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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

The associations of body mass index (BMI) and other anthropometric measurements with lung cancer were examined in 348,108 participants in the European Investigation Into Cancer and Nutrition (EPIC) between 1992 and 2010. The study population included 2,400 case patients with incident lung cancer, and the average length of follow-up was 11 years. Hazard ratios were calculated using Cox proportional

BACKGROUND: High reproducibility of test measurements is often considered an indication of high reliability of test results. The aim of the current study was to analyse the role of the traditional perimetric reliability indices, False Negative and False Positive responses, and Fixation Losses, as indicators of test reliability in comparison with threshold reproducibility in patients with suspect o

Allogeneic hematopoietic stem cell transplantation (allo-SCT) is a potentially curative treatment option for eligible patients with chronic lymphocytic leukemia (CLL). However, it is known that cure of CLL is only possible if a graft-versus-leukemia effect is present. Between 1994 and 2007, 48 adults underwent allo-SCT for poor-risk CLL in Sweden. Of these, ten (21%) patients aged 24-53 years (med

The structure, biosynthesis, and metabolism of proteoglycans in the HL-60 human promyelocytes were studied by metabolic labeling in culture with [35S]sulfate, [3H]glucosamine, [3H]serine, and [3H]leucine. These cells synthesize a single predominant species of intracellular proteoglycan with an approximate molecular weight of 100,000. The cells contain about 1 μg of proteoglycan/million cells. The

All players in Swedish soccer teams are required to have insurance in the same company. from the archives of the insurance company, all 3,735 injuries reported in 1986 in 188,152 Swedish soccer players were reviewed. of these, 937 were knee injuries. All players were asked by mail to fill in a questionnaire and 83 percent replied. the patient records from the different hospitals were requested. th

OBJECTIVE: To determine the prevalence of orthostatic hypotension (OH), low blood pressure and dizziness, falls and fractures in patients with organic dementia. DESIGN: We prospectively studied 151 patients, assessing the prevalence of OH, hypertension, heart disorders, diabetes mellitus and the use of medication possibly associated with OH. SETTING: The patients were admitted to our psychogeriatr

Hemicelluloses, which are abundant in nature and have potential use in a wide variety of applications, may make an important contribution in helping relieve society of its dependence on petrochemicals. However, cost-efficient methods for the isolation of hemicelluloses are required. This article presents an economic evaluation of a full-scale process to isolate hemicelluloses from process water fr

Context: When using the Case Method in teaching situations, problem-solving is emphasized and taught, in order to acquire the skills and later be able to apply them in new situations. The basis of the learning process is the students’ own activity in the situation and is built on critical appraisal and discussion. Objectives: To explain what the Case Method is, what it is not and to describe when

Objectives: In most clinics, follow-up after inguinal hernia surgery is not a routine procedure and complications may pass unnoticed, thus impairing quality assessment. The aim of this study was to investigate the frequency, spectrum, and risk factors of short-term adverse events after groin hernia repair. Methods: All patients aged 15 years or older with a primary unilateral inguinal or femoral h

The present series comprises all families (n = 77) with haemophilia B in Sweden and may be considered to be representative for the purposes of a population-based study of mutational heterogeneity. The 77 families (38 severe, 10 moderate, 29 mild) had 51 different mutations in total. Thirteen families had total, partial or small deletions, two had mutations in the promoter, eight families had splic

The day-to-day variation in oxygen consumption ((V) over dot O-2) during ergometer cycling by 20 healthy adolescents, 10 females and 10 males, was measured using indirect calorimetry. The two sets of measurements were performed on two consecutive days. Great care was taken to minimize possible disturbing factors. Cycling started at 50 and 100 W for female and male adolescents, respectively. The lo

The rat brain-derived neurotrophic factor (BDNF) gene consists of four short 5'-exons linked to separate promoters and one 3'-exon encoding the mature BDNF protein. Using in situ hybridization we demonstrate here that kindling-induced seizures, cerebral ischaemia and insulin-induced hypoglycaemic coma increase BDNF mRNA levels through insult- and region-specific usage of three promoters within the

Here, we describe the preparation, structure, and properties of cryogel sponges, which represent a new type of macroporous biomaterial for tissue engineering. Cryogels were produced through freeze-thawing techniques, either from agarose alone or from agarose with grafted gelatin. The aim of this study was to evaluate agarose cryogel sponges as scaffolds for Culturing both isolated pancreatic islet

Background Pain at the site of intravenous injection of propofol is a common clinical finding. This double-blind, randomized cross-over study was designed to evaluate whether venous occlusion applied during injection of a low dose of propofol reduces the intensity of pain at the site of injection compared with no occlusion. Methods Bilateral 0.5-ml injections of an emulsion containing 10 mg/ml of