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Mitochondria are essential for early cardiac development and impaired regulation of mitochondrial function was implicated in congenital heart diseases. We described a newborn girl with hypertrophic cardiomyopathy and profound hearing loss. The mtDNA mutational analysis revealed the presence of known polymorphisms associated to cardiomyopathy and/or hearing loss, and 2 novel heteroplasmic mutations
Context. Young open clusters (ages of less than 200 Myr) have been observed to exhibit several peculiarities in their chemical compositions. These anomalies include a slightly sub-solar iron content, super-solar abundances of some atomic species (e.g. ionised chromium), and atypical enhancements of [Ba/Fe], with values up to ~0.7 dex. Regarding the behaviour of the other s-process elements like yt
The erection process of in situ cast concrete frameworks in multi-storey housing consists of multiple on site activities in which labour, equipment and materials are interacting in a complex system. Studies have shown that the current process involves a wide range of non-value adding activities, resulting in poor process efficiency. This paper presents a model developed for discrete-event simulati
In 1833-1874, Spain suffered 0.7 coups per year. By contrast, the Restoration (1874-1923) saw the eradication of successful coups. This can be partially attributed to the turno pacífico, which allowed the main political parties to alternate in office without dragging the military into politics. We suggest, however, that the reduction in coup risk was also associated with a conscious budget policy.
Degradation of extracellular matrix, is a prerequisite for processes like tumor invasion and angiogenesis. Numerous studies indicate that plasminogen activation, initiated by u-PA, is a key process in malignant tumor growth. The expression of u-PA as well as its receptor is increased in malignant ovarian tumors. Additionally, u-PA stimulates signal transduction leading to cell proliferation and mi
Inclusive and differential fiducial cross sections of Higgs boson production in proton-proton collisions are measured in the H → ZZ* → 4ℓ decay channel. The proton-proton collision data were produced at the Large Hadron Collider at a centre-of-mass energy of 13 TeV and recorded by the ATLAS detector in 2015 and 2016, corresponding to an integrated luminosity of 36.1 fb−1. The inclusive fiducial cr
On 25 March 2015, the Enlarged Board of Appeal of the European Patent Office (EBA) finally delivered its’ much awaited decisions on the consolidated referrals G2/12 (“Tomato II”) and G2/13 (“Broccoli II”). The EBA affirmed that products, namely plants or parts thereof, obtained by essentially biological processes are – unlike individual plant varieties – principally patentable under the European P
Background For consistent reporting and better comparison of data in research the revised Atlanta classification (RAC) proposes new computed tomography (CT) criteria to describe the morphology of acute pancreatitis (AP). The aim of this study was to analyse the interobserver agreement among radiologists in evaluating CT morphology by using the new RAC criteria in patients with AP. Methods Patients
Purpose: The 4-kallikrein panel, commercially available as the 4Kscore™, is a reflex test for prostate cancer early detection that has been extensively validated in multiple international cohorts. It has been suggested that use of such reflex tests be limited to those with prostate specific antigen less than 10 ng/ml and negative digital rectal examination. We aimed to determine the value of the p
DevOps as a new way of thinking for software development and operations has received much attention in the industry, while it has not been thoroughly investigated in academia yet. The objective of this study is to characterize DevOps by exploring its central components in terms of principles, practices and their relations to the principles, challenges of DevOps adoption, and benefits reported in t
Magmatism of the Povungnituk Group of the Cape Smith Belt, northern Superior craton, was formed in three stages: (i)early alkaline magmatism and associated carbonatites (undated), (ii) a main flood basalt sequence (Beauparlant Formation) (constrained between 2040 and 1991 Ma), and (iii) a late stage alkaline pulse (Cecilia Formation) (ca. 1959 Ma). We suggest that the main stage of magmatic activi
BACKGROUND: Chemotherapy-induced emesis is one of the most disturbing side effects in cancer therapy. Thus, antiemetic treatment is a mandatory adjunct in emetogenic chemotherapy.METHODS: Tropisetron (Navoban, Sandoz Pharma Ltd., Basel, Switzerland), a new 5-HT3 receptor antagonist, was compared in a randomized multicenter trial with a high-dose metoclopramide-dexamethasone cocktail for the preven
BACKGROUND: Chronic Obstructive Pulmonary Disease (COPD) is the most common severe chronic disease in primary care. It is typically diagnosed at a late stage, and it is also difficult to predict its trajectory and hence to tailor treatment and rehabilitation. The overall aim is to study determinants of exacerbations of COPD treated in primary care and to study, if the prognosis is related to patie
We compared the mental health of native and immigrant adolescents in Sweden from 1995 to 2011 and examined whether the municipality-level proportion of immigrant adolescents moderated the association between individual-level immigrant status and mental health. The sample (14,189 adolescents aged 15-16) was obtained from a repeated cross-sectional study conducted from 1995 to 2011. Adolescent self-
Lungultraljud har visat god precision och reproducerbarhet som diagnostiskt komplement till klinisk undersökning vid akut dyspné. Lungultraljud utförs bedside och är relativt lätt att lära sig, men kräver träning och strukturerat utförande för att inte resultera i felaktiga diagnoser.Lungultraljud baseras till största delen på tolkning av artefakter. Vid en normalt luftfylld lunga bildas horisonteUltrasound plays an important role in several medical fields. The heart was the first organ for which ultrasound gained clinical utility, followed by obstetric and gynecological applications. Shortly thereafter, abdominal organs and blood vessels became targets for ultrasound examination. The lung was long considered inaccessible for ultrasound due to its high air content. Work since the 1990s has
Huntington's disease (HD) is a neurodegenerative disorder caused by CAG expansions in the huntingtin (HTT) gene. Modelling Huntington's disease is challenging, as rodent and cellular models poorly recapitulate the disease as seen in aging humans. To address this, we generated induced neurons (iNs) through direct reprogramming of human skin fibroblasts, which retain age-dependent epigenetic charact
