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Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by dysfunctional osteoclasts. The disease is most often caused by mutations in the TCIRG1 gene encoding a subunit of the V-ATPase involved in the osteoclasts capacity to resorb bone. We previously showed that osteoclast function can be restored by lentiviral vector-mediated expression

Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis

Parkinson’s disease (PD) patients frequently develop cognitive impairment. There is a need for brief clinical assessments identifying PD patients at high risk of progressing to dementia. In this study, we look into predicting dementia in PD and underlying structural and functional correlates to cognitive decline in PD. We included 175 patients with PD, 30 with PD dementia, 51 neurologically health

An experimental study on the duration of load effects in a glued shear plate dowel joint was conducted. The joint design features a single large diameter dowel for load transfers between members, via external steel plates, which are bonded to the timber with a low stiffness bond line. Due to the low bond line stiffness, the timber element is subjected to a close to uniform shear stress distributio

1. Hepatectomized rats were injected intravenously with doubly labelled ([14C]linoleic acid and [3H]palmitic acid) thoracic duct lymphs from rats fed cream, triolein or corn oil. The disappearance of the radioactive fatty acids of different molecular triacylglycerol species and of phospholipids from plasma was studied.2. 73–93% of the injected triacylglycerols had been cleared from plasma within 1

Abstract Adoption of Chinese children with cleft lip and palate (CLP) has become increasingly more common in Sweden. The aim of this study was to examine parents' experience when adopting a child with CLP. Since 2008, 34 adopted children with CLP have been treated in our department. A questionnaire was sent to 33 of the families and 30 of them answered (91%). The parents had queued from 1 month to

BACKGROUND: Contact allergy to textile dyes is not uncommon. The allergy is detected by patch testing patients with commercial patch test preparations. OBJECTIVE: To investigate 8 disperse dyes (DDs) used for patch testing in the departments in Malmö and in Leuven and to compare them with test preparations used at various dermatology departments. Materials/Methods: The investigated DDs were Disper

A technique to estimate fungal growth rates in field samples was tested in soil. The technique is based on the addition of C-14-acetate to a soil slurry and the subsequent uptake and incorporation of the labelled acetate into the fungus specific substance ergosterol by the fungi. The addition of fungal inhibitors decreased acetate incorporation rates, while bacterial inhibitors did not. Fungus-fre

Aim: This study evaluates if accelerometer measured physical activity is related to higher composite risk factor scores for cardiovascular disease (CVD) in children. Methods: Cross-sectional study that included 223 children aged 7.9-11.1 years (boys n=123, girls n=100). Daily physical activity was assessed by accelerometers for four days. Body fat was quantified by dual x-ray absorptiometry. Maxim

ABSTRACT: BACKGROUND: Long term endurance training is known to increase peak oxygen uptake () and induce morphological changes of the heart such as increased left ventricular mass (LVM). However, the relationship between and the total heart volume (THV), considering both the left and right ventricular dimensions in both males and females, is not completely described. Therefore, the aim of this stu

A biological bank has been developed to extend the biochemical and molecular research base for a prospective study on diet and cancer in the city of Malmo, Sweden. The study entered individuals 45-69 years of age, of which 30,382 individuals (45%) participated. Each individual entering the bank has stored samples of viable mononuclear leukocytes (MNLs; -140°C) and granulocytes (GRANs; -80°C) or bu

Background and Aims: Meckel's diverticulum (MD) may remain silent or be associated with adverse events such as GI bleeding. The main aim of this study was to evaluate indicative small-bowel capsule endoscopy (SBCE) findings, and the secondary aim was to describe clinical presentation in patients with MD. Methods: This retrospective European multicenter study included patients with MD undergoing SB

Non-myelinated C-fibre responses during sympathetic trunk stimulation were studied in rabbit common peroneal nerve 2 weeks after the nerve had been subjected to compression at 400 mmHg for 30 min. Our previous studies have demonstrated that during sympathetic trunk stimulation the compound action potential of uninjured somatic C-fibres is characterized by a reduced amplitude and an increased laten

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

Objectives: To identify ultrasound features of papillations or of the cyst wall that can discriminate between benign and malignant unilocular-solid cysts with papillations but no other solid components. Methods: From the International Ovarian Tumor Analysis (IOTA) database derived from seven ultrasound centers, we identified patients with an adnexal lesion described at ultrasonography as unilocula

Antennal lobe neurones were investigated in the pyralid moth Ostrinia nubilalis using intracellular recording and staining techniques. Response characteristics of antennal lobe neurones from males in the so-called E and Z strains, in F1 hybrids and in parental backcrosses were studied. The antennal lobe of a male O. nubilalis comprises approximately 30 ordinary glomeruli and three enlarged glomeru