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.
We report here the observation of 16 µm superradiance laser action generated from optical pumping of CF4 gas molecules (which is cooled to 140 Kº by a boil-off liquid-N2) by a TEA-CO2 laser 9R12 line. Output laser pulses of 7 mJ and 200 ns have been obtained.
Background Inflammatory bowel disease (IBD) is a lifestyle idiopathic, chronic, and inflammatory intestinal disorders that required long-term medications and care.
Aim of the study Assess the level of adiponectin in IBDU and its relation with different parameters like lipid profile and Body Mass Index (BMI).
Type of the study A case-controlled study.
Patients and methods The total number of study groups was sixty individuals, forty of them were patients with inflammatory bowel disease unclassified and the rest were control healthy subjects. Serums were examined for lipid profile (cholesterol, triglycer
Four species of insects, Carpophillus obsoletus Er., Carpophilus sp., Bitoma lycnformis Wall and Scatopse sp., were found in association with infected spathes of date palm with Mauginella scaettae Cav. The later fungus was the dominant species isolated in pure cultures both from diseased spathes and from contaminated insects. Bitoma lycriformis is the first record for Iraq.
Peripheral artery disease (PAD) is associated with increased oxidative stress and impaired endothelial function. Ticagrelor treatment improves antioxidant properties in addition to its antiplatelet effects. This study investigated the impact of Ticagrelor treatment on serum superoxide dismutase (SOD) levels and other biochemical parameters in PAD patients. It also evaluated the potential diagnostic accuracy and clinical utility of specific biomarkers based on receiver operating characteristic (ROC) analysis. Seventy individuals were categorized into healthy control (n=40), baseline PAD patients not on Ticagrelor (B-PAD, n=30), and same PAD patients after treated with Ticagrelor (A-PAD, n=30). Parameters measured included SOD concent
... Show MorePharmaceutical care is a patient-centered, outcomes oriented practice that requires the pharmacist to work in concert with the patient and the patient’s other healthcare providers to promote health, to prevent disease, and to assess, monitor, initiate, and modify medication use to assure that drug therapy regimens are safe and effective. In addition, the presence of clinical pharmacists has led to a higher quality of patient education and provision of complete detailed information for patients. In developed countries Pharm D has become the professional degree for practice of Pharmacy. The graduates will be enrolled in a pharmacy residency program; admission to the residency programs is available to Pharm D graduates of an accredit
... Show MoreAsthma is a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role. The treatment guidelines recommend theuse of a second controller drug in addition to medium doses of inhaled corticosteroids (ICSs) rather than the use of high doses ICS alone in the treatment of moderate-severe persistent asthma. This study was conducted to compare the clinical efficacy and safety of three treatment regimens in Iraqi patients with moderate-severe persistent asthma.The study included three groups; each group included 15 patients. Patients were administered beclomethasone inhaler alone 1500-2000 μg/day, beclomethasone inhaler 750-1000 μg/day plus oral controlled release aminophylline tablets 450 mg/day or
... Show MoreCeliac disease (CD) is an inflammatory small intestinal disorder that can lead to severe villous atrophy, and malabsorption . Since the measurement of α-amylase activity is the most widely used biochemical test for the diagnosis of pancreatic and non pancreatic disease , therefore serum α-amylase were studied in the present study in an attempt to evaluate the usefulness of this enzyme in the diagnosis of celiac disease and its relationship with anti gliadin IgA and IgG and serum glucose . Thirty one patients with celiac disease were studied and compared with twenty four healthy individuals . Significant elevation of α-amylase activity , glucose and anti gliadin IgA and IgG were observed in the sera of patients with celiac diseas
... Show MoreThis work deals with separation of the aromatic hydrocarbons benzene, toluene, and xylene (BTX) from reformate. The separation was examined using adsorption by molecular sieve zeolite 13X in a fixed bed process. The concentration of aromatic hydrocarbons in the influent and effluent streams was measured using gas chromatography. The effect of flow rate and bed length of adsorbent on the adsorption of multicomponent hydrocarbons and adsorption capacity of molecular sieve was studied. The tendency of aromatic hydrocarbons adsorption from reformate is in the order: benzene >toluene>xylenes.