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.
Objective: The study aimed to assess Leucine-rich alpha-2-glycoprotein-1 biomarker serum level in hospitalized COVID-19 patients. Methods: The case control study from multi-centers in Baghdad included 45 adult patients (19 females and 26 males) with COVID-19, diagnosed with a positive real-time reverse transcription polymerase chain reaction and excluded negative RT-PCR for COVID-19 and comorbidity conditions. Second group, was 43 control (20 females and 23 males). Results: This study found a decrease Leucine-rich alpha-2-glycoprotein-1 biomarker serum level in these patients and a significant difference in D. dimer, neutrophil count, lymphocyte count, and the neutrophil-lymphocyte ratio between the patients and controls at a P valu
... Show MoreAdrenomedullin (ADM) is a strong vasodilator peptide that was first identified in human pheochromocytoma and known to expressed in numerous cell types and believed to have pleiotropic impacts on pregnancy-related vascular adaptations and fetal growth. Mid-regional pro-adrenomedullin (MR-proADM) peptide which secreted in an equimolar concentration to ADM used to quantify ADM in plasma since it has longer half-life with more availability than ADM and for that reason the present study determine the serum MR-proADM level in the plasma of pregnant women with and without GDM and determine any potential correlation between MR-proADM and gestational diabetes mellitus (GDM) in an observational case–control study conducted on
... Show MoreThe novel was generally distinguished from other literary arts in its connection with the living reality as an imaginative practice that relies on political, economic, social, intellectual and cultural references and as a crucial tool in reading cultural references and dive deep into reality. As every novelist has a vision to embody this reality. As every novelist has a vision to embody this reality. The novel of ("Exceeded border by Hammed Al-Kafa’i) is a considered a fertile field for presenting social issues in their apparent structure and revealing the cultural patterns behind them which lies in its deep structure. The novel here moves its characters in its imaginary world in a way that it becomes more capable of adaptation and crysta
... Show MoreThis study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity betwe
... Show MoreThe aim of the current research is to construct a scale of emotional adjustment for kindergarten children and to set a standard for its evaluation. To achieve this, a scale consisting of (19) items was prepared. The mother of the child answered by adopting the method of self-report, which is expressed in the form of reporting terms, as each item represents a situation in the child's life and each situation has three alternatives to answer that represent various responses to the mentioned situation. One of the alternatives represents the emotionally adaptive response, which is given a degree (3), the second response expresses the emotional adjustment partly that took the degree of (2), and the third response expresses the weakness of emot
... Show MoreLipid disorders and cardiovascular disease (CVD) risk are known to be increased in patients with diabetes mellitus. The effects of statins on serum lipid levels are well known; however, previous studies did not compare the effects of statins on serum lipid levels in diabetic patients with non-diabetic patients. To investigate the effects of Atorvastatin on serum lipid profiles in hyperlipidemic patients with type 2 diabetes mellitus in comparison with hyperlipidemic patients without diabetes.This study was conducted on 33 type 2 diabetic patients & 34 non-diabetic patients; their age range was 40-80 years, all of them were hyperlipidemic, who had been administered 10, 20, & 40 mg daily of Atorvastatin and completed a 6-month foll
... Show MoreBackground:The effects of contraception on Trichomonas vaginalis have important implications for women who suffer from infections associated with disruptions in the vaginal ecology, such as bacterial vaginitis and urinary tract infections.
Objective: To find the association of the common types of contraceptions with the Trichomonasvaginalis infection in women admitted to the Al-BatoolTeaching Hospital for Maternity and Children in Baqubah city.
Type of study: Cross-sectional study
Methods: This study consist of 75 women with contraception use and71 apparently healthy non contraception user women admitted to outpatient in Al
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