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Ataxia telangiectasia (A-T), caused by biallelic variants in the ATM 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 Universi
OBJECTIVE: To analyse survival rates and causes of death in adults with spina bifida in Sweden compared with a matched control group.DESIGN AND METHODS: This population-based study included 11,900 adults born between 1950 and 1997. Three national Swedish registers were used to identify individuals with a diagnosis of spina bifida and a matched control group without spina bifida in the period 1990-
Context: Residential care homes (RCHs) are a common place of death. Previous studies have reported a high prevalence of symptoms such as pain and shortness of breath among residents in the last week of life. Objectives: The aim of the study was to explore the presence of symptoms and symptom relief and identify factors associated with symptom relief of pain, nausea, anxiety, and shortness of breat
Purpose: Infective endocarditis (IE) is diagnosed using the Duke criteria, which were updated in 2023. In the Duke-ISCVID 2023 criteria, Gemella was recognised as a typical IE pathogen. This study investigates the impact of this change and compares the clinical characteristics of Gemella IE to IE caused by other pathogens. Methods: Data on IE caused by Gemella species and other pathogens was retri
Every year, millions of Australian Bogong moths (Agrotis infusa) complete an astonishing journey: In Spring, they migrate over 1,000 km from their breeding grounds to the alpine regions of the Snowy Mountains, where they endure the hot summer in the cool climate of alpine caves. In autumn, the moths return to their breeding grounds, where they mate, lay eggs and die. These moths can use visual cue
Aim The aims were to investigate survival of children with cerebral palsy (CP) and to search for modifiable factors that influence survival in CP. Method The total population of children with CP in southern Sweden born between 1990 and 2005, and followed from 1994 to 2010 comprised 718 children. The study included 708 of these children (297 females, 411 males) participating in a secondary preventi
Statins are generally well tolerated and shown to have a good safety profile. In clinical trials a similar proportion of patients randomized to statins and placebo treated developed abnormal liver tests. However, idiosyncratic drug-induced liver injury (DILI) is a rare adverse reaction and clinical trials are underpowered to detect uncommon side effects. Although probably very rare, idiosyncratic
Aims: To assess the impact of sampling bias due to reported as well as unreported exclusion of the target population in a multi-center randomized controlled trial (RCT)of ST-elevation myocardial infarction (STEMI). Methods and Results: We compared clinical characteristics and mortality between participants in the DANAMI-3 trial to contemporary non-participants with STEMI using unselected registrie
Objective. Involvement of the gastrointestinal (GI) tract is a rare complication of granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA). The aim was to describe frequency, diagnosis, treatment, and outcome of GI disease in a large series of patients in a single center. Methods.A database that includes all patients with GPA and MPA diagnosed since 1997 in a defined area of sou
Background and purpose Positron emission tomography (PET) provides quantitative metabolic information and potential biomarkers of treatment outcome. We aimed to determine the prognostic value of early 18F-fluoroethyl-tyrosine (18F-FET) PET scans acquired during re-irradiation for recurrent high-grade glioma (HGG). Material and methods A phase I clinical trial of re-irradiation of HGG was carried o
OBJECTIVE: The aim of this study was to compare and validate the different classifications of severity in acute pancreatitis (AP) and to investigate which characteristics of the disease are associated with worse outcomes. SUMMARY OF BACKGROUND DATA: AP is a heterogeneous disease, ranging from uneventful cases to patients with considerable morbidity and high mortality rates. Severity classification
Objectives: Irreversible electroporation (IRE) is a new modality for tumor ablation. Electrodes are placed around the tumor, and a pulsed, direct current with a field strength of 2000 V/cm is delivered. The direct current drives cells into apoptosis and cell death without causing significant heating of the tissues, which spares the extracellular matrix and proteins. The purpose of this review was
Knowledge about the natural history of severe alpha 1-antitrypsin (AAT) deficiency (PiZZ) is limited. Our aim was to compare the survival of PiZZ individuals with randomly selected controls from the Swedish general population. The PiZZ subjects (n=1585) were selected from the Swedish National AATD Register. The controls (n=5999) were randomly selected from the Swedish population register. Smoking
Background More than half of cardiovascular mortality occurs outside the hospital, mainly due to consistently low survival rates from out-of-hospital cardiac arrest. Methods This is a prospective, nested, case-control study derived from the Västerbotten Intervention Programme and the World Health Organization's Multinational Monitoring of Trends and Determinants in Cardiovascular Disease study in
A fully integrated remote antenna unit (RAU) intended for fiber-fed distributed multiple-input multiple-output systems is presented. The circuit is designed for narrowband (60 MHz) time-division duplex systems, where an IF over fiber approach is chosen to facilitate the use of low-cost optical components and integrated photodetectors. A novel antenna switch control scheme is introduced, which enab
The aim of this study was to describe the clinical characteristics in relation to final amputation level in diabetic patients with foot ulcers. In a prospective series, 187 consecutively presenting patients were investigated. From admission until final outcome, the patients were treated by a multidisciplinary team both as in- and out-patients. All the patients had one or more signs of neuropathy a
Calculated triplet excited state potential energy surfaces are presented for a set of three bis-tridentate Ru(II)-polypyridyl dies covering a wide range of room temperature excited state lifetimes: [Ru(II)(tpy)(2)](2+), 250 ps; [Ru(II)(bmp)(2)](2+), 15 ns; and [Ru(II)(dqp)(2)](2+), 3 mu s (tpy is 2,2':6',2 ''-terpyridine, bmp is 6-(2-picoly1)-2,2'-bipyridine, and dqp is 2,6-di(quinolin-8-yl)Fridin
Objective/Background: Reports on heart failure (HF) predictors are scarce. We assessed gender-specific HF predictors. Design: Preventive case-finding programme, register study. Setting: City population-based sample. Methods: We examined 33,342 HF-free subjects, 32.7% women, included in Malmo Preventive Project. Mean inclusion age was 49.7±7.4 years for women and 43.7±6.6 years for men. Results
Impairments in the capacity of dopaminergic neurons to handle cytoplasmic dopamine may be a critical factor underlying the selective vulnerability of midbrain dopamine neurons in Parkinson's disease. Furthermore, toxicity of alpha-synuclein in dopaminergic neurons has been suggested to be mediated by direct interaction between dopamine and alpha-synuclein through formation of abnormal alpha-synucl
