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.
Multiple sclerosis (MS) is a chronic, inflammatory demyelinating disease of central nervous system with complex etiopathogenesis that impacts young adults (Lee et al., 2015), and MS impacts younger and middle aged character and leads to a range of disabilities that can alter their daily routines (Yara et al, 2010). Although, the exact cause of MS is still undetermined, the disease is mediated by adaptive immunity through the infiltration of T cells into the central nervous system (Bjelobaba et al, 2017). MS causes the Focal neurological symptomsand biochemical changes in the molecular level and the variation of neural cells such as loss or alteration of sensation, motor function, visible signs such as blurred vision or transient blindness,
... Show MoreBackground: The aim of the present study is to evaluate the esthetic smile in sample of Iraqi adults and to assess the gender differences. Materials and Methods: 100 persons (50malesand 50 females had class I normal dental and skeletal selected for this study.Clinical examination and digital photograph with posed smile were performed for each individual. Six linear soft tissue parameters in each photograph using AutoCAD program 2011. Five visual and four quantitative evaluations of the smile were studied for eachsubject. The smile arch and index, buccal corridor spaces (BCSs) were studied.Descriptive statistics of the measurements were calculated. Independent student’s ttestswere used to evaluate the gender differences. Statistics: Desc
... Show MoreWrong behavioral deviations among youth witnessed an obvious growing, some of these deviations are, robbery, drug and internet addiction, and smoking. Additionally, intellectual extremism and the disrespect of the traditions and genuine customs, In light of this issue, the research aims to shed light on the educational and preventative role of the woman in protecting and immunizing children from the wrong behavioral deviations. The woman has a significant and influential role in the society in general and in her family, in particular to the responsibility lies on her. The research shed light on the manifestations of behavioral deviation in children and the mechanisms of prevention and treatment. The research concluded with a set of recom
... Show MoreBackground: Colorectal cancer (CRC) is a major killer, and nonalcoholic fatty liver disease (NAFLD) affects almost one-quarter of the global population. The aim of the study is to Investigate the correlation between nonalcoholic fatty liver disease (NAFLD) and an increased risk of colorectal cancer (CRC), as well as the relationship between liver function enzymes and specific serum biomarkers in CRC patients with NAFLD. Methods: A case-control study involving 60 participants was conducted from February to August 2022. The patients with colon cancer were examined at Baghdad Medical City's Al-Amal Hospital for Radiation and Nuclear Medicine and Oncology Teaching Hospital, and blood samples were taken. Thirty patients with NAFLD who ha
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The current study was conducted to assess the effect of advancing age on total serum IgE level in asthmatic patients. To this purpose, 90 asthmatic patients and 30 healthy individuals ( control group ) were enrolled. Asthmatic patients were categorized into four groups. Group A consisted of asthmatic patients (9) whose age was more than 20 and up to 30 y. Group B contained asthmatics (13) of age more than 30 and up to 40 y. Group C comprised those (23) of more than 40 and up to 50 y. Group D consisted asthmatic patients (45) of age more than 50 y. Total serum IgE level significantly changed in group D patients when compared with those of
The escalating development of technology is one of the distinctive features of the communication environment in the field of sending and receiving satellite broadcasts of television channels in general and Iraqi satellite channels in particular, which contributed to the wide and rapid spread and reaching outside the drawn boundaries and bypassing even natural obstacles, and what is important in this is the communication content that these broadcasts Channels and its impact on the recipient due to the media, cultural, educational and entertainment content it provides, and in our research we will analyze the communication content of the Iraqi satellite channel by choosing one of its dialogue programs that coincided with the events of the l
... Show MoreThe most common nosocomial fungal infection in hospitals is urinary tract candidiasis. Candida albicans is the most prevalent cause of nosocomial fungal urinary tract infections, however Candida species distribution is changing rapidly. At the same time, the rise in urinary tract candidiasis has resulted in the emergence of antifungal-resistant Candida species. This study aimed to diagnose Candida Spp. In women with UTI and reveal the nucleotides sequences of CA-INT-L Gene to look for mutation within the gene. This study included 100 women patients suffering from urinary tract infections and vaginal swabs samples from those individuals were taken to identify the presence of Candida. They were between the ages of 22 and 67. Candida i
... Show MoreThe aim: Infection with the hepatitis B virus (HBV) caused by blood transfusion is a big problem throughout the world. The aim of study is to determine the faster and more accurate methods for detection of hepatitis B infections by serological screening and PCR- amplification. Materials and methods: A total of 140528 donors were tested for HBsAg and total anti-HBc from January to October 2021 in Iraq’s National Blood Transfusion Center; however, only 100 samples with HBsAg (-) and anti-HBc (+) were collected and tested for HBV DNA using quantitative real-time PCR. Results: From 2015 to 2021, the percentage of HBsAg positive donors was 0.33 percent in 2015, 0.32 percent in 2016, 0.30 percent in 2017, 0.28 percent in 2018, 0.23 pe
... Show MoreBackground: One way to target polypharmacy and inappropriate medication in hemodialysis (HD) patients is with medication deprescribing. Objective: To assess the impact of implementing a pharmacist-led deprescribing program on medication adherence among HD patients. Method: A prospective interventional, one-group pretest-posttest-only design study was conducted at a hemodialysis center in Wasit Governorate, Iraq. Medication reconciliation followed by medication review based on the deprescribing program was done for all eligible patients, and the patients were monitored for three months for any possible complications. Results: Two hundred and seventy patients were screened for eligibility. Only one hundred and eighteen were enrolled i
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