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.
Background: The vertical distance between the upper and lower incisal edge of the central incisors when the mouth is opened as wide as possible is called maximum mouth opening (MMO). Any pathological change in the masticatory system had a direct effect on the maximal mouth opening. The aim of this study was to evaluate the relationship between the maximum bite force and the maximum mouth opening among group of children. Materials and methods: Four hundred children of both genders were included in this study, their age ranged from eight to ten years. Anterior and posterior (right, left) bite force were measured using bite force sensor. Maximum mouth opening was evaluated by electronic digital caliper. Data was statistically analyzed by de
... Show MoreSome intestinal parasites might impact a child's nutritional condition and lipid profile. It has recently been revealed that these parasites have a link to biometric data and lipid profiles. As a result, the current study aims to see how Giardia lamblia and Cryptosporidium affect nutritional status and lipid profile. From October 2021 to March 2022, this study was done in Baghdad. The participants in the study were 110 children of both sexes, ranging in age from 2 to 17. According to the results of the stool examination, the children were separated into three groups: those infected with Giardia lamblia (n=47), those infected with Cryptosporidium (n=43), and those who appeared to be healthy (n=
... Show MoreAutism is considered as one of the most developmental problems in the world that interfere with children growth and affect their social ,emotional and cognitive development child with autism used to be normal in his growth but in his development parents started to notice that their child characterize by loneliness and withdrawal himself from the surrounding world with some mannerism behaviors these characteristics used to be manifested children during the 1st three year of their life . It appears, one in every 500 birth (The American International Institution for child health 1997. and it would be less in females than makes at 1/4 percent .
Aim is to b
... Show MoreThe topic of urban transformations has attracted the attention of researchers as it is one of the basic issues through which cities can be transformed towards sustainability. A specific level of transformation levels according to a philosophical concept known as a crossing. This article has relied on a specific methodology that aims to find a new approach for urban transformation based on the crossing concept. This concept derives from philosophical entrances based on the concepts of (being, process, becoming, and integration). Four levels have been for the crossing are (normal, ascending, leap, and descending). Each of these levels includes specific characteristics that distinguish it. The results showed that there is no descending
... Show MoreDiabetic kidney disease is an illness of the glomerulus that interferes with the glomerular filtration barrier (GFB), which is worked to enable kidney to selective purification of water and solutes in addition to limiting the movement of large macromolecules such as albumin. In the glomerular endothelium, mesangial cells, foot cells, and the brush border of the proximal tubules, ACE-2 is expressed and that the kidneys represent the highest-expressing region of this enzyme. Thus, the current study aimed to evaluate ACE-2 level in this case compared to healthy condition. The study Conducted with 120 male and female ranging in age (30-65) years old. Ninety patients with type 2 diabetes subdivided into three groups on the basis of A
... Show MoreThe health care industry is witnessing an increasing trend in the use of generic medicines because of their presumed low cost compared with innovator medicines. The aim of this study was to determine and compare the performance of the copy drug Osveral®and its innovator drug deferasirox (Exjade®).
A prospective observational study including 223 patients receiving the branded medicine Exjade®and 101 patients receiving the copy Osveral®was carried out. Data were assessed for a 1-year period and included clinical symptoms, serum ferrit
Background: Studies discussing the correlation between biochemical markers of bone turnover and the diagnosis of osteoporosis in postmenopausal Iraqi women are rare. This study is devoted to find out the significance of serum osteocalcin (OC) and osteopontin (OPN) levels with the incidence of osteoporosis and its major complication (fracture).Objectives: to investigate the significance of bone turnover biochemical markers; serum osteocalcin and serum osteopontin in evaluating osteoporosis for postmenopausal Iraqi women with and without history of vertebral fracture, as well as to explore the relationship of these markers with bone mineral density (BMD).Methods: Fifty seven postmenopausal women whose ages are fifty years old and over, cat
... Show MoreBackground: In human life, malnutrition may adversely affect various aspects of growth at different stages of life. Teeth are particularly sensitive to malnutrition. Malnutrition may affect odontometeric measurement involving arch width and length of primary dentition. The aim of this study is to estimate the effect of nutrition on arch width and length dimension measurements among children aged 5 years old. Material and methods: This study was conducted among malnourished group in comparison to well-nourished group matching with age and gender. The present study included 158 children aged 5 years (78 malnourished and 80 well-nourished). The assessment of nutritional status was done by using three nutritional indicators, namely Height-for-a
... Show MoreThalassemia is a term that refers to a group of genetic disorders characterized by a defect in the synthesis of hemoglobin. It is sometimes called Mediterranean anemia. Many biochemical changes in the blood accompany this disease. In this research, some biochemical parameters were measured in thalassemic patients and compared with healthy control group. These parameters include serum Iron, ferritin, TIBC, hemoglobin, uric acid, albumin, calcium, transferrin, and transferrin saturation percentage. The results of the research showed that there is a significant increase (P<0.05) in serum iron and ferritin in thalassemic patients group in comparison with healthy control group. A significant decrease (P<0.05) in serum uric a
... Show MoreCognitive-behavioral therapy is one of the most important relatively recent; treatment programs that attempt to modify behavior and control psychological disorders by modifying the individual's thinking style and awareness of himself and his environment, and cognitive reconstruction by replacing negative thoughts with positive ones. The current study aimed to know the effectiveness of a cognitive behavioral treatment program in reducing nervous fatigue among mothers of children with cerebral palsy. The sample on which the nervous fatigue scale was applied consisted of (30) mothers whose son suffers from cerebral palsy, and the results indicated that (24) mothers suffer from nervous fatigue. This sample was divided
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