Review of upper extremity passive joint impedance identification in people with Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.

Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life.

Background: Achalasia is a rare esophageal motility disorder with an estimated annual incidence of 1-5/100.000 and a mean age at diagnosis > 50 years of age. Only a fraction of the patients has an onset during childhood (estimated incidence of 0.

Self-sampling and self-testing for HIV at a commercial and community-based test provider in the Netherlands: user preferences and usability.

HIV self-sampling and -testing (HIVSS/ST) reduces testing barriers and potentially reaches populations who may not test otherwise. In the Netherlands, at-home HIV tests became commercially available around 2016, but data on user experiences are limited. This study aimed to explore characteristics of users and their experiences with HIVSS/ST.

A participatory needs assessment to map the system dynamics of overweight related behaviours of 10-14-year-old adolescents living in an underserved neighbourhood in Amsterdam, the Netherlands.

Background: Developing interventions along with the population of interest using systems thinking is a promising method to address the underlying system dynamics of overweight. The purpose of this study is twofold: to gain insight into the perspectives of adolescents regarding: (1) the system dynamics of energy balance-related behaviours (EBRBs) (physical activity, screen use, sleep behaviour and dietary behaviour); and (2) underlying mechanisms and overarching drivers of unhealthy EBRBs.

Methods: We conducted Participatory Action Research (PAR) to map the system dynamics of EBRBs together with adolescents aged 10-14 years old living in a lower socioeconomic, ethnically diverse neighbourhood in Amsterdam East, the Netherlands.

Relationship between plasma urea and copeptin in response to arginine stimulation in healthy adults, patients with vasopressin deficiency and primary polydipsia.

Background: Arginine infusion stimulates copeptin secretion, a surrogate marker of arginine vasopressin (AVP), thereby serving as a diagnostic test in the differential diagnosis of suspected AVP deficiency (AVP-D). Yet, the precise mechanism underlying the stimulatory effect of arginine on the vasopressinergic system remains elusive. Arginine plays a significant role in the urea cycle and increases the production of urea.

The Hsf1-sHsp cascade has pan-antiviral activity in mosquito cells.

Aedes mosquitoes transmit pathogenic arthropod-borne (arbo) viruses, putting nearly half the world's population at risk. Blocking virus replication in mosquitoes is a promising approach to prevent arbovirus transmission, the development of which requires in-depth knowledge of virus-host interactions and mosquito immunity. By integrating multi-omics data, we find that heat shock factor 1 (Hsf1) regulates eight small heat shock protein (sHsp) genes within one topologically associated domain in the genome of the Aedes aegypti mosquito.

Asymptomatic female softball pitchers have altered hip morphology and cartilage composition.

Few studies have explored hip morphology and cartilage composition in female athletes or the impact of asymmetric repetitive loading, such as occurs during softball pitching. The current cross-sectional study assessed bilateral bony hip morphology on computed tomography imaging in collegiate-level softball pitchers ('Pitch1', n = 25) and cross-country runners ('Run', n = 13). Magnetic resonance imaging was used to assess cartilage relaxation times in a second cohort of pitchers ('Pitch2', n = 10) and non-athletic controls ('Con', n = 4).

Early identification of dropouts during the special forces selection program.

Recruits are exposed to high levels of psychological and physical stress during the special forces selection period, resulting in dropout rates of up to 80%. To identify who likely drops out, we assessed a group of 249 recruits, every week of the selection program, on their self-efficacy, motivation, experienced psychological and physical stress, and recovery. Using linear regression as well as state-of-the-art machine learning techniques, we aimed to build a model that could meaningfully predict dropout while remaining interpretable.

Longitudinal omics data and preclinical treatment suggest the proteasome inhibitor carfilzomib as therapy for ibrutinib-resistant CLL.

Chronic lymphocytic leukemia is a malignant lymphoproliferative disorder for which primary or acquired drug resistance represents a major challenge. To investigate the underlying molecular mechanisms, we generate a mouse model of ibrutinib resistance, in which, after initial treatment response, relapse under therapy occurrs with an aggressive outgrowth of malignant cells, resembling observations in patients. A comparative analysis of exome, transcriptome and proteome of sorted leukemic murine cells during treatment and after relapse suggests alterations in the proteasome activity as a driver of ibrutinib resistance.

Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.

Genome-wide association study on chronic postsurgical pain in the UK Biobank.

Background: Chronic postsurgical pain (CPSP) persists beyond the expected healing period after surgery, imposing a substantial burden on overall patient well-being. Unfortunately, CPSP often remains underdiagnosed and undertreated. To better understand the mechanism of CPSP development, we aimed to identify genetic variants associated with CPSP.

Protocol for a systematic review and individual participant data meta-analysis for risk factors for lung cancer in individuals with lung nodules identified by low-dose CT screening.

Background: Worldwide, lung cancer (LC) is the second most frequent cancer and the leading cause of cancer related mortality. Low-dose CT (LDCT) screening reduced LC mortality by 20-24% in randomised trials of high-risk populations. A significant proportion of those screened have nodules detected that are found to be benign.

The effect of sleep disturbances on the incidence of dementia for varying lag times.

Background: Few studies have addressed the association of sleep disturbances with incident dementia with long lag times. We add to this literature by investigating how lag times varying from 2.2 to 23.

Distinct clinical outcomes based on multiple serum cytokine and chemokine profiles rather than autoantibody profiles and ultrasound findings in rheumatoid arthritis: a prospective ultrasound cohort study.

