Deep tubewell microbial water quality and access in arsenic mitigation programs in rural Bangladesh.

The objective of this paper is to determine whether deep tubewells installed through arsenic mitigation efforts in rural Bangladesh provide better drinking water microbial quality compared to shallow tubewells. We conducted a stratified random cross-sectional survey of 484 households to assess microbial contamination of deep tubewell water at source and at point of use (POU) compared to shallow tubewell water using the Compartment Bag Test. In addition, we measured storage time, distance, travel time and ownership status among both sets of users to assess deep tubewell efficacy and under what conditions they offer poorer or better water quality. Differences in tubewell characteristics were compared using non-parametric Mann-Whitney U tests and two-proportion Z-tests. Prevalence ratios of microbial contamination stratified by water quality, storage time and distance to tubewells and ownership were estimated using unadjusted Mantel-Haenszel tests. There was no significant difference in microbial contamination between shallow and deep tubewells at source. The presence of POU water microbial contamination in storage containers in deep tubewell households was 1.11 times the prevalence in shallow tubewell storage containers (95% CI = 0.97-1.27). Deep tubewell users stored water longer and walked significantly farther to obtain water compared to shallow tubewell users. Among deep tubewell households, those residing farther away from the source were 1.24 times as likely to drink contaminated water from storage containers compared to those located nearby (95% CI = 1.04-1.48). Our findings suggest that deep tubewells have comparable water quality to shallow tubewells at source, but increasing distance from the household exacerbates risk of microbial contamination at POU.

A wireless optical power system for medical implants using low power near-IR laser.

An alternative method of transcutaneous wireless optical energy supply to an artificial cardiac pacemaker has been conceived, thereby negating the possibility of electromagnetic interference. In this research, a comparative analysis is made between two distinct arrays of photovoltaic cells, consisting of two different geometries. Being powered by a 5 mW 750 nm laser, that has a different spot size for each topology; both models are tested by their ability to charge a 150 mAh rechargeable LiPo battery, while being embedded underneath a layer of skin tissue. This system in turn, regulates the power supplied to a low power medical implant (<; 10 mW), in the place of conventional batteries. For a charging period of 60 minutes, results indicate that a pacemaker utilizing this system can sustain operation for nearly 85 hours, without any noticeable side-effects or changes in temperature.

Novel SPG20 mutation in an extended family with Troyer syndrome.

Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended consanguineous family in the United Arab Emirates. Molecular analysis involved Whole Exome Sequencing and Sanger sequencing for identification and confirmation of the causative variant respectively. In silico tools including CADD and Polyphen-2 were used to assess pathogenicity of the variant. The clinical description of these patients included spastic paraparesis, motor and cognitive delay, gait abnormalities, musculoskeletal features, as well as white matter abnormalities and emotional liability. Molecular analysis revealed a novel homozygous missense mutation in SPG20 (c.1324G > C; p.Ala442Pro) occurring at an evolutionarily conserved residue in the Plant-Related Senescence domain of Spartin. The mutation segregated with the clinical phenotype in all patients. In silico algorithms predict the mutation to be disease causing, and the variant had not been previously reported in public or ethnic specific variant repositories.

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.

BACKGROUND: Intellectual disability (ID) features in numerous heritable medical conditions that result from ATRX mutations. Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. In addition to ID, genitourinary and craniofacial abnormalities are regularly observed with or without alpha-thalassemia. AIMS: The study sought to characterize two cases of ATR-X in a Yemeni family clinically and molecularly. METHODS: PCR amplification and Sanger sequencing were used to study the ATRX gene in a Yemeni family. Also, methylation-sensitive PCR was used to perform X-inactivation studies. CADD, SNAP2 and PolyPhen-2 helped to predict the functional consequences of the variant. RESULTS: Molecular testing revealed a novel hemizygous missense mutation (c.5666T>G) in the ATRX gene in the two Yemeni brothers. This mutation was found in a heterozygous state in the mother, with the chromosome harboring the mutated allele being under strongly skewed X-inactivation. CONCLUSIONS: The mutated gene is predicted to have a disrupted SNF-2 domain at a conserved residue; p.Leu1889Trp, which is deemed functionally damaging. This report offers, for the first time, full clinical and molecular characterization of a novel ATRX variant in an Arab family.

