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High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification

Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin et al. • HGG Advances (2023)

Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block ...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.xhgg.2022.100156

Divergent biological consequences of APOE isoforms across industrialized and non-industrial environments.

Marina M Watowich, Rachel M Petersen, Layla Brassington, Audrey M Arner et al. • PLoS Genetics (2026)

The apolipoprotein ε4 (APOE ε4) isoform directly alters cholesterol and immune biology and is associated with an increased risk of neurodegenerative and cardiometabolic disease in industrialized settings; nevertheless, APOE ε4-which is ance...

DOAJ Open Access (DOAJ) DOI: 10.1371/journal.pgen.1012285

Genetic impact of non-consanguineous marriages in Saudi Arabia.

Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie et al. • Journal of Biochemical and Clinical Genetics (2022)

Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Mor...

DOAJ Open Access (DOAJ) DOI: 10.24911/JBCGenetics/183-1664872492

Evaluation of Occupational Accidents in the Forestry Sector Using Standardized Accident Rates: The Case of Türkiye

Tuncay Narin, Mustafa Eryüksel • Düzce Üniversitesi Bilim ve Teknoloji Dergisi (2026)

This study examines work accidents that occurred in the “Forestry and Industrial and Fuel Wood Production” sector in Türkiye between 2007 and 2024. In the research, the number of insured persons, the number of workplaces, and work accident ...

DOAJ Open Access (DOAJ) DOI: 10.29130/dubited.1880400

Comparative analysis of chemical toxicological studies of pregabalin in neuropathic pain management (review)

Nargiz Parkhatkyzy, Alma Shukirbekova, Zumrad Usmanalieva, Kundyzay Mirzakir et al. • Journal of Pharmacy & Pharmacognosy Research (2026)

Context: The use of pregabalin in neuropathic pain management has been increasingly associated with concerns regarding toxicity, particularly in cases of overdose, misuse, and co-exposure with central nervous system depressants. In parallel...

DOAJ Open Access (DOAJ) DOI: 10.56499/jppres_14.3.2550

Lipofuscin: Wear Pigment or Alarm Signal for Cardiac AlloGraft Vasculopathy?

Anca Otilia Farcas, Mihai Ciprian Stoica, Septimiu Voidazan, Carmen Corina Radu et al. • Diagnostics (2026)

Background: CAV (cardiac allograft vasculopathy) is considered the leading cause of late post-transplant mortality and affects approximately 50% of transplant patients at 10 years post-transplant. Its etiopathogenetic mechanism is considere...

DOAJ Open Access (DOAJ) DOI: 10.3390/diagnostics16152432

Building evidences in Public Health Emergency Preparedness (“BePHEP” Project)—a systematic review

Michelangelo Mercogliano, Gloria Spatari, Chiara Noviello, Francesca Di Serafino et al. • International Journal for Equity in Health (2025)

Abstract Introduction Humanitarian crises exacerbate the vulnerability of already fragile healthcare systems and significantly increase the risk of infectious disease outbreaks in low- and middle-income countries (LMICs). This systematic re...

DOAJ Open Access (DOAJ) DOI: 10.1186/s12939-025-02382-w

Autism Spectrum Disorder and collective catering service: results of the pilot study FOOD-AUT

Maria Vittoria Conti, Sara Santero, Chiara Breda, Sara Basilico et al. • Frontiers in Nutrition (2024)

ObjectiveIndividuals with Autism Spectrum Disorder (ASD) often exhibit a low dietary diversity due to food selectivity that leads them to a marked preference for high-energy-density food, exposing them to risk of malnutrition. Despite these...

DOAJ Open Access (DOAJ) DOI: 10.3389/fnut.2023.1298469

Development and Comprehensive Diverse-Matrix Evaluation of Four PAHs Using Solvent-Modified QuEChERS-GC-MS with Freeze-Out

Kyung-Jik Lim, Hyun-Jun Kim, Yu-Jin Heo, Han-Seung Shin • Foods (2025)

Polycyclic aromatic hydrocarbons (PAHs) are recognized carcinogens that enter the food chain through pre-existing environmental contamination (air, water, soil), and their formation and accumulation during food preparation and processing in...

DOAJ Open Access (DOAJ) DOI: 10.3390/foods14172979

Diet in 1-year-old farm and control children and allergy development: results from the FARMFLORA birth cohort

Karin Jonsson, My Green, Malin Barman, Agneta Sjöberg et al. • Food & Nutrition Research (2016)

Background: A farming environment confers strong protection against allergy development. We have previously shown that farming mothers consume more full-fat dairy than control mothers, who instead consume more low-fat dairy, margarine, and ...

