Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic examination and assessment of GAA enzyme level, and genetic study by dried blood spot. Results: Thirty patients with confirmed Pompe disease were evaluated (12 males and 18 females), and the mean age of presentation was 3.7 months. The level of CK raged from 123 to 1471 (mean 614.3 ± 247), and the level of GAA activity ranged from 0.0 to 0.3 (mean 0.123 ± 0.07). All infants were homozygous for mutations in GAA. The most commonly encountered mutation was c.1314C>A. Conclusion: Pompe disease is an underestimated disease in Iraq, and the delay in the diagnosis results in established, irreversible myopathic changes even with enzyme replacement therapy and results in high mortality, so a high index of suspicion and early diagnosis will help to provide proper therapy and will help to provide a better quality of life for such patients
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
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Background: Periodontitis and Atherosclerosis Cardiovascular disease are chronic inflammatory diseases which are highly prevalent. During the last two decades, there has been an increasing interest in the impact of oral health on atherosclerosis and subsequent cardiovascular disease.Aims of the study wereto evaluate the periodontal health status in study groups (Atherosclerotic cardiovascular disease patients with chronic periodontitis and patients having chronic periodontitis),to estimate the serum levels of Matrixmetalloproteinase-8(MMP-8) and high sensitive C-reactive protein(hs CRP) in study and control groups and compare between them. Also,test the correlation between the serum levels of MMP-8 and hs CRP with clinical periodontal par
... Show MoreDisease responses of eight wheat cultivars , Saber Beg. , Abu-Ghraib 3, Mexipak , Tamoz 2,Tamoz 3 , IPA 95 ,IPA 99 and Tahadi which were grown in four different sowing date , 25 th October , 19th September , 14th December and 8 January , to leaf rust disease caused by Puccinia recondita were investigated under natural infection conditions at the experimental farm , College of Agriculture , Abu-Ghraib, during the growing season of 1997-1998.Results of this study revealed that IPA 95, IPA 99 and Tahadi showed moderate resistant reaction, while Tamuz 3 was moderateley susceptable . Abu-Ghraib , Saber Beg, Tamuz 2 and Mexipak showed susceptible yeaction to the causal agent . The first sowing date was not suitable for disease progress in compars
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Background: Parenteral nutrition (PN) is a life‑saving intervention for neonates who are unable to meet their nutritional requirements through enteral feeding. Despite its essential role, PN is frequently associated with metabolic, electrolyte, and hepatobiliary complications. Objective: To evaluate the frequency and pattern of metabolic, electrolyte, and hepatobiliary complications associated with PN administration in neonates. Methods: A prospective case-series study was conducted in two tertiary neonatal intensive care units (NICUs) in Baghdad, Iraq. Term and preterm neonates who received PN for at least five days were included. PN‑related metabolic, electrolyte, hepatobiliary, and hematological complications were recorded an
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Background: Pharmacists are essential in treating MS. Pharmacists' involvement and patient consultation may improve patient adherence and satisfaction. Aim: To evaluate the influence of pharmacist-led interventions (PLI) on medication adherence and satisfaction in patients with multiple sclerosis receiving disease-modifying therapies (DMTs). Methods: This study was conducted on patients with relapsing-remitting multiple sclerosis who were receiving DMTs and attended a neurological consultant clinic in the medical city of Baghdad. It was a pre-post-intervention study. Each patient underwent two educational sessions: the first session took place at the beginning of the study, after completing the Arabic version of the treatment satisfaction q
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig
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Background : The hepatopulmonary syndrome (HPS) is defined as the triad of liver disease, arterial deoxygenation, and pulmonary vascular dilatation. The reported prevalence of HPS in cirrhotic patients varies between 5% -17.5%.Objective : To estimate the prevalence of hepatopulmonary syndrome among patients with chronic liver disease and portal hypertension and to study the correlation between HPS and the severity of liver disease.Patients and methods : Thirty patients were studied for the presence of HPS using transthoracic contrast echocardiography for detection of pulmonary vasodilatation. Arterial oxygen saturation (SaO2) was determined in erect and supine position using a pulse oximeter , (SaO2 ≤ 92 % in supine position and/or a d
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