16 research outputs found

    Auditory and language processing skills in Maltese children : a comparative study

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    Auditory processing disorder is described as a mixture of unrefined listening skills which, despite normal hearing, causes poor speech perception. These difficulties have also been reported in children with a diagnosis of language impairment (LI), literacy difficulties (LD)1, and attention-deficit/hyperactivity disorder (ADHD). The purpose of this study is to describe and compare the listening performance of typically developing (TD) children with those diagnosed with LI, LD, and ADHD on an assessment battery of auditory processing (AP) and language processing (LP). One hundred and one TD children and 53 children with a clinical diagnosis were assessed using four subtests of AP presenting linguistic stimuli, three AP subtests with non-linguistic stimuli and an assessment of LP. Parents of all children were required to fill in a questionnaire related to their listening difficulties. Parental report for the TD group on average yielded the lowest score, indicating fewer difficulties with listening skills in the TD group. The listening difficulties exhibited in the Maltese participants diagnosed with LI, LD and ADHD were mainly specific to the AP subtests using linguistic stimuli. The LI and LD groups generally performed significantly worse than the TD group on all AP subtests using linguistic stimuli, while the ADHD group performed significantly worse than the TD group on some of these tests. The same pattern did not emerge for the subtests using non-linguistic stimuli. Few significant effects between groups were evident. The LI groups were found to perform the weakest in all tests of language processing.peer-reviewe

    Orion Suit Loop Variable Pressure Regulator Development

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    The Orion Multi Purpose Crew Vehicle (MPCV) integrates the cabin and pressure suits with the core life support systems to provide life support during contingency depressurized cabin operations. To provide the multipule suit pressures between nominal pressurized cabin suited operations, suit leak checks, depressurized cabin suited operations, and elevated suit pressure for denitrification, a variable pressure regulator is needed. This paper documents the development and integrated testing of the suit loop regulator for Orion

    Variants in STAT4 and TMEM151B identified as potential causal factors in early-onset familial osteoporosis

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    Objective: Osteoporosis is a bone disease with a strong genetic background. The aim of the study was to identify the underlying genetic cause of early-onset osteoporosis in a Maltese pedigree.peer-reviewe

    AUDITORY AND LANGUAGE PROCESSING SKILLS IN MALTESE CHILDREN: A COMPARATIVE STUDY

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    Abstract. Auditory processing disorder is described as a mixture of unrefined listening skills which, despite normal hearing, causes poor speech perception. These difficulties have also been reported in children with a diagnosis of language impairment (LI), literacy difficulties (LD) 1 , and attention-deficit/hyperactivity disorder (ADHD). The purpose of this study is to describe and compare the listening performance of typically developing (TD) children with those diagnosed with LI, LD, and ADHD on an assessment battery of auditory processing (AP) and language processing (LP). One hundred and one TD children and 53 children with a clinical diagnosis were assessed using four subtests of AP presenting linguistic stimuli, three AP subtests with non-linguistic stimuli and an assessment of LP. Parents of all children were required to fill in a questionnaire related to their listening difficulties. Parental report for the TD group on average yielded the lowest score, indicating fewer difficulties with listening skills in the TD group. The listening difficulties exhibited in the Maltese participants diagnosed with LI, LD and ADHD were mainly specific to the AP subtests using linguistic stimuli. The LI and LD groups generally performed significantly worse than the TD group on all AP subtests using linguistic stimuli, while the ADHD group performed significantly worse than the TD group on some of these tests. The same pattern did not emerge for the subtests using non-linguistic stimuli. Few significant effects between groups were evident. The LI groups were found to perform the weakest in all tests of language processing

    Rationale, study design, and analysis plan of the Alveolar Recruitment for ARDS Trial (ART): Study protocol for a randomized controlled trial

