Investigation of CEBPA and CEBPA-AS Genes Expression in Acute Myeloid Leukemia.

BACKGROUND: The pathogenicity of acute myeloid leukemia (AML) is highly influenced by genetic alterations, such as chromosomal abnormalities. Additionally, aberrations in the mechanisms involved in gene expression have been identified to have a role in the development of AML. Contradictory evidence has been reported concerning the expression of the CEBPA gene in AML patients. Additionally, investigation into the expression of the CEBPA-AS gene has yet to be explored in AML patients. The aim of the present study was to investigate the relationship between the expression of the CEBPA and CEBPA-AS genes and AML in Iranian patients. METHODS: Using quantitative real-time PCR, the expression of the CEBPA and CEBPA-AS genes was examined in the peripheral blood samples of 58 patients with de novo adult AML, and in 20 healthy controls. RESULTS: Overall, CEBPA expression analysis showed a significant up-regulation in AML patients compared with healthy controls. Interestingly, a significant up-regulation of CEBPA was detected in the male AML patients. Significant CEBPA over-expression was observed in M0 (p-value=0.0001), M3 (p-value= 0.012) and M4 (p-value= 0.000) FAB subtypes. Our data has also demonstrated that CEBPA expression is up-regulated in favorable (p-value= 0.006) and adverse (p-value= 0.042) cytogenetic risk groups. In addition, the expression of CEBPA was significantly increased in AML patients with an abnormal karyotype. Ectopic expression of CEBPA-AS was detected in seven of the AML patients. CONCLUSION: Our study provides evidence for the up-regulation of CEBPA and the ectopic expression of CEBPA-AS in AML patients, suggesting that these two genes may play an important role in the pathogenesis of AML. The role of CEBPA and CEBPA-AS in AML patients should be further explored. This will offer potential opportunities for the development of novel treatment strategies.

Genetics of intellectual disability in consanguineous families.

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

Relationship Between Posttraumatic Stress Disorder and Compassion Satisfaction, Compassion Fatigue, and Burnout in Iranian Psychiatric Nurses.

Research is limited regarding post-traumatic stress disorder (PTSD) and professional quality of life (ProQOL) in Iranian nurses, especially nurses working in psychiatric units. The current study was conducted to determine the relationship between PTSD and ProQOL among psychiatric nurses in Kerman, Iran. This cross-sectional correlational study comprised 160 nurses working in three clinical settings supervised by Kerman University of Medical Sciences. Data were gathered using two questionnaires: PTSD Checklist and ProQOL Scale. Mean total PTSD score was 35.18 (SD = 10.92, range = 17 to 85), indicating nurses experienced moderate PTSD. Among ProQOL domains, burnout had the highest mean score and compassion fatigue had the lowest mean score. According to the Pearson correlation coefficient, PTSD score had a relationship with compassion satisfaction (r = -0.29; p < 0.001), compassion fatigue (r = 0.61; p < 0.001), and burnout (r = 0.36; p = 0.001). The current study results suggest that examining work-related PTSD, burnout, compassion satisfaction, and compassion fatigue in mental health nurses can help identify strategies to improve working conditions and quality of nursing care. [Journal of Psychosocial Nursing and Mental Health Services, 57(3), 39-47.].

CCFS: A cooperating coevolution technique for large scale feature selection on microarray datasets.

Recently, advances in bioinformatics lead to microarray high dimensional datasets. These kinds of datasets are still challenging for researchers in the area of machine learning since they suffer from small sample size and extremely large number of features. Therefore, feature selection is the problem of interest in the learning process in this area. In this paper, a novel feature selection method based on a global search (by using the main concepts of divide and conquer technique) which is called CCFS, is proposed. The proposed CCFS algorithm divides vertically (on features) the dataset by random manner and utilizes the fundamental concepts of cooperation coevolution by using a filter criterion in the fitness function in order to search the solution space via binary gravitational search algorithm. For determining the effectiveness of the proposed method some experiments are carried out on seven binary microarray high dimensional datasets. The obtained results are compared with nine state-of-the-art feature selection algorithms including Interact (INT), and Maximum Relevancy Minimum Redundancy (MRMR). The average outcomes of the results are analyzed by a statistical non-parametric test and it reveals that the proposed method has a meaningful difference to the others in terms of accuracy, sensitivity, specificity and number of selected features.

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.

