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
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The present study aimed to evaluate the levels of total immunoglobulin E and percentage count of eosinophil in some of allergic disease. Blood sample collected from 210 patients (110 female, 100 male) with allergic disease (allergic asthma, allergic rhinitis, and urticaria) their age between 10-70 years and 50 healthy control their age between 23-52 years. A highly significant (P<0.01) increase in the mean serum total IgE in patients with asthma (503.54 ± 63.49 IU/ml), Allergic rhinitis (442.77 ± 95.76 IU/ml) and urticaria (489.53 ± 69.68 IU/ml) as a compared with healthy controls (23.67 ± 5.81 IU/ml).There was a significant difference in percentage count of eosinophil in patients groups allergic asthma 4.37 ± 0.52% ,allergic rhinitis
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This study, which was conducted in the city of Mosul, through collected 1200 samples from the stool of patients with diarrhea attending hospitals and private clinics for the period from the beginning of January 2019 to the end of December 2019, those whose ages ranged from less than a year-60 year, and for both sexes and by reality 700 samples stool for males and 500 samples stool for females. Samples were collected in clean, sterile, and sealed 40ml plastic bottles. Patient information is noted, name of the parasite, history, sex, age, address. The result showed that climate and temperature have a significant effect on increase the incidence of intestinal parasites through the direct effect on the increase in infection rate. This effect wa
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The present study aims at assessing the effects of chronic kidney disease (CKD) on thyroid hormone and leptin by evaluating the level of: leptin hormone along with thyroid hormone in CKD patients. The study has been conducted on 70 subjects, 50 patients with an age range between 20-50 years (25 males and 25 females) who were diagnosed to have CKD stage-5, and 20 normal controls whose ages ranged between 20-48 years (10 males and 10 females), who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq from April 2018 to July 2018. The study showed a highly significant (P<0.01) increase in TSH level in CKD patients in comparison with controls. While T3 and T4 levels observed highly significant decrea
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This study was conducted to investigate thyroid function and Anti-Müllerian hormone (AMH) in (Chronic kidney disease) CKD patients by evaluating their levels in CKD patients, 50 patients were diagnosed to have CKD stage-5, their ages ranged between 20-50 years (25 males and 25 females) who attended the Nephrology and Transplant Center in Medical City of Baghdad- Iraq, they were recruited from April 2018 to July 2018 and were enrolled into the study. The control group consisted of 20 healthy individuals, their ages ranged between 20-48 years (10 males and 10 females). The study showed non-significant (p>0.05) increase in AMH level in CKD patients compared to the control group. On the other hand, TSH was recorded a highly significant (
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Background: Coronavirus disease 2019 (COVID-19) is an emerging zoonotic disease caused by the new respiratory virus SARS-CoV2. It has a tropism in the lung tissues where excess target receptors exist. Periostin plays a role in subepithelial fibrosis associated with bronchial asthma. Since the Coronavirus's target is the human respiratory system, Periostin has been recently described as a valuable new biomarker in the diagnosis and evaluation of disease in patients with COVID-19 lung involvement. Objectives: To assess the level of Periostin in the serum of COVID-19 patients and to correlate its role in disease severity and prognosis. Subjects and Methods: Periostin serum levels were measured for 63 patients attending three main COVID
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The study aimed to investigate the role of Dectin-1 and Card-9 in pathogenicity of inflammatory bowel disease (IBD). This investigations involved 150 blood samples for IBD patients which divided in to two groups (50 for crohns disease CD (G2) and 50 for ulcerative colitis UC (G3)). All a apparently (male and female) attended to) Al-Kindy hospital) in Baghdad city, department of Gastroenterology. and all of thin were diagnosis by consulters medical staff and pathologists with age range 15-65years average 40 years. in addition to 50 blood samples were collected from apparently healthy individuals as control group (G1). 10 ml were withdrawn from all participants, 5ml for the immunological study which carried by ELISA technique and 5 ml used fo
... Show MoreBackground:Parkinson’disease(PD) is a neurodegenerative disorder of the central nervous system characterized by resting tremor, bradykinesia, cogwheel rigidity, and impairment of postural reflexes; the frequency of PD increases with aging.Clinically Parkinson's disease characterized by two groups of symptoms: motor and non-motor symptoms.Non-motor symptoms can be categorized as autonomic, cognitive/psychiatric (may include depression, dementia, anxiety, hallucinations), sensory and rapid eye movements (REM) sleep behavior disorder (RBD).
Objectives:The objectives of this study are to find out the frequency of the non-motor symptoms of idiopathic Parkinson disease in a group of patients in Baghd
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