Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.

BACKGROUND: Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 g/dL), edema, and hyperlipidemia. Most children with NS are steroid-responsive and have a good prognosis following treatment with prednisolone. However, 10%-20% of them have steroid-resistant nephrotic syndrome (SRNS) and fail to respond to treatment. A significant proportion of these children progress to kidney failure. METHODS: This retrospective study aimed to determine the underlying genetic causes of SRNS among Omani children below 13 years old, over a 15-year period and included 77 children from 50 different families. We used targeted Sanger sequencing combined with next-generation sequencing approaches to perform molecular diagnostics. RESULTS: We found a high rate of underlying genetic causes of SRNS in 61 (79.2%) children with pathogenic variants in the associated genes. Most of these genetically solved SRNS patients were born to consanguineous parents and variants were in the homozygous state. Pathogenic variants in NPHS2 were the most common cause of SRNS in our study seen in 37 (48.05%) cases. Pathogenic variants in NPHS1 were also seen in 16 cases, especially in infants with congenital nephrotic syndrome (CNS). Other genetic causes identified included pathogenic variants in LAMB2, PLCE1, MYO1E, and NUP93. CONCLUSION: NPHS2 and NPHS1 genetic variants were the most common inherited causes of SRNS in Omani children. However, patients with variants in several other SRNS causative genes were also identified. We recommend screening for all genes responsible for SRNS in all children who present with this phenotype, which will assist in clinical management decisions and genetic counseling for the affected families.

Safety and performance of intravenous pumps and syringe drivers in hyperbaric environments.

INTRODUCTION: Critically ill patients require continuation of their care when receiving hyperbaric oxygen treatment. This care may be facilitated via portable electrically powered devices such as intravenous (IV) infusion pumps and syringe drivers, which may create risks in the absence of a comprehensive safety evaluation. We reviewed published safety data for IV infusion pumps and powered syringe drivers in hyperbaric environments and compared the evaluation processes to key requirements documented in safety standards and guidelines. METHODS: A systematic literature review was undertaken to identify English language papers published in the last 15 years, describing the safety evaluations of IV pumps and/or syringe drivers for use in hyperbaric environments. Papers were critically assessed in relation to the requirements of international standards and safety recommendations. RESULTS: Eight studies of IV infusion devices were identified. There were deficiencies in the published safety evaluations of IV pumps for hyperbaric use. Despite a simple, published process for evaluating new devices, and available guidelines for fire safety, only two devices had comprehensive safety assessments. Most studies focused only on whether the device functioned normally under pressure and did not consider implosion/explosion risk, fire safety, toxicity, oxygen compatibility or risk of pressure damage. CONCLUSIONS: Intravenous infusion (and other electrically powered) devices require comprehensive assessment before use under hyperbaric conditions. This would be enhanced by a publicly accessible database hosting the risk assessments. Facilities should conduct their own assessments specific to their environment and practices.

Evaluating Trauma Care Capabilities using the Essential Trauma Care Guidelines of the World Health Organization: Cross-sectional study of primary health centres in Muscat, Oman.

Objectives: This study aimed to evaluate trauma care capabilities at the primary care level in Muscat, Oman, using World Health Organization guidelines. Methods: This descriptive cross-sectional study was conducted between January and March 2015 at eight primary health centres in Seeb. An English-language questionnaire was distributed to the medical officer or nurse in-charge at each centre to determine the number of staff, total population being served, number of emergency trauma cases and availability of ambulances. Subsequently, 10 doctors from each health centre were randomly selected to assess the availability of physical resources as well as their trauma skills and knowledge. Results: There were limited physical and human resources for the management of trauma and a complete absence of trauma administrative functions, such as local trauma registries or quality improvement activities. Conclusion: This study highlighted the need to introduce national guidelines and improve the delivery of trauma services in Oman.

Bio-Hydrogen Production Using Landfill Leachate Considering Different Photo-Fermentation Processes.

Recently, it has become imperative to find new sustainable and renewable sources of energy, in order to avoid dependence on non-renewable traditional energy resources. This would help to overcome the depleting of natural resources for energy production. Hydrogen gas production using biological processes is one of the most attractive solutions in this regard, due to its high energy content and ecofriendly nature. Production of hydrogen using single photo-fermentation process and landfill leachate as substrate was carried out in this paper, by utilizing batch bio-reactor and anaerobic conditions. The pH value and temperature, play an essential role in a bio-hydrogen production process. Thus, in this study, the pH values considered were 6, 6.5, and 7.2, respectively, at a controlled temperature of 37 ± 1°C. This study investigated various schemes that have the possibility of producing hydrogen using; landfill leachate alone, with leachate and addition of inoculum such as sewage sludge, and with substrate such as sucrose and glucose. All experiments were conducted with and without mixing, for effective comparative study. Heat and pH pretreatment were applied in each experiment with the objectives of decreasing the activities of methane-producing bacteria and enhancing the activities of hydrogen-producing bacteria. The hydraulic retention time used in this study was 48 h, in order to obtain optimal performance of the schemes employed. Analysis of liquid leachate was performed for each experiment, and based on the obtained results, the maximum yield of hydrogen produced was 5,754 ml H2/L, with a medium pH scale of 6.0, fermentation temperature of 37 ± 1°C and constant mixing speed of 100 rpm.