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Sample records for family g6pd analysis

  1. Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.

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    Tanphaichitr, Voravarn S; Hirono, Akira; Pung-amritt, Parichat; Treesucon, Ajjima; Wanachiwanawin, Wanchai

    2011-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymopathies worldwide. Mostly G6PD deficient cases are asymptomatic though they may have the risk of neonatal jaundice (NNJ) and acute intravascular hemolysis during oxidative stress. Chronic nonspherocytic hemolytic anemia (CNSHA) due to G6PD deficiency is rare. In Thailand, one case was reported 40 years ago and by biochemical study this G6PD was reported to be a new variant G6PD Bangkok. We, herein, report two families with CNSHA due to G6PD deficiency. In the first family, we have been following up the clinical course of the patient with G6PD Bangkok. In addition to chronic hemolysis, he had three acute hemolytic episodes requiring blood transfusions during childhood period. Multiple gallstones were detected at the age of 27. His two daughters who inherited G6PD Bangkok from him and G6PD Vanua Lava from his wife are asymptomatic. Both of them had NNJ and persistent evidences of compensated hemolysis. Molecular analysis revealed a novel missense mutation 825 G→C predicting 275 Lys→Asn causing G6PD Bangkok. In the second family, two male siblings are affected. They had NNJ and several hemolytic episodes which required blood transfusions. On follow-up they have been diagnosed with chronic hemolysis as evidenced by reticulocytosis and indirect hyperbilirubinemia. Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 G→T predicting 459 Arg→Leu (known as G6PD Canton) and the second one was 1502 T→G predicting 501 Phe→Cys. We designated the resulting novel G6PD variant, G6PD Bangkok Noi.

  2. Fatal Chromobacterium violaceum septicaemia in northern Laos, a modified oxidase test and post-mortem forensic family G6PD analysis

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    Mayxay Mayfong

    2009-07-01

    Full Text Available Abstract Background Chromobacterium violaceum is a Gram negative facultative anaerobic bacillus, found in soil and stagnant water, that usually has a violet pigmented appearance on agar culture. It is rarely described as a human pathogen, mostly from tropical and subtropical areas. Case presentation A 53 year-old farmer died with Chromobacterium violaceum septicemia in Laos. A modified oxidase method was used to demonstrate that this violacious organism was oxidase positive. Forensic analysis of the glucose-6-phosphate dehydrogenase genotypes of his family suggest that the deceased patient did not have this possible predisposing condition. Conclusion C. violaceum infection should be included in the differential diagnosis in patients presenting with community-acquired septicaemia in tropical and subtropical areas. The apparently neglected but simple modified oxidase test may be useful in the oxidase assessment of other violet-pigmented organisms or of those growing on violet coloured agar.

  3. Functional and Biochemical Analysis of Glucose-6-Phosphate Dehydrogenase (G6PD Variants: Elucidating the Molecular Basis of G6PD Deficiency

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    Saúl Gómez-Manzo

    2017-05-01

    Full Text Available G6PD deficiency is the most common enzymopathy, leading to alterations in the first step of the pentose phosphate pathway, which interferes with the protection of the erythrocyte against oxidative stress and causes a wide range of clinical symptoms of which hemolysis is one of the most severe. The G6PD deficiency causes several abnormalities that range from asymptomatic individuals to more severe manifestations that can lead to death. Nowadays, only 9.2% of all recognized variants have been related to clinical manifestations. It is important to understand the molecular basis of G6PD deficiency to understand how gene mutations can impact structure, stability, and enzymatic function. In this work, we reviewed and compared the functional and structural data generated through the characterization of 20 G6PD variants using different approaches. These studies showed that severe clinical manifestations of G6PD deficiency were related to mutations that affected the catalytic and structural nicotinamide adenine dinucleotide phosphate (NADPH binding sites, and suggests that the misfolding or instability of the 3D structure of the protein could compromise the half-life of the protein in the erythrocyte and its activity.

  4. Rapid diagnostic test for G6PD deficiency in Plasmodium vivax-infected men: a budget impact analysis based in Brazilian Amazon.

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    Peixoto, Henry Maia; Brito, Marcelo Augusto Mota; Romero, Gustavo Adolfo Sierra; Monteiro, Wuelton Marcelo; de Lacerda, Marcus Vinícius Guimarães; de Oliveira, Maria Regina Fernandes

    2017-01-01

    The aim of this study was to estimate the incremental budget impact (IBI) of a rapid diagnostic test to detect G6PDd in male patients infected with Plasmodium vivax in the Brazilian Amazon, as compared with the routine protocol recommended in Brazil which does not include G6PDd testing. The budget impact analysis was performed from the perspective of the Brazilian health system, in the Brazilian Amazon for the years 2013, 2014 and 2015. The analysis used a decision model to compare two scenarios: the first consisting of the routine recommended in Brazil which does not include prior diagnosis of dG6PD, and the second based on the use of RDT CareStart™ G6PD (CS-G6PD) in all male subjects diagnosed with vivax malaria. The expected implementation of the diagnostic test was 30% in the first year, 70% the second year and 100% in the third year. The analysis identified negative IBIs which were progressively smaller in the 3 years evaluated. The sensitivity analysis showed that the uncertainties associated with the analytical model did not significantly affect the results. A strategy based on the use of CS-G6PD would result in better use of public resources in the Brazilian Amazon. © 2016 John Wiley & Sons Ltd.

  5. Using G6PD tests to enable the safe treatment of Plasmodium vivax infections with primaquine on the Thailand-Myanmar border: A cost-effectiveness analysis.

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    Angela Devine

    2017-05-01

    Full Text Available Primaquine is the only licensed antimalarial for the radical cure of Plasmodium vivax infections. Many countries, however, do not administer primaquine due to fear of hemolysis in those with glucose-6-phosphate dehydrogenase (G6PD deficiency. In other settings, primaquine is given without G6PD testing, putting patients at risk of hemolysis. New rapid diagnostic tests (RDTs offer the opportunity to screen for G6PD deficiency prior to treatment with primaquine. Here we assessed the cost-effectiveness of using G6PD RDTs on the Thailand-Myanmar border and provide the model as an online tool for use in other settings.Decision tree models for the management of P. vivax malaria evaluated the costs and disability-adjusted life-years (DALYs associated with recurrences and primaquine-induced hemolysis from a health care provider perspective. Screening with G6PD RDTs before primaquine use was compared to (1 giving chloroquine alone and (2 giving primaquine without screening. Data were taken from a recent study on the impact of primaquine on P. vivax recurrences and a literature review. Compared to the use of chloroquine alone, the screening strategy had similar costs while averting 0.026 and 0.024 DALYs per primary infection in males and females respectively. Compared to primaquine administered without screening, the screening strategy provided modest cost savings while averting 0.011 and 0.004 DALYs in males and females respectively. The probabilistic sensitivity analyses resulted in a greater than 75% certainty that the screening strategy was cost-effective at a willingness to pay threshold of US$500, which is well below the common benchmark of per capita gross domestic product for Myanmar.In this setting G6PD RDTs could avert DALYs by reducing recurrences and reducing hemolytic risk in G6PD deficient patients at low costs or cost savings. The model results are limited by the paucity of data available in the literature for some parameter values

  6. Using G6PD tests to enable the safe treatment of Plasmodium vivax infections with primaquine on the Thailand-Myanmar border: A cost-effectiveness analysis.

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    Devine, Angela; Parmiter, Minnie; Chu, Cindy S; Bancone, Germana; Nosten, François; Price, Ric N; Lubell, Yoel; Yeung, Shunmay

    2017-05-01

    Primaquine is the only licensed antimalarial for the radical cure of Plasmodium vivax infections. Many countries, however, do not administer primaquine due to fear of hemolysis in those with glucose-6-phosphate dehydrogenase (G6PD) deficiency. In other settings, primaquine is given without G6PD testing, putting patients at risk of hemolysis. New rapid diagnostic tests (RDTs) offer the opportunity to screen for G6PD deficiency prior to treatment with primaquine. Here we assessed the cost-effectiveness of using G6PD RDTs on the Thailand-Myanmar border and provide the model as an online tool for use in other settings. Decision tree models for the management of P. vivax malaria evaluated the costs and disability-adjusted life-years (DALYs) associated with recurrences and primaquine-induced hemolysis from a health care provider perspective. Screening with G6PD RDTs before primaquine use was compared to (1) giving chloroquine alone and (2) giving primaquine without screening. Data were taken from a recent study on the impact of primaquine on P. vivax recurrences and a literature review. Compared to the use of chloroquine alone, the screening strategy had similar costs while averting 0.026 and 0.024 DALYs per primary infection in males and females respectively. Compared to primaquine administered without screening, the screening strategy provided modest cost savings while averting 0.011 and 0.004 DALYs in males and females respectively. The probabilistic sensitivity analyses resulted in a greater than 75% certainty that the screening strategy was cost-effective at a willingness to pay threshold of US$500, which is well below the common benchmark of per capita gross domestic product for Myanmar. In this setting G6PD RDTs could avert DALYs by reducing recurrences and reducing hemolytic risk in G6PD deficient patients at low costs or cost savings. The model results are limited by the paucity of data available in the literature for some parameter values, including the

  7. On the relation between malaria and G-6-PD deficiency

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    Bottini, E.; Gloria-Bottini, F.; Maggioni, G.

    1978-01-01

    On the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a recent paper suggest that the haemolytic event in a malarial environment is a favourable selective factor. Therefore, the fitness of the G-6-PD-deficient individual who shows haemolysis is higher than that of those who do not show haemolysis. Modiano (1976) also suggested that haemolysis may not be a negative component of the selective forces which act on the G-6-PD-deficient variants. In this paper, some facts which make these hypotheses unlikely are considered. Other, more promising, lines for the analysis of the complex relation between malaria and G-6-PD deficiency are suggested. In Sardinia and in the area of the Po Delta, even though favism is present, there is a very low correlation between the frequency of G-6-PD deficiency and past malarial morbidity. Therefore, the situation is similar to that observed in other parts of the world, in which malaria is highly endemic, but where favism is absent. The following facts seem to be in contrast with the possibility that haemolysis could `by itself' be a favourable event: (1) In the hemizygous male, haemolysis due to favism is generally severe and there is a high mortality rate; (2) In the heterozygous female, the erythrocytes with G-6-PD deficiency seem to show a low parasite rate compared to normal cells, and it is just these erythrocytes that are destroyed during the haemolytic crisis; (3) In malarial environments, enzymopenic variants associated with continuous haemolysis have not been selected. A positive selection of such variants would be expected if haemolysis was `by itself' a positive factor. Several observations suggest that the G-6-PD system interacts with various factors, both genetical (thalassaemia, erythrocyte acid phosphatase, adenosine deaminase) and environmental (Vicia Faba, altitude, viral and protozoal

  8. Present status of understanding on the G6PD deficiency and natural selection

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    Tripathy V

    2007-01-01

    Full Text Available G6PD deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. Individuals are generally asymptomatic and hemolytic anemia occurs when some anti-malarial drugs or other oxidizing chemicals are administered. It has been proposed that G6PD deficiency provides protection against malaria. Maintaining of G6PD deficient alleles at polymorphic proportions is complicated because of the X-linked nature of G6PD deficiency. A comprehensive review of the literature on the hypothesis of malarial protection and the nature of the selection is being presented. Most of the epidemiological, in vitro and in vivo studies report selection for G6PD deficiency. Analysis of the G6PD gene also reveals that G6PD-deficient alleles show some signatures of selection. However, the question of how this polymorphism is being maintained remains unresolved because the selection/fitness coefficients for the different genotypes in the two sexes have not been established. Prevalence of G6PD deficiency in Indian caste and tribal populations and the different variants reported has also been reviewed.

  9. A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo and polymorphic G6PD variants in São Paulo State, Brazil

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    Raimundo Antonio G. Oliveira

    2009-01-01

    Full Text Available In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient. G6PD gene mutations were investigated in these G6PD-deficient individuals by using PCR-RFLP, PCR-SSCP analysis and DNA sequencing. Twelve G6PD A-202A/376G and two G6PD Seattle844C, as well as a new variant identified as G6PD São Paulo, were detected among adults, and 11 G6PD A-202A/376G and one G6PD Seattle844C were found among children. The novel mutation c.660C > G caused the replacement of isoleucine by methionine (I220M in a region near the dimer interface of the molecule. The conservative nature of this mutation (substitution of a nonpolar aliphatic amino acid for another one could explain why there was no corresponding change in the loss of G6PD activity (64.5% of normal activity in both cases.

  10. Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia

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    Mueller, Ivo; MalariaGEN Consortium

    2017-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plasmodium falciparum malaria, but the precise nature of the protective effect has proved difficult to define as G6PD deficiency has multiple allelic variants with different effects in males and females, and it has heterogeneous effects on the clinical outcome of P. falciparum infection. Here we report an analysis of multiple allelic forms of G6PD deficiency in a large multi-centre case-control study ...

  11. Analysis of thalassemia and G6PD activity in people of childbearing age%广州市育龄人群地中海贫血和G6PD活性检测结果分析

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    刘丽红; 屈艳霞; 余建群; 陈桂兰

    2015-01-01

    目的:了解广州市育龄人群地中海贫血(地贫)和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的检出率、地贫患者的G6PD活性、地贫与G6PD活性检测的相互影响。方法抽取21628例受检者的静脉血,采用平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)进行地贫初筛,对初筛阳性者进行基因检测;采用酶速率法检测G6PD活性。结果①地贫的检出率为9.94%(2149/21628);② G6PD缺乏症的检出率为7.96%(1721/21628),男、女性别比例为1.96:1;③地贫组(除α-地贫2组)与非地贫组比较,G6PD活性均有不同程度的升高;各种类型地贫组之间G6PD活性增高水平比较,差异有统计学意义(P<0.05);④地贫基因携带合并G6PD缺乏者的MCV、M CH高于地贫基因携带G6PD正常者,差异有统计学意义(P<0.05)。结论本地区是地贫和G6PD缺乏症的高发区;G6PD活性增高的程度不同可作为不同类型地贫的辅助诊断参考指标;G6PD缺乏可影响MCV、MCH筛查地贫的敏感性。%Objective To explore the incidence of thalassemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency, the G6PD activity of patients with thalassemia, and the interaction between thalassemia and G6PD activity. Methods A total of 21 628 people were screened for thalassemia by mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). The people with positive results then underwent thalassemia gene test. The G6PD activities were detected by enzyme kinetic method. Results The incidence of thalassemia was 9.94%(2 149/21 628), and the incidence of G6PD deficiency was 7.96%(1 721/21 628), with male to female ratio of 1.96:1. Compared with non-thalassemia group, the G6PD activities of thalassemia groups all increased significantly, except theα-thalassemia group 2. The increase in G6PD activity showed statistically significant differences between the thal-assemia groups (P<0.05). The people of thalassemia gene complicated with

  12. Neonatal Hyperbilirubinemia in infants with G6PD c.563C > TVariant

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    Moiz Bushra

    2012-08-01

    Full Text Available Abstract Background There is a strong correlation between glucose-6-phosphate dehydrogenase (G6PD deficiency and neonatal hyperbilirubinemia with a rare but potential threat of devastating acute bilirubin encephalopathy. G6PD deficiency was observed in 4–14% of hospitalized icteric neonates in Pakistan. G6PD c.563C > T is the most frequently reported variant in this population. The present study was aimed at evaluating the time to onset of hyperbilirubinemia and the postnatal bilirubin trajectory in infants having G6PD c.563C > T. Methods This was a case–control study conducted at The Aga Khan University, Pakistan during the year 2008. We studied 216 icteric male neonates who were re-admitted for phototherapy during the study period. No selection was exercised. Medical records showed that 32 were G6PD deficient while 184 were G6PD normal. Each infant was studied for birth weight, gestational age, age at the time of presentation, presence of cephalhematoma, sepsis and neurological signs, peak bilirubin level, age at peak bilirubin level, days of hospitalization, whether phototherapy or exchange blood transfusion was initiated, and the outcome. During hospital stay, each baby was tested for complete blood count, reticulocyte count, ABO and Rh blood type, direct antiglobulin test and quantitative G6PD estimation [by kinetic determination of G6PDH]. G6PDgenotype was analyzed in 32 deficient infants through PCR-RFLP analysis and gene sequencing. Results G6PD variants c.563C > T and c.131 C > G were observed in 21 (65% and three (9% of the 32 G6PD deficient infants, respectively. DNA of eight (25% newborns remained uncharacterized. In contrast to G6PD normal neonates, infants with c.563C > T variant had significantly lower enzyme activity (mean ± 1SD; 0.3 ± 0.2 U/gHb vs. 14.0 ± 4.5 U/gHb, p p = 0.008 which peaked earlier after birth (mean ± 1SD 2.9 ± 1.6 vs. 4.3 ± 2.3 days, p = 0.007. No statistically significant

  13. Glucose-6-phosphate dehydrogenase (G6PD-deficient epithelial cells are less tolerant to infection by Staphylococcus aureus.

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    Yi-Ting Hsieh

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a key enzyme in the pentose phosphate pathway and provides reducing energy to all cells by maintaining redox balance. The most common clinical manifestations in patients with G6PD deficiency are neonatal jaundice and acute hemolytic anemia. The effects of microbial infection in patients with G6PD deficiency primarily relate to the hemolytic anemia caused by Plasmodium or viral infections and the subsequent medication that is required. We are interested in studying the impact of bacterial infection in G6PD-deficient cells. G6PD knock down A549 lung carcinoma cells, together with the common pathogen Staphylococcus aureus, were employed in our cell infection model. Here, we demonstrate that a lower cell viability was observed among G6PD-deficient cells when compared to scramble controls upon bacterial infection using the MTT assay. A significant increase in the intracellular ROS was detected among S. aureus-infected G6PD-deficient cells by observing dichlorofluorescein (DCF intensity within cells under a fluorescence microscope and quantifying this signal using flow cytometry. The impairment of ROS removal is predicted to enhance apoptotic activity in G6PD-deficient cells, and this enhanced apoptosis was observed by annexin V/PI staining under a confocal fluorescence microscope and quantified by flow cytometry. A higher expression level of the intrinsic apoptotic initiator caspase-9, as well as the downstream effector caspase-3, was detected by Western blotting analysis of G6PD-deficient cells following bacterial infection. In conclusion, we propose that bacterial infection, perhaps the secreted S. aureus α-hemolysin in this case, promotes the accumulation of intracellular ROS in G6PD-deficient cells. This would trigger a stronger apoptotic activity through the intrinsic pathway thereby reducing cell viability when compared to wild type cells.

  14. DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANTS

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    许卫明; 王菁; 华小云; 杜传书

    1994-01-01

    In the past few years,a total of 6 different mutations of the G6PD gene have been reported in china.One of these,the C6 mutation(A95→G),accounted for about 15.4% of the Chinese G6PD variants.In ordet to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene,we applied the single-strand confor-mation polymorphism(SSCP)technique to the detection of mutations in exon 2 of this gene.We observed four pa-tients with abnormal migration patterns of the exon 2 band among 20 cases of G6PD variants.Direct PCR se-quencing confirmed a Tto C substitution in exon 2 that has previously been reported.This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.

  15. A Patient with G6PD Deficiency and Falciparum Malaria

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    Y Fagani

    2007-04-01

    Full Text Available A 20 year old male patient from Afghanistan with a history of G6PD deficiency and clinical manifestations of malaria referred to Bou-Ali Hospital in Tehran, capital of Iran. Giemsa stained thick blood films revealed an infection of Plasmodium falciparum with 33700 parasite/μL of blood. The patient was successfully treated according to malaria treatment guideline.

  16. Clinical analysis of 5 cases of sickle cell disease combinded G6PD deficiency.%镰状细胞病合并G6PD缺陷症五例临床分析

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    谢庆芳; 李菊香; 苏运钦; 尹更生; 谭润平

    2010-01-01

    目的 总结5例血红蛋白S病(HbS)各类实验数据,为临床提供实验诊断,预防新生儿的严重并发症.方法 血常规检测,全自动血红蛋白电泳,G6PD/6PGD直接比值法,G6PD/6PGD全自动生化仪日立7600检测G6PD缺陷症.结果 检测5例HbS患者,发现合并a地贫1例,4例合并G6PD缺陷症.结论 Hb电泳区带定量是诊断HbS的重要方法.镰变试验是鉴别HbS与HbD的确诊试验.G6PD缺陷症在非洲裔HbS患者中有较高的发生率,如果同时合并2种遗传病会加重贫血症状.

  17. 宝鸡地区192469例新生儿G6PD筛查结果分析%Analysis of 192 469 Cases of Neonatal G6PD Screening Results

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    张娟玲; 唐凯; 刘郁明; 成艳; 屈萍; 王文娟; 杜小云; 权秋宁

    2016-01-01

    目的 探讨本地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况以采取措施预防因G6PD缺乏而引起的一系列疾病的发生,保护新生儿的健康成长.方法 采取新生儿出生后72h滤纸干血样应用时间分辨(DELFIA)荧光法检测G6PD含量.结果 192469例新生儿中G6PD缺乏症筛查试验阳性者48例,全市新生儿G6PD缺乏症发病率为2.49/万.其中陕西省籍贯为18例(检出率37.5%),外省籍贯为30例(检出率为62.5%),x2=6.00,0.01<P<0.05.其中患儿母亲为广西籍贯者15例(占50%);贵州籍贯3例(占10%);广东籍贯6例(占20%);甘肃、河南、浙江、福建、海南、四川籍贯各1例(各占3.33%).结论 本地区新生儿G6PD缺乏症发病率低于南方地区,但G6PD缺乏症高发区人口流入可增加本地区的发生率,因此应对G6PD高发区流入人群给予充分关注,对患儿进行早期干预并对家长进行健康教育,避免因核黄疸而引起患儿死亡和智能发育障碍.%Objective:To prevent the occurrence of a series of diseases induced by G6PD deficiency and to guarantee healthy growth of newborn,the incidence of local neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency was discussed in this paper.Methods:Time-resolved (DELFIA) fluorescence was applied to detect the concentration of G6PD in filter paper dried blood samples of 72h after birth.Results:48 cases of G6PD deficiency positive infants were detected during 192 469 cases of newborn,and the morbidity of G6PD deficiency in the whole city was 2.49/10000.There were 18 cases in the province of Shaanxi (detectable rate was 37.5%),and 30 cases were in other provinces (detectable rate was 62.5%),x2=6.00,0.01<P<0.05.15 cases of the infants'mothers came from Guangxi province (accounted for 50%),3 cases from Guizhou province (accounted for 10%),6 cases from Guangdong Province (accounted for 20%),and 1 case respectively from Gansu,Henan,Zhejiang,Fujian,Hainan and

  18. Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia

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    Clarke, Geraldine M; Rockett, Kirk; Kivinen, Katja; Hubbart, Christina; Jeffreys, Anna E; Rowlands, Kate; Jallow, Muminatou; Conway, David J; Bojang, Kalifa A; Pinder, Margaret; Usen, Stanley; Sisay-Joof, Fatoumatta; Sirugo, Giorgio; Toure, Ousmane; Thera, Mahamadou A; Konate, Salimata; Sissoko, Sibiry; Niangaly, Amadou; Poudiougou, Belco; Mangano, Valentina D; Bougouma, Edith C; Sirima, Sodiomon B; Modiano, David; Amenga-Etego, Lucas N; Ghansah, Anita; Koram, Kwadwo A; Wilson, Michael D; Enimil, Anthony; Evans, Jennifer; Amodu, Olukemi K; Olaniyan, Subulade; Apinjoh, Tobias; Mugri, Regina; Ndi, Andre; Ndila, Carolyne M; Uyoga, Sophie; Macharia, Alexander; Peshu, Norbert; Williams, Thomas N; Manjurano, Alphaxard; Sepúlveda, Nuno; Clark, Taane G; Riley, Eleanor; Drakeley, Chris; Reyburn, Hugh; Nyirongo, Vysaul; Kachala, David; Molyneux, Malcolm; Dunstan, Sarah J; Phu, Nguyen Hoan; Quyen, Nguyen Ngoc; Thai, Cao Quang; Hien, Tran Tinh; Manning, Laurens; Laman, Moses; Siba, Peter; Karunajeewa, Harin; Allen, Steve; Allen, Angela; Davis, Timothy ME; Michon, Pascal; Mueller, Ivo; Molloy, Síle F; Campino, Susana; Kerasidou, Angeliki; Cornelius, Victoria J; Hart, Lee; Shah, Shivang S; Band, Gavin; Spencer, Chris CA; Agbenyega, Tsiri; Achidi, Eric; Doumbo, Ogobara K; Farrar, Jeremy; Marsh, Kevin; Taylor, Terrie; Kwiatkowski, Dominic P

    2017-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plasmodium falciparum malaria, but the precise nature of the protective effect has proved difficult to define as G6PD deficiency has multiple allelic variants with different effects in males and females, and it has heterogeneous effects on the clinical outcome of P. falciparum infection. Here we report an analysis of multiple allelic forms of G6PD deficiency in a large multi-centre case-control study of severe malaria, using the WHO classification of G6PD mutations to estimate each individual’s level of enzyme activity from their genotype. Aggregated across all genotypes, we find that increasing levels of G6PD deficiency are associated with decreasing risk of cerebral malaria, but with increased risk of severe malarial anaemia. Models of balancing selection based on these findings indicate that an evolutionary trade-off between different clinical outcomes of P. falciparum infection could have been a major cause of the high levels of G6PD polymorphism seen in human populations. DOI: http://dx.doi.org/10.7554/eLife.15085.001 PMID:28067620

  19. STUDY OF GLUCOSE 6-PHOSPHATE DEHYDROGENASE (G6PD DEFICIENCY IN JAUNDICED NEONATES OF A TERTIARY CARE CENTRE OF NORTH-EAST INDIA

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    Aukifa Khamim

    2016-05-01

    Full Text Available roteins from oxidative damage. Glucose-6-Phosphate Dehydrogenase (G6PD deficiency is the commonest red cell enzyme abnormality associated with haemolysis leading to Neonatal Jaundice (NNJ. It is a genetically inherited X-linked abnormality. AIMS To find out incidence of G6PD deficiency amongst jaundiced patients and relation between G6PD deficiency and sex, peak level of Total Serum Bilirubin (TSB, significant hyperbilirubinemia, duration of phototherapy and need for exchange transfusion. SETTINGS AND DESIGN Hospital based retrospective study. METHODS AND MATERIALS This retrospective study was carried out among 1224 jaundiced neonates needing phototherapy admitted in the Neonatology Unit of Dept. of Paediatrics (March 2015 to October 2015, Assam Medical College and Hospital (AMCH, Dibrugarh, Assam. STATISTICAL ANALYSIS USED Data were entered in SPSS (Software package for statistical analysis, version 16 and analysed using Chi-Square test and Mann Whitney U test. RESULTS A total of 2574 neonates were admitted during the 8 months period, of which 1224 had NNJ (47.5%. Of these 77 (5.07% babies were G6PD deficient. Male (n=53 to female (n=24 ratio was 2:1. The commonest age at presentation was 2nd to 4th days in both G6PD deficient and G6PD normal neonates. Mean peak-TSB level in G6PD deficient cases (20.03±5.30 mg/dL was significantly higher than G6PD normal cases (16.67±3.93 mg/dL; 45% of G6PD deficient neonates developed significant hyperbilirubinemia (Indirect bilirubin more than 20 mg% and required Double Volume Exchange Transfusion (DVET. Mean duration of phototherapy in G6PD deficient NNJ babies is 2.5±1.2 days, which is significantly higher (p<0.05 when compared to G6PD normal NNJ babies where it is 2±1.1 days. In babies with significant hyperbilirubinemia, it is seen that there is signif icant difference (p<0.001 between G6PD deficient and G6PD normal babies. There was significant difference in requirement of DVET between G6PD deficient

  20. DNA damage and apoptosis in mononuclear cells from glucose-6-phosphate dehydrogenase-deficient patients (G6PD Aachen variant) after UV irradiation.

    Science.gov (United States)

    Efferth, T; Fabry, U; Osieka, R

    2001-03-01

    Patients affected with X chromosome-linked, hereditary glucose-6-phosphate dehydrogenase (G6PD) deficiency suffer from life-threatening hemolytic crises after intake of certain drugs or foods. G6PD deficiency is associated with low levels of reduced glutathione. We analyzed mononuclear white blood cells (MNC) of three males suffering from the German G6PD Aachen variant, four heterozygote females of this family, one G6PD-deficient male from another family coming from Iran, and six healthy male volunteers with respect to their DNA damage in two different genes (G6PD and T-cell receptor-delta) and their propensity to enter apoptosis after UV illumination (0.08-5.28 J/cm2). As determined by PCR stop assays, there was more UV-induced DNA damage in MNC of G6PD-deficient male patients than in those of healthy subjects. MNC of G6PD-deficient patients showed a higher rate of apoptosis after UV irradiation than MNC of healthy donors. MNC of heterozygote females showed intermediate rates of DNA damage and apoptosis. It is concluded that increased DNA damage may be a result of deficient detoxification of reactive oxygen species by glutathione and may ultimately account for the higher rate of apoptosis in G6PD-deficient MNC.

  1. High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A- deficiency.

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    Caterina I Fanello

    Full Text Available BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common inherited human enzyme defect. This deficiency provides some protection from clinical malaria, but it can also cause haemolysis after administration of drugs with oxidant properties. METHODS: The safety of chlorproguanil-dapsone+artesunate (CD+A and amodiaquine+sulphadoxine-pyrimethamine (AQ+SP for the treatment of uncomplicated P. falciparum malaria was evaluated according to G6PD deficiency in a secondary analysis of an open-label, randomized clinical trial. 702 children, treated with CD+A or AQ+SP and followed for 28 days after treatment were genotyped for G6PD A- deficiency. FINDINGS: In the first 4 days following CD+A treatment, mean haematocrit declined on average 1.94% (95% CI 1.54 to 2.33 and 1.05% per day (95% CI 0.95 to 1.15 respectively in patients with G6PD deficiency and normal patients; a mean reduction of 1.3% per day was observed among patients who received AQ+SP regardless of G6PD status (95% CI 1.25 to 1.45. Patients with G6PD deficiency recipients of CD+A had significantly lower haematocrit than the other groups until day 7 (p = 0.04. In total, 10 patients had severe post-treatment haemolysis requiring blood transfusion. Patients with G6PD deficiency showed a higher risk of severe anaemia following treatment with CD+A (RR = 10.2; 95% CI 1.8 to 59.3 or AQ+SP (RR = 5.6; 95% CI 1.0 to 32.7. CONCLUSIONS: CD+A showed a poor safety profile in individuals with G6PD deficiency most likely as a result of dapsone induced haemolysis. Screening for G6PD deficiency before drug administration of potentially pro-oxidants drugs, like dapsone-containing combinations, although seldom available, is necessary.

  2. The Study of G6PD in Erythrocyte and Lens in Senile and Presenile Cataract

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    The G6PD activity of erythrocytes in 113 male patients with senile and presenile cataract and 86 controls, and G6PD activity of lens in 30 patients with senile cataract and 42 controls were reported. The cataractous group had higher frequency of G6PD deficiency and lower average G6PD level in erythrocytes and lenses, but with out statistical significance. The frequency of G6PD deficiency of erythrocytes in presenile cataractous group was higher than that of senile cataractous group but with no statistic...