DOAJ Open Access (DOAJ) DOI: 10.3402/fnr.v60.32721

Beverage Consumption Patterns and Their Association with Metabolic Health in Adults from Families at High Risk for Type 2 Diabetes in Europe—The Feel4Diabetes Study

Paris Kantaras, Niki Mourouti, Theodora Mouratidou, Ekaterini Chatzaki et al. • Endocrines (2024)

In total, 3274 adults (65.2% females) from six European countries were included in this cross-sectional analysis using data from the baseline assessment of the Feel4Diabetes study. Anthropometric, sociodemographic, dietary and behavioral da...

DOAJ Open Access (DOAJ) DOI: 10.3390/endocrines5030020

TRACK-CF prospective cohort study: Understanding early cystic fibrosis lung disease

Eva Steinke, Eva Steinke, Eva Steinke, Olaf Sommerburg et al. • Frontiers in Medicine (2023)

BackgroundLung disease as major cause for morbidity in patients with cystic fibrosis (CF) starts early in life. Its large phenotypic heterogeneity is partially explained by the genotype but other contributing factors are not well delineated...

DOAJ Open Access (DOAJ) DOI: 10.3389/fmed.2022.1034290

What motivates SARS-CoV-2 vaccine trial participants? A pre- and post-participation survey study

Olivia A. C. Lamers, Meta Roestenberg, Martine C. de Vries, Marie-Astrid Hoogerwerf • Trials (2024)

Abstract Background Scientific advancement, including the testing and licensing of new drugs, relies heavily on clinical trials with healthy individuals. The motivations of clinical trial participants have been discussed intensively, as som...

DOAJ Open Access (DOAJ) DOI: 10.1186/s13063-024-08582-z

DNA polymorphisms in inflammatory and endocrine signals linked to frailty are also associated with obesity: data from the FRASNET cohort

Sarah Damanti, Sarah Damanti, Lorena Citterio, Laura Zagato et al. • Frontiers in Endocrinology (2024)

BackgroundObesity and frailty are prevalent geriatric conditions that share some pathophysiological mechanisms and are associated with adverse clinical outcomes. The relationship between frailty, obesity, and polymorphism remains inadequate...

DOAJ Open Access (DOAJ) DOI: 10.3389/fendo.2024.1412160

Evaluation of clinical quality improvement interventions: feasibility of an integrated approach

Sandeep Reddy, Kevin Mc Namara, Mary Malakellis, Tim Denton et al. • Pilot and Feasibility Studies (2019)

Abstract Background Cardiovascular diseases (CVD) are the largest cause of death and disability in Australia. Australian national guidelines for the primary prevention of CVD recommend that all adults without CVD and aged 45 years or more a...

DOAJ Open Access (DOAJ) DOI: 10.1186/s40814-018-0386-1

Lipid profile in elderly and centenarian subjects in Kazakhstan: a case-control study

Yu. Ganzhula, Zh. Borykbay, V. Tkachev, S. Urazova et al. • Central Asian Journal of Medical Hypotheses and Ethics (2024)

Introduction. The health of centenarians is a major focus in global studies. Dyslipidemia is directly linked to the risk of cardiovascular diseases, which pose a growing burden on healthcare due to the increasing elderly population. Studyin...

DOAJ Open Access (DOAJ) DOI: 10.47316/cajmhe.2024.5.3.04

Effect of falls prevention interventions on falls and the risk factors for falls among cancer survivors: protocol for a systematic review

Lynette Mackenzie, Amanda M. Clifford, Eleanor Fallon, Joanna M. Allardyce • BMJ Open (2026)

Introduction Falls are a significant health concern and associated with cancer survivorship. Falls can result in negative psychosocial consequences for cancer survivors and economic sequelae for healthcare delivery. There are cancer-specifi...

DOAJ Open Access (DOAJ) DOI: 10.1136/bmjopen-2025-110212

Negative emissions technologies and practices could challenge global resource supply and environmental limits

Selene Cobo, Ángel Galán-Martín, Gonzalo Guillén-Gosálbez • Communications Earth & Environment (2026)

Abstract Meeting climate goals will most likely require large-scale carbon dioxide removal, yet its sustainability implications remain poorly understood. Here, we conduct a prospective life cycle assessment of multiple negative emissions te...

DOAJ Open Access (DOAJ) DOI: 10.1038/s43247-026-03348-8