Lower quarter Y balance test: reliability and relation to anthropometric parameters

This study aimed to analyze the Lower Quarter Y Balance Test (Y-BT) reliability in prepubescent male soccer players, as well as the relation between this dynamic balance test performance and some anthropometric parameter

Reliability and validity of a 20-s alternative to the wingate anaerobic test in team sport male athletes.

The intent of this study was to evaluate relative and absolute reliability of the 20-s anaerobic test (WAnT20) versus the WAnT30 and to verify how far the various indices of the 30-s Wingate anaerobic test (WAnT30) could be predicted from the WAnT20 data in male athletes. The participants were Exercise Science majors (age: 21.5±1.6 yrs, stature: 0.183±0.08 m, body mass: 81.2±10.9 kg) who participated regularly in team sports. In Phase I, 41 participants performed duplicate WAnT20 and WAnT30 tests to assess reliability. In Phase II, 31 participants performed one trial each of the WAnT20 and WAnT30 to determine the ability of the WAnT20 to predict components of the WAnT30. In Phase III, 31 participants were used to cross-validate the prediction equations developed in Phase II. Respective intra-class correlation coefficients (ICC) for peak power output (PPO) (ICC = 0.98 and 0.95) and mean power output (MPO) (ICC 0.98 and 0.90) did not differ significantly between WAnT20 and WAnT30. ICCs for minimal power output (POmin) and fatigue index (FI) were poor for both tests (range 0.53 to 0.76). Standard errors of the means (SEM) for PPO and MPO were less than their smallest worthwhile changes (SWC) in both tests; however, POmin and FI values were "marginal," with SEM values greater than their respective SWCs for both tests values. Stepwise regression analysis showed that MPO had the highest coefficient of predictability (R = 0.97), with POmin and FI considerable lower (R = 0.71 and 0.41 respectively). Cross-validation showed insignificant bias with limits of agreement of 0.99±1.04, 6.5±92.7 W, and 1.6±9.8% between measured and predicted MPO, POmin, and FI, respectively. WAnT20 offers a reliable and valid test of leg anaerobic power in male athletes and could replace the classic WAnT30

Measured and estimated WAnT₃₀ scores (values are means ±SD).

<p>MPO: Mean Power Output; POmin: Minimal Power Output; FI: Fatigue Index; Heter Coeff: Heteroscedasticity coefficient;</p>§<p>:Accept normality; dz: Cohen'd; LoA: Limits of agreement.</p><p>Measured and estimated WAnT₃₀ scores (values are means ±SD).</p

Regression equations to estimate WAnT₃₀ indices from first 20-s values of the same test.

<p>PPO: Peak Power Output; MPO_WAnT30: Mean Power Output of the WAnT₃₀; PO_{min WAnT30}: Minimal Power Output of the WAnT₃₀; FI_WAnT30: Fatigue Index of the WAnT₃₀; P₅: Power at the 5^th s; P₁₅: power at the 15^th s; P₂₀: Power at the 20^th s.</p><p>Regression equations to estimate WAnT₃₀ indices from first 20-s values of the same test.</p

Reliability of WAnT₂₀ (values are means ±SD).

<p><b><i>PPO</i></b>: Peak Power Output; <b><i>MPO</i></b>: Mean Power Output; <b><i>PO_min</i></b>: Minimal Power Output;<b><i>FI</i></b>: Fatigue Index;</p>§<p>:Accept normality; <b><i>dz</i></b>: Cohen'd; <b><i>Heter Coeff</i></b>: Heteroscedasticity coefficient; <b><i>ICC</i></b>: Intra Class Correlation Coefficient; <b><i>SWC</i></b>: Smallest Worth While Change; <b><i>SEM</i></b>: Standard Error of Measurement.</p><p>Reliability of WAnT₂₀ (values are means ±SD).</p

Reliability of the WAnT₃₀ (values are means ±SD).

<p>PPO: Peak Power Output; MPO: Mean Power Output; PO_min: Minimal Power Output;FI: Fatigue Index;</p>§<p>:Accept normality; dz: Cohen'd; Heter Coeff: Heteroscedasticity coefficient; ICC: Intra Class Correlation Coefficient; SWC: Smollest Worth While Change; SEM: Standard Error of Measurement.</p><p>Reliability of the WAnT₃₀ (values are means ±SD).</p

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

International audienceAlpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy