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 evolution in the field of Artificial Intelligent (AI) with its training algorithms make AI very important in different aspect of the life. The prediction problem of behavior of dynamical control system is one of the most important issue that the AI can be employed to solve it. In this paper, a Convolutional Multi-Spike Neural Network (CMSNN) is proposed as smart system to predict the response of nonlinear dynamical systems. The proposed structure mixed the advantages of Convolutional Neural Network (CNN) with Multi -Spike Neural Network (MSNN) to generate the smart structure. The CMSNN has the capability of training weights based on a proposed training algorithm. The simulation results demonstrated that the proposed
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... Show MoreBackground: Drug resistant epilepsy is defined as failure of adequate trials of two tolerated, appropriately chosen and used antiepileptic drug schedules to achieve sustained seizure freedom. Up to 30% of patients referred to clinics with a diagnosis of pharmaco-resistant epilepsy may have been misdiagnosed, and many can be helped by optimizing their treatment.Pseudoresistance, in which seizures persist because the underlying disorder has not been adequately or appropriately treated, must be ruled out or corrected before drug treatment can be considered to have failed.
Objectives: The objectives of this study were to determine the causes of drug failure in patients with epilepsy and to differenti
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Emotions management is to achieve emotional balance by controlling the emotions continuously, self disciplining, keeping away from excitement sources, and dealing with bad situations in constructive way to achieve the psychological stability .
- the study aims
This study is concerned with shedding light on the grammatical method of Ibn Hisham Al-Ansari (761 AH), in his explanation of Bant Souad’s poem by the poet Kaab bin Zuhair, and I included a brief description of Ibn Hisham’s life with a number of explanations of this poem, then clarified the most important features of this method The grammar represented by his reliance on hearing and presenting it to analogy with mention of types of analogy, as well as his attribution of opinions to their owners with weighting, selection and balancing, and his attention to reasoning and a number of grammatical ailments, and his approach is also distinguished by following the method of fractal.
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The current research aims to focus on strategic vigilance dimensions and contained (environmental vigilance, technological vigilance, competitive vigilance, vigilance marketing) to improve nursing services, which include a) the quality, timeliness, problem-solving and decision-making, relationships with others, leadership skills) and measure the degree link and influence between strategic vigilance in the hospital respondent and improve nursing service that the problem of the research lies in the weakness of strategic plans and health organizations in general and the hospital surveyed (martyr Ghazi al-Hariri), in particular, the lack of awareness of the hospital researched strategy vigilant management to improve nursing services,
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