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
Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were reported all over the world. Here, I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Neuroimaging confi
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The current study is a taxonomic account of three gastrotrich species that belong to Chaetonotidae (Phylum Gastrotricha) namely Ichthydium auritum Brunson, 1950 Lepidodermella squamata (Dujardin, 1841) and Chaetonotus anomalus Brunson, 1950. These species are registered as a new record from Iraq and were collected from several locations along the main outfall drain (MOD) in south of Baghdad, from January to December 2020. The species described in this article were found to be related to Hydrilla and Ceratophyllum and prefer environments rich in detritus and decomposing organic matter. The worms preferred water that is salty, hard, alkaline, and had good oxygen content.
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This study aims to determine the prevalence of Entamoeba histolytica, Entamoeba dispar and
Entamoeba moshkovskii by three methods of diagnosis (microscopic examination, cultivation and PCR) that
were compared to obtain an accurate diagnosis of Entamoeba spp. during amoebiasis. Total (n=150) stool
samples related to patients were (n = 100) and healthy controls (n= 50). Clinically diagnosed stool samples
(n=100) were collected from patients attending the consultant clinics of different hospitals in Basrah during
the period from January 2018 to January 2019. The results showed that 60% of collected samples were
positive in a direct microscopic examination. All samples were cultivated on different media; the Bra
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In order to find the relationship between Helicobacter pylori infection and hematological disease are disorders which primarily affect the blood and blood-forming organs. One hundred and three blood samples were taken for people aged (20-68) years for the period from 10/1/2021 to 1/3/2022, divided into three groups. The first group included 44-person H. pylori-infected with symptoms of infection, the second group had 19-person H. pylori-infected but without symptoms, and the third group included 40 people without H. pylori infection. All studied groups were carried out to measure anti-IgG Ab, Vac A and Ferritin by Enzyme Linked Immunosorbent Assay (ELISA) technique. The statistical analysis indicates a non-significant difference in Vac A (p
... Show MoreThe effects of temperature on an exotic aquatic snail Pomacea canaliculata (Lamarck, 1819) collected from the Shatt Al-Arab intertidal zone were investigated. A series of laboratory experiments were conducted during the summer period of 2017. Individuals of new born snails hatched in the laboratory from adult snails were collected from Shatt Al-Arab intertidal zone, and subjected to five fixed temperatures: 15, 25, 35, 40 and 45 Cº, after short term thermal acclimation. The heartbeats (HB) were counted at each temperature level. The results showed significant direct increase of HB from 15 Cº (19.8 HB/min) up to 25 Cº (76 HB/min) (P<0.05) as well as from 25 Cº to 35 Cº (93 HB/min). At 40 Cº the snail HB
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BACKGROUND: Polycystic ovary syndrome(PCOS) is one of the most common endocrine disorder affecting women in reproductive age. No single etiologic factor fully accounts for the spectrum of abnormalities in the polycystic ovary syndrome. Different changes in hormonal, metabolism and the inflammatory markers as squealy of PCOS with adverse effect on the women life. OBJECTIVE: To study the relationship between polycystic ovary syndrome and levels of C-reactive protein, human interleukin and hormonal and metabolic alteration in women with PCOS PATIENTS AND METHODS: Thirty women with Polycystic Ovary syndrome (PCOS) and other thirty women without PCOS were included. Venous blood samples were taken in early follicular phase of menstrual cycle [day
... Show MorePeriodontitis is one of the most prevalent bacterial diseases affecting man with up to 90% of the global population affected. Its severe form can lead to the tooth loss in 10-15% of the population worldwide. The disease is caused by a dysbiosis of the local microbiota and one organism that contributes to this alteration in the bacterial population is Prophyromonas gingivalis. This organism possesses a range of virulence factors that appear to contribute to its growth and survival at a periodontal site amongst which is its ability to invade oral epithelial cells. Such an invasion strategy provides a means of evasion of host defence mechanisms, persistence at a site and the opportunity for dissemination to other sites in the mouth. However, p
... Show MoreThe neutrophil/ lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) have the potential to be inflammatory markers that reflect the activity of many inflammatory diseases. The aim of this study was to evaluate the NLR and PLR as potential markers of disease activity in patients with ankylosing spondylitis.
The study involved 132 patients with ankylosing spondylitis and 81 healthy controls matched in terms of age and gender. Their sociodemographic data, disease activity scores using the Bath Ankylosing
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The present study aims to study the correlation between visfatin levels and metabolic syndrome in Iraqi obese adolescence (with and without metabolic syndrome) and its relation with other studied biochemical parameters. Sixty obese adolescences were depended in this study (with and without metabolic syndrome), compared with (30) non-obese children as control group. This study was done in the period from April 2020 until the end of December 2020, in the National Diabetes Centre/Mustansiriya University, Baghdad/Iraq. There were no significant differences in age, height, waist circumferences (WC), and diastolic blood pressure (DBP) in the patients' groups. In contrast, a significant increase differs (p<0.05) was recorded in the values of
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