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Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding of multiple G-->A transitions of the first base of the donor splice site of IVS 3 (+ 1G-->A) in IGHD II subjects from three nonrelated kindreds from
Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent
Aims Previous studies on disparities in healthcare and outcomes have shown conflicting results. The aim of this study was to assess differences in baseline characteristics, management, and outcomes in myocardial infarction (MI) patients, by country of birth. Met hods a nd results In total, 194 259 MI patients (64% male, 15% foreign-born) from the nationwide SWEDEHEART (The Swedish Web-system for E
This study investigates the knowledge transfer from interdisciplinary research on Circular Economy (CE) to classical academic disciplines (ADs) such as Engineering, Economics, Geography, and Management. Despite the prolific publication of CE research in interdisciplinary journals, there is a notable discrepancy in its integration into traditional AD journals. Utilizing a bibliometric analysis of 2
The role of natural marine aerosols in the global climate system remains understudied and uncertain. This is true for the emissions of natural volatile compounds over the ocean, the oxidation of said compounds and their impact on particle formation and particle growth. In this thesis, the emission, chemistry and aerosol particle processes relating to these compounds were studied using different pr
We present high spectral resolution observations of the hot Jupiter WASP-94 A b using the HARPS instrument on ESO’s 3.6-m telescope in La Silla, Chile. We probed for Na absorption in its atmosphere as well as constrained the previously reported misaligned retrograde orbit using the Rossiter–McLaughlin effect. Additionally, we undertook a combined atmospheric retrieval analysis with previously publ
Many performance sport passenger vehicles use drilled or grooved cast iron brake rotors for a better braking performance or a cosmetic reason. Such brake rotors would unfortunately cause more brake dust emission, appearing with dirty wheel rims. To better understand the effects of such brake rotors on particle emission, a pin-on-disc tribometer with two particle emission measurement devices was us
Purpose: To study the trend of delayed sequential bilateral cataract surgery (DSBCS) in Sweden in the past decade. Methods: This register-based cohort study utilized data from the Swedish National Cataract Register (NCR) from 2010 through 2019. Register files from patients who underwent cataract surgery in both eyes during the study period were linked using their social security numbers. Bilateral
Background: People with chronic inflammatory arthritis (IA) often have a reduced work ability. Consequently, they are at high risk of losing their jobs and being permanently excluded from the labor market. Therefore, we developed a new context-specific vocational rehabilitation intervention for people with IA based on the Medical Research Council’s framework for complex interventions. This interve
In this work, numerical investigations were performed using large eddy simulations and validated against detailed measurements in the CeCOST swirl stabilised burner. Both cold and reactive flow have been studied and the model has shown a good agreement with experiments. The verification of the model was done using the LES index of quality and a single grid estimator. The cold flow simulations pred
Introduction: The Swedish Sleep Apnea Registry (SESAR) collects clinical data from individual obstructive sleep apnea (OSA) patients since 2010. SESAR has recently been integrated with additional national healthcare data. The current analysis presents the SESAR structure and representative clinical data of a national sleep apnea cohort. Methods: Clinical data from unselected patients with a diagno
Evidence suggests that separate spheres gender norms discourage girls from maths. We therefore examine a policy that counteracts such norms among parents, and investigate whether it increases girls' participation in maths-intensive studies. Specifically, we examine a parental leave reform that reserved one month of leave for fathers, and estimate its effect on children's study choices. We find tha
Changes in biomarker levels of Alzheimer’s disease (AD) reflect underlying pathophysiological changes in the brain and can provide evidence of direct and downstream treatment effects linked to disease modification. Recent results from clinical trials of anti–amyloid β (Aβ) treatments have raised the question of how to best characterize the relationship between AD biomarkers and clinical endpoints.
Background: Inflammation significantly impacts Parkinson’s disease (PD), yet the intricate relationship between inflammatory markers and PD remains elusive. Objective: To identify the peripheral biomarkers of PD and its correlation with the motor and non-motor symptoms of PD. Methods: 79 PD patients and 65 controls were included in this study. Clinical information and the serum levels of IL-8, IL-
Background: In recent years, fighting arts (e.g., Karate, Judo, Jujitsu, Boxe) have gained broader attention due to their multiple benefits, involving both physical and psychological enhancements for practitioners. Despite that, studies revolving around specific psychological characteristics such as personality traits are scarce. This study explored potential connections between the personality tr
Background In adults with serious respiratory illness, breathlessness is prevalent and associated with reduced health-related quality of life. The aim of this review was to assess the impact of breathing techniques on breathlessness in adults with serious respiratory illness. Methods Electronic databases were searched to identify randomised controlled trials testing breathing techniques (technique
A growing body of studies focuses on sexual harassment and violence in nightlife venues, primarily as it affects adolescent and adult women. In these settings, the boundary between flirtation and unwanted sexual attention easily blurs. This study examines how young women reject such attention. It draws on in-depth interviews with 53 Spanish undergraduates aged 18 to 25 from a Madrid public univers
