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Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from
The relationships and the zoogeography of the three extant pinniped families, Otariidae (sea lions and fur seals), Odobenidae (one extant species, the walrus), and Phocidae (true seals), have been contentious. Here, we address these topics in a molecular study that includes all extant species of true seals and sea lions, four fur seals and the walrus. Contrary to prevailing morphological views the
Transfer RNAs (tRNAs) are essential for encoding the transcribed genetic information from DNA into proteins. Variations in the human tRNAs are involved in diverse clinical phenotypes. Interestingly, all pathogenic variations in tRNAs are located in mitochondrial tRNAs (mt-tRNAs). Therefore, it is crucial to identify pathogenic variations in mt-tRNAs for disease diagnosis and proper treatment. We c
The Variation Ontology (VariO) is used for describing and annotating types, effects, consequences and mechanisms of variations. To facilitate easy and consistent annotations, the online application VariOtator was developed. For variation type annotations VariOtator is fully automated, accepting variant descriptions in Human Genome Variation Society (HGVS) format, and generating VariO terms, either
Accurate diagnosis, characterization, and quantification of myocardial infarction (MI) is essential to assess the impact of therapy and to aid in predicting prognosis of patients with ischemic heart disease. Delayed contrast-enhanced magnetic resonance (DE-MR) imaging has the potential of being the gold standard for quantification of MI. It has also been useful in correlating electrocardiography a
Background We present 2DDB, a bioinformatics solution for storage, integration and analysis of quantitative proteomics data. As the data complexity and the rate with which it is produced increases in the proteomics field, the need for flexible analysis software increases. Results 2DDB is based on a core data model describing fundamentals such as experiment description and identified proteins. The
In order to achieve optimal diagnostic performance in breast tomosynthesis (BT) imaging, the parameters of the imaging chain should be evaluated. For the purpose of such evaluations, a simulation procedure based on the Monte Carlo code system Penelope and the geometry of a Siemens BT system has been developed to generate BT projection images. In this work, the simulation procedure is validated by
PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This phenotype was less severe than that of Pdgfra(-/-) embryos. Pdgfc(-/-) Pdgfa(-/-
We prove uniqueness for steady symmetric water waves with affine vorticity. The result holds with or without surface tension and gravity.
Background: There is increasing interest in nonmorbid treatments for low- and intermediate-risk prostate cancer with fewer side effects than surgery or radiotherapy. Objective: To investigate the tolerability, safety, and antitumor effects of the intraprostatic NanoZolid depot formulation Liproca Depot (LIDDS AB, Uppsala, Sweden) with antiandrogen 2-hydroxyflutamide (2-HOF) in men with low- or int
School refusal (SR) can have several negative consequences, but effective treatments are available. When chronic, school absence requires comprehensive treatment. This study evaluates an intervention for SR based on a Cognitive Behavioral Therapy (CBT) model, Hemmasittarprogrammet (HSP). Attendance, anxiety, depression, quality of life, and emotional and behavioral symptoms were measured at pre-tr
A 9-bit 1-MS/s successive-approximation (SAR) analog-to-digital converter (ADC) for ultra low power radio applications using 130 nm CMOS is presented. The ADC achieves a power consumption of 7/μW according to simulation results. This ultra low power is realized by employing a maximally simplified ADC architecture that consists of a dynamic latch comparator, a charge redistribution digital-to-analo
Objectives To determine whether videos taken by parents of their infants' spontaneous movements were in accordance with required standards in the In-Motion-App, and whether the videos could be remotely scored by a trained General Movement Assessment (GMA) observer. Additionally, to assess the feasibility of using home-based video recordings for automated tracking of spontaneous movements, and to e
We analyze a large system of globally coupled phase oscillators whose natural frequencies are bimodally distributed. The dynamics of this system has been the subject of long-standing interest. In 1984 Kuramoto proposed several conjectures about its behavior; ten years later, Crawford obtained the first analytical results by means of a local center manifold calculation. Nevertheless, many questions
Innovation management (IM) is a multidisciplinary field which has been growing for the past few decades. However, the management of innovation is often considered equivalent to technology management or the management of research and development. By focusing on a set of small-and medium-sized enterprises operating in a medium-high-tech industry, the paper intends to determine the characteristics of