The profile of HLA-DRB1 alleles in Arabs with type 1 diabetes; meta-analyses.

Genes from the HLA complex have a major contribution in type 1 diabetes (T1D), which results from an interplay between environmental and genetic factors. The latter can explain some of the geographic variability in T1D occurrence around the world. Of a particular importance in this regard are the HLA-DR, -DP and -DQ loci. Consequently, we aimed at elucidating the collective genetic profiles of various alleles relating to HLA-DRB1 and -DP in T1D patients throughout the Arab World using the tools of meta-analysis. As for HLA-DQA1 and DQB1 alleles; this analysis was completed and published previously (see Introduction). As a result of limited availability of relevant studies of the HLA-DP locus, only HLA-DRB1 alleles were tackled in this paper. Our study showed that significant increases in T1D risk resulted from harboring the alleles DRB1*03:01 and *04:05 (odds ratio 7.76 and 7.52, respectively). DRB1*04:01 and *04:02 were also predisposing for T1D in Arabs. Very strong evidence supported the protective effects of DRB1*10:01, *13:01, *15:02 and *16:01, with low heterogeneity and no publication bias. The results from the series of meta-analyses performed in this study help to complete the global genetic epidemiological map of T1D by providing statistically robust data from the Arab World.

Association of HLA-DQA1 and -DQB1 alleles with type I diabetes in Arabs: a meta-analyses.

This study aimed at assessing the nature and significance of associations between various alleles of HLA-DQA1, HLA-DQB1, and type I diabetes (T1D) in Arab populations. Evidence from literature (published before 20 April 2015) was amassed and analysed through multiple meta-analyses, which yielded effect summary odds ratios and 95% confidence intervals for 24 alleles and 4 haplotypes. A total of 1273 cases and 1747 controls from 16 studies were analysed. High levels of significance were obtained to support higher T1D risk when harbouring DQA1*03:01. The alleles DQB1*02:01 and *03:02 and the haplotypes DR3 and DR4 were significant risk factors, albeit with high publication heterogeneity. The protective effects of DQA1*01:01, DQB1*05:03, *06:02, *06:03, and *06:04 were robustly suggested by all indicators of meta-analyses. The haplotypes DR7 and DR11 were strongly suggested to be protective in Arabs. A relatively small number of studies have emerged from Arab countries, mostly with inadequate power on an individual basis. This study fills the gap by providing significant size effect of human leukocyte antigen (HLA) alleles and completes the continuum of global ethnic differences in this context.

Rapid detection of sewer defects and blockages using acoustic-based instrumentation.

Sewer flooding incidents in the UK are being increasingly associated with the presence of blockages. Blockages are difficult to deal with as although there are locations where they are more likely to occur, they do occur intermittently. In order to manage sewer blockage pro-actively sewer managers need to be able to identify the location of blockages promptly. Traditional closed-circuit television (CCTV) inspection technologies are slow and relatively expensive so are not well suited to the rapid inspection of a network. This is needed if managers are to be able to address sewer blockages proactively. This paper reports on the development of an acoustic-based sensor. The sensor was tested in a full scale sewer pipe in the laboratory and it was shown that it is able to find blockages and identify structural aspects of a sewer pipe such as a manhole and lateral connection. Analysis of the received signal will locate a blockage and also provide information on its character. The measurement is very rapid and objective and so inspections can be carried out at much faster rates than using existing CCTV technologies.

Early experience of a fall and fracture prevention clinic at Mayo General Hospital.

BACKGROUND: Falls in the elderly are a significant public health problem. Previous studies have shown that most falls are multifactorial and an efficacious way of reducing the risk of falling is provided by a falls clinic. AIMS: A falls clinic runs every 2 weeks at Mayo General Hospital; we report on the activity of this clinic during its first year. METHODS: We performed a chart review and collected the following data. Thirty-seven patients attended the clinic. All patients were seen by a physiotherapist, occupational therapist, physician and pharmacist. Six patients had a further fall within a 12-month period; 2 of these suffered a further fracture. No patients were readmitted to hospital. CONCLUSIONS: The results show a reduction in fall occurrence from previously reported rates in this at-risk population. We find the falls clinic a convenient and effective method of managing elderly people who are at increased risk of falling.

