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Verification along with Examination associated with Pisatin Demethylase Task (Personal digital assistant ).
However, additional RCTs are warranted to determine the effects of nutritional support on well-nourished patients.BACKGROUND Intervention studies suggest an influence of breakfast dietary glycemic index (GI) on children's cognition. The Cognition Intervention Study Dortmund-GI-I study examined whether lunch dietary GI might have short-term effects on selected cognitive parameters. METHODS A randomized crossover study was performed at a comprehensive school on 2 test days. One hundred and eighty-nine participants (5th and 6th grade) were randomly assigned to one of the two sequences, medium-high GI (m-hGI) or high-medium GI (h-mGI), following block randomization. In the first period, one group received a dish containing hGI rice (GI 86) ad libitum, the other mGI rice (GI 62)-1 week later, in the second period, vice versa. Tonic alertness, task switching, and working memory updating were tested with a computerized test battery 45 min after beginning of lunch break. Treatment effects were estimated using the t test for normally distributed data or the Wilcoxon rank-sum test for non-normally distributed data. RESULTS The crossover approach revealed no effects of lunch dietary GI on the tested cognitive parameters in the early afternoon. However, we determined carryover effects for two parameters, and therefore analyzed only data of the first period. The reaction time of the two-back task (working memory updating) was faster (p = 0.001) and the count of commission errors in the alertness task was lower (p = 0.04) in the hGI group. CONCLUSION No evidence of short-term effects of lunch dietary GI on cognition of schoolchildren was found. Potential positive effects on single parameters of working memory updating and tonic alertness favoring hGI rice need to be verified.An amendment to this paper has been published and can be accessed via a link at the top of the paper.PURPOSE Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population. learn more METHODS We undertook an SER to identify primary literature from January 2007 to March 2019 describing health, clinical, reproductive, and psychosocial outcomes resulting from ES/GS in patients with CA/DD/ID. A narrative synthesis of results was performed. RESULTS We retrieved 2654 publications for full-text review from 7178 articles. Only 167 articles met our inclusion criteria, and these were primarily case reports or small case series of fewer than 20 patients. The most frequently reported outcomes from ES/GS were changes to clinical management or reproductive decision-making. Two studies reported on the reduction of mortality or morbidity or impact on quality of life following ES/GS. CONCLUSION There is evidence that ES/GS for patients with CA/DD/ID informs clinical and reproductive decision-making, which could lead to improved outcomes for patients and their family members. Further research is needed to generate evidence regarding health outcomes to inform robust guidelines regarding ES/GS in the care of patients with CA/DD/ID.PURPOSE Timely diagnosis and identification of etiology of pediatric mild-to-moderate sensorineural hearing loss (SNHL) are both medically and socioeconomically important. However, the exact etiologic spectrum remains uncertain. We aimed to establish a genetic etiological spectrum, including copy-number variations (CNVs) and efficient genetic testing pipeline, of this defect. METHODS A cohort of prospectively recruited pediatric patients with mild-to-moderate nonsyndromic SNHL from 2014 through 2018 (n = 110) was established. Exome sequencing, multiplex ligation-dependent probe amplification (MLPA), and nested customized polymerase chain reaction (PCR) for exclusion of a pseudogene, STRCP, from a subset (n = 83) of the cohort, were performed. Semen analysis was also performed to determine infertility (n = 2). RESULTS Genetic etiology was confirmed in nearly two-thirds (52/83 = 62.7%) of subjects, with STRC-related deafness (n = 29, 34.9%) being the most prevalent, followed by MPZL2-related deafness (n = 9, 10.8%). This strikingly high proportion of Mendelian genetic contribution was due particularly to the frequent detection of CNVs involving STRC in one-third (27/83) of our subjects. We also questioned the association of homozygous continuous gene deletion of STRC and CATSPER2 with deafness-infertility syndrome (MIM61102). CONCLUSION Approximately two-thirds of sporadic pediatric mild-to-moderate SNHL have a clear Mendelian genetic etiology, and one-third is associated with CNVs involving STRC. Based on this, we propose a new guideline for molecular diagnosis of these children.PURPOSE A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management. METHODS Retrospective review of patients seen over a two-year period in the RGC. RESULTS One hundred eleven patients (mean age 39.9 years) were referred to the RGC 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified. CONCLUSION An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions.
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