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
Adenosine deaminase (ADA; Ec: 3.5.4.4), 5´- Nucleotidase (5´– NT; Ec: 3.1.3.5), and AMP – amino hydrolase (AMP – deaminase AMPDA; Ec: 3.5.4.6) activities were measured in sera of ovarian cancer patients before surgery, and after chemotherapy. The results indicated that ADA specific activity increased significantly (P<0.05), while 5´-NT and AMPDA specific activity decreased significantly (P<0.05) in ovarian cancer patients before surgery in comparison with those of their corresponding control women and benign tumors groups. When the activities of these enzymes were measured after chemotherapy, a significant decrease (P<0.05) in ADA activity, and a significant increase (P<0.05) in 5´- NT and AMPDA activities w
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Al-Yusifia river was assessed at three sampling stations with study period from Autumn 2010 to the end of Summer 2011. The present investigation was carried out on diversity of fungi and bacteria from Al-Yusifia river, Baghdad city. During the study, a total of 12 fungal genus and 6 bacterial genus were isolated during the year seasons. The dominant fungus at the three stations were Penicillium sp., then Rhizopus and Trichophyton megninii while the dominant bacteria was Escherichia coli and Klebsiella sp.
The higher
... Show MoreLimitations of the conventional diagnostic techniques urged researchers to seek novel methods to predict, diagnose, and monitor periodontal disease. Use of the biomarkers available in oral fluids could be a revolutionary surrogate for the manual probing/diagnostic radiograph. Several salivary biomarkers have the potential to accurately discriminate periodontal health and disease. This study aimed to determine the diagnostic sensitivity and specificity of salivary interleukin (IL)‐17, receptor activator of nuclear factor‐κB ligand (RANKL), osteoprotegerin (OPG), RANKL/OPG for differentiating (1) periodontal health from disease and (2) stable a
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This study designed to examine association between-174G/C polymorphism of interleukin-6 gene and phosphate, calcium, vitamin D3, and parathyroid hormone levels in Iraqi patient with chronic kidney disease on maintenance hemodialysis. Seventy chronic renal failure patients (patients group) and 20 healthy subjects (control group) were genotyped for interleukin-6 polymorphism and genotyping was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. No significant differences in phosphate levels were observed in patients and control with different interleukin-6 genotypes. Control had non-significant differences in calcium levels, while patients with GG and CG genotypes displayed significant e
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Background: Impacted teeth are frequent problem and one of the most affected teeth is the maxillary canine. The early diagnosis of impacted canines by radiographic evaluation is imperative. The aim of this study was to determine the prevalence of impacted maxillary canines in patients attending the Oral diagnosis and Radiology clinic in College of Dentistry, University of Al-Basrah. Materials and Methods: 1280 patients attending the Oral Diagnosis and Radiology clinic in College of Dentistry University of Al-Basrah, between October 2013 and March 2015 were examined for the study. The age of the patients ranged from 15 to 55 years, with a mean age of 22.2 years. Results: The prevalence for maxillary impacted canines in all the cases was fo
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AbstractBackground:Psoriasis is an inflammatorydiseasewhichcan be associated with otherdiseases, which may have amajor impact onpatientslife. Psoriasis has also been reported tobe associated with metabolic disorders.Metabolic syndrome(MS)isa combination ofmedicaldisorders that, when occurring together,increasesthe risk of development ofcardiovasculardiseasesanddiabetes.It affectsone in five people in the United States andtheprevalence increases with age. Some studieshave showntheprevalencein the USA to be anestimated 25% of the population.Objective:To investigate the prevalence ofmetabolic syndrome in patients with psoriasis.Methods: We performed a hospital-based case-
This paper and research paper analyzes the critical methodology of "Ali Khan Joommal “ about the Bible , directed in most of the textual criticism of the Torah, and its highest criticism is directed to both the Old and New Testaments.
Joommal was distinguished by the mental methods and examples accompanying his era, while maintaining the general context in which Muslim scholars had previously followed, and he was distinguished from them by his many citations to the Western literature of Jews or Christians, in short it is a critical phenomenon worthy of study and evaluation.
MT Abed, ALSG Irhayyim, TH Rija, International Journal of Psychosocial Rehabilitation, 2020 - Cited by 1