Plos One
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There is accumulating evidence that neurotrophins, like brain-derived neurotrophic factor (BDNF), may impact aging and Alzheimer's Disease. However, traditional genetic association studies have not found a clear relationship between BDNF and AD. Our goal was to test whether BDNF single nucleotide polymorphisms (SNPs) impact Alzheimer's Disease-related brain imaging and cognitive markers of disease. ⋯ No SNPs were significantly associated with baseline brain volume measures, however six SNPs were significantly associated with hippocampal and/or whole brain atrophy over two years (rs908867, rs11030094, rs6265, rs10501087, rs1157659, rs1491850). We also found an interaction between the BDNF Val66Met SNP and age with whole brain volume. Our imaging-genetics analysis in a large dataset suggests that while BDNF genetic variation is not specifically associated with a diagnosis of AD, it appears to play a role in AD-related brain neurodegeneration.
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Studies of syndesmosis injuries have concentrated on cadaver models. However, they are unable to obtain exact data regarding the stress and displacement distribution of various tissues, and it is difficult to compare models. We investigated the biomechanical effects of inferior tibiofibular syndesmosis injuries (ITSIs) and screw fixation on the ankle using the finite element (FE) method. ⋯ Severe syndesmosis injuries cause stress and displacement distribution of the ankle to change multidirectional ankle instability and should be treated by internal fixation. Though the transverse syndesmotic screw effectively stabilizes syndesmotic diastasis, it also changes stress distribution around the ankle and decreases the joint's range of motion (ROM). Therefore, fixation should not be performed for a long period of time because it is not physiologically suitable for the ankle joint.
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Clinical Trial
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
Brugada syndrome (BrS) is an inherited arrhythmogenic syndrome leading to sudden cardiac death, partially associated with autosomal dominant mutations in SCN5A, which encodes the cardiac sodium channel alpha-subunit (Nav1.5). To date some SCN5A mutations related with BrS have been identified in voltage sensor of Nav1.5. Here, we describe a dominant missense mutation (R1629Q) localized in the fourth segment of domain IV region (DIV-S4) in a Chinese Han family. ⋯ However, hyperpolarized shift of steady-state inactivation curve was identified in cells expressing R1629Q channel (WT: V1/2 = -81.1 ± 1.3 mV, n = 13; R1629Q: V1/2 = -101.7 ± 1.2 mV, n = 18). Moreover, R1629Q channel showed enhanced intermediate inactivation and prolonged recovery time from inactivation. In summary, this study reveals that R1629Q mutation causes a distinct loss-of-function of the channel due to alter its electrophysiological characteristics, and facilitates our understanding of biophysical mechanisms of BrS.
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To investigate the potential of reducing the radiation dose in prospectively electrocardiogram-triggered coronary computed tomography angiography (CCTA) while maintaining diagnostic image quality using an iterative reconstruction technique (IRT). ⋯ iterative reconstruction technique used in prospectively ECG-triggered 256-slice coronary CTA can provide radiation dose reductions of up to 62.5% with acceptable image quality.
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Vasopressin (AVP) secretion during an osmotic challenge is frequently altered in the immediate post-acute phase of septic shock. We sought to determine if this response is still altered in patients recovering from septic shock. ⋯ More than half of patients recovering from septic shock have an alteration of osmoregulation characterised by a dramatic decrease in vasopressin secretion and thirst perception during osmotic challenge. The mechanisms of this alteration but also of the relationship between haematosis and normal response remain to be elucidated.