  3. Glucose-6-phosphate dehydrogenase (G6PD mutations and haemoglobinuria syndrome in the Vietnamese population

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    Day Nick

    2009-07-01

    Full Text Available Abstract Background In Vietnam the blackwater fever syndrome (BWF has been associated with malaria infection, quinine ingestion and G6PD deficiency. The G6PD variants within the Vietnamese Kinh contributing to the disease risk in this population, and more generally to haemoglobinuria, are currently unknown. Method Eighty-two haemoglobinuria patients and 524 healthy controls were screened for G6PD deficiency using either the methylene blue reduction test, the G-6-PDH kit or the micro-methaemoglobin reduction test. The G6PD gene variants were screened using SSCP combined with DNA sequencing in 82 patients with haemoglobinuria, and in 59 healthy controls found to be G6PD deficient. Results This study confirmed that G6PD deficiency is strongly associated with haemoglobinuria (OR = 15, 95% CI [7.7 to 28.9], P G6PD variants were identified in the Vietnamese population, of which two are novel (Vietnam1 [Glu3Lys] and Vietnam2 [Phe66Cys]. G6PD Viangchan [Val291Met], common throughout south-east Asia, accounted for 77% of the variants detected and was significantly associated with haemoglobinuria within G6PD-deficient ethnic Kinh Vietnamese (OR = 5.8 95% CI [114-55.4], P = 0.022. Conclusion The primary frequency of several G6PD mutations, including novel mutations, in the Vietnamese Kinh population are reported and the contribution of G6PD mutations to the development of haemoglobinuria are investigated.

  4. G6PD (AC)n and (CTT)n microsatellites in Mexican Mestizos with common G6PD African variants.

    Science.gov (United States)

    Vaca, Gerardo

    2007-01-01

    Genotyping for the G6PD (AC)n and (CTT)n microsatellites in a sample of 58 Mexican Mestizos with common G6PD African variants was carried out. The second mutation that defines to the variants G6PD A(-202A/376G), G6PD Santamaria(376G/542T) and G6PD A(-376G/968C) very probably occurred on G6PD A(376G) chromosomes with the compound haplotypes, intragenic silent polymorphisms and microsatellites, Pvu-II/Pst-I/Bcl-I/Nla-III/(AC)n/(CTT)n: +/+/-/+/166 bp/195 bp, -/+/-/+/166 bp/201 bp, and -/+/-/+/166 bp/204 bp respectively. The structure of the repeat sequences for the AC-166 bp allele in the 3 variants was (TA)5(AA)1(TA)9(CA)10 whereas the repeat sequences for the CTT-195 bp, CTT-201 bp and CTT-204 bp alleles were (CTT)11(ATT)6, (CTT)7(ATT)12 and (CTT)7(ATT)13 in the first, second and third variants respectively. Genotyping for the G6PD microsatellites can be a useful tool with several applications.

  5. Side Effects of Transfusion of G6PD Deficient Blood in Neonates and Children

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    S.H. Nabavizadeh

    2007-01-01

    Full Text Available Introduction & Objective: Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common metabolic disease of red blood cells. It affects about 35 millions people in the entire world. Its incidence in IRAN is estimated to be 10-14.9%. Transfusion of G6PD deficient blood produces many untoward side effects in recipients. Despite the high incidence of the disease and such risks, blood donors are not screened routinely for this enzyme deficiency. This study performed on effects of G6PD deficient blood in patients admitted in Pediatric & Neonatal ward of Yasouj Emam Sajjad Hospital for detection of proposed side effects. Materials & Methods: Blood samples were obtained from 261 bags of blood during transfusion and the samples were checked for G6PD. Also patients receiving G6PD deficient blood were checked for hemoglobin, serum bilirubin and hemoglobinuria. Factors that tend to hemolysis in G6PD deficient patient were mentioned.Results: 37 (14.7% of samples were G6PD deficient. 81% of donors had at least a risk factor that tend to hemolysis in G6PD deficient state. Side effects of transfusion of G6PD deficient blood included: non significant elevation of hemoglobin (55.9%, hemoglobinuria (35.3% and increase in serum bilirubin (8.8%. Conclusion: It is recommended that in areas where G6PD deficiency is endemic, donors’ blood must be screened before transfusion.

  6. Abrogation of red blood cell G6PD enzyme activity through Heat treatment: development of survey material for the UK NEQAS G6PD scheme.

    Science.gov (United States)

    Roper, D R; De la Salle, B; Soni, V; Fletcher, K; Green, J A

    2017-06-01

    Participation in external quality assessment (EQA) is central to the maintenance of high-quality laboratory results in patient diagnosis and clinical trials. Laboratories in the TAF112582 DETECTIVE study (ClinicalTrials.gov identifier: NCT01376167) are enrolled in the United Kingdom National Quality Assessment Scheme (UK NEQAS) for glucose-6-phosphate dehydrogenase (G6PD) quantitative assay, which utilizes ovine (sheep) blood as a readily available source of apparently G6PD-deficient survey material. A substitute for sheep blood was sought because some non-UK sites in the study encountered participation difficulties due to the strict regulations on the import of sheep blood into their countries. G6PD activity in normal human donor blood was abrogated by the action of heat under controlled conditions. Residual G6PD activity in the heated samples was measured by UK NEQAS using the Trinity Biotech 345 kit (Trinity Biotech) and a Jenway 6715 UV/Vis spectrophotometer with external temperature control to monitor enzyme kinetics and linearity over a set time. Heat-treated material was also assayed for G6PD activity and assessed for its acceptability as EQA survey material by selected UK laboratories. Blood heated at 45 °C for 15 h showed a reduction in G6PD activity of 76.3 ± 4.6% (n = 6) and was considered acceptable as EQA material in terms of appearance and behaviour by the majority of UK sites in the trial. We have developed a simple heat-treatment procedure to produce EQA survey material with low/intermediate G6PD activity, similar to that found in females heterozygous for G6PD deficiency. © 2017 The Authors. International Journal of Laboratory Hematology Published by John Wiley & Sons Ltd.

  7. Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen).

    Science.gov (United States)

    Efferth, T; Osieka, R; Beutler, E

    2000-02-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern Europe. We describe the molecular characterization of a distinct variant from the northwestern area of Germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD Loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits. Copyright 2000 Academic Press.

  8. Evaluation of the diagnostic accuracy of CareStart G6PD deficiency Rapid Diagnostic Test (RDT in a malaria endemic area in Ghana, Africa.

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    Dennis Adu-Gyasi

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most widespread enzyme defect that can result in red cell breakdown under oxidative stress when exposed to certain medicines including antimalarials. We evaluated the diagnostic accuracy of CareStart G6PD deficiency Rapid Diagnostic Test (RDT as a point-of-care tool for screening G6PD deficiency.A cross-sectional study was conducted among 206 randomly selected and consented participants from a group with known G6PD deficiency status between February 2013 and June 2013. A maximum of 1.6ml of capillary blood samples were used for G6PD deficiency screening using CareStart G6PD RDT and Trinity qualitative with Trinity quantitative methods as the "gold standard". Samples were also screened for the presence of malaria parasites. Data entry and analysis were done using Microsoft Access 2010 and Stata Software version 12. Kintampo Health Research Centre Institutional Ethics Committee granted ethical approval.The sensitivity (SE and specificity (SP of CareStart G6PD deficiency RDT was 100% and 72.1% compared to Trinity quantitative method respectively and was 98.9% and 96.2% compared to Trinity qualitative method. Malaria infection status had no significant (P=0.199 change on the performance of the G6PD RDT test kit compared to the "gold standard".The outcome of this study suggests that the diagnostic performance of the CareStart G6PD deficiency RDT kit was high and it is acceptable at determining the G6PD deficiency status in a high malaria endemic area in Ghana. The RDT kit presents as an attractive tool for point-of-care G6PD deficiency for rapid testing in areas with high temperatures and less expertise. The CareStart G6PD deficiency RDT kit could be used to screen malaria patients before administration of the fixed dose primaquine with artemisinin-based combination therapy.

  9. Prevalence and hematological indicators of G6PD deficiency in malaria-infected patients

    Institute of Scientific and Technical Information of China (English)

    Manas Kotepui; Kwuntida Uthaisar; Bhukdee PhunPhuech; Nuoil Phiwklam

    2016-01-01

    Background:This study aimed to evaluate the prevalence and alteration of hematological parameters in malaria patients with a glucose-6-phosphate dehydrogenase (G6PD) deficiency,in the western region of Thailand,an endemic region for malaria.Methods:Data about patients with malaria hospitalized between 2013 and 2015 were collected.Clinical and sociodemographic characteristics such as age and gender,diagnosis on admission,and parasitological results were mined from medical records of the laboratory unit of the Phop Phra Hospital in Tak Province,Thailand.Venous blood samples were collected at the time of admission to hospital to determine G6PD deficiency by fluorescence spot test and detect malaria parasites by thick and thin film examination.Other data such as complete blood count and parasite density were also collected and analyzed.Results:Among the 245 malaria cases,28 (11.4 %) were diagnosed as Plasmodium falciparum infections and 217 cases (88.6 %) were diagnosed as P.vivax infections.Seventeen (6.9 %) patients had a G6PD deficiency and 228 (93.1%) patients did not have a G6PD deficiency.Prevalence of male patients with G6PD deficiency was higher than that of female patients (P < 0.05,OR =5.167).Among the patients with a G6PD deficiency,two (11.8 %) were infected with P.falciparum,while the remaining were infected with P.vivax.Malaria patients with a G6PD deficiency have higher monocyte counts (0.6 × 103/μL) than those without a G6PD deficiency (0.33 × 103/μL) (P< 0.05,OR=5.167).Univariate and multivariate analyses also confirmed that malaria patients with a G6PD deficiency have high monocyte counts.The association between G6PD status and monocyte counts was independent of age,gender,nationality,Plasmodium species,and parasite density (P < 0.005).Conclusion:This study showed a prevalence of G6PD deficiency in a malaria-endemic area.This study also supported the assertion that patients with G6PD-deficient red blood cells had no protection

  10. SIRT2 activates G6PD to enhance NADPH production and promote leukaemia cell proliferation

    Science.gov (United States)

    Xu, Shuang-Nian; Wang, Tian-Shi; Li, Xi; Wang, Yi-Ping

    2016-01-01

    Like most other types of cancer cells, leukaemia cells undergo metabolic reprogramming to support rapid proliferation through enhancing biosynthetic processes. Pentose phosphate pathway (PPP) plays a pivotal role in meeting the anabolic demands for cancer cells. However, the molecular mechanism by which PPP contributes to leukaemia remains elusive. Here, we report that leukaemia cell proliferation is dependent on the oxidative branch of PPP, in particular the first and rate-limiting enzyme glucose-6-phosphate dehydrogenase (G6PD). Knockdown of G6PD reduces NADPH level in acute myeloid leukaemia (AML) cell lines. Exogenous lipid supplements partially restore the proliferation of G6PD-depleted cells. Deacetylase SIRT2 promotes NADPH production through deacetylating G6PD at lysine 403 (K403). Activation of G6PD by SIRT2 supports the proliferation and clonogenic activity of leukaemia cells. Chemical inhibitors against SIRT2 suppress G6PD activity, leading to reduced cell proliferation of leukaemia cells, but not normal hematopoietic stem and progenitor cells. Importantly, SIRT2 is overexpressed in clinical AML samples, while K403 acetylation is downregulated and G6PD catalytic activity is increased comparing to that of normal control. Together, our study reveals that acetylation regulation of G6PD is involved in the metabolic reprogramming of AML, and SIRT2 serves as a promising target for further therapeutic investigations. PMID:27586085

  11. Post-operative audit of G6PD-Deficient male children with ...

    African Journals Online (AJOL)

    The fear of possible untoward effects is often expressed by parents of G6PD ... male children between ages 1 to 7years who had adenotonsillectomy over a ... Results: The patients comprised of 22 G6PD deficient male children diagnosed shortly after birth ... Hence, the benefit derived from the surgeries outweighs the risk of ...

  12. The Prevalence of Mediterranean Mutation of Glucose-6-Phosphate Dehydrogenase (G6PD in Zahedan

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    Alireza Nakhaee

    2012-03-01

    Full Text Available Background: glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common genetic defects in the world, so that more than 400 million people in worldwide are affected with it, but its prevalence varies from 1-65% in different populations. Clinical manifestation of this defect is acute hemolytic anemia, neonatal hyperbilirubinemia and chronic nonspherocytic haemolytic anaemia. So far, almost 140 mutations have been identified in the gene of G6PD enzyme. Mediterranean is the most common mutation. The purpose of this study is to determine the prevalence of G6PD Mediterranean mutation in the deficient people in the city of Zahedan.Materials and Methods: In this descriptive cross-sectional study, blood samples of 1440 male individuals, who were referred to Zahedan Reference Laboratory for premarital testing, were examined for G6PD deficiency using fluorescent spot test. Genomic DNA from blood of people with G6PD deficiency was extracted by DNA extraction kit. Mediterranean mutation was identified using PCR-RFLP method.Results: 101 out of 1440 subjects had G6PD deficiency. Therefore prevalence of G6PD deficiency in Zahedan city was estimated about 7%. Mediterranean mutation frequency in patients with defect of G6PD was estimated 84.2% (85 out of 101 patients and 15.8% (16 out of 101 patients did not have mutation Mediterranean. The frequency of G6PD deficiency was expressed as a percentage of total cases and Mediterranean mutation prevalence was expressed as a percentage of total impaired individuals.Conclusion: The result of this study showed that the frequency of G6PD deficiency in Zahedan city is lower than other cities of sistan and baluchestan province. Dominant mutation in present study was Mediterranean type and its frequency was very similar with prevalence of this mutation in other parts of Iran.

  13. Overexpression of G6PD Represents a Potential Prognostic Factor in Clear Cell Renal Cell Carcinoma

    Science.gov (United States)

    Zhang, Qiao; Yi, Xiaojia; Yang, Zhe; Han, Qiaoqiao; Di, Xuesong; Chen, Fufei; Wang, Yanling; Yi, Zihan; Kuang, Yingmin; Zhu, Yuechun

    2017-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) participates in glucose metabolism and it acts as the rate-limiting enzyme of the pentose phosphate pathway (PPP). Recently, G6PD dysregulation has been found in a variety of human cancers. Through analyzing published data in The Cancer Genome Atlas (TCGA), our pilot study indicated that G6PD mRNA expression was significantly higher in advanced Fuhrman grade in clear cell renal cell carcinoma (ccRCC). These clues promoted us to further evaluate the expression profile of G6PD and its prognostic impact in patients with ccRCC. In this study, G6PD expression levels were analyzed in 149 human ccRCC and normal tissues using immunohistochemistry. The results showed that compared with that in the normal renal samples, G6PD was found highly expressed in 51.0% of ccRCC (p<0.05). High expression of G6PD was significantly correlated to tumor extent, lymph node metastasis, Fuhrman grade, and TNM stage of ccRCC (all p<0.05). Moreover, positive G6PD expression was associated with poorer overall survival in ccRCC (p<0.001). In Cox regression analyses, high expression of G6PD also could be an independent prognostic factor for overall survival in ccRCC (p=0.007). This study suggests that overexpression of G6PD is associated with advanced disease status and therefore may become an important prognosticator for poor outcomes in ccRCC, as well as a potential therapeutic target for developing effective treatment modalities. PMID:28367246

  14. Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition

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    Jonathan W. Nyce

    2017-01-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is an oncoprotein that is overexpressed in cancer cells to provide the NADPH required for their increased anabolism. NADPH, sourced from G6PD fuels nucleotide biosynthesis, maintains redox potential of thioredoxin and glutathione and drives the mevalonate pathway that powers many of the basic mechanisms by which cancer cells escape host control. G6PD is thus a target for cancer treatment being addressed by many groups around the world. We have discovered that systemic inhibition of G6PD by high dose dehydroepiandrosterone (DHEA causes a severe autoinflammatory response in dogs, which does not occur in mice or rats. Since dogs more closely model the human adrenal androgen system than do common laboratory animals, this finding is relevant to the design of G6PD-inhibiting drugs for humans. The autoinflammatory reaction observed closely resembles mevalonate kinase deficiency (MKD, a rare autosomal recessive disease in humans characterized by recurrent febrile attacks, arthralgia, skin rash, and aphthous ulcers of mucocutaneous tissues. In a manner comparable to animal models of MKD, the reconstitution of protein geranylgeranylation blocked the autoinflammatory reaction caused by systemic G6PD inhibition. This autoinflammatory response to systemic G6PD inhibition represents an unexpected result that must be taken into consideration when targeting this oncoprotein.

  15. Characterization of G6PD genotypes and phenotypes on the northwestern Thailand-Myanmar border.

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    Germana Bancone

    Full Text Available Mutations in the glucose-6-phosphate dehydrogenase (G6PD gene result in red blood cells with increased susceptibility to oxidative damage. Significant haemolysis can be caused by primaquine and other 8-aminoquinoline antimalarials used for the radical treatment of Plasmodium vivax malaria. The distribution and phenotypes of mutations causing G6PD deficiency in the male population of migrants and refugees in a malaria endemic region on the Thailand-Myanmar border were characterized. Blood samples for G6PD fluorescent spot test (FST, G6PD genotyping, and malaria testing were taken from 504 unrelated males of Karen and Burman ethnicities presenting to the outpatient clinics. The overall frequency of G6PD deficiency by the FST was 13.7%. Among the deficient subjects, almost 90% had the Mahidol variant (487G>A genotype. The remaining subjects had Chinese-4 (392G>T, Viangchan (871G>A, Açores (595A>G, Seattle (844G>C and Mediterranean (563C>T variants. Quantification of G6PD activity was performed using a modification of the standard spectrophotometric assay on a subset of 24 samples with Mahidol, Viangchan, Seattle and Chinese-4 mutations; all samples showed a residual enzymatic activity below 10% of normal and were diagnosed correctly by the FST. Further studies are needed to characterise the haemolytic risk of using 8-aminoquinolines in patients with these genotypes.

  16. The Effect of Progressive Aerobic Exercise On G6PD Activity Among Active and Sedentary Men

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    Amin Allah Dashtiyan

    2014-10-01

    Full Text Available Background: Erythrocyte glucose–6–phosphate dehydrogenase (G6PD activity is highly associated with free radical production. G6PD deficiency can increase the sensitivity of erythrocytes to oxidative stress resulting in hemolytic anemia. Aim: to study the main effect of progressive aerobic exercise on G6PD activity in active and sedentary men. Material and Methods: the study comprised 10 active men and 10 sedentary men. The protocol, started with running at approximately %75 of their maximal oxygen uptake for 30 min x times a week for y weeks. Venous blood samples (5ml were collected prior to, immediately after, 2 hours and 24 hours after exercise. G6PD activity was evaluated with auto-Analyzer Method. Result: G6PD was not significantly higher in the active men in comparison with the sedentary men at baseline (10.5 ± 1.2 (IU/gHb VS 9.5 ± 1.0 (IU/gHb, P ≤ 0.05. G6PD activity was increased significantly in both groups immediately after exercise but was not considerably different between the groups (11.6 ± 2.7 (IU/gHb VS 9.9 ± 1.1 (IU/gHb, for active and sedentary men, respectively; P ≤ 0.05. G6PD returned to the baseline levels 2 hours after exercise in active men but remained high in sedentary men (10.5 ± 1.4 (IU/gHb VS 10.1 ± 1.1 (IU/gHb, P ≤ 0.05. Also, G6PD levels showed a significant increase 24 hours after exercise in the active men in comparison with the sedentary men (11.8 ± 2.5 (IU/gHb VS 9.5 ± 1.5 (IU/gHb, P ≤ 0.05. Conclusion: In this regard, it can be concluded that, progressive aerobic exercise may be an effective factor affecting the levels of G6PD significantly, and as a home message it is useful for controlling the hemolytic anemia among sedentary population. Keywords: G6PD activity, progressive aerobic exercise, hemolytic anemia

  17. THE ASSOCIATION BETWEEN G6PD DEFICIENCY AND TOTAL SERUM BILIRUBIN LEVEL IN ICTERIC NEONATES

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    S. Behjati-Ardakani

    2007-07-01

    Full Text Available "nGlucose-6-phosphate dehydrogenase (G6PD deficiency is the most important disease of the hexose monophosphate pathway. Deficiency of this enzym can lead to hemolysis of red blood cells. Our aim was to study the prevalence of G6PD deficiency in relation to neonatal jaundice. We studied 456 clinically icteric neonates Laboratory investigations included determination of direct and indirect serum bilirubin concentrations, blood group typing, direct coomb's test, hemoglobin, blood smear, reticulocyte count and G6PD level. We divided these neonates to 3 groups based on total serum bilirubin level (TSB: TSB< 20 mg%, TSB=20-25 mg%, and TSB>25 mg%. In only 35 (7.6% of cases G6PD deficiency was diagnosed. All of these babies were male. From 456 icteric neonates, 213 cases belong to group 1 (TSB<20 mg%, 158 cases belong to group 2 (TSB=20-25 mg% and 85 cases belong to group 3 (TSB>25 mg%. 16 neonates from 213 neonates of group 1, 6 neonates from 158 neonates of group 2 and 13 neonates from 85 neonates of group 3 had G6PD deficiency. There was statistically significant difference of prevalence of G6PD deficiency between group 2 and 3 ( 15.3% vs 3.8%( P = 0.001. Between groups 1 vs 2 and 1 vs 3 no statistically significant difference was found. Early detection of this enzymopathy regardless of sex and close surveillance of the affected newborns may be important in reducing the risk of severe hyperbilirubinemia. This emphasizes the necessity of neonatal screening on cord blood samples for G6PD deficiency.

  18. G6PD deficiency: global distribution, genetic variants and primaquine therapy.

    Science.gov (United States)

    Howes, Rosalind E; Battle, Katherine E; Satyagraha, Ari W; Baird, J Kevin; Hay, Simon I

    2013-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) is a potentially pathogenic inherited enzyme abnormality and, similar to other human red blood cell polymorphisms, is particularly prevalent in historically malaria endemic countries. The spatial extent of Plasmodium vivax malaria overlaps widely with that of G6PD deficiency; unfortunately the only drug licensed for the radical cure and relapse prevention of P. vivax, primaquine, can trigger severe haemolytic anaemia in G6PD deficient individuals. This chapter reviews the past and current data on this unique pharmacogenetic association, which is becoming increasingly important as several nations now consider strategies to eliminate malaria transmission rather than control its clinical burden. G6PD deficiency is a highly variable disorder, in terms of spatial heterogeneity in prevalence and molecular variants, as well as its interactions with P. vivax and primaquine. Consideration of factors including aspects of basic physiology, diagnosis, and clinical triggers of primaquine-induced haemolysis is required to assess the risks and benefits of applying primaquine in various geographic and demographic settings. Given that haemolytically toxic antirelapse drugs will likely be the only therapeutic options for the coming decade, it is clear that we need to understand in depth G6PD deficiency and primaquine-induced haemolysis to determine safe and effective therapeutic strategies to overcome this hurdle and achieve malaria elimination.

  19. Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario

    OpenAIRE

    Mukherjee, Malay B.; Colah, Roshan B; Martin, Snehal; Ghosh, Kanjaksha

    2015-01-01

    It is believed that the tribal people, who constitute 8.6 per cent of the total population (2011 census of India), are the original inhabitants of India. Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an X-linked genetic defect, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity. Deficiency of this enzyme is highly polymorphic in those areas where malaria is/has been endemic. G6PD deficiency was reported from Indi...

  20. The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan.

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    Toby Leslie

    2010-05-01

    Full Text Available BACKGROUND: The most common form of malaria outside Africa, Plasmodium vivax, is more difficult to control than P. falciparum because of the latent liver hypnozoite stage, which causes multiple relapses and provides an infectious reservoir. The African (A- G6PD (glucose-6-phosphate dehydrogenase deficiency confers partial protection against severe P. falciparum. Recent evidence suggests that the deficiency also confers protection against P. vivax, which could explain its wide geographical distribution in human populations. The deficiency has a potentially serious interaction with antirelapse therapies (8-aminoquinolines such as primaquine. If the level of protection was sufficient, antirelapse therapy could become more widely available. We therefore tested the hypothesis that G6PD deficiency is protective against vivax malaria infection. METHODS AND FINDINGS: A case-control study design was used amongst Afghan refugees in Pakistan. The frequency of phenotypic and genotypic G6PD deficiency in individuals with vivax malaria was compared against controls who had not had malaria in the previous two years. Phenotypic G6PD deficiency was less common amongst cases than controls (cases: 4/372 [1.1%] versus controls 42/743 [5.7%]; adjusted odds ratio [AOR] 0.18 [95% confidence interval (CI 0.06-0.52], p = 0.001. Genetic analysis demonstrated that the G6PD deficiency allele identified (Mediterranean type was associated with protection in hemizygous deficient males (AOR = 0.12 [95% CI 0.02-0.92], p = 0.041. The deficiency was also protective in females carrying the deficiency gene as heterozygotes or homozygotes (pooled AOR = 0.37 [95% CI 0.15-0.94], p = 0.037. CONCLUSIONS: G6PD deficiency (Mediterranean type conferred significant protection against vivax malaria infection in this population whether measured by phenotype or genotype, indicating a possible evolutionary role for vivax malaria in the selective retention of the G6PD deficiency trait in human

  1. Telomerase prevents accelerated senescence in glucose-6-phosphate dehydrogenase (G6PD-deficient human fibroblasts

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    Wu Yi-Hsuan

    2009-02-01

    Full Text Available Abstract Fibroblasts derived from glucose-6-phosphate dehydrogenase (G6PD-deficient patients display retarded growth and accelerated cellular senescence that is attributable to increased accumulation of oxidative DNA damage and increased sensitivity to oxidant-induced senescence, but not to accelerated telomere attrition. Here, we show that ectopic expression of hTERT stimulates telomerase activity and prevents accelerated senescence in G6PD-deficient cells. Stable clones derived from hTERT-expressing normal and G6PD-deficient fibroblasts have normal karyotypes, and display no sign of senescence beyond 145 and 105 passages, respectively. Activation of telomerase, however, does not prevent telomere attrition in earlier-passage cells, but does stabilize telomere lengths at later passages. In addition, we provide evidence that ectopic expression of hTERT attenuates the increased sensitivity of G6PD-deficient fibroblasts to oxidant-induced senescence. These results suggest that ectopic expression of hTERT, in addition to acting in telomere length maintenance by activating telomerase, also functions in regulating senescence induction.

  2. O-GlcNAcylation of G6PD promotes the pentose phosphate pathway and tumor growth.

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    Rao, Xiongjian; Duan, Xiaotao; Mao, Weimin; Li, Xuexia; Li, Zhonghua; Li, Qian; Zheng, Zhiguo; Xu, Haimiao; Chen, Min; Wang, Peng G; Wang, Yingjie; Shen, Binghui; Yi, Wen

    2015-09-24

    The pentose phosphate pathway (PPP) plays a critical role in macromolecule biosynthesis and maintaining cellular redox homoeostasis in rapidly proliferating cells. Upregulation of the PPP has been shown in several types of cancer. However, how the PPP is regulated to confer a selective growth advantage on cancer cells is not well understood. Here we show that glucose-6-phosphate dehydrogenase (G6PD), the rate-limiting enzyme of the PPP, is dynamically modified with an O-linked β-N-acetylglucosamine sugar in response to hypoxia. Glycosylation activates G6PD activity and increases glucose flux through the PPP, thereby providing precursors for nucleotide and lipid biosynthesis, and reducing equivalents for antioxidant defense. Blocking glycosylation of G6PD reduces cancer cell proliferation in vitro and impairs tumor growth in vivo. Importantly, G6PD glycosylation is increased in human lung cancers. Our findings reveal a mechanistic understanding of how O-glycosylation directly regulates the PPP to confer a selective growth advantage to tumours.

