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Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutatio

Background: The aim of the study was to describe the technique of two-trocar laparoscopic appendectomy and compare the outcome between two- and three-trocar techniques in children. Methods: All children who underwent laparoscopic surgery for suspected appendicitis from 2006 to 2014 in a center for pediatric surgery were included in the study. Converted surgeries and patients with appendiceal absce

Most complex diseases have well-established genetic and non-genetic risk factors. In some instances, these risk factors are likely to interact, whereby their joint effects convey a level of risk that is either significantly more or less than the sum of these risks. Characterizing these gene-environment interactions may help elucidate the biology of complex diseases, as well as to guide strategies

Purpose: The purpose of this document is threefold: (a) review the uses of the terms “vocal fatigue,” “vocal effort,” “vocal load,” and “vocal loading” (as found in the literature) in order to track the occurrence and the related evolution of research; (b) present a “linguistically modeled” definition of the same from the review of literature on the terms; and (c) propose conceptualized definition

One of the toughest challenges for the international community is to justify military interventions in sovereign states. Echoing in terms of post-colonialism, underlying interest and power domination, military interventions must be argued for and legitimized in order to gain support from both public and institutional opinion. This is even more essential in our modern era with its rapid and unimped

Tapering is a mode of operation of insertion devices that allows the users to perform scanning in a range of photon energies. NanoMAX, BioMAX and BALDER are all beamlines of the 3 GeV MAX IV storage ring and will provide this special mode of operation for their users. In this thesis, the spectra of NanoMAX and BioMAX while operating with tapering were studied and feed forward tables that cancel ou

Recent experiments have suggested that high energy charge carriers can have a significant effect on the operation of group III nitride (III-N) light-emitting diodes (LEDs), possibly playing an important role in the efficiency droop. As hot carriers are not accounted for by device simulation tools based on drift-diffusion (DD) and quasiequilibrium conditions, more advanced tools are needed. Here, f

In this report we describe the first two US patients with congenital disorder of glycosylation type Ig (CDG-Ig). Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tested positive for deficient glycosylation of transferrin. Labeling of the patients' lipid-linked oligosaccharides suggested mutations in the hALG12 gene, encoding

This 1 sonata uses simple generative principles, to develop networks of relatively high complexity in which intuition actively participates to produce an output with a certain degree of activity and acoustic nonlinearity.Albert-László Barabási, from the introduction to his book titled Linked: the new science of networks, “Just as diverse humans share skeletons that are almost indistinguishable,

The need for secure and integrity-preserved data sharing has become increasingly important in the emerging era of changed demands on healthcare and increased awareness of the potential of data. In this research plan, we describe our path to explore the optimal use of integrity preservation in health-related data contexts. Data sharing in these settings is poised to increase health, improve healthc

Microptila orienthula, sp. n. from Japan is described and illustrated based on adults of both sexes. The new species represents the first finding of Microptila in the Eastern Palaearctic Region, and it appears to be more closely related to Oriental species of Microptila than to the two Western Palaearctic species. The finding of a new species with affinities to the Oriental species as far northeas

This essay analyse the relationships between scientific paradigms and different logics of power in the field of psychiatry, primarily in the fields of attention disorders of children and schizophrenia. In these two fields of psychiatric research and treatment, there exist two scientific paradigms, a biological/neuropsychiatric and a socialpsychological, working from different standpoints regarding

This article describes the systematic design of a control structure for a biological wastewater treatment process as given by the test-bed Benchmark Simulation Model No. 1 (BSM1) and Activated Sludge Model No. 1 (ASM1). The objective of this work was to formalize and implement a systematic and yet simple procedure for the selection of control structures in wastewater treatment plants (WWTPs) and t

In this paper, I track the arrival of the sugar beet in Scandinavia and explore the technical changes, ecological implications and new social arrangements that followed in its wake. Based on ethnographic records and other historical material dealing with agricultural practices, I argue that an ethnological view that takes the agrarian landscape and the organisation of social life together as one a

A six-cylinder truck-size engine has been converted for Homogeneous Charge Compression Ignition (HCCI) operation. This work demonstrates that it is possible to run a multi-cylinder engine under HCCI operation. The ultra-low NOX characteristic of HCCI is also demonstrated. The sensitivity of combustion timing with respect to operating parameters is investigated, and a closed-loop control system is