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Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
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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.

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Publication Date
Tue Aug 23 2022
Journal Name
International Journal Of Health Sciences
Association between periostin and bone minerals in osteoporosis and osteopenia Iraqi patients
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Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o

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Publication Date
Fri Dec 28 2018
Journal Name
Advances In Language And Literary Studies
Simplification Strategies in the Production of English Word-final Obstruent Clusters by Iraqi EFL College Students from A Markedness Theory Perspective
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This study investigates the phonotactics of English obstruent clusters in the word-final position from a markedness theory perspective among Iraqi EFL College Students whose native language, Arabic, prefers only two-member word-final obstruent cluster as a maximum. The markedness of clusters is measured depending on Iraqi EFL College Students’ utilization of the simplification strategies. This study tries to answer whether or not word-final obstruent clusters are marked or unmarked for Iraqi EFL College Students, and whether or not the markedness of the obstruent cluster increases as to its length. In order to answer these questions, a test has been distributed among 60 Iraqi EFL Fourth-Year College students, Department of English, Colleg

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Publication Date
Wed Dec 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Comparison of Bolton’s Ratios in a Sample of Iraqi and Egyptian Populations
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Background: The objective of this study was to investigate the possibility of standardizing the Bolton ratio analysis as a diagnostic measure for both Iraqi and Egyptian orthodontic populations within three Angle' classification groups. Materials and methods: Two hundred forty pretreatment study casts (one hundred twenty of each population) were included in this study and divided into three Angle' classification groups. The mesiodistal crown diameters of all teeth were measured for computing the anterior and total Bolton ratios. Analysis of variance was performed to compare the mean ratios of Bolton analysis as a function of the Angle classification.HSD test was used to specify the classes of malocclusion that have significant differences.

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Publication Date
Mon Mar 13 2023
Journal Name
Diagnostics
The Effect of a Bioactive Oral System and CO2 Laser on Enamel Susceptibility to Acid Challenge
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This study evaluated the structural changes of enamel treated by the Regenerate system and carbon dioxide (CO2) laser against acid challenge. Thirty human enamel slabs were prepared and assigned into three groups: Group I: untreated (control); Group II: treated with the Regenerate system; and Group III exposed to CO2 laser. All specimens were subjected to an acid challenge (pH 4.5–7.0) for 14 days. Specimens were evaluated and compared at 120 points using five Raman microspectroscopic peaks; the phosphate vibrations ν1, ν2, ν3, and ν4 at 960, 433, 1029, and 579 cm−1, respectively, and the carbonate at 1070 cm−1, followed by Vickers microhardness test. The ratio of carbonate to phosphate was correlated to the equivalent mic

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Publication Date
Sat Jun 18 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Some Pro and Anti-Inflammatory Cytokines in Children with Tonsillitis and their Correlations with Vitamin D Deficiency
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Inflammation of the tonsils could be described as acute tonsillitis, mainly due to infection. Recurrent tonsillitis could be defined as 3-7 episodes during the first 3 years of age. Vitamin D, which is a neuro-hormone with pleiotropic biological activities may modulate the immune response by alleviation, and stimulation of Th1 and Th2 cell proliferation, respectively, that influence the stimulation, synthesis, and secretion of both pro and anti-inflammatory cytokines. In this study we aimed to shed light on the levels of vitamin D in children with different episodes of tonsillitis in association with levels of interleukins (TNFα, IL-2, IL-4, IL-10). Blood samples were collected from 48 participants in 3 groups: control, acute tonsilliti

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Publication Date
Sat Jan 01 2022
Journal Name
Revista Iberoamericana De Psicologia Del Ejercicio Y El Deportethis Link Is Disabled.,
THE EFFECT OF EXERCISES WITHIN A FACTORY HIERARCHICAL STRUCTURE IN REDUCING THE DEGREE OF PAIN IN A SAMPLE OF BACK PATIENTS
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Publication Date
Thu Feb 01 2024
Journal Name
Microbial Pathogenesis
Evaluation of antibacterial, antifungal and antibiofilm activities of A. baumannii-derived tannase and gallic acid against uropathogenic microorganisms
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Publication Date
Fri Apr 01 2016
Journal Name
Journal Of Engineering
Separation of Lead (Pb2+) and Cadmium (Cd2+) from Single and Binary Salt Aqueous Solutions Using Nanofiltration Membranes
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The present work reports on the performance of three types of nanofiltration membranes in the removal of highly polluting and toxic lead (Pb2+) and cadmium (Cd2+) from single and binary salt aqueous solutions simulating real wastewaters. The effect of the operating variables (pH (5.5-6.5), types of NF membrane and initial ions concentration (10-250 ppm)) on the separation process and water flux was investigated. It was observed that the rejection efficiency increased with increasing pH of solution and decreasing the initial metal ions concentrations. While the flux decreased with increasing pH of solution and increasing initial metal ions concentrations. The maximum rejection of lead and cadmium ion

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Publication Date
Wed Jan 15 2020
Journal Name
Iraqi Journal Of Laser
Optimizing the Secure Key Rate of a Single Sequential Quantum Repeater with Two Different Quantum Memories
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Quantum channels enable the achievement of communication tasks inaccessible to their
classical counterparts. The most famous example is the distribution of secret keys. Unfortunately, the rate
of generation of the secret key by direct transmission is fundamentally limited by the distance. This limit
can be overcome by the implementation of a quantum repeater. In order to boost the performance of the
repeater, a quantum repeater based on cut-off with two different types of quantum memories is suggestd,
which reduces the effect of decoherence during the storage of a quantum state.

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Publication Date
Mon Jan 01 2018
Journal Name
Journal Of Global Pharma Technology
Molecular Investigation of Curli Fimbriae Genes in Enterobacter cloacae Isolated from Various Clinical Sources in Baghdad, Iraq
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Thirteen isolates were collected from various clinical sources during the periodfrom 22/10/2017 to 22/12/2017. All the isolates were diagnosed based on the microscopic and biochemical propertiesby Vitek-2 Compact system. All isolates formed biofilm 100%, with 30% of isolatesbiofilm produced strongly and 70% on medium. The results of the present study have shown the presence of Curli fimbriae genes in E. cloacae bacteria from cases of urinary tract infections, infected patient with blood bacteremia and inflammation of wounds. Curli fimbriae is considered to be an important factor in the virulence of E.cloacae bacteria, which plays an important role in adhering and combining cells on solid surfaces to form the biofilmand helps in the adhesion

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