  3. G6PD Deficiency and Antimalarial Efficacy for Uncomplicated Malaria in Bangladesh: A Prospective Observational Study

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    Ley, Benedikt; Alam, Mohammad Shafiul; Thriemer, Kamala; Hossain, Mohammad Sharif; Kibria, Mohammad Golam; Auburn, Sarah; Poirot, Eugenie; Price, Ric N.; Khan, Wasif Ali

    2016-01-01

    Background The Bangladeshi national treatment guidelines for uncomplicated malaria follow WHO recommendations but without G6PD testing prior to primaquine administration. A prospective observational study was conducted to assess the efficacy of the current antimalarial policy. Methods Patients with uncomplicated malaria, confirmed by microscopy, attending a health care facility in the Chittagong Hill Tracts, Bangladesh, were treated with artemether-lumefantrine (days 0–2) plus single dose primaquine (0.75mg/kg on day2) for P. falciparum infections, or with chloroquine (days 0–2) plus 14 days primaquine (3.5mg/kg total over 14 days) for P. vivax infections. Hb was measured on days 0, 2 and 9 in all patients and also on days 16 and 30 in patients with P. vivax infection. Participants were followed for 30 days. The study was registered with the clinical trials website (NCT02389374). Results Between September 2014 and February 2015 a total of 181 patients were enrolled (64% P. falciparum, 30% P. vivax and 6% mixed infections). Median parasite clearance times were 22.0 (Interquartile Range, IQR: 15.2–27.3) hours for P. falciparum, 20.0 (IQR: 9.5–22.7) hours for P. vivax and 16.6 (IQR: 10.0–46.0) hours for mixed infections. All participants were afebrile within 48 hours, two patients with P. falciparum infection remained parasitemic at 48 hours. No patient had recurrent parasitaemia within 30 days. Adjusted male median G6PD activity was 7.82U/gHb. One male participant (1/174) had severe G6PD deficiency (<10% activity), five participants (5/174) had mild G6PD deficiency (10–60% activity). The Hb nadir occurred on day 2 prior to primaquine treatment in P. falciparum and P. vivax infected patients; mean fractional fall in Hb was -8.8% (95%CI -6.7% to -11.0%) and -7.4% (95%CI: -4.5 to -10.4%) respectively. Conclusion The current antimalarial policy remains effective. The prevalence of G6PD deficiency was low. Main contribution to haemolysis in G6PD normal

  4. G6PD Deficiency and Antimalarial Efficacy for Uncomplicated Malaria in Bangladesh: A Prospective Observational Study.

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    Benedikt Ley

    Full Text Available The Bangladeshi national treatment guidelines for uncomplicated malaria follow WHO recommendations but without G6PD testing prior to primaquine administration. A prospective observational study was conducted to assess the efficacy of the current antimalarial policy.Patients with uncomplicated malaria, confirmed by microscopy, attending a health care facility in the Chittagong Hill Tracts, Bangladesh, were treated with artemether-lumefantrine (days 0-2 plus single dose primaquine (0.75mg/kg on day2 for P. falciparum infections, or with chloroquine (days 0-2 plus 14 days primaquine (3.5mg/kg total over 14 days for P. vivax infections. Hb was measured on days 0, 2 and 9 in all patients and also on days 16 and 30 in patients with P. vivax infection. Participants were followed for 30 days. The study was registered with the clinical trials website (NCT02389374.Between September 2014 and February 2015 a total of 181 patients were enrolled (64% P. falciparum, 30% P. vivax and 6% mixed infections. Median parasite clearance times were 22.0 (Interquartile Range, IQR: 15.2-27.3 hours for P. falciparum, 20.0 (IQR: 9.5-22.7 hours for P. vivax and 16.6 (IQR: 10.0-46.0 hours for mixed infections. All participants were afebrile within 48 hours, two patients with P. falciparum infection remained parasitemic at 48 hours. No patient had recurrent parasitaemia within 30 days. Adjusted male median G6PD activity was 7.82U/gHb. One male participant (1/174 had severe G6PD deficiency (<10% activity, five participants (5/174 had mild G6PD deficiency (10-60% activity. The Hb nadir occurred on day 2 prior to primaquine treatment in P. falciparum and P. vivax infected patients; mean fractional fall in Hb was -8.8% (95%CI -6.7% to -11.0% and -7.4% (95%CI: -4.5 to -10.4% respectively.The current antimalarial policy remains effective. The prevalence of G6PD deficiency was low. Main contribution to haemolysis in G6PD normal individuals was attributable to acute malaria rather

  5. G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon.

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    Dombrowski, Jamille G; Souza, Rodrigo M; Curry, Jonathan; Hinton, Laura; Silva, Natercia R M; Grignard, Lynn; Gonçalves, Ligia A; Gomes, Ana Rita; Epiphanio, Sabrina; Drakeley, Chris; Huggett, Jim; Clark, Taane G; Campino, Susana; Marinho, Claudio R F

    2017-06-15

    Plasmodium vivax parasites are the predominant cause of malaria infections in the Brazilian Amazon. Infected individuals are treated with primaquine, which can induce haemolytic anaemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals and may lead to severe and fatal complications. This X-linked disorder is distributed globally and is caused by allelic variants with a geographical distribution that closely reflects populations exposed historically to endemic malaria. In Brazil, few studies have reported the frequency of G6PD deficiency (G6PDd) present in malaria-endemic areas. This is particularly important, as G6PDd screening is not currently performed before primaquine treatment. The aim of this study was to determine the prevalence of G6PDd in the region of Alto do Juruá, in the Western Brazilian Amazon, an area characterized by a high prevalence of P. vivax infection. Five-hundred and sixteen male volunteers were screened for G6PDd using the fluorescence spot test (Beutler test) and CareStart™ G6PD Biosensor system. Demographic and clinical-epidemiological data were acquired through an individual interview. To assess the genetic basis of G6PDd, 24 SNPs were genotyped using the Kompetitive Allele Specific PCR assay. Twenty-three (4.5%) individuals were G6PDd. No association was found between G6PDd and the number of malaria cases. An increased risk of reported haemolysis symptoms and blood transfusions was evident among the G6PDd individuals. Twenty-two individuals had the G6PDd A(-) variant and one the G6PD A(+) variant. The Mediterranean variant was not present. Apart from one polymorphism, almost all SNPs were monomorphic or with low frequencies (0-0.04%). No differences were detected among ethnic groups. The data indicates that ~1/23 males from the Alto do Juruá could be G6PD deficient and at risk of haemolytic anaemia if treated with primaquine. G6PD A(-) is the most frequent deficiency allele in this population. These results concur

  6. G6pd Deficiency Does Not Affect the Cytosolic Glutathione or Thioredoxin Antioxidant Defense in Mouse Cochlea.

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    White, Karessa; Kim, Mi-Jung; Ding, Dalian; Han, Chul; Park, Hyo-Jin; Meneses, Zaimary; Tanokura, Masaru; Linser, Paul; Salvi, Richard; Someya, Shinichi

    2017-06-07

    Glucose-6-phosphate dehydrogenase (G6PD) is the first and rate-limiting enzyme of the pentose phosphate pathway; it catalyzes the conversion of glucose-6-phosphate to 6-phosphogluconate and NADP(+) to NADPH and is thought to be the principal source of NADPH for the cytosolic glutathione and thioredoxin antioxidant defense systems. We investigated the roles of G6PD in the cytosolic antioxidant defense in the cochlea of G6pd hypomorphic mice that were backcrossed onto normal-hearing CBA/CaJ mice. Young G6pd-deficient mice displayed a significant decrease in cytosolic G6PD protein levels and activities in the inner ears. However, G6pd deficiency did not affect the cytosolic NADPH redox state, or glutathione or thioredoxin antioxidant defense in the inner ears. No histological abnormalities or oxidative damage was observed in the cochlea of G6pd hemizygous males or homozygous females. Furthermore, G6pd deficiency did not affect auditory brainstem response hearing thresholds, wave I amplitudes or wave I latencies in young males or females. In contrast, G6pd deficiency resulted in increased activities and protein levels of cytosolic isocitrate dehydrogenase 1, an enzyme that catalyzes the conversion of isocitrate to α-ketoglutarate and NADP(+) to NADPH, in the inner ear. In a mouse inner ear cell line, knockdown of Idh1, but not G6pd, decreased cell growth rates, cytosolic NADPH levels, and thioredoxin reductase activities. Therefore, under normal physiological conditions, G6pd deficiency does not affect the cytosolic glutathione or thioredoxin antioxidant defense in mouse cochlea. Under G6pd deficiency conditions, isocitrate dehydrogenase 1 likely functions as the principal source of NADPH for cytosolic antioxidant defense in the cochlea.SIGNIFICANCE STATEMENT Glucose-6-phosphate dehydrogenase (G6PD) is the first and rate-limiting enzyme of the pentose phosphate pathway; it catalyzes the conversion of glucose-6-phosphate to 6-phosphogluconate and NADP(+) to NADPH and

  7. Validation of the rapid test Carestart(tm G6PD among malaria vivax-infected subjects in the Brazilian Amazon

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    Marcelo Augusto Mota Brito

    Full Text Available Abstract: INTRODUCTION: In the Brazilian Amazon, malaria infections are primarily caused by Plasmodium vivax. The only drug that kills the hypnozoite form of P. vivax is primaquine, thereby preventing relapse. However, treating glucose-6-phosphate dehydrogenase (G6PD-deficient individuals with primaquine can lead to severe hemolysis. G6PD deficiency (G6PDd affects approximately 400 million people worldwide, most of whom live in malaria-endemic areas. Therefore, clinicians need tools that can easily and reliably identify individuals with G6PDd. This study estimated the accuracy of the Carestart(tm G6PD rapid test (Access Bio in the diagnosis of G6PDd in male participants with and without P. vivax acute malaria. METHODS: Male participants were recruited in Manaus. Malaria diagnosis was determined by thick blood smear. G6PD quantitative analysis was performed spectro photometrically at a wave length of 340nm. The Carestart(tm G6PD test was performed using venous blood. Genotyping was performed for individuals whose samples had an enzyme activity less than 70% of the normal value. RESULTS: Six hundred and seventy-four male participants were included in this study, of whom 320 had a diagnosis of P. vivax malaria. In individuals with enzyme activity lower than 30% (n=13, the sensitivity, specificity, positive predictive value, and negative predictive value of the Carestart(tm G6PD test were as follows: 61.5% (95%CI: 35.5%-82.3%, 98.3% (95%CI: 97.0%-99.1%, 42.1% (95%CI: 23.1%-63.7%, and 99.2% (95%CI: 98.2%-82.3%, 98.3% (95%CI: 97.0%-99.1%, 42.1% (95%CI: 23.1%-63.7%, and 99.2% (95%CI: 98.2%-99.7%, respectively. Increases in sensitivity were observed when increasing the cut-off value. CONCLUSIONS: Despite low sensitivity, Carestart(tm G6PD remains a good alternative for rapid diagnosis of G6PDd in malaria-endemic regions.

  8. Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery

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    Vivek Chowdhry

    2012-01-01

    Full Text Available We describe a successful perioperative management of a case of 38-year-old male, presented with chronic jaundice with severe mitral stenosis and moderate tricuspid regurgitation; upon evaluation, he was found to have severe glucose-6-phosphate dehydrogenase (G6PD deficiency. Usually, patients deficient in G6PD exhibit increased hemolysis andtherefore increased need for blood transfusion after cardiac surgery as well as impaired oxygenation in the postoperative period leading to prolonged ventilation. On reperfusion after a period of ischemia, the antioxidant system recruits all of its components in an attempt to neutralize the overwhelming oxidative stress of free radicals, as the free radical scavenging system is deficient in these patients, the chances of free-radical-induced injury is more. Our patient underwent mitral valve replacement and tricuspid annuloplasty under cardiopulmonary bypass with necessary precautions to reduce the formation of free radicals. Treatment was targeted toward theprevention of free radical injuryin the G6PD-deficient patient. He had an uneventful intraoperative and postoperative course.

  9. The Stability of G6PD Is Affected by Mutations with Different Clinical Phenotypes

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    Saúl Gómez-Manzo

    2014-11-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common enzyme deficiency worldwide, causing a wide spectrum of conditions with severity classified from the mildest (Class IV to the most severe (Class I. To correlate mutation sites in the G6PD with the resulting phenotypes, we studied four naturally occurring G6PD variants: Yucatan, Nashville, Valladolid and Mexico City. For this purpose, we developed a successful over-expression method that constitutes an easier and more precise method for obtaining and characterizing these enzymes. The kcat (catalytic constant of all the studied variants was lower than in the wild-type. The structural rigidity might be the cause and the most evident consequence of the mutations is their impact on protein stability and folding, as can be observed from the protein yield, the T50 (temperature where 50% of its original activity is retained values, and differences on hydrophobic regions. The mutations corresponding to more severe phenotypes are related to the structural NADP+ region. This was clearly observed for the Classes III and II variants, which became more thermostable with increasing NADP+, whereas the Class I variants remained thermolabile. The mutations produce repulsive electric charges that, in the case of the Yucatan variant, promote increased disorder of the C-terminus and consequently affect the binding of NADP+, leading to enzyme instability.

  10. Assessment of Point-of-Care Diagnostics for G6PD Deficiency in Malaria Endemic Rural Eastern Indonesia.

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    Ari W Satyagraha

    2016-02-01

    Full Text Available Patients infected by Plasmodium vivax or Plasmodium ovale suffer repeated clinical attacks without primaquine therapy against latent stages in liver. Primaquine causes seriously threatening acute hemolytic anemia in patients having inherited glucose-6-phosphate dehydrogenase (G6PD deficiency. Access to safe primaquine therapy hinges upon the ability to confirm G6PD normal status. CareStart G6PD, a qualitative G6PD rapid diagnostic test (G6PD RDT intended for use at point-of-care in impoverished rural settings where most malaria patients live, was evaluated.This device and the standard qualitative fluorescent spot test (FST were each compared against the quantitative spectrophotometric assay for G6PD activity as the diagnostic gold standard. The assessment occurred at meso-endemic Panenggo Ede in western Sumba Island in eastern Indonesia, where 610 residents provided venous blood. The G6PD RDT and FST qualitative assessments were performed in the field, whereas the quantitative assay was performed in a research laboratory at Jakarta. The median G6PD activity ≥ 5 U/gHb was 9.7 U/gHb and was considered 100% of normal activity. The prevalence of G6PD deficiency by quantitative assessment (<5 U/gHb was 7.2%. Applying 30% of normal G6PD activity as the cut-off for qualitative testing, the sensitivity, specificity, positive predictive value, and negative predictive value for G6PD RDT versus FST among males were as follows: 100%, 98.7%, 89%, and 100% versus 91.7%, 92%, 55%, and 99%; P = 0.49, 0.001, 0.004, and 0.24, respectively. These values among females were: 83%, 92.7%, 17%, and 99.7% versus 100%, 92%, 18%, and 100%; P = 1.0, 0.89, 1.0 and 1.0, respectively.The overall performance of G6PD RDT, especially 100% negative predictive value, demonstrates suitable safety for G6PD screening prior to administering hemolytic drugs like primaquine and many others. Relatively poor diagnostic performance among females due to mosaic G6PD phenotype is an

  11. Modeling Plasmodium vivax: relapses, treatment, seasonality, and G6PD deficiency.

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    Chamchod, Farida; Beier, John C

    2013-01-07

    Plasmodium vivax (P. vivax) is one of the most important human malaria species that is geographically widely endemic and causes social and economic burden globally. However, its consequences have long been neglected and underestimated as it has been mistakenly considered a benign and inconsequential malaria species as compared to Plasmodium falciparum. One of the important differences between P. falciparum and P. vivax is the formation of P. vivax latent-stage parasites (hypnozoites) that can cause relapses after a course of treatment. In this work, mathematical modeling is employed to investigate how patterns of incubation periods and relapses of P. vivax, variation in treatment, and seasonal abundance of mosquitoes influence the number of humans infected with P. vivax and the mean age at infection of humans in tropical and temperate regions. The model predicts that: (i) the number of humans infected with P. vivax may increase when an incubation period of parasites in humans and a latent period of hypnozoites decrease; (ii) without primaquine, the only licensed drug to prevent relapses, P. vivax may be highly prevalent; (iii) the mean age at infection of humans may increase when a latent period of hypnozoites increases; (iv) the number of infectious humans may peak at a few months before the middle of each dry season and the number of hypnozoite carriers may peak at nearly the middle of each dry season. In addition, glucose-6-phosphate-dehydrogenase (G6PD) deficiency, which is the most common enzyme defect in humans that may provide some protection against P. vivax infection and severity, is taken into account to study its impact on the number of humans infected with P. vivax. Modeling results indicate that the increased number of infected humans may result from a combination of a larger proportion of humans with G6PD deficiency in the population, a lesser protection of G6PD deficiency to P. vivax infection, and a shorter latent period of hypnozoites.

  12. Interesting case of G6PD deficiency anemia with severe hemolysis

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    Anupam Chhabra

    2013-01-01

    Full Text Available Severe hemolysis was observed in a critically ill patient with G6Pd deficiency where the causative trigger could not be identified. We describe one young patient with severe hemolysis treated with two cycles of plasmapheresis which proved to be an effective tool in the treatment. The patient presented with diffuse pain abdomen, vomiting, yellowish discoloration of sclera and skin and acute breathlessness. Hemoglobin 5.4 mg/dl and total (T serum bilirubin 17.08 mg/dl: Direct (D 4.10 mg/dl and Indirect (I 12.98 mg/dl. Subsequently patient started passing black color urine. As the patient developed severe hemolysis and the trigger agent of hemolysis was unknown, two cycles of plasmapheresis were performed with the aim to remove unknown causative agent. Consequently no trace of hemolysis was found and patient stabilized. Plasmapheresis can be used to treat G6PD deficient patients with severe hemolysis due to unidentified trigger agent.

  13. Precautionary Measures for Successful Open Heart Surgery in G6PD Deficient Patient- A Case Report

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    2016-01-01

    Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is among the most common enzymatic disorders of red blood cells. Cardiac surgeries on this group of individuals are associated with an additional risk in terms of impaired oxygenation, prolonged ventilation and increased risk of haemolysis. These patients have a very low threshold for haemolysis due to oxidative stress. Many commonly used drugs also predispose the individual for haemolysis when they are subjected to surgery. Here we present a known case of G6PD deficient patient with symptoms of breathlessness for the last nine years who was taken for surgery with pre-planned precautionary measures to avoid unnecessary haemolysis. The echocardiography report revealed severe mixed mitral lesion and moderate tricuspid regurgitation. On general examination she had mild pallor and icterus. We planned for a thorough investigation to prepare her for mitral valve replacement and tricuspid annuloplasty. These groups of patients are at high risk of haemolysis during perioperative period and need prolonged mechanical ventilation and hospital stay due to impaired oxygen carrying capacity and oxidative stress due to deficient free radical scavenging system. The patient underwent mechanical mitral valve replacement and tricuspid annuloplasty under cardiopulmonary bypass with precautionary measures to prevent the risk of haemolysis and associated complications. She had an uneventful recovery. PMID:28208930

  14. Phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes.

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    Saha, N; Patgunarajah, N

    1981-08-01

    The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these polymorphisms. However, there was a lack of acid phosphatase AB in G6PD deficient subjects from Nilgiris. The relative quantitative expression of red cell acid phosphatase genes PA, PB, and PC was 1.0, 1.2, and 1.3, respectively. The red cell acid phosphatase activity was higher (15%) in the presence of raised haemoglobin A2 and in sickle cell anaemia (21%). Those with Hp2 had 18% higher level of acid phosphatase than those with Hp1. G6PD deficient subjects had a lower level of acid phosphatase activity (20%) than those with normal G6PD activity.

  15. A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency.

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    Boonyuen, Usa; Chamchoy, Kamonwan; Swangsri, Thitiluck; Junkree, Thanyaphorn; Day, Nicholas P J; White, Nicholas J; Imwong, Mallika

    2017-11-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. It is responsible for various clinical manifestations, including favism, hemolytic anemia, chronic non-spherocytic hemolytic anemia, spontaneous abortion, and neonatal hyperbilirubinemia. Understanding the molecular mechanisms underlying the severity of G6PD deficiency is of great importance but that of many G6PD variants are still unknown. In this study, we report the construction, expression, purification, and biochemical characterization in terms of kinetic properties and stability of five clinical G6PD variants-G6PD Bangkok, G6PD Bangkok noi, G6PD Songklanagarind, G6PD Canton+Bangkok noi, and G6PD Union+Viangchan. G6PD Bangkok and G6PD Canton+Bangkok noi showed a complete loss of catalytic activity and moderate reduction in thermal stability when compared with the native G6PD. G6PD Bangkok noi and G6PD Union+Viangchan showed a significant reduction in catalytic efficiency, whereas G6PD Songklanagarind showed a catalytic activity comparable to the wild-type enzyme. The Union+Viangchan mutation showed a remarkable effect on the global stability of the enzyme. In addition, our results indicate that the location of mutations in G6PD variants affects their catalytic activity, stability, and structure. Hence, our results provide a molecular explanation for clinical manifestations observed in individuals with G6PD deficiency. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  16. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso

    Institute of Scientific and Technical Information of China (English)

    Abdoul Karim Ouattara; Cyrille Bisseye; Birama Diarra; Tegwind Rebeca Compaore; Florencia Djigma; Virginio Pietra; Remy Moret; Jacques Simpore

    2014-01-01

    Objective: To investigate 4 combinations of mutations responsible for glucose-6-phosphate dehydrogenase (G6PD) deficiency in a rural community of Burkina Faso, a malaria endemic country. Methods: Two hundred individuals in a rural community were genotyped for the mutations A376G, G202A, A542T, G680T and T968C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism. Results: The prevalence of the G6PD deficiency was 9.5% in the study population. It was significantly higher in men compared to women (14.3%vs 6.0%, P=0.049). The 202A/376G G6PD A-was the only deficient variant detected. Plasmodium falciparum asymptomatic parasitaemia was significantly higher among the G6PD-non-deficient persons compared to the G6PD-deficient (P Conclusions:This study showed that the G6PD A-variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.

  17. Field trial evaluation of the performances of point-of-care tests for screening G6PD deficiency in Cambodia.

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    Arantxa Roca-Feltrer

    Full Text Available User-friendly, accurate, point-of-care rapid tests to detect glucose-6-phosphate dehydrogenase deficiency (G6PDd are urgently needed at peripheral level to safely recommend primaquine for malaria elimination.The CareStart G6PD RDT (AccessBio, New Jersey, USA, a novel rapid diagnostic test and the most commonly used test, the fluorescent spot test (FST were assessed against the quantitatively measured G6PD enzyme activity for detecting G6PDd. Subjects were healthy males and non-pregnant females aged 18 years or older residing in six villages in Pailin Province, western Cambodia.Of the 938 subjects recruited, 74 (7.9% were severe and moderately severe G6PD deficient (enzyme activity <30%, mostly in male population; population median G6PD activity was 12.0 UI/g Hb. The performances of the CareStart G6PD RDT and the FST, according to different cut-off values used to define G6PDd were very similar. For the detection of severe and moderately severe G6PDd (enzyme activity < 30%, < 3.6 UI/g Hb in males and females, sensitivity and negative (normal status predictive value were 100% for both point-of-care tools. When the G6PDd cut-off value increased (from < 40% to < 60%, the sensitivity for both PoCs decreased: 93.3% to 71.7% (CareStart G6PD RDT, p = 10(-6 and 95.5% to 73.2% (FST, p = 10(-6 while the specificity for both PoCs remained similar: 97.4% to 98.3% (CareStart G6PD RDT, p = 0.23 and 98.7% to 99.6% (FST, p = 0.06. The cut-off values for classifying individuals as normal were 4.0 UI/g Hb and 4.3 UI/g Hb for the CareStart G6PD RDT and the FST, respectively.The CareStart G6PD RDT reliably detected moderate and severe G6PD deficient individuals (enzyme activity <30%, suggesting that this novel point-of-care is a promising tool for tailoring appropriate primaquine treatment for malaria elimination by excluding individuals with severe G6PDd for primaquine treatment.

  18. Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka

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    Kapilananda, G. M. G.; Samarakoon, Dilhani; Maddevithana, Sashika; Wijesundera, Sulochana; Goonaratne, Lallindra V.; Karunaweera, Nadira D.

    2017-01-01

    Glucose-6-Phosphate Dehydrogenase (G6PD) enzyme deficiency is known to offer protection against malaria and an increased selection of mutant genes in malaria endemic regions is expected. However, anti-malarial drugs such as primaquine can cause haemolytic anaemia in persons with G6PD deficiency. We studied the extent of G6PD deficiency in selected persons attending Teaching Hospitals of Anuradhapura and Kurunegala, two previously high malaria endemic districts in Sri Lanka. A total of 2059 filter-paper blood spots collected between November 2013 and June 2014 were analysed for phenotypic G6PD deficiency using the modified WST-8/1-methoxy PMS method. Each assay was conducted with a set of controls and the colour development assessed visually as well as with a microplate reader at OD450-630nm. Overall, 142/1018 (13.95%) and 83/1041 (7.97%) were G6PD deficient in Anuradhapura and Kurunegala districts respectively. The G6PD prevalence was significantly greater in Anuradhapura when compared to Kurunegala (P0.05). Severe deficiency (<10% normal) was seen among 28/1018 (2.75%) in Anuradhapura (7 males; 21 females) and 17/1041 (1.63%) in Kurunegala (7 males; 10 females). Enzyme activity between 10–30% was observed among 114/1018 (11.20%; 28 males; 86 females) in Anuradhapura while it was 66/1041 (6.34%; 18 males; 48 females) in Kurunegala. Screening and educational programmes for G6PD deficiency are warranted in these high risk areas irrespective of gender for the prevention of disease states related to this condition. PMID:28152025

  19. G6PD haplotypes spanning Xq28 from F8C to red/green color vision

    Energy Technology Data Exchange (ETDEWEB)

    Filosa, S.; Lania, G.; Martini, G. (Instituto Internazionale di Genetica e Biofisica, Naples (Italy)); Brancati, C.; Tagarelli, A. (Instituto per lo Studio delle Malattie Ereditarie e Carenziali, Cosenza (Italy)); Calabro, V. (Instituto per lo Studio delle Malattie Ereditarie e Carenziali, Cosenza (Italy) Hammersmith Hospital, London (United Kingdom)); Vulliamy, T.J.; Luzzatto, L. (Hammersmith Hospital, London (United Kingdom))

    1993-07-01

    The most telomeric region of the human X chromosome within band Xq28 consists of a gene-rich region of about 3 Mb which contains the genes for coagulation factor VIIIc, glucose-6-phosphate dehydrogenase (G6PD), and red/green color vision. The authors have studied five polymorphic sites from this region, in a sample of normal people from the Cosenza province of Southern Italy. These sites, which span a distance of some 350 kb, are in strong linkage disequilibrium. Of the 32 possible haplotypes only 10 were found, and 4 of these account for 80% of all X chromosomes analyzed. In addition, they found that all G6PD-deficient people with the G6PD Mediterranean mutation belong to only two haplotypes. One of these (Med 1) is found only within a small subregion of the area investigated, west of the Appennine mountain range. Most remarkably, all Med 1 G6PD-deficient individuals also had red/green color blindness. The more frequent haplotype (Med 2) is the same in Calabria and in Sardinia, where it accounts for about 90% of the G6PD Mediterranean mutations, despite the fact that gene flow between the populations of Sardinia and Southern Italy must have been limited. These data do not enable determination of whether the two types of G6PD Mediterranean have arisen through two separate identical mutational events or through a single mutational event followed by recombination. However, the data indicate relatively little recombination over an extended region of the X chromosome and they suggest that the G6PD Mediterranean mutation is recent by comparison to the other polymorphisms investigated. 44 refs., 4 figs., 5 tabs.

  20. Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira G-6-PD deficiency in a Brazilian community: an investigation involving epidemiological genetics and molecular techniques

    Directory of Open Access Journals (Sweden)

    Mariane B. Compri

    2000-06-01

    Full Text Available Este trabalho teve por objetivo estudar a deficiência de G-6-PD em uma comunidade do interior do Estado de São Paulo (Bragança Paulista. Durante 36 meses foram selecionados 4.621 doadores de sangue do sexo masculino, detectando-se 80 deficientes em G-6-PD. A análise molecular foi realizada em 70 deficientes não consangüíneos mediante a amplificação de DNA por PCR seguida de digestão por enzimas de restrição e análise de polimorfismo de conformação em hélice simples (SSCP. Em 98,6% dos casos, foi identificada a mutação G-6-PD A- (202 G->A, por digestão do exon 4 com Nla III. Verificou-se a presença de mutação mais rara no exon 9, por SSCP. Não foi constatado caso da variante Mediterrânea. Tais resultados mostraram que a variante A- (202 G->A, quase que exclusiva, foi introduzida na comunidade não apenas por descendentes de africanos, como também pelos imigrantes italianos, espanhóis e portugueses. A contribuição italiana em termos da variante Mediterrânea de G-6-PD foi menor do que a sua participação em termos de talassemia beta, provavelmente devido à origem no Norte da Itália.This paper reports on a study of the G-6-PD deficiency in Bragança Paulista, São Paulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period. Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes and single strand conformation polymorphism analysis (SSCP. In 98.6%, the G-6-PD A- (202 G->A mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommon mutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant was observed. These results indicate that the A- (202G->A variant, almost exclusive, was introduced into the community not only by individuals of African origin, but also by European immigrants, mainly Italian

  1. Correlation of G6PD activity and thalassemia%G6PD活性与地中海贫血的相关性研究

    Institute of Scientific and Technical Information of China (English)

    黄佐荣; 苏国生

    2014-01-01

    Objective To investigate the G6PD activity correlated with thalassemia. Methods automatic biochemical analyzer patients with G6PD activity on quantitative analysis, thalassemia screening using automated hemoglobin electrophoresis analysis system, and abnormal results of patient samples for genotyping confirmed.Results 3626 cases studied, there are 652 cases of G6PD activity increased, and G6PD activity in patients with elevated hemoglobin electrophoresis test results significantly improve the chances of abnormalities, confirmed by genotyping, mild positive rate of α-thalassemia to 25.92%, light β thalassemia positive rate was 34.97%, heavy β thalassemia positive rate was 1.53%, thalassemia positive rate was 62.42% of the total, with normal G6PD activity thalassemia total positive rate comparison, χ2= 817.42, P=0.0008, a statistical y significant difference. Conclusion G6PD activity is higher, the greater the risk the chance of thalassemia, G6PD activity in patients considered for screening, clinical diagnosis can help thalassemia.%目的:探讨G6PD活性与地中海贫血的相关性。方法采用全自动生化仪对患者进行G6PD活性定量分析,用全自动血红蛋白分析系统进行地中海贫血筛查,并对异常结果患者标本进行基因分型确诊。结果在3626例研究对象中,有652例G6P D活性升高,而G6P D活性升高的患者血红蛋白电泳检测结果异常的几率明显提高,经基因分型确证,轻度α地中海贫血阳性检出率为25.92%,轻型β地中海贫血阳性检出率为34.97%,重型β地中海贫血阳性检出率为1.53%,地中海贫血总阳性检出率为62.42%,与G6PD活性正常组地中海贫血总阳性检出率比较,χ2=817.42,P=0.0008,差异具有统计学意义。结论 G6PD活性越高,患地中海贫血的几率越大,认为对患者进行G6PD活性筛查,可有助于地中海贫血的临床诊断。

  2. Aspectos laboratoriais do diagnóstico da deficiência de glicose-6-fosfato desidrogenase (G6PD)

    OpenAIRE

    Simone Martins Castro

    2006-01-01

    A G6PD é expressa em todos os tecidos, onde catalisa a primeira etapa da via das pentoses-fosfato. O NADPH produzido pela ação da G6PD serve como doador de elétrons na biossíntese redutora. Pelo fato de os glóbulos vermelhos não terem mitocôndria, a via das pentoses-fosfato é a única fonte de NADPH e essencial para sua proteção contra o stress oxidativo. A deficiência da G6PD é classificada como anemia hemolítica hereditária ligada ao cromossomo X, associada a manifestações clínicas heterogên...

  3. G6PD deficiency in Latin America: systematic review on prevalence and variants

    Science.gov (United States)

    Monteiro, Wuelton M; Val, Fernando FA; Siqueira, André M; Franca, Gabriel P; Sampaio, Vanderson S; Melo, Gisely C; Almeida, Anne CG; Brito, Marcelo AM; Peixoto, Henry M; Fuller, Douglas; Bassat, Quique; Romero, Gustavo AS; Maria Regina F, Oliveira; Marcus Vinícius G, Lacerda

    2014-01-01

    Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that induces haemolysis in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals, which further hampers malaria control efforts. The aim of this work was to study the G6PDd prevalence and variants in Latin America (LA) and the Caribbean region. A systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Low prevalence rates of G6PDd were documented in Argentina, Bolivia, Mexico, Peru and Uruguay, but studies from Curaçao, Ecuador, Jamaica, Saint Lucia, Suriname and Trinidad, as well as some surveys carried out in areas of Brazil, Colombia and Cuba, have shown a high prevalence (> 10%) of G6PDd. The G6PD A-202A mutation was the variant most broadly distributed across LA and was identified in 81.1% of the deficient individuals surveyed. G6PDd is a frequent phenomenon in LA, although certain Amerindian populations may not be affected, suggesting that PQ could be safely used in these specific populations. Population-wide use of PQ as part of malaria elimination strategies in LA cannot be supported unless a rapid, accurate and field-deployable G6PDd diagnostic test is made available. PMID:25141282

  4. G6PD deficiency in Latin America: systematic review on prevalence and variants

    Directory of Open Access Journals (Sweden)

    Wuelton M Monteiro

    2014-08-01

    Full Text Available Plasmodium vivax radical cure requires the use of primaquine (PQ, a drug that induces haemolysis in glucose-6-phosphate dehydrogenase deficient (G6PDd individuals, which further hampers malaria control efforts. The aim of this work was to study the G6PDd prevalence and variants in Latin America (LA and the Caribbean region. A systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Low prevalence rates of G6PDd were documented in Argentina, Bolivia, Mexico, Peru and Uruguay, but studies from Curaçao, Ecuador, Jamaica, Saint Lucia, Suriname and Trinidad, as well as some surveys carried out in areas of Brazil, Colombia and Cuba, have shown a high prevalence (> 10% of G6PDd. The G6PD A-202A mutation was the variant most broadly distributed across LA and was identified in 81.1% of the deficient individuals surveyed. G6PDd is a frequent phenomenon in LA, although certain Amerindian populations may not be affected, suggesting that PQ could be safely used in these specific populations. Population-wide use of PQ as part of malaria elimination strategies in LA cannot be supported unless a rapid, accurate and field-deployable G6PDd diagnostic test is made available.

