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Background Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. Methods Genetic variants and clinical findings (a
PURPOSE: This study aimed to examine the associations between the intake of high- and low-fat fermented dairy (cheese and fermented milk), their proteomic profiles, and mortality risk.METHODS: This cohort study included 25,187 participants (mean age 57.7 years, 60.9% females). Fermented dairy intake was assessed by a modified diet history method. In a random subset of this cohort (n = 4359), we co
BACKGROUND: Post-acute sequelae of SARS-CoV-2 infection, or long COVID, include diverse symptoms and remain a major concern worldwide. This study investigates the occurrence of depression, anxiety, fatigue, and headache 1 year prior to the COVID-19 pandemic (2019), 12 months prior to, and 6 months after long COVID diagnosis in individuals diagnosed with long COVID and matched population-based cont
Background: We set out to profile the immune mechanisms active in treatment-naïve oligoarticular JIA (oJIA) to improve the knowledge of its immunopathogenesis, to identify potential biomarkers that can aid diagnosis, predictions and that correlate with clinical disease parameters. Methods: Using Olink proteomics (inflammation panel measuring 92 markers), we defined and compared the inflammation pr
Background: Amyotrophic lateral sclerosis (ALS) is invariably fatal but there are large variations in the rate of progression. The lack of predictability can make it difficult to plan clinical interventions. This includes the requirement for gastrostomy where early or late placement can adversely impact quality of life and survival. Methods: We designed a model to predict the timing of gastrostomy
Objective: To investigate the development of sexual activity, sexual function, and body image in women with primary vulvar cancer from the time of diagnosis to 24 months after the end of treatment. Methods: This nationwide prospective cohort study assessed health-related quality of life in women with newly diagnosed vulvar cancer using validated patient-reported outcome measures (EORTC-QLQ-VU34 [E
Objective: To estimate the probability of vaginal events (diagnosis and/or surgery) following radical cystectomy (RC) and explore possible risk factors in a nationwide population-based observational registry based study. Patients and Methods: Women undergoing RC for urinary bladder cancer in Sweden, from 1 January 1997 to 31 December 2019, were identified within national registries. Women with any
Objective Individuals with SLE commonly report chest pain or discomfort. We performed cardiovascular magnetic resonance (CMR) to differentiate coronary artery disease (CAD), coronary microvascular dysfunction (CMD), pericarditis and myocarditis in individuals with SLE who presented with chest symptoms. We also assessed the clinical utility of CMR. Methods Adults with SLE were included if reporting
INTRODUCTION: In Sweden, most older adults continue to age in dwellings they have lived in for many years, with a small proportion relocating. Longitudinal studies examining relocation histories, especially among younger old adults and those beyond frail populations, are scarce. This study aimed to describe individuals who stayed in their homes (stayers) and those who relocated (movers) while iden
Background: Influenza ranges from a mild and self-limiting infection to a life-threatening disease with high mortality despite intensive care. Conclusive data on the association between influenza type/subtype and mortality among adults treated at intensive care units (ICU) is lacking. Objectives: To investigate the mortality in adults admitted to ICU with laboratory-confirmed influenza during thre
Objective: To evaluate the impact of pregestational diabetes on duration of active labour (DAL) in induced and spontaneous labour and to compare caesarean section (CS) rates and indications between women with and without diabetes. Design: A population-based cohort study. Setting: Sweden. Population: 243 537 nulliparous women, registered in the Swedish Pregnancy Register, who delivered a singleton
Background Although the role of smoking as a risk factor for emphysema in α1-antitrypsin deficiency (AATD) is well known, never-smokers with severe AATD may also develop lung disease, ranging from mild asymptomatic disease to severe emphysema. Methods We performed a cross-sectional and observational study to analyse the characteristics of the population of never-smoker severe AATD (genotype) indiv
PURPOSE: The incidence of colorectal cancer (CRC) is increasing in individuals aged < 50 years of age. This study aimed to examine whether high-frequency follow-up after CRC surgery reduces 5-year overall mortality, cancer-specific mortality and recurrence in patients with CRC aged ≤ 50 years. METHODS: The COLOFOL trial performed between 2006 and 2010 was used to analyse patients randomised to hig
Objective: To characterize patients with protein-losing enteropathy (PLE) diagnosed before age 18 years within a nationwide Swedish Fontan cohort. Methods: Surgical records and medical charts were reviewed for all patients born after January 1, 1993, who underwent Fontan completion before January 1, 2021. Results: Among 573 reviewed patients, 28 (4.8%) developed PLE. The median time to onset of PL
Industrial packaging plays an important role in the performance and environmental efficiency of supplychains. Despite it being so important, the implications that industrial packaging decisions have on thelogistics operations (and vice-versa) are not completely understood. This thesis contributes to theunderstanding of the impacts of sustainable industrial packaging by discussing the importance of
Little is known about risk factors for central nervous system (CNS) relapse in mature T-cell and natural killer cell neoplasms (MTNKNs). We aimed to describe the clinical epidemiology of CNS relapse in patients with MTNKN and developed the CNS relapse In T-cell lymphoma Index (CITI) to predict patients at the highest risk of CNS relapse. We reviewed data from 135 patients with MTNKN and CNS relaps
BACKGROUND: In Bangladesh, diarrhoea in children under-five is a major public health problem with cost implications. Although under-five diarrhoea mortality and morbidity have declined from 2007 to 2018, change in the economic burden is unknown. This study determined the change in the societal economic burden of under-five diarrhoea in Bangladesh comparing 2007 to 2018.METHODS: A prevalence-based,
PURPOSE: Cisplatin-based combination chemotherapy (CHT) is standard of care in metastatic urothelial cancer (mUC); however, no predictive molecular biomarkers are available for clinical use. The aim of this study was to investigate the impact of molecular subtypes in relation to treatment response and survival in patients with mUC treated with first-line CHT.PATIENTS AND METHODS: Molecular subtype
AIMS/HYPOTHESIS: The aim of this work was to explore molecular amino acids (AAs) and related structures of HLA-DQA1-DQB1 that underlie its contribution to the progression from stages 1 or 2 to stage 3 type 1 diabetes.METHODS: Using high-resolution DQA1 and DQB1 genotypes from 1216 participants in the Diabetes Prevention Trial-Type 1 and the Diabetes Prevention Trial, we applied hierarchically orga
