study, we used high-resolution shotgun metagenomics and targeted metabolomic analysis to characterize influenza-associated changes in the composition and metabolism of the mouse gut microbiota. We observed several taxonomic-level changes on day (D)7 post-infection, including

Climate, peace, and conflict—past and present: Bridging insights from historical sciences and contemporary research

Concern has risen that current global warming and more frequent extreme events such as droughts and floods will increase conflict around the world. This concern has spurred both social science research on contemporary climate, peace, and conflict as well as research in the historical sciences on past climate, weather, warfare, and violence. This perspectives article compares these two fields of sc

TMEM160 Promotes Tumor Growth in Lung Adenocarcinoma and Cervical Adenocarcinoma Cell Lines

The Chromosome-Centric Human Proteome Project (C-HPP) is an international initiative. It aims to create a protein list expressed in human cells by each chromosomal and mitochondrial DNA to enhance our understanding of disease mechanisms, akin to the gene list generated by the Human Genome Project. Transmembrane protein 160 (TMEM160) is a member of the transmembrane proteins (TMEM) family. TMEM pro

Collective structures and smooth band termination in 109Sn

Six rotational bands up to energies Ex = 24.7 MeV and spins Jπ=(79/2−) have been identified in 109Sn using the GAMMASPHERE γ-detector array. Four of the bands show smoothly decreasing dynamic moments of inertia at rotational frequencies ℏω > 0.6 MeV. The bands arise at medium spins from a coupling of a valence d5/2, g7/2 or h11/2 neutron to the deformed 2p2h proton excitation of the Z=50 core 108S

Patient selection and outcome in low-grade glioma surgery

Background and objectives: Maximal safe resection is the cornerstone of diffuse low-grade glioma (dLGG) management, although epidemiological data are limited. We aim to explore surgical selection, techniques, and outcomes in a population-based cohort. Materials and methods: This study utilized a multi-center case series (9 out of 10 neurosurgical departments in Norway and Sweden) of all adults (≥1

Clinicians’ time in different aspects of hypertension care : how far are we from optimal management required by guidelines? Results of an international survey of the working group of general practitioners’ and team-based care of the European Society of Hypertension and the European General Practice Research Network

Background: Hypertension management guidelines provide recommendations for optimal patient care. However, the limited time available of clinicians is rarely considered. The aim of this study was to evaluate the time clinicians currently spend on different components of hypertension care during an average workday and to assess physicians’ perceptions of the time required for optimal, guideline-base

Sex difference and intra-operative tidal volume : Insights from the LAS VEGAS study

BACKGROUND: One key element of lung-protective ventilation is the use of a low tidal volume (VT). A sex difference in use of low tidal volume ventilation (LTVV) has been described in critically ill ICU patients.OBJECTIVES: The aim of this study was to determine whether a sex difference in use of LTVV also exists in operating room patients, and if present what factors drive this difference.DESIGN,