One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

How is maternal employment associated with infant and young child feeding in Bangladesh? A systematic literature review and meta-analysis.

Background: In the last three decades, the increasing trend in female employment in Bangladesh has been critically analyzed from a socioeconomic point of view; however, its impact on infant and young child feeding (IYCF) practices has yet to be systematically reviewed. The aim of this systematic review and meta-analysis is to investigate the association between these variables.

Methods: A systematic literature search was conducted in PubMed, Medline, Web of Science, Embase, CINAHL, and Google Scholar to retrieve relevant records with no restriction of publication period.

Young, female and scientist: exploring barriers, challenges and opportunities.

Different societal, systemic and personal barriers exist at various stages along a female researcher's career that can potentially undermine their success. The equation for women to reach higher positions in STEM is a multivariable one, and while there has been considerable progress towards addressing some of these compared with the past, current solutions are inadequate and do not address all facets. Here, we asked female winners of the FEBS Open Bio poster prize about their experiences regarding barriers they have faced at the predoctoral and postdoctoral stages, their opinions on how these can be addressed and their advice to new students entering a PhD degree.

Bayesian Spatial Relative Survival Model to Estimate the Loss in Life Expectancy and Crude Probability of Death for Cancer Patients.

To date, there have not been any population-based cancer studies quantifying geographical patterns of the loss in life expectancy (LLE) and crude probability of death due to cancer ( ). These absolute measures of survival are complementary to the more typically used relative measures of excess mortality and relative survival, and, together, they provide a fuller understanding of geographical disparities in survival outcomes for cancer patients. We propose using a spatially flexible parametric relative survival model in the Bayesian framework, which allows for the inclusion of spatial effects in hazard-level model components.

Reliability and Accuracy of Standard Reference Procedures for Measurements of Trunk and Arm Postures in Ergonomics.

Adequate reference procedures for obtaining the reference zero-angle position are important for precise and accurate posture measurements, but few studies have systematically investigated these. A limited number of previous studies suggest differences in accuracy between procedures, with some causing an underestimation of the true arm elevation angle when sensors are taped to the skin. The reliability of commonly used reference procedures for the measurement of the trunk posture is also not well explored, and alternative procedures may improve precision.

Short-term outcomes from the 'Watch and Wait' (WoW) study: prospective cohort study.

Background: Despite absence of level 1 evidence on the long-term oncological safety of non-operative management for rectal cancer (watch and wait), increased implementation has occurred globally over the past decades. In Sweden, a pan-national prospective non-randomized study was initiated in 2017 to assess its implementation.

Method: Patients with biopsy-proven rectal cancer receiving neoadjuvant therapy according to national guidelines in whom a clinical complete response was detected at reassessment were eligible for inclusion following informed consent.

Evaluation of an updated educational intervention on nutritional care to prevent undernutrition among older adults in primary health care.

Aim: The aim of this study was to evaluate district nurses' perceived and factual knowledge about nutritional care after an updated and expanded educational intervention. Furthermore, we aimed to compare the outcomes of the revised and the original educational intervention.

Background: In-depth knowledge of nutritional care is a prerequisite to supporting older adults' well-being and health.

The scope of emergency nursing viewed through the lens of complex adaptive systems: A discussion paper.

Across the world, emergency department nurses care for patients around the clock all year long. They perform tasks ranging from direct nursing care to managing patient flow, working in an environment characterised by interdependencies among numerous actors. The complex context in which emergency nurses operate has not been thoroughly described or discussed, indicating a knowledge gap.

Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.

Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.

Challenges and possibilities when doing research on active school travel interventions in a school setting - a non-randomized pilot study assessing feasibility of an evaluation design.

Background: A wide range of school interventions have been launched to increase childrens' physical activity. Evaluation of the effectiveness of interventions requires suitable study designs and feasible quantitative evaluations relating to the school setting. The purpose of this study was to assess the evaluation design and methods for data collection, in order to make decisions about approaching forthcoming studies of the effectiveness of active school travel (AST) interventions.

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).

Comparative effectiveness of antipsychotic treatment strategies for relapse prevention in first-episode schizophrenia in Finland: a population-based cohort study.

Background: The best pharmacological treatment practices for relapse prevention in patients with first-episode schizophrenia are unclear. We aimed to assess different treatment strategies used before and after the first relapse, and their associations with subsequent relapse risk.

Methods: In this population-based cohort study, we enrolled individuals (aged ≤45 years) with first-episode schizophrenia who were hospitalised and subsequently relapsed between 1996 and 2014 from the nationwide Finnish Hospital Discharge Register.

Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders.

A meta-genome-wide association study across eight psychiatric disorders has highlighted the genetic architecture of pleiotropy in major psychiatric disorders. However, mechanisms underlying pleiotropic effects of the associated variants remain to be explored. We conducted a massively parallel reporter assay to decode the regulatory logic of variants with pleiotropic and disorder-specific effects.

Selenoprotein P predicting mortallity in acute ill patients with dyspnea.

