27 research outputs found

    Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

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    Purpose:Despite greatly improved morbidity and mortality among infants with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) since the implementation of universal newborn screening (NBS), a population of neonates still becomes ill before their positive screen results are available. Exclusive breastfeeding is a proposed risk factor in this group. Since initial studies of MCAD NBS, breastfeeding rates have increased substantially. In this study, we quantify the current risk of early decompensation in neonates with MCAD and identify factors associated with poor outcomes.Methods:We completed a retrospective analysis of neonates with MCAD referred to our center between 2010 and 2015.Results:Of 46 infants with MCAD, 11 (23.9%) were symptomatic before the return of the NBS results. Four died or had cardiac arrest; the remaining seven had lethargy and hypoglycemia. All symptomatic patients were exclusively breastfed; only 40.6% of asymptomatic patients were exclusively breastfed. Breastfeeding rates increased from 45.5% in 2010-2011 to 64.7% in 2012-2013 and 87.5% in 2014-2015. Over these same periods, rates of early decompensation increased from 9.09% to 23.5% and 75%, respectively.Conclusions:Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting NBS results

    How the kinetochore couples microtubule force and centromere stretch to move chromosomes

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    The Ndc80 complex (Ndc80, Nuf2, Spc24, Spc25) is a highly conserved kinetochore protein essential for end-on anchorage to spindle microtubule plus-ends and for force generation coupled to plus-end polymerization and depolymerization. Spc24/Spc25 at one end of the Ndc80 complex binds the kinetochore. The N-terminal tail and CH domains of Ndc80 bind microtubules, and an internal domain binds microtubule-associated proteins (MAPs) such as the Dam1 complex. To determine how the microtubule and MAP binding domains of Ndc80 contribute to force production at the kinetochore in budding yeast, we have inserted a FRET tension sensor into the Ndc80 protein about halfway between its microtubule binding and internal loop domains. The data support a mechanical model of force generation at metaphase where the position of the kinetochore relative to the microtubule plus-end reflects the relative strengths of microtubule depolymerization, centromere stretch and microtubule binding interactions with Ndc80 and Dam1 complexes

    Fat distribution in men of different waist girth, fitness level and exercise habit

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    Background: The risk of chronic disease is lower in obese men who are fit and active than obese men who are unfit and inactive. Methods/Objectives: Magnetic resonance imaging and spectroscopy were used to assess total and regional adipose tissue in 13 men who were slim, fit and active (the slim-fit), in 12 men who were slim, unfit and inactive (the slim-unfit), in 13 men who were fat, fit and active (the fat-fit) and in 12 men who were fat, unfit and inactive (the fat-unfit), in order to investigate the hypothesis that visceral fat and liver fat are lower in the fat-fit than the fat-unfit. Waist girth was used to distinguish slim men (less than or equal to90 cm) and fat men (greater than or equal to100 cm). Maximal oxygen consumption was used to identify fit men (above average for age) and unfit men (average or below for age). Fit men reported at least 60 min of vigorous aerobic activity per week and unfit men reported no regular moderate or vigorous activity in the last 2 years. Results: Total fat was not significantly different in the slim-fit and the slim unfit, but the proportion of internal fat was significantly lower (P<0.05) and the proportion of visceral fat was almost significantly lower (P=0.06) in the slim-fit than all other groups. Total fat was not significantly different in the fat-fit and the fat-unfit, but visceral fat and liver fat were significantly lower in the fat-fit than the fat-unfit (P<0.01). Waist girth and years of exercise explained 84% of the variance in total fat, waist girth and maximal oxygen consumption explained 70% of the variance in visceral fat, and waist girth alone explained 25% of the variance in liver fat. Conclusion: Chronic disease risk may be lower because visceral fat and liver fat are lower in men who are fat, fit and active
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