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.
The discourse surrounding lingual sovereignty within the African postcolonial context is profoundly intertwined with the fabric of cultural identity and self-determination. Language serves not merely as a conduit for communication but as a repository for a people's collective consciousness, encapsulating their traditions, thoughts, and perspectives. In the realm of postcolonial literature, this dialogue often grapples with the paradox of expressing indigenous narratives through the linguistic tools of former colonizers. Chinua Achebe's seminal work, "Things Fall Apart," exemplifies this conundrum, artfully weaving the orature and culture of Umuofia within the English language. Achebe's choice to write in English—a language imposed upon hi
... Show MoreIn recent days, the escalating need to seamlessly transfer data traffic without discontinuities across the Internet network has exerted immense pressure on the capacity of these networks. Consequently, this surge in demand has resulted in the disruption of traffic flow continuity. Despite the emergence of intelligent networking technologies such as software-defined networking, network cloudification, and network function virtualization, they still need to improve their performance. Our proposal provides a novel solution to tackle traffic flow continuity by controlling the selected packet header bits (Differentiated Services Code Point (DSCP)) that govern the traffic flow priority. By setting the DSCP bits, we can determine the appropriate p
... Show MoreCybersecurity involves protecting computer networks, systems, and data from unauthorized access and disruptions using advanced technologies. The purpose of this research is to establish a novel cyber security framework for strengthening cloud data protection. In this paper, we propose a novel Dung Beetle optimization-redefined Intelligent Random Forest (DB-IRF) for accurate detection of intrusions in a cloud environment. We obtained a dataset that includes cloud system logs and network traffic data, including normal and malicious activities, to train our proposed model. We utilized z-score normalization to pre-process the gathered raw data. Our suggested model enhances classification accuracy by integrating DB optimization with the
... Show MoreRaising children occupies a prominent place in Islam as a step paving the way for the success of reform projects on the level of diverse human life, and for this reason the recommendation for education was mentioned in the mission entrusted to the Prophet (PBUH), the Almighty said:
(( هُوَ الَّذِي بَعَثَ فِي الْأُمِّيِّينَ رَسُولًا مِّنْهُمْ يَتْلُو عَلَيْهِمْ آيَاتِهِ وَيُزَكِّيهِمْ وَيُعَلِّمُهُمُ الْكِتَابَ وَالْحِكْمَةَ وَإِن كَانُوا مِن قَبْلُ لَفِي ضَلَالٍ مُّبِينٍ)) Jumaa verse /38
The topic of the research that is in your hands deals with the
... Show MoreThe presence and absence binary is an essential part of and a motivation for the direction vision which depends on the principle that the components of the theatre performance move in contrast with each other; one is directly informative which is the presence relations and the other is structural that is identical to the absence relations. The first is material band visual that evokes the incorporeal mental absent. Hence, the present study(Presence and Absence in the Iraqi Theatre Performance :Summer's Rain Play as an Example) aims at explaining those relations and their transformations between presence and absence in the performance
Background: Interleukin-6 (IL-6) is a cytokine that has several functions, including stimulating growth and inhibiting cell death. It has the potential to operate as a biomarker for the accurate prediction of disease severity and activity, platelets-rich plasma was used in the treatment of oral lichen planus and can change the salivary IL-6 level.
Objectives: To study the clinical outcome of intralesional platelets-rich plasma in patients with oral lichen planus and to measure salivary IL-6 levels before and after the treatment with platelets-rich plasma were the aims of this study.
Subjects and Methods: In this clinical trial, for each patient a standardi
... Show MoreThat the child in the early years of his life learns a lot of experiences that help him
grow properly, and if the availability of the child family atmosphere full of love and affection
and trust he was able to grow healthy growth and is in accordance with itself and with the
community in which they live, and stop method of the child in the expression of fear on the
nature of situation and on the theme of fear and the reaction of those around the child as well
as the vague positions that can not a child from its interpretation raises his fear, and its lead in
life are the kindergarten of the growing concerns him, causing his social concern, therefore,
targeted current research to identify patterns of parental care(mot
Evaluation of Dot. ELISA test for Diagnosis Visceral Leishmaniasis in Infected Children