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.
A total of 96 stool samples were collected from children with bloody diarrhea from two hospitals in Baghdad. All samples were surveyed and examined for the presence of the Escherichia coli O157:H7 and differentiate it from other Non -Sorbitol Fermenting Escherichia coli (NSF E. coli). The Bacterial isolates were identifed by using morphological diagnostic methods, Samples were cultured on liquid enrichment medium, incubated at 37C? for 24 hrs, and then cultured on Cefixime Tellurite -Sorbitol MacConkey Agar (CT- SMAC). 32 non-sorbitol fermenting bacterial isolates were obtained of which 11 were identified as Escherichia coli by using traditional biochemical tests and API20E diagnostic system without differentiation between
... Show MoreIA Ali, FK Emran, DF Salloom, Annals of the Romanian Society for Cell Biology, 2021
A case-control study was performed to examine age, gender, and ABO blood groups in 1014 Iraqi hospitalized cases with Coronavirus disease 2019 (COVID-19) and 901 blood donors (control group). The infection was molecularly diagnosed by detecting coronavirus RNA in nasal swabs of patients.
Mean age was significantly elevated in cases compared to controls (48.2 ± 13.8
Brucellosis is possess a significant public health problem in Baghdad. In this study, we investigated the potential role of the PCR assay in detection of Brucella species, from patients suspect to have brucellosis, using blood samples in both human and animal. To establish a PCR technique for diagnosis of active brucellosis in our samples, DNA extraction was carried out using a commercial kit, and a laboratory extraction procedure. PCR amplification was done using 1 set of primers: B4/B5 for Brucella species. Extraction of Brucella DNA using the commercial kit was successful. The laboratory extraction was successful and more economic. A total of 178 peripheral blood
... Show MoreThe new liganed Schiff base named [(E)-3-hydroxy-4-((3,4,5- trimethoxybenzylidene)amino) naphthalene-1- sulfonic acid] was synthesized from 3,4,5-trimethoxybenzyldehyde and 1-amino-2-aphthol-4- sulfonic acid in equal molar ratio. A series of new metal complexes' of the common molecular formulation [M(L)2(H2O)2].H2O are synthesized and characterized by IR, UV–Vis spectra, mass spectra, atomic absorption, elemental analyses, chloride content, magnetic susceptibility and conductivity measurements as well as thermo gravimetric analysis (TGA, DSC). Consistent with results of the magnetic and spectral studies, the advised geometrical structures for all of the prepared complexes have been octahedral formula
The problem of the research lies in special motor abilities training programs like the balance that positively affect coordination between the nervous system and muscles. These training programs did not get enough attention from athletes especially young athletes; their training was restricted to physical abilities like strength, speed, and endurance instead. The research aimed at designing an apparatus for developing athletes’ balance in national centers for gifted/ ministry of youth and sport so as to provide a measurement for coached in this field. The results showed that the designed apparatus have a positive effect on developing the subjects’ balance in boxing and basketball athletes.
Numerous academic and critical studies concerned with the language of poetry, with the differences and diversity in these studies and the critical methods. , the study tries to study this modern approach in the language Iraqi and Arabic poetry according to analyzing and following the functional dimension of the language, regardless of its poetic value which should be on them, as each poetic experience has its own language, thestudy came to investigate the variety of poetry samples, poets from different and far generations. - in an attempt to give an image Career dimension of language, the center of intellectual transformations that have affected the experience of Arabic poetry generally, and the level of language to be exact, as a tool f
... Show MoreBACKGROUND: Montelukast (Singulair) is a cysteinyl leukotriene receptor antagonist, used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergic rhinitis and asthma, also used for exercise-induced bronchospasm. AIM: This study was performed to determine the prevalence of Montelukast use as an add-on therapy among Iraqi asthmatic patients on treatment. Comparing the effectiveness of regimens with and without montelukast. METHODS: This descriptive cross-sectional study was carried out on 73 Iraqi asthmatic patients on treatment of both sexes with age range (18-60) years old, attending Al-Kindy Teaching Hospital and Al-Zahraa Centre of Asthma and Allergy, Baghdad, for the period between February
... Show MoreBACKGROUND: Montelukast (Singulair) is a cysteinyl leukotriene receptor antagonist, used for the maintenance treatment of asthma and to relieve symptoms of seasonal allergic rhinitis and asthma, also used for exercise-induced bronchospasm. AIM: This study was performed to determine the prevalence of Montelukast use as an add-on therapy among Iraqi asthmatic patients on treatment. Comparing the effectiveness of regimens with and without montelukast. METHODS: This descriptive cross-sectional study was carried out on 73 Iraqi asthmatic patients on treatment of both sexes with age range (18-60) years old, attending Al-Kindy Teaching Hospital and Al-Zahraa Centre of Asthma and Allergy, Baghdad, for the period between February
... Show MoreIn this study, the antimicrobial properties of newly synthesized Schiff bases (4a-4e) and thiazolidinone compounds (5a-5e) generated from 3,5-dinitrobenzoic acid were assessed. These compounds were obtained by reacting 3,5-dinitrobenzoic acid (1) with ethanol in a few drops of concentrated H2SO4 to produce the ester (2). The acid hydrazide (3), which was produced by treating the ester with hydrazine hydrate, reacted with the proper aldehydes, including 4-bromobenzaldehyde, 4-chlorobenzaldehyde, 4-hydroxybenzaldehyde, 4-methoxybenzaldehyde, and 4-hydroxy-3-methoxybenzaldehyde, respectively, to form Schiff bases (4a-4e). The thiazolidinone compounds (5a-5e) were produced by the cyclocondensation reaction of compounds (4a-4e) with thio
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