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.
An anal fissure which does not heal with conservative measures as sits baths and laxatives is a chronic anal fissure. Physiologically, it is the high resting tone of the internal anal sphincter that chiefly interferes with the healing process of these fissures. Until now, the gold standard treatment modality is surgery, either digital anal dilatation or lateral sphincterotomy. However, concerns have been raised about the incidence of faecal incontinence after surgery. Therefore, pharmacological means to treat chronic anal fissures have been explored.A Medline and pub med database search from 1986-2012 was conducted to perform a literature search for articles relating to the non-surgical treatment of chronic anal fissure.Pharmacological s
... Show MoreConventional dosage forms for topical and transdermal drug delivery have several disadvantages related mainly to its poor skin permeation and patient compliance. Many approaches have been developed to improve these dosage forms. Film forming drug delivery systems represents a recent advancement in this field. It provides improved patient compliance with enhanced skin permeation of drugs. In its simplest form, these consist of a polymeric solution, usually in a supersaturated state, in a suitable solvent. A plasticizer is usually added to improve the flexibility and enhance the tensile strength to the film. It is also possible to control and sustain the drug release from the films by controlling the polymeric content, concentration o
... Show MoreZainab M. Al-Bahrani Department of Oral Diagnosis, College of Dentistry, University of Baghdad, Baghdad, Iraq.Corresponding author: Zainab M. Al-Bahra...
Speech is the essential way to interact between humans or between human and machine. However, it is always contaminated with different types of environment noise. Therefore, speech enhancement algorithms (SEA) have appeared as a significant approach in speech processing filed to suppress background noise and return back the original speech signal. In this paper, a new efficient two-stage SEA with low distortion is proposed based on minimum mean square error sense. The estimation of clean signal is performed by taking the advantages of Laplacian speech and noise modeling based on orthogonal transform (Discrete Krawtchouk-Tchebichef transform) coefficients distribution. The Discrete Kra
Worldwide, enormous amounts of waste cause major environmental issues, including scrap tires and plastic, and large waste, a consequence of the demolition of buildings, including crushed concrete, crushed clay bricks, and crushed thermo-stone. From that point, it’s possible to consider that the recycling processes for these materials and using them in the manufacturing field will reduce the adverse effects on the environment of these wastes and the consumption of natural resources. Sustainable concrete blocks can be considered as one of the products produced by using these materials as partial volume replacement of the coarse, fine aggregate, or cement content, considering their dry density, workability, absorption, co
... Show MoreMost of the Internet of Things (IoT), cell phones, and Radio Frequency Identification (RFID) applications need high speed in the execution and processing of data. this is done by reducing, system energy consumption, latency, throughput, and processing time. Thus, it will affect against security of such devices and may be attacked by malicious programs. Lightweight cryptographic algorithms are one of the most ideal methods Securing these IoT applications. Cryptography obfuscates and removes the ability to capture all key information patterns ensures that all data transfers occur Safe, accurate, verified, legal and undeniable. Fortunately, various lightweight encryption algorithms could be used to increase defense against various at
... Show MorePurpose: The current research attempts to diagnosis the reflection level of Information Technology (IT) Capabilities (Architectural, infrastructure, human resources, relationships resources, and dynamic capabilities) at Baghdad soft drinks Company/Al- Zafaraniya to achieving the competitive superiority represented by indicators (Cost, quality, flexibility, delivery and innovation). Recognizing the importance of the subjects studied, and because of the importance of the expected results of the field under consideration.
Design/Methodology/Approach: The experimental method has been used, the questionnaire used to collect th
... Show MoreSurvival analysis is one of the types of data analysis that describes the time period until the occurrence of an event of interest such as death or other events of importance in determining what will happen to the phenomenon studied. There may be more than one endpoint for the event, in which case it is called Competing risks. The purpose of this research is to apply the dynamic approach in the analysis of discrete survival time in order to estimate the effect of covariates over time, as well as modeling the nonlinear relationship between the covariates and the discrete hazard function through the use of the multinomial logistic model and the multivariate Cox model. For the purpose of conducting the estimation process for both the discrete
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