OBJECTIVE: Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with decreased head circumference due to the abnormality in fetal brain growth. To date, nine loci and nine genes responsible for the situation have been identified. Mutations in the ASPM gene (MCPH5) is the most common cause of MCPH. The ASPM gene with 28 exons is essential for normal mitotic spindle function in embryonic neuroblasts. MATERIALS & METHODS: We have ascertained twenty-two consanguineous families with intellectual disability and different ethnic backgrounds from Iran. Ten out of twenty-two families showed primary microcephaly in clinical examination. We investigated MCPH5 locus using homozygosity mapping by microsatellite marker. RESULT: Sequence analysis of exon 8 revealed a deletion of nucleotide (T) in donor site of splicing site of ASPM in one family. The remaining nine families were not linked to any of the known loci .More investigation will be needed to detect the causative defect in these families. CONCLUSION: [corrected] We detected a novel mutation in the donor splicing site of exon 8 of the ASPM gene. This deletion mutation can alter the ASPM transcript leading to functional impairment of the gene product.

Contamination of metals in tissues of Ctenopharyngodon idella and Perca fluviatilis, from Anzali Wetland, Iran.

The objective of the present study was to investigate the levels of metals (Cd, Cu, Zn, Pb and Cr) in muscle, gill, liver, kidney and intestine of two freshwater fish, Ctenopharyngodon idella and Perca fluviatilis, in Anzali Wetland, Iran. The concentrations were different between the fish species as well as among the tissues of fish. Results showed that the metal concentrations in both fish species were in descending order of Zn > Cu > Pb > Cr > Cd. Results also showed that the Cd, Cu, Zn, and Pb concentrations in the muscle of both fish from Anzali Wetland are below levels of concern for human consumption.

Acute toxicity bioassay of mercury and silver on Capoeta fusca (black fish).

Since toxicity is based on the effect that a toxicant produces at a target site within an organism, establishing the relationship between the concentration of substance at the target site and the subsequent toxic effect can provide a tool for predicting toxicity. The behavior of a single toxicant could not be fully understood without the knowledge of the fact the physical and biochemical properties of substances that can change. To understand this, the acute toxicity of mercury (as HgSO4) and silver (as AgSO4) to Capoeta fusca (6 treatments in triplicate) was determined. During September 2009, C. fusca belonging to the family Cyprinidae, weighing 2.95 (±0.55) g, were obtained from qanats in Birjand, East of Iran. The fish were maintained in an aquarium system at a holding temperature of 21 (±0.2) and were allowed to adjust to lab conditions for 1 week before experimentation. The lethal concentration 50 (LC50) values for HgSO4 at 24, 48, 72, and 96 h of exposure were 0.32, 0.28, 0.26, and 0.24 mg L⁻¹, respectively. Also, the LC50 values for AgSO4 at 24, 48, 72, and 96 h of exposure were 0.014, 0.013, 0.013, and 0.013 mg L⁻¹, respectively. Results of this study showed that C. fusca was very sensitive to AgSO4.

Bioaccumulation and elimination of nickel in the organs of black fish (Capoeta fusca).

Since toxicity is based on the effect that a toxicant produces at a target site within an organism, establishing the relationship between the concentration of substance at the target site and the subsequent toxic effect can provide a tool for predicting toxicity. This article aims to investigate the patterns of bioaccumulation and elimination of nickel in the selected organs of black fish (Capoeta fusca) exposed to two treatments of nickel (4.5 and 12.7 mg/L) for a period of 30 days. Nickel was assayed using Shimadzu AA 680 atomic absorption spectrophotometer, and the results were given as µg/g wet weight. This finding showed that the accumulation patterns of nickel, for lower sub-lethal (LSL) and higher sub-lethal (HSL) concentrations of nickel, are in the following order: gill > liver > muscle > skin. The elimination patterns of nickel are in the following order: gill > skin > muscle > liver, for LSL concentration, and gill > skin > liver > muscle, for HSL concentration of nickel. The results show that the target organ for accumulation and elimination of nickel is gill.

Bioaccumulation of heavy metals in freshwater fish species, Anzali, Iran.

The main objectives of study were to monitor the metals concentrations, in freshwater fish species, Carassius gibelio and Esox lucius; and to identify any relationships between species and bioaccumulation of metals. The highest concentration of metals (cadmium, 1.96; copper, 24.2; zinc, 49.6; lead, 5.4; chromium, 4.4) between the fish species and tissues was in the liver of Esox lucius, while the lowest (cadmium,0.21; copper,7.2; zinc,19.4; lead,0.9; chromium,0.6 µg/g) found in the muscle of Carassius gibelio. Results showed that the metal concentrations were in fishes in descending order of zinc > copper > lead > chromium > cadmium, similarly in the tissue liver > kidney > gill ~ intestine > muscle.

