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.
Within the framework of big data, energy issues are highly significant. Despite the significance of energy, theoretical studies focusing primarily on the issue of energy within big data analytics in relation to computational intelligent algorithms are scarce. The purpose of this study is to explore the theoretical aspects of energy issues in big data analytics in relation to computational intelligent algorithms since this is critical in exploring the emperica aspects of big data. In this chapter, we present a theoretical study of energy issues related to applications of computational intelligent algorithms in big data analytics. This work highlights that big data analytics using computational intelligent algorithms generates a very high amo
... Show MoreProblem: Cancer is regarded as one of the world's deadliest diseases. Machine learning and its new branch (deep learning) algorithms can facilitate the way of dealing with cancer, especially in the field of cancer prevention and detection. Traditional ways of analyzing cancer data have their limits, and cancer data is growing quickly. This makes it possible for deep learning to move forward with its powerful abilities to analyze and process cancer data. Aims: In the current study, a deep-learning medical support system for the prediction of lung cancer is presented. Methods: The study uses three different deep learning models (EfficientNetB3, ResNet50 and ResNet101) with the transfer learning concept. The three models are trained using a
... Show MoreAdolescence is considered to be one of the most dangerous and delicate stages that a juvenile goes through. It is a stage which the juvenile enters while he is a child, and emerges from it by being able to have children, but this does not mean the ability to become socially and psychologically mature
Hysterectomy is one of the most common gynecological operations done worldwide. Early diagnosis of the psychosexual effects of a hysterectomy and the fast application of appropriate treatment can prevent further worsening and persistence of symptoms, especially with respect to higher levels of anxiety, depression, lower self-esteem, and sexual impact after a hysterectomy. The aim of this study was to assess the psychological and sexual problems of women with hysterectomy. A descriptive study was carried out from March 1, 2023 to May 25, 2023 to determine the level of psychosexual problems experienced by women after hysterectomy. A purposive (non-probability) sample of 120 women who visited the outpatient clinic at Baghdad Teaching H
... Show MoreMindfulness is considered a process to draw an image of the active event and to creat new social varieties which leaves the individuals open to modernity and to be sensitive towards the context. in contrast, when individuals act with less attention, they need to be more determined concerning the varieties and events of the past . and as a result , they become unaware of the characteristics that creat the individual condition .The problem of the current study is represented in asking about the nature of the possible relationship between mindfulness and self-regulated learning within specific demographic frame of an importantsocial category represented in university students where no previous researches nor theories have agreed on the natu
... Show MoreWhich children infected with physical growth retardation at childhood it will be the largest problems effecting the child and his parents together. So , at the period of early childhood, there must be a state of satisfactions of need because if they didn’t satisfied it will be very hard to be satisfied or replaced at another period because it will be busy with satisfaction of another need of new period, and even it will be satisfactions it still weak and didn’t be am efficient as the matter of if it be satisfied at the exact time Looking at physical growth and its indicators as length and weight and making a comparison with world indicators at peer age phases helps in spe
... Show MoreBackground: The aim of this national oral health survey was to determine the prevalence of malocclusions due to some anomalies in the dentition among the 13 years old Kurdish students in sulaimani intermediate school. Materials and methods: The total sample was 950 (455 males and 495 females) which assessed by diagnostic set and special instrument. The clinical examination was mainly based on the definitions of Björk et al. Some variables were recorded as present or absent sometimes denoting the tooth or the teeth involved in malocclusion and their distribution according to the whole sample. Results: The results showed that 1)The most common extracted tooth was the mandibular first molar (2.9%). 2) At this age group the most common partial
... Show MoreBackground: Sexual dysfunction in patients with schizophrenia was reported as one of the most distressing antipsychotics drug adverse effects and it is directly related to treatment compliance, but the subject seldom touched in the field of psychiatry in Iraq previously.Objectives: To assess and find out the impact of schizophrenia on Sexuality of the patient, and illustrate effect of anti-schizophrenic on sexual activityMethods: using DSM4-TR and ASEX scale questionnaires for 104 male participants from out 155schizophrenic patient were studied in sex clinic in Al-Rashad teaching hospital for psychiatric disease in Baghdad. The study extended for 22 months from 1st of July 2010 to the 1st of April 2012, t test and chi square test were us
... Show MoreAbstract The purpose of the study is to develop self-attendance fear measures for table tennis players and tennis players with disabilities, as well as to gauge how severe these fears are in both groups. The authors propose that there are no statistically significant differences in the level of fear of self-attendance for players of ground tennis and table tennis for the disabled between the arithmetic mean and the hypothetical mean. In keeping with the nature of the current study, we adopted a descriptive methodology, and the sample comprised 62 players of table tennis and tennis for the disabled. The authors make use of the Al-Taei prepared scale (fears of selfattendance). The statistical package for educational sciences (spss v 26)
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