59 research outputs found
Does Body Mass Index Influence the Physiological and Perceptual Demands Associated with Defensive Tactics Training in State Patrol Officers?
International Journal of Exercise Science 11(6): 319-330, 2018. The purpose of this investigation was to determine the physiological and perceptual demands associated with defensive tactics (DEFTAC) training among state patrol officers of different BMI (body mass index) categories. Twenty-four male state patrol officers (n = 24, age 36.00 + 7.86 yrs) voluntarily agreed to participate in data collection during a DEFTAC gauntlet. Anthropometric information (height (HT) 182.19 + 7.43 cm and weight (WT) 96.31 + 17.45 kg), body mass index (BMI), peak and average heart rates, duty weight, BLa, and RPE, were recorded. Officers were then divided into two-groups (Healthy BMI (BMI ≤ 25), n = 12, Overweight (BMI ≥ 25), n = 12). Analyses of covariance (ANCOVAs) were conducted to determine the effect of BMI on the outcome variables. Furthermore, a Pearson’s product-moment correlation coefficient was also conducted to determine if significant relationships between RPE, BLa, and HR existed between groups. Significant mean score differences between healthy and overweight officers were found in measures of age [t(22) 4.12, p\u3c 0.01, R2 = .44], and weight of duty gear [t(21) 3.96, p\u3c0.01, R2 = .33]. When used as a covariate, age also predicted average HR% [ F(1, 21) = 6.19, p \u3c .05, partial η2 = .24]. Significant relationships were found in the healthy group between RPE and DEFTAC time, DEFTAC time and score, as well as score and post BLa. Significant relationships for the overweight group between peak (HR) percentage and post BLa, peak (HR) percentage and RPE, DEFTAC time and duty weight, and between weight and DEFTAC time. The results of this study suggest that overweight officers may have lower DEFTAC scores when compared to their healthy counterparts. Based on the results, it seems reasonable to compare physiological variables from this population to those from combative sports as well as for officers to achieve and maintain a healthy BMI value in order to improve individual DEFTAC performance
Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility
Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologues. Using RNA sequencing, we show how 5 splice-site use is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide
Investigating teacher and learner experiences of the THRASS programme in an independent primary school
M.Ed.A concern with regard to the apparent drop in achievement levels in the area of literacy and the implementation of the Teaching Handwriting Spelling and Spelling Skills (THRASS) programme, introduced as part of the strategy to address the problem, prompted this research. A qualitative case study was undertaken in order to determine 1. The experiences of the Foundation Phase teachers from Grade 1 to Grade 3 with regard to THRASS in the first year of implementation. 2. The influence of THRASS on the spelling ages the spelling strategies and the independent written of the Foundation Phase learners. 3. Imperatives for management when introducing new programmes into schools. Using the chronological age of the learners as the baseline indicator the findings indicated that an age appropriate development in the spelling age of the Grade 1 learners. These results were similar to those of 2006 when a different system was being used. On average the Grade 2 and Grade 3 learners had a spelling age which was a year or more greater than their chronological age. These results were better than those recorded in 2006. The learners were using the majority of the strategies embedded in the THRASS programme and were experiencing greater confidence when attempting to complete independent written tasks. No conclusive evidence indicated the influence of THRASS on the independent written work of the learners. There was, however, evidence in support of the finding that the learners were using the majority of the strategies embedded in the programme. It became apparent, with regard to management, that ensuring the sustainability of programmes requires as much attention as the implementation of the programmes
Financial Literacy Education and Skills for Life
This report presents a review of the provision and accreditation of financial literacy education in England at the levels covered by Skills for Life (i.e. up to and including Level 2), not including financial advice and information. It is based upon data collected in the first half of 2004. Financial literacy education provision is mapped against the broad areas identified by the Financial Services Authority and the Basic Skills Agency (BSA) in the Adult Financial Capability Framework (FSA/BSA 2003). This is thought to be the first such attempt
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