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Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage

OBJECTIVES: To identify germ line variants contributing to the development of monoclonal gammopathy of undetermined significance (MGUS), an asymptomatic premalignant precursor for multiple myeloma (MM).METHODS: We conducted the first genomewide association study (GWAS) on MGUS on 243 German cases with a replication on 294 Czech cases. Identified loci were further analyzed in 1508 German MM patient

To obtain a global overview of how mitochondria respond to stress, we aimed to define the plant mitochondrial stress response (MSR). By combining a set of 1196 Arabidopsis thaliana genes that putatively encode mitochondrial proteins with 16 microarray experiments on stress-related conditions, 45 nuclear encoded genes were defined as widely stress-responsive. Using green fluorescent protein (GFP) f

The present study determined mutations of phosphatase and tensin homolog (PTEN) gene in patients suffering from high-grade gliomas (WHO grades III and IV) and further investigated the mutations in correlation to patients' histopathological classification and short-term survival. Total RNA and genomic DNA were extracted from tumor tissues. Full-length PTEN cDNA sequences were amplified by polymeras

PURPOSE. Structures derived from periocular mesenchyme arise by complex interactions between neural crest and mesoderm. Defects in development or function of structures derived from periocular mesenchyme result in debilitating vision loss, including glaucoma. The determination of long-term fates for neural crest and mesoderm in mammals has been inhibited by the lack of suitable marking systems. In

Investigations of host preferences in haematophagous insects, including Culicoides biting midges (Diptera: Ceratopogonidae), are critical in order to assess transmission routes of vector-borne diseases. In this study, we collected and morphologically identified 164 blood-engorged Culicoides females caught in both light traps and permanent 12-m high suction traps during 2008-2010 in Sweden. Molecul

Areal bone mineral density (aBMD) is the most common estimate of bone mass, incorporated in the World Health Organization definition of osteoporosis. However, aBMD depends on not only the amount of mineral but also the bone size. The estimated postmenopausal decline in aBMD could because of this be influenced by changes in bone size.We measured bone mineral content (BMC; mg), aBMD (mg/cm(2)), and

Summary. Patients with moderate and severe haemophilia are evaluated on a regular basis at their haemophilia centres but patients with mild haemophilia are seen less often because of fewer problems related to their disease. The needs of patients with milder forms of haemophilia, however, are often underestimated, both by the patient and staff at healthcare facilities. This study evaluated the know

Abstract Aims Myelinated nerve fibre pathology has been demonstrated at wrist level in diabetic patients. We examined if quantification of intra-epidermal nerve fibre density (IENFD) in hairy and glabrous skin at wrist level could detect signs of subclinical small nerve fibre neuropathy. Methods In 35 diabetic patients who were age and gender matched with 31 non-diabetic patients, punch biopsies w

Statins exert a number of anti-inflammatory and immunomodulatory effects in vitro. However, the immunomodulatory effects in vivo are less clarified. In the present study, we investigated whether simvastatin treatment changed the levels of autoantibodies against specific oxidized LDL (oxLDL) antigens as well as their association with leukocyte activation markers. Eighty volunteers with mild-to-mode

Aims: Recently, drug-eluting balloons have received a guideline class IIa recommendation in the treatment of in-stent restenosis after bare metal stent implantation. It is not known if different balloons perform equally. Using a large real world registry, restenosis frequency was reported for two drug-eluting balloons. Methods and results: From April 2009 until September 2011, 1,129 patients w

Osteoporosis is common in the elderly, and it is associated with lifetime exposure to endogenous hormones and vitamin D intake, both of which are associated with cancer development. The association of osteoporosis with subsequent cancer has not been established, and hence we examined here the overall and site-specific cancer risks among Swedish individuals after hospitalization for osteoporosis. P

The polyamines are essential for a variety of functions in the mammalian cell. Although their specific effects have not been fully elucidated, it is clear that the cellular polyamines have to be kept within certain levels for normal cell function. Polyamine homoeostasis in mammalian cells is achieved by a complex network of regulatory mechanisms affecting synthesis and degradation, as well as memb

Pelvic fractures may occur together with hip fractures as a result of low energy trauma. It is unclear whether they do require special attention. There are conflicting results in the literature about the prevalence of both concomitant hip and pelvic fractures as well as exclusive pelvic fractures. It has been reported that hip fractures and obturator ring fractures are mutually exclusive. To retro

The objective of this study is to investigate whether vestibular rehabilitation can improve balance, reduce self-perceived handicap because of dizziness and, if possible, reduce falls among dizzy patients in primary healthcare. The study also finds out which of the balance measures and measure of self-perceived handicap, if any, predicted the risk of falls. The design of this study is an intervent

BACKGROUND: Although inflammation has been associated with different cardiovascular diseases, the relationships with future heart failure (HF) are unclear. This population-based study explored whether elevated plasma levels of inflammatory proteins are associated with incidence of HF. METHODS: Five inflammation-sensitive plasma proteins (ISPs, fibrinogen, ceruloplasmin, haptoglobin, orosomucoid, a

In preterm infants, low levels of Insulin like growth factor 1 (IGF-I) have been associated with impaired growth and retinopathy of prematurity. Our objective was to study safety and pharmacokinetics of intravenously administered rhIGF-I with its binding protein 3 (rhIGFBP-3) to preterm infants. At 3 days chronological age, an intravenous 3 hours infusion of rhIGF-I/rhIGFBP-3 was administered foll