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.
Acute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs
... Show MoreBackground: Lead-acid battery workers are at higher risk for systemic diseases as well as oral diseases like dental caries. The aim of this study was to assess selected salivary antioxidants and their relation with dental caries among lead acid battery factory workers in comparison with non-exposed group. Materials and methods: The sample consisted of 35 subjects aged 35-45 year-old who worked in Babylon lead acid battery factory in Baghdad city and matching group that not exposed to lead were selected as a control. Dental caries severity was recorded by using DMFS index, stimulated salivary samples were collected and analyzed for the measurement of salivary antioxidants (uric acid, total protein, catalase and glutathione peroxidase enzymes
... Show MoreThe corrosion inhibition effect of a new furan derivative (furan-2-ylmethyl sulfanyl acetic acid furan-2-ylmethylenehydrazide) on mild steel in 1.0 M HCl was investigated using corrosion potential (ECORR) and potentiodynamic polarization. The obtained results indicated that the new furan derivative (furan-2-ylmethyl sulfanyl acetic acid furan-2-ylmethylenehydrazide) (FSFD) has a promising inhibitive effects on the corrosion of mild steel in 1.0 M HCl across all of the conditions examined. The density functional theory (DFT) study was performed on the new furan derivative (FSFD) at the B3LYP/6-311G (d, p) basis set level to explore the relation between their inhibition efficiency and molecular electro
Background: Clinicians and investigators consider the normal range of bowel habit and frequency as between 3 to 21 motions per week . Stool frequency out side the normal range may be unusual but may not be abnormal in the sense of a disease . And according to the consistency, the normal stool ranges from porridge like to hard and pellety .Objectives: To establish a basic data about the bowel habits (consistency and frequency) in a sample of healthy Iraqi population; in addition to learn about their definition of constipation and diarrhea.Methods: Prospective study from Jan 2000- Jun 2000 at Al-Yarmouk teaching hospital, Baghdad. Questionnaires were distributed to 950 healthy persons of different age group .The questionnaire included: Det
... Show MoreClinicians and investigators consider the normal range of bowel habit and frequency as between 3 to 21 motions per week. Stool frequency outside the normal range may be unusual but may not be abnormal in the sense of a disease, and according to the consistency, the normal stool ranges from porridge like to hard and pellety.
Objectives: To establish a basic data about the bowel habits (consistency and frequency) in a sample of healthy Iraqi population; in addition to learn about their definition of constipation and diarrhea.
Methods: Prospective study from Jan 2000- Jun 2000 at Al-Yarmouk teaching hospital, Baghdad. Questionnaires were distributed to 950 healthy persons of different age group .The questionnaire included: Detailed hi
A Modified version of the Generlized standard addition method ( GSAM) was developed. This modified version was used for the quantitative determination of arginine (Arg) and glycine ( Gly) in arginine acetyl salicylate – glycine complex . According to this method two linear equations were solved to obtain the amounts of (Arg) and (Gly). The first equation was obtained by spectrophotometic measurement of the total absorbance of (Arg) and (Gly) colored complex with ninhydrin . The second equation was obtained by measuring the total acid consumed by total amino groups of (Arg) and ( Gly). The titration was carried out in non- aqueous media using perchloric acid in glacial acetic acid as a titrant. The developed metho
... Show MoreObesity is an escalating health problem in developing countries. One to ten children worldwide are overweight in a report showed by the International Obesity Task Force. Ghrelin, orexigenic peptide, has 28 amino acids, it is considered the greatest remarkable promotion in the last two decades for understanding the physiological changes of action regulating food intake and hunger. Obestatin is a 23-amino acid peptide nearly connected to ghrelin that secures from substitutio
... Show MorePharmaceutical companies assign a budget for activities and promotions that aim to change the prescription habits of the physicians to choose the most suitable medications for their patients, which will eventually grow their sales. The study's objectives were to explore physicians' and medical representatives' perspectives on the criteria of impactful professional PP and the factors influencing the interaction between physicians and medical representatives. Qualitative in-depth interviews with flexible probing techniques were carried out in 2023. A semi-structured, open-ended interview questionnaire was used to interview physicians and medical representatives (MRs) from different private clinics in several governorates in Iraq. Ten physicia
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