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.
One hundred of dialysis patients' mean age ( 51.18±8.28) years and one hundred healthy control group , where carried out from different hospitals of Baghdad city , during the period between November /2012 until March/2013. Blood samples were collected before dialyzing for estimation the concentration of urea, creatinine, uric acid, random blood sugar , calcium and cholesterol by enzymatic method detected spectrophotometerically.
The aim of this study is to determine concentration of urea, creatinine, uric acid, RBS , calcium and cholesterol in hemodialysis patients in Baghdad . The results showed that there were highly significant increases (P<0.01) in the mean of creatinine ,
... Show MoreBackground: Vitamin D deficiency/ insufficiency is common in different age groups in both genders especially among pregnant women and neonates where it is associated with several adverse outcomes including preeclampsia and preterm delivery. Objectives: To assess the extent of vitamin D deficiency/ insufficiency among mothers and their neonates and some factors related to it and identify some adverse outcomes of the deficiency/ insufficiency on neonates (preterm birth and low birth weight). Subject and Methods: A cross-sectional study was conducted on 88 Iraqi pregnant women and neonates admitted to “Al-Elwiya teaching hospital for maternity” in Baghdad- Al-Rusafah from 1st of June 2019 to 31st of August 2019. Dat
... Show MoreIn their cross-sectional study, Al-Rubaye et al studied the extent of vitamin D (VD) deficiency/ insufficiency, factors affecting its degree, and the adverse outcomes of the altered VD status among a group of mothers and their neonates from Baghdad, Iraq. They found that 96.6% of the mothers had VD deficiency/ insufficiency compared to 86.4% in their neonates. Maternal VD levels and neonatal weights were significantly correlated with neonatal VD levels. We believe that the study results need to be revised. This is based two points listed in this letter to editor
Background: Vitamin D deficiency/ insufficiency is common in different age groups in both genders especially among pregnant women and neonates where it is associated with several adverse outcomes including preeclampsia and preterm delivery.
Objectives: To assess the extent of vitamin D deficiency/ insufficiency among mothers and their neonates and some factors related to it and identify some adverse outcomes of the deficiency/ insufficiency on neonates (preterm birth and low birth weight).
Subject and Methods: A cross-sectional study was conducted on 88 Iraqi pregnant women and neonates admitted to “Al-Elwiya teaching hospital for maternity” in Baghdad- Al
... Show MoreThis work studies the role of serum apelin-36 and Glutathione S-transferases (GST) activity in association with the hormonal, metabolic profiles and their link to the risk of cardiovascular disease (CVD) in healthy and patients' ladies with polycystic ovary syndrome (PCOS). A total of fifty-four (PCOS) patients and thirty-one healthy woman as a control have been studied. The PCOS patients were subdivided on the basis of body-mass-index (BMI), into 2-subgroups (the first group was obese-PCOS with BMI ≥ 30 and the second group was non-obese PCOS MBI<30). Fasting-insulin-levels and Lipid-profile, Homeostatic-model assessment-of-insulin-resistance (HOMA-IR), follicle-stimulating-hormone (FSH), luteinizing-hormone (LH), testosterone and
... Show MoreThis research attempts to find the association between single nucleotide polymorphism (SNP) of IL2+166 gene (rs2069763) and type 2 diabetes mellitus (T2DM) in a sample of Iraqi patients. A total of 44 patients and 55 apparently healthy volunteers were genotyped for the SNP using polymerase chain reaction test. Three genotypes (GG, GT, and TT) corresponding to two alleles (G and T) were found to have SNP. Both study groups’ genotypes had a good agreement for the analysis of Hardy-Weinberg Equilibrium. The results revealed increased frequencies between the observed and expected GG and TT genotypes and IL2+166 SNP T allele in T2DM patients (40.9 vs. 40.0 %; OR = 1.04; 95% CI, 0.47 - 2.31), whereas the values in the control group were
... Show MoreThe health care industry is witnessing an increasing trend in the use of generic medicines because of their presumed low cost compared with innovator medicines. The aim of this study was to determine and compare the performance of the copy drug Osveral®and its innovator drug deferasirox (Exjade®).
A prospective observational study including 223 patients receiving the branded medicine Exjade®and 101 patients receiving the copy Osveral®was carried out. Data were assessed for a 1-year period and included clinical symptoms, serum ferrit