35 research outputs found

    Association of circulating angiotensin converting enzyme activity with respiratory muscle function in infants

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    <p>Abstract</p> <p>Background</p> <p>Angiotensin converting enzyme (ACE) gene contains a polymorphism, consisting of either the presence (I) or absence (D) of a 287 base pair fragment. Deletion (D) is associated with increased circulating ACE (cACE) activity. It has been suggested that the D-allele of ACE genotype is associated with power-oriented performance and that cACE activity is correlated with muscle strength. Respiratory muscle function may be similarly influenced. Respiratory muscle strength in infants can be assessed specifically by measurement of the maximum inspiratory pressure during crying (Pi<sub>max</sub>). Pressure-time index of the respiratory muscles (PTImus) is a non-invasive method, which assesses the load to capacity ratio of the respiratory muscles.</p> <p>The objective of this study was to determine whether increased cACE activity in infants could be related to greater respiratory muscle strength and to investigate the potential association of cACE with PTImus measurements as well as the association of ACE genotypes with cACE activity and respiratory muscle strength in this population.</p> <p>Methods</p> <p>Serum ACE activity was assayed by using a UV-kinetic method. ACE genotyping was performed by polymerase chain reaction amplification, using DNA from peripheral blood. PTImus was calculated as (Pi<sub>mean</sub>/Pi<sub>max</sub>) × (Ti/Ttot), where Pi<sub>mean </sub>was the mean inspiratory pressure estimated from airway pressure, generated 100 milliseconds after an occlusion (P<sub>0.1</sub>), Pi<sub>max </sub>was the maximum inspiratory pressure and Ti/Ttot was the ratio of the inspiratory time to the total respiratory cycle time. Pi<sub>max </sub>was the largest pressure generated during brief airway occlusions performed at the end of a spontaneous crying effort.</p> <p>Results</p> <p>A hundred and ten infants were studied. Infants with D/D genotype had significantly higher serum ACE activity than infants with I/I or I/D genotypes. cACE activity was significantly related to Pi<sub>max </sub>and inversely related to PTImus. No association between ACE genotypes and Pdi<sub>max </sub>measurements was found.</p> <p>Conclusions</p> <p>These results suggest that a relation in cACE activity and respiratory muscle function may exist in infants. In addition, an association between ACE genotypes and cACE activity, but not respiratory muscle strength, was demonstrated.</p

    Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageing.

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    Prolonged unaccustomed exercise involving muscle lengthening (eccentric) actions can result in ultrastructural muscle disruption, impaired excitation-contraction coupling, inflammation and muscle protein degradation. This process is associated with delayed onset muscle soreness and is referred to as exercise-induced muscle damage. Although a certain amount of muscle damage may be necessary for adaptation to occur, excessive damage or inadequate recovery from exercise-induced muscle damage can increase injury risk, particularly in older individuals, who experience more damage and require longer to recover from muscle damaging exercise than younger adults. Furthermore, it is apparent that inter-individual variation exists in the response to exercise-induced muscle damage, and there is evidence that genetic variability may play a key role. Although this area of research is in its infancy, certain gene variations, or polymorphisms have been associated with exercise-induced muscle damage (i.e. individuals with certain genotypes experience greater muscle damage, and require longer recovery, following strenuous exercise). These polymorphisms include ACTN3 (R577X, rs1815739), TNF (-308 G>A, rs1800629), IL6 (-174 G>C, rs1800795), and IGF2 (ApaI, 17200 G>A, rs680). Knowing how someone is likely to respond to a particular type of exercise could help coaches/practitioners individualise the exercise training of their athletes/patients, thus maximising recovery and adaptation, while reducing overload-associated injury risk. The purpose of this review is to provide a critical analysis of the literature concerning gene polymorphisms associated with exercise-induced muscle damage, both in young and older individuals, and to highlight the potential mechanisms underpinning these associations, thus providing a better understanding of exercise-induced muscle damage

    An environmental assessment of the aquaculture potential of Lake Gawaan, Lake Lenneng and Lake Banao/Danum at the Mt. Province

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    Abstract only.This study reviews the existing conditions of the three Mt. Province lakes: Lake Gawaan, Lake Lenneng and Lake Banao/Danum. Three mechanisms were employed. First is the overview of the resource capabilities. This includes the geographical, physical and biological characteristics, as well as the identification of nearby communities and the possible market distribution channels. The physical characteristics are the watershed type, color of water, kind of shoreline, source of water, water fluctuation levels and transparency/turbidity. Biological and chemical characteristics comprise the primary productivity, dissolved oxygen, nitrate, pH, ammonia, and stock availability (catch composition, gear type, seasonal distribution and production rate). The second mechanism is the understanding of the limitations of the area and development prospects which could cater to the needs of the growing population. This tackles suitable aquaculture practices that may be adopted at the areas concerned in order to increase fish production at the Mt. Province. The last mechanism is to determine if the combined efforts of the non-government organizations, government agencies and other concerned groups could be improved to prevent a piece-rate resource development program. Results showed that favorable conditions for fish culture are present in the three lakes. Culture of fish in net cages and pens appears suitable for the lakes

    Revealing hidden genetic diagnoses in the ocular anterior segment disorders

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    PURPOSE: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion. METHODS: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis to investigate a cohort of 41 predominantly sporadic cases. RESULTS: We identified likely causative variants in 54% (22/41) of cases, including 51% (19/37) of sporadic cases and 75% (3/4) of cases initially referred as familial ASD. Two-thirds of sporadic cases were found to have heterozygous variants, which in most cases were de novo. Approximately one-third (7/22) of genetic diagnoses were found in rarely reported or recently identified ASD genes including PXDN, GJA8, COL4A1, ITPR1, CPAMD8, as well as the new phenotypic association of Axenfeld-Rieger anomaly with a homozygous ADAMTS17 variant. The remainder of the variants were in key ASD genes including FOXC1, PITX2, CYP1B1, FOXE3, and PAX6. CONCLUSIONS: We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes

    Formic Acid Oxidation on Palladium Electrodes - An Electrochemistry and ATR-SEIRAS Study

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    This chapter examines the range of sciences and technologies that converge around sports and the implications of this for issues of fairness and ethics. First, it outlines some of the recent scientific developments that speak to the convergence of disciplines pertinent to sports enhancements. Second, it considers the consequences of convergence within sport, inquiring into the practical ethical issues it provokes. Finally, it explores examples of technological effect in sport, which, collectively, articulate how far ranging are the many ways in which innovation converges on sports. In so doing, it provides a taxonomy of innovations which reveal the complexity of technological change in sports and the challenge of isolating artifice from nature
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