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ltiagent chemotherapy.OBJECTIVE This study evaluates reocclusion prognostic outcomes and explores reocclusion risk factors after mechanical thrombectomy (MT) in Chinese stroke patients. METHODS Altogether, 614 patients with AIS with successful recanalization after MT were recruited in this study and divided into the reocclusion and the non-reocclusion group depending on the 24-h imaging results after MT. Differences between the two groups were compared including 24-h and 7-day National Institutes of Health Stroke Scale (NIHSS) scores, 90-day modified Rankin scale(mRS) scores, good prognosis (mRS0-2) rates, incidence of intracranial hemorrhage, and 90-day mortality. RESULTS Forty-four (7.2%) patients experienced reocclusion within 24 h. Compared with the non-reocclusion group, patients in the reocclusion group had higher 24-h (15 vs. 13) and 7-day (15 vs. 9) NIHSS scores, 90-day mRS scores (4 vs. 3), and 90-day mortality rates (34.1% vs. 18.6%); lower rates of good prognosis (13.6% vs. 9.3%); and a higher incidence of early neurological deterioration (36.4% vs. 14.7%). Age, internal carotid artery occlusion (ICA), intravenous thrombolysis (IVT), number of thrombectomy passes, stent implantation, and levels of D-dimer (adjusted odds ratio and 95% confidence interval 0.97, 0.94-0.99; 2.40, 1.10-5.23; 2.21, 1.05-4.66; 2.60, 1.04-6.47; 0.25, 0.09-0.67; and 1.06, 1.01-1.12, respectively) were independently associated with 24-h reocclusion. INTERPRETATION The prognosis of reocclusion after MT was poor. Timely evaluation of these factors including age, D-dimer, ICA occlusion, IVT, number of passes, and stent implantation and appropriate intervention could reduce the incidence of reocclusion for Chinese stroke patients. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.OBJECTIVE To investigate the pathophysiology of visual snow (VS), through a combined functional neuroimaging and magnetic resonance spectroscopy (1 H-MRS) approach. METHODS We applied a functional MRI block-design protocol studying the responses to a visual stimulation mimicking VS, in combination with 1 H-MRS over the right lingual gyrus, in 24 patients with VS compared to an equal number of age- and gender-matched healthy controls. RESULTS We found reduced BOLD responses to the visual stimulus with respect to baseline in VS patients compared to controls, in the left (k = 291; P = 0.025; peak MNI coordinate [-34 12 -6]) and right (k = 100; P = 0.003; peak MNI coordinate [44 14 -2]) anterior insula. TPX-0005 chemical structure Our spectroscopy analysis revealed a significant increase in lactate concentrations in patients with respect to controls (0.66 ± 0.9 mmol/L vs. 0.07 ± 0.2 mmol/L; P  less then  0.001) in the right lingual gyrus. In this area, there was a significant negative correlation between lactate concentrations and BOLD responses to visual stimulation (P = 0.004; r = -0.42), which was dependent on belonging to the patient group. INTERPRETATION As shown by our BOLD analysis, VS is characterized by a difference in bilateral insular responses to a visual stimulus mimicking VS itself, which could be due to disruptions within the salience network. Our results also suggest that patients with VS have a localized disturbance in extrastriate anaerobic metabolism, which may in turn cause a decreased metabolic reserve for the regular processing of visual stimuli. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.BACKGROUND Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoid dissection and sudden death. These vascular damages are classically associated with premature osteoarthritis and skeletal abnormalities. However, variable expressivity and incomplete penetrance are common with SMAD3 variants. METHODS To investigate the clinical variability observed within SMAD3 patients, we reviewed the phenotypic and genetic data of 22 new patients from our Centre and of 133 patients reported in the literature. From this cohort of 155 mutated individuals, we first aimed to delineate an estimated frequency of the main clinical signs associated with SMAD3 pathogenic variants and, then, to look for genotype-phenotype correlations, mainly to see if the aortic phenotype (AP) could be predicted by the SMAD3 variant type. RESULTS We showed, herein, the absence of correlation between the SMAD3 variant type and the occurrence of an AP in patients. CONCLUSION Therefore, this report brings additional data for the genotype-phenotype correlations of SMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.Primary congenital glaucoma (PCG) and anterior segment defects (ASDs) are rare ocular malformations diagnosed early in life which can cause blindness. Pathogenic variants in several genes have been linked to these conditions, but little is known about nongenetic risk factors. We investigated the association between maternal nutrition and PCG and ASDs in the National Birth Defects Prevention Study, a large population-based, multicenter case-control study of major birth defects in the United States. Mothers of cases (n = 152) and control infants without a birth defect (n = 9,178) completed an interview which included a food frequency questionnaire capturing usual dietary intake in the year before pregnancy. Maternal nutrition was assessed through individual nutrient intake, calculating a Diet Quality Index for Pregnancy (DQI-P) score for each mother, and using latent class analysis to empirically derive four dietary patterns. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using logistic regression. The results for individual nutrients varied, with some having an inverse or U-shaped pattern of association with increasing intake. The DQI-P was not associated with risk of PCG and ASDs (aOR 0.91; CI 0.49-1.66, highest vs. lowest quartile). The dietary pattern analysis suggested lower odds among women with a Prudent and Mexican dietary pattern (aOR 0.82, 95% CI 0.52-1.29; aOR 0.80, 95% CI 0.36-1.78, respectively) compared to those with a Western dietary pattern. We found that higher intake of some nutrients and certain dietary patterns may be inversely associated with PCG and ASDs, though caution is urged due to imprecision of estimates. © 2020 Wiley Periodicals, Inc.