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: Chronic kidney disease is a condition that results from an indefinite change in the structure and function of the kidneys. A slow, steady progression characterizes it and is irreversible. Objectives: This study aims to evaluate the findings of certain biochemical and hematological tests in samples from Iraqi CKD patients. Methods: This study included 90 subjects, where 70 patients with chronic kidney disease and 20 healthy individuals. Blood samples were collected from the patients during their visits to Ghazi Al-Hariri Surgical Specialties' Hospital- Medical City, Baghdad, Iraq. Age, sex and body mass index were assessed for each participant followed by renal function tests [serum blood urea, creatinine, uric acid a
... Show MoreBACKGROUND: Color Vision Deficiency (CVD) is mostly an inherited trait and is not an uncommon problem. Prevalence of CVD differs among different ethnic and geographic properties of the population that affect their genetic constitution. Ishihara plates remain an internationally accepted tool for screening red-green CVD. OBJECTIVE: To determine the prevalence of red-green CVD among adult males from Baghdad province. PATIENTS AND METHODS: One thousand and five (1005) adult males were enrolled in this study, using a systematic sampling technique, and were screened for CVD utilizing 24-plate Ishihara plates and re-tested by EnChroma 39-Color plates. All males were residing in Baghdad and the center of Iraq. RESULTS: Among all tested males, 948 r
... Show MoreAbstract Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2. Peripheral blood samples were aspirated from all patients for troponin I and DNA testing. Molecular analysis to detect 12 common cardiovascular genetic risk factors using CVD StripAssay® (ViennaLab Diagnostics GmbH, Austria) was performed
... Show MoreSome new 2,5-disubsituted-1,3,4-oxadiazole derivatives with azo group were synthesized by known reactions sequence . The structure of the synthesized compounds were confirmed by physical and spectral means .
Modern statistical techniques offer a range of methodologies for modelling time series data, with conditional and unconditional approaches providing complementary insights that enhance overall model accuracy. This article introduced a modified ARIMA model employing conditional and unconditional parameter estimates. The methodology for the new model based on novel methods is provided. The prediction process, one and two steps ahead, is covered in detail, and a novel algorithm is presented. The best model is picked based on various measurement criteria, such as coefficient of determination (R2), root mean squared error (RMSE), and mean absolute scaled error (MASE). The suggested model is applied to a monthly petrol sales dataset (Jan
... Show More<p>Photovoltaic (PV) systems are becoming increasingly popular; however, arc faults on the direct current (DC) side are becoming more widespread as a result of the effects of aging as well as the trend toward higher DC voltage levels, posing severe risk to human safety and system stability. The parallel arc faults present higher level of current as compared with the series arc faults, making it more difficult to spot the series arc. In this paper and for the aim of condition monitoring, the features of a DC series arc fault are analyzed by analysing the arc features, performing model’s simulation in PSCAD, and carrying out experimental studies. Various arc models are simulated and investigated; for low current arcs, the heur
... Show MoreMultiple myeloma is hematological disease produces many complications in the bone, kidney, neural and other complications. The study aims to measure serum biomolecules like fetuin-A and resistin and determined the possibility to use these biomarkers as disease predictor. blood samples were isolated from 58 patients and 24 sex and age-matched control, serum then isolated, and proper ELISA kit then used to a determined level of B2 microglobulin, resistin, and fetuin-A. The result demonstrated significant increase in B2 microglobulin, fetuin-A and resistin in patients compare to control (1.3470.714 vs. 0.9130.253), p = 0.000, (14.00310.352 vs. 9.2594.264), p= 0.005, (1.9673.595 vs. 0.6040.622), p = 0.009, respectively. &
... Show MoreBackground:SARS-CoV-2 infection has caused a global pandemic that continues to negatively impact human health. A large group of microbial domains including bacteria co-evolved and interacted in complex molecular pathogenesis along with SARS-CoV-2. Evidence suggests that periodontal disease bacteria are involved in COVID-19, and are associated with chronic inflammatory systemic diseases. This study was performed to investigate the association between bacterial loads of Porphyromonas gingivalis and pathogenesis of SARS-CoV-2 infection. Fifty patients with confirmed COVID-19 by reverse transcriptase-polymerase chain reaction, their age ranges between 20-76 years, and 35 healthy volunteers (matched accordingly with age and sex to th
... Show MoreThe aim of this study is to find a relationship between oxidative stress and adiponectin in Iraqi patients with acromegaly. The present study included 30 patients with acromegaly disease attending at Al-Yarmuk teaching hospital , and 30 healthy individuals as a control group.The two groups with ages ranging (30-55) years. The results revealed a highly significant elevation in all parameters (GH,IGF-1 , adiponectin , malondialdehyde , and peroxynitrite ) levels in sera of patients when compared with healthy control .It can be concluded that oxidative stress (malondialdehyde and peroxynitrite ) may be valuable in detecting of endocrine diseases like acromegaly .