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.
Background: Hypertension and osteoporosis are worldwide diseases with high prevalence; the study was done to estimate the correlation between hypertension and bone turnover in a sample of Iraqi postmenopausal women with hypertension and obesity. Materials and Methods: A cross-sectional study was done on 99 hypertensive obese postmenopausal Iraqi women (65 hypertensive obese and 34 normotensive non obese). The serum calcium (Ca), phosphorus (Pi), and alka line phosphatase (ALP) levels were measured as a represen tative of bone markers. Results: The results demonstrated that serum alkaline phosphatase is significantly elevated in the case group compared to the controls. No significant changes were observed in the levels of Ca and
... Show MoreThe study conducted to investigate the association between Helicobacter pylori infection and eye diseases (Glaucoma, Cataract, CSR and Uveitis). One hundred and four patients with multiple eye disorders (10-80) years were observed from 10/9/2020 to 18/11/2020 and compared to thirty-one healthy people (19 female and 12 male). Each participant was tested for H. pylori CagAAbs and TNF-α using an enzyme-linked immunosorbent assay (ELISA). The results have shown that there was a non-significant difference (p≥0.05) in the concentration of CagAantibodies in sera of patients with eye diseases except in the case of CSR (central serous chorioretinopathy), which was a significant difference (P≤0.05) compared to the control group. Also, the result
... Show MoreProstate cancer is an important and potentially fatal disease in humans. Both genetic and environmental risk factors are associated with increased risk of prostate cancer among Asian pop
Five novel nickel, iron, cobalt, copper, and mercury complexes were synthesized from tetraazamacrocyclic Schiff base ligand (L), which were derived from 3-(4-(dimethyl amino) benzylidene) pentane-2,4-dione and 1,2- diaminocyclohexane in a 2:2 molar ratio. Many physico-chemical and spectroscopic techniques, including melting point, 1HNMR, 13CNMR, elemental analysis, molar conductance, magnetic susceptibility, UV-Vis, FT-IR, and thermogravimetric analysis (TGA), were used to characterize the Schiff base ligand and all metal complexes. The octahedral geometry of all the complexes [MLCl2] is confirmed by spectroscopic analyses. All substances' biological properties, such as their in vitro antioxidant activity or level of free radical scavenging
... Show MoreThe aims of this study to diagnose the role of the (relationship and impact) Academic driving practices dimensions (model the way, inspire a shared vision, challenge the process, enable others to act, encourage the heart ) in the activation of human capital (investment and development) for (knowledge, skills, expertise, creative and training capabilities) in a sample of university professors in Baghdad city(Baghdad University, Al Mustansiriya University, University of Technology). (367 )samples were distributed to (232 at the University of Baghdad, 97 at Al-Mustansiriya University and 38 at the University of Technology). The goals of descriptive analytical method research have been used, questionnaire has been a main tool for dat
... Show MoreThe aim of the present study was to demonstrate the possible role of statins on the inflammatory biomarkers in patients with periodontal disease (PD) This cross-sectional study involved 74 patients with PD and/or dyslipidemia divided into Group A: 34 patients with PD (nonstatins users); Group B: 40 patients with PD (statins users); and Group C: 30 healthy controls. Total cholesterol (TC), triglyceride (TG) and high-density lipoprotein, C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), and malondialdehyde (MDA) were measured . Blood pressure prolife and indices of PD were evaluated in each group. Statistical analysis was conducted by using SPSS version 20.0.
There are a number of obstacles in the field of work of social workers that prevent them from performing their full role. Their tasks may sometimes be easy and manageable and at other times they may be difficult and complex, however professional roles are mostly the latter, contribute to the feeling of the inability to provide the work required at the level expected by others. In such cases, the relationship binding specialists to their work is affected negatively and this has devastating effects on the professional process as a whole, including their professional practice. This feeling of helplessness and depletion of energy and effort leads to a state of fatigue and emotional exhaustion that can be defined as job burnout, our study aims t
... Show MoreThe use of antibiotics (AB) in surgery focused in either treating established infection or to prevent suspected post-operative infection. Inappropriate use of antibiotic for treatment of patients with common infections is a major problem worldwide, with great implications with regards to cost of treatment and development of resistance to the antimicrobial agent. Moreover, antibiotics may often be dispensed without a clear clinical indication. This study was conducted to estimate the medication errors in using antibiotic for surgery patients which may effect their wound healing. A 260 patients with clean-contaminated and contaminated surgery were included from two teaching hospitals, 160 patient from Medical city hospital and 100 from Al-
... Show MoreThe use of antibiotics (AB) in surgery focused in either treating established infection or to prevent suspected post-operative infection. Inappropriate use of antibiotic for treatment of patients with common infections is a major problem worldwide, with great implications with regards to cost of treatment and development of resistance to the antimicrobial agent. Moreover, antibiotics may often be dispensed without a clear clinical indication. This study was conducted to estimate the medication errors in using antibiotic for surgery patients which may effect their wound healing. A 260 patients with clean-contaminated and contaminated surgery were included from two teaching hospitals, 160 patient from Medical city hospital and 100 fro
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