OBJECTIVE: Infantile malignant osteopetrosis is a fatal disease caused by lack of functional osteoclasts. In most of patients, TCIRG1, encoding a subunit of a proton pump essential for bone resorption, is mutated. Osteopetrosis leads to bone marrow failure and blindness due to optic nerve compression. Oc/oc mice have a deletion in Tcirg1 and die around 3 to 4 weeks, but can be rescued by neonatal

OBJECTIVE: To evaluate antinuclear antibody (ANA) tests in established cases of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) by indirect immunofluorescence microscopy (F-ANA) and enzyme-immunoassays detecting antinucleosomal antibodies (ANSA-EIA). METHODS: Sera from 50 patients with SLE and 65 patients with RA were analyzed regarding abnormal concentrations of F-ANA (serum dilu

BACKGROUND: The changes of cancer incidence upon immigration can be used as an estimator of environmental influence on cancer risk. We studied site-specific liver and biliary cancers in first-generation immigrants to Sweden with an aim to search for aetiological clues and to find evidence for indigenous incidence rates. MATERIAL AND METHODS: We used the nation-wide Swedish Family-Cancer Database t

Purpose: To evaluate: (i) the relationship between intraocular pressure (IOP) reduction attained with a fixed treatment protocol and the untreated IOP level; (ii) the consistency of IOP reduction over time; and (iii) whether there is a threshold pretreatment IOP level below which IOP reduction might be less effective. Results are based on 128 patients with glaucoma with field defects, who were ran

We have recently identified 1110032E23Rik as a down-regulated target gene in Fgf receptor-signalling-deficient mouse embryoid bodies. Here, we present the expression pattern of this novel gene, designated Ened (Expressed in Nerve and Epithelium during Development), in mouse and Xenopus laevis embryos. Murine Ened transcripts were first seen at E9.5 in the heart and the gastrointestinal tract. At l

Several exciting approaches for restorative therapy in Parkinson's disease have emerged over the past two decades. This review initially describes experimental and clinical data regarding growth factor administration. We focus on glial cell line-derived neurotrophic factor (GDNF), particularly its role in neuroprotection and in regeneration in Parkinson's disease. Thereafter, we discuss the challe

The effectiveness of both preoperative autologous donation (PAD) and intraoperative autotransfusion (IAT) with an autotransfusion device has recently been questioned. Preoperative apheresis, with separation of concentrated platelet rich-plasma (c-PRP) and erythrocyte concentrate (ERC), represents an aggressive use of the autotransfusion device. Can such a procedure replace PAD in total hip replace

Standing on a foam surface is believed to exaggerate balance deficits by decreasing the reliability of somatosensory information from cutaneous mechanoreceptors on the plantar soles (i.e. base of feet) and by altering the effectiveness of ankle torque. The aim was to further document the nature of foam posturography testing by comparing between standing on foam and standing with decreased Rapidly

The population of elderly patients with von Willebrand Disease (VWD) is growing due to the improvement of medical care. The increase of co-morbidities and their treatment as well as standard preventive measures like anti-platelet or anticoagulation therapy constitute a challenge in the overall treatment of patients with coagulation disorders. Due to the lack of literature on older VWD patients, we

The recent introduction of entry inhibitors in the clinic as components of antiretroviral treatment has heightened the interest in coreceptor use of human immunodeficiency virus type 1 (HIV-1). Viruses using CCR5 as coreceptor (R5 viruses) are generally present over the entire course of infection whereas viruses using the CXCR4 coreceptor (R5X4/X4 viruses) emerge in about 50% of infected individua

Cardiovascular disease remains as the leading cause of death in the developed world. However, there is limited knowledge about how cardiovascular risk factors actually cause vascular disease. Traditional cardiovascular risk factors include increased circulating levels of low-density lipoproteins, cigarette smoking and hypertension (both strongly related to arterial wall injury), inflammation and a

Multiple sequence alignment (MSA) is an essential prerequisite for many sequence analysis methods and valuable tool itself for describing relationships between protein sequences. Since the success of the sequence analysis is highly dependent on the reliability of alignments, measures for assessing the quality of alignments are highly requisite.

Abstract in Undetermined Bone is dynamic tissue undergoing changes in its composition, structure and functional properties during growth. It has been proposed that especially changes in the collagen phase of bone are responsible for making the bone more fragile, and potentially less viscoelastic with age. Hence, robust methods to measure viscoelasticitiy are needed. This study aimed to characteriz

Abstract While outcome studies in pediatric obesity have received considerable attention, research on different components of effective interventions remains limited. Little is known which psychological method (i.e., behavior modification, cognitive behavior therapy and family therapy) is most useful or how the choice of program delivery (group/individual) influences the intervention outcomes. Gro