The clinical spectrum of ataxia telangiectasia in a cohort in Sweden.

Ataxia telangiectasia (A-T), caused by biallelic variants in the gene, is a multisystemic and severe syndrome characterized by progressive ataxia, telangiectasia, hyperkinesia, immunodeficiency, increased risk of malignancy, and typically death before the age of 30. In this retrospective study we describe the phenotype of 14 pediatric and adult A-T patients evaluated at the Karolinska University Hospital in Sweden during the last 12 years. Most of the patients in this cohort were severely affected by ataxia and wheelchair use started at a median age of 9 years.

Seizures in hospitalised paediatric patients with SARS-CoV-2 and comparison of severity with seizures in hospitalised paediatric patients with other respiratory viruses during the COVID-19 pandemic: a population-based cohort study.

Objective: To study seizures in patients hospitalised due to SARS-CoV-2 infection, and compare their severity with seizures in patients hospitalised due to other viral respiratory tract infections (RTIs).

Design: Observational population-based cohort study.

Setting: Northern Stockholm.

Prospective Evaluation of Childhood Encephalitis: Predisposing Factors, Prevention and Outcome.

Background: Acute encephalitis in childhood is a serious condition. The severity varies between studies, partly reflecting differences in study design where only severe cases from referral centers often are reported. The aim of this study was to prospectively study the clinical picture and etiology of acute encephalitis in childhood at a primary and tertiary pediatric hospital in Sweden.

Inter-rater reliability of the assessment of learning powered mobility use, version 2.0, when applied with children and adults engaged in Driving to Learn in a powered wheelchair.

Introduction: The Assessment of Learning Powered mobility use (ALP) tool including the ALP instrument and facilitating strategies, was developed for Driving to Learn. This therapeutic intervention aims to provide children and adults who have profound cognitive disabilities with opportunities to learn tool use through powered mobility practise. To allow for longer intervention periods, a partnership was developed between professionals supervising Driving to Learn and persons accompanying children or adults to their practice sessions.

Noise Exposure and Hearing Impairment in Air Force Pilots.

The goal of this study was to estimate noise exposure and hearing impairments in Swedish military pilots. It also aimed to analyze possible relations between noise exposure and hearing impairments. The study group was an open cohort of 337 male pilots.

Influence of well-known risk factors for hearing loss in a longitudinal twin study.

Objective: The aim was to investigate the influence of environmental exposures on hearing loss in a twin cohort.

Study Sample: Male twins born 1914-1958, representing an unscreened population, were tested for hearing loss at two occasions, 18 years apart.

Design: Clinical audiometry and a questionnaire were performed at both time points in this longitudinal study.

Oscillometric casual blood pressure normative standards for Swedish children using ABPM to exclude casual hypertension.

Background: Casual blood pressure (CBP) is considered a reliable proxy for cardiovascular health. Although the auscultatory technique is the reference standard method for measuring CBP, oscillometric devices are increasingly being used in children. We sought to establish oscillometric CBP normative standards for Swedish children.

[Compulsory outpatient treatment can prevent involuntary commitment].

Compulsory outpatient treatment (co-pt) has been possible in Denmark since 2010. The aim is to secure necessary treatment, reduce involuntary commitment and improve quality of life for patients with a severe psychiatric illness. Co-pt has been brought into use in 33 cases.

A comparison of occupational and nonoccupational noise exposures in Sweden.

This study was conducted to evaluate noise exposures and the contributions of occupational and nonoccupational activities among three groups of Swedish workers (office workers, day care workers, and military flight technicians), and to evaluate risk factors for elevated hearing threshold levels. Forty-five subjects were recruited across the three groups. Each subject completed a risk factor questionnaire along with Békésy audiometry at frequencies between 125 and 8000 Hz.

Participants' dynamic orientation to folder navigation when using a VOCA with a touch screen in talk-in-interaction.

This paper reports on a conversation-analysis case study of interaction between a child with cerebral palsy and an adult using a computer-based voice output communication aid (VOCA) device with a touch-sensitive screen-input system. Data was collected from video recordings of everyday activities at school. The public nature of the VOCA-mediated turn construction process (hand movements towards the screen, on-screen folder navigation, synthetic speech) displays the projection of the turn under way and its possible continuations.

Experiences of returning to work after acquired brain injury.

The purpose of this qualitative study was to explore experiences of returning to work after rehabilitation, from the viewpoint of people with acquired brain injury. A purposive sampling of eight informants was made, and data were collected through personal interviews with open questions. The data were then analysed through qualitative content analyses in five steps, resulting in four main categories of experiences: "A new person", "Stimulants and fellowship", "Understanding and support", and "To reach insight" with appurtenant sub-categories.

How to avoid glucose degradation products in peritoneal dialysis fluids.

Objective: The formation of glucose degradation products (GDPs) during sterilization of peritoneal dialysis fluids (PDFs) is one of the most important aspects of biocompatibility of glucose-containing PDFs. Producers of PDFs are thus trying to minimize the level of GDPs in their products. 3,4-Dideoxyglucosone-3-ene (3,4-DGE) has been identified as the most bioreactive GDP in PDFs.

Take care in how you store your PD fluids: actual temperature determines the balance between reactive and non-reactive GDPs.

Objective: During heat sterilization and during prolonged storage, glucose in peritoneal dialysis fluids (PDF) degrades to carbonyl compounds commonly known as glucose degradation products (GDPs). Of these, 3,4-dideoxyglucosone-3-ene (3,4-DGE) is the most cytotoxic. It is an intermediate in degradation between 3-deoxyglucosone (3-DG) and 5-hydroxymethyl-2-furaldehyde (5-HMF).

Beliefs and attitudes among Swedish workers regarding the risk of hearing loss.

The beliefs and attitudes regarding the risk of hearing loss and their impact on hearing protector use were investigated among Swedish workers. A questionnaire, developed by the US National Institute for Occupational Safety and Health (NIOSH), was used. The study objective was to assess workers' attitudes towards using hearing protection devices (HPDs) and to enhance the ability of workers to protect themselves from occupational hearing loss.

Audiometric findings in workers exposed to low levels of styrene and noise.

Audiometry and exposure measurements were conducted on workers from fiberglass and metal products manufacturing plants and a mail distribution terminal (N = 313). Workers exposed to noise and styrene had significantly worse pure-tone thresholds at 2, 3, 4, and 6 kHz when compared with noise-exposed or nonexposed workers. Age, noise exposure, and urinary mandelic acid (a biologic marker for styrene) were the variables that met the significance level criterion in the multiple logistic regression.

Survival factors regulating ovarian apoptosis -- dependence on follicle differentiation.

Only a minute fraction of the ovarian follicles present in a fetal ovary will complete the path to ovulation. Most of the follicles will undergo atresia, a hormonally controlled apoptotic process. Apoptosis occurs at each stage of follicular development and there is a marked reduction in the number of follicles present at birth.