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    Background: Acute respiratory distress syndrome (ARDS) is associated with high in-hospital mortality. Alveolar recruitment followed by ventilation at optimal titrated PEEP may reduce ventilator-induced lung injury and improve oxygenation in patients with ARDS, but the effects on mortality and other clinical outcomes remain unknown. This article reports the rationale, study design, and analysis plan of the Alveolar Recruitment for ARDS Trial (ART). Methods/Design: ART is a pragmatic, multicenter, randomized (concealed), controlled trial, which aims to determine if maximum stepwise alveolar recruitment associated with PEEP titration is able to increase 28-day survival in patients with ARDS compared to conventional treatment (ARDSNet strategy). We will enroll adult patients with ARDS of less than 72 h duration. The intervention group will receive an alveolar recruitment maneuver, with stepwise increases of PEEP achieving 45 cmH(2)O and peak pressure of 60 cmH2O, followed by ventilation with optimal PEEP titrated according to the static compliance of the respiratory system. In the control group, mechanical ventilation will follow a conventional protocol (ARDSNet). In both groups, we will use controlled volume mode with low tidal volumes (4 to 6 mL/kg of predicted body weight) and targeting plateau pressure <= 30 cmH2O. The primary outcome is 28-day survival, and the secondary outcomes are: length of ICU stay; length of hospital stay; pneumothorax requiring chest tube during first 7 days; barotrauma during first 7 days; mechanical ventilation-free days from days 1 to 28; ICU, in-hospital, and 6-month survival. ART is an event-guided trial planned to last until 520 events (deaths within 28 days) are observed. These events allow detection of a hazard ratio of 0.75, with 90% power and two-tailed type I error of 5%. All analysis will follow the intention-to-treat principle. Discussion: If the ART strategy with maximum recruitment and PEEP titration improves 28-day survival, this will represent a notable advance to the care of ARDS patients. Conversely, if the ART strategy is similar or inferior to the current evidence-based strategy (ARDSNet), this should also change current practice as many institutions routinely employ recruitment maneuvers and set PEEP levels according to some titration method.Hospital do Coracao (HCor) as part of the Program 'Hospitais de Excelencia a Servico do SUS (PROADI-SUS)'Brazilian Ministry of Healt

    Untangling the gender pay gap in radiation oncology.

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    10.1111/1754-9485.13442Journal of Medical Imaging and Radiation Oncolog

    Whole genome sequencing unravels new genetic determinants of early-onset familial osteoporosis and low BMD in Malta

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    BACKGROUND: Osteoporosis is a skeletal disease with a strong genetic background. The study aimed to identify the genetic determinants of early-onset familial osteoporosis and low bone mineral density (BMD) in a two-generation Maltese family.METHODS: Fifteen relatives aged between 28–74 years were recruited. Whole genome sequencing was conducted on 12 relatives and shortlisted variants were genotyped in the Malta Osteoporotic Fracture Study (MOFS) for replication.RESULTS: Sequential variant filtering following a dominant inheritance pattern identified rare missense variants within SELP, TGF-β2 and ADAMTS20, all of which were predicted to be likely pathogenic and participate in osteoimmunology. TGF-β2 c.1136C>T was identified in five individuals from the MOFS in heterozygosity, four of whom had osteopenia/osteoporosis at the lumbar spine and hip, and/or had sustained a low-trauma fracture. Heterozygosity for the ADAMTS20 c.4090A>T was accompanied by lower total hip BMD (p = 0.018) and lower total serum calcium levels in MOFS (p C exhibited a tendency for lower lumbar spine BMD and/or wrist fracture history relative to women with TT genotype.CONCLUSIONS: Our findings suggest that the identified variants, alone or in combination, could be causal factors of familial osteoporosis and low BMD, requiring replication in larger collections.peer-reviewe

    Identifying genetic factors for osteoporosis in Malta : a family-based study

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    INTRODUCTION: Osteoporosis is a complex metabolic bone disease having a strong genetic background and high heritability rate. An extended Maltese family having multiple members affected with primary osteoporosis (T-score: <-2.5 or Z-score: <-2.0) at the spine or hip was recruited, with the aim of identifying known and/or novel genes and gene variants contributing to osteoporosis pathogenesis.METHODS: A 2-generation family consisting of 15 relatives with ages ranging from 28 to 74 years was recruited. Biochemical analysis excluded any comorbidities affecting bone health and none of the relatives had osteogenesis imperfecta. Whole genome sequencing was performed on 12 relatives and a number of filtering schemes together with in silico modelling were applied to narrow down the list of potentially causal variants.RESULTS: Five missense variants segregating in a dominant inheritance pattern were shortlisted, all of which had an alternative allele frequency of ≤1% in the 1000Genome project. The gene variants identified were ADAMTS20 rs138035327, BMP1 rs368615556, SELP rs754086574, TGF-b2 rs773943154 and TRIM45 rs146244405. Replication of the ADAMTS20 rs138035327 variant in a case-control collection of 1045 Maltese postmenopausal women was performed to determine association with bone mineral density, fragility fracture risk and biochemical parameters, including serum calcium and alkaline phosphatase. Heterozygosity was associated with a 2-fold increased risk of low serum calcium levels (odds ratio: 2.3 (95% confidence interval 1.1-5.0), p=0.03).CONCLUSION: ADAMTS20 encodes a protease enzyme that cleaves aggrecan, required for cartilage and bone formation. Thus, functional follow-up is required to determine how the ADAMTS20 variant could be affecting calcium and bone homeostasis.DISCLOSURES: This work was funded by the Endeavour Scholarships Scheme.peer-reviewe
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