New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition.

Unlabelled: Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three OPLAH mutations have been described: p.H870Pfs in a homozygous state, which results in a truncated protein, was reported in two siblings, and two heterozygous missense changes, p.

Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.

Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid.

Partial nephrectomy for the treatment of renal cell carcinoma (RCC) and the risk of end-stage renal disease (ESRD).

Objective: To assess whether radical nephrectomy (RN) compared with partial nephrectomy (PN) for the treatment of renal cell carcinoma (RCC) is associated with greater risk of end-stage renal disease (ESRD).

Patients And Methods: We performed a population-based, retrospective cohort study using linked administrative databases in the province of Ontario, Canada. We included individuals with pathologically confirmed RCC diagnosed between 1995 and 2010.

Evaluation of the need of elective implantable cardioverter-defibrillator generator replacement in primary prevention patients without prior appropriate ICD therapy.

Objective: It is not clear whether patients who received an implantable cardioverter-defibrillator (ICD) for primary prevention should undergo device replacement if they never experienced an appropriate ICD therapy during the first generator longevity. This study evaluated the incidence and predictors of appropriate ICD therapy after device replacement in this specific population.

Methods: From two large prospective ICD registries, we identified all primary prevention patients who had a first ICD replacement without previous appropriate ICD therapy.

Frequent attenders to the ED: patients who present with repeated asthma exacerbations.

Background: Asthma has been reported as one of the main causes of frequent attendance to the emergency department (ED), and many of those visits are potentially preventable. Understanding the characteristics of frequent attender (FA) patients with asthmatic exacerbations will help to identify factors associated with frequent attendance and improve case management. The aim of this study is to describe the characteristics of FA who present multiple times to the ED for asthma exacerbations.

Applying the natural disasters vulnerability evaluation model to the March 2011 north-east Japan earthquake and tsunami.

Natural hazards have a potentially large impact on economic growth, but measuring their economic impact is subject to a great deal of uncertainty. The central objective of this paper is to demonstrate a model--the natural disasters vulnerability evaluation (NDVE) model--that can be used to evaluate the impact of natural hazards on gross national product growth. The model is based on five basic indicators-natural hazards growth rates (αi), the national natural hazards vulnerability rate (ΩT), the natural disaster devastation magnitude rate (Π), the economic desgrowth rate (i.

Knowledge of signs and symptoms of heart attack and stroke among Singapore residents.

Aim: To determine the level of knowledge of signs and symptoms of heart attack and stroke in Singapore resident population, in comparison to the global community.

Methods: A population based, random sample of 7,840 household addresses was selected from a validated national sampling frame. Each participant was asked eight questions on signs and symptoms of heart attack and 10 questions on stroke.

Temporal variability of forest communities: empirical estimates of population change in 4000 tree species.

Long-term surveys of entire communities of species are needed to measure fluctuations in natural populations and elucidate the mechanisms driving population dynamics and community assembly. We analysed changes in abundance of over 4000 tree species in 12 forests across the world over periods of 6-28 years. Abundance fluctuations in all forests are large and consistent with population dynamics models in which temporal environmental variance plays a central role.

Long-term outcomes following Medtronic Open Pivot valved conduit.

Background And Aim Of The Study: Aortic root replacement is a complex procedure, though subsequent modifications of the original Bentall procedure have made surgery more reproducible. The study aim was to examine the outcomes of a modified Bentall procedure, using the Medtronic Open PivotTM valved conduit. Whilst short-term data on the conduit and long-term data on the valve itself are available, little is known of the long-term results with the valved conduit.

Crude ethyl acetate extract of marine microalga, Chaetoceros calcitrans, induces Apoptosis in MDA-MB-231 breast cancer cells.

Background: Marine brown diatom Chaetoceros calcitrans and green microalga Nannochloropsis oculata are beneficial materials for various applications in the food, nutraceutical, pharmaceutical and cosmeceutical industries.

Objective: This study investigated cytotoxicity of different crude solvent extracts from C. calcitrans and N.

Investigating the structure and measurement invariance of the Multigroup Ethnic Identity Measure in a multiethnic sample of college students.

In this article, we evaluate the factor structure of the Multigroup Ethnic Identity Measure (MEIM; Phinney, 1992) and test whether the MEIM exhibits measurement invariance across ethnic groups taken from a diverse sample of students from 30 different colleges and universities across the United States (N = 9,625). Initial analyses suggested that a bifactor model was an adequate representation of the structure of the MEIM. This model was then used in subsequent invariance tests.

Matrix metalloproteinases and tissue inhibitors of metalloproteinases in the aqueous humour of patients with primary angle closure glaucoma - a quantitative study.

Background: Altered levels of specific matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in the aqueous humour of primary open-angle glaucoma (POAG) eyes have been described. In this study, levels of specific MMPs and TIMPs in the aqueous humour of primary angle-closure glaucoma (PACG) eyes were measured and compared with those of POAG as well as non-glaucoma control eyes.

