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.
Teikyo Medical and medicine Journal (ISSN:03875547) is a monthly peer reviewed fast publishing international medical and medicine journal that aims to publish good quality of Medical and pharmaceutical, medicine and health science Journal.
Background: disturbed physiological rhythm of blood pressure in preeclampsia is a common finding. The role of oxidative stress in pathogenesis of preeclampsia is well accepted. Melatonin is a powerful free radical scavenger so it's rapidly consumed by enhanced reactive oxygen species in preeclampsia causing non-dipping in blood pressure.Objective: To evaluate the change in plasma melatonin levels in patients with preeclampsia and its relationship with blood pressure.Patients and methods: In this prospective case control study a total of 40 primigravidae pregnant women were recruited during the period of 11 months between August 2015 and August 2016 in Baghdad teaching hospital, medical city, Iraq, divided into two groups:First group
... Show MoreBackground: Periodontal diseases are initiated by microbial plaque, which accumulates in the sulcular region and induces an inflammatory response. The Receptor activator of nuclear factor-kappa B ligand / osteoprotegerin (RANKL/OPG) axis is involved in the regulation of bone metabolism in periodontitis, in which an increase in receptor activator of nuclear factor-kappa B ligand or a decrease in osteoprotegerin can tip the balance in favor of osteoclastogenesis and the resorption of alveolar bone that is the hallmark of periodontitis. This study was performed to investigate the role of salivary levels of RANKL and OPG in pathogenesis of chronic periodontitis. Subjects and Methods: Fifty five subjects with chronic periodontitis with ages rang
... Show MoreBackground: Acute myocardial infarction (AMI) is one of the most common diagnoses in hospitalized patients. Increased plasma hemostatic markers were noted in acute myocardial infarction, indicating that the blood coagulation system is highly activated in those patients. Aims of the study: To study the level of intrinsic coagulation factors including (FVIII:C, FIX:C ,FXI:C ,FXII:C ) in patients with acute myocardial infarction. Type of the study: Cross –sectional study. Methods: Thirty patients (their age range is 48-68 years) were included in this study (9 female, 21 male) who were just admitted to the coronary care unit in AL-Yarmouk Teaching Hospital and diagnosed as having acute myocardial infarction patients, blood samples were tak
... Show MoreBackground: Insulin resistance (IR) is the primary metabolic disorder associated with obesity. Obesity is a growing worldwide health problem affecting both adults and children. Objectives: To determine the association between leptin and IR, and to identify the ratio of fasting glucose/leptin (G/L) and insulin/leptin (I/L) as a new simple method for the detection of IR in obese children.Methods: This study was done in the National DiabeticCenter/ AL-Mustansiriya University during the period fromMay 2013 until the end of October 2013. Fasting bloodglucose (FBG), serum insulin, leptin, and lipid profile weremeasured in 52 obese children (24 children with IR and 28without IR); their age range was (5-15) years, they werecompared with 38 healt
... Show MoreCybercrime and risks to children between the problems and solutions( An analytical study in the light of international, Arab and national statistics).
Lies the problem of the study to identify a new type of crime is different from the same traditional character of the crimes or what was customary since human creation up to the information revolution and we enter the era of globalization, which is also called (cyber crime) and their negative impact on all segments of society, especially children, as they the day of the most important social security threats, for all local and international communities alike , and those risks require collective action to various sectors and segments of society ,especially the educated classes in order t
The current research aims at studying the precise and big movement skills and the ability
of the diabetic child to do them, The research sample consisted of ten diabetic children who
go to the Diabetes Center of Research that is apart of the Yarmook hospital. The sample was
chosen according to the intentional method and it wasn’t possible to have bigger sample
because the parents of the children didn’t agree for fear on the children’s health. It was
apparent through the research that the diabetic child performs the big movement skills better
than his ability to do the precise movement skills because they require accuracy,
concentration and high attention.
The most prominent recommendations and suggestions.
The current research aims to investigate the effect of a specimen of Daniel in the acquisition of concepts for the Arabic language curricula material to the students of the third phase of the Faculty of Basic Education Department of Arabic Language. The sample consists of (93) applications and a student of (47) students in the Division (A), which represents the experimental group which studied the use of a specimen of Daniel, and (46) students in the Division (B), which represents the control group, which studied the traditional way. The subject of unified two groups, which subjects the Arabic language curricula which includes six chapters.
The duration of the experiment is a full semester. The researchers also prepared a tool for mea
The aim of the current research is to measure the sense of coherence among individuals with physical disabilities. The researcher adopted a scale of (29) paragraphs spread over three domains designed by Antonovski (1993) to measure the sense of coherence. A sample of (210) disabled individuals was chosen randomly to collect the required data. The data were analyzed using the statistical package for social sciences (SPSS). The result showed a lack of sense of coherence among the sample.