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.
Orthogonal Frequency Division Multiplexing (OFDM) is one of recent years multicarrier modulation used in order to combat the Inter Symbol Interference (ISI) introduced by frequency selective mobile radio channel. The circular extension of the data symbol, commonly referred to as cyclic prefix is one of the key elements in an OFDM transmission scheme. This paper study The influence of the cyclic prefix duration on the BER performance of an OFDM-VCPL (Orthogonal frequency division multiplexing - Variable Cyclic Prefix Length) system and the conventional OFDM system with frame 64-QAM modulation is evaluated by means of computer simulation in a multipath fading channel. The adaptation of CP is done with respect to the delay spread estimation
... Show MoreData Driven Requirement Engineering (DDRE) represents a vision for a shift from the static traditional methods of doing requirements engineering to dynamic data-driven user-centered methods. Data available and the increasingly complex requirements of system software whose functions can adapt to changing needs to gain the trust of its users, an approach is needed in a continuous software engineering process. This need drives the emergence of new challenges in the discipline of requirements engineering to meet the required changes. The problem in this study was the method in data discrepancies which resulted in the needs elicitation process being hampered and in the end software development found discrepancies and could not meet the need
... Show MoreThe zeolite's textural properties have a significant effect on zeolite's effectiveness in the different industrial processes. This research aimed to study the textual properties of the NaX and FeX zeolites using the nitrogen adsorption-desorption technique at a constant low temperature. According to the International Union of Pure and Applied Chemistry, the adsorption-desorption isotherm showed that the studied materials were mixed kinds I/II isotherms and H3 type hysteresis. The Brunauer-Emmett-Teller isotherm was the best model to describe the nitrogen adsorption-desorption better than the Langmuir and Freundlich isotherms. The obtained adsorption capacity and Brunauer-Emmett-Teller surface area values for NaX were greater than FeX. Ac
... Show MoreObjectives: The study aims to (1) Assess the parents' efficacy for child healthy weight behavior. (2) Identify the difference in parents’ efficacy for child healthy weight behavior between the groups of parent’s gender, family’s socioeconomic status, child’s gender, and child’s birth order, (3) Find out the relationship between parents’ age, child’s age, child’s body mass index, family’s socioeconomic status, the number of children in the family and parents’ efficacy for child healthy weight behavior.
Methodology: A descriptive correlational study is conducted for the period from November 11th, 2018 to March 25th, 2019 to assess the parents' efficacy for child healthy weight behavior. The study was carried-out in (
Abstract A descriptive study was carried out on nurses who were working at burn. Units in Baghdad city hospitals, Al-Kindy , Al-Yarmook, Al-Qadisiya, Al-karkh, and Al-Karama hospital, in the period from 20th july 2003 to 20th November 2003. The study aimed to identify the nurses performance about pain management for burned patients at burn units and find out the relationship between the demographic characteristics and performance . A purposive (non-probability) sample of (40) nurses, (24) male nurses and (16) female. The data were collected through the use of observational checklist, which comprised (
This paper interest to estimation the unknown parameters for generalized Rayleigh distribution model based on censored samples of singly type one . In this paper the probability density function for generalized Rayleigh is defined with its properties . The maximum likelihood estimator method is used to derive the point estimation for all unknown parameters based on iterative method , as Newton – Raphson method , then derive confidence interval estimation which based on Fisher information matrix . Finally , testing whether the current model ( GRD ) fits to a set of real data , then compute the survival function and hazard function for this real data.
This paper deals with load-deflection behavior the jointed plain concrete pavement system using steel dowel bars as a mechanism to transmit load across the expansion joints. Experimentally, four models of the jointed plain concrete pavement system were made, each model consists of two slabs of plain concrete that connected together across expansion by two dowel bars and the concrete slab were supported by the subgrade soil. Two variables were dealt with, the first is diameter of dowel bar (12, 16 and 20 mm) and the second is type of the subgrade soil, two types of soil were used which classified according to the (AASHTO): Type I (A-6) and type II (A-7-6). Experimental results showed that increasing dowel bar diameter from 12 mm to 20 mm
... Show MoreAbstract: E2F6 is a member of the E2F family of transcription factors involved in regulation of a wide variety of genes through both activation and repression. E2F6 has been reported as overexpressed in breast cancers but whether or not this is important for tumor development is unclear. We first checked E2F6 expression in tumor cDNAs and the protein level in a range of breast cancer cell lines. RNA interference-mediated depletion was then used to assess the importance of E2F6 expression in cell lines with regard to cell cycle profile using fluorescence-activated cell sorting and a cell survival assay using (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT). The overexpression of E2F6 was confirmed in breast tumor cDNA samp
... Show MorePermanent deformation in asphalt concrete pavements is pervasive distress [1], influenced by various factors such as environmental conditions, traffic loading, and mixture properties. A meticulous investigation into these factors has been conducted, yielding a robust dataset from uniaxial repeated load tests on 108 asphalt concrete samples. Each sample underwent systematic evaluation under varied test temperatures, loading conditions, and mixture properties, ensuring the data’s comprehensiveness and reliability. The materials used, sourced locally, were selected to enhance the study ʼs relevance to pavement constructions in hot climate areas, considering different asphalt cement grades and con- tents to understand material variability ef
... Show MoreThe interest in art for young ages is seen as an obvious breakthrough and as revealing of psychological and health feelings in addition to emotions, and it is a treatment for those who suffer from behavioral disorders. The problem arose with the following question: What is the role of artistic expression in diagnosing behavioral disorders for primary school pupils? The aim of the research is to detect the behavioral disorders in the artistic expression of the female students' paintings from the teachers' point of view. The descriptive analytical approach was adopted as it is the appropriate method for identifying and estimating the characteristics and features related to people, places and things, and analyzing situations or phenomena as a
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