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 article deals with the role of metaphors in forming the plot of L. Ulitskaya’s family chronicle “Medea and Her Children”. The author of the article describes the results of the next stage of research related to the works of Lyudmila Evgenievna Ulitskaya, a representative of modern Russian prose. The analysis of tropes and figures in the works written at the turn of the XXth – XXIth centuries is of importance for the study of the modern state of Russian language as an independent system. “Medea and Her Children” is one of the works by L. Ulitskaya (written in 1996), which, like her other works, is characterized by a unique style of narration, rich in vocabulary, lexical, semantic and stylistic diversity of the author’s word
... Show MoreThe aim of this study was to determine the effect on using the McCarthy Model (4MAT) for developing creative writing skills and reflective thinking among undergraduate students. The quasi-experimental approach was adopted. And, in order to achieve the study objective, the educational content of Teaching Ethics (Approach 401), for the plan for the primary grades teacher preparation program was dealt with by using a teaching program based on the McCarthy Model (4MAT) was used.
The study which was done had been based on the academic achievement test for creative writing skills, and the reflective thinking test. The validity and reliability of the study tools were also confirmed. The study was applied to a sample consisting of
... Show MoreOur aim was to investigate the changes in the myocardium stiffness index for patients suffering from systemic hypertension, and to assess their left ventricular performance. We studied 263 hypertensive patients and 166 healthy subjects as a control group. By using conventional Doppler echocardiography, the following parameters were measured—Left ventricular end diastolic diameter, left ventricular end systolic diameter, transmitral early velocity, isovolumic relaxation time, and isovolumic contraction time. Tissue Doppler imaging (TDI) was used in the measurements of the early mitral annular velocity (Ea) and the diastolic stiffness was obtained by calculating the ratio E\Ea\LVIDd. Index myocardial performance (IMP) was calculated
... Show MoreThe present work deals with an experimental investigation of charging and discharging processes in thermal storage system using a phase change material PCM. Paraffin wax was used as the PCM which is formed in spherical capsules and packed in a cylindrical packed column which acted as an energy storage system. Air was used as the heat transfer fluid HTF in thermal storage unit. The effect of flow rate and inlet temperature of HTF on the time of charging and discharging process were studied. The results showed that the faster storage of thermal energy can be made by high flow rate of heat transfer fluid HTF and high inlet temperature of heat transfer fluid. It was found that at 65°C HTF inlet temperature, the melting and solidification pr
... Show MoreObjectives: The study aims to assess and evaluate the caregivers knowledge about management of the children with growth hormone deficiency and to find out the relationship between caregivers kowledge and caregivers age, gender, number of individual in house hold, Date of treatment started ,Caregivers level education and economic status Methodology: Quazi expermental study design was carried out at (Child's Central Teaching Hospital, Medical City of Al Imamian Al Khadhmain Teaching Hospital, and National Centre for Treatment and Research of Diabetes,Specialized Center for Endocrine Diseases and Diabetes, and Department of Medical City Children Welfare Teaching Hospital started from
... Show MorePolyaniline organic Semiconductor polymer was prepared by oxidation polymerization by adding hydrochloric acid concentration of 0.1M and potassium per sulfate concentration of 0.2M to 0.1M of aniline at room temperature, the polymer was deposited at glass substrate, the structural and optical properties were studies through UV-VIS, IR, XRD measurements, films have been operated as a sensor of vapor H2SO4 and HCl acids.
Importance of study :
The interesting of industrial sector and developing it after corner stone. It is important to build economic balanced and get behind and front linkage for transformative industrials, and this is important to get balanced.
The value of transformative industry sector is more important than other sectors in economy, and this is reflect the capital in industrial sector .Industry sector is larger than other sectors ,so it regards the motive which moving the economic wheel .
The problem :
The research treats reduction and retreat the ind
... Show MoreIt is found in the book "Ibn Aqeel: Alfiya Ibn Malek" that there are some linqustical aspected are related to the native tribal speakers like Tamim or Tie or some others. Sometimes in the book he said "some Arabian said without mentioning the name of the tribe.
As weel, he hasn’t mentioned the accent but he does mention the language. In the book, he has brought back the most important and the biqqest Arabian tribes suchas tribes of Hegaz, Tamim, Hatheyal, son of Anber, Tie, Rabia Bin Wael, Bani Katham, Au there, Bani AL Harth, Bani Kalb, Bani Hgim, Zabid, Hamedan, Alia Qais, Bani Ameer and many others. However, the most mentioned tribes were Hegaz and Tami.
Hence, the importance of the book expiain Ibn Aqeel by mentioning these A