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.
TWMS Journal of Applied and Engineering Mathematics | Volume: 16 Issue: 9
The analysis of time series considers one of the mathematical and statistical methods in explanation of the nature phenomena and its manner in a specific time period.
Because the studying of time series can get by building, analysis the models and then forecasting gives the priority for the practicing in different fields, therefore the identification and selection of the model is of great importance in spite of its difficulties.
The selection of a standard methods has the ability for estimation the errors in the estimated the parameters for the model, and there will be a balance between the suitability and the simplicity of the model.
In the analysis of d
... Show MoreChronic Kidney Disease (CKD) is a public health problem and many studies support the link between kidney dysfunction and cardiovascular events. Aldosterone has been shown for decades that a plasma aldosterone concentration is elevated in CKD. Whilst, Osteoprotegerin (OPG), after its capacity to protect bone, also osteoprotegerin is elevated in patients with chronic kidney disease (CKD), where it could predict the deterioration of kidney function, cardiovascular, vascular events and all-cause mortality. On the other hand, fibroblast growth factors (FGFs), in patients with CKD, its levels seem to increase progressively as kidney function worsens. The aim of the present study is to assess the correlations between serum osteoprotegerin
... Show MoreIn this work, a single pile is physically modeled and embedded in an upper liquefiable loose sand layer overlying a non-liquefiable dense layer. A laminar soil container is adopted to simulate the coupled static-dynamic loading pile response during earthquake motions: Ali Algharbi, Halabjah, El-Centro, and Kobe earthquakes. During seismic events with combined loading, the rotation along the pile, the lateral and vertical displacements at the pile head as well as the pore pressure ratio in loose sandy soil were assessed. According to the experimental findings, combined loading that ranged from 50 to 100% of axial load would alter the pile reaction by reducing the pile head peak ground acceleration, rotation of the pile, and lateral displacem
... Show More The present study is an attempt for detection of A. baumannii by conventional and PCR methods using species-specific primers for these A. baumannii. A total of 87 samples were collected from hospitals in Baghdad (Al-Rasafa and Al-Karkh Hospitals) during the period from 2019 to 2020.The samples included: 40 specimens, from wounds, respiratory infections (sputum), burns, CSF and 47 samples from the hospital environment (swabs), while samples collected from intensive care unit including patient beds, surgical instruments and appliances, emergency lobby and baby incubators. A. baumannii isolate identification depending on the morphologic characteristics on the culture media including, blood agar, MacConkey agar, as well as t
... Show MoreThis study included effect of polyherbs mixture treatment of diabetic patients type II for two months. The polyherbs mixture contains Nigella sativa seeds, Boswellia carterri gum, Citrus aurantifolia fruits, Elettaria cardamomum fruits. Also this study included estimation of some biochemical parameters in the serum Diabetes Mellitus (D.M.) patients-type II and knowing the relationship of these parameters with this disease. The parameters are glucose, cholesterol ,High density , Low density lipoproteins( HDL-C, LDL-C) respectively , Triglycerides TG, urea, total protein , albumin , Alkaline phosphatase ALP,Transaminase GOT, GPT enzymes . Take (77) samples of diabetic patients serum type II which included (47) samples for group one: herbs
... Show MoreType 2 diabetes mellitus is often characterized by hyperglycemia as a result of increased insulin resistance in hepatic/peripheral tissues and pancreactic B-cell dysfunction. Approximately 92% of patients with type 2 diabetes mellitus demonstrate insulin resistance, however hyperglycemia is always a consequence of insulin deficiency. This study was done on 120 patients newly diagnosed diabetes type 2 characterized by dyslipidemia that is increased triglycerides and decreased HDL. Hypoglycemia and weight gain are common problem with oral sulfonyl urea drugs. In this work three different oral hypoglycemic drugs repaglinide and glibenclamide (insulin secretagogues) and rosiglitazone (insulin sensitizer) were used for treatment of patients w
... Show MoreOral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen
... Show MoreOral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen
... Show More