Rehabilitation of hand movements after stroke aims at skills that can be well retained and transferred to novel conditions. These functions may be altered by training schedules such as constant and variable practice. A total of 36 participants with hemiparesis completed one of these schedules counterbalanced. Precise isometric hand grip force production was practiced for 4 days with a target force of 25% maximum voluntary contraction. The constant group practiced only the target force, whereas the variable group practiced the same amount including ±5 and 10% maximum voluntary contraction. Target force presentation and feedback were provided visually. Results indicated that both practice schedule led to learning. Variable practice resulted in a superior performance in retention and transfer tests, suggesting that it may be effective not only in the healthy population but also in stroke rehabilitation. Correspondence to Tibor Vámos, MA, Bárczi Gusztáv Faculty of Special Needs Education, Institute for Methodology of Special Needs Education and Rehabilitation, Eötvös Loránd University, Ecseri út 3, H-1097 Budapest, Hungary Tel: +361 358 5519; e-mail: vamos.tibor@barczi.elte.hu Received November 17, 2017 Accepted January 11, 2018 Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
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Τρίτη 6 Φεβρουαρίου 2018
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies
Abstract
Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with two known mutational hotspots (p.E1309Dfs*4 (n = 5) and p.Q1062fs* (n = 3)), while 6/26 (23%) mutations were novel (p.K73Nfs*6, p.S254Hfs*12, p.S1072Kfs*9, p.E1547Kfs*11, p.L1564X and p.C1263Wfs*22). Biallelic mutations in MUTYH gene were revealed in 3/12 (25%) remaining subjects with polyposis and in 6/90 (6.7%) patients with colorectal cancer (CRC) carrying KRAS p.G12C substitution, but not in 231 early-onset CRC cases negative for KRAS p.G12C allele. In addition to known European founder alleles p.Y179C and p.G396D, this study revealed a recurrent character of MUTYH p.R245H germ-line mutation. Besides that, three novel pathogenic MUTYH alleles (p.L111P, p.R245S and p.Q293X) were identified. Targeted next generation sequencing of 7 APC/MUTYH mutation-negative DNA samples identified novel potentially pathogenic POLD1 variant (p.L460R) in one patient and known low-penetrant cancer-associated allele CHEK2 I157T in three patients. The analysis of 1120 healthy subjects revealed 15 heterozygous carriers of recurrent MUTYH mutations, thus the expected incidence of MUTYH-associated polyposis in Russia is likely to be 1:23 000.
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Phenotypic Characterization of KCTD3-related Developmental Epileptic Encephalopathy
ABSTRACT
The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with two pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from four consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination. One patient also had a multicystic kidney. Whole exome sequencing revealed two likely pathogenic homozygous variants in KCTD3 gene that fully segregated with the disease. KCTD3 gene belongs to a family of accessory subunits that regulate the biophysical properties of ion channels, and is highly expressed in the kidney and brain. In this largest series to date on KCTD3-mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging.
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Advanced Maternal Age and Maternal Education Disparity in Children with Autism Spectrum Disorder
Abstract
Objective Previous studies have shown inconsistent results with regard to the association between advanced parental age and autism spectrum disorder (ASD). The sociodemographic status of parents has been found to be associated with children with ASD, however. Therefore, a pathway analysis was undertaken of the roles of maternal age and education in ASD diagnosis and community screening, in a national birth cohort database, using a propensity score matching (PSM) method. Method The 6- and 66-month Taiwan Birth Cohort Study dataset was used (N = 20,095). The PSM exact matching method was used to select 1700 families (ratio of 1:4 between ASD diagnosis and control) from the Taiwan Birth Cohort Study dataset. Results (1) The results from the complete dataset and the PSM exact matching dataset both show that the risk of a child being diagnosed with ASD was increased by the mother being over 40 years old. (2) Although more children of mothers with lower-than-average education were positive on screening, more children of mothers with higher-than-average education were also diagnosed with ASD. Conclusions for Practice Advanced maternal age had a higher association with the diagnosis of ASD, and maternal educational disparity was found between ASD clinical diagnosis and community screening. Community and primary medical care services should pay more attention to children of parents with lower education during ASD screening to prevent delayed diagnosis.