Objectives: To evaluate the potential of clinical factors, ultrasound findings, serum autoantibodies, and serum cytokine and chemokine profiles as predictors of clinical outcomes in rheumatoid arthritis (RA).

Patients And Methods: We included 200 patients with RA treated with biological and targeted synthetic disease-modifying antirheumatic drugs in a prospective multicentre ultrasound cohort study. Their serum levels of multiple cytokines and chemokines, rheumatoid factors, and serum autoantibodies (anti-cyclic citrullinated peptide-2 (anti-CCP2) and anti-carbamylated protein antibodies) were measured at baseline, 3 months and 12 months.

Accurate urine sodium measurements at home using Point of Care Testing in patients with Short Bowel Syndrome.

Background And Aims: Measurement of the urine sodium concentration (USC) is a simple procedure that in many patients adequately indicates their hydration status. This is of particular importance in patients suffering from short bowel syndrome (SBS), who may very rapidly dehydrate and are at risk for permanently compromising their kidney function. A point of care test (POCT) that allows reliable measurement of USC would enable these patients to effectively evaluate their sodium- and water balance in the at home setting, thereby avoiding hospital visits and delayed test results.

Classification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.

Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS.

Multimodal strategies for the implementation of infection prevention and control (IPC) interventions - update of a systematic review for the WHO guidelines on core components of IPC programmes at the facility level.

Background: Healthcare-associated infections (HAIs) remain a significant challenge worldwide, and the use of multimodal strategies is recommended by the World Health Organization (WHO) to enhance infection prevention.

Objectives: To update the systematic review on facility-level infection prevention and control (IPC) interventions on the WHO Core Component of using multimodal strategies.

Methods: Data Sources: Medline (via PubMed), EMBASE, CINAHL, and the Cochrane library.

Specific symptomatology profile associated with treatment resistant depression: A multicentric study from the Group for the Study of Resistant Depression with a focus on sex.

Background: Clinical predictors of treatment-resistant depression could improve treatment strategies. Depressive symptom profiles at baseline are potential outcome predictors, but little evidence is available, and sex-specific profiles have been scarcely investigated.

Methods: Baseline symptom scores of 1294 patients with major depressive disorder were assessed by the Montgomery-Åsberg depression rating scale (MADRS) as part of a multicenter study by the "Group for the Studies of Resistant Depression".

Breast cancer outcomes after skin- and nipple-sparing mastectomy in BRCA pathogenic mutation carriers versus non-BRCA carriers.

Unlabelled: Our previous study on BRCA breast cancer carriers disclosed a high local recurrence (LR) rate in patients who underwent skin sparing (SSM) or nipple sparing mastectomy (NSM) without postoperative radiation therapy (RT), compared to breast conservation surgery or mastectomy with RT. The current study compares the LR rates in BRCA versus non BRCA carriers after SSM/NSM in relation the receipt of RT.

Methods: The study was approved by the institutional ethics committee.

Unique considerations in the assessment and management of traumatic brain injury in older adults.

The age-specific incidence of traumatic brain injury in older adults is rising in high-income countries, mainly due to an increase in the incidence of falls. The severity of traumatic brain injury in older adults can be underestimated because of a delay in the development of mass effect and symptoms of intracranial haemorrhage. Management and rehabilitation in older adults must consider comorbidities and frailty, the treatment of pre-existing disorders, the reduced potential for recovery, the likelihood of cognitive decline, and the avoidance of future falls.

Apixaban versus aspirin for stroke prevention in people with subclinical atrial fibrillation and a history of stroke or transient ischaemic attack: subgroup analysis of the ARTESiA randomised controlled trial.

Background: People with subclinical atrial fibrillation are at increased risk of stroke, albeit to a lesser extent than those with clinical atrial fibrillation, leading to an ongoing debate regarding the benefit of anticoagulation in these individuals. In the ARTESiA trial, the direct-acting oral anticoagulant apixaban reduced stroke or systemic embolism compared with aspirin in people with subclinical atrial fibrillation, but the risk of major bleeding was increased with apixaban. In a prespecified subgroup analysis of ARTESiA, we tested the hypothesis that people with subclinical atrial fibrillation and a history of stroke or transient ischaemic attack, who are known to have an increased risk of recurrent stroke, would show a greater benefit from oral anticoagulation for secondary stroke prevention compared with those without a history of stroke or transient ischaemic attack.

Identifying ICU survivors and relatives with post-traumatic stress disorder using text mining: An explorative study.

Purpose: A quarter of ICU-patients develop post-traumatic stress disorder (PTSD) after discharge. These patients could benefit from early detection of PTSD. Therefore, we explored the accuracy of text mining with self-narratives to identify intensive care unit (ICU) patients and surviving relatives at risk of PTSD in a pilot study.

Isolated subsegmental pulmonary embolism identification based on international classification of diseases (ICD)-10 codes and imaging reports.

Background: Isolated subsegmental pulmonary embolism (issPE) is a commonly encountered diagnosis. Although the International Classification of Diseases (ICD)-10 codes are used for research, their validity for identifying issPE is unknown. Moreover, issPE diagnosis is challenging, and the findings from radiology reports may conflict with those from expert radiologists.

Effect of head size, head material, and radiation dose on the repeatability of CT-RSA measurements of femoral head penetration.

Background: The risk of early revision of total hip arthroplasty (THA) for polyethylene wear is now low, but there remains a need to perform wear measurements in patients for clinical surveillance. The gold standard of wear measurements has been radiostereometric analysis (RSA), which has limited availability. The use of computed tomography (CT) to perform THA wear measurement was described a decade ago and found to have acceptable accuracy and precision, but high radiation dose was a concern.