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Background and purpose: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1-related disease to (i) describe the prevalence of female PDHA1 carriers, (ii) determine whether they had symptoms and signs, and (iii) delineate the associated phenotype. Methods: In a natio
This paper introduces the MinCan database that presents mine-level estimates for the Canadian mining industry with a persistent annual coverage between 1950 and 2022. These estimates are based on archival maps and a selection of historical sources, which follows a hierarchy of criteria-based credibility and standardization. The information contained in MinCan covers 947 mines and provides informat
In this paper, curve-fitting and an artificial neural network (ANN) model were developed to predict R-Event. Expected number of new infections that arise in any event occurring over a total time in any space is termed as R-Event. Real-time data for the office environment was gathered in the spring of 2022 in a naturally ventilated office room in Roorkee, India, under composite climatic conditions.
The remodelling process in bones is closely related to electromechanical phenomena. In addition to streaming potentials and piezoelectricity, flexoelectricity has been found to serve as an initiator for remodelling in cortical bone. Since flexoelectricity is coupled to strain gradients, the effect is size-dependent and, accordingly, most relevant on small scales. This means that particularly micro
Earlier this year, authorities in the Xinjiang Uyghur Autonomous Region passed a revised version of the Xinjiang Regulations on Religious Affairs. The new rules emphasize the Sinicization of religion, ensuring that sites of religious worship, like mosques, reflect “Chinese characteristics and style.” Moreover, they are calling for the cultivation of “patriotic” religious leaders. Despite enshrinin
Childhood cancer survivors (CCS) require specialized follow-up throughout their lifespan to prevent or manage late effects of cancer treatment. Knowing the size and structure of the population of CCS is crucial to plan interventions. In this scoping review we reviewed studies that reported prevalence of CCS in Europe. We searched Medline, Web of Science, and Embase using permutations of terms refe
Electroactive polymers (EAPs) deform when subject to an electric field, which is generated by two or more electrodes. To ensure proper function of the EAP, these electrodes are connected to a source and they are therefore required to be continuous such that no isolated islands exist. Increasing an EAP’s performance using topology optimization while ensuring electrode connectivity is the goal of th
Reaction products in heterogeneous catalysis can be detected either on the catalyst surface or in the gas phase after desorption. However, if atoms are dissolved in the catalyst bulk, then reaction channels can become hidden. This is the case if the dissolution rate of the deposits is faster than their formation rate. This might lead to the underestimation or even overlooking of reaction channels
Tetrodotoxin (TTX) is a marine toxin responsible for many intoxications around the world. Its presence in some pufferfish species and, as recently reported, in shellfish, poses a serious health concern. Although TTX is not routinely monitored, there is a need for fast, sensitive, reliable, and simple methods for its detection and quantification. In this work, we describe the use of an automated pa
A continuously growing and mutating market with increasing demands on environmental sustainability, illuminated by unraveling environmental threats, highlights the need for greater resource efficiency in modern manufacturing industries. Machining has become pivotal in the pursuit of sustainability given its superior efficiency in manufacturing of metallic products. In theory, the efficiency of a m
BACKGROUND: Non-motor symptoms (NMS) are frequent in patients with idiopathic Parkinson's disease (IPD). Clinical expressions, postulated pathophysiological mechanisms, and responsiveness to antiparkinson medication represent differences between IPD and secondary Parkinsonism (SP).OBJECTIVE: To evaluate NMS expressions in IPD, SP, and a matched control group.METHODS: The accepted criteria for IPD
High-spin states in Zr89 were populated in the Se80(C13,4n) reaction, and γ-ray coincidences were measured using the Indian National Gamma Array. The level scheme of Zr89 has been extended up to spin I=49/2 with the observation of a new dipole band. Directional correlation and polarization asymmetries of the γ rays have been measured to determine spin and parity of the levels. Line shapes of sever
To outline further genetic mechanisms of transformation from follicular lymphoma (FL) to diffuse large B-cell lymphoma (DLBCL), we have performed whole genome array-CGH in 81 tumors from 60 patients [29 de novo DLBCL (dnDLBCL), 31 transformed DLBCL (tDLBCL), and 21 antecedent FL]. In 15 patients, paired tumor samples (primary FL and a subsequent tDLBCL) were available, among which three possessed
A rat liver cDNA library was constructed in the lambda gt11 expression vector. Three clones expressing alpha 1-microglobulin, an immunosuppressive plasma protein, were detected by screening with rabbit antiserum against rat alpha 1-microglobulin. The alpha 1-microglobulin activity from one of the clones, 6b, was confirmed with monoclonal antibodies in a solid phase radioimmunoassay. The nucleotide
