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.
Graphene oxide GO was functionalized with 4-amino, 3-substituted 1H, 1, 2, 4 Triazole 5(4H) thion (ASTT) to obtain GOT. GOT characterized by FT-IR, XRD.via modification of the working electrode of the SPCE with the prepared nanomaterial (GOT) the effect of scan rate and pH on the determination of Amoxilline (AMOX) was studied using cyclic voltammetry. AMOX show various responses at pH ranging from 2 to 7 and also was observed sharp increase in the oxidation peaks in the pH 3. The formal potential (midpoint) for AMOX was highly pH-dependent. From the effect of scan rate, surface coverage concentration Γ of electroactive species the values of the electron transfer coefficient and the electron transfer constant rate ket was obtained as 5.39×
... Show MoreBackground: Ulcerative colitis disease is a chronic inflammatory condition that affects the gastrointestinal tract. In regulation of this inflammatory process, Interleukin-6, C-reactive proteins and albumin have a major role. Overproduction of IL-6 by immunocompetent cells contributes to activate the liver to produce CRP, transudation of plasma albumin and development of the inflammatory condition. Elevated levels of IL-6 in saliva could be expected, because the saliva-producing cells are part of the digestive system. The purpose of this study was to assess salivary IL-6, CRP and albumin in ulcerative colitis patients in relation to oral findings. Materials and methods: Forty eight saliva specimens collected from three groups of subjects (s
... Show MoreThe liability limit liability limit and reinsurance re factors insurance are important in influencing the achievement of company's competitive goals and achieve success and excellence in the market and because the limit of liability and reinsurance aimed to increase output with the stability of inputs leading to increased insurance business and increase profits. The study was based on two variables presidents interact with each other to form the intellectual and philosophical framework has two ( the limit of liability and reinsurance ) . The study was launched from a problem expressed by a number of targeted questions answered from the elucidation of theoretical philosophy and intellectual goals of these variables and highlight the impor
... Show MoreObjective: This in vitro study is aimed to compare and evaluate the cyclic fatigue of four varying NiTi rotary instrumentation systems. Method: In this study, four types of rotary files were used in four groups (10 files for each group), namely, Group A: Wave One Gold; Group B: AF Blue R3; Group C: One Curve; Group D: F6 SkyTaper. These groups were evaluated by a cyclic fatigue apparatus to measure cyclic fatigue resistance within the artificial metallic simulating canal that has a 60 angle of curvature, the curvature radius was 5 mm, whereas the inner diameter of the canal was 1.5 mm. All the files were rotated in artificial canals until they fracture. The resistance to cyclic fatigue was determined by counting the number of cycles to frac
... Show MoreAbortion is a condition that occurs due to one of the pathological injuries, often one of the members of the TORCH is the real cause. The current study aimed to investigate the impact of toxoplasmosis, HSV-2 infections with abortion, and also, the identification of immunogenetics marker (interleukin-10) that may be associated with abortion. Anti-Toxoplasma IgG, IgM, Herpes simplex virus-2 IgM, human soluble leukocyte antigen class I–G and interleukin10 were estimated by ELISA technique, while the expression of IL-10 gene was investigated by using the real-time PCR. The results showed that among aborted women the rate of anti-Toxoplasma and HSV-2 IgM antibodies occurred within the age groups (21–30) years and (31–40) years 32(100.0%) a
... Show MoreA new ligand N-((4-(phenylamino) phenyl) carbamothioyl) acetamide (PCA) was synthesized by reaction of (4-amino di phenyl amine) with (acetyl isothiocyante) by using acetone as a solvent. The prepared ligand(PCA) has been characterization by elemental analysis (CHNS), infrared(FT-IR),electronic spectral (UV-Vis)&1H,13C- NMR spectra. Some Divalent Metal ion complexes of ligand (PCA) were prepared and spectroscopic studies by infrared(FT-IR), electronic spectral (UV-Vis), molar conductance, magnetic susceptibility and atomic absorption. The results measured showed the formula ofFall prepared complexes were [M (PCA)2 Cl2] (M+2 = Mn, Co, Ni, CU, Zn, Cd &Hg),the proposed geometrical structure for all complexes wereeoctahedral.
The present study aimed to investigate the possible production of Thioflavin T and the effect of NaCl concentrations and growth phases on the growth rate, doubling time and proline of C. saipanensis N. Hanagata (Scenedesmaceae, Shaerophleales). The alga was cultured in BG 11 medium and six NaCl concentrations were used in the experiments during different growth phases. The results have unveiled the presence of Triflavin T in the alga. The study results showed a growth rate decrease at all NaCl concentrations except in control treatment, while the doubling time, was recorded highest value (14 days) at the NaCl concentration of 0.08 M. The highest value of Proline (0.509 mg. Lˉ¹) was recorded at the treatment of 0.08 M of NaCl and recorded
... Show MoreYohimbine is actually confirmed in the United States to be utilized for erectile dysfunction; and recently such drug has become commonly used in body-building communities for its presumed lipolytic and sympathomimetic effects. But ingestion of such drug can bring about epileptic neurotoxic effects.
Many antiepileptic drugs can be utilized to counteract myoclonic seizure; furthermore, diazepam can be used to oppose such type of seizure; in addition, surrogate therapeutic options such as omega 3 may also be utilized.
In this study, twenty-four (24) mice of both sexes weighing 20-25g were randomly-allocated into 4 groups (6 animals each group) as follows: Group I-
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