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
ABSTRACT : Alzheimer’s disease (AD) is one of the most common inflammatory neurodegenerative diseases linked with dementia, it is characterized by the deposition of amyloid beta-peptide (Ab) in the brain. The present study aims to innovate a biochemical relationship between AD and interleukin 38 (IL-38) as an anti-inflammatory cytokine, expose novel mechanisms and concepts regarding other biochemical parameters studied previously or recently in AD patients and also examine the biochemical action of memantine (10 mg daily) on AD patients. Sixty (60) diagnosed AD patients participated in the present study and classified into four (4) groups: G3 were composed of (15) newly diagnosed males (52-78) years / without treatment, G4 composed of (15
... Show MoreIntroduction Periodontal diseases are ranked among the most common health problems affecting mankind. These conditions are initiated by bacterial biofilm, which is further modulated by several risk factors. Objectives To investigate the association of different risk factors with periodontal...
Hypertension is a major health problem throughout the world because of its high prevalence and its association with increased risk of cardiovascular diseases. It is defined as systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg. The aim of this study was to compare the efficacy, safety and cardiovascular disease risk lowering ability, of three antihypertensive drug regimens.
A retrospective study was carried out on 66 hypertensive patients, divided in to three groups based on their antihypertensive drug regimens (ACE inhibitors, β-blockers treated and combination antihypertensive therapy, the combination therapy consist of two or more of the following antihypertensive drugs ACE inhibitor di
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The present study has examined the spatiotemporal varieties of the demographics of the Shatt Al-Arab River fishes and their relation to some ecological components. The aim is to forecast these groups in the unexplored parts of the waterway with an emphasis on environmental indices of diversity. Three sites in the river were selected as an observation and study of these species, which lasted from March 2019 to February 2020, the study dealt with factors affecting fishes, as Water Temperature (WT), Dissolved Oxygen (DO), Potential Hydrogen Ion (pH), Salinity (Sal), and Transparency (Tra). Gill nets, cast nets, hooks, and hand nets were adopted to collecting fish. The results indicated that the fish population comprises 60 species represent
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This study aims to investigate the possible role of circulating microRNA-142-3p (miR-142-3p) in the
development of graves disease (GD) and its association with the antibody directed against thyroid
stimulating hormone receptor (TSHR-Ab) production in patients with GD. Forty patients with positive
TSHR-Ab enrolled in this study were divided ,based on treatment, into (22 untreated (newly diagnosed) and
18 treated patients) and based on family history (30 with positive family history and 10 with negative family
history). In addition to forty healthy subjects with sex and age matching as a control group. The expression
level of circulating miR-142-3p was determined by two steps reverse transcription polymerase c
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Background: The association between oral microbial infection and systemic disease is not a new concept. A major confounding issue is that oral infections often are only one of the many important factors that can influence systemic diseases .Objective: This study was conducted to evaluate the periodontal health status of patients with acquired coronary heart disease. Type of the study: Cross-sectional study.Methods: The study group consisted of 200 patients with an age range (35-70) years, having coronary heart disease .This study group were compared to a control group of non-coronary heart disease (200 individuals ) matching with age and gender. The oral parameters were examined including the periodontal conditions, assessment of periodo
... Show MoreBiomarkers to detect Alzheimer’s disease (AD) would enable patients to gain access to appropriate services and may facilitate the development of new therapies. Given the large numbers of people affected by AD, there is a need for a low-cost, easy to use method to detect AD patients. Potentially, the electroencephalogram (EEG) can play a valuable role in this, but at present no single EEG biomarker is robust enough for use in practice. This study aims to provide a methodological framework for the development of robust EEG biomarkers to detect AD with a clinically acceptable performance by exploiting the combined strengths of key biomarkers. A large number of existing and novel EEG biomarkers associated with slowing of EEG, reductio
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