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
KE Sharquie, MA Al-Dhalimi, AA Noaimi, HA Al-Sultany, Journal of Cosmetics, Dermatological Sciences and Applications, 2012 - Cited by 2
Background: Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder globally. The prevalence is 25% worldwide, distributed widely in different populations and regions. The highest rates are reported for the Middle East (32%). Due to modern lifestyles and diet, there has been a persistent increase in the number of NAFLD patients. This increase occurred at the same time where there were also increases in the number of people considered being obese all over the world. By analyzing fatty liver risk factors, studies found that body mass index, one of the most classical epidemiological indexes assessing obesity, was associated with the risk of fatty liver.
Objectives: To assess age, sex, and body
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Background: Rheumatoid arthritis (RA) is a chronic and systemic autoimmune disease that is characterized by severe synovial inflammation, cartilage erosion, bone loss, and generalized vasculopathy. Although the immunologic mechanism of RA is still unclear, it is now thought to be a primarily Th17-driven disease. Along with other factors, IL-23 stimulates the expansion of Th17 cells from naive CD4+ T cells.
Objective: The objective of this study is to assess the circulating levels of interleukin (IL)-23 in rheumatoid arthritis (RA) and determine the correlation between plasma/serum IL-23 levels and disease activity. So, we performed a systematic review with meta-analysis comparing
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Abstract The results of isolation, morphological and microscopic diagnosis, Chromic Agar, Vitik technology and Bact Alert showed that the diagnosis of fungi isolated from blood samples of end-stage renal patients who did not undergo dialysis and those who underwent dialysis was 60 samples for each type. The total number of fungal isolates isolated from people who did not undergo dialysis was 26 pathogenic fungal isolates, with a percentage frequency of 43.33%. In this study, 4 genera of pathogenic fungi were identified: Candida spp, Rhodotorula spp, Cryptococcus spp. and Aspergillus spp. The number of Candida isolates reached 13 isolates, with a frequency of 50%. The results also showed that the diagnosed species from the genus Rhodotorula
... Show MoreBackground: Gastroesophageal reflux disease, is a quite prevalent gastrointestinal disease, among which gastric content (excluding the air) returns into the oral cavity. Many 0ral manifestations related t0 this disease include tooth wear, dental caries also changes in salivary flow rate and pH. This study was conducted among gastroesophageal reflux disease patients in order to assess tooth wear in relation to salivary flow rate and pH among these patients and the effect of gastroesophageal reflux disease duration on this relation. Materials and methods: One hundred patients participate in this cross-sectional study for both genders and having an age range of 20-40 years old, patients had been endoscopically identified as having gastroeso
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Background :Atherosclerosis is the most
frequent underlying cause of ischemic heart
disease and a major cause of death all over the
world. This study was carried out to analyze and
compare the angiographic findings in patients
with diabetes mellitus versus non diabetics with
coronary heart disease , and to correlate these
findings with some risk factors for coronary
heart disease.
Methods: A total of 100 patients were studied,
50 with diabetes mellitus, and 50 non diabetics.
This study was carried out at Al-Sadr teaching
hospital in Basrah, Southern Iraq during the
period April 2009- September 2009. All patients
were known to have coronary heart disease. Risk
factors for coronary heart disease
Rheumatoid arthritis is a chronic systemic inflammatory disease. Inflammation leads to joint damage and increases the risk of cardiovascular diseases. Neutrophil lymphocyte ratio (NLR) is a measure of inflammation in many diseases. Therefore, we aimed to evaluate the usefulness of NLR to detect inflammation in RA, and its correlation to RA disease activity indices and some hematological parameters. A cross-sectional study involving 24 patients with active rheumatoid arthritis (RA) who are using MTX participated in this study. All patients were clinically evaluated using disease activity score of 28 joints (DAS28) and simplified disease activity index (SDAI), whereas functional disability was assessed by health assessment questionnaire di
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Background: Poly cystic ovary syndrome is a common disorder in women of reproductive age, it is associated with disturbance of reproductive, endocrine and metabolic functions. The pathophysiology of PCOS appears to be multifactorial and polygenic. Leptin seems to play an important role in pathophysiology of PCOS especially in women with BMI ≥25kg/m2. Objectives: To assess leptin level in both PCOS and healthy women and explore the relation to their body weight and body mass index. Patient and Methods: A total of 120 women were enrolled in this study, 60 women (50%) had PCOS (study group) and the reminder 60 women (50%) were healthy women and considered as control group. BMI was calculated first. Both groups were further sub
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