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Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11,

One of the still open issues for the development of superconducting insertion devices is the understanding of the heat load induced by the beam passage. With the aim of measuring the beam heat load to a cold bore and in order to gain a deeper understanding in the beam heat load mechanisms, a cold vacuum chamber for diagnostics is under construction. We plan to have access with the same set-up to a

Background: Novel peritoneal dialysis solutions are characterized by a minimal content of glucose degradation products and a neutral pH. Many studies have shown the biocompatibility of neutral lactate-buffered solutions; however, until now, the effect of purely bicarbonate-buffered solutions has not been intensively studied in vivo. Methods: This study was an open label, prospective, crossover mul

We utilized femtosecond time-resolved resonant inelastic X-ray scattering and ab initio theory to study the transient electronic structure and the photoinduced molecular dynamics of a model metal carbonyl photocatalyst Fe(CO)5 in ethanol solution. We propose mechanistic explanation for the parallel ultrafast intra-molecular spin crossover and ligation of the Fe(CO)4 which are observed following a

Primary astrocytomas of grade 3 or 4 according to the classification system of the World Health Organization (high-grade astrocytomas or HGAs) are preponderant among adults and are almost invariably fatal despite the use of multimodal therapy. Here we show that the juvenile brain has an endogenous defense mechanism against HGAs. Neural precursor cells (NPCs) migrate to HGAs, reduce glioma expansio

For a level scheme investigation of Gd-142 an experiment with the gamma -spectrometer EUROBALLIII has been carried out and lifetimes have been measured with EUROBALL IV using the Doppler-shift attenuation method. The high-spin states have been populated in these experiments by means of the(99)Ru(Ti-48, 2p3n) reaction at a beam energy of 240MeV and the Sn-114(S-32, 2p2n) reaction at 160MeV, respect

Background Progression of joint destruction in rheumatoid arthritis (RA) is partly heritable; knowledge of genetic factors may increase our understanding of the mechanisms underlying joint destruction. The activity of the Wnt/beta-catenin pathway influences osteoblast differentiation. Dickkopf-1 (Dkk-1) and sclerostin (Sost) are negative regulators and lipoprotein receptor-related protein-5 (LRP-5

Popular Abstract in Swedish I följande arbete har ett dynamiskt modellbibliotek av komponenter utvecklats för processlinjer. Analysen inriktades mot karakteristiska aspekter för processlinjer för flytande livsmedel, och nya modeller utvecklades för byte av fluidum, dispersion, blandfaser och första ordningens kemiska reaktioner i rör och värmeväxlare. Modellernas beräkningseffektivitet och noggranIn the present work a dynamic model library of components for process lines was developed. The analysis addressed characteristic aspects of liquid food process lines, and new models were developed for fluid transitions, dispersion, mixing zones and first-order chemical reactions in pipes and heat exchangers. The computational efficiency and accuracy of the models were analysed. It was demonstrated

Background Lower-respiratory-tract infection is one of the most common acute illnesses managed in primary care. Few placebo-controlled studies of antibiotics have been done, and overall effectiveness (particularly in subgroups such as older people) is debated. We aimed to compare the benefits and harms of amoxicillin for acute lower-respiratory-tract infection with those of placebo both overall an

Purpose: Cancers of the digestive system constitute a major risk for childhood cancer survivors treated with radiotherapy once they reach adulthood. The aim of this study was to determine therapy-related risk factors for the development of a second malignancy in the digestive organs (SMDO) after a childhood cancer. Methods and Materials: Among 4,568 2-year survivors of a childhood solid cancer dia

Objective. Costimulatory receptor CD226 plays an important role in T cell activation, differentiation, and cytotoxicity. This study was undertaken to investigate the genetic association of CD226 with susceptibility to systemic lupus erythematosus (SLE) and to assess the functional implications of this association. Methods. Twelve tag single-nucleotide polymorphisms (SNPs) in CD226 were typed in 1,

Hemolytic uremic syndrome (HUS) includes a heterogeneous group of hemolytic disorders. Among the identified causes of HUS are infections, particularly infections with Shiga toxin-producing ESCHERICHIA COLI (STEC), complement disorders, and disorders interfering with the degradation of von Willebrand factor (VWF). Other causes for atypical HUS include the cobalamin metabolism; pregnancy/hemolysis,

We exhibit supercritical trade-off for monotone circuits, showing that there are functions computable by small circuits for which any small circuit must have depth superlinear or even super-polynomial in the number of variables, far exceeding the linear worst-case upper bound. We obtain similar trade-offs in proof complexity, where we establish the first size-depth trade-offs for cutting planes an

Background: Perioperative myocardial injury (PMI) is associated with increased short-term major adverse cardio- and cerebrovascular events (MACCE) and mortality. We evaluated how different phenotypes of PMI based on timing of injury impact long-term MACCE and mortality among patients undergoing major noncardiac surgery (NCS). Methods: A prospective, observational study was carried out in 1290 pati

Purpose: Although epilepsy has been reported in survivors of childhood cancer outside the central nervous system (CNS), little evidence exists on risk factors for this late complication. Our study aimed to identify risk factors of late-onset epilepsy. Methods: A case-cohort study was conducted within 5-year survivors of non-CNS childhood cancer from the Adult Life after Childhood Cancer in Scandin

Electron emission, in resonance with soft X-ray absorption, appears to provide a measure of the dispersion of the highest occupied and the lowest, core-hole distorted, unoccupied pi-bands in poly(p-phenylenevinylene).

Popular Abstract in Swedish Doften av blommor och mat förnimmer vi med näsan, vilken är en finurlig gassensor som även känner av mindre trevliga lukter från exempelvis rök och avgaser. Våra ögon ser färger och former hos föremål genom att detektera ljus som har reflekterats, brutits, spridits eller delvis absorberats i vår omgivning. Denna avhandling beskriver i någon mening en sorts konstgjorda Laser spectroscopic techniques for gas analysis under various influences of light scattering are explored in a wide spectral range from the ultraviolet to the infrared. The techniques rely on spectrally narrow-band light sources that are used in differential optical absorption measurements. A DIfferential Absorption Light detection and ranging (DIAL)application for the monitoring of atomic gaseou

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was estab

The aim of this paper is to present the software development techniques used to build the EIS Patterns development framework, which is a testbed for a series of techniques that aim at giving more flexibility to EIS in general. Some of these techniques are customizations or extensions of practices created by the agile software development movement, while others represent new proposals. This paper a