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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
Lake water storage variations on the Tibetan Plateau (TP) serve as crucial indicators of regional hydrological dynamics and climate changes, providing more comprehensive insights than discrete measurements of lake area or water level alone. While accurate bathymetric data is fundamental for quantifying lake water storage, conventional bathymetric surveys are often constrained by logistical challen
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
Background: Over the past decade, several PET tracers were developed to visualise and quantify tau pathology in vivo. However, all these tracers have distinct off-target binding, different dynamic ranges and likely different levels of non-specific binding resulting in large variability in semiquantification. We propose to standardise the sampling and the quantification across all available tau tra
Background and aims The pathogenesis of abdominal aortic aneurysm (AAA) shares several common pathways with atherosclerosis. Prospective clinical plasma biomarker studies in AAA have been hampered by the need for very large cohorts and long follow-up time. Methods We analyzed a prospective longitudinal cohort of middle-aged individuals from the cardiovascular cohort of the Malmö Diet and Cancer st
High-risk (HR) human papillomavirus (HPV) infection is an established cause of malignant disease. We used a societal perspective to estimate the cost of HR HPV-related cervical, vulvar, vaginal, anal, and penile precancer and cancer, and oropharyngeal cancer in Sweden in 2006, 1 year before HPV vaccination became available in the country. Materials and methods This prevalence-based cost-of-illness
OBJECTIVE:: Caesarean section (C-section) is associated with various immune-mediated diseases in the offspring. We investigated the relationship between mode of delivery and celiac disease (CD) and CD autoimmunity (CDA) in a multinational birth cohort. METHODS:: From 2004 to 2010 infants from the general population who tested positive for HLA DR3-DQ2 or DR4-DQ8 were enrolled in The Environmental D
This study presents a 2-yr follow-up of 281 patients, aged 15-34 yr, diagnosed with diabetes between 1992 and 1993. At diagnosis, 224 (80%) patients were positive for at least one of the following autoantibodies: islet cell antibodies (ICAs), glutamic acid decarboxylase antibodies (GADAs), or tyrosine phosphatase antibodies (IA-2As); the remaining 57 (20%) patients were negative for all three auto
Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted lo
