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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 Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Clinical and biochemical evaluation of facial acanthosis nigricans
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KE Sharquie, AA Noaimi, HG Mahmood, SM Al-Ogaily, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 6

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Publication Date
Mon Mar 01 2010
Journal Name
Al-khwarizmi Engineering Journal
Heat Transfer of Single and Binary Systems in Pool Boiling
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The present research focuses on the study of the effect of mass transfer resistance on the rate of heat transfer in pool boiling. The nucleate pool boiling heat transfer coefficients for binary mixtures (ethanol-n-butanol, acetone-n-butanol, acetone-ethanol, hexane-benzene, hexane-heptane, and methanol-water) were measured at different concentrations of the more volatile components. The systems chosen covered a wide range of mixture behaviors.

The experimental set up for the present investigation includes electric heating element submerged in the test liquid mounted vertically. Thermocouple and a digital indictor measured the temperature of the heater surface. The actual heat transfer rate being obtained by multiplying the voltme

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Publication Date
Tue Dec 01 2020
Journal Name
International Journal Of Pharmaceutical Research
Synthesis of Some New Schiff Bases Starting from 2,2 Dimorpholinyl Acetic Acid and Evaluating the Biological activity
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n this study new derivatives of Schiff bases (5-10) were synthesized from the new starting material 1 . Which has been synthesized by the reaction of (1 mol.) of dichloroacetic acid with two moles of morpholine, in the presence of potassium hydroxide, Ester derivatives 2 and 3 were synthesized by the reaction of 1 with methanol or ethanol respectively in the presence of sulphuric acid as catalyst . Compound 2 was also prepared from dimethylsulphate with high yield , 2 and 3 was used to synthesized 2,2-dimorpholinylacetohydrazide 4 via reaction with NH2NH2.H2O 80% .Imines (5-10) were synthesized via the reaction of 4 with appropriate aromatic aldehydes in the presence of G.A.A as a catalyst . Derivatives compounds (1-10) were identifie

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Publication Date
Tue Nov 01 2016
Journal Name
Our Dermatology Online
Topical therapy of molluscum contagiosum as a comparative therapeutic study using 15% phenol in lactic acid, 5% tincture iodine and pricking alone
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KE Sharquie, AA Noaimi, GA Ibrahim, AS Al-Husseiny, Our Dermatology Online, 2016 - Cited by 3

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Publication Date
Fri Feb 28 2025
Journal Name
Moroccan Journal Of Chemistry
Design, Synthesis, and Biological Evaluation of new sulfonamides derived from 2-Aminopyridine: Molecular docking, POM analysis, and identification of the pharmacophore sites
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New series of imidazole[1,2-a]pyridine-sulfonamides was designed and synthesized from 2-aminopyridine, which was reacted with p-bromo phenacyl bromide in the present of MgO to produce the corresponding imidazole[1,2-a]pyridine, which was then reacted with chlorosulfonic acid to produce 2-(4-bromophenyl)imidazole[1,2-a]pyridine-3-sulfonyl chloride [2]. Following that, treatment of (2) with different amines using the grand method to generate imidazole [1,2-a] pyridine sulfonamides. All the synthesized compounds have been characterized by FTIR, 1HNMR and 13CNMR and C.H.N analysis. The DFT, POM analysis and molecular docking were carried out on for all final compounds to investigate drug like attributes, and the results revealed showed that the

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Publication Date
Sat Jul 01 2006
Journal Name
Saudi Medical Journal
Treatment of alopecia areata by topical diclofenac sodium gel in comparison to benzoyl peroxide gel. A novel single blind therapeutic clinical trial
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KE Sharquie, AA Al-Nuaimy, WJ Kadhum, Saudi medical journal, 2006 - Cited by 3

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Isolation and Identification of Salmosamonella typhi from clinical samples with molecular detection of O-antigen encoded genes
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Abstract

Antibiotic treatment of  S.typhi is difficult as compared to treatment of acute infection. Antibiotic resistance carried against S.typhi  by using 6 kinds of antibiotics from  different classes, their results  showed that all isolates were  high resistance to Ampicillin (99%), Gentamicin (98%), Amikacin (79%) and   less  resistances  Trimethoprim (55%) ,  Imipenem (60%)  and Ceftriaxone(66%)  .

The present study focused on the molecular detection of Wzx flippase, Wzy polymerase genes in some Salmonella typhi isolates, Samples were collected from typhoid patients by classical lab work. Antibiotics susceptibilit

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Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
Prevalence of Quinolones Resistance Proteins Encoding Genes (qnr genes) and Co-Resistance with β-lactams among Klebsiella pneumoniae Isolates from Iraqi Patients
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This study investigated the prevalence of quinolones resistance proteins encoding genes (qnr genes) and co-resistance for fluoroquinolones and β-lactams among clinical isolates of Klebsiella pneumoniae.  Out of 150 clinical samples, 50 isolates of K. pneumoniae were identified according to morphological and biochemical properties. These isolates were collected from different clinical samples, including 15 (30%) urine, 12 (24%) blood, 9 (18%) sputum, 9 (18%) wound, and 5 (10%) burn. The minimum inhibitory concentrations (MICs) assay revealed that 15 (30%) of isolates were resistant to ciprofloxacin (≥4µg/ml), 11 (22%) of isolates were resistant to levofloxacin (≥8 µg/ml), 21 (42%) of isolates were re

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Publication Date
Fri Feb 23 2018
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Hypolipidemic Effect of Caffeic Acid Isolated From Arctium Lappa Cultivated In Iraq, in Hyperlipidemic Rat Model
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The goal of the extant revision was to explore the influence of  caffeic acid (CA) extracted from Arctium lappa L. on lipid profile and histology of aorta  in rats .  Analytical study demonstrated a high percentage of both chlorogenic and caffeic acid in the 80 % methanol extract of the aerial parts (leaves and stems) of Arctium lappa L. from the family Asteraceace.  Hypolipidemic activity of caffeic acid was studied against cholesterol induced hypercholesterolemia in Wistar albino rats for thirty days. Rats were separated into normal group (A), hypercholesterolemic positive controller group (B). While, the rest three groups (C, D and E) attended as hypercholesterol

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Publication Date
Fri Jun 11 2021
Journal Name
Egyptian Journal Of Chemistry
Visfatin as a biomarker of obesity in iraqi adolescences with metabolic syndrome
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The present study aims to study the correlation between visfatin levels and metabolic syndrome in Iraqi obese adolescence (with and without metabolic syndrome) and its relation with other studied biochemical parameters. Sixty obese adolescences were depended in this study (with and without metabolic syndrome), compared with (30) non-obese children as control group. This study was done in the period from April 2020 until the end of December 2020, in the National Diabetes Centre/Mustansiriya University, Baghdad/Iraq. There were no significant differences in age, height, waist circumferences (WC), and diastolic blood pressure (DBP) in the patients' groups. In contrast, a significant increase differs (p<0.05) was recorded in the values of

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