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.
A modification to cascaded single-stage distributed amplifier (CSSDA) design by using active inductor is proposed. This modification is shown to render the amplifier suitable for high gain operation in small on-chip area. Microwave office program simulation of the Novel design approach shows that it has performance compatible with the conventional distributed amplifiers but with smaller area. The CSSDA is suitable for optical and satellite communication systems.
Rivers Tigris and Euphrates, as well as the wetlands in southern Iraq and the Diyala River, were all included in the evaluation of earlier studies on the variety and factors impacting fish in Iraqi waters. Different studies documented different types, and the number of species recorded varied between the studies, which could be explained by the registration of some species, synonyms, differs from the registration of some species with synonymous names By mistake, as well as recording new species in times that followed some previous studies, Also, the difference in some factors, including the pollution of some waterways, leads to a difference in the existing species, so we find the presence of species that are tolerant of pollution. There are
... Show MoreIn recent years the interest in fractured reservoirs has grown. The awareness has increased analysis of the role played by fractures in petroleum reservoir production and recovery. Since most Iraqi reservoirs are fractured carbonate rocks. Much effort was devoted to well modeling of fractured reservoirs and the impacts on production. However, turning that modeling into field development decisions goes through reservoir simulation. Therefore accurate modeling is required for more viable economic decision. Iraqi mature field being used as our case study. The key point for developing the mature field is approving the reservoir model that going to be used for future predictions. This can
s The study aims to identify the fairness in the distribution of municipal services between municipal districts and areas, from point of view of municipal chamber staff and from the point of view of the citizen. It also aims to identify factors affecting the fairness of the distribution of municipal services. Municipal services were being studied : hygiene and waste, water supply, sewer, creating gardens, and street paving .Factors which examined its impact on municipal services are: resources available to municipal chamber, the managerial process at municipal chamber, and factors in the external environment surrounding municipal chamber.The results of the study showed that level of the e
... Show MoreAround 65 million individuals suffer from epilepsy worldwide, and when it is not properly treated, it is linked to higher rates of physical harm and mortality. Due to the requirement for long‐term therapy and the side effects of many medications, medication compliance is a significant issue. The purpose of this review was to summarize the findings of previous studies examining the quality of life (QOL), adherence, patient education, and medication knowledge, as well as the impact of a pharmacist‐led educational intervention. Additionally, to find out if these studies benefit epileptic patients, to find the appropriate method used to help them in all aspects of their lives, and to use these in future studies. A systematic and comprehensi
... Show MoreThis paper examines the impact of the organizational culture prevailing at the university center, Ali KafiTindouf, on the quality of the educational service provided by the university center Ali KafiTindouf from the point of view of the teachers of the center. The questionnaire method was used to determine the effect between the variables studied, by the distribution of 33 questionnaires on a random sample of the study community.
The study found that the organizational culture prevailing at the university center of Ali KafiTindouf contributed to reaching higher levels in the awareness and quality of the educational service provided by the teachers of the center.<
... Show MoreTV drama has gone through many developmental stages until it reached and settled in the form of TV series of thirty episodes. Alongside the development of the TV technologies and the widespread of satellite channels, the form of the TV drama has changed and the series has consisted of two parts and then parts multiplied until they amounted to ten parts and more. This form of TV drama has become an artistic phenomenon, that once the series is displayed on one of the channels and achieves a noticeable success, its producers work to produce a second part of that series and so on. This form of TV drama has remained away from being researched.
This has urged the researcher to accomplish this study entitled (TV series of multiple parts fro
Background: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p
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