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.
In many video and image processing applications, the frames are partitioned into blocks, which are extracted and processed sequentially. In this paper, we propose a fast algorithm for calculation of features of overlapping image blocks. We assume the features are projections of the block on separable 2D basis functions (usually orthogonal polynomials) where we benefit from the symmetry with respect to spatial variables. The main idea is based on a construction of auxiliary matrices that virtually extends the original image and makes it possible to avoid a time-consuming computation in loops. These matrices can be pre-calculated, stored and used repeatedly since they are independent of the image itself. We validated experimentally th
... Show MoreA niger, a fungus which doesn't have high ability to production lipid, this fungus has been select to investigate the non oleaginicity. In this search, there are explorations about: i) growth profile ii) enzymes profile iii) isoforms. Growth profile shows that this fungus doesn't have ability to accumulate lipid more than 6% while bio mass are around 10g/l in spite of the presence of glucose in the media till the end of cultivation time and excision of nitrogen within 24 hrs. In enzyme study, we investigate all lipogenic enzymes Malic enzyme (ME), Fatty acid synthase (FAS), ATP: Citrate lays (ACL), NAD+ isocitrate dehydrogenase (NAD+ICDH), Glucose-6-phosphate (G6PD), and 6-phosphogluconate dehydrogenase (6PGD), all these enzymes show, ac
... Show MoreAs they are the smallest functional parts of the muscle, motor units (MUs) are considered as the basic building blocks of the neuromuscular system. Monitoring MU recruitment, de-recruitment, and firing rate (by either invasive or surface techniques) leads to the understanding of motor control strategies and of their pathological alterations. EMG signal decomposition is the process of identification and classification of individual motor unit action potentials (MUAPs) in the interference pattern detected with either intramuscular or surface electrodes. Signal processing techniques were used in EMG signal decomposition to understand fundamental and physiological issues. Many techniques have been developed to decompose intramuscularly detec
... Show MoreBackground: Acute cholecystitis is common surgical
problem, which was treated previously by conservative
treatment .Later early open has been introduced as an
alternative to interval for treatment of acute cholecystitis.
Early open was found to be a safe, successful with
comparable postoperative complication rate. With the
advent of laparoscopy laparoscopic have been used for
chronic cholecystitis and became the first line of
treatment. New reports have shown that laparoscopic can
be used as an alternative to open for surgical treatment of
acute cholecystitis.
Objectives: to compare the success, safety of early
laparoscopic versus early open as a primary treatment of
acute cholecystitis.
Methods:
In this research a new system identification algorithm is presented for obtaining an optimal set of mathematical models for system with perturbed coefficients, then this algorithm is applied practically by an “On Line System Identification Circuit”, based on real time speed response data of a permanent magnet DC motor. Such set of mathematical models represents the physical plant against all variation which may exist in its parameters, and forms a strong mathematical foundation for stability and performance analysis in control theory problems.
There has been increase in banks and financial institutions interest in governance topic, as it focused all it attention on this topic specially after the growing role and massive expansion of the private sector in economic life , this sector become vital and important and basic role in growth and developing countries economy that’s why there been increase interest in governance and its mechanism , using this mechanism ( board of directors mechanism , ownership concentration mechanism , financial compensation mechanism, minimum rate of capital mechanism) who would adjust and guide the path and orientation of banks and financial institutions as to ensure the achievement of their goals and mission of their desired within th
... Show MoreGivers of foreign Audit about Social Responsibility of Profit Organization. The recent time is charcterstically with big economic Organization activities, because there are many transactions between these Organizations and different financial markets development techniques.
This encourgage business men to increase their efforts for investment in these markets. Because the Accounting is in general terms it represents a language of these Unions Activities and translate them in to fact numbers, for that there is need for Accounting recording for certain of these Organizations behavior and their harmonization with their Objectives.
In this respect the Audit function comes to che
... Show MoreNd:YAG laser pulses of 9 nanosecond pulse duration and operating wavelength at 1.06 μm, were utilized to drill high thermal conductivity and high reflectivity aluminum and copper foils. The results showed a dependence of drilled holes characteristics on laser power density and the number of laser pulses used. Drilled depth of 74 ϻm was obtained in aluminum at 11.036×108 W/cm2 of laser power density. Due to its higher melting point, copper required higher laser power density and/or larger number of laser pulses to melt, and a maximum depth of 25 μm was reached at 13.46×108 W/cm2 using single laser pulse.