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 monthly time series of the Total Suspended Solids (TSS) concentrations in Euphrates River at Nasria was analyzed as a time series. The data used for the analysis was the monthly series during (1977-2000).
The series was tested for nonhomogenity and found to be nonhomogeneous. A significant positive jump was observed after 1988. This nonhomogenity was removed using a method suggested by Yevichevich (7). The homogeneous series was then normalized using Box and Cox (2) transformation. The periodic component of the series was fitted using harmonic analyses, and removed from the series to obtain the dependent stochastic component. This component was then modeled using first order autoregressive model (Markovian chain). The above a
... Show MoreSixty albino female mice were used in this experiment to study the possible effect of the crude alcoholic extract of the celery leaves on their fertility. These animals were randomly and equally divided into three experimental groups (20 females/group). The first and second groups were orally given a daily dose of 500 and 1000 mg/kg body weight, respectively, of the crude alcoholic extract, while the third group (control) was similarly treated, at the same time, with 0.1 ml/gm body weight of physiological saline for comparison. The treatment, however, lasted for 25 consecutive days. On day 26, after treatment was stopped, the life body weight of all animals was recorded before sacrificing the animals. Thereafter blood
... Show MoreThe purpose of this work is to study the classification and construction of (k,3)-arcs in the projective plane PG(2,7). We found that there are two (5,3)-arcs, four (6,3)-arcs, six (7,3)arcs, six (8,3)-arcs, seven (9,3)-arcs, six (10,3)-arcs and six (11,3)-arcs. All of these arcs are incomplete. The number of distinct (12,3)-arcs are six, two of them are complete. There are four distinct (13,3)-arcs, two of them are complete and one (14,3)-arc which is incomplete. There exists one complete (15,3)-arc.
In this study, the effect of fire flame on the punching shear strength of steel fiber reinforced concrete flat plates was experimentally investigated using nine half-scale specimens with dimensions of 1500×1500 mm and a total thickness of 100 mm. The main investigated variables comprised the steel fiber volume fraction 0, 1, and 1.5% and the burning steady state temperature 500 and 600 °C. The specimens were divided into three groups, each group consists of three specimens. The specimens in the first group were tested with no fire effect to be the reference specimens, while the others of the second and third groups were tested after being exposed to fire-flame effect. The adopted characteristics of the fire test were; (one hour) b
... Show MoreNewly acid hydrazide was synthesized from ethyl 2-(2,3-dimethoxyphenoxy) acetate (2), which is cyclized to the corresponding 4-amino-1,2,4-triazole (3). Five newly azo derivatives (4a-e) were synthesized from this 1,2,4-triazole by converting the amine group to diazonium salt then reacted with various substituent phenol,as well three newly imine derivatives (5a-c) were synthesized from reacting the amine group of compound (3) with three aryl aldehyde. The thermal electro conductivity of these compounds was tested at 30, 50, 75 and 100 áµ’C. compound 4a showed interesting electro conductivity at 75áµ’C as well 5a at 75áµ’C while 5b showed significant conductivity at 100 áµ’C
Reducing a structure’s self-weight is the main goal and a major challenge for most civil constructions, especially in tall buildings and earthquake-affected buildings. One of the most adopted techniques to reduce the self-weight of concrete structures is applying voids in certain positions through the structure, just like a voided slab or BubbleDeck slab. This research aims to study, experimentally and theoretically, the structural behavior of BubbleDeck reinforced concrete slabs under the effect of harmonic load. Tow-way BubbleDeck slab of 2500mm×2500m×200mm dimensions and uniformly distributed bubbles of 120mm diameter and 160mm spacing c/c was tested experimentally under the effect of harmonic load. Numerical analysis was als
... Show MoreIn his study, the researcher highlighted the most important methods of authorship in the fundamentals of jurisprudence and speech. Fundamentalist rules and extraction and access method; they also distinct from each other that each has special divisions of the subjects of jurisprudence.
This research is concerned with documenting traditional clothes of girls and children in Makkah in the past 100 years and is a step towards preserving our heritage which is exposed to rapid changes. The researcher’s goal is to contribute to the Saudi’s folklore studies with a qualitative study of clothes and ceremonies used in the past. Sources of information were collected from human and material samples, ceremonies, clothes, techniques used to embellish them and from previous studies. The study concludes that aspects of civilization influenced clothes and resulted in a great deal of change. Children wore scale-down versions of adult clothing. Costumes were rich by their styles and adornment. The researcher emphasizes the importance
... Show More