Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatal death to progressive symmetrical muscle weakness first appearing in adulthood. The disease is produced by degeneration of spinal motor neurons and can be described in three or more categories: SMA I with onset o

A heterogeneous distribution of radionuclides emitting low-energy electrons in the testicles may result in a significant difference between an absorbed dose to the radiosensitive spermatogonia and the mean absorbed dose to the whole testis. This study focused on absorbed dose distribution in patients at a finer scale than normally available in clinical dosimetry, which was accomplished by combinin

To distinguish between natural and anthropogenic forcing, the supposedly ongoing global warming needs to be put in a longer, geological perspective. When the last ca. 20 000 yr of climate development is reviewed, including the climatically dramatic period when the Last Ice Age ended, the Last Termination, it appears that the last centuries of globally rising temperatures should be regarded as an a

The role of nurses and technicians in the treatment of ST-elevation myocardial infarction (STEMI) by primary percutaneous coronary intervention (PPCI) is vital for the success of the multidisciplinary Heart Team. Several editorials have emphasised the importance of a holistic treatment which links each step of care to the next, a chain that is essential for quality and efficacy in the management o

The aim of this study is to identify loci associated with circulating levels of Interleukin 8 (IL8). We investigated the associations of 121,445 single nucleotide polymorphisms (SNPs) from the Illumina 200K CardioMetabochip with IL8 levels in 1077 controls from the Stockholm Heart Epidemiology Program (SHEEP) study, using linear regression under an additive model of inheritance. Five SNPs (rs12075

Neurodegenerative diseases have been linked to inflammation, but whether altered immunomodulation plays a causative role in neurodegeneration is not clear. We show that lack of cytokine interferon-β (IFN-β) signaling causes spontaneous neurodegeneration in the absence of neurodegenerative disease-causing mutant proteins. Mice lacking Ifnb function exhibited motor and cognitive learning impairments

We studied damage accrual and factors determining development and progression of damage in an international cohort of systemic lupus erythematosus (SLE) patients.

Many nematophagous fungi use morphological structures called traps to capture nematodes by adhesion or mechanically. To better understand the cellular functions of adhesive traps, the trap cell proteome of the fungus Monacrosporium haptotylum was characterized. The trap of M. haptotylum consists of a unicellular structure called knob that develops at the apex of a hyphae. Proteins extracted from k

Gastric cancer is the second most common cause of cancer-related death worldwide, and the incidence of esophageal adenocarcinoma is rising. While some progress has been made in treatment strategies, overall survival remains very poor for patients with adenocarcinoma in the upper gastrointestinal tract. Special AT-rich sequence binding protein 1 (SATB1) is a global genome organizer that has been de

A search for nonresonant new phenomena, originating from either contact interactions or large extra spatial dimensions, has been carried out using events with two isolated electrons or muons. These events, produced at the LHC in proton-proton collisions at root s = 7 TeV, were recorded by the ATLAS detector. The data sample, collected throughout 2011, corresponds to an integrated luminosity of 4.9

Transcatheter aortic valve implantation (TAVI) is a therapeutic option for high-risk patients with aortic stenosis. Procedural mortality remains high in comparison with conventional aortic valve replacement (AVR) because patients determined for TAVI are commonly denied conventional surgery. We aimed to evaluate access-related complications between the transfemoral (TF) and the transapical (TA) app

The η phase in the Au-Cd binary system has been synthesized, and the structure has been analyzed by single-crystal X-ray diffraction. The compound η-AuCd4 crystallizes in the hexagonal space group P63/m (No. 176). The unit cell contains ∼273 atoms. The compound AuCd4 represents a √3a × √3a × c superstructure of the AgMg4 type. The structure can be well described by icosahedral and trigonal-prismat

Introduction. To study whether the frequently reported association between depressive symptoms and the metabolic syndrome (MetS) and its individual components are secondary to the use of antidepressant medication and to established diabetes or cardiovascular diseases (CVD). Patients and methods. A population-based, random sample of 4,967 women and men aged 18-75 years. MetS was defined according t

BACKGROUND: Work ability and work ability assessments have become important both in health care and in relation to granting sick leave. There are different interpretations of work ability among the different professionals involved, and there is no consensus on how work ability should be assessed. Aim The aim was to analyse how a group of experienced and specially trained physiotherapists (PTs) in

The notion of the phoneme counts as a break-through of modern theoretical linguistics in the early twentieth century. It paved the way for descriptions of distinctive features at different levels in linguistics. Although it has since then had a turbulent existence across altering theoretical positions, it remains a powerful concept of a fundamental unit in spoken language. At the same time, its co

Study Design. A register cohort study.Objective. To evaluate outcome of surgery for lumbar spinal stenosis without concomitant degenerative spondylolisthesis according to predominance of pain and to analyze the role of spinal fusion in conjunction with decompression in patients with predominant back or leg pain.Summary of Background Data. Predominance of back pain is associated with inferior outco

Introduction: Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. Methods: In total, 126 breast tumor tissue specimens including 32 samples from patients carry

Health-related quality of life (HRQL) was evaluated in 94 patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT) after myeloablative (MAC, n = 18) or reduced intensity conditioning (RIC, n = 76). HRQL was assessed with the EORTC QLQ C-30 during the inpatient period as well as during the following 3 years, i.e. at baseline and 12 times thereafter. Functional status and globa

Background: The antiphospholipid syndrome (APS) is characterized by the persistent presence of auto-antibodies against β(2) -Glycoprotein I (β(2) -GPI). β(2) -GPI can exist in two conformations. In plasma it is a circular protein, whereas it adopts a fish-hook shape after binding to phospholipids. Only the latter conformation is recognized by patient antibodies. β(2) -GPI has been shown to interac

Haemophilia is an X-linked recessive genetic disease of haemostasis. Women carriers may present with a bleeding tendency similar to milder forms of the disease. Haemophilic newborns present risk factors and patterns of bleeding that are challenging. Identification of carriers and genetic counselling before conception is considered optimal to help decide on available conception options and during p