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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 Dec 28 2025
Journal Name
مجلة جامعة صنعاء للعلوم التطبيقية والتكنولوجيا
From Algorithms to Applications: A Review of AI-Based Face Recognition and Identity Verification
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Face recognition and identity verification are now critical components of current security and verification technology. The main objective of this review is to identify the most important deep learning techniques that have contributed to the improvement in the accuracy and reliability of facial recognition systems, as well as highlighting existing problems and potential future research areas. An extensive literature review was conducted with the assistance of leading scientific databases such as IEEE Xplore, ScienceDirect, and SpringerLink and covered studies from the period 2015 to 2024. The studies of interest were related to the application of deep neural networks, i.e., CNN, Siamese, and Transformer-based models, in face recogni

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Publication Date
Thu Mar 30 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of the Role of Interleukein-2 and Interleukein-4 in the Immunopathogenesis of Steroid Therapy Resistance in Iraqi Asthmatic Patients
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Interleukins (IL-2 and IL-4) are increased in asthmatics and were reported to induce resistance to steroid therapy in some patients who fail to get benefit from glucocorticoids when used in full dose and for long period of time. In this context, the present study was conducted on Iraqi patients to provide additional laboratory mean, beside the clinical diagnosis, for the decision whether the asthma is steroid sensitive or resistant by monitoring the level of immunoglobulins, complement proteins and interleukins among asthmatic patients (steroid sensitive or resistant) and the possible contribution of other factors like age, sex and environments in the development of steroid resistance. A total number of 55 asthmatics and 28 normal subjec

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Publication Date
Sun Mar 13 2011
Journal Name
Baghdad Science Journal
Bacteriological and Cytological study For bronchial washes from lung cancer patients
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The study included the collection of 75 bronchial wash samples from patients suspected to have lung cancer. These samples were subjected to a diagnostic cytological study to detect the dominant type of lung cancer. It was noticed that 33 patients proved to have a lung cancer out of 75 (44%) of these, 19 cases (57.6%)were diagnosed having Squamus cell carcinoma,7cases (21.21%) showed Adenocarcinoma ,6 cases (18.18%) were having small cell carcinoma while only one case (3.03%)was large cell carcinoma .Nearly 70% of cases were correlated with smokers .Bacteria were isolated from 53 patients in which 33 isolates were associated with the cancer cases while 20 of them from non infected patients. By using different morphological ,biochemical test

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Publication Date
Sun Mar 10 2013
Journal Name
Journal Of Life Sciences And Technologies
Synthesis, Characterization, and Anti-Microbial Study of Metal Complexes of Polycyclicacetal derived from PVA & Erythro-Ascorbic acid derivative
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The aim of this work is the synthesis of new grafted PVA polymer with a derivative of Erythro-ascorbic acid (pentulosono-ɣ -lactone-2, 3-enedianisoate). All synthesized compounds were characterized by thin layer chromatography (TLC) and FTIR spectra and aldehyde was also characterized by (U.V-Vis), 1HNMR, 13CNMR and mass spectra. They were also evaluated for antimicrobial properties by dilute method against four pathogenic bacteria (Escherichia coli ,Klebsiella pneumonae, Staphylococcus aureus, Staphylococcus Albus) and two fungal (Aspergillus Niger, Yeast). All polymer metal complexes showed good activities against the various microbial isolates. The polymer metal complexes showed higher activity than the free polymer. The order of increa

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Publication Date
Mon Mar 15 2021
Journal Name
Egyptian Journal Of Chemistry
Solvent-free synthesis of new chalcone derivatives from 3-nitro phthalic acid and evaluation of their biological activities
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Synthesis of 2-(4-Acetyl-phenyl)-4-nitro-isoindole-1, 3-dione chalcones were performed by fusion of 3-nitro phthalic anhydride with p-aminoacetophenone. Then the later was grinded with different aromatic aldehydes in the presence of sodium hydroxide to produce new chalcones derivatives A3-10 without using any solvent formation of new N- arylphthailimide chalcones were confirmed by FT-IR,1HNMR, 13CNMR spectroscopy and all final compounds were tested for their antifungal and antibacterial activity some of them showed more biological activity than the standard drugs

