Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammatory conditions which suggest that cystinosis should be included within the differential diagnosis of disorders associated with increased plasma chitotriosidase activity. This study is aimed to estimate serum chitotriosidase level, as a screening marker and therapeutic monitor for cystinosis disease in Iraqi children with cystinosis.
Subjects and Methods: The present study is a case-control study that included samples of 30 children with nephropathic cystinosis, compared to 25 healthy control children from those attending at The Genetic Rare Diseases Center / AL-Emamain AL-Kadhimain Teaching Hospital, Baghdad-Iraq.
Results: Our results reported that cystinotic children had a marked elevation of serum chitotriosidase activity, compared to age-matched healthy children, besides a significant associated with leukocyte-cystine content for cystinotic patients.
CHT1 as a Novel Biomarker
Conclusion: Estimation of serum chitotriosidase activity might aid in monitoring the therapeutic benefits of cysteamine therapy, as well as the prognosis of the disease when WBC cystine assessment is not available.
Key Words: Cystinosis, Cysteamine, Chitotriosidase.
The development of information systems in recent years has contributed to various methods of gathering information to evaluate IS performance. The most common approach used to collect information is called the survey system. This method, however, suffers one major drawback. The decision makers consume considerable time to transform data from survey sheets to analytical programs. As such, this paper proposes a method called ‘survey algorithm based on R programming language’ or SABR, for data transformation from the survey sheets inside R environments by treating the arrangement of data as a relational format. R and Relational data format provide excellent opportunity to manage and analyse the accumulated data. Moreover, a survey syste
... Show MoreThe current study aimed to adopt a method for inducing callus cells and regenerating the important common red bean using different types of growth regulators such as N6-benzylaminopurine (BAP), Naphthalene acetic acid (NAA), and Thidiazuron (TDZ). Different types of common bean pinto cultivar explants, such as internodes, cotyledons and roots, were inoculated on Murashige and Skoog medium (MS) provided with different combinations of plant growth regulators, including 1- BAP (5 mg/l) 2-BAP (4.5 mg/l) NAA (0.5 mg/l), 3- BAP (4.5 mg/l), and TDZ (0.1mg/l). Callus was initiated on MS culture medium supplied with 5 mg/l BAP for all explants (internodes, cotyledons, and roots) at 50, 20, and 10% respectively, while adding NAA with 0.5mg/l showed
... Show MoreBased on the diazotization-coupling reaction, a new, simple, and sensitive spectrophotometric method for determining of a trace amount of (BPF) is presented in this paper. Diazotized metoclopramide reagent react with bisphenol F produces an orange azo-compound with a maximum absorbance at 461 nm in alkaline solution. The experimental parameters were optimized such as type of alkaline medium, concentration of NaOH, diazotized metoclopramide amount, order additions, reaction time, temperature, and effect of organic solvents to achieve the optimal performance for the proposed method. The absorbance increased linearly with increasing bisphenol F concentration in the range of 0.5-10 μg mL-1 under ideal conditions, with a correlati
... Show More'Steganography is the science of hiding information in the cover media', a force in the context of information sec, IJSR, Call for Papers, Online Journal
In our article, three iterative methods are performed to solve the nonlinear differential equations that represent the straight and radial fins affected by thermal conductivity. The iterative methods are the Daftardar-Jafari method namely (DJM), Temimi-Ansari method namely (TAM) and Banach contraction method namely (BCM) to get the approximate solutions. For comparison purposes, the numerical solutions were further achieved by using the fourth Runge-Kutta (RK4) method, Euler method and previous analytical methods that available in the literature. Moreover, the convergence of the proposed methods was discussed and proved. In addition, the maximum error remainder values are also evaluated which indicates that the propo
... Show MoreFlexible job-shop scheduling problem (FJSP) is one of the instances in flexible manufacturing systems. It is considered as a very complex to control. Hence generating a control system for this problem domain is difficult. FJSP inherits the job-shop scheduling problem characteristics. It has an additional decision level to the sequencing one which allows the operations to be processed on any machine among a set of available machines at a facility. In this article, we present Artificial Fish Swarm Algorithm with Harmony Search for solving the flexible job shop scheduling problem. It is based on the new harmony improvised from results obtained by artificial fish swarm algorithm. This improvised solution is sent to comparison to an overall best
... Show MoreThe evolution of the Internet of things (IoT) led to connect billions of heterogeneous physical devices together to improve the quality of human life by collecting data from their environment. However, there is a need to store huge data in big storage and high computational capabilities. Cloud computing can be used to store big data. The data of IoT devices is transferred using two types of protocols: Message Queuing Telemetry Transport (MQTT) and Hypertext Transfer Protocol (HTTP). This paper aims to make a high performance and more reliable system through efficient use of resources. Thus, load balancing in cloud computing is used to dynamically distribute the workload across nodes to avoid overloading any individual r
... Show MoreFuture generations of wireless communications systems are expected to evolve toward allowing massive ubiquitous connectivity and achieving ultra-reliable and low-latency communications (URLLC) with extremely high data rates. Massive multiple-input multiple-output (m-MIMO) is a crucial transmission technique to fulfill the demands of high data rates in the upcoming wireless systems. However, obtaining a downlink (DL) training sequence (TS) that is feasible for fast channel estimation, i.e., meeting the low-latency communications required by future generations of wireless systems, in m-MIMO with frequency-division-duplex (FDD) when users have different channel correlations is very challenging. Therefore, a low-complexity solution for
... Show More