  5. A Comparison of Three Quantitative Methods to Estimate G6PD Activity in the Chittagong Hill Tracts, Bangladesh

    Science.gov (United States)

    Ley, Benedikt; Alam, Mohammad Shafiul; O’Donnell, James J.; Hossain, Mohammad Sharif; Kibria, Mohammad Golam; Jahan, Nusrat; Khan, Wasif A.; Thriemer, Kamala; Chatfield, Mark D.; Price, Ric N.; Richards, Jack S.

    2017-01-01

    Background Glucose-6-phosphate-dehydrogenase-deficiency (G6PDd) is a major risk factor for primaquine-induced haemolysis. There is a need for improved point-of-care and laboratory-based G6PD diagnostics to unsure safe use of primaquine. Methods G6PD activities of participants in a cross-sectional survey in Bangladesh were assessed using two novel quantitative assays, the modified WST-8 test and the CareStart™ G6PD Biosensor (Access Bio), The results were compared with a gold standard UV spectrophotometry assay (Randox). The handheld CareStart™ Hb instrument (Access Bio) is designed to be a companion instrument to the CareStart™ G6PD biosensor, and its performance was compared to the well-validated HemoCue™ method. All quantitative G6PD results were normalized with the HemoCue™ result. Results A total of 1002 individuals were enrolled. The adjusted male median (AMM) derived by spectrophotometry was 7.03 U/g Hb (interquartile range (IQR): 5.38–8.69), by WST-8 was 7.03 U/g Hb (IQR: 5.22–8.16) and by Biosensor was 8.61 U/g Hb (IQR: 6.71–10.08). The AMM between spectrophotometry and WST-8 did not differ (p = 1.0) but differed significantly between spectrophotometry and Biosensor (p0.05). Sensitivity and specificity for detecting G6PD activity <30% was 0.55 (95% confidence interval (95%CI): 0.44–0.66) and 0.98 (95%CI: 0.97–0.99) respectively for the WST-8 and 0.19 (95%CI: 0.12–0.29) and 0.99 (95%CI: 0.98–0.99) respectively for the Biosensor. Hb concentrations measured by HemoCue™ and CareStart™ Hb were strongly correlated (rs = 0.8, p<0.001, mean difference = 0.09 g Hb/dL, 95% LoA: -2.15 to 2.34). Conclusion WST-8 and the CareStart™ G6PD Biosensor represent advances in G6PD diagnostics in resource poor settings, but will require further development before clinical deployment. The CareStart™ Hb instrument produced a precise measure of haemoglobin concentration. PMID:28121993

  6. Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD-null): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress.

    NARCIS (Netherlands)

    P.P. Pandolfi; F. Sonati; R. Rivi; P. Mason; F.G. Grosveld (Frank); L. Luzzatto

    1995-01-01

    textabstractGlucose 6-phosphate dehydrogenase (G6PD) is a housekeeping enzyme encoded in mammals by an X-linked gene. It has important functions in intermediary metabolism because it catalyzes the first step in the pentose phosphate pathway and provides reductive potential in the form of NADPH. In h

  7. Nine Different Glucose-6-phosphate Dehydrogenase (G6PD Variants in a Malaysian Population with Malay, Chinese, Indian and Orang Asli (Aboriginal Malaysian Backgrounds

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    Isa,Zaleha Mohamed

    2008-10-01

    Full Text Available The Malaysian people consist of several ethnic groups including the Malay, the Chinese, the Indian and the Orang Asli (aboriginal Malaysians. We collected blood samples from outpatients of 2 hospitals in the State of Selangor and identified 27 glucose-6-phosphate dehydrogenase (G6PD-deficient subjects among these ethnic groups. In the Malay, G6PD Viangchan (871G>A, 1311C>T, IVS11 nt93T>C and G6PD Mahidol (487G>A types, which are common in Cambodia and Myanmar, respectively, were detected. The Malay also had both subtypes of G6PD Mediterranean:the Mediterranean subtype (563C>T, 1311C>T, IVS11 nt93T>C and the Indo-Pakistan subtype (563C>T, 1311C, IVS11 nt93T. In Malaysians of Chinese background, G6PD Kaiping (1388G>A, G6PD Canton (1376G>T and G6PD Gaohe (95A>G, which are common in China, were detected. Indian Malaysians possessed G6PD Mediterranean (Indo-Pakistan subtype and G6PD Namoru (208T>C, a few cases of which had been reported in Vanuatu and many in India. Our findings indicate that G6PD Namoru occurs in India and flows to Malaysia up to Vanuatu. We also discovered 5 G6PD-deficient cases with 2 nucleotide substitutions of 1311C>T and IVS11 nt93T>C, but without amino-acid substitution in the G6PD molecule. These results indicate that the Malaysian people have incorporated many ancestors in terms of G6PD variants.

  8. Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28

    Energy Technology Data Exchange (ETDEWEB)

    Gorlin, J.B. (Brigham and Women' s Hospital, Boston, MA (United States) Dana-Farber Cancer Institute, Boston, MA (United States)); Henske, E.; Hartwig, J.H.; Kwiatkowski, D.J. (Brigham and Women' s Hospital, Boston, MA (United States)); Warren, S.T.; Kunst, C.B. (Emory Univ. School of Medicine, Atlanta, GA (United States)); D' Urso, M.; Palmieri, G. (International Institute of Genetics and Biophysics, Naples, (Italy)); Bruns, G. (Children' s Hospital, Boston, MA (United States))

    1993-08-01

    Actin-binding protein-280 (ABP-280) is a dimeric actin filament-crosslinking protein that promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. The authors have mapped the ABP-280 filamin gene (FLN) to Xq28 by Southern blot analysis of somatic cell hybrid lines, by fluorescence in situ hybridization, and through identification of portions of the FLN gene within cosmids and YACs mapped to Xq28. The FLN gene is found within a 200-kb region centromeric to the G6PD locus and telomeric to DSX52 and the color vision locus. 23 refs., 2 figs.

  9. Influence of dehydroepiandrosterone on G-6-PD activity and /sup 3/H-thymidine uptake of human lymphocytes in vitro

    Energy Technology Data Exchange (ETDEWEB)

    Ennas, M.G.; Laconi, S.; Dessi, S.; Milia, G.; Murru, M.R.; Manconi, P.E.

    1987-01-01

    Dehydroepiandrosterone (DHEA) was found to inhibit experimental cancer development in mouse and rat lung, colon and mammary gland. Since DHEA is a potent inhibitor of mammalian G-6-PD, the hypothesis that the compound could inhibit cell proliferation through an inhibition of the pentose phosphate pathway has been formulated. We studied the effects of DHEA on the proliferation in vitro of human lymphocytes induced by several mitogens (PHA, ConA and PWM), measuring /sup 3/H-thymidine uptake. DHEA inhibited /sup 3/H-thymidine uptake of mitogen-stimulated cells from both G-6-PD+ and G-6-PD- (mediterranean type deficiency) individuals in a dose-dependent and reversible fashion. The inhibitory effect was found even if DHEA was added to cells in the last hours of culture, simultaneously with the addition of /sup 3/H-thymidine. These data suggest that the inhibition of thymidine uptake induced by DHEA on human lymphocytes probably does not depend on the inhibition of G-6-PD.

  10. Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.

    Science.gov (United States)

    Sirdah, Mahmoud M; Shubair, Mohammad E; Al-Kahlout, Mustafa S; Al-Tayeb, Jamal M; Prchal, Josef T; Reading, N Scott

    2017-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked inherited enzymopathic disorder affecting more than 500 million people worldwide. It has so far been linked to 217 distinct genetic variants in the exons and exon-intron boundaries of the G6PD gene, giving rise to a wide range of biochemical heterogeneity and clinical manifestations. Reports from different settings suggested the association of intronic and other mutations outside the reading frame of the G6PD gene with reduced enzyme activity and presenting clinical symptoms. The present study aimed to investigate any association of other variations apart of the exonic or exonic intronic boundaries in the development of G6PD deficiency. Sixty-seven unrelated Palestinian children admitted to the pediatric hospital with hemolytic crises due to G6PD deficiency were studied. In our Palestinian cohort of 67 [59 males (M) and 8 females (F)] G6PD-deficient children, previously hospitalized for acute hemolytic anemia due to favism, molecular sequencing of the G6PD gene revealed four cases (3M and 1F) that did not have any of the variants known to cause G6PD deficiency, but the 3' UTR c.*+357A>G (rs1050757) polymorphism in association with IVS 11 (c.1365-13T>C; rs2071429), and c.1311C>T (rs2230037). We now provide an additional evidence form Palestinian G6PD-deficient subjects for a possible role of 3' UTR c.*+357 A>G, c.1365-13T>C, and/or c.1311C>T polymorphism for G6PD deficiency, suggesting that not only a single variation in the exonic or exonic intronic boundaries, but also a haplotype of G6PD should considered as a cause for G6PD deficiency.

  11. Survey of the Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD Deficiency in Admitted Men for Premarriage Tests in Zahedan-Iran Reference Laboratory

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    Nakhaee Ali Reza

    2009-09-01

    Full Text Available Background: GLucose-6-phosphate dehydrogenase (G6PD deficiency is the most common known enzymopathy in human. G6PD deficiency is usually asymptomatic, however, deficient individuals are at increased risk of developing acute hemolytic anemia and hyperbilirubinemia following intake of oxidative agents and fava. The objective of present study was to detect prevalence of G6PD deficiency in admitted males for premarriage tests in Zahedan Reference Laboratory. Also, we compared blood indices of normal and G6PD deficient individuals.Materials and Methods: This descriptive study was carried out on 1340 admitted males in Zahedan Reference Laboratory from February 2008 to March 2009. G6PD activity was determined in EDTA containing blood samples by qualitative fluorescence spot test, then G6PD deficiency was confirmed by quantitative spectrophotometric method. Total leukocyte count and RBC indices of G6PD deficient samples and the same number of normal samples were compared. The differences between two groups were compared using Sigmaplot software and t-Student test. A P-value less than 0.05 was considered statistically significant.Results: G6PD deficiency was found in 84 individuals of total 1340 by fluorescence spot test and confirmed in 79 by quantitative method. Therefore, prevalence of G6PD deficiency in Zahedan was estimated to be 5.9%. Comparison of deficient and normal individuals did not show significant difference in WBC count, RBC count, hemoglobin concentration, hematocrit, mean corpuscular hemoglobin (MCH and RDW-SD. However, mean corpuscular volume (MCV was significantly high and mean corpuscular hemoglobin concentration (MCHC and RDW-CV were significantly low in G6PD deficient individuals compared to those with normal enzyme level.Discussion: Present study revealed that the prevalence of G6PD deficiency in Zahedan is 5.9%. Severity of G6PD deficiency in quantitative assay indicated that class I and II are probably dominant variants in

  12. First evaluation of glucose-6-phosphate dehydrogenase (G6PD deficiency in vivax malaria endemic regions in the Republic of Korea.

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    Youn-Kyoung Goo

    Full Text Available BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common human enzyme defect and affects more than 400 million people worldwide. This deficiency is believed to protect against malaria because its global distribution is similar. However, this genetic disorder may be associated with potential hemolytic anemia after treatment with anti-malarials, primaquine or other 8-aminoquinolines. Although primaquine is used for malaria prevention, no study has previously investigated the prevalence of G6PD variants and G6PD deficiency in the Republic of Korea (ROK. METHODS: Two commercialized test kits (Trinity G-6-PDH and CareStart G6PD test were used for G6PD deficiency screening. The seven common G6PD variants were investigated by DiaPlexC kit in blood samples obtained living in vivax malaria endemic regions in the ROK. RESULTS: Of 1,044 blood samples tested using the CareStart G6PD test, none were positive for G6PD deficiency. However, a slightly elevated level of G6PD activity was observed in 14 of 1,031 samples tested with the Trinity G-6-PDH test. Forty-nine of the 298 samples with non-specific amplification by DiaPlexC kit were confirmed by sequencing to be negative for the G6PD variants. CONCLUSIONS: No G6PD deficiency was observed using phenotypic- or genetic-based tests in individuals residing in vivax malaria endemic regions in the ROK. Because massive chemoprophylaxis using primaquine has been performed in the ROK military to kill hypnozoites responsible for relapse and latent stage vivax malaria, further regular monitoring is essential for the safe administration of primaquine.

  13. Dissimilar Deficiency of Glucose-6-Phosphate Dehydrogenase (G-6-PD) among the AFARS and the Somalis of Djibouti

    Science.gov (United States)

    1991-01-01

    directly related to the type ot variant Plus de 200 variantes de la moliculc G-6-PD present. ont it dicrites i ce jour, (1) Medical Research Assistant...Research Associate, International Health Program, School of Medicine, University of Maryland. Baltimore. MEDECINE TROPICALE - Volume 51 - IN’ 2 - Avni - Juin...hemolytiques severes qui semblent relativementfriquentes i Djibouti chez les malades awc himaties parasities accis palustres (MIARY, Uniti de Soins Intensifs

  14. Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Ouest and Sud-Est departments of Haiti.

    Science.gov (United States)

    von Fricken, Michael E; Weppelmann, Thomas A; Eaton, Will T; Alam, Meer T; Carter, Tamar E; Schick, Laura; Masse, Roseline; Romain, Jean R; Okech, Bernard A

    2014-07-01

    Malaria remains a significant public health issue in Haiti, with chloroquine (CQ) used almost exclusively for the treatment of uncomplicated infections. Recently, single dose primaquine (PQ) was added to the Haitian national malaria treatment policy, despite a lack of information on the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency within the population. G6PD deficient individuals who take PQ are at risk of developing drug induced hemolysis (DIH). In this first study to examine G6PD deficiency rates in Haiti, 22.8% (range 14.9%-24.7%) of participants were found to be G6PD deficient (class I, II, or III) with 2.0% (16/800) of participants having severe deficiency (class I and II). Differences in deficiency were observed by gender, with males having a much higher prevalence of severe deficiency (4.3% vs. 0.4%) compared to females. Male participants were 1.6 times more likely to be classified as deficient and 10.6 times more likely to be classified as severely deficient compared to females, as expected. Finally, 10.6% (85/800) of the participants were considered to be at risk for DIH. Males also had much higher rates than females (19.3% vs. 4.6%) with 4.9 times greater likelihood (p value 0.000) of having an activity level that could lead to DIH. These findings provide useful information to policymakers and clinicians who are responsible for the implementation of PQ to control and manage malaria in Haiti. Copyright © 2014 Elsevier B.V. All rights reserved.

  15. G6PD deficiency at Sumba in Eastern Indonesia is prevalent, diverse and severe: implications for primaquine therapy against relapsing Vivax malaria.

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    Ari Winasti Satyagraha

    2015-03-01

    Full Text Available Safe treatment of Plasmodium vivax requires diagnosis of both the infection and status of erythrocytic glucose-6-phosphate dehydrogenase (G6PD activity because hypnozoitocidal therapy against relapse requires primaquine, which causes a mild to severe acute hemolytic anemia in G6PD deficient patients. Many national malaria control programs recommend primaquine therapy without G6PD screening but with monitoring due to a broad lack of G6PD deficiency screening capacity. The degree of risk in doing so hinges upon the level of residual G6PD activity among the variants present in any given area. We conducted studies on Sumba Island in eastern Indonesia in order to assess the potential threat posed by primaquine therapy without G6PD screening. We sampled 2,033 residents of three separate districts in western Sumba for quantitative G6PD activity and 104 (5.1% were phenotypically deficient (<4.6U/gHb; median normal 10U/gHb. The villages were in two distinct ecosystems, coastal and inland. A positive correlation occurred between the prevalence of malaria and G6PD deficiency: 5.9% coastal versus inland 0.2% for malaria (P<0.001, and 6.7% and 3.1% for G6PD deficiency (P<0.001 at coastal and inland sites, respectively. The dominant genotypes of G6PD deficiency were Vanua Lava, Viangchan, and Chatham, accounting for 98.5% of the 70 samples genotyped. Subjects expressing the dominant genotypes all had less than 10% of normal enzyme activities and were thus considered severe variants. Blind administration of anti-relapse primaquine therapy at Sumba would likely impose risk of serious harm.

  16. Is GERD a Factor in Osteonecrosis of the Jaw? Evidence of Pathology Linked to G6PD Deficiency and Sulfomucins

    Science.gov (United States)

    Swanson, Nancy L.; Li, Chen

    2016-01-01

    Osteonecrosis of the jaw (ONJ), a rare side effect of bisphosphonate therapy, is a debilitating disorder with a poorly understood etiology. FDA's Adverse Event Reporting System (FAERS) provides the opportunity to investigate this disease. Our goals were to analyze FAERS data to discover possible relationships between ONJ and specific conditions and drugs and then to consult the scientific literature to deduce biological explanations. Our methodology revealed a very strong association between gastroesophageal reflux and bisphosphonate-induced ONJ, suggesting acidosis as a key factor. Overgrowth of acidophilic species, particularly Streptococcus mutans, in the oral microbiome in the context of insufficient acid buffering due to impaired salivary glands maintains the low pH that sustains damage to the mucosa. Significant associations between ONJ and adrenal insufficiency, vitamin C deficiency, and Sjögren's syndrome were found. Glucose 6 phosphate dehydrogenase (G6PD) deficiency can explain much of the pathology. An inability to maintain vitamin C and other antioxidants in the reduced form leads to vascular oxidative damage and impaired adrenal function. Thus, pathogen-induced acidosis, hypoxia, and insufficient antioxidant defenses together induce ONJ. G6PD deficiency and adrenal insufficiency are underlying factors. Impaired supply of adrenal-derived sulfated sterols such as DHEA sulfate may drive the disease process.

  17. Is GERD a Factor in Osteonecrosis of the Jaw? Evidence of Pathology Linked to G6PD Deficiency and Sulfomucins

    Directory of Open Access Journals (Sweden)

    Stephanie Seneff

    2016-01-01

    Full Text Available Osteonecrosis of the jaw (ONJ, a rare side effect of bisphosphonate therapy, is a debilitating disorder with a poorly understood etiology. FDA’s Adverse Event Reporting System (FAERS provides the opportunity to investigate this disease. Our goals were to analyze FAERS data to discover possible relationships between ONJ and specific conditions and drugs and then to consult the scientific literature to deduce biological explanations. Our methodology revealed a very strong association between gastroesophageal reflux and bisphosphonate-induced ONJ, suggesting acidosis as a key factor. Overgrowth of acidophilic species, particularly Streptococcus mutans, in the oral microbiome in the context of insufficient acid buffering due to impaired salivary glands maintains the low pH that sustains damage to the mucosa. Significant associations between ONJ and adrenal insufficiency, vitamin C deficiency, and Sjögren’s syndrome were found. Glucose 6 phosphate dehydrogenase (G6PD deficiency can explain much of the pathology. An inability to maintain vitamin C and other antioxidants in the reduced form leads to vascular oxidative damage and impaired adrenal function. Thus, pathogen-induced acidosis, hypoxia, and insufficient antioxidant defenses together induce ONJ. G6PD deficiency and adrenal insufficiency are underlying factors. Impaired supply of adrenal-derived sulfated sterols such as DHEA sulfate may drive the disease process.

  18. A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man

    Institute of Scientific and Technical Information of China (English)

    任晓琴; 杜传书; 蒋玮莹; 陈路明; 林群娣; 何永蜀

    2001-01-01

    目的对中国云南省29例G6PD缺乏症患者检查新的基因突变型。 方法用NBT法作G6PD缺乏症筛查、SSCP、ACRS和DNA测序鉴定突变。结果29例中发现G1388A18例、C1004A1例、G1381A1例,另外9例未定型。其中1381突变为新的错义 突变。这一突变导致G6PD丙氨酸被苏氨酸置换(A461T),并导致一天然StuI酶切位点的消失,此特点可 用于该突变的鉴定。 结论我们发现一新的错义突变。此突变导致丙氨酸被苏氨酸置换(A461T),且此突变对酶活性降低是 重要的。%Objective To detect new mutations among 29 glucose-6-phosphatedehydrogenase (G6PD) deficient individuals from Yunnan province. Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. Conclusion A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation.

  19. Performance of the CareStart™ G6PD Deficiency Screening Test, a Point-of-Care Diagnostic for Primaquine Therapy Screening

    Science.gov (United States)

    Kim, Saorin; Nguon, Chea; Guillard, Bertrand; Duong, Socheat; Chy, Sophy; Sum, Sarorn; Nhem, Sina; Bouchier, Christiane; Tichit, Magali; Christophel, Eva; Taylor, Walter R. J.; Baird, John Kevin; Menard, Didier

    2011-01-01

    Development of reliable, easy-to-use, rapid diagnostic tests (RDTs) to detect glucose-6-phosphate dehydrogenase (G6PD) deficiency at point of care is essential to deploying primaquine therapies as part of malaria elimination strategies. We assessed a kit under research and development called CareStart™ G6PD deficiency screening test (Access Bio, New Jersey, USA) by comparing its performance to quantitative G6PD enzyme activity using a standardized spectrophotometric method (‘gold standard’). Blood samples (n = 903) were collected from Cambodian adults living in Pailin province, western Cambodia. G6PD enzyme activities ranged from 0 to 20.5 U/g Hb (median 12.0 U/g Hg). Based on a normal haemoglobin concentration and wild-type G6PD gene, the normal values of G6PD enzymatic activity for this population was 3.6 to 20.5 U/g Hg (95th percentiles from 5.5 to 17.2 U/g Hg). Ninety-seven subjects (10.7%) had <3.6 U/g Hg and were classified as G6PD deficient. Prevalence of deficiency was 15.0% (64/425) among men and 6.9% (33/478) among women. Genotype was analyzed in 66 G6PD-deficient subjects and 63 of these exhibited findings consistent with Viangchang genotype. The sensitivity and specificity of the CareStart™ G6PD deficiency screening test was 0.68 and 1.0, respectively. Its detection threshold was <2.7 U/g Hg, well within the range of moderate and severe enzyme deficiencies. Thirteen subjects (1.4%, 12 males and 1 female) with G6PD enzyme activities <2 U/g Hg were falsely classified as “normal” by RDT. This experimental RDT test here evaluated outside of the laboratory for the first time shows real promise, but safe application of it will require lower rates of falsely “normal” results. PMID:22164279

  20. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene%海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症 的基因突变型分析及一种新的G6PD 基因突变型的鉴定

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    目的阐明海南汉族、黎族人群中葡萄糖-6-磷酸脱氢酶缺乏症的分子基础。方法用聚合酶链反应、限制性内切酶消化筛查了1388G→A、1360C→T、1024C→T、592C→T、517T→C、493A→G、487G→A、392G→T和95A→G突变;用单链构象多态性分析筛查其它突变;用核苷酸顺序分析鉴定具有SSCP异常区带样品的突变。结果在59例汉族G6PD缺乏症患者中,发现1388G→A 14例(23.7%)、871G→A 3例(5.1%)、835A→T 1例(1.7%)、517T→C 1例(1.7%)、392G→T 3例(5.1%)和95A→G 4例(6.8%);在32例黎族G6PD缺乏症患者中,发现1388G→A 6例(18.8%)、871G→A 3例(9.4%)和95A→G2例(6.3%);在1例汉族患者中发现了一种新的G6PD基因突变——835A→G突变,此突变导致第279位的苏氨酸被丙氨酸取代,将此突变型命名为G6PD-海口,其酶活性约是正常的10%,比835A→T突变的活性低,后者的酶活性约是正常的40%。分析人G6PD的三维结构模型表明,第279位苏氨酸残基的羟基是维持G6PD亚基相互作用的基团。结论海南汉族、黎族人群中具有共同的常见G6PD基因突变型;与中国其它地区人群的G6PD基因突变谱比较,结果表明某些G6PD基因突变广泛分布于中国南方不同地区人群中;G6PD第279位苏氨酸残基的羟基可能是维持G6PD亚基相互作用及酶活性的必需基团。%Objective  To elucidate the molecular basis of G6PD deficiency in the Han and Li nationalities in Hainan, China. Methods  Polymerase chain reaction and restriction enzyme digestion were used to screen the mutations 1388G→A, 1360C→T, 1024C→T, 592C→T,517T→C, 493A→G,487G→A,392G→T and 95A→G. Single strand conformation polymorphism analysis was used to screen the other mutations followed by DNA sequencing to characterize the mutations of the samples with abnormal SSCP bands. Results  Of the fifty-nine Han cases with G6PD deficiency, fourteen with 1388G→A(23

  1. Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-PD Betica Selma and Santamaria in People with Symptomatic Malaria in Ouagadougou

    Science.gov (United States)

    Ouattara, Abdoul Karim; Yameogo, Pouiré; Diarra, Birama; Obiri-Yeboah, Dorcas; Yonli, Albert; Compaore, Tegwindé Rebeca; Soubeiga, Serge Théophile; Djigma, Florencia Wenkuuni; Simpore, Jacques

    2016-01-01

    The G-6-PD deficiency has an important polymorphism with genotypic variants such as 202A/376G, 376G/542T and 376G/968T known in West African populations. It would confer protection against severe forms of malaria although there are differences between the various associations in different studies. In this study we genotyped six (06) variants of the G-6-PD gene in people with symptomatic malaria in urban areas in Burkina Faso. One hundred and eighty-two (182) patients who tested positive using rapid detection test and microscopy were included in this study. A regular PCR with the GENESPARK G6PD African kit was run followed by electrophoresis, allowing initially to genotype six SNPs (G202A, A376G, A542T, G680T, C563T and T968C). Women carrying the mutations 202A and/or 376G were further typed by real-time PCR using TaqMan probes rs1050828 and rs1050829. In the study population the G-6-PD deficiency prevalence was 9.9%. In addition of G-6-PD A- (202A/376G) variant, 376G/542T and 376G/968T variants were also detected. Hemoglobin electrophoresis revealed that 22.5% (41/182) of the individuals had HbAC compared with2.2% with HbAS and one individual had double heterozygous HbSC. There was no correlation between the G-6-PD deficiency or haemoglobinopathies and symptomatic malaria infections in this study. Our study confirms that the G-6-PD deficiency does not confer protection against Plasmodium falciparum infections. As opposed to previous genotyping studies carried out in Burkina Faso, this study shows for the first time the presence of the variant A- (376G/968C) and warrants further investigation at the national level and in specific ethnic groups. PMID:27413522

  2. Glucose-6-phosphate dehydrogenase(G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso

    Institute of Scientific and Technical Information of China (English)

    Abdoul; Karim; Ouattara; Cyrille; Bisseye; Bapio; Valery; Jean; Télesphore; Elvira; Bazie; Birama; Diarra; Tegwindé; Rebeca; Compaore; Florencia; Djigma; Virginio; Pietra; Remy; Moret; Jacques; Simpore

    2014-01-01

    Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals in a rural community were genotyped for the mutations A376 G.G202A,A542 T,G680T and T968 C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism.Results:The prevalence of the G6 PD deficiency was 9.5%,in the study population.It was significantly higher in men compared to women(14.23%vs 6.0%,P=0.049).The 202A/376 G G6PD Awas the only deficient variant detected.Plasmodium falciparum asymptomatic parasitemia was significantly higher among the C6PD-non—deficient persons compared to the G6PD-deficient(P<0.001).The asymptomatic parasitemia was also significantly higher among G(SPI) nondeficient compared to C6PD—heterozygous females(P<0.001).Conclusions:This study showed that the G6 PD A- variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.

  3. The use of primaquine in malaria infected patients with red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency in Myanmar.

    Science.gov (United States)

    Myat-Phone-Kyaw; Myint-Oo; Aung-Naing; Aye-Lwin-Htwe

    1994-12-01

    32 subjects with Plasmodium falciparum gametocytes, and 31 cases with Plasmodium vivax infection from two military hospitals (Lashio, Mandalay) were treated with quinine 600 mg three times a day for 7 days followed by primaquine 45 mg single dose for gametocytes and 45 mg weekly x 8 weeks for vivax malaria. Although screening of red cell glucose-6-phosphate dehydrogenase (G6PD) was done prior to primaquine treatment, G6PD deficient subjects were not excluded from the trial. 20 patients hemizygous for mild G6PD deficiency (GdB- variant), 2 patients hemizygous for severe deficiency (Gd-Myanmar variant) completed the trial. No case of acute hemolysis was observed in all 22 patients with two genotypes of red cell G6PD deficiency status. Therefore, a single dose of primaquine 45 mg and/or weekly for 8 weeks is adequate for the treatment of patients with P. falciparum gametocytes and/or P. vivax malaria ignoring these red cell G6PD enzyme deficient variants in Myanmar.

  4. Diospyros lotus L. fruit extract protects G6PD-deficient erythrocytes from hemolytic injury in vitro and in vivo: prevention of favism disorder.

    Science.gov (United States)

    Azadbakht, M; Hosseinimehr, S J; Shokrzadeh, M; Habibi, E; Ahmadi, A

    2011-11-01

    The aim of this study was to evaluate the protective effect of Diospyros lotus L. fruit extract against the hemolytic damage induced by Vicia faba beans extract in both G6PD enzyme-deficient human and rat erythrocyte in vitro and in vivo. In the former model, venous blood samples were obtained from five subjects with known G6PD deficiency and erythrocyte hemolysis induced by Vicia faba L. bean extract was asessed spectrophotometrically in the presence and absence of Diospyros lotus L. fruits extract. In the in vivo model, G6PD-deficient rats (induced by intraperitoneal injection of dehydroepiandrosterone for 35 days) pre-treated with different doses of Diospyros lotus L. (500, 750, 1000, and 1500 mg/kg, p.o for 7 days) were challenged with Vicia faba beans extract and the protective effect of the fruit extract against hemolysis was evaluated as above. The results have shown that Diospyros lotus L. fruits extract has antioxidant activity that may protect against hemolytic damage induced by Vicia faba bean extract in both G6PD-deficient human and rat erythrocytes. The study gives a scientific basis for the efficacy of the fruit extract as used in Iran. The fact that this was shown in human erythrocytes in vitro is significant and provides a rationale for further testing in vivo in G6PD-deficient human populations.

  5. Haemolysis in G6PD Heterozygous Females Treated with Primaquine for Plasmodium vivax Malaria: A Nested Cohort in a Trial of Radical Curative Regimens

    Science.gov (United States)

    Win, Htun Htun; Thitipanawan, Niramon; Po, Christina; Chowwiwat, Nongnud; Raksapraidee, Rattanaporn; Wilairisak, Pornpimon; Keereecharoen, Lily; Proux, Stéphane

    2017-01-01

    Background Radical cure of Plasmodium vivax malaria with 8-aminoquinolines (primaquine or tafenoquine) is complicated by haemolysis in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD heterozygous females, because of individual variation in the pattern of X-chromosome inactivation (Lyonisation) in erythroid cells, may have low G6PD activity in the majority of their erythrocytes, yet are usually reported as G6PD “normal” by current phenotypic screening tests. Their haemolytic risk when treated with 8-aminoquinolines has not been well characterized. Methods and Findings In a cohort study nested within a randomised clinical trial that compared different treatment regimens for P. vivax malaria, patients with a normal standard NADPH fluorescent spot test result (≳30%–40% of normal G6PD activity) were randomised to receive 3 d of chloroquine or dihydroartemisinin-piperaquine in combination with primaquine, either the standard high dose of 0.5 mg base/kg/day for 14 d or a higher dose of 1 mg base/kg/d for 7 d. Patterns of haemolysis were compared between G6PD wild-type and G6PD heterozygous female participants. Between 21 February 2012 and 04 July 2014, 241 female participants were enrolled, of whom 34 were heterozygous for the G6PD Mahidol variant. Haemolysis was substantially greater and a larger proportion of participants reached the threshold of clinically significant haemolysis (fractional haematocrit reduction >25%) in G6PD heterozygotes taking the higher (7 d) primaquine dose (9/17 [53%]) compared with G6PD heterozygotes taking the standard high (14 d) dose (2/16 [13%]; p = 0.022). In heterozygotes, the mean fractional haematocrit reductions were correspondingly greater with the higher primaquine dose (7-d regimen): −20.4% (95% CI −26.0% to −14.8%) (nadir on day 5) compared with the standard high (14 d) dose: −13.1% (95% CI −17.6% to −8.6%) (nadir day 6). Two heterozygotes taking the higher (7 d) primaquine dose

  6. Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions.