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Publication Date
Mon Mar 15 2021
Journal Name
Egyptian Journal Of Chemistry
Solvent-free synthesis of new chalcone derivatives from 3-nitro phthalic acid and evaluation of their biological activities
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A theoretical and protection study was conducted of the corrosion behavior of carbon steel surface with different concentrations of the derivative (Quinolin-2-one), namly (1-Amino-4,7-dimethyl-6-nitro-1H-quinolin-2-one (ADNQ2O)). Theoretically, Density Functional Theory (DFT) of B3LYP/ 6-311++G (2d, 2p) level was used to calculate the optimized geometry, physical properties and chemical inhibition parameters, with the local reactivity to predict both the reactive centers and to locate the possible sites of nucleophilic and electrophilic attacks, in vacuum, and in two solvents (DMSO and H2O), all at the equilibrium geometry. Experimentally, the inhibition efficiencies (%IE) in the saline solution (of 3.5%) NaCl were studied using potentiomet

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Publication Date
Mon Oct 19 2026
Journal Name
Al–bahith Al–a'alami
EMPLOYING TWITTER IN THE U.S. PRESIDENTIAL ELECTION CAMPAIGN IN 2016: U.S. PRESIDENTIAL CANDIDATE DONALD TRUMP’S TWEETS AS A “MODEL”: (A Research Drawn from a Master’s Thesis) (An Analytical Study)
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This study aimed to identify the employment of the social networking platform «Twitter» in the 2016 presidential campaign led by the Republican candidate, Donald Trump; and analyse his tweets through his personal account on «Twitter»  for the period from: 10/ 8/2016 to: 11/ 8/2016 which represents the last month of the election campaign.

The study belongs to the type of descriptive studies using the analytical method through an analysis index that includes sub-categories and other secondary categories. The research has adopted the ordinary unit of information material (tweet) as an analysis unit for this purpose.

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Performance quality of single and ?two stage solar concentrators
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The performance of single and two stage solar concentrator were studied ' " The ratio of the primary to the secondary mirrors diameter is taking to be 0.5, depending on the theoretical calculation for the accumulated energy by the concentrator with ratio between 0.0 to 0.9. The design of the systems were designed and examined by using a ray-tracing program. The efficiency of the single and the two stage concentrators are calculated and compared with and without cooling systems.

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Publication Date
Mon Jul 10 2023
Journal Name
Journal Of Engineering
Design and Implementation of Single-Phase Boost PFC Converter
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In this paper, a single-phase boost type ac-dc converter with power factor correction (PFC) technique is designed and implemented. A current mode control at a constant switching frequency is used as a control strategy for PFC converter. The PFC converter is a single-stage singleswitch boost converter that uses a current shaping technique to reshape the non-sinusoidal input current drawn by the bulky capacitor in the conventional rectifier. This technique should provide an input current with almost free-harmonics, comply with the IEC61000-3-2 limits, and a system operates with near unity power factor. The other function of the boost converter that should be
accomplished is to provide a regulated DC output voltage. The complete designed

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Publication Date
Fri Jul 19 2024
Journal Name
Baghdad Science Journal
The correlation between micro-RNA 146a and IL-17 in the serum of Iraqi patients with cystic echinococcosis
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داء المشوكات الكيسي (CE) هو مرض وبائي يسبب مرضًا خطيرًا وخسائر اقتصادية في معظم بلدان العالم. MiRNAs هي عامل جيني ضروري لتنظيم الاستجابة المناعية من خلال قدرته على التدخل في التعبير الخلوي ؛ واحد هذه الحوامض النووية الدقيقة -146 أ. هدفت الدراسة الحالية تقييم إذا كان بإمكاننا استخدام microRNA 146a كمؤشر حيوي للكشف عن    CEو تحديد العلاقة بين التعبير الجيني microRNA 146a و IL-17 في مرضى CE.حيث اشتملت الدراسة على 50 مريضًا من CE تم إد

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