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Subdecadal phytolith and charcoal records from Lake Malawi, East Africa imply minimal effects on human evolution from the ∼74 ka Toba supereruption
Source:Journal of Human Evolution, Volume 116
Author(s): Chad L. Yost, Lily J. Jackson, Jeffery R. Stone, Andrew S. Cohen
The temporal proximity of the ∼74 ka Toba supereruption to a putative 100–50 ka human population bottleneck is the basis for the volcanic winter/weak Garden of Eden hypothesis, which states that the eruption caused a 6-year-long global volcanic winter and reduced the effective population of anatomically modern humans (AMH) to fewer than 10,000 individuals. To test this hypothesis, we sampled two cores collected from Lake Malawi with cryptotephra previously fingerprinted to the Toba supereruption. Phytolith and charcoal samples were continuously collected at ∼3–4 mm (∼8–9 yr) intervals above and below the Toba cryptotephra position, with no stratigraphic breaks. For samples synchronous or proximal to the Toba interval, we found no change in low elevation tree cover, or in cool climate C3 and warm season C4 xerophytic and mesophytic grass abundance that is outside of normal variability. A spike in locally derived charcoal and xerophytic C4 grasses immediately after the Toba eruption indicates reduced precipitation and die-off of at least some afromontane vegetation, but does not signal volcanic winter conditions. A review of Toba tuff petrological and melt inclusion studies suggest a Tambora-like 50 to 100 Mt SO2 atmospheric injection. However, most Toba climate models use SO2 values that are one to two orders of magnitude higher, thereby significantly overestimating the amount of cooling. A review of recent genetic studies finds no support for a genetic bottleneck at or near ∼74 ka. Based on these previous studies and our new paleoenvironmental data, we find no support for the Toba catastrophe hypothesis and conclude that the Toba supereruption did not 1) produce a 6-year-long volcanic winter in eastern Africa, 2) cause a genetic bottleneck among African AMH populations, or 3) bring humanity to the brink of extinction.
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Evidence for rapid faunal change in the early Miocene of East Africa based on revised biostratigraphic and radiometric dating of Bukwa, Uganda
Source:Journal of Human Evolution, Volume 116
Author(s): Susanne Cote, John Kingston, Alan Deino, Alisa Winkler, Robert Kityo, Laura MacLatchy
Field expeditions to Bukwa in the late 1960s and early 1970s established that the site had a small but diverse early Miocene fauna, including the catarrhine primate Limnopithecus legetet. Initial potassium-argon radiometric dating indicated that Bukwa was 22 Ma, making it the oldest of the East African early Miocene fossil localities known at the time. In contrast, the fauna collected from Bukwa was similar to other fossil localities in the region that were several million years younger. This discrepancy was never resolved, and due to the paucity of primate remains at the site, little subsequent research took place.We have collected new fossils at Bukwa, reanalyzed the existing fossil collections, and provided new radiometric dating. 40Ar/39Ar incremental heating ages on lavas bracketing the site indicate that the Bukwa fossils were deposited ∼19 Ma, roughly 3 Ma younger than the original radiometric age. Our radiometric dating results are corroborated by a thorough reanalysis of the faunal assemblage. Bukwa shares taxa with both stratigraphically older localities (Tinderet, Napak) and with stratigraphically younger localities (Kisingiri, Turkana Basin) perfectly corresponding to our revised radiometric age.This revised age for Bukwa is important because it indicates that significant faunal turnover may have occurred in East Africa between 20 and 19 Ma. Bukwa samples immigrant taxa such as large suids, large ruminants, and ochotonids that are absent from stratigraphically older but well-sampled localities in the region, such as Tinderet (∼20 Ma) and Napak (20 Ma). Further age refinements for Bukwa and the entire East African early Miocene sequence will help to constrain the timing of this faunal turnover event, of particular importance in paleoanthropology since this temporal sequence also provides us with what is currently our best window into the early evolution of cercopithecoid and hominoid primates.
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Associations between physical activity, resilience, and quality of life in people with inflammatory bowel disease
Abstract
Aim
Research has shown that moderate-to-vigorous physical activity (MVPA) is associated with higher health-related quality of life (HRQOL) in healthy individuals. Recent studies have suggested that low- to moderate-intensity physical activity can be beneficial to HRQOL in people with inflammatory bowel diseases (IBD); however, studies investigating associations between MVPA and HRQOL in this population are lacking. PURPOSE: To understand the relationships among walking, MVPA, resilience, and HRQOL in people with IBD.
Methods
People with IBD (n = 242) completed questions about physical activity, resilience and HRQOL. Pearson product-moment correlations and multiple regression analyses were used to identify associations between physical activity and HRQOL. Analysis of covariance was used to compare HRQOL over quartiles of walking and MVPA with demographic variables as covariates.
Results
Both walking and MVPA were independently associated with physical (β = 0.21 and β = 0.26, respectively; p ≤ 0.001) but not mental HRQOL (p > 0.05). Higher volumes of MVPA were significantly associated with physical HRQOL (quartile 1 40.3 ± 9.0 vs. quartile 4 47.4 ± 9.0; p < 0.001) while higher volumes of walking were associated with both physical and mental HRQOL (p ≤ 0.01).
Conclusions
The findings suggest that engaging in higher volumes of MVPA above 150 min/week and walking, particularly above 60 min/week, are associated with improved HRQOL in people with IBD. Research would benefit from investigating participation in MVPA as a coping strategy, in a longitudinal manner, to determine which modes of activity may be most beneficial to people with IBD.
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