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: Non-small cell lung cancer (NSCLC) is caused of 85% of all lung cancers. Among the most important factors for lung tumor growth and proliferation are the tyrosine kinase receptors that coded by the epidermal growth factor recep-tor (EGFR) gene. Activation of EGFR ultimately leads to developing of lung cancer. The present study was undertaken with an objective to detect EGFR mutations in bronchial wash from Iraqi patients with NSCLC before treatment. Methods: DNA was extracted from bronchial wash samples collected from 50 patients with NSCLC by using a Qiamp DNA Mini Kit (Qiagen, Hilden, Germany). Then, EGFR mutations were determined by using real-time RCR combined with two technologies, Amplification Refractory Mutation System (
... Show MoreBackground: Non-small cell lung cancer (NSCLC) is caused of 85% of all lung cancers. Among the most important factors for lung tumor growth and proliferation are the tyrosine kinase receptors that coded by the epidermal growth factor recep-tor (EGFR) gene. Activation of EGFR ultimately leads to developing of lung cancer. The present study was undertaken with an objective to detect EGFR mutations in bronchial wash from Iraqi patients with NSCLC before treatment. Methods: DNA was extracted from bronchial wash samples collected from 50 patients with NSCLC by using a Qiamp DNA Mini Kit (Qiagen, Hilden, Germany). Then, EGFR mutations were determined by using real-time RCR combined with two technologies, Amplification Refractory Mutation System (
... Show MoreConstructing a fine 3D geomodel for complex giant reservoir is a crucial task for hydrocarbon volume assessment and guiding for optimal development. The case under study is Mishrif reservoir of Halfaya oil field, which is an Iraqi giant carbonate reservoir. Mishrif mainly consists of limestone rocks which belong to Late Cenomanian age. The average gross thickness of formation is about 400m. In this paper, a high-resolution 3D geological model has been built using Petrel software that can be utilized as input for dynamic simulation. The model is constructed based on geological, geophysical, pertophysical and engineering data from about 60 available wells to characterize the structural, stratigraphic, and properties distribution along
... Show MoreConstructing a fine 3D geomodel for complex giant reservoir is a crucial task for hydrocarbon volume assessment and guiding for optimal development. The case under study is Mishrif reservoir of Halfaya oil field, which is an Iraqi giant carbonate reservoir. Mishrif mainly consists of limestone rocks which belong to Late Cenomanian age. The average gross thickness of formation is about 400m. In this paper, a high-resolution 3D geological model has been built using Petrel software that can be utilized as input for dynamic simulation. The model is constructed based on geological, geophysical, pertophysical and engineering data from about 60 available wells to characterize the structural, stratigraphic, and properties distri
... Show MoreBackground: COVID-19 is an ongoing disease that caused, and still causes, many challenges for humanity. In fact, COVID-19 death cases reached more than 4.5 million by the end of August 2021, although an improvement in the medical treatments and pharmaceutical protocols was obtained, and many vaccines were released. Objective: To, statistically, analyze the data of COVID-19 patients at Alshifaa Healthcare Center (Baghdad, Iraq). Methods: In this work, a statistical analysis was conducted on data included the total number, positive cases, and negative cases of people tested for COVID-19 at the Alshifaa Healthcare Center/Baghdad for the period 1 September – 31 December 2020. The number of people who got the test was 1080, where 424 w
... Show MoreAN Adil A, F Basman M, 2009
Mechanical degradation hampers the practical usage of polymers for turbulent drag reduction
application. Mechanical degradation refers to the chemical process in which the activation energy of
polymer chain scission is exceeded by mechanical action on the polymer chain, and bond rupture
occurs. When a water-soluble polymer and surfactant are mixed in water solution, the specific structures
(aggregates) are formed, in which polymer film is formed around micelle. In this work, Xanthan gum (XG) –
Sodium lauryl ether sulfate (SELS) complex formation and its effect on percentage viscosity reduction
(%VR) was studied. It was found that SELS surfactant reduced the mechanical degradation of XG much
more efficiently than th
Tumor necrosis factor-alpha (TNF-α) antagonists’ therapy are expensive and has a non-responsive rate between 30% to 40% in rheumatoid arthritis patients. Genetic variation plays a vital role in the responsiveness to this type of therapy.The aim of this study is to investigate if the presence of genetic polymorphism in the TNF-α gene promoter region at locations -376 G/A (rs1800750), -806 C/T (rs4248158), and -1031 T/C (rs1799964) affects rheumatoid arthritis patient's tendency to be a non-responder to etanercept.
Eighty RA patients on etanercept (ETN) for at least six months were recruited from the Rheumatology Unit at Baghdad Teaching Hospital. Based on The European League Against Rheumatism response (EULAR) criteria, patient
... Show MoreFinding the shortest route in wireless mesh networks is an important aspect. Many techniques are used to solve this problem like dynamic programming, evolutionary algorithms, weighted-sum techniques, and others. In this paper, we use dynamic programming techniques to find the shortest path in wireless mesh networks due to their generality, reduction of complexity and facilitation of numerical computation, simplicity in incorporating constraints, and their onformity to the stochastic nature of some problems. The routing problem is a multi-objective optimization problem with some constraints such as path capacity and end-to-end delay. Single-constraint routing problems and solutions using Dijkstra, Bellman-Ford, and Floyd-Warshall algorith
... Show More