Objectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed by gene sequencing and ASM activity. Study design This was a retrospective observational cohort study of patients diagnosed with ASMD in Iraq. Results The cohort included 47 patients with ASMD. A positive family history and consanguinity were noted in 66% and 98% of these cases, respectively. Hepatosplenomegaly, anemia, and thrombocytopenia were present in 100%, 79%, and 44% of patients, respectively. Notably, dysmorphic features were observed in 23% of cases. Thirteen SMPD1 variants were present in this cohort, the most common of which were c.1556A > G (p.Tyr519Cys), c.740delG (p.Gly247Alafs*10), c.967A > C (p.Ser323Arg), and c.1267C > T (p.His423Tyr). Three of the variants identified were novel, specifically c.967A > C (p.Ser323Arg), c.1579A > G (p.Asn527Asp), and c.905C > T (p.Thr302Ile). Conclusions Physicians assessing infants and children who present with hepatosplenomegaly or anemia and dysmorphic features should have a high index of suspicion for ASMD, particularly in regions with high rates of consanguineous unions.
The present study aimed to examine the effect of endosulfan insecticide on some molecular and biochemical parameters in white mice. Thirty mice were separated randomly into three groups for treatment with endosulfan. One group (G1) served as the control, while the other two groups received intraperitoneal injections of endosulfan G2 (3 mg/kg) and G3 (17 mg/kg) twice a week for 21 and 45 days, respectively. A biochemical study by measuring liver function parameters, including (alanine aminotransferase (ALT) and aspartate aminotransferase (AST)) and kidney function parameters, including (Blood Urea and Creatinine) and malondialdehyde (MDA), catalase activity (CAT). This study also tested DNA damage by comet assay (normal%, low%, med
... Show MoreBackground: The association between facial types and dental arches forms has considerable implications in orthodontic diagnosis and treatment planning. The aim was to establish the maxillary and mandibular dental arches width and length in skeletal and dental class II division 1 and class III malocclusion groups, find out the most frequent dental arch form and facial type and the association between them and to check the gender differences. Materials and Methods: Frontal and lateral facial photographs and maxillary and mandibular occlussal photographs for 90 iraqi subjects with age 18-25 years old (45 males and 45 females) divided equally into three groups, the 1st group with class II division 1malocclusion (overjet more than 3mm but less t
... Show MoreArtificial Neural networks (ANN) are powerful and effective tools in time-series applications. The first aim of this paper is to diagnose better and more efficient ANN models (Back Propagation, Radial Basis Function Neural networks (RBF), and Recurrent neural networks) in solving the linear and nonlinear time-series behavior. The second aim is dealing with finding accurate estimators as the convergence sometimes is stack in the local minima. It is one of the problems that can bias the test of the robustness of the ANN in time series forecasting. To determine the best or the optimal ANN models, forecast Skill (SS) employed to measure the efficiency of the performance of ANN models. The mean square error and
... Show MoreBACKGROUND: Diabetes Mellitus is a complex chronic illness that has increased significantly around the world and is expected to affect 628 million in 2045. Undiagnosed type 2 diabetes may affect 24% - 62% of the people with diabetes; while the prevalence of prediabetes is estimated to be 470 million cases by 2030. AIM OF STUDY: To find the percentage of undiagnosed diabetes and prediabetes in a slice of people aged ≥ 45years, and relate it with age, gender, central obesity, hypertension, and family history of diabetes. METHODS: A cross sectional study that included 712 healthy individuals living in Baghdad who accepted to take part in this study and fulfilling the inclusion and exclusion criteria.
... Show MoreBackground: Hemophilia B is an X-linked recessive disorder caused by mutations in the F9 gene, causing bleeding tendency predominantly in males. The mutational spectrum of the F9 gene has not been adequately studied in Iraq. Objectives: To detect the disease-causing variants of exons 6, 7, and 8 and immediate introns of F9 gene using Sanger sequencing among Iraqi hemophilia B patients and to correlate them with phenotypes. Methods: Forty Iraqi hemophilia B patients were recruited for this cross-sectional study from The Hereditary Bleeding Disorder Ward in the Children Welfare Teaching Hospital, Medical City, Baghdad, between November 2021 and April 2022 using a consecutive sampling technique. Peripheral blood samples were used for sequencin
... Show MoreAim of the present study is Identification of specific gene for GPCR using specific primers .and identification of difference in PCR analysis in patients with heart thrombosis and compared with healthy, Sequencing of PCR product regarding GPCR compared for all three subject, Identification the similarity of human GPCR with local strain of yeast fifty healthy control and fifty patients with thrombosis which diagnosed medically with cardiac specific troponin t, troponin 1 levels and electro myocardiogram ECG. The aged for all subjects ranged (39-75) years patients were lying in cardiac care unit at Ibn- al- Nafees teaching hospital and Sheikh Zayed teaching hospital. Genomic DNA of whole blood was extracted from buffy coat and cell cu
... Show MoreBackground: During Ramadan, Muslims fast throughout daylight hours. There is a direct link between fasting and increasing incidence of infections. Antibiotic usage for treatment of infections should be based on accurate diagnosis, with the correct dose and dosing regimen for the shortest period to avoid bacterial resistance. This study aimed to evaluate the practices of physicians in prescribing suitable antibiotics for fasting patients and the compliance of the patients in using such antibiotics at regular intervals. Materials and methods: An observational study was carried out during the middle 10 days of Ramadan 2014 in two pharmacies at Baghdad. A total of 34 prescriptions (Rx) for adults who suffered from infections were examined. For
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