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.
The presence of alkaloids in Crassula ovata is a topic that is still unexplored, as there are no published studies on the matter. This study demonstrates the presence of an alkaloid compound (and its class) for the first time in Crassula ovata. The plant material was defatted with n-hexane, and a Soxhlet apparatus was used for the extraction process, while the acid-base method was used for the isolation of alkaloids from the chloroform fractions. The quaternary alkaloid was precipitated from the aqueous layer spontaneously, in high quantity. By using standard spectroscopic methods (including liquid chromatography - mass spectroscopy) we were able to clarify the structure of the precipi¬tated compound as a tetrahydroprotoberberine a
... Show MoreTo investigate the effects of losartan and enalapril on serum uric acid in hypertensive patients with metabolic syndrome, one hundred and twenty six newly diagnosed mild hypertensive patients, having markers of metabolic syndrome included in the study. The patients were divided into two groups. Group 1 (60 patients) was given losartan (50 mg/ day) and group 2 (66 patients) enalapril (20 mg/ day) for a duration of 2 months. A control group of seventy apparently healthy individuals were included. Metabolic syndrome was diagnosed according to diagnostic criteria of metabolic syndrome related to the American National Cholesterol Education Program-Adult Treatment Panel III. Serum uric acid levels were measured bef
... Show MorePlantation of humic acid nanoparticles on the inert sand through simple impregnation to obtain the permeable reactive barrier (PRB) for treating of groundwater contaminated with copper and cadmium ions. The humic acid was extracted from sewage sludge which is byproduct of the wastewater treatment plant; so, this considers an application of sustainable development. Batch tests signified that the coated sand by humic acid (CSHA) had removal efficiencies exceeded 98 % at contact time, sorbent dosage, and initial pH of 1 h, 0.25 g/50 mL and 7, respectively for 10 mg/L initial concentration and 200 rpm agitation speed. Results proved that physicosorption was the predominant mechanism for metals-CSHA interaction because the sorption data followed
... Show MoreCytokines are A type of protein that is made by certain immune and non-immune cells and has an effect on the immune system. Some cytokines stimulate the immune system and others slow it down. Interleukins (ILs) can be divided into several families with more than 40 subfamily members. They can interact with a variety of cells that alter the immune system and act on a wide range of cancers. In the past several years, ILs have attracted substantial attention because of their distinct roles in CRC that provide a new and promising strategy for CRC. In general, ILs facilitate CRC by promoting tumorigenesis, tumour growth, angiogenesis, and cancer cell invasion and metastasis and inhibit CRC via complex pathways. The Bioassay Technology Human Inte
... Show MoreEvaluating the part of historical center in Baghdad City
The traffic congestion caused by the increase in the number of vehicles in the cities as a result of the increase in the population and the density of construction requires the provision of appropriate infrastructure and the provision of transport systems and logistics services that meet the needs of the population to meet the many challenges now and in the future by introducing various modes of transport , In accordance with integrated plans such as the use of (pedestrian friendly environments, bicycles and their own paths, light rail, metro, express bus, as well as public transport buses and others), through the development of Projects High-level roads, such as the annual and major roads, etc., and integrated with the urban planning of
... Show MoreOne hundred isolates of Pseudomonas aeruginosa were obtained from patients admitted to Baghdad hospitals, Iraq during the period between May 2018 until July 2018. These isolates were distributed as 15 isolates from blood, 25 isolates from urinary tract infections, 10 isolates from sputum, 12 isolates from wounds, 15 isolates from ear infections, 15 isolates from bronchial wash of patients suffering from respiratory tract infections in addition to 8 isolates from cystic fibrosis patients. The isolates were initially identified by culturing on MacConkey agar, blood agar and P. aeruginosa agar then diagnosed by performing some morphological and biochemical tests. The second diagnosis was done by API 20E system followed by Vitek 2 compact syste
... Show MoreIndole acetic acid (IAA) produced from F. oxysporum (F2) was purified by several steps included extraction by cold ethyl acetate ; Column chromatography using silica gel and TLC chromatography . The pure indole acetic acid (IAA) which produce by F. oxysporum (IAA) was tested by ultraviolet spectra at (200-300)nm ; and appear that the maximum absorbance at 229nm , the high performance liquid chromatography (HPLC) used to test the purity of the indole acetic acid and the results showed one peak at appearance time 3.822 min
Objectives: The study aims to evaluate the effectiveness of the educational program on nurses’ knowledge towards nursing management for patients undergoing percutaneous coronary intervention (PCI), as well as to find out the relationship between nurses' knowledge and some of their demographic characteristics (age, gender, level of education, and years of experience in cardiac units).
Methodology: A Quasi-experimental as one group (pre and post test) study was conducted at the Heart Center in Al-Diwaniyah city for the period from December 7, 2019 to February 23, 2020. A sample of (40) nurses working in the heart center was chosen from different nursing addresses. The sample covered one gro
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