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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
Sun Apr 03 2011
Journal Name
لمؤتمر العلمي الرابع لكلية التربية/ جامعة سامراء
A comparison between alanine aminopeptidase (AAP) activity in type 2 diabetes and diabetic cardiac patients.
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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
A Study of the Relation between Human Cytomegalovirus and IL-35 in Rheumatoid Arthritis Disease Patients in Iraq
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ackground An autoimmune and inflammatory illness called rheumatoid arthritis (RA) occurs when your immune system mistakenly attacks normal cells in your body. Interleukin-35 is a brand-new cytokine that belongs to the immunosuppressive and anti-inflammatory IL-12 family. β -herpesvirus that produces inflammation and stays dormant in its host for life is the human cytomegalovirus. Human herpesvirus (HCMV) has been at the core of several RA-related theories. Objective The current study looked at the association between RA and serum IL-35 levels as well as the association between RA and CMV. Patients and methods Blood samples were taken in the Baghdad Teaching Hospital and Typical Rheumatology Unit from January 2022 to Mars 2022 for the curre

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Publication Date
Thu Nov 16 2023
Journal Name
Journal Of Chemical Health Risks
Synthesis, Characterization and Study the Biological Activity of Some New Heterocyclic Compounds Derived from Terephthalic Acid
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The organic compound imidazole has the chemical formula C3N2H4. Numerous significant biological compounds contain imidazole. The amino acid histidine is the most prevalent. The substituted imidazole derivatives have great potential for treating a variety of systemic fungi infections. Thiourea is an organosulfur compound with the formula SC(NH2)2. It is a reagent in organic synthesis. In this paper, some new imidazole and thiourea derivatives are synthesized, characterized, and studied for their biological activity. These new compounds were synthesized from the starting material terephthalic acid, which was transformed to corresponding ester [I] by the refluxing of diacid with methanol in the presence of H2SO4 as a catalyst, compound [I] con

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Publication Date
Thu Jan 02 2025
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Morphological and Molecular studies of Acanthobra marmid Heckel, 1843 (Piscies, Cypriniformes, Leuciscidae) from the Middle of Iraq
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Leuciscidae species are the abundant and widely distributed fish species in Iraq's inland waters. They are complex species, and morphology makes them difficult to identify. Molecular analysis achieved and confirmed the morphological characters. Twenty specimens of Acanthobrama marmid were collected from two localities at Tigris River, in the middle of Iraq; 15 specimens from the Al-Zubaydia sub-district and five specimens from Al-Tharthar Lake. We used the mitochondrial DNA cytochrome b (cytb) gene to sequence the DNA of A. marmid. The following analysis are compared the sequences with those of other fish genera and species found in the Gene Bank. The barcoding result (DNA sequencing) in fishes found in the same family (Leuciscidae) showed

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Publication Date
Fri Dec 14 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Evaluation of Diabetes Self-Management among Patients in Baghdad City: A Comparative Study
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Objective(s): To Evaluate Diabetes self –management among patients in Baghdad City and to compare
between these patients self-management relative to the type of the disease.
Methodology: A descriptive design was conducted in Baghdad city, started from November 16th 2017 to the
end of May 17 th 2018 in order to evaluate Diabetes self-management. Purposive (non-probability) sample,
which was consisted of (120) patients who were diagnosed with D.M. The sample is comprised of (60) patient
with diabetes type I and (60) patient with diabetes type II. It is consisted of (60) male and (60) female. A
questionnaire is constructed for the purpose of the study. It is composed of (42) items. Reliability and validity of
the ques

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Publication Date
Mon Feb 01 2010
Journal Name
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, And Endodontology
Oral Candida flora in a group of Jordanian patients with β-thalassemia major
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Objective Thalassemic patients present with multiple immune abnormalities that may predispose them to oral Candida, however this has not been investigated. The aim of this study was to assess oral candidal colonization in a group of patients with β-thalassemia major both qualitatively and quantitatively. Study design The oral mycologic flora of 50 β-thalassemia major patients and 50 age- and sex-matched control subjects was assessed using the concentrated oral rinse technique. Candida species were identified using the germ tube test and the Vitek yeast identification system. Results Oral Candida was isolated from 37 patients (74%) and 28 healthy subjects (56%; P = .04). The mean candidal count was significantly higher in thalassemic patie

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Publication Date
Mon Oct 01 2018
Journal Name
International Journal Of Electrical And Computer Engineering
Load balance in data center SDN networks
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In the last two decades, networks had been changed according to the rapid changing in its requirements. The current Data Center Networks have large number of hosts (tens or thousands) with special needs of bandwidth as the cloud network and the multimedia content computing is increased. The conventional Data Center Networks (DCNs) are highlighted by the increased number of users and bandwidth requirements which in turn have many implementation limitations. The current networking devices with its control and forwarding planes coupling result in network architectures are not suitable for dynamic computing and storage needs. Software Defined networking (SDN) is introduced to change this notion of traditional networks by decoupling control and

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Biochemical Characterization for Lipid Synthesis in Aspergillus niger
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A niger, a fungus which doesn't have high ability to production lipid, this fungus has been select to investigate the non oleaginicity. In this search, there are explorations about: i) growth profile ii) enzymes profile iii) isoforms. Growth profile shows that this fungus doesn't have ability to accumulate lipid more than 6% while bio mass are around 10g/l in spite of the presence of glucose in the media till the end of cultivation time and excision of nitrogen within 24 hrs. In enzyme study, we investigate all lipogenic enzymes Malic enzyme (ME), Fatty acid synthase (FAS), ATP: Citrate lays (ACL), NAD+ isocitrate dehydrogenase (NAD+ICDH), Glucose-6-phosphate (G6PD), and 6-phosphogluconate dehydrogenase (6PGD), all these enzymes show, ac

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Publication Date
Sun Dec 07 2014
Journal Name
Baghdad Science Journal
Studying Association between Thyroid Disorders and Helicobacter pylori infection in Iraqi Patients
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This study was aimed to investigate the association between thyroid disorder and Helicobacter pylori infection in 122 patients (100 females and 22 males )and for comparison, 60 healthy individuals (31females and 29 males),who had no thyroid disorder, were also included in the study. Blood samples were collected from both patients and the healthier individuals. Enzyme Linked Fluorescent Assay (ELFA) technique through using Vitek Immuno Diagnostic Assay System (VIDAS) was applied to measure levels of the thyroid hormones (tri-iodothyronine T3, tetra-iodothyroxine T4) and thyroid stimulating hormone (TSH). From the results obtained, patients were classified into three groups: 40 were

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Publication Date
Wed Dec 30 2015
Journal Name
Al-kindy College Medical Journal
Subclinical Hypothyroidism in Obese Iraqi Patients Attending Obesity Research and Therapy Unit
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ABSTRACTBackground Subclinical hypothyroidism is mild thyroid hormone deficiency, defined by elevation of serum thyroid-stimulating hormone concentration despite a normal free T3, free T4 level, can be distinguished by clinical and circumstantial observations from other conditions that cause this constellation of laboratory findings. The aim is to find the prevalence, anthropologic, and metabolic changes associate subclinical hypothyroidism(SH) in adult patients presented to obesity research and therapy unit (ORTU Objective: To find the prevalence of subclinical hypothyroidism (SH) in adult obese patients presented to obesity research and therapy unit (ORTU) in AL-Kindy College of medicine and to describe the anthropologic and metabolic

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