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.
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Abstract
In this work, diabetic glucose concentration level control under disturbing meal has been controlled using two set of advanced controllers. The first set is sliding mode controllers (classical and integral) and the second set is represented by optimal LQR controllers (classical and Min-, ax). Due to their characteristic features of disturbance rejection, both integral sliding mode controller and LQR Minmax controller are dedicated here for comparison. The Bergman minimal mathematical model was used to represent the dynamic behavior of a diabetic patient’s blood glucose concentration to the insulin injection. Simulations based on Matlab/Simulink, were performed to verify the performance of each controll
... Show MoreBackground: Otitis media with effusion is a common and important pediatric clinical problem; it is the leading cause of hearing impairment in children. Medical treatment remains controversial. Aim: To evaluate the usefulness of using topical nasal steroids in the treatment of otitis media with effusion. Patients and Methods: Between November 2019 and October 2022, a prospective controlled clinical study was carried out in the department of otolaryngology at Al-Jerrahat Teaching Hospital in Medical City, Baghdad, Iraq. This study comprised 40 patients with bilateral otitis media with effusion (23 males, 17 females). Two groups were created for the patients. Patients in group A (20 patients) were treated with mometasone furoate nasal spra
... Show MoreObjective(s): To assess the burden of mothers` care for child with colostomy and find out relationships between child and mother socio-demographic data with mothers` burden. Methodology: a descriptive study was conducted from 1 August 2013 to 1 September 2014. The sample consisted of 100 children and their mothers at Baghdad Teaching hospital in Baghdad city. A questionnaire was prepared based on the previous literature review, meeting mothers of children with colostomy, and the Zarit Burden Interview scale. Data has collected through the application of questionnaire and interview techniques. Results: T
The study aimed to reveal the possibility of predicting academic procrastination through both Cognitive distortions and time management among students of Al-Aqsa Community College, as well as to reveal the level of both cognitive distortions, time management, and academic procrastination. Additionally, it aimed to identify the size of the correlation between cognitive distortions, time management, and academic procrastination. The study sample consisted of (250) students from Al-Aqsa community college students. The results of the study concluded that the mean for each level of cognitive distortions and academic procrastination is average. The mean level of time management is high. There is a statistically significant positive relationshi
... Show MoreThe research aims to identify the extent to which Iraqi private banks practice profit management motivated by reducing the taxable base by increasing the provision for loan losses by relying on the LLP it model, which consists of a main independent variable (net profit before tax) and independent sub-variables (bank size, total debts to total equity, loans granted to total obligations) under the name of the variables governing the banking business. (Colmgrove-Smirnov) was used to test the normal distribution of data for all banks during the period 2017-2020, and then find the correlation between the main independent variable sub and the dependent variable by means of the correlation coefficient person, and then using the multiple
... Show MoreAbstract: As human history is implicated in landscape or the natural history, it can be stated that the origins of the Caribbean writers' conflict, in general, are the colonial history of West India. That history which tells the story behind not only their fragmented identity, but also the problems connected to their language as well. Building on the arguments of the prominent Postcolonial ecoccritics such as Elizabeth DeLoughrey, George Handley, Helen Tiffin, and Graham Huggan, this research analyzes selected poems by Derek Walcott's which are bounded in his volume, Collected Poems. It shows how the Caribbean history has been erased due to the brutality of colonization offering landscape as a reliable source which has recorded that history
... Show MoreThe research aimed to identify the extent to which the media offices in the ministries depend on the website of the Iraqi Council of Ministers as a source of information. Such goal includes a set of sub-goals: Knowing the reasons for media offices' reliance on the information provided by the Cabinet's website; and revealing the benefit derived from relying on the Cabinet's website.
The researcher used the survey method to screen and comprehend the extent to which the media offices in the ministries depend on the website of the Iraqi Council of Ministers as a source of information.
The mechanism of comprehensive account of the limits of research wa
... Show MoreThe study targets exploring the similarities and differences between Iraqi and Malaysian learners of English in refusing marriage proposals. Also, it examines the favored politeness strategies that learners use to protect their interlocutors’ face, heeding both their social distance and status. Data were gathered by a Discourse Completion Task (DCT) which contained six marriage situations. Responses were analyzed based on Beebe et al.’s (1990) refusal taxonomy and Scollon et al.’s (2012) politeness system. The findings indicated that both the Iraqi and Malaysian learners preferred the indirect refusal strategies in marriage proposals, as well as the hierarchical politeness in the form of independence strategies regardless of t
... Show MoreThe study targets exploring the similarities and differences between Iraqi and Malaysian learners of English in refusing marriage proposals. Also, it examines the favored politeness strategies that learners use to protect their interlocutors’ face, heeding both their social distance and status. Data were gathered by a Discourse Completion Task (DCT) which contained six marriage situations. Responses were analyzed based on Beebe et al.’s (1990) refusal taxonomy and Scollon et al.’s (2012) politeness system. The findings indicated that both the Iraqi and Malaysian learners preferred the indirect refusal strategies in marriage proposals, as well as the hierarchical politeness in the form of independence strategies regardless of t
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