    Science.gov (United States)

    Galatas, Beatriz; Mabote, Lurdes; Simone, Wilson; Matambisso, Gloria; Nhamussua, Lidia; Mañú-Pereira, María Del Mar; Menéndez, Clara; Saute, Francisco; Macete, Eusebio; Bassat, Quique; Alonso, Pedro; Aide, Pedro

    2017-01-19

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary enzymatic abnormality that affects more than 400 million people worldwide. Most deficient individuals do not manifest any symptoms; however, several precipitant agents-such as fava intake, infections, or several drugs-may trigger acute haemolytic anaemia. Countries should be informed of the prevalence of this enzymatic anomaly within their borders, in order to make safe and appropriate national decisions regarding the use of potentially unsafe drugs for G6PD deficient individuals. A school-based cross-sectional survey was conducted in three districts in Mozambique, namely Manhiça, located in the south; Mocuba in the centre; and Pemba in the northern tip of the country. G6PD deficiency was evaluated using the CareStart™ diagnostic test, and enzyme activity levels were measured through fluorescence spectrophotometry in deficient individuals. Chi squared and ANOVA tests were used to assess prevalence and mean enzyme activity differences, and logistic regression was used to identify risk factors associated to the deficiency. G6PD deficiency prevalence estimates were lowest in the northern city of Pemba (8.3%) and among Emakhuwas and Shimakondes, and higher in the centre and southern regions of the country (16.8 and 14.6%, respectively), particularly among Elomwes and Xichanganas. G6PD deficiency was significantly more prevalent among male students than females (OR = 1.4, 95% CI 1.0-1.8, p = 0.02), although enzyme activity levels were not different among deficient individuals from either gender group. Finally, median deficiency levels were found to be more severe among the deficient students from the north (0.7 U/gHg [0.2-0.7] p < 0.001) and south (0.7 U/gHg [0.5-2.5]), compared to those from the centre (1.4 U/gHg [0.6-2.1]). These findings suggest that Mozambique, as a historically high malaria-endemic country has considerable levels of G6PD deficiency, that vary significantly

  7. Glucose-6-phosphate dehydrogenase (G6PD. Response of the human erythrocyte and another cells to the decrease in their activity.

    Directory of Open Access Journals (Sweden)

    Javier Fernando Bonilla

    2009-11-01

    Full Text Available Glucose-6-phosphate dehydrogenase is the first enzyme in the pentose phosphate pathway and the main intracellular source of reduced nicotidamineadenine nucleotidephosphate (NADPH, involved in diverse physiological processes such as antioxidant defense, (for instance in the erythrocyte endothelial growth modulation, erithropoyesis, vascularization and phagocitosis. G6PDH deficiency is the most common X-chromosome-linked enzymopathy in human beings. Although it is present in any type cell, its absolute deficiency is incompatible with life. According to WHO, 400 million people are affected by G6PD deficiency in the world but in Colombia, the severe form prevalence is about 3% to 7%. There are no data related to slight and moderate alterations, that also have clinical effects. This paper reviews some G6PD biomolecular aspects, its classification according to activity and electrophoretic mobility, as well as some main clinical aspects related to its activity alteration.

  8. Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira

    Directory of Open Access Journals (Sweden)

    Mariane B. Compri

    2000-06-01

    Full Text Available Este trabalho teve por objetivo estudar a deficiência de G-6-PD em uma comunidade do interior do Estado de São Paulo (Bragança Paulista. Durante 36 meses foram selecionados 4.621 doadores de sangue do sexo masculino, detectando-se 80 deficientes em G-6-PD. A análise molecular foi realizada em 70 deficientes não consangüíneos mediante a amplificação de DNA por PCR seguida de digestão por enzimas de restrição e análise de polimorfismo de conformação em hélice simples (SSCP. Em 98,6% dos casos, foi identificada a mutação G-6-PD A- (202 G->A, por digestão do exon 4 com Nla III. Verificou-se a presença de mutação mais rara no exon 9, por SSCP. Não foi constatado caso da variante Mediterrânea. Tais resultados mostraram que a variante A- (202 G->A, quase que exclusiva, foi introduzida na comunidade não apenas por descendentes de africanos, como também pelos imigrantes italianos, espanhóis e portugueses. A contribuição italiana em termos da variante Mediterrânea de G-6-PD foi menor do que a sua participação em termos de talassemia beta, provavelmente devido à origem no Norte da Itália.

  9. Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira

    Directory of Open Access Journals (Sweden)

    Compri Mariane B.

    2000-01-01

    Full Text Available Este trabalho teve por objetivo estudar a deficiência de G-6-PD em uma comunidade do interior do Estado de São Paulo (Bragança Paulista. Durante 36 meses foram selecionados 4.621 doadores de sangue do sexo masculino, detectando-se 80 deficientes em G-6-PD. A análise molecular foi realizada em 70 deficientes não consangüíneos mediante a amplificação de DNA por PCR seguida de digestão por enzimas de restrição e análise de polimorfismo de conformação em hélice simples (SSCP. Em 98,6% dos casos, foi identificada a mutação G-6-PD A- (202 G->A, por digestão do exon 4 com Nla III. Verificou-se a presença de mutação mais rara no exon 9, por SSCP. Não foi constatado caso da variante Mediterrânea. Tais resultados mostraram que a variante A- (202 G->A, quase que exclusiva, foi introduzida na comunidade não apenas por descendentes de africanos, como também pelos imigrantes italianos, espanhóis e portugueses. A contribuição italiana em termos da variante Mediterrânea de G-6-PD foi menor do que a sua participação em termos de talassemia beta, provavelmente devido à origem no Norte da Itália.

  10. Zoledronic acid inhibits the pentose phosphate pathway through attenuating the Ras-TAp73-G6PD axis in bladder cancer cells.

    Science.gov (United States)

    Wang, Xiaolin; Wu, Guang; Cao, Guangxin; Yang, Lei; Xu, Haifei; Huang, Jian; Hou, Jianquan

    2015-09-01

    Zoledronic acid (ZA) is the current standard of care for the therapy of patients with bone metastasis or osteoporosis. ZA inhibits the prenylation of small guanosine‑5'-triphosphate (GTP)‑binding proteins, such as Ras, and thus inhibit Ras signaling. The present study demonstrated that ZA inhibited cell proliferation and the pentose phosphate pathway (PPP) in bladder cancer cells. In addition, the expression of glucose‑6‑phosphate dehydrogenase (G6PD, the rate‑limiting enzyme of the PPP) was found to be inhibited by ZA. Furthermore, the stability of TAp73, which activates the expression G6PD was decreased in zoledronic acid treated cells. Decreased levels of Ras‑GTP and phosphorylated‑extracellular signal-regulated kinase 1/2 were also observed following treatment with ZA. This may be due to the fact that activated Ras was reported to stabilize TAp73 inducing its accumulation. The inhibition of Ras activity by PT inhibitor II also significantly reduced the levels of TAp73 and G6PD and the PPP flux. Moreover, knockdown of TAp73, attenuated the PPP flux and eliminated the affection of ZA on the PPP flux. In conclusion, it was proposed that ZA can inhibit stability of TAp73 and attenuate the PPP via blocking Ras signaling in bladder cancer cells.

  11. Predicting the Kinetic Properties Associated with Redox Imbalance after Oxidative Crisis in G6PD-Deficient Erythrocytes: A Simulation Study

    Directory of Open Access Journals (Sweden)

    Hanae Shimo

    2011-01-01

    Full Text Available It is well known that G6PD-deficient individuals are highly susceptible to oxidative stress. However, the differences in the degree of metabolic alterations among patients during an oxidative crisis have not been extensively studied. In this study, we applied mathematical modeling to assess the metabolic changes in erythrocytes of various G6PD-deficient patients during hydrogen peroxide- (H2O2- induced perturbation and predict the kinetic properties that elicit redox imbalance after exposure to an oxidative agent. Simulation results showed a discrepancy in the ability to restore regular metabolite levels and redox homeostasis among patients. Two trends were observed in the response of redox status (GSH/GSSG to oxidative stress, a mild decrease associated with slow recovery and a drastic decline associated with rapid recovery. The former was concluded to apply to patients with severe clinical symptoms. Low max and high mG6P of G6PD were shown to be kinetic properties that enhance consequent redox imbalance.

  12. Investigation of Cosenza Mutation in Patients with Deficiency of Glucose-6-Phosphate Dehydrogenase (G6PD in North West of Iran

    Directory of Open Access Journals (Sweden)

    Omolbanin Javadi

    2015-03-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a greatly polymorphic enzyme encoded by human X-linked gene. G6PD deficit is the most public enzymopathy in human with about 400 million people affected globally. It is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate  to 6-phosphogluconolacton and the creation of reducing equals in the form of NADPH to meet the cellular redox formal and its absence origin hemolytic anemia - favism and newborn jaundice. Mutation in this enzyme cause three major types of unusual phenotype, including Mediterranean, Chatham and Cosenza. In this study, by Rapid Genomic DNA Extraction (RGDE method, from 90 blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was removed and next digestion by Eco81I enzymes, in order to research for Cosenza mutation, they were analyzed by means of PCR-RFLP. Sequencing methods were used. Of 90 patients, one patient had a Cosenza mutation frequency of 1.01%. Eighty-nine patients (98.99% were not affected by the Cosenza-type mutation. Accordingly, Cosenza mutation is not regarded as the most common mutation in Iranian North-west population.   

  13. Investigation of Cosenza Mutation in Patients with Deficiency of Glucose-6-Phosphate Dehydrogenase (G6PD in North West of Iran

    Directory of Open Access Journals (Sweden)

    Omolbanin Javadi Javadi

    2015-02-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a greatly polymorphic enzyme encoded by human X-linked gene. G6PD deficit is the most public enzymopathy in human with about 400 million people affected globally. It is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate  to 6-phosphogluconolacton and the creation of reducing equals in the form of NADPH to meet the cellular redox formal and its absence origin hemolytic anemia - favism and newborn jaundice. Mutation in this enzyme cause three major types of unusual phenotype, including Mediterranean, Chatham and Cosenza. In this study, by Rapid Genomic DNA Extraction (RGDE method, from 90 blood samples of unrelated male and female patients with genetic deficiency of G6PD, DNA was removed and next digestion by Eco81I enzymes, in order to research for Cosenza mutation, they were analyzed by means of PCR-RFLP. Sequencing methods were used. Of 90 patients, one patient had a Cosenza mutation frequency of 1.01%. Eighty-nine patients (98.99% were not affected by the Cosenza-type mutation. Accordingly, Cosenza mutation is not regarded as the most common mutation in Iranian North-west population.   

  14. Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population.

    Science.gov (United States)

    Haloui, Sabrine; Laouini, Naouel; Sahli, Chaima Abdelhafidh; Daboubi, Rim; Becher, Mariem; Jouini, Latifa; Kazdaghli, Kalthoum; Tinsa, Faten; Cherif, Semia; Khemiri, Monia; Fredj, Sondess Hadj; Othmani, Rim; Ouali, Faida; Siala, Hajer; Toumi, Nour El Houda; Barsaoui, Sihem; Bibi, Amina; Messaoud, Taieb

    2016-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum. The purpose of this study was to apply the amplification refractory mutation system (ARMS-PCR) to the identification of Gd A+, Gd A- and Gd B- variants in a cohort of deficient individuals and to establish a phenotype/genotype association. 90 subjects were screened for enzymatic deficiency by spectrophotometric assay. The molecular analyses were performed in a group of 50 unrelated patients. Of the 54 altered chromosomes examined, 60% had the Gd A- mutation, 18% showed the Gd B- mutation and in 20% of cases, no mutations have been identified. The ARMS-PCR showed complete concordance with the endonuclease cleavage reference method and agreed perfectly with previous Tunisian studies where Gd A- and Gd B- were the most encountered. Also, similarities in spectrum mutations with North African and Mediterranean countries suggest gene migration from Africa to Europe through Spain. In conclusion, ARMS has been introduced in this study for common G6PD alleles identification in Tunisia. It gives some advantages compared to the traditional endonuclease digestion method since it is more convenient and timesaving and also offers the possibility to be applied in mass screening surveys.

  15. 遗传性球形红细胞增多症合并G6PD缺乏1例报告%Hereditary spherocytosis accompanied with G6PD deifciency:a case report and literature review

    Institute of Scientific and Technical Information of China (English)

    马诗玥; 林发全

    2016-01-01

    Objective To discuss the clinical features, pathogenesis and diagnostic experience of hereditary spherocytosis (HS) accompanied with glucose-6-phosphate dehydrgenase deficiency (G6PD) deficiency.Methods Clinical features and diagnose of a 5-year-old case with HS accompanied with G6PD deifciency were analyzed, and realated literatures reviewed. Results The case was a 5-year-old boy referred to a hospital because of pallor and jaundice. Laboratory test results were as follows: red blood cell count 2.65×1012/ L, hemoglobin 70.50 g/L, mean corpuscular volume 78.61 fl, and mean sphered corpuscular volume 66.26 lf, reticulocyte ratio 18%; G6PD activity was 1.38 NBT. The peripheral red blood cells were of different sizes and mature, and spherocytes were observed. SDS-polyacrylamide gel electrophoresis and western blot shows the band 3 was partially deletion. Molecular analysis revealed the band 3 deifciency was caused by two mutations: one was a missensemutation c.113A> C, and the other was a intron mutation c.349+27C> T. A diagnosis of HS accompanied with G6PD deifciency was therefore arrived.Conclusions HS accompanied with G6PD deifciency is a relatively uncommon phenomenon and might lead to misdiagnosis. Blood smear staining, thalassemia screening, mean sphered corpuscular volume and other laboratory detections could improve the accuracy of diagnosis.%目的:探讨遗传性球形红细胞增多症(HS)合并葡萄糖-6-磷酸脱氢酶(G 6 PD)缺乏症的临床表现、发病机制和诊断经验。方法回顾分析1例5岁HS合并G 6 PD缺乏症患儿的临床表现、实验室检查,并复习国内外相关文献。结果患儿,男,5岁。因面色苍白伴黄疸,疑似地中海贫血就诊。红细胞计数2.65×1012/L,血红蛋白70.50 g/L,平均红细胞体积78.61 lf,平均球形红细胞体积66.26 lf,网织红细胞18%;镜检红细胞大小不等,以小细胞为主,球形红细胞约占15%;G6PD活性1.38 NBT;SDS-PAGE

  16. 广西地区不同地中海贫血类型G6PD酶活性水平初步研究%Study of the levels of G6PD activity in different types of thalassemia in Guangxi

    Institute of Scientific and Technical Information of China (English)

    赵林; 温乃健; 宁乐平; 梁亮; 韦金花; 李友琼

    2015-01-01

    Objective To analyse the levels of G6PD activity in different types of thalassemia in Guangxi and to study their association with thalassemia.Me thods One hundred and thirteen negative thalassemia samples and 248 different types of thalassemia samples were analyzed by gene analysis and were detected for G6PD activity.Re-sults The levels of G6PD activity was (6.76 ±2.28)U/gHb in the negative thalassemia group, (9.00 ±3.67 )U/gHb inαthalassemia group, (10.98 ±6.25) U/gHb in βthalassemia group, and (9.09 ±2.96) U/gHb in αβcomplex thalassemia group, with significantly differences compared with the negative thalassemia group ( P <0.05 ) .The G6PD activity levels ofαthalassemia in silent, trait and Hb H groups were (6.67 ±1.65)U/gHb,(8.89 ±2.12)U/gHb, (12.7 ±5.44)U/gHb respectively;of βthalassemia in trait and intermedia groups were (9.68 ±3.71)U/gHb and (18.43 ±10.71)U/gHb.There were significant differences in the levels of G6PD between the different types of αthalassemia andβthalassemia inαthalassemia and βthalassemia groups(P<0.05).Conclusion Different levels of G6PD activity go with different types of thalassemia, the more severe anemia the higher G6PD activity.%目的了解广西地区不同地中海贫血类型患者的葡萄糖-6-磷酸脱氢酶(G6PD)酶活性水平,探讨其与地中海贫血的关联性。方法对经过地中海贫血基因分析确诊阴性的113名健康人群和248例不同地中海贫血类型的患者进行G6PD 酶活性检测,并对结果进行统计学分析。结果健康人群组的G6PD 酶活性水平为(6.76±2.28)U/gHb,α地中海贫血为(9.00±3.67)U/gHb,β地中海贫血为(10.98±6.25)U/gHb,αβ复合型地中海贫血为(9.09±2.96)U/gHb,与健康人群组比较差异均有统计学意义(P <0.05)。α地中海贫血中静止型、轻型和中间型的G6PD 酶活性水平分别为(6.67±1.65)、(8.89±2.12)和(12.7±5.44

  17. Genetic diversity of hemoglobinopathies, G6PD deficiency, and ABO and Rhesus blood groups in two isolates of a primitive Kharia Tribe in Sundargarh District of Northwestern Orissa, India.

    Science.gov (United States)

    Balgir, R S

    2010-09-01

    Tribal communities constitute about 8.2% of the total population of India. Their health needs are even larger than elsewhere in India; this study investigates the genetic diversity in relation to hemoglobinopathies, G6PD deficiency and, ABO and Rhesus (D) blood groups in two sects, i.e. Dudh (converted Christian) and Dhelki (Hinduised) Kharia, a primitive tribe in Sundargarh district of Orissa in Central-Eastern India. A randomized screening of 767 Kharia tribals (377 males and 390 females) belonging to all age groups and both sexes was done. Laboratory analysis was carried out following the standard methodology and techniques. Contrasting differences were observed in the frequency of hematological genetic disorders such as β-thalassemia, sickle cell, hemoglobin E, G6PD deficiency, ABO and Rhesus (D) blood groups between the two subgroups. Dudh Kharia had no hemoglobin variant allele other than the high prevalence of β-thalassemia trait (8.1%), whereas, their counterpart Dhelki Kharia had the high prevalence of sickle cell allele (12.4%), hemoglobin E allele (3.2%), and β-thalassemia allele (4.0%). Frequency distribution of hemoglobin variants between Dudh and Dhelki Kharia tribe was statistically highly significant (p blood group was 1.1% in Dudh Kharia and absent in Dhelki Kharia (p < 0.05). This study showed genetic isolation of the two sects of Kharia tribe. Antimalarial drugs administration needs to be done with caution. Hematological disorders pose a major health challenge having multifaceted implications in public health genetics.

  18. G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

    Science.gov (United States)

    Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe

    2016-04-01

    The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children.

  19. G6PD: The Test

    Science.gov (United States)

    ... RBC Count , Hemoglobin , Autohemolysis Test, Heinz Body Stain, Lactate Dehydrogenase , Haptoglobin All content on Lab Tests Online has ... count and haptoglobin levels , increased reticulocyte count and lactate dehydrogenase levels , presence of bite cells on a blood ...

  20. Impact of G6PD deficiency on plasmodium falciparum malaria%G6PD缺陷症对恶性疟疾感染风险的影响

    Institute of Scientific and Technical Information of China (English)

    陈江涛; 杨辉; 詹小芬; 杨惠钿; 林敏; 刘配芬; 钟德善; 谢东德; Santiago-m Monte-Nguba; Juan Carlos Salas Ehapo; Urbano Monsuy Eyi; 杨立业

    2014-01-01

    Objective To investigate the impact of Glucose-6-phosphate dehydrogenase (G6PD) deficiency on plasmodium falciparum malaria. Methods A cross-sectional study was performed on 2 690 patients in Malabo regional hospital on Bioko Island during rainy season (2012). The plasmodium falciparum was identified by real-time PCR and oil immersion microscopy. G6PD deficiency was identified by a fluorescent spot test (FST) and PCR-DNA sequencing. Logistic regression was conducted to estimate the association between G6PD deficiency and malaria. Results The prevalence of G6PD was 9.22% in the population , all of whose genotype G6PD deficiency was G6PD*A-(c.202 G > A/c.376 A > G). Confounding factors-adjusted OR showed that G6PD deficiency provided significant protection against malaria (P 0.05). Conclusions The results suggest that male hemizygotes could provide protection against malaria. Further studies are required to explore the molecular mechanism in malaria infection.%目的:观察葡萄糖-6-磷酸脱氢酶(G6PD)缺陷症不同表型对恶性疟原虫感染的影响。方法:采用横断面研究的方式,将2012年雨季到马拉博地区医院就诊的2690名比奥克岛当地居民纳入研究。用显微镜镜检、荧光定量 PCR 结合熔解曲线法检测疟原虫。用荧光斑点法及 PCR-DNA 测序鉴定 G6PD 缺陷症。采用 Logistic 回归进行关联性分析。结果:该人群的 G6PD 缺陷症的总发生率为9.22%,基因型均为G6PD*A-(c.202 G>A/c.376 A>G)。G6PD缺陷症体现出强烈的疟疾保护作用(P<0.05);不同性别和表型的 G6PD 缺陷者中,只有男性半合子对疟疾有保护作用(P<0.05),而女性杂合子组与女性纯合子组均无统计学差异(P>0.05)。结论:G6PD 缺陷症的男性半合子表型能够减低恶性疟疾感染的风险,但是其机制尚未明确,有待更深入的研究。

  1. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes.

    Science.gov (United States)

    Rivella, S; Tamanini, F; Bione, S; Mancini, M; Herman, G; Chatterjee, A; Maestrini, E; Toniolo, D

    1995-08-10

    The transcriptional organization of the region of the mouse X chromosome between the G6pd and the Fln1 genes was studied in detail, and it was compared with the syntenic region of the human chromosome. A cosmid contig of 250 kb was constructed by screening mouse cosmid libraries with probes for human genes and with whole cosmids. Overlapping cosmids were aligned by comparing EcoRI and rare-cutter restriction enzyme digestions. The gene order and the orientation of transcription were determined by hybridization with fragments from the 5' and 3' moieties of each cDNA. Our work demonstrates that all of the new genes identified in human are present in the mouse. The size of the region, 250 kb, is also very similar, as are gene order and gene organization: the transcriptional organization in "domains" described in human is found to be identical in the mouse. The major difference detected is the much lower content in rare-cutter restriction sites, which is related to the lower G+C and CpG content of mouse DNA. The very high conservation that we have described suggests that a potent selective pressure has contributed to such conservation of gene organization.

  2. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes

    Energy Technology Data Exchange (ETDEWEB)

    Rivella, S.; Tamanini, F.; Bione, S.; Mancini, M. [Istituto de Genetica Biochinica ed Evoluzionistica, Pavia (Italy)] [and others

    1995-08-10

    The transcriptional organization of the region of the mouse X chromosome between the G6pd and the Fln1 genes was studied in detail, and it was compared with the syntenic region of the human chromosome. A cosmid contig of 250 kb was constructed by screening mouse cosmid libraries with probes for human genes and with whole cosmids. Overlapping cosmids were aligned by comparing EcoRI and rare-cutter restriction enzyme digestions. The gene order and the orientation of transcription were determined by hybridization with fragments from the 5{prime} and 3{prime} moieties of each cDNA. Our work demonstrates that all of the new genes identified in human are present in the mouse. The size of the region, 250 kb, is also very similar, as are gene order and gene organizations: the transcriptional organization in {open_quotes}domains{close_quotes} described in human is found to be identical in the mouse. The major difference detected is the much lower content in rare-cutter restriction sites, which is related to the lower G+C and CpG content of mouse DNA. The very high conservation that we have described suggests that a potent selective pressure has contributed to such conservation of gene organization. 17 refs., 4 figs.

  3. Glucosa-6-fosfato deshidrogenasa (G6PD). Respuesta de los hematíes y otras células humanas a la disminución en su actividad

    OpenAIRE

    Javier Fernando Bonilla; Magda Carolina Sánchez; Lilian Chuaire

    2007-01-01

    La glucosa-6-fosfato deshidrogenasa (G6PD) es la primera enzima de la vía pentosa fosfato y la principal fuente intracelular de nicotidamina adenina dinucleótido fosfato reducido (NADPH), compuesto comprometido en diversos procesos fisiológicos, por ejemplo defensa antioxidante (sobre todo células como los eritrocitos), modulación del crecimiento endotelial, eritropoyesis, vascularización y fagocitosis. La deficiencia de G6PD es la enzimopatía ligada al cromosoma X más común en el ser human...

  4. 一种新的G6PD基因突变型的鉴定%IDENTIFICATION OF A NOVEL MUTATION IN HUMAN G6PD GENE

    Institute of Scientific and Technical Information of China (English)

    蔡望伟; 周代锋; 蔡兰洁; 邝宇; 周玉英; FilosaStefania; MartiniGiuseppe

    2003-01-01

    目的:鉴定1例葡萄糖-6-磷酸脱氢酶缺乏症患者的基因突变.方法:用聚合酶链反应、限制性内切酶筛查葡萄糖-6-磷酸酶基因1 388G→A、1 376G→T、1 360C→T、1 024C→T、592C→T、517T→C、493A→G,487G→A、392G→T、95A→G突变,用单链构象多态性筛查葡萄糖-6-磷酸脱氢酶基因的所有外显子,用核苷酸序列测定确定基因突变.结果:该患者未存在1 388G→A、1 376G→T、1 360C→T、1 024C→T、592C→T、517T→C、493A→G、487G→A、392G→T、95A→G突变,但在外显子8发现了一种新的G6PD基因突变--835A→G突变,此突变导致第279位的苏氨酸被丙氨酸取代,将其命名为G6PD-海口,其酶活性约是正常的10%,比835A→T突变型的活性低,后者的酶活性约是正常的40%;分析人G6PD的三维结构模型表明,第279位苏氨酸残基的羟基对于维持G6PD亚基的相互作用具有非常重要的作用.结论:835A→G突变是一种新的G6PD基因突变型,G6PD的第279位苏氨酸残基的羟基是维持G6PD亚基相互作用及酶活性的必需基团.

  5. 珠蛋白生成障碍性贫血患者中葡萄糖-6-磷酸脱氢酶活性的调查%Investigation of G6PD activity in patients with thalassemia

    Institute of Scientific and Technical Information of China (English)

    陈炎添; 苏雪棠

    2012-01-01

    Objective To investigate the activity of glucose 6 phosphate dehydrogenase(G6PD) in patients with different types of thalassemia. Methods G6PD activity,blood cell counts and serum ferritin were detected for preliminary screening,and full auto matic agar gel analyzer was used to confirm the type of α or β thalassemia. G6PD activity of all subjects were statistically analyzed. Results There were statistical difference of G6PD activity between healthy subjects and patients with iron deficiency anemia (IDA) ,IDA combined thalassemia,α thalassemia minor,β thalassemia minor,β thalassemia major,hemoglobin H(HbH) disease and αcombine β thalassemia (P<0. 05). Conclusion The G6PD activity in patients with various types of thalassemia might be increased for different degree. It might be with certain value for auxiliary diagnosis of thalassemia.%目的 研究不同类型珠蛋白生成障碍性贫血(简称地贫)患者中葡萄糖-6-磷酸脱氢酶(G6PD)的活性.方法 采用G6PD活性定量测定,血常规和血清铁蛋白检测对人群进行初筛,同时采用全自动琼脂糖凝胶电泳检测初筛人群的α-地贫以及β-地贫类型,并对其G6PD活性值进行相关统计学分析.结果 健康人群、单纯缺铁性贫血、缺铁性贫血合并地贫、轻型α-地贫、轻型β-地贫、重型β-地贫、血红蛋白H(HbH)病以及α-地贫合并β-地贫各组间G6PD活性差异有统计学意义(P<0.05).结论 各类型地贫患者的G6PD活性有不同程度的升高,对地贫的辅助诊断有一定的价值.

  6. 云南10个民族7岁以下儿童血红蛋白病与G6PD缺乏症的调查%Investigation on hemoglobinopathy and G6PD deficiency among the Children under 7 years of ten ethnic groups in Yunnan

    Institute of Scientific and Technical Information of China (English)

    姚莉琴; 王兴田; 邹团标; 陈谦; 杨发斌; 忽丽莎; 范丽梅; 全星; 赵钟鸣; 刘锦桃

    2011-01-01

    目的:了解云南三边境州10个特有少数民族的7岁以下儿童血红蛋白病和G6PD缺乏症的现状.方法:血红蛋白病检测:对调查者应用日本SysmexKX - 21N和迈瑞- 2000血细胞分析仪进行血细胞分析,醋酸纤维薄膜电泳检测血红蛋白,DNA序列分析及ARMS基因检测;G6PD缺乏症检测采用改良葡萄糖6-磷酸脱氢酶(G6PD)比值法.结果:地贫检出率以德宏州最高(46.2%),怒江州最低(30.6%),版纳州居中.β-地贫以阿昌族居首位40.6% (39/96),独龙族最低为2.5%(5/204).α--地贫以版纳傣族最高为22.1%(266/1204),其次为独龙族19.1% (39/204).G6PD缺乏症检出率德宏州为6.7%(146/2190),版纳州为2.2% (60/2780),怒江州为1.0% (14/1407).G6PD缺乏症以德昂族最高为8.6% (30/349),其次为阿昌族7.3% (19/261).异常血红蛋白检出率为2.4%.结论:血红蛋白病和G6PD缺乏症在云南省三边境州10个特有少数民族7岁以下儿童属高发,血红蛋白病和G6PD缺乏症的人群地理分布与历史上疟疾流行的地理分布存在着一定的相关性.%Objective: To understand the current situations of hemoglobinopathy and G6PD deficiency among the children under 7 years of ten ethnic groups in border of Yunnan. Methods: Detection of hemoglobin; the children received blood cell analysis by Japanese SysmexKX - 21N blood cell analyzer and Mindray - 2000 blood cell analyzer, cellulose acetate membrane electrophoresis was used to detect hemoglobin, DNA sequence analysis and ARMS gene detection were conducted. Detection of G6PD deficiency: modified G6PD ratio method was used. Results: The incidence of thalassaemia in Dehong prefecture was the highest (46. 2% ) , the incidence of thalassaemia in Nujiang prefecture was the lowest ( 30. 6% ) , the incidence of thalassaemia in Banna prefecture was moderate. The incidence of β - thalassaemia in children of Achang nationality was the highest (40. 6% , 39/96) , the incidence of p

  7. Glucosa-6-fosfato deshidrogenasa (G6PD. Respuesta de los hematíes y otras células humanas a la disminución en su actividad

    Directory of Open Access Journals (Sweden)

    Javier Fernando Bonilla

    2007-03-01

    Full Text Available La glucosa-6-fosfato deshidrogenasa (G6PD es la primera enzima de la vía pentosa fosfato y la principal fuente intracelular de nicotidamina adenina dinucleótido fosfato reducido (NADPH, compuesto comprometido en diversos procesos fisiológicos, por ejemplo defensa antioxidante (sobre todo células como los eritrocitos, modulación del crecimiento endotelial, eritropoyesis, vascularización y fagocitosis. La deficiencia de G6PD es la enzimopatía ligada al cromosoma X más común en el ser humano. Si bien se puede presentar en cualquier tipo de célula, su carencia absoluta es incompatible con la vida. Según la OMS, en el mundo hay más de 400 millones de personas afectadas por la deficiencia de la enzima, y para Colombia calculan una prevalencia de la deficiencia severa entre 3% y 7%, pero no se conocen los datos relativos a las alteraciones leves y moderadas, que también tienen efectos clínicos. El presente artículo revisa los aspectos biomoleculares más importantes de la enzima, su clasificación de acuerdo con la actividad y la movilidad electroforética, y también se mencionan algunos aspectos clínicos relacionados con la alteración de su actividad.