Effect of water hardness on the toxicity of cobalt and nickel to a freshwater fish, Capoeta fusca.

OBJECTIVE: To determine the effects of water hardness on the toxicities of cobalt (Co) and nickel (Ni) to a freshwater fish, Capoeta fusca. METHODS: Toxicity was investigated by static bioassay. Fish were exposed to cobalt (as CoCl(2)) and nickel (as NiCl(2)) for 96 h in waters with two levels of hardness ("hard" and "very hard", nominally 130 mg/L and 350 mg/L as CaCO(3), respectively). RESULTS: Water hardness had a significant effect on the acute toxicity of both elements. The 96 h LC(50) values for Co were 91.7 mg/L and 204.8 mg/L in hard and very hard waters, respectively, and for Ni the 96 h LC(50) values were 78.0 mg/L and 127.2 mg/L, respectively. CONCLUSION: The fish were more sensitive to Co and Ni toxicity in hard water than in very hard water; very hard water protects C. fusca against the toxicity of Co and Ni.

Influence of water hardness on acute toxicity of copper and zinc on fish.

The aim of this study was to utilize static test for examining the acute toxicity of two essential elements, Cu and Zn, to a native fish, Capoeta fusca, by static bioassay. The acute toxicity of two heavy metals to C. fusca was determined in the soft, hard and very hard water (40, 150 and 380 mg/L as CaCO(3)). Results showed that toxicity of Cu and Zn decreased with increasing water hardness, so that water hardness had a significant effect on Cu and Zn toxicity on fish. Copper and Zn were more toxic in the soft water than in the hard water. The 96-hour lethal concentration for 50% (LC(50)) values for C. fusca were lower in the soft water compared with the hard and very hard water. The 96-hour LC(50) for Cu at the soft, hard and very hard water was found to be 1.1, 5.4 and 7.5 mg/L, respectively, while the 96-hour LC(50) for Zn at the soft, hard and very hard water was found to be 13.7, 74.4 and 102.9 mg/L, respectively.

Seasonal variation of cadmium, copper, and lead concentrations in fish from a freshwater lake.

This paper aims to compare the Cd, Cu, and Pb concentration in the bone, gills, and muscle of the seven fish species sampled during normal and dry seasons. Cadmium, Cu, and Pb concentrations varied significantly depending on the type of the tissue and season. Bone samples of the Osteochilus hasseltii showed the highest concentrations of Pb (6.08 µg/g dw) during September (the dry season), whereas bone samples of the Puntioplites bulu showed the lowest concentrations of Cd (0.08 µg/g dw) during September. Muscle samples of the P. bulu indicated the highest concentrations of Cu (2.58 µg/g dw) during March (the normal season). On the other hand, muscle samples of Channa straitus sowed the lowest concentrations of Cd (0.04 µg/g dw) during July (the dry season). Gills samples of the O. hasseltii showed the highest concentration of Pb (6.56 µg/g dw) during March (the normal season), while gills samples of C. straitus indicated the lowest concentration of Cd (0.06 µg/g dw) during July (the dry season).

Heavy metal concentrations in water and sediments in Tasik Chini, a freshwater lake, Malaysia.

The purpose of this paper are to determine the concentration of heavy metals namely cadmium (Cd), copper (Cu) and lead (Pb) in water and sediment; and to investigate the effect of sediment pH and sediment organic matter on concentration of cadmium, copper and lead in sediment at oxidation fraction. For this purpose the concentration of heavy metals were measured in water and sediments at 15 sites from Tasik Chini, Peninsular Malaysia. The sequential extraction procedure used in this study was based on defined fractions: exchangeable, acid reduction, oxidation, and residual. The concentration of heavy metals in residual fraction was higher than the other fractions. Among the non-residual fractions, the concentration of heavy metals in organic matter fraction was much higher than other fractions collected from all sampling sites. The pH of the sediment in all sites was acidic. The mean pH ranges from 4.8 to 5.5 with the higher value observed at site 15. Results of organic matter analysis showed that the percentage of organic matter present in sediment samples varies throughout the lake and all sites of sediments were relatively rich in organic matter ranging from 13.0% to 34.2%. The highest mean percentage of organic matter was measured at sampling site 15, with value of 31.78%.