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.
Background: Arylesterase activity of Paraoxonase-1 (ARE-PON-1) exhibits an antioxidant role which protects lipoprotein from oxidation. It is known that ARE-PON-1 antioxidant activity associated with high density lipoprotein cholesterol (HDL-C) reduces the oxidative damage mediated by low density lipoprotein cholesterol (LDL-C). The present study was aimed to examine the level of serum ARE-PON1 in Iraqi patients with β-thalassemia minor and its relationship with lipid profile (total cholesterol (TC), HDL-C, very low density lipoprotein (VLDL-C), and LDL-C) and hematologic changes as a part of antioxidant system action. Methods: In the present study, the ARE-PON-1 activity was investigated in serum of patients with β-thalassemia minor. Resu
... Show MoreDiabetes mellitus type 2 (T2DM) is a chronic and progressive condition, which affects people all around the world. The risk of complications increases with age if the disease is not managed properly. Diabetic neuropathy is caused by excessive blood glucose and lipid levels, resulting in nerve damage. Apelin is a peptide hormone that is found in different human organs, including the central nervous system and adipose tissue. The aim of this study is to estimate Apelin levels in diabetes type 2 and Diabetic peripheral Neuropathy (DPN) Iraqi patients and show the extent of peripheral nerve damage. The current study included 120 participants: 40 patients with Diabetes Mellitus, 40 patients with Diabetic peripheral Neuropathy, and 40 healthy
... Show MoreMany diseases can produce cardiac overload, of these disease hypertension, valve disease congenital anomaly in addition to many other disease. One of the most common diseases causing left ventricle overload is hypertension. A long term hypertension can cause myocardium hypertrophy leading to changes in the cardiac contractility and reduced efficiency. The investigations were carried out using conventional echocardiography techniques in addition to the tissue Doppler imaging (TDI) from which many noninvasive measurements can be readily obtained. The study has involved the effect of hypertension on the myocardium stiffness index through the measurement of early diastolic filling (E) and the early velocity of lateral mitral annulus (E
... Show MoreMany diseases can produce cardiac overload, of these disease hypertension, valve disease congenital anomaly in addition to many other disease. One of the most common diseases causing left ventricle overload is hypertension. A long term hypertension can cause myocardium hypertrophy leading to changes in the cardiac contractility and reduced efficiency. The investigations were carried out using conventional echocardiography techniques in addition to the tissue Doppler imaging (TDI) from which many noninvasive measurements can be readily obtained. The study has involved the effect of hypertension on the myocardium stiffness index through the measurement of early diastolic filling (E) and the early velocity of lateral mitral annulus (Ea
... Show MoreIntroduction and Aim: The pro-inflammatory cytokine IL-39, a member of the IL-12 family plays a key role in the inflammatory response by modulating immune cell activity and inflammation. A literature search shows no study undertaken for the effect of IL-39's on arthritis so far. Hence, the purpose of this study was to investigate the role of IL-39 in rheumatoid arthritis. Materials and Methods: This study involved 80 patients with rheumatoid arthritis registered at the Rheumatology Clinic at Baghdad teaching hospital. The patients were divided into three groups based on treatments received. Group 1 included patients who were not on any treatment for arthritis, Group 2 with patients on hydroxychloroquine and or prednisone treatment,
... Show MoreThe study of biomechanical indicators in the arc of the run and the upgrading stage is one of the important variables that affect the nature of the upgrading and thus affect the result of the race due to the importance of these stages and the consequent variables during the last steps. That’s why, the jump-trainings based on assistant means or body weight positively affect the step-time for each of the three steps in the acceleration arc. As well as, it focuses on the momentary strength of each step at this stage. It also significantly affects the speed of motor performance to suit the activity in which the runner needs to perform perfect steps with high flow in order to convert the horizontal speed to a vertical one. This is achieved thr
... Show MoreBackground: The Andrews’ six keys of normal occlusion contribute individually and collectively to the total scheme of occlusion and, therefore, are viewed as essential to successful orthodontic treatment. The present research aims to evaluate the presence of the parameters of the Andrews’ Six Keys of normal occlusion in a sample of 100 Iraqi adults with complete permanent dentition and clinically acceptable normal occlusion (Angle’s Class I) in Baghdad city. Their age range 18-25 years (60 males and 40 females). Materials and methods: Each patient was subjected to clinical examination and then study cast models were made, with their occlusal records. The measuring tools that have been used involved: Three-dimensional goniometer to me
... Show MoreOsteoporosis is a prevalent systemic metabolic disorder characterized by a reduction in bone mass and bone density, damage in microstructure of bone tissue, and raised bone fragility causing of fracture susceptibility. This study included 189 Iraqi adults aged 45–75 years, evaluating serum levels TGF-β3 and WNT5A across three groups: healthy individuals (n = 31) as control, those with primary osteoporosis/osteopenia (n = 61), and with comorbidity-related osteoporosis (linked to β-thalassemia, parathyroid disorders or diabetes; n = 97). Among those, β-thalassemia-associated osteoporosis patients showed the most distinct decrease in bone mineral density (0.57 ± 0.078 g/cm², p < 0.0001) along with marked increases in WNT5A (0.89 ± 0.68
... Show MoreThis study aimed to evaluate the effect of the COVID-19 outbreak on emergencies and pain among orthodontic patients attending a teaching hospital. The study was conducted among orthodontic patients receiving active orthodontic treatment or in a retention period at the College of Dentistry, University of Baghdad, Iraq. Their participation was voluntary, and they filled out an Arabic-translated questionnaire. The survey included general information, orthodontic problems, and a numerical rating scale for pain assessment. We used descriptive and inferential statistics (frequencies and intersecting frequencies), chi-square test and linear regression. Out of 75 orthodontic patients, only 54 (15 males and 39 females) were included in the s
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