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.
Abstract
The research stems from the problem that focuses on a number of questions. They are as follows: What is the extent of interest in the topic of efficiency by the banks and their role in raising the efficiency of the banking business and its development? Is the banking efficiency used in Iraqi banks clear and specific for the Iraqi banking sector? How the banking sector efficiency is measured and what are the approaches adopted in determining the banking inputs and outputs? What is the level of efficiency in the research sample of the banks and what are the causes of its decline or rise in private banks individually and in the Iraqi banking sector in general?
The re
... Show MoreThe Knowledge Workers is The Largest And Most Powerful Resource Of The Organizational Excellence it is A Precious Treasure, Therefore Find Organizations at present is looking for them and seek to invest their ideas For achieving excellence, creativity and access to the excellence Organizational , As a result of their importance in terms of engagement and influence in the success or failure of the as an organizational Of The Research is Measuring The Correlation And Impact Between Knowledge Workers And Organizational Excellence in Sample Of Companies Iraqi Industrial By Standing The Dimensions Of Knowledge Workers ( Characteristics , Skills , Roles , Competencies ) And
... Show MoreAbstract :
The research aims to study the basic concepts of banking productivity and discuss different approaches to study what ends to identify the most important possible standards applied to measured within the Iraqi banking environment as well as research into the causes of low and high Iraqi banking productivity and identify possible treatments to curb those reasons as to ensure the rise. And in line with the research problem, which states what is the level of productivity and what are the causes of decline and the rise in private banking research sample individually. And what the Iraqi private banks and what is the relationship between performance and the impact of productivity change in the perform
... Show MoreNanoparticles of humic acid and iron oxide were impregnated on the inert sand to produce sorbent for treating groundwater contained of cadmium and copper ions by technology of permeable reactive barrier (PRB). Sewage sludge was the source of the humic acid to prepare the coated sand by humic acid—iron oxide (CSHAIO) sorbent; so, this work is consistent with sustainable development. For 10 mg/L metal concentration, batch tests at speed of 200 rpm signified that the removal efficiencies are greater than 90% at sorbent dosage 0.25 g/ 50 mL, pH 6 and contact time 1 h. The kinetic data was well described by the Pseudo first-order model indicating that physicosorption is the predominant mechanism. The maximum adsorption capacities (qmax) were c
... Show MoreIn this investigation , borax (B) (additive I) and chlorinated paraffin (CP.) (additive II) ,were used as flame retardants for each of epoxy and unsaturated polyester resins in the weight ratios of 2,4,6, & 8% by preparing films of (130×130×3) mm dimensions. Also films of these resins with a mixture of [50%(B.)+50%(CP.)] (additive III) in the same weight ratios were prepared in order to study the synergistic effect of these additives on the flammability of the two resins . Three standard test methods were used to measure the flame retardation which are : 1-ASTM : D-2863 2-ASTM : D-635 3-ASTM : D-3014
... Show MoreManipulation is a discursive concept which plays a key role in political discourse by which politicians can impose some impact on their recipients through using linguistic features, most prominent of which are personal pronouns (Van Dijk, 1995). The aim of this study is to investigate how politicians utilize the personal pronouns, namely; We and I and their possessive forms as a tool of manipulating the audience's mind based on Van Dijk's "ideological square" which shows positive-self representation and negative-other representation (Van Dijk,1998:p.69). To this end, American President Donald Trump's 2020 State of the Union speech was chosen to be the data of analysis. Only (8)
... Show MoreCybercrime and risks to children between the problems and solutions( An analytical study in the light of international, Arab and national statistics).
Lies the problem of the study to identify a new type of crime is different from the same traditional character of the crimes or what was customary since human creation up to the information revolution and we enter the era of globalization, which is also called (cyber crime) and their negative impact on all segments of society, especially children, as they the day of the most important social security threats, for all local and international communities alike , and those risks require collective action to various sectors and segments of society ,especially the educated classes in order t
Background: Insulin resistance (IR) is the primary metabolic disorder associated with obesity. Obesity is a growing worldwide health problem affecting both adults and children. Objectives: To determine the association between leptin and IR, and to identify the ratio of fasting glucose/leptin (G/L) and insulin/leptin (I/L) as a new simple method for the detection of IR in obese children.Methods: This study was done in the National DiabeticCenter/ AL-Mustansiriya University during the period fromMay 2013 until the end of October 2013. Fasting bloodglucose (FBG), serum insulin, leptin, and lipid profile weremeasured in 52 obese children (24 children with IR and 28without IR); their age range was (5-15) years, they werecompared with 38 healt
... Show MoreThe current research aims at studying the precise and big movement skills and the ability
of the diabetic child to do them, The research sample consisted of ten diabetic children who
go to the Diabetes Center of Research that is apart of the Yarmook hospital. The sample was
chosen according to the intentional method and it wasn’t possible to have bigger sample
because the parents of the children didn’t agree for fear on the children’s health. It was
apparent through the research that the diabetic child performs the big movement skills better
than his ability to do the precise movement skills because they require accuracy,
concentration and high attention.
The most prominent recommendations and suggestions.
This cross-sectional, questionnaire-based study evaluated the knowledge, attitude and practice towards breast cancer and breast self-examination [BSE] among 387 [302 females and 85 males] educated Iraqis affiliated to 2 Iraqi universities. The participants were categorized into 3 occupations: student [71.3%], teaching staff [10.3%] and administrative staff [18.3%]. About half of the participants had a low knowledge score [< 50%]; only 14.3% were graded as [Good] and above. Almost 75% of the participants believed that the best way to control breast cancer was through early detection and other possible preventive measures. Most participants [90.9%] had heard of BSE, the main source of informatio
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