Considering best practice standards for routine whole-genome sequencing for TB care and control.

TB is a priority pathogen for the application of whole-genome sequencing (WGS) into routine public health practice. In low-incidence settings, a growing number of services have begun to incorporate routine WGS into standard practice. The increasing availability of real-time genomic information supports a variety of aspects of the public health response, including the detection of drug resistance, monitoring of laboratory and clinical practices, contact tracing investigations and active case finding.

An interconnected data infrastructure to support large-scale rare disease research.

The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analyzing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing, and multiomics data. Here we report on the data infrastructure devised and created to support this co-analysis.

Patient Experience and Feasibility of a Remote Monitoring System in Parkinson's Disease.

Background: Remote monitoring systems have the potential to measure symptoms and treatment effects in people with Parkinson's disease (PwP) in the home environment. However, information about user experience and long-term compliance of such systems in a large group of PwP with relatively severe PD symptoms is lacking.

Objective: The aim was to gain insight into user experience and long-term compliance of a smartwatch (to be worn 24/7) and an online dashboard to report falls and receive feedback of data.

Use of Massage Therapy for Pain, 2018-2023: A Systematic Review.

Importance: Massage therapy is a popular treatment that has been advocated for dozens of painful adult health conditions and has a large evidence base.

Objective: To map systematic reviews, conclusions, and certainty or quality of evidence for outcomes of massage therapy for painful adult health conditions.

Evidence Review: In this systematic review, a computerized search was conducted of PubMed, the Allied and Complementary Medicine Database, the Cumulated Index to Nursing and Allied Health Literature, the Cochrane Database of Systematic Reviews, and Web of Science from 2018 to 2023.

TB among refugees from Ukraine in European countries.

Background: Since the Russian Federation's invasion of Ukraine, millions of refugees have moved to neighbouring European countries. We assessed the burden of TB in these refugees and surveyed screening approaches.

Methods: We conducted a survey among 30 European Union/European Economic Area and 13 other European countries, requesting population data on migrant residents and refugees with country of birth (COB) Ukraine, the number of TB notifications among people with COB Ukraine and countries' screening policies for refugees from Ukraine.

Key drivers of the TB epidemic in Suriname and priority actions to reduce incidence and mortality.

Background: The WHO has recently published updated guidance for national strategic planning for TB. To address the TB epidemic comprehensively, it is necessary to conduct an epidemiological review as part of the situation analysis in the national strategic plan.

Methods: A descriptive epidemiological study was conducted using data from the national TB register for the period of 2010-2020.

A vasopressin circuit that modulates mouse social investigation and anxiety-like behavior in a sex-specific manner.

One of the largest sex differences in brain neurochemistry is the expression of the neuropeptide arginine vasopressin (AVP) within the vertebrate brain, with males having more AVP cells in the bed nucleus of the stria terminalis (BNST) than females. Despite the long-standing implication of AVP in social and anxiety-like behaviors, the circuitry underlying AVP's control of these behaviors is still not well defined. Using optogenetic approaches, we show that inhibiting AVP BNST cells reduces social investigation in males, but not in females, whereas stimulating these cells increases social investigation in both sexes, but more so in males.

Subspace corrected relevance learning with application in neuroimaging.

In machine learning, data often comes from different sources, but combining them can introduce extraneous variation that affects both generalization and interpretability. For example, we investigate the classification of neurodegenerative diseases using FDG-PET data collected from multiple neuroimaging centers. However, data collected at different centers introduces unwanted variation due to differences in scanners, scanning protocols, and processing methods.

Screening for tuberculosis infection and effectiveness of preventive treatment among people with HIV in low-incidence settings.

Objective: To determine the yield of screening for latent tuberculosis infection (LTBI) among people with HIV (PWH) in low tuberculosis (TB) incidence countries (<10 TB cases per 100 000 persons).

Design: A systematic review and meta-analysis were performed to assess prevalence and predictive factors of LTBI, rate of TB progression, effect of TB preventive treatment (TPT), and numbers needed to screen (NNS).

Methods: PubMed and Cochrane Library were searched for studies reporting primary data, excluding studies on active or paediatric TB.

A vasopressin circuit that modulates sex-specific social interest and anxiety-like behavior in mice.