Rapid sonic characterisation of sewer change and obstructions.

This paper reports on the development of a low-cost, rapidly deployable sensor for surveying live sewers for blockages and structural failures. The anticipated cost is an order of magnitude lower than current techniques. The technology is based on acoustic normal model decomposition, The instrument emits short coded acoustic signals which are reflected from any sewer wall defect. The acoustic signals can be short Gaussian pulses or longer sinusoidal sweeps and pseudo-random noise. The processing algorithms used on the reflected signal can predict the extent and geometry of the pipe deformation, and the locations and approximate size of common blockages. The effect of the water level on the frequency of the fundamental mode has also been investigated. It is shown that the technique can be adapted to work reliably in relatively large 600 mm diameter sewer pipes.

A comparison of the laryngeal mask airway with facemask and oropharyngeal airway for manual ventilation by critical care nurses in children.

The laryngeal mask airway is included as a first line airway device during adult resuscitation by first responders. However, there is little evidence for its role in paediatric resuscitation. Using anaesthetised children as a model for paediatric cardiopulmonary arrest, we compared the ability of critical care nurses to manually ventilate the anaesthetised child via the laryngeal mask airway compared with the facemask and oropharyngeal airway. The airway devices were inserted in random order and chest expansion was measured using an ultrasound distance transducer. The critical care nurses were able to place the laryngeal mask airway and achieve successful ventilation in 82% of children compared to 70% using the facemask and oropharyngeal airway, although the difference was not statistically significant (p = 0.136). The median time to first successful breath using the laryngeal mask airway was 39 s compared to 25 s using the facemask (p < 0.001). In this group of nurses, we did not show a difference in ventilation via a laryngeal mask airway or facemask, although facemask ventilation was achieved more quickly.

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.

Two common classes of deletions are described in the literature in individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3 of the PWS/AS critical region on chromosome 15q11-->q13. We present here a novel observation of an approximately 253-kb deletion between BP1 and BP2 on 15q11.2, in a 3(1/2)-year-old boy, who was referred to us with a clinical suspicion of having Angelman syndrome and presenting with mental retardation, neurological disorder, developmental delay and speech impairment. Karyotype and FISH results were found to be normal. The microdeletion between BP1 and BP2 includes four genes - NIPA1, NIPA2, CYFIP1 and TUBGCP5 which was detected by a high-resolution oligonucleotide array-CGH that was further validated by a Multiplex Ligation-dependent Probe Amplification (MLPA) assay. The same deletion was observed in the father who presented with similar but relatively milder clinical features as compared to the affected son. Methylation studies by methylation-specific MLPA (MS-MLPA) of the SNRPN imprinting center (IC) showed a normal imprinting pattern, both in the patient and the father. To our knowledge a microdeletion limited only to the BP1-BP2 region has not yet been reported. The familial genetic alteration together with the striking clinical presentation in this study are interesting, but from our single case study it is difficult to suggest if the deletion is causative of some of the abnormal features or if it is a normal variant. The study however further strengthens the fact that genome-wide analysis by array CGH in individuals with developmental delay and mental retardation is very useful in detecting such hidden interstitial chromosomal rearrangements.

The occurrence of bacteraemia associated with the use of oral and nasopharyngeal airways.

In order to determine whether placement of oral or nasopharyngeal airways during anaesthesia induces a significant bacteraemia, 36 ASA grade 1 or 2 patients undergoing body surface surgery, in whom it was anticipated that spontaneous respiration would be maintained, were randomly allocated to one of two groups. One group was given oral airways and the other, nasopharyngeal. A series of blood samples, which were taken before and after airway insertion, were cultured aerobically and anaerobically. Nasal and oral swabs were taken at the same time. Single isolates of Corynebacterium species and Acinetobacter species, together with two isolates of Staphylococcus epidermidis were grown from one culture bottle from 4 of the 36 patients studied. None of the oral or nasal swabs, or any of the subsequent or previous blood samples produced positive cultures for these organisms in these four patients. We believe that these results represent skin commensal contamination rather than bacteraemia in these four patients, and that bacteriological considerations should not influence decisions about the type of airway used during anaesthesia. However, prophylactic antibiotic therapy should still be provided for all high risk cases.