Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.
Collagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlation be
... Show MoreObjective: To evaluate whether the SOX2 protein could be used as a predictor in patients with GC and to assessment the correlation between the IHC expression of the SOX2 protein and the various clinic pathological Parameters as age, sex, histopathological subtypes, grade and stage of the tumor by immune-histochemical Technique. This is a retrospective study conducted on 60 randomly selected patients (30) normal versus (30) GC, at the pathology department of the Gastroenterology and Hepatology Teaching Hospital & some private hospitals. It were collected and diagnosed during the period between from 2014 to 2018. From each block were stained with H&E and IHC stained for SOX2. The Statistical analysis was done using SPSS system, and the differ
... Show MoreAfter about twelve months or maybe more, some people can’t achieve pregnancy. This might be a sign of infertility as a reproductive system disease. The following study was carried out to investigate the DAZ 1 gene methylation level and its association with azoospermia in Iraqi patients. One hundred and fifty human blood samples were collected from from different regions in Baghdad governorate, including (private medicals Labs and the high institute for infertility diagnosis assisted reproductive techniques and Kamal Al- Samara'ay IVF Hospital) from both fertile and infertile men. The control group consists of 50 samples ranging from 22 to 51 years old, while the patient (infertile group) consists of 100 samples ranging between 25 and 51 y
... Show MoreInsulin-induced hyperglycemia is the hallmark of diabetes mellitus (DM), including various metabolic disorders. Diabetic people are more likely to develop dyslipidemia, hypertension, and obesity. Type 2 diabetes (T2DM), the most common illness, is generally asymptomatic in its early stages and can go misdiagnosed for years. Diabetes screening may be beneficial in some cases since early identification and treatment can lessen the burden of diabetes and its consequences. This study aimed to find the relationship between Glycated hemoglobin (HbA1c) and lipid profile components in T2DM patients. This descriptive-analytical and cross-sectional study was performed on the control group and T2DM patients in Medical City in Baghdad be
... Show MoreLeukemia or cancer of the blood is the most common childhood cancer, Acute lymphoblastic leukemia (ALL), is the most common form of leukemia that occurs in children. It is characterized by the presence of too many immature white blood cells in the child’s blood and bone marrow, Acute lymphoblastic leukemia can occur in adults too, treatment is different for children. Children with ALL develop symptoms related to infiltration of blasts in the bone marrow, lymphoid system, and extramedullary sites, such as the central nervous system (CNS). Common constitutional indications consist of fatigue (50%), pallor (25%), fever (60%), and weight loss (26%). Infiltration of blast cells in the marrow cavity and periosteum often lead to bone
... Show MoreCollagen triple helix repeat containing-1 (CTHRC1) is an essential marker for Rheumatoid Arthritis (RA), but its relationship with pro-inflammatory, anti-inflammatory, and inflammatory markers has been scantily covered in extant literature. To evaluate the level of CTHRC1 protein in the sera of 100 RA patients and 25 control and compare levels of tumour necrosis factor alpha (TNF-α), interleukin 10 (IL-10), RA disease activity (DAS28), and inflammatory factors. Higher significant serum levels of CTHRC1 (29.367 ng/ml), TNF-α (63.488 pg/ml), and IL-10 (67.1 pg/ml) were found in patient sera as compared to that in control sera (CTHRC1 = 15.732 ng/ml, TNF-α = 33.788 pg/ml, and IL-10 = 25.122 pg/ml). There was no significant correlati
... Show MoreThe present study aims to study the correlation between visfatin levels and metabolic syndrome in Iraqi obese adolescence (with and without metabolic syndrome) and its relation with other studied biochemical parameters. Sixty obese adolescences were depended in this study (with and without metabolic syndrome), compared with (30) non-obese children as control group. This study was done in the period from April 2020 until the end of December 2020, in the National Diabetes Centre/Mustansiriya University, Baghdad/Iraq. There were no significant differences in age, height, waist circumferences (WC), and diastolic blood pressure (DBP) in the patients' groups. In contrast, a significant increase differs (p<0.05) was recorded in the values of
... Show MoreRice is a major staple food for more than two thirds of the world population. Pathogenesis-related proteins-10 (PR10) have a range of 154 to 163 amino acid with molecular weight ~ 17 kDa. They are acidic and generally intracellular and cytosolic proteins accumulate in plants in response to biotic and abiotic stresses. In the present study, a PR10 gene and its corresponding protein were characterized in O. sativa, O. barthii, O. glaberrima, O. glumipatula, O. meridionalis, O. nivara, O. rufipogon and O. punctata. The results revealed a narrow range of variation at both DNA and protein levels in all examined species except O. glumipatula. The latter showed a relatively
... Show MoreBackground: Pleural effusion is a common clinical
problem.
Objective: The aim of the study was to evaluate the
diagnostic utility of Carcino embryonic antigen
(CEA), CA 15- 3, and alpha-feto protein ( AFP ) as
a tumor markers in serum and pleural effusion and
evaluate the value of combining them as a diagnostic
tools that are complementary to cytology in the
diagnosis of malignancies .
Methods: Forty patients (18 malignant and 22 benign
pleural effusion) were included in this study .The
serum and effusion levels of CEA, CA 15 – 3 and
AFP were measured using immunoradiometric assay
Results: from the 40 effusions studied 26 were
exudates and 14 were transudates. The level of
pleural effusions