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.
That the strength of the community and its cohesion and integrity of its structure and morals and the prevailing relations and the strength of its institutions depends all on the numbers of a generation of students saturation of the culture of the nation and proud of its heritage and maintained their customs and traditions and voluntarily accept its laws. Students are the future leaders who are more than capable of giving, they represent class they are educated conscious backbone of the nation and the subject of their hopes, and their wealth and energies warehouse actors produced, and one of the key pillars in achieving developments in all areas of life.
Based on the above, the current research aims to identify:
. reflect
... Show MoreCurrent search targeted to:
1 - Measurement of double-thinking among university students.
2 - Identify the significant differences in the degrees of double-thinking members of the sample according to the variables of sex (male - female), specialty (I know - a human).
To achieve the objectives of the research chose researcher samples from the community of the first search for statistical analysis, has reached 400 students, and the second sample of the application of the final, has reached (480) students were selected randomly with simple check of equal value, and the researcher building a search tool double think, After the completion of the scale-building measures think
The aim of this paper is to introduce the concepts of asymptotically p-contractive and asymptotically severe accretive mappings. Also, we give an iterative methods (two step-three step) for finite family of asymptotically p-contractive and asymptotically severe accretive mappings to solve types of equations.
Background: Poly cystic ovary syndrome is a common disorder in women of reproductive age, it is associated with disturbance of reproductive, endocrine and metabolic functions. The pathophysiology of PCOS appears to be multifactorial and polygenic. Leptin seems to play an important role in pathophysiology of PCOS especially in women with BMI ≥25kg/m2. Objectives: To assess leptin level in both PCOS and healthy women and explore the relation to their body weight and body mass index. Patient and Methods: A total of 120 women were enrolled in this study, 60 women (50%) had PCOS (study group) and the reminder 60 women (50%) were healthy women and considered as control group. BMI was calculated first. Both groups were further sub
... Show MoreDiabetic Nephropathy(DN) is a complex disease manifested by persistence microalbuminuria occurring due to the interaction between hemodynamic and metabolic pathway that activates the local renin-angiotensin-aldosterone system resulting in a decline in renal functions.
This study aimed to quantify the associations between serum aldosterone concentration and fetuin- A as a marker of calcification in type 2 diabetic patients with and without microalbuminuria from one side, and study the possible relationship between aldosterone and fetuin-A with glycemic indices, serum electrolyte, renal function and microalbuminuria and body mass index from the other side.
A case-control study involved eighty-six adult subjects
... Show MoreBackground: Cerebral palsy is non-progressive disorder of posture or movement due to a lesion of the developing brain. It is the commonest physical disability in childhood. Objective: To study the clinical, neurological abnormalities, prevalence of convulsion (epilepsy) & to asses the value of CT scans of brain in patients with cerebral palsy.
Obesity is a common disease that resulted from over-nutrition in adults and children. It rarely causes damage to the centers of food in the brain. Obesity is defined as an increased body weight from its natural limit which is resulted from the accumulation of excessive amounts of fatty tissue incredibly up to 20% in males, 30 % in females unless this increase is not due to an increase in muscles as in athletes or accumulation of water in the body which is resulted from Mesothelioma or the magnitude of the skeleton.Obesity is the increase of the total average of fat in the body compared to other tissues, which causes an increasing body weight, thereby increasing body mass. The fatty child has an increase in the stored fatty layer under th
... Show MoreSummary of the research Family violence, its causes and effects on society (women and children). Search Goal: The current research aims to identify: 1. Causes of family and social violence (for children and women). 2. How to process. research importance : Domestic violence is a major and devastating problem that has a negative and direct impact on children in particular and women or mothers in general. The problem of domestic violence is linked to many factors and individual, social, economic, psychological and environmental variables, which makes one theory that claims to be inaccurate. It is difficult to understand the nature of family violence without linking it to some of the concepts related to it. The negative effects that may lead
... Show MoreMany researchers ' views about class selectors popular theatre in the world, whom he found in political deals popular presentations while others in comedy shows or dealing with social problems, or simply build a direct pattern of relationship between actors and audience were popular, and certainly the Iraqi popular theatre has its own parameters, structural differences result of Iraqi society at all levels, so the researcher found the search problem is to answer the question that (what are category classes Or within the category of Iraqi popular theatrical-in the play of - the string and the bird which un – example ) , then select the aim has his research of detecting those parameters, and search scientific significance as to scholars
... Show MoreMII Al-Itabi, WH Abdulameer, OSS Al-Mashhadani, Review of International Geographical Education Online, 2021 - Cited by 1