One of the largest sex differences in brain neurochemistry is the male-biased expression of the neuropeptide arginine vasopressin (AVP) within the vertebrate social brain. Despite the long-standing implication of AVP in social and anxiety-like behavior, the precise circuitry and anatomical substrate underlying its control are still poorly understood. By employing optogenetic manipulation of AVP cells within the bed nucleus of the stria terminalis (BNST), we have unveiled a central role for these cells in promoting social investigation, with a more pronounced role in males relative to females.

UCRAID (Ukrainian Citizen and refugee electronic support in Respiratory diseases, Allergy, Immunology and Dermatology) action plan.

Eight million Ukrainians have taken refuge in the European Union. Many have asthma and/or allergic rhinitis and/or urticaria, and around 100,000 may have a severe disease. Cultural and language barriers are a major obstacle to appropriate management.

Sex differences in afferents and efferents of vasopressin neurons of the bed nucleus of the stria terminalis and medial amygdala in mice.

Steroid-sensitive vasopressin (AVP) neurons in the bed nucleus of the stria terminalis (BNST) and medial amygdala (MeA) have been implicated in the control of social behavior, but the connectional architecture of these cells is not well understood. Here we used a modified rabies virus (RV) approach to identify cells that provide monosynaptic input to BNST and MeA AVP cells, and an adeno-associated viral (AAV) anterograde tracer strategy to map the outputs of these cells. Although the location of in- and outputs of these cells generally overlap, we observed several sex differences with differences in density of outputs typically favoring males, but the direction of sex differences in inputs vary based on their location.

Effects of Blood Pressure on Brain Tissue Pulsation Amplitude in a Phantom Model.

Objective: The precise mechanism and determinants of brain tissue pulsations (BTPs) are poorly understood, and the impact of blood pressure (BP) on BTPs is relatively unexplored. This study aimed to explore the relationship between BP parameters (mean arterial pressure [MAP] and pulse pressure [PP]) and BTP amplitude, using a transcranial tissue Doppler prototype.

Methods: A phantom brain model generating arterial-induced BTPs was developed to observe BP changes in the absence of confounding variables and cerebral autoregulation feedback processes.

An Exploration of Australian Online Government Portals for Women Experiencing Domestic Violence During the COVID-19 Pandemic.

Domestic violence against women increased during COVID-19 lockdowns. This inaugural study examined the content of Australian government online portals, for women seeking support and help for domestic violence, during the 2021 COVID-19 pandemic. This mixed methods study incorporated four phases: a search; measurement of portal quality standard using DISCERN; enumeration of portal items; and a qualitative exploration of portal text.

Diagnosis, treatment and transmission of rifampicin-resistant TB in the Netherlands, 2010-2019.

New tools for diagnosis and treatment of rifampicin-resistant (RR-) and multidrug-resistant (MDR-) TB have become available in the last decade, including better tests confirming transmission. To analyse transmission risks of MDR/RR-TB in the Netherlands. Analysis of national data of patients with MDR/RR-TB notified in 2010-2019, including contact investigation and genotyping data.

Drivers determining tuberculosis disease screening yield in four European screening programmes: a comparative analysis.

Background: The World Health Organization End TB Strategy emphasises screening for early diagnosis of tuberculosis (TB) in high-risk groups, including migrants. We analysed key drivers of TB yield differences in four large migrant TB screening programmes to inform TB control planning and feasibility of a European approach.

Methods: We pooled individual TB screening episode data from Italy, the Netherlands, Sweden and the UK, and analysed predictors and interactions for TB case yield using multivariable logistic regression models.

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.

Recessive pathogenic variants in POPDC3 have recently been associated with the rare limb-girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a distantly related individual with a skeletal muscle disorder, harboring the c.486-6T>A splice site variant in POPDC3 in homozygosity.

Modulation of social behavior by distinct vasopressin sources.

The neuropeptide arginine-vasopressin (AVP) is well known for its peripheral effects on blood pressure and antidiuresis. However, AVP also modulates various social and anxiety-related behaviors by its actions in the brain, often sex-specifically, with effects typically being stronger in males than in females. AVP in the nervous system originates from several distinct sources which are, in turn, regulated by different inputs and regulatory factors.

Digitally-enabled, patient-centred care in rhinitis and asthma multimorbidity: The ARIA-MASK-air approach.

MASK-air , a validated mHealth app (Medical Device regulation Class IIa) has enabled large observational implementation studies in over 58,000 people with allergic rhinitis and/or asthma. It can help to address unmet patient needs in rhinitis and asthma care. MASK-air is a Good Practice of DG Santé on digitally-enabled, patient-centred care.