We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11. and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using w

Abstract in German Die Röntgenuntersuchung des pharyngo-oesophagealen Segments bei Patienten mit Dysphagie beruht auf der Auswertung von Morphologie und Funktion. Dazu sind video- oder kinematographische Techniken notwendig. Das Zurückhalten von Kontrastmittel oberhalb des cricopharyngealen Muskels kann durch ein kleines Pseudo- oder ein echtes Divertikel verursacht werden. Beide Phänomene werden Radiology of the pharyngoesophageal segment in patients with dysphagia relies on evaluation of both morphology and function. Video- or cineradiographic techniques are necessary. Retention of contrast material above the cricopharyngeal muscle can be due to small pseudodiverticula or true diverticula. Both phenomena are due to dysfunction in the pharyngoesophageal segment. To develop into a true div

Patients with systemic lupus erythematosus (SLE) have an increased risk of thrombosis. Platelet-induced extracellular phosphorylation of plasma proteins suggests that this is due to persistent activation of the platelets. We examined 30 SLE patients (15 with thrombotic disease), 18 non-SLE patients with deep vein thrombosis (DVT) and 50 healthy controls by analysing beta-thromboglobulin, activated

BACKGROUND: Previous studies have shown that the serum level of sialic acid is associated positively with mortality from coronary disease and stroke. In this study its relation with carotid atherosclerosis was evaluated. METHODS: From the Atherosclerosis Risk in Communities (ARIC) Study, 323 cases with carotid intima-media wall thickness above the 90th percentile (measured with B-mode ultrasound)

Clinical applications of blood oxygen level-dependent (BOLD) functional magnetic resonance imaging (fMRI) depend heavily on robust paradigms, imaging methods and analysis procedures. In this work, as a means to optimize and perform quality assurance of the entire imaging and analysis chain, a phantom that provides a well known and reproducible signal change similar to a block type fMRI experiment

3T3-L1 fibroblasts were induced to differentiate to 3T3-L1 adipocytes by dexamethasone, isobutyl-methylxanthine, and insulin. To study how differentiation affects extracellular matrix production, the accumulation of proteoglycans was studied by labeling the 3T3-L1 cells with [35S]sulphate for 24 h. The labeled proteoglycans were isolated from the medium and cell layer extracts by anion-exchange ch

Polymer adsorption of uncharged homopolymers onto planar surfaces has been investigated by employing a coarse-grained bcad-spring polymer model using simulation techniques. Polymer solutions of two different densities and polymers of two different Contour lengths have been examined. The dynamics of the adsorption process appearing in systems composed of a polymer Solution placed near attractive. b

Many enzymes of the bacteriochlorophyll and chlorophyll biosynthesis pathways have been conserved throughout evolution, but the molecular mechanisms of the key steps remain unclear. The magnesium chelatase reaction is one of these steps, and it requires the proteins BchI, BchD, and BchH to catalyze the insertion of Mg2+ into protoporphyrin IX upon ATP hydrolysis. Structural analyses have shown tha

Surfactant molecules are amphipathic and posses complicated solution chemistry and self-assembly properties. In addition to being of enormous practical significance, the physical characterization of surfactant systems presents a rich area of condensed matter physics. This article focuses on the application and interpretation of the commonly used NMR approaches for probing these systems. In particu

Fuel-cycle emissions of carbon dioxide (CO2) carbon oxide (CO), nitrogen oxides (NOx), sulphur dioxide (SO2), hydrocarbons (HC), methane (CH4), and particles are analysed from a life-cycle perspective for different biogas systems based oil six different raw materials. The gas is produced in large- or farm-scale biogas plants, and is used in boilers for heat production, in turbines for co-generatio

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the

Three studies investigated decision makers' memory representations of choice alternatives in most important real-life decisions. In Study 1, each participant recalled the most important decision that she or he had ever made and rated to what degree a number of characteristics could describe the decisions. In Study 2, the participants were asked to think about an important decision that they had ma

The development of fungal biomass and increase of amounts of N was studied in decomposing pine needle litter for about 3 yr. After a relatively rapid increase of the amount of mycelium the fungal biomass became rather constant after about 2 yr. The absolute amount of N in the needles increased between the 4th and the 16th months and this increase was correlated to the increase of fungal biomass in

The aim of this work was to characterize the effect of experimental diabetes on neurotransmission in rat vagina. Female Sprague-Dawley rats were divided into two groups: non-diabetic controls (NDM, n=38) and diabetics (DM, n=38). DM was produced by intraperitoneal injection of streptozotocin. Eight weeks later the animals were killed, the distal part of the vagina was removed, and smooth muscle st

Neuropathic pain is a common consequence of damage to the nervous system. We here report a genetic analysis of development of neuropathic pain-like behaviors after unilateral photochemically-induced ischemic sciatic nerve injury in a panel of inbred rat strains known to display different susceptibility to autoimmune neuroinflammation. Pain behavior was initially characterized in Dark-Agouti (DA; R

Objective: To develop a short measure of physical function for knee osteoarthritis (OA) using multi-national data from. individuals with varying degrees of severity of knee OA. Methods: Rasch analysis, based on the partial credit model, was conducted on Knee injury and Osteoarthritis Outcome Score and Western Ontario McMaster Universities' Osteoarthritis Index data from individuals with knee OA, r

Birth characteristics and growth pattern in 76 children with congenital cytomegalovirus (CMV) infection were compared to Swedish reference data. Infection classification was based on maternal sera during pregnancy. In 31 children the infection was primary and 31 children had reactivated (recurrent or secondary) congenital CMV infection. Infection type could not be determined in 14 children. Transi

In a prospective study comprising 310 consecutive patients with carcinoma of the cervix, FIGO stages I-IV, the prognostic significance of clinical and flow cytometric variable was evaluated in a univariate and multivariate analysis. The parameters studied included stage according to FIGO, age, histopathologic grade according to Ackerman and MGS scores, DNA ploidy, S-phase fraction as well as treat