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 inflammator

This work studies the role of serum apelin-36 and Glutathione S-transferases (GST) activity in association with the hormonal, metabolic profiles and their link to the risk of cardiovascular disease (CVD) in healthy and patients' ladies with polycystic ovary syndrome (PCOS). A total of fifty-four (PCOS) patients and thirty-one healthy woman as a control have been studied. The PCOS patients were subdivided on the basis of body-mass-index (BMI), into 2-subgroups (the first group was obese-PCOS with BMI ≥ 30 and the second group was non-obese PCOS MBI<30). Fasting-insulin-levels and Lipid-profile, Homeostatic-model assessment-of-insulin-resistance (HOMA-IR), follicle-stimulating-hormone (FSH), luteinizing-hormone (LH), testosterone and

Background: Type 2 diabetes mellitusand chronic periodontitis hold a close relationship that has been the focus of many researches. Currently there is an appreciation to the role of adipose tissue-derived substances "the adipokines" in immune-inflammatory responses; also, there is an interest in using the simple non-invasive saliva in diagnosing and linking oral and general health problems. The current study aims to determine the periodontal health status in the chronic periodontitis patients with and without poorly or well controlled type 2 diabetes mellitus, measure the salivary levels of two adipokines "leptin and resistin", pH and flow rate and then correlate between these clinical periodontal, biochemical and physical parameters in eac

RA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study

Background: There is a significant molecular response to imatinib given at standard doses in individuals with chronic myeloid leukemia (CML) whose ABCB1 polymorphisms are present. Objective: To investigate the impact of the polymorphism in the ABCB1 gene rs1128503 on the effectiveness of nilotinib or imatinib therapy. Methods: From May 2022 until the end of January 2023, the current study was carried out in a single research institution, the National Center of Hematology, Baghdad Teaching Hospital at Medical City, Iraq. 76 people with chronic phase myeloid leukemia (CML-CP), who had previously received a diagnosis using the European Leukemia Net (ELN) criteria, enrolled in the trial. The PCR product was delivered to Macrogen Corpora

Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f

Glutathione S-transferases (GSTs) are enzymes that included, in a more range of detoxifying reactions by conjugation of glutathione, to electrophilic material. Polymorphisms n the genes that responsible of GSTs affect, the function of the GSTs. GSTs play an active role in protection of cell against oxidative stress mechanism. Polymorphisms of GSTP1 at codon 105 amino acids forms GSTP1 important site for bind of hydrophobic electrophiles and the substitution of Ile/Val affect substrate specially catalytic activity of the enzyme and may correlate with reach to different diseases in human like diabetes mellitus type2 disease. Correlation between these polymorphisms and changes in the parameters file of diabetic patients has also bee

This study is the first investigation in Iraq dealing with genotyping of IL-4 −590 (C>T) gene, especially in Iraqi patients with asthma. We studied forty-eight blood samples collected from patients with asthma and compared with age-matched 25 healthy individuals as controls. The polymorphism results of IL-4 −590 (C>T) gene by using amplification refractory mutation system (ARMS-PCR) showed the presence of C and T alleles and three genotypes (CC, CT, and TT). Interestingly the frequency of C allele and CC genotype was higher in patients with asthma in comparison with the same allele and geno

Background: EOS (encoded by the IKZF4 gene) is a member of the zinc finger transcription factor IKaros family, and plays a critical role in Treg suppressor functions, and maintaining Treg stability. IL-6 is a soluble mediator with a pleiotropic effect on inflammation, immune response, and hematopoiesis. Aim: To estimate serum IL-6 level and EOS gene expression in Iraqi patients with psoriasis. Method: Twenty-two patients with psoriasis (8 females, 14 males) with age ranged 18-72 years, were recruited from Baghdad Teaching Hospital, Dermatology Clinic, Baghdad, and 24 healthy donors. The serum levels of IL-6 by ELISA and the gene expression of IKZF4 (EOS gene) by RT-qPCR technique. Results: The results showed a non-significant diffe

The expression of the Proprotein Convertase Subtilisin/Kexin Type 9 gene (PCSK9) is inextricably related to lipid levels and a risk of atherosclerotic coronary artery disease (ASCAD). The present study aims to measure the quantity of PCSK9 gene expression and the effect of methylation on its expression level taking part in the pathogenesis of acute coronary artery disorder.

A current study included 150 subjects from the Iraqi population, 100 ASCAD patients and 50 healthy controls. The concentration of PCSK9 in each serum sample was determined by the ELISA technique, the expression levels of the PCSK9 gene in whole blood were estimated by RT-qPCR – Quantitative Reverse Transcription PCR method, and DNA