  8. 赤道几内亚比奥科岛G6PD缺乏症分子流行病学研究%Molecular epidemiological investigation of the G6PD deficiency on Bioko Island, Equatorial Guinea

    Institute of Scientific and Technical Information of China (English)

    詹小芬; 陈江涛; 谢东德; 杨辉; 杨惠钿; 杨立业; 陆志为; Santiago-m Monte-Nguba; Juan Carlos Salas Ehapo

    2014-01-01

    目的 探讨非州西部赤道几内亚比奥科岛(Bioko Island)人群的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因型. 方法 在2012年1月至5月期间,用荧光斑点法对2 187名比奥科岛当地居民进行G6PD缺乏症筛查.采用高分辨熔解曲线(High-resolution melting,HRM)分析G6PD缺乏的标本的c.202 G>A与c.376 A>G.对HRM筛选不出突变的G6PD酶学缺乏的样本,针对非洲的其他突变类型:c.542 A>T(rs5030872)、c.680 G>A(rs137852328)、c.968 T>C(rs76723693)进行PCR-DNA测序. 结果 赤道几内亚比奥科岛人群的G6PD缺乏症总发生率为8.64% (189/2 187),其中男性84例(9.04%,84/929),女性105例(8.34%,105/1 258),男女检出率比为1.08:1.在189例G6PD缺乏标本中共检出两种基因类型,其中包括G6PD A变异体(c.376 A>G/c.202 G>A)186例(98.41%,186/189G6PD Betica(c.376 A>G/c.968T> C)3例(1.59%3/189). 结论 赤道几内亚比奥科岛是G6PD缺乏症高发区,基因型比较单一.HRM技术可用于非洲地区G6PD缺乏症的临床诊断和流行病学研究.

  9. Incidence and mutation analysis of glucose-6-phosphate dehydrogenase deficiency in eastern indonesian populations

    Directory of Open Access Journals (Sweden)

    Tantular,Indah S.

    2010-12-01

    Full Text Available We conducted a field survey of glucose-6-phosphate dehydrogenese (G6PD deficiency in the eastern Indonesian islands, and analyzed G6PD variants molecularly. The incidence of G6PD deficiency in 5 ethnic groups (Manggarai, Bajawa, Nage-Keo, Larantuka, and Palue on the Flores and Palue Islands was lower than that of another native group, Sikka, or a nonnative group, Riung. Molecular analysis of G6PD variants indicated that 19 cases in Sikka had a frequency distribution of G6PD variants similar to those in our previous studies, while 8 cases in Riung had a different frequency distribution of G6PD variants. On the other hand, from field surveys in another 8 ethnic groups (Timorese, Sumbanese, Savunese, Kendari, Buton, Muna, Minahasa, and Sangirese on the islands of West Timor, Sumba, Sulawesi, Muna and Bangka, a total of 49 deficient cases were detected. Thirty-nine of these 49 cases had G6PD Vanua Lava (383T>C of Melanesian origin. In our previous studies, many cases of G6PD Vanua Lava were found on other eastern Indonesian islands. Taken together, these findings may indicate that G6PD Vanua Lava is the most common variant in eastern Indonesian populations, except for Sikka.

  10. Incidence and mutation analysis of glucose-6-phosphate dehydrogenase deficiency in eastern Indonesian populations.

    Science.gov (United States)

    Tantular, Indah S; Matsuoka, Hiroyuki; Kasahara, Yuichi; Pusarawati, Suhintam; Kanbe, Toshio; Tuda, Josef S B; Kido, Yasutoshi; Dachlan, Yoes P; Kawamoto, Fumihiko

    2010-12-01

    We conducted a field survey of glucose-6-phosphate dehydrogenese (G6PD) deficiency in the eastern Indonesian islands, and analyzed G6PD variants molecularly. The incidence of G6PD deficiency in 5 ethnic groups (Manggarai, Bajawa, Nage-Keo, Larantuka, and Palue) on the Flores and Palue Islands was lower than that of another native group, Sikka, or a nonnative group, Riung. Molecular analysis of G6PD variants indicated that 19 cases in Sikka had a frequency distribution of G6PD variants similar to those in our previous studies, while 8 cases in Riung had a different frequency distribution of G6PD variants. On the other hand, from field surveys in another 8 ethnic groups (Timorese, Sumbanese, Savunese, Kendari, Buton, Muna, Minahasa, and Sangirese) on the islands of West Timor, Sumba, Sulawesi, Muna and Bangka, a total of 49 deficient cases were detected. Thirty-nine of these 49 cases had G6PD Vanua Lava (383T>C) of Melanesian origin. In our previous studies, many cases of G6PD Vanua Lava were found on other eastern Indonesian islands. Taken together, these findings may indicate that G6PD Vanua Lava is the most common variant in eastern Indonesian populations, except for Sikka.

  11. 黄酮类化合物对葡萄糖-6-磷酸脱氢酶缺乏者红细胞的体外氧化作用%The oxidative effects of flavonoids on G6PD-deficient erythrocytes in vitro

    Institute of Scientific and Technical Information of China (English)

    张婧; 张志豪; 黎曙霞

    2011-01-01

    目的:探讨黄酮类化合物对葡萄糖-6-磷酸脱氢酶(G6PD)缺乏者红细胞氧化还原状态的影响.方法:将低、中、高浓度的槲皮素、黄芩素、芹菜素、漆黄素、木犀草素、柚皮素、桑黄素、山奈酚、葛根素和芦丁分别与G6PD缺乏者及正常者红细胞在40%红细胞悬液和全血中进行体外孵育,测定红细胞还原性谷胱甘肽(GSH)和高铁血红蛋白(MetHb)的水平.结果:槲皮素、黄芩素、芹菜素、漆黄素、木犀草素、柚皮素、桑黄素、山奈酚具有较强的氧化作用,能明显降低G6PD缺乏者红细胞GSH水平,升高MetHb水平.葛根素仅降低G6PD缺乏者红细胞GSH水平,具有较弱的氧化作用.芦丁对G6PD缺乏者红细胞GSH和MetHb均无影响.较高浓度的槲皮素、芹菜素、桑黄素亦能使G6PD正常者MetHb水平升高.黄酮类化合物的氧化作用呈一定浓度依赖性,在中、高浓度时表现明显.结论:部分黄酮类化合物对G6PD缺乏者红细胞具有氧化作用,建议G6PD缺乏者慎用富含氧化性黄酮类化合物的中草药及其制剂.%OBJECTIVE To investigate the effects of flavonoids on the oxidative and reductive status of glucose-6-phosphate dehydrogenase (G6PD)-deficient erythrocytes. METHODS The G6PD-deficient and normal erythrocytes of 40% erythrocyte suspension and whole blood were respectively incubated with quercetin, baicalein, apigenin, fisetin, luteolin, naringenin, morin, kaempferol,puerarin and rutin at low, medium and high concentrations in vitro. The resulting levels of reduced glutathione (GSH) and methemoglobin (MetHb) of erythrocytes in each group were determined. RESULTS Quercetin,baicalein,apigenin, fisetin,luteolin,naringenin,morin,kaempferol with strong oxidative effects significantly reduced GSH and increased MetHb levels in G6PD-deficient erythrocytes. Puerarin which possessed weak oxidative effect just caused GSH reduced in G6PD-deficient erythrocytes. Rutin had no effects on both

  12. The present situation of thalassemia and G - 6PD deficiency in pregnant women in Shenzhen Baoan area.%深圳宝安地区孕妇地中海贫血和G-6PD缺乏现状调查研究分析

    Institute of Scientific and Technical Information of China (English)

    刘爱胜; 陈荣贵; 文艳

    2011-01-01

    目的 调查研究深圳宝安地区孕妇地中海贫血和葡萄糖-6-磷酸脱氢酶(G-6PD)缺乏发生率现状,探讨产前筛查地中海贫血和G-6PD的临床价值.方法 应用地中海贫血一管筛查法和G-6PD比值法检测孕14~20周孕妇5 976例,筛查其地中海贫血及G-6PD缺乏症发生率.同时,对筛查地中海贫血阳性者进行血红蛋白电泳分型.结果在5 976例受检者孕妇中,地中海贫血者为372例,G-6PD缺乏者为286例,检出率分别为6.2%(372/5976)和4.8%(286/5976).检出α地中海贫血163例,占43.8%(163/372),β-地中海贫血189例,占50.8%(189/372),其它类型异常血红蛋白5.4%(20/372).结论 在地中海贫血高发区进行产前地中海贫血和G-6PD缺乏的筛查,是避免重型地中海贫血患儿的出生及新生儿溶血黄疸的有效措施.%Objective To investigate the incidence of thalassemia and G - 6PD deficiency in pregnant woman in Baoan, Shenzhen, and discuss the clinical value of pre - natal screening of thalassemia and G - 6PD. Methods Thalassemia and G - 6PD deficiency were screened with the examinations of osmotic fragility and relative value of G - 6PD respectively in 5976 14 ~ 20 weeks pregnant women. Hemoglobin electrophoresis was further performed for pregnant women with positive thalassemia screening results. Results Of 5976 pregnant women, thalassemia and G - 6PD deficiency were found in 372 ( 6.2% ) and 286 ( 4.8% ) respectively. The classification of the 372 thalassemia patients included α - thalassemia in 163 ( 43.8%, 163/372 ), β - thalassemfia in 189 ( 50.8%, 189/372 ) and other type abnormal hemoglobin in 20 ( 5.4%, 20/372 ). Conclusion Pre - natal screening of thalassemia and G - 6PD deficiency is effective in the prevention of thalassemia and hemolytic jaundice of the newborn.

  13. 新生儿脐血地贫筛查和葡萄糖-6-磷酸脱氢酶缺乏的分析%Prenatal screening of thalassemia in 7210 samples of neonatal cord blood and G6PD deficiency

    Institute of Scientific and Technical Information of China (English)

    余小燕; 余相; 张丽科

    2010-01-01

    目的 探讨经过规律产检和遗传咨询新生儿血红蛋白病和红细胞酶疾病的发病率的控制情况.方法 应用血红蛋白电泳和葡萄糖-6-磷酸脱氢酶(G6PD)比值法检查7210例新生儿的脐血血红蛋白电泳区带和G-6-PD结果.结果 筛查7210例新生儿脐血中,检出G6PD缺乏患儿150例,静止型α-地贫85例,标准型α-地贫205例,检出率各为4.48%、2.54%、6.13%.09年检出G6PD缺乏患儿166例,静止型α-地贫95例,标准型α-地贫220例,检出率各为4.30%、2.46%、5.69%.同比下降分别为0.18%、0.08%、0.44%.结论 经过正规的产检和遗传咨询后确认为低风险的新生儿出生后发病的概率比预测的概率减低,且产检和遗传咨询对预防重度地贫患儿的出生有重大的作用.%Objective To explore the incidence of newborn hemoglobinopathy and erythrocyte enzyme disorders after regular prenatal visits and genetic consulting. Methods The band on hemoglobin electrophoresis and the G6PD level were detected in 7210 samples of umbilical cord blood by hemoglobin electrophoresis and G6PD ratio method. Results Of 7210 samples,the detection rate of G6PD deficiency was 4.38%. The detected rates of α -thalassemia with a/a mutation and standard α-thalassemia were 2.50%and 5.89%. The incidence of the three disorders in 2009 was decreased by 0.18%,0.08%,and 0.44%,as compared with 2008. Conclusions The probability of the incidence of the disorders reduces in the confirmed low-risk neonates after regular prenatal visits and consulting,as compared with the predictive probability. Prenatal visits and genetic consulting play an important role in preventing the birth rate of neonates with severe thalassemia.

  14. A Pedigree Analysis of a Family With Familial Hypercholesterolemia

    Institute of Scientific and Technical Information of China (English)

    Li Jianjun; Wang Yaolin; Hu Chenglin; Chen Jiangbin; Wang Jingming; Xu Jlaoli

    2000-01-01

    Objective The current study was designed to investigate the features of a family with familial hypercholesterolemia(FH). Methods Twenty members of three generations in a family with FH were enrolled in the study. The data collected were from clinical observation and subjected to pedigree analysis.Results The proband was a 41 years old male who suffered from angina pectoris with multi-vessel stenosis of coronary artery at the age of 40. Among 20 members,8 individuals were demonstrated with hypercholesterolemia in this family with the total incidence of 40%[54.5% (6/11) in male and 22.2% (2/9) in female ]The serum total cholesterol level was elevated in childhood from 7.1 to 10. 8 mmol/L and tended to be raised with increasing age. In addition, the level of total cholesterol was found to be elevated both in a monozygote twin brothers and their offspring in the family.Conclusion FH appears to be a hereditary disease of autosomal dominance inheritance and the outcome of FH patients with coronary heart disease seems to be poor in prognosis.

  15. Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia

    Directory of Open Access Journals (Sweden)

    Hui Yang

    2016-08-01

    Conclusion: Besides G6PD-deficiency screening, UGT1A1 genetic analysis, and especially the UGT1A1*6(c.211G>A, p.Arg71Gly polymorphism detection, may be taken into consideration for early diagnosis and treatment of severe hyperbilirubinemic newborns in southern China.

  16. analysis of economic and family

    African Journals Online (AJOL)

    2007-12-26

    Dec 26, 2007 ... episodes of the illness are very disruptive to daily life, work and family .... K) to what extent your relationship with the patient was in crisis due to the patients illness, ..... burden of depression in l990/ Clin Psychiatry 1999; 54: 405-418 l 0. judd LL, ... sexual satisfaction in the pa rtriers of bipolar patients. Bipolar ...

  17. MOLECULAR BASIS OF G6PD DEFICIENCY: CURRENT STATUS AND ITS PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    M. R. Noori-Daloii

    2008-06-01

    Full Text Available Glucose-6-phosphate dehydrogenase is an essential enzyme to cell growth. Its deficiency of enzyme plays an important role in senescence and death signaling. Also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. Clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, and chronic hemolytic anemia. The enzyme gene spans 18 kb on the X chromosome (xq28 and contains 13 exons. Its promoter is embedded in a CpG island that is conserved from mice to humans. The development of a number of PCR-based methods for the detection of known mutations in Glucose-6-phosphate dehydrogenase has made it possible to detect enzyme deficiency and identify the specific mutation responsible with relative ease. We will discuss the mentioned clinical manifestations of glucose-6-phosphate dehydrogenase deficiency, Genetics, biochemistry and pathophysiology of the enzyme in details using newer published data and present most of the studies in Iranian population.

  18. Advancing Family Business Research Through Narrative Analysis

    DEFF Research Database (Denmark)

    Dawson, Alexandra; Hjorth, Daniel

    2012-01-01

    business. This interpretive perspective is appropriate for family business studies, which address multifaceted and complex social constructs that are performed by different actors in multiple contexts. The analysis highlights five key themes centering on leadership style and succession, trust...

  19. Evolution Analysis About Soybean MIR166 Family

    Institute of Scientific and Technical Information of China (English)

    Wang Zhi-hao; Jin Hui-hui; Chen Qing-shan; Zhu Rong-sheng

    2015-01-01

    MicroRNA (miRNA) is a class of important regulating non-coding small molecular RNA. The gma-MIR166 gene family consists of 21 members and their expression patterns diversify widely. It is important to analyze the evolution of gma-MIR166 gene family in order to understand the evolutionary mechanisms of miRNAs in soybean. In this study, we implemented soybean wide genome block analysis, the molecular phylogeny of gma-MIR166 and block analysis of gma-MIR166 family. The results showed that both chromosome big segmental duplications and tandem duplications were main reasons contributed to the expanding of gma-MIR166 gene family. These findings suggested that gma-MIR166 gene family might originate from one or two ancient miRNA genes. The results of research provided a support for evolutionary study of miRNAs in soybean and related species in Fabaceae.

  20. Family size in primary trisonic analysis

    OpenAIRE

    Romagosa, Ignacio

    1982-01-01

    [EN] In the planning of any genetic experiment the minimum family size should be determined in order to minimize the total efforts, while fulfilling the objectives of the experiment. In the present study, the family size has been determined for different methods and extra chromosome transmission rates in primary trisomic analysis. The statistical criterion used was the "minimax" solution. Tables for both F2 and backcross generation for different transmission rates and type of trisomic inheri...

  1. Multilocus sequence analysis of the family Halomonadaceae.

    Science.gov (United States)

    de la Haba, Rafael R; Márquez, M Carmen; Papke, R Thane; Ventosa, Antonio

    2012-03-01

    Multilocus sequence analysis (MLSA) protocols have been developed for species circumscription for many taxa. However, at present, no studies based on MLSA have been performed within any moderately halophilic bacterial group. To test the usefulness of MLSA with these kinds of micro-organisms, the family Halomonadaceae, which includes mainly halophilic bacteria, was chosen as a model. This family comprises ten genera with validly published names and 85 species of environmental, biotechnological and clinical interest. In some cases, the phylogenetic relationships between members of this family, based on 16S rRNA gene sequence comparisons, are not clear and a deep phylogenetic analysis using several housekeeping genes seemed appropriate. Here, MLSA was applied using the 16S rRNA, 23S rRNA, atpA, gyrB, rpoD and secA genes for species of the family Halomonadaceae. Phylogenetic trees based on the individual and concatenated gene sequences revealed that the family Halomonadaceae formed a monophyletic group of micro-organisms within the order Oceanospirillales. With the exception of the genera Halomonas and Modicisalibacter, all other genera within this family were phylogenetically coherent. Five of the six studied genes (16S rRNA, 23S rRNA, gyrB, rpoD and secA) showed a consistent evolutionary history. However, the results obtained with the atpA gene were different; thus, this gene may not be considered useful as an individual gene phylogenetic marker within this family. The phylogenetic methods produced variable results, with those generated from the maximum-likelihood and neighbour-joining algorithms being more similar than those obtained by maximum-parsimony methods. Horizontal gene transfer (HGT) plays an important evolutionary role in the family Halomonadaceae; however, the impact of recombination events in the phylogenetic analysis was minimized by concatenating the six loci, which agreed with the current taxonomic scheme for this family. Finally, the findings of

  2. Secondary Data Analysis in Family Research

    Science.gov (United States)

    Hofferth, Sandra L.

    2005-01-01

    This article first provides an overview of the part that secondary data analysis plays in the field of family studies in the early 21st century. It addresses changes over time in the use of existing omnibus data sets and discusses their advantages and disadvantages. The second part of the article focuses on the elements that make a study a…

  3. Analysis of metabolomics data from twin families

    NARCIS (Netherlands)

    Draisma, Hermanus Henricus Maria

    2011-01-01

    Metabolomics is the comprehensive analysis of small molecules involved in metabolism, on the basis of samples that have been obtained from organisms in a given physiological state. Data obtained from measurements of trait levels in twin families can be used to elucidate the importance of genetic and

  4. Family and Consumer Studies 13: Fashion Analysis.

    Science.gov (United States)

    Carleo, A. Susan

    A description is provided of Family and Consumer Studies 13: Fashion Analysis, an introductory course on the basic principles of fashion and clothing, giving special consideration to the impact of societal, cultural, religious, and psychological factors on clothing choices. First, general information is provided on the course, its place in the…

  5. Genetic analysis of familial spontaneous pneumothorax in an Indian family.

    Science.gov (United States)

    Ray, Anindita; Paul, Suman; Chattopadhyay, Esita; Kundu, Susmita; Roy, Bidyut

    2015-06-01

    Familial spontaneous pneumothorax is one of the phenotypes of Birt-Hogg-Dubé syndrome (BHDS), an autosomal dominant condition associated with folliculin (FLCN). We investigated clinical and genetic data of an Indian family having two patients suffering from spontaneous pneumothorax in the absence of skin lesions or renal tumors. HRCT scan of patient's lung revealed paracardiac cysts, and DNA sequencing of all 14 exons of FLCN from patients showed the presence of heterozygous "C allele" deletion in the poly-cytosine (poly-C) tract of exon 11 leading to truncated folliculin. This mutation was also observed in four asymptomatic members of the family. Our results confirmed the presence of deletion mutation in poly-C tract of FLCN in members of BHDS family. This is the first report of genetic insight in a BHDS family from India but in-depth studies with a larger sample set are necessary to understand mechanism of familial pneumothorax.

  6. Analysis on Family Factor in Construction of New Socialist Countryside

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    This paper analyzes the family factor in the construction of new socialist countryside. It is believed that the family plays both the positive role and negative role in new socialist countryside construction. Based on this analysis,it puts forward corresponding countermeasures,including bringing into play the effect of family in promoting production and carrying forward excellent factors of family culture.

  7. Emphases of the Major Family Therapy Models: A Family FIRO Analysis.

    Science.gov (United States)

    Doherty, William J.; And Others

    1985-01-01

    Analyzes 13 models of family therapy according to their special emphases on the Family FIRO (Fundamental Interpersonal Relationship Orientation) model's dimensions of inclusion, control, and intimacy. Final conceptual analysis of models indicated that four family therapy models emphasized inclusion as a primary focus, four emphasized control, and…

  8. Joint-multiple family linkage analysis predicts within-family variation better than single-family analysis of the maize nested association mapping population.

    Science.gov (United States)

    Ogut, F; Bian, Y; Bradbury, P J; Holland, J B

    2015-06-01

    Quantitative trait locus (QTL) mapping has been used to dissect the genetic architecture of complex traits and predict phenotypes for marker-assisted selection. Many QTL mapping studies in plants have been limited to one biparental family population. Joint analysis of multiple biparental families offers an alternative approach to QTL mapping with a wider scope of inference. Joint-multiple population analysis should have higher power to detect QTL shared among multiple families, but may have lower power to detect rare QTL. We compared prediction ability of single-family and joint-family QTL analysis methods with fivefold cross-validation for 6 diverse traits using the maize nested association mapping population, which comprises 25 biparental recombinant inbred families. Joint-family QTL analysis had higher mean prediction abilities than single-family QTL analysis for all traits at most significance thresholds, and was always better at more stringent significance thresholds. Most robust QTL (detected in >50% of data samples) were restricted to one family and were often not detected at high frequency by joint-family analysis, implying substantial genetic heterogeneity among families for complex traits in maize. The superior predictive ability of joint-family QTL models despite important genetic differences among families suggests that joint-family models capture sufficient smaller effect QTL that are shared across families to compensate for missing some rare large-effect QTL.

  9. Analysis of Primary School Teachers' Opinions on Family Diversity

    Science.gov (United States)

    Bosch, Alvaro Capano; Massonnier, Natalie; González Tornaría, Maria del L.

    2016-01-01

    This article aims to do an analysis based on the opinion of primary school teachers on family models that are different from the traditional nuclear family. We worked with 60 teachers from Montevideo and the metropolitan area. They answered the Questionnaire: Teachers' Opinion on Family Diversity (CIDF for its Spanish acronym) (Morgado,…

  10. Pedigree analysis in families with febrile seizures

    Energy Technology Data Exchange (ETDEWEB)

    Johnson, W.G.; Kugler, S.L.; Stenroos, E.S.; Meulener, M.C. [Robert Wood Johnson Medical School, Piscataway, NJ (United States)] [and others

    1996-02-02

    Febrile seizures are the most common form of seizures, occurring in an estimated 2-5% of North American children. We carried out a systematic pedigree study of febrile seizure probands. Forty of 52 probands (77%) in a referral population selected for increased severity had more than one case per family: one family had 10 cases, one family had 7, 3 families had 6, 2 had 5, 3 had 4, 13 had 3, and 17 had 2 cases. Mode of inheritance in the multicase families best fit the hypothesis of autosomal dominance with reduced penetrance. Polygenic inheritance could not be excluded for some of the smaller families. There was no support for X-linked or mitochondrial inheritance. Penetrance was calculated to be 0.64. Because the cases were selected for increased severity, this represents a useful estimate of the upper limit of penetrance and is in agreement with twin studies. Simulated lod scores showed adequate power for a linkage study in the absence of heterogeneity. Individual families had simulated average lod scores as high as 2.1. However, with potential heterogeneity, assuming only 70% of families share the same disease locus, average lod scores were marginal, and a high density map of marker loci and additional families would be required to document linkage. 41 refs., 3 figs., 2 tabs.

  11. Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas

    NARCIS (Netherlands)

    Harinck, Femme; Kluijt, Irma; van der Stoep, Nienke; Oldenburg, Rogier A.; Wagner, Anja; Aalfs, Cora M.; Sijmons, Rolf H.; Poley, Jan-Werner; Kuipers, Ernst J.; Fockens, Paul; van Os, Theo A. M.; Bruno, Marco J.

    2012-01-01

    Background CDKN2A-mutation carriers run a high risk of developing melanomas and have an increased risk of developing pancreatic cancer (PC). Familial PC (FPC) patients with a personal history or family history of melanomas are therefore offered CDKN2A-mutation analysis. In contrast, CDKN2A testing i

  12. Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions

    Institute of Scientific and Technical Information of China (English)

    LI Haiyan; TANG Beisha; XIA Kun; CAO Guifang; SHEN Lu; JIANG Hong; PAN Qian; SONG Yanmin; CAI Fang

    2005-01-01

    Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant inherited epilepsy syndrome. Two voltagegated potassium channel genes, KCNQ2 and KCNQ3, have been identified as the genes responsible for BFNC. Here we report two Chinese families with clinical histories of typical BFNC. Using six microsatellite markers, two located at KCNQ2 locus and four at KCNQ3 locus, linkage analysis was performed in the two families, which excluded the linkage of BFNC to KCNQ3, but could not exclude the linkage to KCNQ2. Direct DNA sequencing of the KCNQ2 gene in the two families was performed, and two formerly unknown polymorphisms were identified, but no KCNQ2 mutation was found in the two families. Our study suggests the genetic heterogeneity in Chinese families with BFNC and proves the existence of a new gene locus for BFNC.

  13. On the validity of within-nuclear-family genetic association analysis in samples of extended families.

    Science.gov (United States)

    Bureau, Alexandre; Duchesne, Thierry

    2015-12-01

    Splitting extended families into their component nuclear families to apply a genetic association method designed for nuclear families is a widespread practice in familial genetic studies. Dependence among genotypes and phenotypes of nuclear families from the same extended family arises because of genetic linkage of the tested marker with a risk variant or because of familial specificity of genetic effects due to gene-environment interaction. This raises concerns about the validity of inference conducted under the assumption of independence of the nuclear families. We indeed prove theoretically that, in a conditional logistic regression analysis applicable to disease cases and their genotyped parents, the naive model-based estimator of the variance of the coefficient estimates underestimates the true variance. However, simulations with realistic effect sizes of risk variants and variation of this effect from family to family reveal that the underestimation is negligible. The simulations also show the greater efficiency of the model-based variance estimator compared to a robust empirical estimator. Our recommendation is therefore, to use the model-based estimator of variance for inference on effects of genetic variants.

  14. Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family.

    Science.gov (United States)

    Prasad, A S; Tranchida, L; Konno, E T; Berman, L; Albert, S; Sing, C F; Brewer, G J

    1968-06-01

    Detailed clinical and genetic studies have been performed in a Negro family, which segregated for sex-linked sideroblastic anemia and glucose-6-phosphate dehydrogenase (G-6-DP) deficiency. This is the first such pedigree reported. Males affected with sideroblastic anemia had growth retardation, hypochromic microcytic anemia, elevated serum iron, decreased unsaturated iron-binding capacity, increased (59)Fe clearance, low (59)Fe incorporation into erythrocytes, normal erythrocyte survival ((51)Cr), normal hemoglobin electrophoretic pattern, erythroblastic hyperplasia of marrow with increased iron, and marked increase in marrow sideroblasts, particularly ringed sideroblasts. Perinuclear deposition of ferric aggregates was demonstrated to be intramitochondrial by electron microscopy. Female carriers of the sideroblastic gene were normal but exhibited a dimorphic population of erythrocytes including normocytic and microcytic cells. The bone marrow studies in the female (mother) showed ringed marrow sideroblasts. Studies of G-6-PD involved the methemoglobin elution test for G-6-PD activity of individual erythrocytes, quantitative G-6-PD assay, and electrophoresis. In the pedigree, linkage information was obtained from a doubly heterozygous woman, four of her sons, and five of her daughters. Three sons were doubly affected, and one was normal. One daughter appeared to be a recombinant. The genes appeared to be linked in the coupling phase in the mother. The maximum likelihood estimate of the recombination value was 0.14. By means of Price-Jones curves, the microcytic red cells in peripheral blood were quantitated in female carriers. The sideroblast count in the bone marrow in the mother corresponded closely to the percentage of microcytic cells in peripheral blood. This is the second example in which the cellular expression of a sex-linked trait has been documented in the human red cells, the first one being G-6-PD deficiency. The coexistence of the two genes in doubly

  15. Finding Suitable Variability Abstractions for Family-Based Analysis

    DEFF Research Database (Denmark)

    Dimovski, Aleksandar; Brabrand, Claus; Wasowski, Andrzej

    2016-01-01

    For program families (Software Product Lines), specially designed variability-aware static (dataflow) analyses allow analyzing all variants (products) of the family, simultaneously, in a single run without generating any of the variants explicitly. They are also known as lifted or family-based an......For program families (Software Product Lines), specially designed variability-aware static (dataflow) analyses allow analyzing all variants (products) of the family, simultaneously, in a single run without generating any of the variants explicitly. They are also known as lifted or family......) and reduce it to something more tractable. % by manipulating the configuration space of the family. However, the number of possible abstractions is still intractably large to search naively, with most abstractions being too imprecise or too costly. In this work, we propose a technique to efficiently find...... suitable variability abstractions from a large family of abstractions for a variability-aware static analysis. The idea is to use a pre-analysis to estimate the impact of variability-specific parts of the program family on the analysis's precision. Then we use the pre-analysis results to find out when...

  16. Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent

    DEFF Research Database (Denmark)

    Warny, Marie; Lausen, Birgitte; Birgens, Henrik

    2015-01-01

    We report a term male infant born to parents of Danish descent, who on the second day of life developed jaundice peaking at 67 hours and decreasing on applied double-sided phototherapy. In the weeks following, the infant showed signs of ongoing hemolysis. Laboratory tests showed very low glucose-...

  17. Panel Analysis of Approaches to Family Therapy.

    Science.gov (United States)

    Palisi, Anthony T.; Ruzicka, Mary F.

