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.
This research aims to identify the role of external environment factors on the quality of educational services, from the academic point of view, where the distribution of a questionnaire to a random sample of (100) university professors, and then analyzing a model, and test the validity of this model using structural modeling (SEM) (Structural Equation Modeling).
And then test the relationships between variables using the software of Statistical Package for Social Sciences (SPSS V.18), the research found a number of conclusions, the most important conclusion is: the external environment factors has significant impact on the quality of educational services.
This paper is dealing with an experimental study to show the influence of the geometric characteristics of the vortex generators VG son the thickness of the boundary layer (∂) and drag coefficients (CD) of the flat plate. Vortex generators work effectively on medium and high angles of attack, since they are "hidden" under the boundary layer and practically ineffective at low angles.
The height of VGs relative to the thickness of the boundary layer enables us to study the efficacy of VGs in delaying boundary layer separation. The distance between two VGs also has an effect on the boundary layer if we take into
... Show MoreTo perform a secure evaluation of Indoor Design data, the research introduces a Cyber-Neutrosophic Model, which utilizes AES-256 encryption, Role-Based Access Control, and real-time anomaly detection. It measures the percentage of unpredictability, insecurity, and variance present within model features. Also, it provides reliable data security. Similar features have been identified between the final results of the study, corresponding to the Cyber-Neutrosophic Model analysis, and the cybersecurity layer helped mitigate attacks. It is worth noting that Anomaly Detection successfully achieved response times of less than 2.5 seconds, demonstrating that the model can maintain its integrity while providing privacy. Using neutrosophic sim
... Show MoreAn accurate assessment of the pipes’ conditions is required for effective management of the trunk sewers. In this paper the semi-Markov model was developed and tested using the sewer dataset from the Zublin trunk sewer in Baghdad, Iraq, in order to evaluate the future performance of the sewer. For the development of this model the cumulative waiting time distribution of sewers was used in each condition that was derived directly from the sewer condition class and age data. Results showed that the semi-Markov model was inconsistent with the data by adopting ( 2 test) and also, showed that the error in prediction is due to lack of data on the sewer waiting times at each condition state which can be solved by using successive conditi
... Show MoreArab heritage have teem much of the literature value, written by evacuated, who had a legacy of linguistic great scientists, but the circumstances are unknown, did not write those books or authors emerge, chose to search for a book of those compositions, he did not write to him and his book emerge, fell hands a book (Altvsh in the language) to Abu Sufyan grammar, a fourth-century scientists, as it is Abu Sufyan grammar of scientists who rolled up the time their impact, and the cryptic revelations among the stars, preferring to stand on this book and its author, a statement of the most important grammatical aspects contained therein; to notch the curtain for this world, and his book (Altvsh in strewn language and Mnzawmha and express the
... Show MoreEmergency vehicle (EV) services save lives around the world. The necessary fast response of EVs requires minimising travel time. Preempting traffic signals can enable EVs to reach the desired location quickly. Most of the current research tries to decrease EV delays but neglects the resulting negative impacts of the preemption on other vehicles in the side roads. This paper proposes a dynamic preemption algorithm to control the traffic signal by adjusting some cycles to balance between the two critical goals: minimal delay for EVs with no stop, and a small additional delay to the vehicles on the side roads. This method is applicable to preempt traffic lights for EVs through an Intelli
The proton momentum distributions (PMD) and the elastic
electron scattering form factors F(q) of the ground state for some
even mass nuclei in the 2p-1f shell for 70Ge, 72Ge, 74Ge and 76Ge are
calculated by using the Coherent Density Fluctuation Model (CDFM)
and expressed in terms of the fluctuation function (weight function)
|F(x)|2. The fluctuation function has been related to the charge
density distribution (CDD) of the nuclei and determined from the
theory and experiment. The property of the long-tail behavior at high
momentum region of the proton momentum distribution has been
obtained by both the theoretical and experimental fluctuation
functions. The calculated form factors F (q) of all nuclei under s
A hand gesture recognition system provides a robust and innovative solution to nonverbal communication through human–computer interaction. Deep learning models have excellent potential for usage in recognition applications. To overcome related issues, most previous studies have proposed new model architectures or have fine-tuned pre-trained models. Furthermore, these studies relied on one standard dataset for both training and testing. Thus, the accuracy of these studies is reasonable. Unlike these works, the current study investigates two deep learning models with intermediate layers to recognize static hand gesture images. Both models were tested on different datasets, adjusted to suit the dataset, and then trained under different m
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