Regions of Homozygosity (ROH) typically reflect normal demographic history of a human population, but may also relate to cryptic consanguinity, and, additionally, have been associated with specific medical conditions. The objective of this study was to investigate the location, size, and prevalence of common ROH segments in a Middle Eastern cohort. This retrospective study included 13 483 samples collected from all Chromosomal Microarray analyses (CMA) performed using Single Nucleotide Polymorphism (SNP) arrays at the genetic clinical laboratory of Rabin Medical Center between 2017-2023 (primary data set). An additional replication cohort including 100 842 samples from another SNP array platform, obtained from Maccabi Health Organization, was analyzed. Common ROH locations were defined as those ROH locations involving 1% or more of the samples. A total of 66 710 ROH segments, involving 13 035 samples (96.7%) were identified in the primary data set. Of the 4069 cytogenetic ROH locations, 68 were identified as common. The prevalence of non-common ROH was relatively high in affected individuals, and for acrocentric chromosomes, chromosomes associated with common trisomies, and non-imprinted chromosomes. In addition, differences in common ROH locations were observed between the primary and the replication cohorts. Our findings highlight the need for population-specific guidelines in determining ROH reporting cutoffs, considering factors such as population-specific prevalence and testing platform differences. Future research with larger, varied cohorts is essential to advance understanding of ROH\'s associations with medical conditions and to improve clinical practices accordingly.

Eastern and Western Finns show a striking difference in coronary heart disease-related mortality; genetics is a known contributor for this discrepancy. Here, we discuss the potential role of DNA methylation in mediating the discrepancy in cardiometabolic disease-risk phenotypes between the sub-populations. We used data from the Young Finns Study (n = 969) to compare the genome-wide DNA methylation levels of East- and West-originating Finns. We identified 21 differentially methylated loci (FDR < 0.05; Δβ >2.5%) and 7 regions (smoothed FDR < 0.05; CpGs ≥ 5). Methylation at all loci and regions associates with genetic variants (p < 5 × 10-8). Independently of genetics, methylation at 11 loci and 4 regions associates with transcript expression, including genes encoding zinc finger proteins. Similarly, methylation at 5 loci and 4 regions associates with cardiometabolic disease-risk phenotypes including triglycerides, glucose, cholesterol, as well as insulin treatment. This analysis was also performed in LURIC (n = 2371), a German cardiovascular patient cohort, and results replicated for the association of methylation at cg26740318 and DMR_11p15 with diabetes-related phenotypes and methylation at DMR_22q13 with triglyceride levels. Our results indicate that DNA methylation differences between East and West Finns may have a functional role in mediating the cardiometabolic disease discrepancy between the sub-populations.

In this article we examine how a leading Israeli hospital gradually became a large biomedical research facility, resembling a huge laboratory. For Chaim Sheba (1908-1971), the founder and first director of Tel-Hashomer Hospital, the massive immigration to Israel in the 1950s was a unique opportunity for research of diverse human populations, especially Jews who had arrived to Israel from Asia and Africa. The paper focuses on the way research and medical practices were integrated and their boundaries blurred, and studies the conditions under which an entire hospital became a research field. Using the case of one of Israel\'s prominent medical institutes, we explore and expand upon the idea of \"the hospital as a laboratory,\" arguing that, for Sheba, it was not only the hospital but the entire country that functioned as a great research site-a vast laboratory that \"had no walls.\"

OBJECTIVE: This scoping review sought to evaluate the current literature regarding the following outcomes in relation to rurality: stage at diagnosis, clinical characteristics, treatment characteristics, and survival outcomes of head and neck cancer (HNC).
METHODS: A literature search was performed using PubMed (MEDLINE), Science Direct, EMBASE, SCOPUS, and Web of Science databases.
METHODS: A 20-year study cutoff from the initial search was used to increase the comparability of the studies regarding population and standards of clinical care. These searches were designed to capture all primary studies reporting HNC incidence, presenting characteristics, treatments, and treatment outcomes. Two reviewers independently screened abstracts, selected articles for exclusion, extracted data, and appraised studies. Critical appraisal was done according to the Joanna Briggs Institute Quality Assessment Tool for Cohort Studies.
RESULTS: Twenty eligible original articles were included. Stage at diagnosis, clinical characteristics, treatment characteristics, and survival outcomes were measured. Our review indicates that although this relationship is unclear, there may be variations in treatment choice for laryngeal cancer based on geographic location and rural residency status. The studies assessing HNC outcomes related to stage at diagnosis, clinical characteristics, treatment characteristics, and overall survival demonstrated conflicting findings, indicating a need for further research examining HNC outcomes with a focus on rurality as the main exposure.
CONCLUSIONS: The relationship between HNC and rural-urban status remains unclear. More studies are needed, along with a consistent metric for measuring rurality and recruitment of comparable populations from both rural and urban areas. Laryngoscope, 2024.

