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.
Mansuriya Gas field is an elongated anticlinal structure aligned from NW to SE, about 25 km long and 5-6 km wide. Jeribe formation is considered the main reservoir where it contains condensate fluid and has a uniform thickness of about 60 m. The reservoir is significantly over-pressured, (TPOC, 2014).
This research is about well logs analysis, which involves the determination of Archie petrophysical parameters, water saturation, porosity, permeability and lithology. The interpretations and cross plots are done using Interactive Petrophysics (IP) V3.5 software.
The rock parameters (a, m and n) values are important in determining the water saturation where (m) can be calcul
... Show MoreABSTRACT Background: Viral hepatitis places a heavy burden on the health care. Large number of patient with bleeding disorders has chronic hepatitis C infection, while few are chronic carriers of hepatitis B virus. Aims of study: evaluate the prevalence of HBV, HCV infection among patient with Von Willebrand disease and to find factors that associated with the chance of getting the infection.
Toxoplasmosis is a widespread infection usually caused by Toxoplasma gondii (T. gondii) parasite. It occurs in humans and other warm blooded animals, causing severe problems. It was found that there is an alteration in the trace elements concentrations levels associated with some human diseases. This study aimed to investigate the changes in the concentrations of some trace elements (Mg, Fe , Zn, and Cu) in the sera of 60 immunocompetent patients with chronic toxoplasmosis and 82 healthy individuals as a control group. Measuring the serum level of seropositivity rate of anti-T. gondii antibodies was done by Enzyme Linked Immunosorbent Assay (ELISA) Kit, while the concentrations of trace elements were measured by absorption spectrophotometry
... Show MoreThe aim of this study was to assess the effectiveness of listening to music or Quran in reducing cancer patients’ anxiety before chemotherapy administration. Reducing anxiety in people with cancer, prior to chemotherapy administration, is a crucial goal in nursing care.
An experimental comparative study was conducted.
A simple randomization sampling method was applied. Two hundred thirty‐eight people with cancer who underwent chemotherapy were participated. They are assigned as Quran, music and control groups.
Esculin (ESCN) is used in the pharmaceutical industry with intravenous effect, stimulant and anti-inflammatory capillaries, like vitamin P. It is a significant component of many anti-inflammatory remedies such as esqusan, esflazid and anavenol [14]. It is also found in numerous other remedies available in the market such as proctosone, anustat, and ariproct.
To determine experimental conditions, to elucidate retention behavior of esculin in HILIC mode. Moreover, to suggest new ways to separate and determinate esculin in ointments.
Two hydrophilic c
Coeliac disease is an immunologically mediated disease of the small intestinal mucosa, characterized by flattening of the small intestinal villi, increased numbers of intra-epithelial lymphocytes and inflammatory cell infiltrates in the lamina propria, resulting in gut damage and nonspecific malabsorption of nutrients. The disease is elicited by ingestion of gluten, a protein found in several cereals, principally wheat, but also barley and to a lesser extent, oats. Successful treatment is avoidance of dietary gluten. Long-standing evidence suggests a T-cell-mediated response to peptides derived from the gliadin fraction of wheat gluten, leading to immunologically mediated intestinal injury in genetically susceptible individuals. The
... Show MoreAbstract: Choosing suitable artificial teeth for partially edentulous patients and arranging these teeth in a way to look natural is difficult. An important factor in dentures construction is the mesiodistal width of anterior teeth, because a denture would not appearance natural if artificial teeth are of incorrect size. While for a successful orthodontic treatment, mesiodeistal width of teeth is important for space analysis and for establishing proper occlusion. The aim of this study is to determine the correlation between the average mesiodistal width of anterior and posterior teeth in male and female Iraqi population. 40 Iraqi subjects with normal occlusion participated in this study. Mesiodistal measurement of all teeth was carried out
... Show MoreOsteoporosis (OP) is a systemic skeletal disease characterized by low bone mineral density and deterioration of bone architecture, resulting in bone strength reduction and increased fracture susceptibility. Estrogen deficiency in post-menopausal women is possibly responsible for the instability between bone formation and resorption, which is managed by specific osteoclastogenic cytokines that may be leading to resorption. This study aims to estimation of the concentrations of interleukins −8, −17, −22, beside to certain parameters in blood serum and explained their roles in the development of osteoporosis pathogenicity in postmenopausal women. Materials and Methods A case-control study included 108 Iraqi postmenopausal women participa
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