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.
Rheumatoid arthritis (RA) is an inflammatory condition causing joint pain and stiffness, with often debilitating and life-limiting consequences. Recently, a new B-cell secreted cytokine, IL-39, was identified in mice. The most up-to-date research indicates that although IL-39 is expressed in murine models of lupus and has a role in mediating the inflammatory response in this context, there is no solid, replicated evidence of the existence of IL-39 in humans. This study aimed to clarify the existence and role of IL-39 in the human body and to elucidate whether it plays a role in rheumatoid arthritis. Accordingly, serum samples were collected from 66 patients with rheumatoid arthritis who were under therapy and from 66 healthy c
... Show More Background: It is evident that there is a lack of clear consensus on the role of luteal phase serum Progesterone (P) level in the prediction of early pregnancy after controlled ovarian hyperstimulation (COH) protocols in assisted reproductive techniques (ART).
Objective: We conducted this study in order to investigate the potential value of luteal phase serum progesterone measurement, in women undergoing ICSI treatment cycles and receiving progesterone supplements, in relation to pregnancy rate.
Patients: A total of 68 women aged 20-40 years undergoing their first intracytoplasmic sperm injection (ICSI) cycles in fertility and I.V.F center of Kamal Al samrai hospital.
Methods: women consecutively treated by ICSI had Estima
The 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 MoreObjective: 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 MorePoliomyelitis is a viral disease caused by an enterovirus known as poliovirus and is well known for its role in causing paralysis in children, the virus is only infectious in humans and does pass into the central nervous system and cause various degrees of paralysis, poliovirus passes newcomer disabuse of suppliant to alms-man thumb the fecal-oral route infected persons still shed the virus in their stool allowing the virus to infect others. The main aim of this study was isolating and differentiation of poliovirus strains (Sabin virus) from the stool samples of children received polio vaccine TOPV and suffering from acute flaccid paralysis.
In this study use the cell culture system as the
... Show MoreThe present study aimed to shed light on the urine HSP70 concentration of patients with urinary bladder carcinoma UBC and control subjects as new urinary biomarker. The second aim was to associate this protein concentration with UBC stage and grade in patients with UBC. A direct ELISA was used to quantify urine HSP concentrations in 58 patients with urinary bladder carcinoma UBC with different grades (G) and stages (T) all malignant of them was transitional cell carcinoma (TCC) type , 15 from patients with urinary Bladder disorders other than cancer UBD and 15 healthy subjects(control) . Urine concentrations of HSP70 were elevated in patients with UBC compared to those without UBC (healthy and UBD, P< 0.5). There was a high signifi
... Show MoreBackground: Staphylococcus aureus is a Gram-positive, spherical, grape like clusters arrangment
bacterium, non-spore forming. Is a genus that causes many hard diseases such as food poisoning,
gastroenteritis with severe symptoms. S. aureus is commonly found in the wide environment (soil, air and
water) and is importantly found in the nose and skin in the humans. And can causes ear infection by
entering the ear. The diagnosis of Otitis externa is usually made clinically and bacterial tests.
Objective: To detection and isolation of the bacteria Staphylococcus aureus from pus specimens of ear
swab, among Iraqi children with Otitis externa.
Patients and methods: Eighty ear swab specimens from suspected cases of Otitis ex
This 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
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