OBJECTIVE: International guidelines emphasize advice to incorporate dietary measures for the prevention and in the management of hypertension. Current data show that modest reductions in weight can have an impact on blood pressure. Reducing salt and marine oils have also shown consistent benefit in reducing blood pressure. Whether other dietary constituents, in particular the amount and type of fat that play important roles in cardiovascular prevention, influence blood pressure sufficiently to be included in the management of hypertension is less certain. In this review, we provide a summary of the most recent findings, with a focus on dietary patterns, fats and other nutrients and their impact on blood pressure and hypertension.
RESULTS: Since reducing salt consumption is an established recommendation only corollary dietary advice is subject to the current review. Population studies that have included reliable evaluation of fat intake have indicated almost consistently blood pressure lowering with consumption of marine oils and fats. Results with vegetable oils are inconclusive. However dietary patterns that included total fat reduction and changes in the nature of vegetable fats/oils have suggested beneficial effects on blood pressure. Plant-based foods, dairy foods and yoghurt particularly, may also lower blood pressure irrespective of fat content. Total fat consumption is not directly associated with blood pressure except when it is part of a weight loss diet. Consumption of marine oils has mostly shown moderate blood pressure lowering and possibly greatest effect with docosahexaenoic acid-rich oil.

Population neuroscience recognises the role of the environment in shaping brain, behaviour, and mental health. An overview of current evidence from neuroscientific and epidemiological studies highlights the protective effects of nature on cognitive function and stress reduction, the detrimental effects of urban living on mental health, and emerging concerns relating to extreme weather events and eco-anxiety. Despite the growing body of evidence in this area, knowledge gaps remain due to inconsistent measures of exposure and a reliance on small samples. In this chapter, attention is given to the physical environment and population-level studies as a necessary starting point for exploring the long-term impacts of environmental exposures on mental health, and for informing future research that may capture immediate emotional and neural responses to the environment. Key data sources, including remote sensing imagery, administrative, sensor, and social media data, are outlined. Appropriate measures of exposure are advocated for, recognising the value of area-level measures for estimating exposure over large study samples and spatial and temporal scales. Although integrating data from multiple sources requires consideration for data quality and completeness, deep learning and the increasing availability of high-resolution data present opportunities to build a more complete picture of physical environments. Advances in leveraging detailed locational data are discussed as a subsequent approach for building upon initial observations from population studies and improving understanding of the mechanisms underlying behaviour and human-environment interactions.

UNASSIGNED: To examine first-time depression, anxiety, stress disorders or psychotropic drug prescriptions within one year after incident heart failure (HF).
UNASSIGNED: Nationwide Epidemiological registry study.
UNASSIGNED: National patient registries.
UNASSIGNED: Patients in Denmark with a first-time HF diagnosis during 2005–2015.
UNASSIGNED: None.
UNASSIGNED: Incidences of depression, anxiety, stress disorders or first-time prescription of a psychotropic drug were determined.
UNASSIGNED: A total of 94,712 HF patients and 473,560 matched controls were included (median age 74.0 [64.0–81.0] years, 60.8 % males). At one year after incident HF, 11.9 % met the primary composite endpoint (depression, anxiety, or stress disorders or prescription of related psychotropic drugs), with 8.6 % outpatients and 13.3 % in-patients, versus 2.4 % of the controls. Starting psychotropic medication accounted for most of the composite endpoint events, as 11.6 % of the HF patients started antidepressants, anxiolytics, hypnotics, or sedative drugs (2.4 % among controls), while 0.6 % received a registered diagnosis of depression, anxiety, or stress disorder (<0.1 % among controls). The relative risk of psychotropic drug prescriptions in HF patients versus controls (standardized to the age, sex, and selected comorbidity distributions of all included subjects) was 3.85 [95 % CI 3.73–3.98]. The corresponding relative risk for one of the psychiatric diagnoses was 12.90 [95 % CI 10.60–15.19].
UNASSIGNED: A substantial part of patients with newly diagnose heart failure started treatment with psychotropic drugs whereas only a small fraction was registered with depression, anxiety, or stress disorders within one-year follow-up. The incidences were significantly higher than in the background population.

UNASSIGNED: Longitudinal studies are essential to understand the ageing process, and risk factors and consequences for disorders, but attrition may cause selection bias and impact generalizability. We describe the 1930 cohort of the Gothenburg H70 Birth Cohort Studies, followed from age 70 to 88, and compare baseline characteristics for those who continue participation with those who die, refuse, and drop out for any reason during follow-up.
UNASSIGNED: A population-based sample born 1930 was examined with comprehensive assessments at age 70 (N = 524). The sample was followed up and extended to increase sample size at age 75 (N = 767). Subsequent follow-ups were conducted at ages 79, 85, and 88. Logistic regression was used to analyze baseline characteristics in relation to participation status at follow-up.
UNASSIGNED: Refusal to participate in subsequent examinations was related to lower educational level, higher blood pressure, and lower scores on cognitive tests. Both attrition due to death and total attrition were associated with male sex, lower educational level, smoking, ADL dependency, several diseases, poorer lung function, slower gait speed, lower scores on cognitive tests, depressive symptoms, and a larger number of medications. Attrition due to death was also associated with not having a partner.
UNASSIGNED: It is important to consider different types of attrition when interpreting results from longitudinal studies, as representativeness and results may be differently affected by different types of attrition. Besides reducing barriers to participation, methods such as imputation and weighted analyses can be used to handle selection bias.

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