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.
The aim of this study was to establish the existence and interaction of TMPRSS2 – ERG gene fusion status with clinicopathological features of prostate cancer patients. This research consisted of 123 embedded formalin-fixed tissues obtained from the prostate tumor patients. The above gene fusion is detected through the technique of fluorescent in situ hybridization (FISH) by means of a triple color probe. Seven samples have not been scored due to technical difficulties and 46 patients have fusion (39.6%), while the remaining (70) have not been seen with fusion. Of the 46 fusion-positive, 17 (36%) were caused by ERG-translocation, of the other 29 (63%) were caused by the interstitial segment deletion between the two genes due to the
... Show MoreDuring pregnancy, high blood pressure disorder is the most common medical complication in pregnancy. It is the foremost cause of maternal mortality and perinatal diseases. Vascular endothelial growth factor (VEGF) affects the growth of vascular endothelial cells, existence, and multiplying, which are known to be expressed in the human placenta. This study aimed to identify the expression VEGF in the placenta of hypertension and normotensive women. In this study, a cross-sectional study from november 2019 to February 2020. A total of 100 placentae involved 50 hypertensive cases and 50 normotensive groups were assessed. VEGF-A expression in two placentas groups was evaluated by immunohistochemistry techniques. Strong and moderate VEGF
... Show MoreBackground: Osteoporosis (OP) is a prevalent age-related condition that increases the risk of fracture and bone fragility, as result loss of bone mass as well as micro-architectural degradation of the bone, thereby reducing the mass and strength of bone. Human β-defensin (HBD-3) is ananti-inflammatory peptide andcrucial part of the human innate immune system. Giving early therapeutic intervention for OP requires an early diagnosis. Objectives: To evaluate the serum HBD-3 accuracy of diagnosis in patients with osteoporosis. Methods: The study was conducted in the National Joint Center at Yarmouk Teaching Hospital in Baghdad during September - October 2023. Eighty participants were recruited, all of whom had clinical examinations an
... Show MoreAbstract:
Under the state scenario, fiscal policy will not be able to use the oil surpluses optimally and economically and society, as long as these surpluses are not directed by public expenditure towards new productive investments and by following the path of fiscal policy after one year 2003 and until 2013 we note that it is based on the method of spending (excessive) consumption, and did not take any action towards the budget deficit planned at the beginning of the fiscal year, and the actual surplus at the end of the fiscal year, which represents the highest expenditure in the budget, Salaries and wages of workers in various government agencies with the expansion of spending on the security side.&n
... Show MoreThe present study aims to estimating the prevalence of autoimmune thyroid disorders in Iraqi infertile women with polycystic ovary syndrome (PCOS). Eighty-five Iraqi women, with age range (19-45) years, were divided into three groups; first group included 33 women with PCOS; second group included 30 women without PCOS; while third group included 22 fertile women as controls. The clinical data [age, body mass index (BMI), and menstrual status] have been recorded. Blood samples were collected to determine the levels of reproductive hormones [estradiol (E2), luteinizing hormone (LH), and follicle stimulating hormone (FSH)]; and thyroid hormones [triiodothyronine (T3) and thyroxin (T4)]. Also, autoimmune thyroid antibodies assessment h
... Show MoreBACKGROUND: Idiopathic immune thrombocytopenia purpura is an autoimmune bleeding disorder that accounts for approximately one-third of clinical hemorrhagic diseases. Pathophysiologically, it involves a complicated imbalance in the immune system. OBJECTIVES: This study focuses on evaluating the levels of the immunomodulatory cytokines interleukin (IL)-35, interleukin-10, and transforming growth factor-β (TGF)-β in patients with refractory idiopathic immune thrombocytopenia undergoing treatment with romiplostim. MATERIALS AND METHODS: A cross-sectional study encompassed 78 individuals with idiopathic immune thrombocytopenia and conducted measurements of different immunomodulatory cytokines in response to different responses of idiopath
... Show MoreThe most common cause of death is cardiovascular disease (CVD), with ischemic heart disease being the most notable type. There is a propensity to raise the sensitivity of methods in contemporary laboratory for diagnosing of CVD, and assessing key as CVD bio-indicators. The urgent task is to seek for different indicators as a hopeful tool for early detection and monitoring of myocardial infarction in blood samples only. This study comprised 117 Volunteers, recorded with both genders in the age range of 32-64 years old. The volunteers were categorized into two groups: 67patients of myocardial infarction, other group embraced 50 healthy individuals. The samples of blood were collected and directed for biochemical analysis to evaluate estr
... Show MoreTafsir, ‘interpretation’ is one of the most important sciences the Muslims need. Because Allah, Almighty, revealed the Qur’an to be a way of life for the Muslims in which the healing of what is in the chest, including their goodness and their peasant. Allah says:
“O people, an admonition has indeed come to you from your Lord and a healing for what is in the hearts; and a guidance and a mercy for the believers.”
In order to achieve the goal for which God revealed the Quran must be understood and managed verses:” This is a Book that We have revealed to you abounding in good, that they may ponder over its verses, and that those who have understanding may be mindful.”
The Prophet (PBUH) and his companions understood t