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Design and optimization of a radial turbine for a Rankine cycle were accomplished ensuring higher thermal efficiency of the system despite the low turbine inlet temperature. A turbine design code (TDC) based on the meanline design methodology was developed to construct the base design of the turbine rotor. Best design practices for the base design were discussed and adopted to initiate a robust optimization procedure. The baseline design was optimized using the response surface methodology and by coupling it with the genetic algorithm. The design variables considered for the study are rotational speed, total to static speed ratio, hub radius ratio, shroud radius ration, and number of blades. Various designs of the turbine were constructed based on the Central Composite Design (CCD) while performance variables were computed using the in-house turbine design code (TDC) in the MATLAB environment. The TDC can access the properties of the working fluid through a subroutine that links NIST’s REFPROP to the design code through a subroutine. The finalization of the geometry was made through an iterative process between 3D-Reynolds-Averaged Navier-Stokes (RANS) simulations and the one-dimensional optimization procedure. 3D RANS simulations were also conducted to analyze the optimized geometry of the turbine rotor for off-design conditions. For computational fluid dynamics (CFD) simulation, a commercial code ANSYS-CFX was employed. 3D geometry was constructed using ASYS Bladegen while structured mesh was generated using ANSYS Turbogrid. Fluid properties were supplied to the CFD solver through a real gas property (RGP) file that was constructed in MATLAB by linking it to REFPROP. Computed results show that an initial good design can reduce the time and computational efforts necessary to reach an optimal design successfully. Furthermore, it can be inferred from the CFD calculation that Response Surface Methodology (RSM) employing CFD as a model evaluation tool can be highly effective for the design and optimization of turbomachinery.

Background: Chromosomal aneuploidy, characterized by an abnormal number of chromosomes, represents a significant cause of genetic disorders. While karyotyping and chromosomal microarray analysis (CMA) are established diagnostic approaches, they are limited by cost and extended turnaround times. Advances in exome sequencing (ES) bioinformatics enable detection of chromosomal aneuploidy alongside single-nucleotide variant analysis. This study explores the utility of clinical ES for the detection of aneuploidies. Method: We analyzed exome sequencing data (2023–2024) from samples positive for Trisomy 21 (n = 27), Trisomy 18 (n = 4), Turner syndrome (n = 3), and Klinefelter syndrome (n = 2) from our clinical ES cohort (n = 10,000). Results: The results obtained were concordant with copy number variants (CNVs) identified by clinical testing. Conclusion: In conclusion, our findings suggest that exome sequencing offers a rapid and viable approach for the detection of chromosomal aneuploidy, potentially reducing turnaround time and associated costs.

The rising environmental problems due to fossil fuels’ consumption have pushed researchers and technologists to develop sustainable power systems. Due to properties such as abundance and nontoxicity of the working fluid, the supercritical carbon (sCO2) dioxide Brayton cycle is considered one of the most promising technologies among the various sustainable power systems. In the current study, a mathematical model has been developed and coded in Matlab for the recompression of the supercritical carbon dioxide Brayton cycle sCO2-BC. The real gas properties of supercritical carbon dioxide (sCO2) were incorporated into the program by pairing the NIST’s Refporp with Matlab© through a subroutine. The impacts of the various designs of the cycle’s individual components have been investigated on the performance of sCO2−BC. The impact of various sedative cycle parameters, i.e., compressor’s inlet temperature (T1), and pressure (P1), cycle pressure ratio (Pr), and split mass fraction (x), on the cycle’s performance (ηcyc) were studied and highlighted. Moreover, an optimization study using the genetic algorithm was carried out to find the abovementioned cycle’s optimized values that maximize the cycle’s per-formance under provided design constraints and boundaries.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.

Purpose This paper aims to improve the housing affordability by measuring the housing affordability in a resource-rich economy and studying the impact of implementing new policies. Design/methodology/approach This paper seeks to test the impact of new policies introduced to the Kuwaiti housing market to improve affordability. In 2008, the Kuwaiti parliament introduced two policies: a tax on empty lands and, forbidding companies to own or develop residential lands or houses. Findings By constructing the housing affordability index and the price-to-income multiplier using observations from 2004 until 2017, it has been found that affordability has worsened over time regardless of the new policies introduced in 2008. Housing in Kuwait became “severely unaffordable” (equivalent to London in the UK, San Diego in USA and Toronto in Canada). Originality/value Even with its unique condition, as a rich country, small population and availability of white land and other resources, the affordability worsened over time. Introducing new policies without solving the central issue of housing supply challenges seems not worth it. This paper is the first of its kind on the Kuwait housing market, and it provides a valuable foundation for future research on this market and similar markets in the region.

Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.

Purpose The purpose of this paper is to examine the sensitivity of the Kuwait housing market to major local and regional geo-political and economic events. Design/methodology/approach This paper examines the market dynamics of the housing market in Kuwait. Kuwait provides an interesting market to consider owing to its position as a major oil producer, its sensitivity to geo-political events and its unusual demographic characteristics. Findings The error-correction model highlights that market is relatively volatile, with evidence of mean-reverting behaviour. Only when the data is smoothed are their more consistent findings with respect to underlying fundamentals. This paper also examines the response of the market to seven regional and local events. Of particular interest is that the one event that results in a consistent significant response is domestic legislation directly concerned with housing. This has a far greater impact than local or regional geo-political events. Originality/value Very few papers have considered how economic and political shocks directly impact housing markets using an event study approach. Given its geographic location and also its economic dependence on oil, Kuwait is an interesting market to consider.

Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.

Background: Haemolytic disease of the fetus and new-born (HDFN) is an intricate and potentially hazardous disorder that occurs when there is an incompatibility between the blood types of the mother and the infant. This haemolytic anemia has many symptoms like hyperbilirubinemia; thus, the RBCs transfusion and phototherapy are the main procedures made to control this anemia. Aim: The main aim of this study is to explore the rate of positive direct antibody testing (DAT) results in newborns and its association with hemolytic diseases and ABO/Rh incompatibility at KFMC in Riyadh. Methodology: A retrospective study was conducted in King Fahad Medical City in Riyadh Saudi Arabia. Medical records of new-born as subjects were utilized to gather information regarding their features by gathering data from 2021 to 2023. Clinical data was retrieved from the medical records and archives and a total of 6754 new-born recorded in KFMC, about 269 cases positive of DAT were suspected to have HDFN. The data gathered was examined using SPSS version 26.0. Results: Of a total of 6754 new-born recorded in KFMC from 2021 to 2023, about 269 cases were suspected to have HDFN. Most of cases’ antibodies (n=204) have ABO incompatibility when underwent LUI Freeze while only 24% (n=65) had Rh incompatibility when detected by acid elution. Most of cases have B antibodies (n=106) for ABO incompatibility, and Anti D was the highest detected antibody for Rh incompatibility (n=27, 10.1%). It has been found Most of the infants did not require ICU admission or transfusions While that hyperbilirubinemia was observed in approximately 44% of cases. Conclusion: Our study showed the prevalence of positive DAT to be almost 4% only amongst which most common cause was ABO incompatibility.