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Purpose: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). Methods: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). Results: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) vari
High titer ethanol production from rice straw using Mucor indicus fungus was investigated through the solid-state simultaneous saccharification and fermentation (SSSF) process. The straw was pretreated with 0.5 M sodium carbonate solution for 3, 5, and 10 h to improve the efficiency of the process. Effects of the pretreatment on the composition, structural morphology, cellulose crystallinity, swel
Faced with environmental degradation, governments worldwide are developing policies to safeguard ecosystem services (ES). Many ES models exist to support these policies, but they are generally poorly validated, especially at large scales, which undermines their credibility. To address this gap, we describe a study of multiple models of five ES, which we validate at an unprecedented scale against 1
PURPOSE: To investigate the: (1) percent of children with spina bifida (SB) complaining of pain, (2) frequency, duration, and cause of pain by sex, level of lesion type of SB, and ambulation status, (3) body sites reported to hurt, by variables in objective 2, and (4) associations between physical and mental/emotional health between caregiver and child.METHODS: Cross-sectional study of 101 caregiv
Introduction: The screening program for cervical cancer in Sweden recommends the use of primary human papillomavirus (HPV) screening for women aged ≥30 to 65 years. Co-testing with both HPV analysis and cytology is recommended at the first screening after the age of 40 years. To fulfil co-testing, all screened women aged 40–42 years within the region of Skåne were co-tested. The aim of the audit w
This chapter aims to challenge heterosexual norms in society by analyzing heterosexual families when confronted with the coming out of one of their children. Starting with the essentialist construction of identities and gender norms supported by the symbolic structure of the natural and traditional (straight) family, we reconstruct paths and dynamics of the response that heterosexual parents give
Purpose – The purpose of this paper is to hypothesize that value-driven purchasing of customized kitchen cabinets is more profitable than market-driven purchasing in industrialised housing construction. The hypothesis is examined through a case study of kitchen carpentry at one of the Sweden's largest producers of industrialised prefabricated multi-storey housing. By comparing characteristics of m
The incidence of melanoma is rising and will require more efficient diagnostic procedures to meet a growing demand. Excisional biopsy and histopathology is still the standard, which often requires multiple surgical incisions with increasing margins due inaccurate visual assessment of where the melanoma borders to healthy tissue. This challenge stems, in part, from the inability to reliably delinea
In liquid-liquid chromatography (LLC), components of a mixture are separated due to their different distribution between the phases of a biphasic liquid system composed of two or more solvents. In this work, for the first time, we combine a chromatography model with a liquid-liquid equilibria thermodynamic model to simulate the propagation of the solute and the solvents along the LLC column. The m
BACKGROUND: We hypothesized that the main barriers to integrating exercise in routine care of patients with chronic kidney disease (CKD) were structural within European healthcare systems rather than due to resistance among healthcare professionals or patients.MATERIALS AND METHODS: This descriptive cross-sectional study used anonymized questionnaires to investigate nurses' and physicians' attitud
During recent years the increasing power of computers has led to the use of more sophisticated analysis tools within the mechanical engineering design process, or design process for short. Projects whose objective has been to introduce the Finite Element (FE) analysis into the early phases of the design process have been carried out at the Department of Machine Design, see e.g. [1]. These works cl
Adaptive controllers are traditionally based on the principle of separation of estimation and control. Many design methods can be interpreted as pole-placement design. One drawback with this approach is that the controllers often are of the same order as the order of the process to be controlled. In this paper an adaptive controller based on a frequency domain method is presented. The idea is to o
1996-11-06 SACO-rådet Region Gotland Protokoll SACO Rådsmöte Måndagen den 7 november 2022, KL: 17.30 I Lokalerna på SACOs kontoret. Närvarande: Tommy Marquart, Cecilia Westberg, Johan Kallum, Anna Fagerberg, Eva Hällgren, Regina Göbel och Linda Rung 1. Mötet öppnades av ordförande Tommy Marquart 2. Dagordning godkändes 3. Genomgång av tidigare protokoll 4. Rundan/Arbetsmiljö: HSF: Nya chefen slu
Children's outdoor play and access to nature are important for their health and development of environmental agency but there is a global decline of green spaces available to them. The aim is to explore the possibilities of creating nature-based outdoor settings for play and learning which benefit children as well as the wildlife and wider ecosystems. A fieldwork on developing nature based play se
Radiation resistant inorganic materials emitting cross-luminescence are one of the most prospective candidates for new generation ultrafast detectors for medical tomography. Radiative transitions leading to cross-luminescence occur between valence and core states, and therefore calculations of the electronic structure of doped materials can explain ultrafast transitions and predict new cross-lumin
Objective: Emergency complex abdominal aortic diseases are challenging to treat. During in situ laser fenestration (ISLF), aortic branches are covered and flow is restored by in situ fenestration of the stent graft, with promising midterm results. This study aimed to expand on the limited body of knowledge of midterm outcomes of ISLF in renovisceral aortic pathology in a multicentre setting. Metho
The purpose of this essay was to study what knowledge and understanding social workers think they have when it comes to honor-related problems and how they handle cases with these issues. We made a qualitative study and interviewed six social workers who work with young people and honor issues. We also did an interview with Maria Hagberg, who is a main figure and author in the field. To analyze th
Summary Report - Swedish Scholarly Delegation to China 2024 Summary - Swedish Scholarly Delegation to China 2024 1 Bridging Borders for Global Sustainability Governance: Lund University Leads Groundbreaking Scholarly Delegation to China In a significant stride towards global sustainability, an inter-university and interdisciplinary delegation of Swedish scholars, spearheaded by Lund University’s D