    1981-01-01

    Describes Cattell's model as inclusive of the work of family therapists of all orientations. The model defines groups as having interrelated aspects, and all variables related to group phenomena as fitting into three panels: population traits, characteristics of internal structure, and syntality traits. Suggests model gives uniformity to field.…

  18. Rare variant detection using family-based sequencing analysis.

    Science.gov (United States)

    Peng, Gang; Fan, Yu; Palculict, Timothy B; Shen, Peidong; Ruteshouser, E Cristy; Chi, Aung-Kyaw; Davis, Ronald W; Huff, Vicki; Scharfe, Curt; Wang, Wenyi

    2013-03-05

    Next-generation sequencing is revolutionizing genomic analysis, but this analysis can be compromised by high rates of missing true variants. To develop a robust statistical method capable of identifying variants that would otherwise not be called, we conducted sequence data simulations and both whole-genome and targeted sequencing data analysis of 28 families. Our method (Family-Based Sequencing Program, FamSeq) integrates Mendelian transmission information and raw sequencing reads. Sequence analysis using FamSeq reduced the number of false negative variants by 14-33% as assessed by HapMap sample genotype confirmation. In a large family affected with Wilms tumor, 84% of variants uniquely identified by FamSeq were confirmed by Sanger sequencing. In children with early-onset neurodevelopmental disorders from 26 families, de novo variant calls in disease candidate genes were corrected by FamSeq as mendelian variants, and the number of uniquely identified variants in affected individuals increased proportionally as additional family members were included in the analysis. To gain insight into maximizing variant detection, we studied factors impacting actual improvements of family-based calling, including pedigree structure, allele frequency (common vs. rare variants), prior settings of minor allele frequency, sequence signal-to-noise ratio, and coverage depth (∼20× to >200×). These data will help guide the design, analysis, and interpretation of family-based sequencing studies to improve the ability to identify new disease-associated genes.

  19. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome.

    Science.gov (United States)

    Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario; Rojas-Villarraga, Adriana; Anaya, Juan-Manuel

    2015-01-01

    Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

  20. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

    Directory of Open Access Journals (Sweden)

    John Castiblanco

    2015-01-01

    Full Text Available Studies documenting increased risk of developing autoimmune diseases (ADs have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology. This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

  1. Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

    Science.gov (United States)

    Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario; Rojas-Villarraga, Adriana; Anaya, Juan-Manuel

    2015-01-01

    Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity. PMID:26697508

  2. Path Analysis: A Link between Family Theory and Reseach.

    Science.gov (United States)

    Rank, Mark R.; Sabatelli, Ronald M.

    This paper discusses path analysis and the applicability of this methodology to the field of family studies. The statistical assumptions made in path analysis are presented along with a description of the two types of models within path analysis, i.e., recursive and non-recursive. Methods of calculating in the path model and the advantages of…

  3. Family Over Rules? An Ethical Analysis of Allowing Families to Overrule Donation Intentions.

    Science.gov (United States)

    Shaw, David; Georgieva, Denie; Haase, Bernadette; Gardiner, Dale; Lewis, Penney; Jansen, Nichon; Wind, Tineke; Samuel, Undine; McDonald, Maryon; Ploeg, Rutger

    2017-03-01

    Millions of people want to donate their organs after they die for transplantation, and many of them have registered their wish to do so or told their family and friends about their decision. For most of them, however, this wish is unlikely to be fulfilled, as only a small number of deaths (1% in the United Kingdom) occur in circumstances where the opportunity to donate organs is possible. Even for those who do die in the "right" way and have recorded their wishes or live in a jurisdiction with a "presumed consent" system, donation often does not go ahead because of another issue: their families refuse to allow donation to proceed. In some jurisdictions, the rate of "family overrule" is over 10%. In this article, we provide a systematic ethical analysis of the family overrule of donation of solid organs by deceased patients, and examine arguments both in favor of and against allowing relatives to "veto" the potential donor's intentions. First, we provide a brief review of the different consent systems in various European countries, and the ramifications for family overrule. Next, we describe and discuss the arguments in favor of permitting donation intentions to be overruled, and then the arguments against doing so. The "pro" arguments are: overrule minimises family distress and staff stress; families need to cooperate for donation to take place; families might have evidence regarding refusal; and failure to permit overrules could weaken trust in the donation system. The "con" arguments are: overrule violates the patient's wishes; the family is too distressed and will regret the decision; overruling harms other patients; and regulations prohibit overrule. We conclude with a general discussion and recommendations for dealing with families who wish to overrule donation. Overall, overrule should only rarely be permitted.

  4. Stability Analysis and Design of Impulsive Control Lorenz Systems Family

    Institute of Scientific and Technical Information of China (English)

    YU Yong-Bin; ZHANG Hong-Bin; ZHANG Feng-Li; YU Jue-Bang; LIAO Xiao-Feng

    2009-01-01

    Lorenz systems family unifying Lorenz system, Chen system and Lu system is a typical chaotic family.In this paper, we consider impulsive control Lorenz chaotic systems family with time-varying impulse intervals. By establishing an effective tool of a set of inequalities, we analyze the asymptotic stability of impulsive control Lorenz systems family and obtain some new less conservative conditions. Based on the stability analysis, we design a novel impulsive controller with time-varying impulse intervals. Illustrative examples are provided to show the feasibility and effectiveness of our method. The obtained results not only can be used to design impulsive control for Lorenz systems family, but also can be extended to other chaotic systems.

  5. Caring for family caregivers: An analysis of a family-centered intervention

    Directory of Open Access Journals (Sweden)

    Carme Ferré-Grau

    2014-08-01

    Full Text Available Objective To assess the effectiveness of Problem-Solving Therapy (PST on family caregivers through the use of scales to measure anxiety, depression and emotional distress; and to explore facilitating factors and obstacles for its use based on the narrative of nurses. Method A clinical trial and an exploratory focus group with the use of mixed analysis methodology. The study was conducted in a primary health care center in Tarragona, Spain, and the sample consisted of 122 family caregivers who were included in the home care service, and 10 nurses who participated in the intervention group. Family caregivers with evident symptoms of anxiety, depression and emotional distress received PST in the intervention group. The intervention group also consisted of a discussion with eight nurses, which was transcribed and submitted to content analysis. Conclusion Problem-Solving Therapy proved to be effective in reducing perceived anxiety, depression and emotional distress. We identified its strong points and obstacles as described by nurses.

  6. FRAXE mutation analysis in three Spanish families

    Energy Technology Data Exchange (ETDEWEB)

    Carbonell, P.; Lopez, I.; Gabarron, J. [Centro de Bioquimica y Genetica Clinica, Murcia (Spain)] [and others

    1996-08-09

    Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotype/cytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA from a retarded male carrier with a handicapped daughter expressing fragility at the FRAXE locus. Mental status in FRAXE individuals is highly variable and, although mild mental retardation is observed in most cases, several carrier males are apparently normal. It seems that methylation is not as strictly associated with size of CGG triplets in the FRAXE locus as in FRAXA, and it is possible that normal carrier individuals with fully methylated increments in lymphocytes have a certain proportion of unmethylated alleles in the critical (i.e., neural) tissues. FRAXE mutation is apparently similar to FRAXA in that males with somatic large methylated increments are carriers of small unmethylated ones in germinal cells. 12 refs., 2 figs., 1 tab.

  7. Reliability Sensitivity Analysis for Location Scale Family

    Institute of Scientific and Technical Information of China (English)

    洪东跑; 张海瑞

    2011-01-01

    Many products always operate under various complex environment conditions. To describe the dynamic influence of environment factors on their reliability, a method of reliability sensitivity analysis is proposed. In this method, the location parameter is assumed as a function of relevant environment variables while the scale parameter is assumed as an un- known positive constant. Then, the location parameter function is constructed by using the method of radial basis function. Using the varied environment test data, the log-likelihood function is transformed to a generalized linear expression by de- scribing the indicator as Poisson variable. With the generalized linear model, the maximum likelihood estimations of the model coefficients are obtained. With the reliability model, the reliability sensitivity is obtained. An instance analysis shows that the method is feasible to analyze the dynamic variety characters of reliability along with environment factors and is straightforward for engineering application.

  8. Strategic Analysis of Family Support in EHDI Systems

    Science.gov (United States)

    Bradham, Tamala S.; Houston, K. Todd; Guignard, Gayla Hutsell; Hoffman, Jeff

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that examined 12 areas within state EHDI programs. For the family support area, 47 EHDI coordinators listed 255 items, and themes were identified within each category. A threats,…

  9. Improving Family Forest Knowledge Transfer through Social Network Analysis

    Science.gov (United States)

    Gorczyca, Erika L.; Lyons, Patrick W.; Leahy, Jessica E.; Johnson, Teresa R.; Straub, Crista L.

    2012-01-01

    To better engage Maine's family forest landowners our study used social network analysis: a computational social science method for identifying stakeholders, evaluating models of engagement, and targeting areas for enhanced partnerships. Interviews with researchers associated with a research center were conducted to identify how social network…

  10. Strategic Analysis of Family Support in EHDI Systems

    Science.gov (United States)

    Bradham, Tamala S.; Houston, K. Todd; Guignard, Gayla Hutsell; Hoffman, Jeff

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that examined 12 areas within state EHDI programs. For the family support area, 47 EHDI coordinators listed 255 items, and themes were identified within each category. A threats,…

  11. ANOVA like analysis for structured families of stochastic matrices

    Science.gov (United States)

    Dias, Cristina; Santos, Carla; Varadinov, Maria; Mexia, João T.

    2016-12-01

    Symmetric stochastic matrices width a width a dominant eigenvalue λ and the corresponding eigenvector α appears in many applications. Such matrices can be written as M =λ α αt+E¯. Thus β = λ α will be the structure vector. When the matrices in such families correspond to the treatments of a base design we can carry out a ANOVA like analysis of the action of the treatments in the model on the structured vectors. This analysis can be transversal-when we worked width homologous components and - longitudinal when we consider contrast on the components of each structure vector. The analysis will be briefly considered at the end of our presentation.

  12. Pharmacist educators in family medicine residency programs: A qualitative analysis

    Directory of Open Access Journals (Sweden)

    Jorgenson Derek

    2012-08-01

    Full Text Available Abstract Background 25-29% of North American family medicine residency programs utilize a pharmacist to teach residents. Little is known about the impact that these pharmacist educators have on residency training. The purpose of this study was to examine the experiences of residents, residency directors and pharmacists within Canadian family medicine residency programs that employ a pharmacist educator to better understand the impact of the role. Methods Recruitment from three cohorts (residents, residency directors, pharmacists within family medicine residency programs across Canada for one-on-one semi-structured interviews followed by thematic analysis of anonymized transcript data. Results 11 residents, 6 residency directors and 17 pharmacist educators participated in interviews. Data themes were: (1 strong value of the teaching with respect to improved resident knowledge, confidence and patient care delivery; (2 lack of a formal pharmacotherapy curriculum; (3 desire for expansion of pharmacist teaching; (4 impact of teaching on collaboration; (5 impact of teaching on residency program faculty; and (6 lack of criticism of the role. Conclusions The pharmacist educator role is valued within residency programs across Canada and the role has a positive impact on several important aspects of family medicine resident training. Suggestions for improvement focused on expanding the teaching role and on implementing a formal curriculum for pharmacist educators to follow.

  13. Genome-Wide Linkage Analysis for Loci Affecting Pulse Pressure: The Family Blood Pressure Program

    National Research Council Canada - National Science Library

    Bielinski, Suzette J; Lynch, Amy I; Miller, Michael B; Weder, Alan; Cooper, Richard; Oberman, Albert; Chen, Yii-Der Ida; Turner, Stephen T; Fornage, Myriam; Province, Michael; Arnett, Donna K

    2005-01-01

    ... in sequential oligogenic linkage analysis routines. The analysis sample included 10 798 participants in 3320 families who were recruited as part of the Family Blood Pressure Program and were phenotyped with an oscillometric blood pressure measurement...

  14. Global Family Concerns and the Role of Family Life Education: An Ecosystemic Analysis

    Science.gov (United States)

    Darling, Carol A.; Turkki, Kaija

    2009-01-01

    We surveyed colleagues from 4 international professional organizations involved with families in order to examine global family concerns and the role of family life education from an ecosystemic perspective. Our sample represented 6 continents and 50 countries. Survey results indicated that family education and related coursework were available in…

  15. Expression analysis of TALE family transcription factors during avian development.

    Science.gov (United States)

    Coy, Sarah E; Borycki, Anne-Gaëlle

    2010-04-01

    The TALE family of homeodomain containing transcription factors consists of the Meis, Prep and Tgif, and the Pbx subfamily of proteins. Several TALE orthologues have been identified in amniotes, but no comprehensive analysis of their expression pattern during embryogenesis has been performed. Here, we report on TALE gene expression in the avian embryo. During embryonic development, Pbx genes are predominantly expressed in the neural ectoderm and paraxial mesoderm, although Pbx3 is restricted to the intermediate and lateral mesoderm, and anterior central nervous system. Members of the Meis, Prep, and Tgif subfamilies are expressed at high levels in the paraxial mesoderm, and display differential expression along the anterior-posterior and dorsoventral axes of the developing neural tube. Overall the expression patterns reported in this study are consistent with the known function of the TALE gene family in controlling early patterning of limb, neural tube and paraxial mesoderm tissues during embryogenesis.

  16. Genome-wide analysis of TCP family in tobacco.

    Science.gov (United States)

    Chen, L; Chen, Y Q; Ding, A M; Chen, H; Xia, F; Wang, W F; Sun, Y H

    2016-05-23

    The TCP family is a transcription factor family, members of which are extensively involved in plant growth and development as well as in signal transduction in the response against many physiological and biochemical stimuli. In the present study, 61 TCP genes were identified in tobacco (Nicotiana tabacum) genome. Bioinformatic methods were employed for predicting and analyzing the gene structure, gene expression, phylogenetic analysis, and conserved domains of TCP proteins in tobacco. The 61 NtTCP genes were divided into three diverse groups, based on the division of TCP genes in tomato and Arabidopsis, and the results of the conserved domain and sequence analyses further confirmed the classification of the NtTCP genes. The expression pattern of NtTCP also demonstrated that majority of these genes play important roles in all the tissues, while some special genes exercise their functions only in specific tissues. In brief, the comprehensive and thorough study of the TCP family in other plants provides sufficient resources for studying the structure and functions of TCPs in tobacco.

  17. Exploiting gene families for phylogenomic analysis of myzostomid transcriptome data.

    Directory of Open Access Journals (Sweden)

    Stefanie Hartmann

    Full Text Available BACKGROUND: In trying to understand the evolutionary relationships of organisms, the current flood of sequence data offers great opportunities, but also reveals new challenges with regard to data quality, the selection of data for subsequent analysis, and the automation of steps that were once done manually for single-gene analyses. Even though genome or transcriptome data is available for representatives of most bilaterian phyla, some enigmatic taxa still have an uncertain position in the animal tree of life. This is especially true for myzostomids, a group of symbiotic (or parasitic protostomes that are either placed with annelids or flatworms. METHODOLOGY: Based on similarity criteria, Illumina-based transcriptome sequences of one myzostomid were compared to protein sequences of one additional myzostomid and 29 reference metazoa and clustered into gene families. These families were then used to investigate the phylogenetic position of Myzostomida using different approaches: Alignments of 989 sequence families were concatenated, and the resulting superalignment was analyzed under a Maximum Likelihood criterion. We also used all 1,878 gene trees with at least one myzostomid sequence for a supertree approach: the individual gene trees were computed and then reconciled into a species tree using gene tree parsimony. CONCLUSIONS: Superalignments require strictly orthologous genes, and both the gene selection and the widely varying amount of data available for different taxa in our dataset may cause anomalous placements and low bootstrap support. In contrast, gene tree parsimony is designed to accommodate multilocus gene families and therefore allows a much more comprehensive data set to be analyzed. Results of this supertree approach showed a well-resolved phylogeny, in which myzostomids were part of the annelid radiation, and major bilaterian taxa were found to be monophyletic.

  18. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa

    Directory of Open Access Journals (Sweden)

    Balgir R

    2007-01-01

    Full Text Available Background: The β -thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people. Aims and Objectives: There is an equal probability (50% chance in every singleton pregnancy that a carrier parent of β -thalassemia major would either bear normal or carrier offspring, but not two offspring with carrier of β -thalassemia major genotype together. For the first time, a carrier parent of β -thalassemia major gene has born progeny (three daughters and a twin male offspring with a carrier status of β -thalassemia major in Dudh Kharia tribal family studied from Sundargarh district of Orissa. Materials and Methods: We screened randomly selected population of Dudh Kharia tribe from Sundargarh district of Orissa for hemoglobinopathies to assess the extent of the problem, design possible interventions and provide genetic counseling to them. A family with twin children was identified during screening in Lata Gaon in Bargaon block of Sundargarh district of Orissa for the above-mentioned study. Background information for this family such as name, age, sex, tribe, native place, reproductive history, family pedigree and clinical signs and symptoms were also recorded. Standardized genetic and hematological procedures and techniques were followed for analysis. Results: Laboratory investigations for alkaline electrophoresis of blood lysate on cellulose acetate membrane showed raised hemoglobin A 2 level in mother (Hb A 2 = 5.3%, in three daughters (Hb A 2 =6.5, 5.9, 5.5% in chronological and birth order, in two twin sons (Hb A 2 =5.9% and 6.0% and normal (Hb A 2 = 3.3% for father. Hence, all the children i.e., three daughters and two twin sons, including the mother were β -thalassemia carriers. Since all the hematological parameters i.e., red cell indices, G-6-PD enzyme activity, ABO and Rhesus blood groups and

  19. An Analysis of Adult-Child Conversation Patterns in Diverse African American Families.

    Science.gov (United States)

    Tolson, Timothy F. J.; And Others

    1995-01-01

    Examines familial conversation patterns of African American families during evening meals, using a social interaction analysis. Found that family size had a pervasive impact on familial interaction, and that although mothers were the clear focus of mealtime interactions, the increased number of children necessitated that fathers take a more direct…

  20. Bioinformatics Analysis of MAPKKK Family Genes in Medicago truncatula

    Science.gov (United States)

    Li, Wei; Xu, Hanyun; Liu, Ying; Song, Lili; Guo, Changhong; Shu, Yongjun

    2016-01-01

    Mitogen-activated protein kinase kinase kinase (MAPKKK) is a component of the MAPK cascade pathway that plays an important role in plant growth, development, and response to abiotic stress, the functions of which have been well characterized in several plant species, such as Arabidopsis, rice, and maize. In this study, we performed genome-wide and systemic bioinformatics analysis of MAPKKK family genes in Medicago truncatula. In total, there were 73 MAPKKK family members identified by search of homologs, and they were classified into three subfamilies, MEKK, ZIK, and RAF. Based on the genomic duplication function, 72 MtMAPKKK genes were located throughout all chromosomes, but they cluster in different chromosomes. Using microarray data and high-throughput sequencing-data, we assessed their expression profiles in growth and development processes; these results provided evidence for exploring their important functions in developmental regulation, especially in the nodulation process. Furthermore, we investigated their expression in abiotic stresses by RNA-seq, which confirmed their critical roles in signal transduction and regulation processes under stress. In summary, our genome-wide, systemic characterization and expressional analysis of MtMAPKKK genes will provide insights that will be useful for characterizing the molecular functions of these genes in M. truncatula. PMID:27049397

  1. PipeAlign: A new toolkit for protein family analysis.

    Science.gov (United States)

    Plewniak, Frédéric; Bianchetti, Laurent; Brelivet, Yann; Carles, Annaick; Chalmel, Frédéric; Lecompte, Odile; Mochel, Thiebaut; Moulinier, Luc; Muller, Arnaud; Muller, Jean; Prigent, Veronique; Ripp, Raymond; Thierry, Jean-Claude; Thompson, Julie D; Wicker, Nicolas; Poch, Olivier

    2003-07-01

    PipeAlign is a protein family analysis tool integrating a five step process ranging from the search for sequence homologues in protein and 3D structure databases to the definition of the hierarchical relationships within and between subfamilies. The complete, automatic pipeline takes a single sequence or a set of sequences as input and constructs a high-quality, validated MACS (multiple alignment of complete sequences) in which sequences are clustered into potential functional subgroups. For the more experienced user, the PipeAlign server also provides numerous options to run only a part of the analysis, with the possibility to modify the default parameters of each software module. For example, the user can choose to enter an existing multiple sequence alignment for refinement, validation and subsequent clustering of the sequences. The aim is to provide an interactive workbench for the validation, integration and presentation of a protein family, not only at the sequence level, but also at the structural and functional levels. PipeAlign is available at http://igbmc.u-strasbg.fr/PipeAlign/.

  2. Bioinformatics Analysis of MAPKKK Family Genes in Medicago truncatula

    Directory of Open Access Journals (Sweden)

    Wei Li

    2016-04-01

    Full Text Available Mitogen‐activated protein kinase kinase kinase (MAPKKK is a component of the MAPK cascade pathway that plays an important role in plant growth, development, and response to abiotic stress, the functions of which have been well characterized in several plant species, such as Arabidopsis, rice, and maize. In this study, we performed genome‐wide and systemic bioinformatics analysis of MAPKKK family genes in Medicago truncatula. In total, there were 73 MAPKKK family members identified by search of homologs, and they were classified into three subfamilies, MEKK, ZIK, and RAF. Based on the genomic duplication function, 72 MtMAPKKK genes were located throughout all chromosomes, but they cluster in different chromosomes. Using microarray data and high‐throughput sequencing‐data, we assessed their expression profiles in growth and development processes; these results provided evidence for exploring their important functions in developmental regulation, especially in the nodulation process. Furthermore, we investigated their expression in abiotic stresses by RNA‐seq, which confirmed their critical roles in signal transduction and regulation processes under stress. In summary, our genome‐wide, systemic characterization and expressional analysis of MtMAPKKK genes will provide insights that will be useful for characterizing the molecular functions of these genes in M. truncatula.

  3. The distinction of 'psychosomatogenic family types' based on parents' self reported questionnaire information: a cluster analysis.

    Science.gov (United States)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    2014-06-01

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of 12-year olds (n = 1428). We performed cluster analysis on 3 variables concerning parents' self-reported problems in family functioning. The distinguished clusters were examined for differences in marital problems, parental emotional problems, professional help for family members, demographics, and adolescents' somatization. Results showed the existence of 5 family types: 'chaotic family functioning,' 'average amount of family functioning problems,' 'few family functioning problems,' 'high amount of support and communication problems,' and 'high amount of sense of security problems' clusters. Membership of the 'chaotic family functioning' and 'average amount of family functioning problems' cluster was significantly associated with higher levels of somatization, compared with 'few family functioning problems' cluster membership. Among additional variables, only marital and parental emotional problems distinguished somatization relevant from non relevant clusters: parents in 'average amount of family functioning problems' and 'chaotic family functioning' clusters reported higher problems. The data showed that 'apparently perfect' or 'enmeshed' patterns of family functioning may not be assessed by means of parent report as adopted in this study. In addition, not only adolescents from 'extreme' types of family functioning may suffer from somatization. Further, professionals should be careful assuming that families in which parents report average to high amounts of family functioning problems also show different demographic characteristics.

  4. Molecular analysis of precursor lesions in familial pancreatic cancer.

    Directory of Open Access Journals (Sweden)

    Tatjana Crnogorac-Jurcevic

    Full Text Available BACKGROUND: With less than a 5% survival rate pancreatic adenocarcinoma (PDAC is almost uniformly lethal. In order to make a significant impact on survival of patients with this malignancy, it is necessary to diagnose the disease early, when curative surgery is still possible. Detailed knowledge of the natural history of the disease and molecular events leading to its progression is therefore critical. METHODS AND FINDINGS: We have analysed the precursor lesions, PanINs, from prophylactic pancreatectomy specimens of patients from four different kindreds with high risk of familial pancreatic cancer who were treated for histologically proven PanIN-2/3. Thus, the material was procured before pancreatic cancer has developed, rather than from PanINs in a tissue field that already contains cancer. Genome-wide transcriptional profiling using such unique specimens was performed. Bulk frozen sections displaying the most extensive but not microdissected PanIN-2/3 lesions were used in order to obtain the holistic view of both the precursor lesions and their microenvironment. A panel of 76 commonly dysregulated genes that underlie neoplastic progression from normal pancreas to PanINs and PDAC were identified. In addition to shared genes some differences between the PanINs of individual families as well as between the PanINs and PDACs were also seen. This was particularly pronounced in the stromal and immune responses. CONCLUSIONS: Our comprehensive analysis of precursor lesions without the invasive component provides the definitive molecular proof that PanIN lesions beget cancer from a molecular standpoint. We demonstrate the need for accumulation of transcriptomic changes during the progression of PanIN to PDAC, both in the epithelium and in the surrounding stroma. An identified 76-gene signature of PDAC progression presents a rich candidate pool for the development of early diagnostic and/or surveillance markers as well as potential novel preventive

  5. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

    Science.gov (United States)

    Cittadella, R; Civitelli, D; Manna, I; Azzia, N; Di Cataldo, A; Schilirò, G; Brancati, C

    1997-05-01

    In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in south-east Sicily, we have analysed the G6PD gene in 25 unrelated males with abnormal G6PD activity and/or electrophoretic mobility, by using the analysis of the appropriate PCR-amplified fragment of DNA and subsequent digestion by appropriate restriction-enzymes, looking for the presence of certain known G6PD mutations. We amplified the entire G6PD coding sequence into eight fragments, followed by single-strand conformation polymorphism (SSCP) analysis and sequencing of those individual fragments that were found to be abnormal by SSCP. Through these methods we found a total of twelve G6PD Mediterranean variants with the association of a silent mutation 1311 (also known as polymorphic site Bcl I), one G6PD Mediterranean without this association, four G6PD A-Val 68 and two G6PD Santamaria and five G6PD Chatham. In a subject with normal activity a mutation was found in exon 5, designated as G6PD Sao Borja. This is the first report on the molecular analysis of G6PD mutations in Sicily and we have obtained evidence for four distinct classes of variants.

  6. Hmong Students’ Perceptions of Their Family Environment: A Consensual Qualitative Analysis of Family Photos

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    Dung Mao

    2012-01-01

    Full Text Available Although various studies have examined the home environment of low-income families and its impact on children’s development, limited research has been done to investigate the impact of home environment on Hmong American families, especially those who live below the federal poverty line. The purpose of this study was to document from the students’ perspective what it is like to live and grow up in a poor family. Fifteen Hmong students in 5th through 8th grades tookpart in the photovoice project. The consensual qualitative analyses of the photos and interviews revealed two domains (family physical home environment and family activities, seven themes (crowded space, unkempt space, equipped with media, generational and gender separation, parental involvement, organization of daily life, and social connections and 38 core ideas. Some implications of the study are proposed for educators who work with Hmong families.

  7. Uchi Mata family analysis for Coaches and Teachers

    CERN Document Server

    Sacripanti, Attilio

    2016-01-01

    In this paper it is performed the biomechanical analysis of Uchi Mata family, the unifying vision of biomechanics let coaches and teachers to approach competition and lessons in different way. Uchi Mata and all throws that are in the biomechanical group of Couple applied by trunk - leg showed that these most effective techniques in high level competition, are in fact also energetically less expensive than those of the Lever group. The overview of the sportive judo books that show the different kind of Uchi Mata, for example, are in term of Biomechanics always the same movement. The Japanese different vision informed also the studies among the world that never analyzed the unifying vision. The complementary tools to increase the effectiveness are also analyzed and few New or Chaotic application of trunk-leg family. The Physical and biomechanical background is analyzed showing that these throws are also bio-mechanically simpler, relying only on closing the distance and apply Couple . GAI plus Couple. Their intr...

  8. Relation between Eating Disorder Tendency and Family Relationships in Adolescence : Quantitative Analysis of EDI-91 and Kinetic Family Drawings

    OpenAIRE

    奥田, 紗史美

    2007-01-01

    Tendency for developing eating disorders and the family relationships of adolescents was investigated. The Eating Disorder Questionnaire-91 (EDI-91) was administered to non-clinical, adolescent men and women, and the characteristics of their EDI-91 scores were examined. Moreover, the link between the tendency for eating disorders and family relationships were clarified. Results of factor analysis of EDI-91 scores suggested a 10-factor structure. The results also confirmed the reliability of t...

  9. Bioinformatic analysis of the CLE signaling peptide family

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    Weiller Georg F

    2008-01-01

    Full Text Available Abstract Background Plants encode a large number of leucine-rich repeat receptor-like kinases. Legumes encode several LRR-RLK linked to the process of root nodule formation, the ligands of which are unknown. To identify ligands for these receptors, we used a combination of profile hidden Markov models and position-specific iterative BLAST, allowing us to detect new members of the CLV3/ESR (CLE protein family from publicly available sequence databases. Results We identified 114 new members of the CLE protein family from various plant species, as well as five protein sequences containing multiple CLE domains. We were able to cluster the CLE domain proteins into 13 distinct groups based on their pairwise similarities in the primary CLE motif. In addition, we identified secondary motifs that coincide with our sequence clusters. The groupings based on the CLE motifs correlate with known biological functions of CLE signaling peptides and are analogous to groupings based on phylogenetic analysis and ectopic overexpression studies. We tested the biological function of two of the predicted CLE signaling peptides in the legume Medicago truncatula. These peptides inhibit the activity of the root apical and lateral root meristems in a manner consistent with our functional predictions based on other CLE signaling peptides clustering in the same groups. Conclusion Our analysis provides an identification and classification of a large number of novel potential CLE signaling peptides. The additional motifs we found could lead to future discovery of recognition sites for processing peptidases as well as predictions for receptor binding specificity.

  10. A retrospective analysis of 7 cases of familial mediterranean fever.

    Science.gov (United States)

    Ogita, Chie; Matsui, Kiyoshi; Kisida, Dai; Yazaki, Masahide; Nakamura, Akinori; Kaku, Satosi; Makino, Hidehiko; Tadokoro, Rei; Azuma, Kouta; Tsuboi, Kazuyuki; Tani, Mei; Tamura, Masao; Yoshikawa, Takahiro; Morimoto, Mai; Nishioka, Aki; Sekiguchi, Masahiro; Azuma, Naoto; Kitano, Masayasu; Tsunoda, Shinichiro; Sawai, Hideaki; Sano, Hajime

    2017-01-01

    Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time. We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis. Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective. In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.

  11. A meta-analysis of intensive family preservation programs: placement prevention and improvement of family functioning

    NARCIS (Netherlands)

    Al, C.M.W.; Stams, G.J.J.M.; Bek, M.S.; Damen, E.M.; Asscher, J.J.; van der Laan, P.H.

    2012-01-01

    The aims of the present study were, first, to establish the effect of brief, in-home intensive family preservation programs on prevention of out-of-home placement, family functioning, child behavior problems and social support and, second, to study moderators of these effects. The results of this me

  12. Family dynamics and self-injury behaviors: a correlation analysis.

    Science.gov (United States)

    Halstead, Ruth Ogden; Pavkov, Thomas W; Hecker, Lorna L; Seliner, Michelle M

    2014-04-01

    This study tested the relationship between family dynamics and self-injury. A total of 189 participants responded to a web-based survey collecting information related to previous self-injury behaviors and family dynamics. Participants were over 18 years old who had used self-injury (intentionally harming themselves physically to relieve painful emotions without suicidal intent), but who had not used self-injury for over a year. Results indicated that healthy family dynamics were negatively correlated and associated with higher scores of self-injury behaviors. This study offers some evidence that family dynamics influence self-injury behaviors. The implications for family therapy are discussed.

