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.
Human cytomegalovirus (HCMV) has a worldwide distribution and extremely common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers especially breast cancer. In Iraq, the incidence of breast cancer generally exceeds any other type of malignancies among Iraqi population. The study was performed in the period between October 2016 and June 2017 in Central public health laboratory/Baghdad. It involve samples from 90 women including 60 breast cancer patients, 20 benign tumor patients, and 10 normal breast tissues. A blood sample was obtained from each woman included in this study. Anti-HCMV IgG antibody was presented in 9/10 (90%) of normal women, benign breast tumor patients 19/20 (95%) and malig
... Show MoreAIM: To analyse our experiences in the management of traumatic retroperitoneal hematoma (RPH), highlighting the various challenges faced and to report on the outcome of these patients. METHODS: From May 2014 to May 2017, all patients with traumatic RPH who underwent surgical treatment were retrospectively analysed. The kind of injury, intraoperative findings, sites of hematoma, postoperative morbidity and the overall outcomes were recorded. RESULTS: Ninety-six patients; 53 with blunt trauma and 43 with penetrating injury, were included in this study. The centre-medial hematoma was observed in 24 (25%) patients, lateral hematoma in 46 (47.9%) patients, pelvic hematoma in 19 (19.8%) patients, and multiple zone hematomas in
... Show MoreThis study experimentally investigated Free-Fall Gravity Drainage (FFGD) under combination-drive conditions in a two-dimensional Hele-Shaw model representing a water-drive reservoir. An initially high gravity potential from the oil column enabled early oil drainage before aquifer support became dominant. Three water-drive strengths were tested, demonstrating that a stronger aquifer (1.15 psig) accelerated oil recovery to approximately 75% of the original oil in place (OOIP) within 60 minutes, resulting in a final recovery of 79.5%. However, this was accompanied by rapid water breakthrough after 2.5 minutes and high-water cuts exceeding 90%. In contrast, a weaker aquifer (0.725 psig) stabilized the oil–water contact, delaying w
... Show MoreIntroduction: The therapeutic efficacy of erythropoietin (EPO) may be diminished by the formation of anti-erythropoietin antibodies (AEAs), potentially resulting in therapy failure. Objectives: This retrospective study included 84 hemodialysis patients with end-stage renal disease (ESRD) treated with recombinant EPO and aimed to evaluate the association between serum AEA and treatment response. Patients and Methods: This cross-sectional study included eighty-four Iraqi patients with ESRD who had been on recombinant human EPO for more than 6 months and had hemoglobin levels below 11 g/dL. Serum AEA levels were measured in all patients to evaluate their association with treatment response and to investigate correlations with demograph
... Show MoreThe developments in forensic DNA technology have led us to perform this study in Iraqi population as reference database of autosomal Short Tandem Repeat (aSTR) DNA markers . A total of 120 unrelated individuals from Wasit province were analyzed at 15 STR DNA markers. Allele frequencies of DNA typing loci included in the AmpFlSTR1 IdentifilerTM PCR Amplification Kit panel from Applied Biosystems (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, TH01, TPOX, CSF1PO, D19S433, D2S1338, D16S539) and several forensic efficiency statistical parameters were estimated from all the sample. the combined Matching Probability (CMP) using the 15 STR genetic loci in Iraqi population was estimated at 1 in 2.08286E-18 and the Combined
... Show MoreThis work aimed to use conventional PCR to identify Salmonella spp. that were isolated from diarrheal children and healthy and diarrheic dogs based on four virulence genes, hilA, stn, spvR, and marT. Sixteen Salmonella isolates including: 9 isolated from children's diarrhea from three species (S. Typhimurium, S. Enteritidis, S. Typhi) and seven isolated from dogs including (S. Typhimurium, S. Enteritidis, S. Muenchen), were identified primarily by several methods. The PCR products of the 16S rRNA gene were sequenced and examined using BLAST analysis to find differences and similarities between these Iraqi isolates and already-known global strains in order to construct the phylogenetic tree of S.
... Show MoreOut of 150 clinical samples, 50 isolates of Klebsiella 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 25 (50%) of isolates were resistant to gentamicin (≥16µg/ml), 22 (44%) of isolates were resistant to amikacin (≥64 µg/ml), 21 (42%) of isolates were resistant to ertapenem (≥8 µg/ml), 18 (36%) of isolates were resistant to imipenem (4- ≥16µg/ml), 43 (86%) of isolates were resistant to ceftriaxone (4- ≥64 µg/ml), 42 (84%) of isolates were resistant to ceftazidime (1
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