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Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are

Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA. Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and m

The birth prevalence of cleft lip and/or palate (CL/P) varies globally, and regional differences have previously been observed within Sweden. Updated data on CL/P birth prevalence is needed and has been requested nationally and internationally. This study investigated regional differences and temporal trends in the birth prevalences of CL/P and specific cleft subtypes across Sweden’s six health ca

Near infrared (NIR) fluorescence imaging has received significant attention. However, it remains challenging to develop NIR emitters with a high brightness. Herein, we report a supramolecular approach to formulate NIR fluorescent molecular nanoparticles from cationic NIR fluorophores and cyanostar receptors using their charge-by-charge packing in small-molecule ionic isolation lattices (SMILES). F

This dissertation focuses on Aceh Chinese’s lived experiences in Aceh, an Indonesian province marked by repeated violence and major social changes. These include the 1965–1966 anti-communist mass killings, the protracted conflict between the Free Aceh Movement (GAM) and the Indonesian state, the devastation of the 2004 tsunami, and the implementation of Shariʿa law. It addresses how the community

INTRODUCTION: Blood-based biomarkers have demonstrated high accuracy for identifying Alzheimer's disease (AD) pathology. However, the lack of representative cohorts creates a knowledge gap regarding their real-world applicability. We examined the influence of ethnicity on the diagnostic accuracy of plasma tau phosphorylated at threonine 217 (p-tau217) in identifying AD. METHODS: A total of 1170 mi

To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respective

Context. Studies of the internal kinematics of the LMC have provided a detailed view of its structure, largely thanks to the exquisite proper motion data supplied by the Gaia mission. However, line-of-sight (LoS) velocities, the third component of the stellar motion, are only available for a small subset of the current Gaia data, thus limiting studies of the kinematics perpendicular to the LMC dis

ImportanceThe genetic variation in patients with sensorineural hearing loss (SNHL) in the Nordic countries has not been previously reported.ObjectivesThe aim was to describe the genetic variation in a Swedish population and identify factors in favor of a high diagnostic yield.DesignThis was a prospective cohort study. Children with bilateral SNHL and adults with bilateral SNHL and clinically suspe

Purpose: To investigate the rates of knee reoperation and medical complications after meniscal repair versus partial meniscectomy (APM) up to 10 years after surgery. Methods: All patients ≥ 15 years old operated for a meniscal tear with meniscus repair or partial meniscectomy at Scania University Hospital were included, between year 2010 and 2014. Information was retrieved from patient records unt

Land use change threatens global biodiversity and compromises ecosystem functions, including pollination and food production. Reduced taxonomic α-diversity is often reported under land use change, yet the impacts could be different at larger spatial scales (i.e., γ-diversity), either due to reduced β-diversity amplifying diversity loss or increased β-diversity dampening diversity loss. Additionall

Motivation Efforts to address health disparities are often limited by the lack of robust computational tools for inferring genetic ancestry by calculating an individual's genetic similarity to continental groups. We have already shown that a preferred alternative to self-described race is using ancestry-informative markers (AIMs) that can be classified into ancestral components and used to estimat

Magnetic resonance imaging (MRI) enables non-invasive monitoring of healthy brain development and disease. Widely used higher field (>1.5 T) MRI systems are associated with high energy and infrastructure requirements, and high costs. Recent ultra-low-field (<0.1 T) systems provide a more accessible and cost-effective alternative. However, it remains uncertain whether anatomical ultra-low-field neu

This study examines the effectiveness of LU-PZE, a web-based interactive tool designed to help students visualize and interact with fundamental concepts in automatic control. A total of 200 students enrolled in an introductory course on automatic control had the option to use LU-PZE as an additional resource for learning. LU-PZE offers users randomized quizzes, structured assignments, and real-tim

Introduction As care and rehabilitation poststroke are increasingly moving into persons’ home environment, the importance of support from social networks in self-management and rehabilitation has emerged as an important topic for research and practice. While there are instruments used to assess social support and collective efficacy, a clearer scope of the availability and quality of these instrum

We investigated the element-specific electronic structure and charge-carrier dynamics of a single-crystal ferromagnet CoS2 with complementary x-ray spectroscopy techniques. Hard x-ray photoemission (HAXPES) is used to provide crucial information on the bulk electronic structure and chemical bonding in CoS2 that is compared against the isoelectronic paramagnet CoSe2. The Co 1s core-level line shows

Purpose: This systematic literature review aims to develop a comprehensive understanding of effort as a multidimensional construct in individuals with impaired swallowing and/or spoken communication. Method: A comprehensive literature search was conducted across three data-bases: PubMed/MEDLINE, Embase, and CINAHL, covering publications from 1966 to 2024. The search included terms related to commu