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
(32)
(21)
The tongue is one of the important organs of vertebrates, as it plays an important role in the process of food intake, absorption and swallowing, It varies the morphological according to the organism, the habitat, and the nature of the food for it. The aim of the study is to reveal the histologist structure of the tongue of the guinea pig(Cavia porcellus), where we took three samples of adult males, and crosses the tongue similar to rodents, except for some differences in terms of the epithelial layers, mucosa, the muscular layer, the number of tongue layers and the spread of papillae on the tongue, which is, differences due to adaptation to the habitat and their diet.
(111)
الخلاصة
تعد الانتخابات بمثابة الطريق المؤدي إلى الديمقراطية كونها النمط الأكثر شيوعاً لمشاركة المواطنين في الحياة السياسية للبلدان واختيار ممثليهم في المجالس التشريعية، حيث أن مطلب إجراء انتخابات حرة ونزيهة لم يعد مطلباً داخلياً فحسب بل مطلباً دولياً يصرّ المجتمع الدولي على الوفاء به وهذا يلقي على عاتق كل دولة أن تضع من الضمانات ما يكفل ممارسة هذه الانتخابات ب
... Show More
ABSTRACT:. The Lower Cretaceous Zubair formation is comprised of sandstones intercalated with shale sequences. The main challenges that were encountered while drilling into this formation included severe wellbore instability-related issues across the weaker formations overlaying the reservoir section (pay zone). These issues have a significant impact on well costs and timeline. In this paper, a comprehensive geomechanical study was carried out to understand the causes of the wellbore failure and to improve drilling design and drilling performance on further development wells in the field. Failure criteria known as Mogi-Coulomb was used to determine an operating mud weight window required for safe drilling. The accuracy of the geomechanical
... Show MoreThe present study reports Morchella conica Pers.1818, which belongs to the family, Morchellaceae as a new record of Iraqi macromycota based on the morphological and molecular methods. During their short and often sporadic fruiting season, this fungal species was found in mixed forest unburned areas in Branan ranges (Suliamaniya Province, Northeast Iraq). Currently, M. conica is the second Morchella species reported from Iraq. The current study aimed to introduce this new record, which is poorly studied in the Middle East. M. conica is morphologically described and phylogenetically confirmed. The relationship between this species and other species within the genus was studied using the nrDNA ITS sequences from different species and divers
... Show More
(3)
The relative strength index (RSI) is one of the best known technical analysis indicators; it provides the speculators by prior signals about the future stock’s prices, and because the speculations in shares of companies which listed in the Iraq Stock Exchange have a high degree of risk, like risk of shares prices felling, so the speculators became committed to use some methods to reduce these risks, and one of these methods is the technical analysis by using the relative strength index (RSI) which enable the speculators of choosing the right time for buy and sell the stocks and the right time to enter or leave the market by using the historical rice data. And from here the problem of the research formulated as “Is the using of
... Show More
The anatomical features of leaves and stems of seven species belonging to five genera of the Papaveraceae family were studied, including: Fumaria bracteosa Pomel, 1875; Glaucium grandiflorum Boissier & A. Huet,1856; Hypecoum pendulum Linnaeus, 1753; Papaver fugax Poiret,1804; Papaver macrostomum Boissier & A. Huet, 1867; Papaver rhoeas Linnaeus, 1753 and Roemeria refracta de Candolle,1821. The results showed that the anticlinal cell walls of the adaxial surface were more thickened in P. fugax, H. pendulum, P. macrostomum and R.refracta, while it was thin in P. rhoeas. The cur
... Show More
(5)
(2)
The Developing economies of countries have witnessed essential changes to words the development of tourism industry in the 21st century . in addition to adopting same of policies and strategies to grow up with the tourism sector to make it one of the important economic sector to compete the tourist cal developments in the wear .
As for the tourism sector in Iraq ,it's still afresh one , has many of elements which can be in vested ,needs a wide strategies of tourist cal in statutes and variety completive services and change of success for the locale and forgin investor ,the essential aim after this research is to prompt the national economic through the tourism industry and making concisen
... Show More
Intestinal parasites present in freshwater from the Al- Fallujah, Al- Habbaniyah and Al-Alwarar, of the Euphrates river in Iraq are Cryptosporidium spp (25.3%), Giardia sp (3.3%), Eimeria sp (3.3%), Pinworm eggs (3.3%), Naegleria sp (15.3%), Lecane niwati (1.3%), Trichomonas hominis (19.3%), Acanthamoeba spp (24.6%), Entamoeba coli (20.6%), Balantidium coli (12%), Ascaris sp (3.3%), Volvox sp (26%), Chilomastix mesnili (4%), Pelomyxa palustris (2.6%), Trinema enchelys (2.6%), Actinophrys Sol (7.3%), Amobea Vespertilio (9.3%), Rhabditea (5.3%), paramecium bursaria (9.3%), cyst of cestode (6%), Oocyst protozoa (16%), Euglena gracilis (10.6%).were isolated. The study's goal was to isolate some of the parasites that pollute the Euphrat
... Show More
(1)