A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Objective

Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.

Methods

We prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes.

Results

We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.

Conclusion

Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.     

Networking emergency teams in Jerusalem

With the recent upsurge in terrorism, more and more attention is being directed at examining the effectiveness and efficiency of emergency teams. These teams tend to focus on their areas of expertise without necessarily communicating, cooperating or coordinating their operations. Research suggests that improved interpersonal communication and coordination enhances the overall work of each emergency team, and that their combined effort is far in excess of the sum of their individual endeavours. This paper outlines attempts made in Jerusalem to improve the performance of emergency teams and to help the helpers by holding training workshops, setting up a forum of co‐workers and encouraging dialogue among various emergency teams in the city. A planned intervention programme was designed to enable informal networking between team leaders. The programme had an impact on team workers and resulted in a more coordinated and effective service delivery during emergencies.     

Optimising of Scenedesmus sp. biomass production in chicken slaughterhouse wastewater using response surface methodology and potential utilisation as fish feeds

Production of Scenedesmus sp. biomass in chicken slaughterhouse wastewater (CSWW) is a promising alternative technique for commercial culture medium due to the high nutritional content of the generated biomass to be used as fish feeds. The current work deals with optimising of biomass production in CSWW using response surface methodology (RSM) as a function of two independent variables, namely temperature (10–30 °C) and photoperiod (6–24 h). The potential application of biomass yield as fish feeds was evaluated based on carbohydrate, protein and lipid contents. The results revealed that the best operating parameters for Scenedesmus sp. biomass production with high contents of carbohydrates, proteins and lipids were determined at 30 °C and after 24 h. The actual and predicted values were 2.47 vs. 3.09 g, 1.44 vs. 1.27 μg/mL, 29.9 vs. 31.60% and 25.75 vs. 28.44%, respectively. Moreover, the produced biomass has a high concentration of fatty acid methyl ester (FAME) as follows: 35.91% of C15:1; 17.58% of C24:1 and 14.11% of C18:1N9T. The biomass yields have 7.98% of eicosapentaenoic acid (EPA, C20:5N3) which is more appropriate as fish feeds. The Fourier transform infrared (FTIR) analysis of biomass revealed that the main functional groups included hydroxyl (OH), aldehyde (=C–H), alkanes and acyl chain groups. Scanning electron micrograph (SEM) and energy-dispersive X-ray spectroscopic analysis (EDS) indicated that the surface morphology and element distribution in biomass produced in BBM and CSWW were varied. The findings have indicated that the biomass produced in CSWW has high potential as fish feeds.

     

Takakura composting method for food wastes from small and medium industries with indigenous compost

Environmental Science and Pollution Research - The current work aimed to study the physical, chemical and biological properties of food wastes generated from small and medium industries by using...     

Rapid discrimination of plastic packaging materials using MIR spectroscopy coupled with independent components analysis (ICA)

Plastic packaging wastes increased considerably in recent decades, raising a major and serious public concern on political, economical and environmental levels. Dealing with this kind of problems is generally done by landfilling and energy recovery. However, these two methods are becoming more and more expensive, hazardous to the public health and the environment. Therefore, recycling is gaining worldwide consideration as a solution to decrease the growing volume of plastic packaging wastes and simultaneously reduce the consumption of oil required to produce virgin resin. Nevertheless, a major shortage is encountered in recycling which is related to the sorting of plastic wastes. In this paper, a feasibility study was performed in order to test the potential of an innovative approach combining mid infrared (MIR) spectroscopy with independent components analysis (ICA), as a simple and fast approach which could achieve high separation rates. This approach (MIR-ICA) gave 100% discrimination rates in the separation of all studied plastics: polyethylene terephthalate (PET), polyethylene (PE), polypropylene (PP), polystyrene (PS) and polylactide (PLA). In addition, some more specific discriminations were obtained separating plastic materials belonging to the same polymer family e.g. high density polyethylene (HDPE) from low density polyethylene (LDPE). High discrimination rates were obtained despite the heterogeneity among samples especially differences in colors, thicknesses and surface textures. The reproducibility of the proposed approach was also tested using two spectrometers with considerable differences in their sensitivities. Discrimination rates were not affected proving that the developed approach could be extrapolated to different spectrometers. MIR combined with ICA is a promising tool for plastic waste separation that can help improve performance in this field; however further technological improvements and developments are required before it can be applied at an industrial level given that all tests presented here were performed under laboratory conditions.     

Evaluating ultrasonography as a non-lethal method for the assessment of maturity in oviparous elasmobranchs

Due to the impacts of commercial fishing on elasmobranchs, future research and management necessitates reliable and accurate information on life history. For females, maturity assessment is limited to dissection, and it is not desirable to be removing large numbers in order to assess the reproductive characteristics of a population. The present study evaluated ultrasonography as a potential, non-lethal method for assessing the maturity status of two oviparous elasmobranchs, the thornback ray (Raja clavata) and small-spotted catshark (Scyliorhinus canicula). Ultrasound permitted visualisation and measurement of the ovary in R. clavata, and the shell gland, ovarian follicles and egg capsules within the oviducts for S. canicula. With the exception of the ovary in R. clavata, the dimensions of these structures on the sonograms were directly corroborated by in situ measurements, and ultrasound was verified as an accurate and reliable method of making quantitative and qualitative assessments of these internal reproductive structures.