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.
Abstract
Coronavirus has affected many people around the world and caused an increase in the number of hospitalized patients and deaths. The prediction factor may help the physician to classify whether the patient needs more medical attention to decrease mortality and worsening of symptoms. We aimed to study the possible relationship between C reactive protein level and the severity of symptoms and its effect on the prognosis of the disease. And determine patients who require closer respiratory monitoring and more aggressive supportive therapies to avoid poor prognosis. The data was gathered using medical record data, the patient's medical history, and the onset of symptoms, as well as a blood sample to test the
... Show MoreIn the present study a series of some four-,five-and seven-membered heterocyclic compounds have been synthesized by the reaetion of Schiff bases (1a,b) with chloroacetyl chloride, sodium azide, thioglycolic acid or various anhydrides to give azetidinone (2a,b), tetrazole (3a,b), thiazolidinone (4a,b) and 1,3-oxazepine derivatives (5-8a,b) respectively. Schiff bases (1a,b)were prepared from the reaction of p-toluidine with aromatic aldehydes. All synthesized compounds were characterized by physical properties and spectral data.
Background: Most prevalent chronic liver disease in developed and developing nations is non-alcoholic fatty liver disease. From fatty liver, which often has benign, non-progressive clinical history, to non-alcoholic steatohepatitis, a more serious variant of fatty liver that can lead to cirrhosis and end-stage liver disease, non-alcoholic fatty liver disease encompasses broad spectrum of diseases. The gold standard for determining extent of hepatic fibrosis is still liver biopsy; however, number of noninvasive tests have been established to make diagnosis and assess effectiveness of treatment.
Objective: Aim of study was to assess effectiveness of the combination of fibroscan and
... Show MoreBackground: Day case surgery has become widely accepted as a safe alternative to the inpatient care in up to 70% of the cases at a children’s hospital. It has the advantage of minimizing the psychological trauma of hospitalization, decreasing nosocomial infection, less costly and frees up hospital beds.Objectives: To assess the advantages and disadvantages of this type of surgery.Methods: this is a prospective study, in which two hundred thirty childhood tonsillectomies were performed as a day-case in the department of otolaryngology at Al Shaheed Gazi hospital, Medical City Complex during the period from October 2009 to September 2010. The patients age range from 3-12 years (Mean 7.2 years).Results: 46.08% males and 53.91% females wer
... Show MoreModern French novel has gained a distinctive status in the history of French literature during the first half of the twentieth century. This is due to many factors including the new literary descriptive objective style adopted by novelists like Alain Robbe – Grillet that has long been regarded as the outstanding writer of the nouveau roman, as well as its major spokesman, a representative writer and a leading theoretician of the new novel that has broken the classical rules of the one hero and evolved, through questioning the relationship of man and the world and reevaluating the limits of contemporary fiction , into creating a new form of narrative.
Résumé:
En vue de résu
... Show MoreThe organizational integration forms a necessity according to McKinsey model, especially for service organizations. In the context of various service sector developments, importance adoption of compact mechanisms by these organizations to upgrade their services has increased and senior management must be more aware of environmental, competitive and developmental requirements. It gets more important when it shows in an organization seeking at excellence of making services within its policies and strategies. Subject organizational integration dimensions (strategy, structure, systems, style, staff, shared values, and skills) are effective components in directing behaviors of employees and organization. This motivated both researcher
... Show MorePurpose: The research aims to study the measurement of the performance of accounting units level of the research sample by using the Federal quality Model European (EFQM) Design/methodology/approach: the (EFQM) which included seven dimensions "Leadership, Strategic Planning, External Focus, Information and Analysis, Faculty / Staff and Workplace Focus, Process Effectiveness & Outcomes and Achievements" And its effect on the Control Environment, which includes three dimensions: "Integrity, management philosophy and commitment to powers" . the sample is supervisory units of colleges affiliated with the University of Baghdad in Iraq, and a sample was chosen that included fifty-one individuals in the accounting departments.
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