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.
Breast cancer is the most prevalent malignancy among women worldwide, in Iraq it ranks the first among the population and the leading cause of cancer related female mortality. This study is designed to investigate the correlations between serum and tissue markers in order to clarify their role in progression or regression breast cancer. Tumor Markers are groups of substances, mainly proteins, produced from cancer cell or from other cells in the body in response to tumor. The study was carried out from April 2018 to April 2019 with total number of 60 breast cancer women. The blood samples were collected from breast cancer women in postoperative and pretherapeutic who attended teaching oncology hospital of the medical city in Baghdad and
... Show MoreAdherence to cardiac medications makes a significant contribution to avoidance of morbidity and premature mortality in patients with cardiovascular disease. This quantitative study used cross‐sectional survey design to evaluate medication adherence and contributing factors among patients with cardiovascular disease, comparing patients who were admitted to a cardiac ward (
Background Osteoarthritis is a chronic degenerative disorder with rising prevalence. Early detection of structural damage is difficult. Consequently, there is a pressing demand for reliable biomarkers that enable an earlier diagnosis of osteoarthritis. The aim is to investigate the level of serum fibulin-3 in patients with primary knee osteoarthritis and its correlation with disease severity. Subjects and methods A case–control study was conducted at the Baqubah Teaching Hospital from November 2023 to January 2024. One hundred twenty persons participated in this study (eighty females with the diagnosis of knee osteoarthritis in its early and late stages, and forty age-matched, apparently healthy control. Serum fibulin-3, ESR, CRP, and cal
... Show MoreAbstract
The research aims to identify the mediator role of workplace spirituality in the relationship between psychological capital and entrepreneurial behavior: field research to a sample opinions from employees at the center of the Iraqi ministry of Oil . The importance of the current research emerged from paucity of studies that have attempted to identify and know the nature of the relationship between the variables as well as trying to find the current address and realistic problem directly affects the performance of employees in the Iraqi oil sector.
In order to achieve the goal of research the use of the analytical method (quantitative)
... Show MoreThe aim of this study is to determine the organic and inorganic components of bile and gallstones in Iraqi patients. Forty seven patients were included in this study with mean age (53+7) years and BMI (30.82+4.18) Kg/m2. Bile was classified according to its corresponding stones into: Bile of Mixed stones and Bile of pigment stones. IR spectra were studied for both types of stones and their bile in addition to biochemical analysis for organic and inorganic components. The organic components include: (cholesterol, bilirubin, bile salts, and phospholipids), while inorganic components include salts of: (calcium, phosphorus, iron, cupper and magnesium). The results reveal to there was significant low levels (p<0.005) of bile salts and phospholi
... Show MoreThe present work reports on the performance of three types of nanofiltration membranes in the removal of highly polluting and toxic lead (Pb2+) and cadmium (Cd2+) from single and binary salt aqueous solutions simulating real wastewaters. The effect of the operating variables (pH (5.5-6.5), types of NF membrane and initial ions concentration (10-250 ppm)) on the separation process and water flux was investigated. It was observed that the rejection efficiency increased with increasing pH of solution and decreasing the initial metal ions concentrations. While the flux decreased with increasing pH of solution and increasing initial metal ions concentrations. The maximum rejection of lead and cadmium ion
... Show MoreDermatophytes are species with slight genetic variation, and are yet several uncertainties about the differences among species. This study aims to isolate and diagnose the Trichophyton interdigitale by molecular technique and to reveal the phylogenetic distance and similarity of the Iraqi isolates to other isolates from the globe, in addition, to submit the obtained sequences to the NCBI database. This study included 86 with multiple lesions on different parts of the body. The results showed different variations within the ITS gene between the isolates. It was concluded that Trichophyton interdigitale in Iraqi isolates had two types of substitution variations (Transition and Transversion) different than global isolates. Moreover, it
... Show MoreThis study was conducted to determine the side effects of dexamethasone n some physiological and immunological criteria, which included, Measuring sugar level, liver (ALT, AST , LDH, Total protein) and kidney function (urea, createnine), total and differential count of W.B.C,CRP, TNF-α ,IL6,IL10. thirty rats were divided into two groups (15\ rat). G1: This group was considered negative control injection with normal saline, G2: This group was injected with 2 mg\kg dexamethasone. The results showed a significant increase in the level of enzymesALT, AST and sugar levels and decreased level of total protein in the group treated with the drug, also showed, a significant decrease in the total number of W.B.C an
... Show MoreObjective; swine flu is known to be caused by influenza A subtypes H1N1,H1N2, H2N3, H3N1, and H3N2, was first proposed to be a disease related to human flu during the 1918 flu pandemic, Iraq face the epidemic of 2009, many patients admitted to the medical word of alkindy teaching hospital, the clinical features were observed and managed according to WHO protocols.
The aim of the study; is to asses some features of morbidity and mortality of swine flu epidemic admitted patients in 2009 in alkindy teaching hospital.
Methods; A total 131 patients with suspected influenza
admitted to Alkindy Teaching Hospital all complain of
fever more than 38c, sore throat with or without cough.
The admitted patients are of two main
groups
Objective; swine flu is known to be caused by influenza A subtypes H1N1,H1N2, H2N3, H3N1, and H3N2, was first proposed to be a disease related to human flu during the 1918 flu pandemic, Iraq face the epidemic of 2009, many patients admitted to the medical word of alkindy teaching hospital, the clinical features were observed and managed according to WHO protocols.
The aim of the study; is to asses some features of morbidity and mortality of swine flu epidemic admitted patients in 2009 in alkindy teaching hospital.
Methods; A total 131 patients with suspected influenza
admitted to Alkindy Teaching Hospital all complain of
fever more than 38c, sore throat with or without cough.
The admitted patients are of two main
groups