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: Tumor necrosis factor-alpha (TNF-α) and interleukins play important roles in the pathogenesis of rheumatoid arthritis (RA). Genetic research has been employed to find many of the missing connections between genetic risk variations and causal genetic components. Objective: The goal of this study is to look at the genetic variations of TNF-α and interleukins in Iraqi RA patients and see how they relate to disease severity or response to biological therapy. Method: Using specific keywords, the authors conducted a systematic and comprehensive search to identify relevant Iraqi studies examining the genetic variations of TNF-α and interleukins in Iraqi RA patients and how they relate to disease severity or response to biolo
... 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 MoreIntroduction: Diabetic foot infections are one of the most severe complications of diabetes. This study was aimed to determine the common bacterial isolates of diabetic foot infections and the in vitro antibiotic susceptibility then treatment.
Methods: A swab was taken from the foot ulcer, and the aerobic bacteria were isolated and identified by cultural, microscopic and biochemical test, then by api-20E system. After that their antibiotic susceptibility pattern was determined. Then local and systemic treatment was used to treat the diabetic foot patients.
Results: Bacterial isolates belonging to twelve species were obtained from diabetic foot patients. Gram (-) bacteria were the predominant pathogens in the diabetic foot infection
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.
In this paper, an algorithm is suggested to train a single layer feedforward neural network to function as a heteroassociative memory. This algorithm enhances the ability of the memory to recall the stored patterns when partially described noisy inputs patterns are presented. The algorithm relies on adapting the standard delta rule by introducing new terms, first order term and second order term to it. Results show that the heteroassociative neural network trained with this algorithm perfectly recalls the desired stored pattern when 1.6% and 3.2% special partially described noisy inputs patterns are presented.
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
Ursolic acid (UA, 3 ?-hydroxy-urs-12-en-28-oic acid) are isomeric triterpenic acids. The high quantities of pentacyclic triterpenoids in Scabiosa species seems to be obvious and there is an evidence that most of pentacyclic triterpenoids that have been isolated are saponins. This is one of the most important characteristic of the genus Scabiosa, the main aglycones are ursolic acid and oleanolic acid. In the current study, isolation from the aerial part and roots of Scabiosa palaestina L. was performed using Preparative HPLC. Furthermore, detection and quantitation of ursolic acid was performed by high performance thin layer chromatography (HPTLC). The identification of isolated triterpenoid involves two methods including FT-IR coupl
... Show MoreWe consider the outflow of water from the peak of a triangular ridge into a channel of finite depth. Solutions are computed for different flow rates and bottom angles. A numerical method is used to compute the flow from the source for small values of flow rate and it is found that there is a maximum flow rate beyond which steady solutions do not seem to exist. Limiting flows are computed for each geometrical configuration. One application of this work is as a model of saline water being returned to the ocean after desalination. References Craya, A. ''Theoretical research on the flow of nonhomogeneous fluids''. La Houille Blanche, (1):22–55, 1949. doi:10.1051/lhb/1949017 Dun, C. R. and Hocking, G. C. ''Withdrawal of fluid through
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