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
The study of determing Uranium concentration in samples of teeth is the first of its kind in the Iraq . In this study Uranium concentration has been measured was (32) samples of child teeth distributed on the some of middle and south governorate of Iraq (Muthana – Dekar – Basrah – Najaf – Karbalah – Waset – Babel – Baghdad) . The Uranium concentration in teeth samples has been measured by using fission tracks registration in (CR-39) track detector that caused by the bombardment of (U235) with thermal neutrons falx from (24Am.Be) neutron source that has flux of (5x103n.cm-2S-1). The result obtained show that the Uranium concentrations in governorates were (0.18ppm), (0.172ppm), (0.160ppm), 0.150ppm) (0.89ppm), (0.07ppm) , (0.
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Information on the scorpions' fauna of Iraq is limited especially in Thi Qar Province. The scorpion specimens of the present study were collected from the desert area which is located between the provinces of Thi Qar and Al-Muthana (Al-Kata'a region). The Scorpio kruglovi (Birula, 1910) redescribed in this study was found in this area. The diagnostic characters are given and the important features are figured.
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The present study evaluates the effects of Ginkgo biloba extract as monotherapy on the glycemic status, insulin resistance (IR), body mass index (BMI), and visceral adiposity index (VAI), in addition to the inflammatory markers, oxidative status and leptin level in patients with metabolic syndrome in comparison with metformin.
The study is a randomized, double-blind pilot study conducted during the period May to September, 2020. Fifty patients were recruited in the study and they were allocated into two groups (25 per each group): Ginkgo biloba and Metformin groups, they received (120 mg Ginkgo biloba extract/ capsule) and (500 mg Metformin/ capsule) respectively; orally as a single dose for 90 days. Blood samples were taken at z
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Records of two regionalized variables were processed for each of porosity and permeability of reservoir rocks in Zubair Formation (Zb-109) south Iraq as an indication of the most important reservoir property which is the homogeneity , considering their important results in criterion most needed for primary and enhanced oil reservoir .Z and F tests that were calculated for the two above mentioned properties of pair units of Zubair Formation have shown the difference in depositional energy and different diagenesis between units IL and AB , DJ and AB , and the similarity in grains size , sorting degree , depositional environment and pressure gradients between IL and AB units , LS and IL units ; also the difference in the properties above betw
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Olfactory impairment and abnormal frontal EEG oscillations are recognized as early markers of Alzheimer’s disease (AD). Using a publicly available olfactory EEG dataset of 35 subjects spanning normal cognition, amnestic mild cognitive impairment (aMCI), and AD, each with MMSE scores and demographics, stimulus-locked epochs from four electrodes (Fp1, Fz, Cz, Pz) were processed with wavelet-based time–frequency analysis. Band-limited power ratios (delta, theta, alpha, beta) were computed as log-transformed post-odor/baseline values and aggregated to subject-level features. Statistical analyses revealed graded attenuation of odor-evoked frontal (Fp1) band-power ratios across groups, with significant differences in several band–od
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Globally, chronic kidney disease (CKD) has emerged as a significant public health concern, characterized by high rates of morbidity and mortality. To assess the risk of kidney damage, researchers have identified tissue inhibitor of matrix metalloproteinase-2 (TIMP-2) and fatty acid-binding protein-1 (FABP-1) as valuable biomarkers. This study aims to analyse the effectiveness of specific biomarkers in assessing CKD and its associated mechanisms in Iraqi patients. The study was conducted from December 2023 to May 2024. Ninety subjects, aged 48–65 years; including 60 patients with CKD (38 male and 22 female) attended the Baghdad Teaching Hospital/ Medical City/ Dialysis Unit- Baghdad, Iraq. In addition, 30 healthy people (15 male an
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Background: The adenomatoid odontogenic tumor is a relatively rare benign epithelial odontogenic tumor. It contains both epithelial and mesenchymal components. Few cases presented as an extrafollicular lesion or involve the mandible or associated with other odontogenic lesions. This paper represents a rare case of an extrafollicular AOT. Case presentation: A 24-year-old female had a painless swelling on the right side of the lower jaw since one-month duration. Intraorally there was a well defined fluctuant-blue swelling in the right alveolar premolar region measuring 1×2 cm obliterating the right lower buccal vestibule. Grade II mobility in the vital 44 and 45 teeth were observed. Panoramic radiographs showed a well-defined pear shaped
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Objective: Rheumatoid arthritis (RA) patients have increased morbidity and mortality from premature cardiovascular (CV) disease (CVD). Framingham risk score (FRS) is a simplified coronary prediction tool developed to enable clinicians to assess the risk of a cardiovascular event and to identify candidate patients for risk factors modifications worldwide. The predictive ability of the FRS varies between populations, ethnic groups, and socio-economic status. The aim of this study is to find if there is any correlation between the Framingham risk score and the inflammatory and biochemical parameters used to measure disease activity and functional ability in Iraqi patients with active RA.
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Anaemia is a common extra-articular manifestation of rheumatoid arthritis (RA) where anaemia of chronic disease (ACD) and iron deficiency anaemia (IDA) are the two most frequent types. The distinction between these two types of anaemia has always been challenging requiring sophisticated techniques. Serum transferrin receptor (sTfR) a truncated soluble form of the transferrin receptor is one of the parameters that is influenced by the Iron content and supply to the erythrons and is not affected by inflammatory status and therefore the use of the sTfR/log ferritin (sTfR-F) index can be a reliable indicator of functional iron deficiency.
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