Background And Aims: Good Selenium (Se) status predicts favorable prognoses for various diseases and a reduced overall mortality. The primary objective of the study was to determine whether Selenium status, i.e.

Circuit Modules for Flexible Locomotion.

Locomotion, like all behaviors, possesses an inherent flexibility that allows for the scaling of movement kinematic features, such as speed and vigor, in response to an ever-changing external world and internal drives. This flexibility is embedded in the organization of the spinal locomotor circuits, which encode and decode commands from the brainstem and proprioceptive feedback. This review highlights our current understanding of the modular organization of these locomotor circuits and how this modularity endows them with intrinsic mechanisms to adjust speed and vigor, thereby contributing to the flexibility of locomotor movements.

Expanding the brain's terrain for reward.

A previously unknown region in the brainstem controls dopamine activity.

Short, extended and continuous infusion of β-lactams: predicted impact on target attainment and risk for toxicity in an ICU patient cohort.

Objectives: This study aimed to predict the impact of different infusion strategies on pharmacokinetic/pharmacodynamic (PK/PD) target attainment and the potential risk for toxicity in an ICU cohort treated with β-lactams.

Method: Using collected patient data from 137 adult ICU patients, and applying population PK models, individual PK parameters were estimated and used to predict concentrations and target attainment following cefotaxime 2 g q8h, piperacillin/tazobactam 4.5 g q6h and meropenem 1 g q8h, applying 15 min short infusions (SI), 3 h extended infusions (EI) and 24 h continuous infusion (CI).

TIGIT-expression on natural killer cell subsets is an early indicator of alleviating liver inflammation following bulevirtide treatment in chronic hepatitis D.

Background Aims: Bulevirtide (BLV) is a novel and the only approved treatment option for patients with chronic hepatitis D (CHD). BLV alleviates liver inflammation already early during treatment when only minor HDV RNA changes are observed. We hypothesized that BLV-treatment may influence immune cells in CHD patients and performed a high-resolution analysis of natural killer (NK) cells before and during BLV-therapy.

A literature-based cost-effectiveness analysis of device-assisted suturing versus needle-driven suturing during laparotomy closure.

Purpose: Small-bites suturing technique for laparotomy closure is now recommended as the standard of care. However, uptake of the practice remains slow. A medical technology called the SutureTOOL has been developed which can facilitate implementation of small-bites.

Discordance and Performance of the ARC-HBR and PRECISE-DAPT High Bleeding Risk Definitions After Coronary Stenting.

Background: The aim of the ARC-HBR (Academic Research Consortium for High Bleeding Risk) and PRECISE-DAPT (Predicting Bleeding Complications in Patients Undergoing Stent Implantation and Subsequent Dual Antiplatelet Therapy) score definitions for high bleeding risk is to identify patients who would benefit from shorter or less intensive antiplatelet therapy after coronary stenting.

Objectives: The aim of this study was to assess the performance of the ARC-HBR and PRECISE-DAPT score definitions for high bleeding risk in routine clinical practice.

Methods: Using nationwide registers, all patients in Stockholm, Sweden, who were discharged after coronary stenting with dual antiplatelet therapy (January 1, 2013, to July 1, 2018) were included.

Short- and Long-Term Effects on Physical Fitness in Older Adults: Results from an 8-Week Exercise Program Repeated in Two Consecutive Years.

: Information on the long-term maintenance of short-term exercise fitness gains measured by field-based tests is scarce in older adults. This study aimed to investigate short- and long-term changes in various physical fitness parameters after an 8-week exercise program. : In this longitudinal study, a total of 265 participants (62% women; mean age 71.

Tangential Versus Segmental Portomesenteric Venous Resection During Pancreatoduodenectomy for Pancreatic Cancer: An International Multicenter Cohort Study on Surgical and Oncological Outcome.

Objective: To investigate whether tangential versus segmental portomesenteric venous resection (PVR) impacts surgical and oncological outcome in patients undergoing pancreatoduodenectomy for pancreatic cancer with portomesenteric vein (PMV) involvement.

Summary Background Data: Current comparative studies on tangential versus segmental PVR as part of pancreatoduodenectomy for pancreatic cancer include all degrees of PMV involvement, including cases where tangential PVR may not be a feasible approach, limiting the clinical applicability.

Methods: International retrospective study in 10 centers from 5 countries, including all consecutive patients after pancreatoduodenectomy with PVR for pancreatic cancer with ≤180° PMV involvement on cross-sectional imaging at diagnosis (2014-2020).

Performance of computerized self-reported medical history taking and HEAR score for safe early rule-out of cardiac events in acute chest pain patients: the CLEOS-CPDS prospective cohort study.

Aims: A simplified version of the history, electrocardiogram, age, risk factors, troponin (HEART) score, excluding troponin, has been proposed to rule-out major adverse cardiac events (MACEs). Computerized history taking (CHT) provides a systematic and automated method to obtain information necessary to calculate the HEAR score. We aimed to evaluate the efficacy and diagnostic accuracy of CHT in calculating the HEAR score for predicting MACE.