Methods: Aqueous humour from 16 PACG, 28 POAG and 27 control eyes were sampled during intraocular surgery.

Sex differences in outcomes and harasser characteristics associated with frightening sexual harassment appraisals.

This study examined data from U.S. military personnel (1,764 men; 4,540 women) to determine whether appraisals of sexual harassment as frightening mediate the relationship between perpetrator characteristics (perpetrator sex and rank) and three psychological/job outcomes (psychological distress, role limitations, and work satisfaction), and whether these relationships were stronger for women than men.

Effect of Using an Audiovisual CPR Feedback Device on Chest Compression Rate and Depth.

Introduction: The aim of the study is to investigate the effect of using Automated External Defibrillator (AED) audiovisual feedback on the quality of cardiopulmonary resuscitation (CPR) in a manikin training setting.

Materials And Methods: Five cycles of 30 chest compressions were performed on a manikin without CPR prompts. After an interval of at least 5 minutes, the participants performed another 5 cycles with the use of real time audiovisual feedback via the ZOLL E-Series defibrillator.

MicroRNAs associated with tumour migration, invasion and angiogenic properties in A549 and SK-Lu1 human lung adenocarcinoma cells.

Objectives: Dysregulation in miRNA expression contributes towards the initiation and progression of metastasis by regulating multiple target genes. In this study, variations in miRNA expression profiles were investigated between high and low invasive NSCLC cell lines followed by identification of miRNAs with targets governing NSCLC's metastatic potential.

Materials And Methods: Two NSCLC sub-cell lines possessing opposing migration and invasion properties were established using serial transwell invasion assays.

Triggers of key calcium signals during erythrocyte invasion by Plasmodium falciparum.

Invasion of erythrocytes by Plasmodium falciparum merozoites is a complex multi-step process mediated by specific interactions between host receptors and parasite ligands. Reticulocyte-binding protein homologues (RHs) and erythrocyte-binding-like (EBL) proteins are discharged from specialized organelles and used in early steps of invasion. Here we show that monoclonal antibodies against PfRH1 (an RH) block merozoite invasion by specifically inhibiting calcium signalling in the parasite, whereas invasion-inhibiting monoclonal antibodies targeting EBA175 (an EBL protein) have no effect on signalling.

Ablative efficiency of 532-nm laser vaporization compared to transurethral resection of the prostate: results from a prospective three-dimensional ultrasound volumetry study.

Purpose: To assess and compare postoperative prostate volume changes following 532-nm laser vaporization (LV) and transurethral resection of the prostate (TURP). To investigate whether differences in volume reduction are associated with differences in clinical outcome.

Methods: In this prospective, non-randomized study, 184 consecutive patients undergoing 120 W LV (n = 98) or TURP (n = 86) were included.

Recognition and treatment of out-of-hospital cardiac arrests by non-emergency ambulance services in Singapore.

Introduction: Prompt recognition of cardiac arrest and initiation of cardiopulmonary resuscitation (CPR) and defibrillation is necessary for good outcomes from out-of-hospital cardiac arrest (OHCA). This study aims to describe the recognition and treatment of OHCA in patients conveyed by non-emergency ambulance services (EAS) in Singapore.

Materials And Methods: This is a multi-centre, retrospective chart review, of cases presenting to public emergency departments (EDs), conveyed by non-EAS and found to be in cardiac arrest upon ED arrival.

Effect of location of out-of-hospital cardiac arrest on survival outcomes.

Introduction: This study aims to study how the effect of the location of patient collapses from cardiac arrest, in the residential and non-residential areas within Singapore, relates to certain survival outcomes.

Materials And Methods: A retrospective cohort study of data were done from the Cardiac Arrest and Resuscitation Epidemiology (CARE) project. Out-of- hospital cardiac arrest (OHCA) data from October 2001 to October 2004 (CARE) were used.

Normal Sequence and Activity but Reduced Levels of DNA-Pkcs in Human Lymphoblastic Cells Implicate Impaired Protein Stability with Radiosensitive Phenotype.

Background: Non-homologous end joining (NHEJ) is the main repair pathway for DNA double strand breaks (DSBs) induced by ionizing radiation in mammalian cells. Subsets of cancer patients are hypersensitive to radiotherapy after standard doses. We sought to determine the radiosensitivity of human lymphoblastic cells (LB0005) for the abnormality in NHEJ components.

Current discharge management of acute coronary syndromes: data from the Rijnmond Collective Cardiology Research (CCR) study.

Background: Medical discharge management of acute coronary syndromes (ACS) remains suboptimal outside randomised trials and constitutes an essential quality benchmark for ACS. We sought to evaluate the rates of key guideline-recommended pharmacological agents after ACS and characteristics associated with optimal treatment at discharge.

Methods: The Rijnmond Collective Cardiology Research (CCR) registry is an ongoing prospective, observational study in the Netherlands that aims to enrol 4000 patients with ACS.