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.
Background: Guillain Barré syndrome is an acute inflammatory demyelinating disease of the peripheral nerves. Its synonyms are: acute inflammatory demyelinating polyradiculoneuropathy, idiopathic polyneuritis, acute infective polyneuropathy and post infections polyneuritis. Objectives: We attempt to study the clinical presentations and complications in patients with GBS who were admitted to children welfare Teaching Hospital and to compare the results with the other studies.Type of the study: A retrospective study.Methods: A study done on seventy patients with GBS who were admitted to children Welfare Teaching Hospital in Medical City-Baghdad from different parts of Iraq between January 2002-December 2006.Results: Forty (57.14%) of them
... Show MoreNew, simple and sensitive batch and reverse FIA spectrophotometric methods for the determination of doxycycline hyclate in pure form and in pharmaceutical preparations were proposed. These methods based on oxidative coupling reaction between doxycycline hyclate and 3-methylbenzothiazolinone-2-hydrazone hydrochloride (MBTH) in the presence ammonium ceric sulfate in acidic medium, to form green water-soluble dye that is stable and has a maximum absorbance at 626 nm. A calibration graph shows that a Beer's law is obeyed over the concentration range of 1-80 and 0.5-110 ?g.mL-1 of DCH for the batch and rFIA respectively with detection limit of 0.325 ?g.mL-1 of DCH for r-FIA methods. All different chemicals and physical experimental paramete
... Show MoreKE Sharquie, AA Al-Nuaimy, WJ Kadhum, Saudi medical journal, 2006 - Cited by 3
For a mathematical model the local bifurcation like pitchfork, transcritical and saddle node occurrence condition is defined in this paper. With the existing of toxicity and harvesting in predator and prey it consist of stage-structured. Near the positive equilibrium point of mathematical model on the Hopf bifurcation with particular emphasis it established. Near the equilibrium point E0 the transcritical bifurcation occurs it is described with analysis. And it shown that at equilibrium points E1 and E2 happened the occurrence of saddle-node bifurcation. At each point the pitch fork bifurcation occurrence is not happened.
Pseudomonas aeruginosa is an opportunistic pathogen responsible for serious infections. At least three different exopolysaccharides, alginate, polysaccharide synthesis locus (Psl), and pellicle exopolysaccharide (Pel) make up the biofilm matrix in P. aeruginosa . The effect of temperature on the biofilm formation and gene expression was examined by microtiter plate and real-time quantitative polymerase chain reaction (qRT-PCR). To be able to determine the effect of temperature on biofilm formation and gene expression of P. aeruginosa, 303 clinical and environmental samples were collected. Pseudomonas aeruginosa was isolated from 61 (20.1%) and 48 (15.8%) of the clinical and e
... Show MoreBACKGROUND: Preeclampsia (PE) is a possible etiology of obstetrical and neonatal complications which are increased in resource-limited settings and developing countries. AIM: We aimed to find out the prevalence of PE in Iraqi ladies and specific outcomes, including gestational weight gain (GWG), cesarean section (CS), preterm delivery (PD), and low birth weight (LBW). METHODS: All singleton pregnant women visiting our tertiary center for delivery were involved over 3 years. PE women were compared with non-PE ladies. Complete history and examination were done during pregnancy and after delivery by the attending obstetrician and neonatologist with full documentation in medical records. RESULTS: PE prevalence was 4.79
... Show MoreKE Sharquie, SA Al-Mashhadani, AA Noaimi, WM Katof, THE IRAQI POSTGRADUATE MEDICAL JOURNAL, 2013 - Cited by 6
Trigeminal Neuralgia (TN) is one of the most commonly painful cranial neuralgia characterized by paroxysmal attacks as short lasting facial pain along the trigeminal nerve branches. The aim of the present study is to innovate a biochemical relationship between (melatonin, GALNT12 and Zn) and TN and also to examine the biochemical action of tegretol (carbamazepine) as a treatment on the above biochemical parameters. Blood samples were collected from fifty four (54) trigeminal neuralgia patients diagnosed by magnetic radiation image (MRI). Patients were classified into four groups: G3 (40- 70) years composed of (12) diagnosed male (without treatment), G4 (48- 75) years composed of (12) diagnosed female (without treatment), G5 (34- 76)
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