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.
“Child of today is a man of the future" this slogan is one of the most popular logos of international organizations and institutions that dealing with human beings needs in general and children needs in particular, whether these needs are educational, health, social, or economic. Children require special care and extra legal protection, since the child-raising is not the Child’s own issue, but it's the issue of the society in which he/she would integrate.
As the education and language skillsacquisition primarily associated with hearing, because human being receives most of the skills and knowledge through the hearing; that imitate sounds and learn how to speak isacquired only by hearing, so therefore the hearing - impairedchi
... Show MoreBackground: Anemia is a common finding in patients with renal failure disease and it is, primarily, due to reduced production of iron and erythropoietin. Therefore, the aim of current study was to evaluate the relationship between serum level of hepcidin 25, on the one hand, and levels of serum iron, total iron-binding capacity, serum erythropoietin and transferrin saturation% in Iraqi male patients undrgoning haemodialysis.. Methods: Serum from75 males in the end stage of hemodialysis, as group one, and 25 Iraqi healthy malecontrols, as group two, were recruited in this study. Results: Data from current study showed significant increase in hepcidin 25 and significant decrease in serum iron, total iron-binding capacity, transferrin saturati
... Show MoreIn this work, the spirurid nematode Hartertia gallinarum was reported in the intestine of the spotted sandgrouse, Pterocles senegallus, collected in three different locations: Ga'ara Depression, Iraqi Western Desert, Zurbatiyah and Al-Attariyah, Middle of Iraq. Description and measurements of the nematode were given. The role of termites in the infection of P. senegallus with H. gallinarum was discussed. Occurrence of H. gallinarum in P. senegallus represents a new host record.
Background: Radial neck fractures in children account for 5 to 10% of all elbow fractures in children. They are extra-articular fractures of the radius proximal to the bicipital tuberosity. The physis is typically involved as a Salter-Harris I or II pattern. Alternatively, the fracture sometimes is extraphyseal, through the metaphysis. In children there is considerable potential for remodeling after these fractures. Up to 30° of radial head tilt and up to 3 mm of transverse displacement are acceptable. Many modalities of treatment are available regarding Surgical &Non-Surgical treatments. Objectives: To evaluate the functional outcome after surgical percutaneous joystick reduction therapy of severely angulated radial neck fracture i
... Show MoreBackground: Radial neck fractures in children account for 5 to 10% of all elbow fractures in children. They are extra-articular fractures of the radius proximal to the bicipital tuberosity. The physis is typically involved as a Salter-Harris I or II pattern. Alternatively, the fracture sometimes is extraphyseal, through the metaphysis. In children there is considerable potential for remodeling after these fractures. Up to 30° of radial head tilt and up to 3 mm of transverse displacement are acceptable. Many modalities of treatment are available regarding Surgical &Non-Surgical treatments. Objectives: To evaluate the functional outcome after surgical percutaneous joystick reduction therapy of severely angulated radial neck fracture i
... Show MoreThe mediation system is based on settling the dispute amicably through the intervention of a third party by bringing views closer away from the judiciary, which is an amicable way to settle disputes, which disputants resort to voluntarily, but some Western legislation has begun to impose resorting to mediation to settle disputes compulsorily, to take advantage of its advantages, get rid of the disadvantages of resorting to the judiciary in some disputes, and relieve pressure on the courts.
Background. In cases of spontaneous subarachnoid haemorrhage (SAH) with multiple intracranial aneurysms (MIAs) detected on angiography, some radiological clues assist in determining the site of a ruptured aneurysm which is bleeding is quite beneficial for the selection of the best treatment strategy. Case description. We report a case of a 60 years old patient who presented with spontaneous SAH, sellar hematoma, and three different aneurysms detected in angiography. Although the right Posterior communicating artery (PcomA) aneurysms showed Murphy’s teat on angiography intraoperatively, we discovered that the right superior hypophyseal aneurysm (SHA) was the source of the index bleeding. Both aneurysms were clipped successfully. Co
... Show MoreUrban agriculture is one of the important urban uses of land in cities since the inception of cities and civilizations, but the great expansion of cities in the world during the twentieth century and the beginning of the twentieth century and the increase in the number of urban residents compared to the rural population has led to a decline in this use in favor of other uses.
This decline in agricultural and green land areas in cities has negatively affected the environment, natural life and biological diversity in cities in addition to the great impact on the climate and the increase in temperatures and the negative impact on the economic side, since urban agriculture is an important pillar of the economy, especially
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