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 extraction of Eucalyptus oil from Iraqi Eucalyptus Camadulensis leaves was studded using water distillation methods. The amount of Eucalyptus oil has been determined in a variety of extraction temperature and agitation speed. The effect of water to Eucalyptus leaves (solvent to solid) ratio and particle size of Eucalyptus leaves has been studied in order to evaluate the amount of Eucalyptus oil. The optimum experimental condition for the Eucalyptus oil extraction was established as follows: 100˚C extraction temperature, 200 rpm agitation speed; 0.5 cm leave particle size and 6:1 ml: g amount of water to eucalyptus leaves Ratio.
The increase in the Iraqi population put pressure on urban cities as there were no new cities built since the 1980s due to the wars and the economic blockade imposed in 1991 and the deteriorating security situation after 2003, where the population in 2018 reached about forty million people. Iraq also suffered during the past decades from problems and challenges in many respects that affected the local environment, and the constructed buildings had a role in increasing these impacts, so the Ministry of Housing worked to issue the Iraqi Green Architecture Code in 2019 to reduce damage to the environment and use resources more efficiently. And because the constructed buildings were not constructed according to green standards, including Bas
... Show MoreBackground: The highest concentrations of
blood glucose during the day are usually found
postprandialy. Postprandial hyperglycemia (PPH)
is likely to promote or aggravate fasting
hyperglycemia. Evidence in recent years suggests
that PPH may play an important role in functional
& structural disturbances in different body organs
particularly the cardiovascular system.
Objective: To evaluate the effect of (PPH) as a
risk factor for coronary Heart disease in Type 2
diabetic patients.
Methods: Sixty-three type2 diabetic patients
were included in this study. All have controlled
fasting blood glucose, with HbA1c correlation.
They were all followed for five months period
(from May to October 2008)
Foreign body embolization is a rare but serious iatrogenic complication that might necessitate transcatheter or even surgical retrieval. A broken double-lumen catheter was snared using a goose neck snare kit. The procedure was successful, and the patient experienced no further complications.
Schiff bases are versatile compounds synthesized from the condensation of primary amino compounds with aldehydes or ketones. The high thermal of many Schiff base and their complexes were useful attributes for their application as catalysts in reactions involving at high temperatures. This thermal behavior of Schiff bases and their complexes was evaluated by TGA/DTG and DTA curves with 10 mass losses related to dehydration and decomposition. This review summarizes the developments in the last decade for thermal analysis of Schiff bases. Therefore, synthesis of Schiff bases and their complexes are reviewe
We investigate mathematical models of the Hepatitis B and C viruses in the study, considering vaccination effects into account. By utilising fractional and ordinary differential equations, we prove the existence of equilibrium and the well-posedness of the solution. We prove worldwide stability with respect to the fundamental reproduction number. Our numerical techniques highlight the biological relevance and highlight the effect of fractional derivatives on temporal behaviour. We illustrate the relationships among susceptible, immunised, and infected populations in our epidemiological model. Using comprehensive numerical simulations, we analyse the effects of fractional derivatives and highlight solution behaviours. Subsequent investigatio
... Show MoreCompression study of Irisin, Vitamin D and Kidney Function Parameters Between Iraqi Fracture Patients with and Without DM2 and Healthy Control, Omar Yousif Majnun*, Altaie AF
A new derivative of PAM, acrylamide was copolymerized with succinic anhydride, and the reaction product reacted with three dyes, anthocyanin, bromophenol, and thymol. The prepared polymers were characterized by X-ray diffraction, FT-IR and UV-visible spectroscopy, proton nuclear magnetic resonance spectrometry, and thermal analysis. FT-IR spectroscopy showed the disappearance of two bands near 3450 and 3380 cm-1 for the stretching vibrations of the primary amine which indicates for the formation of amides. The UV-photolysis of aqueous solutions of different concentrations of the polymers was studied. Polyacrylamide-g-succinic anhydride showed an increase in polymerization under light. An increase of ~ 50% was observed for a 200 mg/L
... Show MoreBackground: The main purpose of this study is to find if there is any correlation between the level of C-reactive protein (CRP) in gingival crevicular fluid with its serum level in chronic periodontitis patients and to explore the differences between them according to the probing depth. Materials and methods: Forty seven male subjects enrolled in this study. Thirty males with chronic periodontitis considered as study group whom further subdivided according to probing depth into subgroup 1 with pocket depth ≤6mm, subgroup 2 with pocket depth >6mm. The other 17 subjects considered as controls. For all subjects, clinical examination where done for periodontal parameters plaque index (PLI), gingival index (GI), bleeding on probing (BOP),
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