  13. Familial Sarcoidosis: An Analysis of Twenty-Eight Cases

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    Dildar Duman

    2016-12-01

    Full Text Available Objective: Sarcoidosis is a multisystemic disease, exact cause of disease is unknown but it is assumed that genetic predisposition and ethnic factors play a role in etiology. Studies related with familial sarcoidosis is limited and only case reports about familial sarcoidosis is available from our country. We aimed to evaluate the prevelance of familial sarcoidosis and clinical findings of cases with familial sarcoidosis. Methods: We retrospectively documented file records of 678 patients diagnosed with sarcoidosis and followed up in outpatient clinic of sarcoidosis from January 1996 to February 2016. 28 familial sarcoidosis cases in 14 families were enrolled into the study. Their demographic findings, family relationship, symptoms, laboratory and pulmonary function test results, radiological apperances, diagnostic methods, treatments were recorded. Results: Twenty-eight sarcoidosis patients out of 678 reported as familial cases, giving a prevelance of familial sarcoidosis as 4%. There were 8 sarcoidosis sib, 4 sarcoidosis mother-child, 1 sarcoidosis father-child and 1 sarcoidosis cousin relationship. Female/male ratio was 1.8, mean age of the study population was 43, most freguent symptoms were cough and dyspnea, stage 2 was mostly seen according to chest X-ray, most common CT appearance was mediastinal lymphadenopathy and mediastinoscopy was the most freguent diagnostic method. Conclusion: This study is important to lead interrogation of family in patients with suspected sarcoidosis and future studies investigating familial aggregation in sarcoidosis.

  14. Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

    Science.gov (United States)

    He, Ya-Chao; Huang, Pei; Li, Qiong-Qiong; Sun, Qian; Li, Dun-Hui; Wang, Tian; Shen, Jun-Yi; Du, Juan-Juan; Cui, Shi-Shuang; Gao, Chao; Fu, Rao; Chen, Sheng-Di

    2017-01-01

    Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that HTRA2 p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition of HTRA2 gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor. Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. HTRA2 exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, and HTRA2 may not be the cause of familial Parkinson's disease and essential tremor in China.

  15. Broad scan linkage analysis in a large Tourette family pedigree

    Energy Technology Data Exchange (ETDEWEB)

    Peiffer, A.; Leppert, M. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States); Wetering, B.J.M. van der [Univ. Hospital Rotterdam (Netherlands)

    1994-09-01

    Attempts to find a gene causing Tourette syndrome (TS) using linkage analysis have been unsuccessful even though as much as 65% of the autosomal genetic map has been excluded by the pooled results from several laboratories collaborating worldwide. One reason for this failure may be the misclassification of affection status of marry-in spouses. Specifically, we have found that six unrelated spouses in our Utah TS pedigree suffer from TS, obsessive-compulsive disorder or chronic motor tics. In light of these findings we decided to conduct a complete genomic scan from this Utah kindred with polymorphic markers in three related sibships in which there was no assortative mating. A linkage study assuming autosomal dominant inheritance was done using tetranucleotide repeat markers developed at the University of Utah. We selected markers that were less than 300 bp in size and that gave a heterozygosity of over 70% upon analysis in 4 CEPH families. Results to date with 95 markers run at an interval of 30 cM (covering 61% of the genome) show no evidence of linkage. We intend to extend the coverage to 100% of the genome. Pending completion of this scan, failure to provide evidence of linkage in our TS pedigree might then be attributed to phenotypic misclassification or erroneous assumptions regarding the genetic model of transmission.

  16. Parent-Child Interaction in Nigerian Families: Conversation Analysis, Context and Culture

    Science.gov (United States)

    Burns, Annabel; Radford, Julie

    2008-01-01

    This paper uses a conversation analysis (CA) approach to explore parent-child interaction (PCI) within Nigerian families. We illustrate how speech and language therapists (SLTs), by using CA, can tailor recommendations according to the interactional style of each individual family that are consonant with the family's cultural beliefs. Three…

  17. The Impact on Family Functioning of Social Media Use by Depressed Adolescents: A Qualitative Analysis of the Family Options Study.

    Science.gov (United States)

    Lewis, Andrew J; Knight, Tess; Germanov, Galit; Benstead, Michelle Lisa; Joseph, Claire Ingrid; Poole, Lucinda

    2015-01-01

    Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents. The current study draws upon data collected from parents within the family options randomized controlled trial that examined family based interventions for adolescent depression (12-18 years old) in Melbourne, Australia (2012-2014). Inclusion in the trial required adolescents to meet diagnostic criteria for a major depressive disorder via the Structured Clinical Interview for DSM-IV Childhood Disorders. The transcripts of sessions were examined using qualitative thematic analysis. The transcribed sessions consisted of 56 h of recordings in total from 39 parents who took part in the interventions. The thematic analysis explored parental perceptions of their adolescent's use of social media (SM) and access to Internet content, focusing on the possible relationship between adolescent Internet use and the adolescent's depressive disorder. Two overarching themes emerged as follows: the sense of loss of parental control over the family environment and parents' perceived inability to protect their adolescent from material encountered on the Internet and social interactions via SM. Parents within the context of family based treatments felt that prolonged exposure to SM exposed their already vulnerable child to additional stressors and risks. The thematic analysis uncovered a sense of parental despair and lack of control, which is consistent with their perception of SM and the Internet as relentless and threatening to their parental authority and family cohesion.

  18. The impact on family functioning of social media use by depressed adolescents: a qualitative analysis of the Family Options Study

    Directory of Open Access Journals (Sweden)

    Andrew James Lewis

    2015-09-01

    Full Text Available Background: Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents.Method: The current study draws upon data collected within the Family Options randomized controlled trial that examined family-based interventions for adolescent depression (12-18 years old in Melbourne (2012-2014. Inclusion in the trial required meeting diagnosis for a Major depressive disorder via the Structured Clinical Interview for DSM-IV Childhood Disorders (KID-SCID. The transcripts of sessions from 7 group treatments were examined using qualitative thematic analysis. The transcribed sessions consisted of 56 hours of recordings in total from 39 parents who took part in the interventions.Results: The thematic analysis explored parental perceptions of their adolescent’s use of social media and access to Internet content, focusing on the possible relationship between adolescent Internet use and the adolescent’s depressive disorder. Two overarching themes emerged: The sense of loss of parental control over the family environment, and parents’ perceived inability to protect their adolescent from material encountered on the Internet and social interactions via social media.Conclusions: The excessive use of social media often interacted with cyber-bullying and altered the adolescent’s understanding of friendship. Parents within the context of family based treatments felt that prolonged exposure to social media exposed their already vulnerable child to cyber-bullying. The thematic analysis uncovered a sense of parental despair and lack of control, which is consistent with their perception of social media and the internet as relentless and threatening to their parental authority and family cohesion.

  19. Sustainability Reporting in Family Firms: A Panel Data Analysis

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    Giovanna Gavana

    2016-12-01

    Full Text Available We analyze the largely unexplored differences in sustainability reporting within family businesses using a sample of 230 non-financial Italian listed firms for the period 2004–2013. Drawing on legitimacy theory and stakeholder theory, integrated with the socio-emotional wealth (SEW approach, we study how family control, influence and identification shape a firm’s attitude towards disclosing its social and environmental behavior. Our results suggest that family firms are more sensitive to media exposure than their non-family counterparts and that family control enhances sustainability disclosure when it is associated to a family’s direct influence on the business, by the founder’s presence on the board or by having a family CEO. In cases of indirect influence, without family involvement on the board, the level of family ownership is negatively related to sustainability reporting. On the other hand, a formal identification of the family with the firm by business name does not significantly affect social disclosure.

  20. A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning.

    Science.gov (United States)

    Koehly, Laura M; Peterson, Susan K; Watts, Beatty G; Kempf, Kari K G; Vernon, Sally W; Gritz, Ellen R

    2003-04-01

    Hereditary cancers are relational diseases. A primary focus of research in the past has been the biological relations that exist within the families and how genes are passed along family lines. However, hereditary cancers are relational in a psychosocial sense, as well. They can impact communication relationships within a family, as well as support relationships among family members. Furthermore, the familial culture can affect an individual's participation in genetic counseling and testing endeavors. Our aims are (a) to describe the composition of familial networks, (b) to characterize the patterns of family functioning within families, (c) to analyze how these patterns relate to communications about genetic counseling and testing among family members, and (d) to identify influential family members. Specifically, we asked how the relationship between mutation status, kinship ties, and family functioning constructs, e.g., communication, cohesion, affective involvement, leadership, and conflict, was associated with discussions about genetic counseling and testing. We used social network analysis and random graph techniques to examine 783 dyadic relationships in 36 members of 5 hereditary nonpolyposis colorectal cancer (HNPCC) families interviewed from 1999-2000. Results suggest that in these five HNPCC families, two family members are more likely to discuss genetic counseling and testing if either one carries the mutation, if either one is a spouse or a first-degree relative of the other, or if the relationship is defined by positive cohesion, leadership, or lack of conflict. Furthermore, the family functioning patterns suggest that mothers tend to be the most influential persons in the family network. Results of this study suggest encouraging family members who act in the mother role to take a "team approach" with the family proband when discussing HNPCC risks and management with family members.

  1. IDH Mutation Analysis in Ewing Sarcoma Family Tumors

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    Ki Yong Na

    2015-05-01

    Full Text Available Background: Isocitrate dehydrogenase (IDH catalyzes the oxidative decarboxylation of isocitrate to yield α-ketoglutarate (α-KG with production of reduced nicotinamide adenine dinucleotide (NADH. Dysfunctional IDH leads to reduced production of α-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor α, causing cells to be prone to tumorigenesis. Methods: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs, using a pentose nucleic acid clamping method and direct sequencing. Results: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. Conclusions: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.

  2. Phylogenetic analysis of the Argonaute protein family in platyhelminths.

    Science.gov (United States)

    Zheng, Yadong

    2013-03-01

    Argonaute proteins (AGOs) are mediators of gene silencing via recruitment of small regulatory RNAs to induce translational regression or degradation of targeted molecules. Platyhelminths have been reported to express microRNAs but the diversity of AGOs in the phylum has not been explored. Phylogenetic relationships of members of this protein family were studied using data from six platyhelminth genomes. Phylogenetic analysis showed that all cestode and trematode AGOs, along with some triclad planarian AGOs, were grouped into the Ago subfamily and its novel sister clade, here referred to as Cluster 1. These were very distant from Piwi and Class 3 subfamilies. By contrast, a number of planarian Piwi-like AGOs formed a novel sister clade to the Piwi subfamily. Extensive sequence searching revealed the presence of an additional locus for AGO2 in the cestode Echinococcus granulosus and exon expansion in this species and E. multilocularis. The current study suggests the absence of the Piwi subfamily and Class 3 AGOs in cestodes and trematodes and the Piwi-like AGO expansion in a free-living triclad planarian and the occurrence of exon expansion prior to or during the evolution of the most-recent common ancestor of the Echinococcus species studied.

  3. Analysis of Family Clinical, vision of service nurses

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    Daniele Merisio Raimundi

    2016-06-01

    Full Text Available Objective to know the practice of the Family Clinic in Cuiaba and its relationship with the precepts of the expanded clinic, from the perspective of the service nurses. Method qualitative descriptive research, data collection with semi-structured interviews and results analyzed according to the method of thematic content analysis. Results for nurses working in the service, this assumes a differentiated and innovative proposal, which seeks to correlate with shared management in its three spheres. Although most do not know the Enlarged Clinic term in his speech cited its main principles and its tools. The greatest potential described were related to the Support Center for Health and popular participation, and as challenges, the lack of community health worker, the national health establishment registration and the difficulty of operation due to the profile of the professionals technical level arising from secondary care. Conclusions The clinic has positive aspects that can contribute to the advancement of the profession, to train health professionals and an innovative primary care model. Therefore, it emphasizes the need for implementation of continuing education in order to realize its proposal, and further studies on site.

  4. Teaching Family Communication Concepts through Family Stories: An Analysis of Stories and Rituals in David Bradley's "Harvest Home"

    Science.gov (United States)

    Dixson, Marcia D.

    2006-01-01

    In this activity, students will be able to apply the concepts of stories and rituals to an analysis of the ritual in the short story "Harvest Home" by David Bradley, gaining understanding of how stories and rituals affect and reflect family values, power structures and identities. "Harvest Home" talks about the rituals involved in a…

  5. Work-family enrichment, work-family conflict, and marital satisfaction: A dyadic analysis

    NARCIS (Netherlands)

    Steenbergen, E.F. van; Kluwer, E.S.; Karney, B.R.

    2014-01-01

    This study was designed to examine whether spouses' work-to-family (WF) enrichment experiences account for their own and their partner's marital satisfaction, beyond the effects of WF conflict. Data were collected from both partners of 215 dual-earner couples with children. As hypothesized, structur

  6. Bandagem ajustável do tronco pulmonar: IX: atividade da G6PD do miocárdio de cabras adultas submetido ao treinamento ventricular

    Directory of Open Access Journals (Sweden)

    Renato Samy Assad

    2013-12-01

    Full Text Available OBJETIVO: O aumento da atividade miocárdica da Glicose 6-Fosfato Desidrogenase tem sido demonstrado na insuficiência cardíaca. Este estudo avalia a atividade miocárdica da Glicose 6-Fosfato Desidrogenase no treinamento do ventrículo subpulmonar de cabras adultas. MÉTODOS: Foram utilizadas 18 cabras adultas, divididas em três grupos: convencional (bandagem fixa, sham e intermitente (bandagem ajustável; 12 horas diárias de sobrecarga. A sobrecarga sistólica (70% da pressão sistêmica foi mantida durante quatro semanas. As avaliações hemodinâmica e ecocardiográfica foram realizadas durante todo o estudo. Depois de cumprido o protocolo, os animais foram mortos para avaliação morfológica e da atividade da Glicose 6-Fosfato Desidrogenase dos ventrículos. RESULTADOS: Apesar de haver sobrecarga sistólica proporcionalmente menor no ventrículo subpulmonar do grupo intermitente (P=0,001, ambos os grupos de estudo apresentaram aumento da massa muscular de magnitude similar. Os grupos intermitente e convencional apresentaram aumento da massa de 55,7% e 36,7% (P<0,05, respectivamente, em comparação ao grupo sham. O conteúdo de água do miocárdio não variou entre os grupos estudados (P=0,27. O ecocardiograma demonstrou maior aumento (37,2% na espessura do ventrículo subpulmonar do grupo intermitente, em relação aos grupos sham e convencional (P<0,05. Foi observada maior atividade da Glicose 6-Fosfato Desidrogenase na hipertrofia miocárdica do ventrículo subpulmonar do grupo convencional, comparada aos grupos sham e intermitente (P=0,05. CONCLUSÃO: Ambos os grupos de treinamento ventricular desenvolveram hipertrofia ventricular, a despeito do menor tempo de sobrecarga sistólica no grupo intermitente. A maior atividade de Glicose 6-Fosfato Desidrogenase observada no grupo convencional pode refletir um desequilíbrio redox, com maior produção de fosfato de dinucleotídeo de nicotinamida e adenina e glutationa reduzida, um mecanismo importante da fisiopatologia da insuficiência cardíaca.

  7. Activity of divicine in Plasmodium vinckei-infected mice has implications for treatment of favism and epidemiology of G-6-PD deficiency.

    Science.gov (United States)

    Clark, I A; Cowden, W B; Hunt, N H; Maxwell, L E; Mackie, E J

    1984-07-01

    Intravenous injection of divicine into mice infected with Plasmodium vinckei rapidly killed the parasites and caused haemolysis. Degenerating parasites were observed frequently inside intact circulating erythrocytes, implying that parasite death was not a passive consequence of haemolysis. Both parasite death and haemolysis were prevented by the iron chelator desferrioxamine. In vitro, divicine caused the accumulation of malonyldialdehyde and the depletion of reduced glutathione in normal mouse erythrocytes. Desferrioxamine inhibited the former event, but not the latter. These observations support the hypothesis advanced by Huheey & Martin (Experientia, 31, 1145, 1975) to explain the patchy geographical distribution of glucose-6-phosphate dehydrogenase deficiency in historic malarial areas and also suggest that desferrioxamine, a drug already in clinical use, is a potential treatment for favism and other examples of oxidative haemolysis.

  8. An Analysis of Property Rights in Privately Owned Family Plots

    Institute of Scientific and Technical Information of China (English)

    MengXiangzhong

    2005-01-01

    In the present Chinese system of rural land ownership, family plots still supplement the collectively-owned rural economy. As they occupy a very small proportion of the total amount of arable land, there has been little study of their economic effects; indeed, they have been totally neglected. In the past, under the planned economy, family plots could provide a diversified source of livelihood for Chinese farmers; at present, they have become a “bottleneck” obstructing the further industrialization of the rural economy. First of all, the ownership system for family plots fragments the system of land ownership, hindering the legal circulation of land-use,

  9. System Analysis of New Product Family Development Selection

    Institute of Scientific and Technical Information of China (English)

    ZHANG Kun

    2006-01-01

    This paper presents a new approach to the selection of new product family development. First, the factors are discussed that contribute to the new product family development. Due to the vagueness and uncertain existing in the factors, the fuzzy continue-semantic scale is introduced. Then, the fuzzy analytic hierarchy process (AHP) has been used in weighting the importance of the factors. Next, the fuzzy clustering method is applied to the selection of new product family developments. Lostly, one case is provided to illustrate the proposed approach.

  10. Bioinformatic analysis of the TonB protein family.

    Science.gov (United States)

    Chu, Byron C H; Peacock, R Sean; Vogel, Hans J

    2007-06-01

    TonB is a protein prevalent in a large number of Gram-negative bacteria that is believed to be responsible for the energy transduction component in the import of ferric iron complexes and vitamin B(12) across the outer membrane. We have analyzed all the TonB proteins that are currently contained in the Entrez database and have identified nine different clusters based on its conserved 90-residue C-terminal domain amino acid sequence. The vast majority of the proteins contained a single predicted cytoplasmic transmembrane domain; however, nine of the TonB proteins encompass a approximately 290 amino acid N-terminal extension homologous to the MecR1 protein, which is composed of three additional predicted transmembrane helices. The periplasmic linker region, which is located between the N-terminal domain and the C-terminal domain, is extremely variable both in length (22-283 amino acids) and in proline content, indicating that a Pro-rich domain is not a required feature for all TonB proteins. The secondary structure of the C-terminal domain is found to be well preserved across all families, with the most variable region being between the second alpha-helix and the third beta-strand of the antiparallel beta-sheet. The fourth beta-strand found in the solution structure of the Escherichia coli TonB C-terminal domain is not a well conserved feature in TonB proteins in most of the clusters. Interestingly, several of the TonB proteins contained two C-terminal domains in series. This analysis provides a framework for future structure-function studies of TonB, and it draws attention to the unusual features of several TonB proteins.

  11. Sexual socialization in lesbian-parent families: an exploratory analysis.

    Science.gov (United States)

    Cohen, Rachael; Kuvalanka, Katherine A

    2011-04-01

    Few studies have examined the sexual socialization of children within lesbian-parent families, despite evidence that these children may experience benefits in this regard. Qualitative interviews were conducted with 10 partnered, lesbian mothers to explore what and how participants taught their children about sexuality-related issues. Themes related to what participants taught their children about these topics included diverse notions of sexual orientation and reproduction. Themes related to how participants taught these concepts included tag-teaming with their partners (i.e., participants shared with their partners the task of teaching their children about sexuality-related issues), although differences in how the partners carried out this task were identified. This study demonstrated a diversity of experiences of lesbian-parent families, often seemingly in relation to family contextual factors (e.g., how children were conceived), and has potential implications for family researchers, practitioners, and, perhaps, all parents.

  12. Psychotic disorder and educational achievement : a family-based analysis

    NARCIS (Netherlands)

    Frissen, Aleida; Lieverse, Ritsaert; Marcelis, Machteld; Drukker, Marjan; Delespaul, Philippe; Cahn, W

    2015-01-01

    BACKGROUND: Early social and cognitive alterations in psychotic disorder, associated with familial liability and environmental exposures, may contribute to lower than expected educational achievement. The aims of the present study were to investigate (1) how differences in educational level between

  13. FAMILY AND NON-FAMILY RURAL AGRO-INDUSTRIES: A COMPARATIVE ANALYSIS

    Directory of Open Access Journals (Sweden)

    Lillian Bastian

    2014-07-01

    Full Text Available Recently, innumerable alterations have been observed in rural areas, such as the introduction of new technologies, agro-industrial integration and valuing of these areas as living and leisure places, having delicious and healthy products. In the wake of these transformations, some farmers have begun to realize that there are new possibilities of generating income. One of these opportunities has arisen through the development of agro-industrial production as a typical activity of family agriculture. By an interest in this subject, this article aims to verify if there are distinctions, and what are the distinctions between rural agro-industries of family and non-family agriculture, to the level of Brazil. Initially, rural agro-industries that are heterogeneous among them have been highlighted, being difficult to make inferences on aggregated data. However, the separation of data between agro-industries of family agriculture (FA and non-family agriculture (NFA has already made possible a cutout. Based on this assumption, some variables were selected from the Agricultural Census of 2006 to infer on eight products from the rural agro-industry. This way, through these data and variables, it was possible to identify that the rural agro-industry is more numerous in family establishments, as well as its total production coming mainly from it, with the exception of two products which production, between FA and NFA, is basically equivalent. Through the variable scale of production for the six analyzed products, it was possible to verify that they were above in NFA, and two in FA. The NFA is also highlighted with acquired raw material and commercialization in a greater proportion. In addition, commercialization channels are practically identical, with some exception, as long as the FA sells more to the final consumer and NFA to intermediate consumers. The conclusion have indicated that the distinctions between these two types of agro-industries are strongly

  14. Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq

    Directory of Open Access Journals (Sweden)

    Jamal Shakir AR

    2010-07-01

    Full Text Available Abstract Background Glucose-6-Phosphate dehydrogenase (G6PD is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is to determine the prevalence of this enzymopathy and its molecular basis among Iraqi Kurds. Methods A total of 580 healthy male Kurdish Iraqis randomly selected from a main regional premarital screening center in Northern Iraq were screened for G6PD deficiency using methemoglobin reduction test. The results were confirmed by quantitative enzyme assay for the cases that showed G6PD deficiency. DNA analysis was performed on 115 G6PD deficient subjects, 50 from the premarital screening group and 65 unrelated Kurdish male patients with documented acute hemolytic episodes due to G6PD deficiency. Analysis was performed using polymerase chain reaction/restriction fragment length polymorphism for five deficient molecular variants, namely G6PD Mediterranean (563 C→T, G6PD Chatham (1003 G→A, G6PD A- (202 G→A, G6PD Aures (143 T→C and G6PD Cosenza (1376 G→C, as well as the silent 1311 (C→T mutation. Results Among 580 random Iraqi male Kurds, 63 (10.9% had documented G6PD deficiency. Molecular studies performed on a total of 115 G6PD deficient males revealed that 101 (87.8% had the G6PD Mediterranean variant and 10 (8.7% had the G6PD Chatham variant. No cases of G6PD A-, G6PD Aures or G6PD Cosenza were identified, leaving 4 cases (3.5% uncharacterized. Further molecular screening revealed that the silent mutation 1311 was present in 93/95 of the Mediterranean and 1/10 of the Chatham cases. Conclusions The current study revealed a high prevalence of G6PD deficiency among Iraqi Kurdish population of Northern Iraq with most cases being due to the G6PD

  15. Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.

    Science.gov (United States)

    Press, J; Shinar, Y; Langevitz, P; Livneh, A; Pras, M; Buskila, D

    2000-06-05

    Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF.

  16. Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family.

    Science.gov (United States)

    Yeh, Tu-Hsueh; Lin, Juei-Jueng; Lai, Szu-Chia; Wu-Chou, Yah-Huei; Chen, An-Chih; Yueh, Kuo-Chu; Chen, Rou-Shayn; Lu, Chin-Song

    2012-12-15

    Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD.

  17. Family-centred care of children in hospital - a concept analysis

    DEFF Research Database (Denmark)

    Mikkelsen, Gitte; Frederiksen, Kirsten

    2011-01-01

    mikkelsen g. & frederiksen k. (2011) Family-centred care of children in hospital - a concept analysis. Journal of Advanced Nursing67(5), 1152-1162. ABSTRACT: Aim.  This paper reports a concept analysis of family-centred nursing care of hospitalized children. Background.  Family-centred care...... and scientific maturity of the concept. Findings.  There is good agreement on the defining attributes of the concept, but they are described by sub concepts in need of clarification. The relationship between family and professionals is characterized by a mutual dependency and shared responsibility for the child...... include the perspective of the sick child....

  18. Familial Analysis of Seropositivity to Trypanosoma cruzi and of Clinical Forms of Chagas Disease

    Science.gov (United States)

    Silva-Grecco, Roseane L.; Balarin, Marly A. S.; Correia, Dalmo; Prata, Aluízio; Rodrigues, Virmondes

    2010-01-01

    A cross-sectional study was carried out in Água Comprida, MG, Brazil, a region previously endemic to Chagas disease whose vectorial transmission was interrupted around 20 year ago. A total of 998 individuals were examined for anti-Trypanosoma cruzi antibodies. Seropositivity was observed in 255 subjects (25.5%), and 743 subjects were negative. Forty-one families with 5–80 individuals with similar environmental conditions were selected for familial analysis. In 15 families, seropositivity to T. cruzi was observed in > 50% of individuals. The segregation analysis confirmed family aggregation for the seropositivity to the T. cruzi. Heart commitment was the major clinical form observed, and in six families, > 50% of the individuals display cardiopathy that may be attributed to T. cruzi infection. Our results support the hypothesis that there is a family aggregation for the seropositivity but without the effect of one major gene. PMID:20064994

  19. Modulus of families of loops with applications in network analysis

    CERN Document Server

    Shakeri, Heman; Albin, Nathan; Scoglio, Caterina

    2016-01-01

    We study the structure of loops in networks using the notion of modulus of loop families. We introduce a new measure of network clustering by quantifying the richness of families of simple loops. Modulus tries to minimize the expected overlap among loops by spreading the expected link-usage optimally. We propose weighting networks using these expected link-usages to improve classical community detection algorithms. We show that the proposed method enhances the performance of certain algorithms, such as spectral partitioning and modularity maximization, on standard benchmarks.

  20. Family-Centered Care in Neonatal Intensive Care Unit: A Concept Analysis

    Science.gov (United States)

    Ramezani, Tahereh; Hadian Shirazi, Zahra; Sabet Sarvestani, Raheleh; Moattari, Marzieh

    2014-01-01

    Background: The concept of family- centered care in neonatal intensive care unit has changed drastically in protracted years and has been used in various contexts differently. Since we require clarity in our understanding, we aimed to analyze this concept. Methods: This study was done on the basis of developmental approach of Rodgers’s concept analysis. We reviewed the existing literature in Science direct, PubMed, Google Scholar, Scopus, and Iran Medex databases from 1980 to 2012. The keywords were family-centered care, family-oriented care, and neonatal intensive care unit. After all, 59 out of 244 English and Persian articles and books (more than 20%) were selected. Results: The attributes of family-centered care in neonatal intensive care unit were recognized as care taking of family (assessment of family and its needs, providing family needs), equal family participation (participation in care planning, decision making, and providing care from routine to special ones), collaboration (inter-professional collaboration with family, family involvement in regulating and implementing care plans), regarding family’s respect and dignity (importance of families’ differences, recognizing families’ tendencies), and knowledge transformation (information sharing between healthcare workers and family, complete information sharing according to family learning style). Besides, the recognized antecedents were professional and management-organizational factors. Finally, the consequences included benefits related to neonate, family, and organization. Conclusion: The findings revealed that family centered-care was a comprehensive and holistic caring approach in neonatal intensive care. Therefore, it is highly recommended to change the current care approach and philosophy and provide facilities for conducting family-centered care in neonatal intensive care unit.  PMID:25349870

  1. Thematic content analysis of work-family interactions: Retired cosmonauts’ reflections

    Science.gov (United States)

    Johnson, Phyllis J.; Asmaro, Deyar; Suedfeld, Peter; Gushin, Vadim

    2012-12-01

    Anecdotal evidence and qualitative research attest to the importance of work-family interactions pre-, during and post-missions. This study uses thematic content analysis to quantify characteristics of work-family interactions and how these changed by stage of cosmonauts' career, identifying the effect of space career variables (e.g., time in space and station) on such interactions during and post-career. Using a thematic scoring scheme developed for this study, we coded work-family interactions identified from interviews with 20 retired male cosmonauts. The majority of work-family interactions were ones in which work overlapped into family life and work hindered or interfered with the family situation. The most common resolution was that family adjusted to work, and the mood or tone about this outcome was almost equally divided among negative, positive and neutral. Changes in work-family interactions and their resolution over the cosmonaut's life showed that the significant interactions were most evident during the cosmonaut career. Although the cosmonaut career has high work demands, it did adjust for family when the need arose. The Russian Space Agency (RKS) eased the impact of the periodic absences, especially through regular communication sessions. Positive work-family interactions, i.e., work or family helping the opposite role, were more likely for those who had been on ISS, not Mir, and for those whose last flight was after 2000. Our data reflect retired cosmonauts' recollections of work-family interactions during their career. Examples of work overlapping into family life and work viewed as interfering with family life were possibly more salient or better remembered than work or family helping the other role.

  2. Rare variant analysis for family-based design.

    Directory of Open Access Journals (Sweden)

    Gourab De

    Full Text Available Genome-wide association studies have been able to identify disease associations with many common variants; however most of the estimated genetic contribution explained by these variants appears to be very modest. Rare variants are thought to have larger effect sizes compared to common SNPs but effects of rare variants cannot be tested in the GWAS setting. Here we propose a novel method to test for association of rare variants obtained by sequencing in family-based samples by collapsing the standard family-based association test (FBAT statistic over a region of interest. We also propose a suitable weighting scheme so that low frequency SNPs that may be enriched in functional variants can be upweighted compared to common variants. Using simulations we show that the family-based methods perform at par with the population-based methods under no population stratification. By construction, family-based tests are completely robust to population stratification; we show that our proposed methods remain valid even when population stratification is present.

  3. Cost-Effectiveness Analysis of Family Planning Services Offered by ...

    African Journals Online (AJOL)

    USER

    Keywords: Mobile clinics; Staic clinic; Family planning; Cost-effectiveness. Résumé ... revealed surprisingly low use of mobile clinic services ... provider point of view. Cost data ..... this is an even more attractive strategy than tying free IUDs to ...

  4. Characterization and global analysis of a family of Poisson structures

    Energy Technology Data Exchange (ETDEWEB)

    Hernandez-Bermejo, Benito [Escuela Superior de Ciencias Experimentales y Tecnologia, Edificio Departamental II, Universidad Rey Juan Carlos, Calle Tulipan S/N, 28933 (Mostoles), Madrid (Spain)]. E-mail: benito.hernandez@urjc.es

    2006-06-26

    A three-dimensional family of solutions of the Jacobi equations for Poisson systems is characterized. In spite of its general form it is possible the explicit and global determination of its main features, such as the symplectic structure and the construction of the Darboux canonical form. Examples are given.

  5. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

    Hansen, L; Riis, A K; Silahtaroglu, A;

    2011-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions...

  6. Factors associated with family-centered involvement in family practice--a cross-sectional multivariate analysis.

    Science.gov (United States)

    Deutsch, Tobias; Frese, Thomas; Sandholzer, Hagen

    2014-01-01

    The importance of a family-centered approach in family practice has been emphasized. Knowledge about factors associated with higher family-centered involvement seems beneficial to stimulate its realization. German office-based family physicians completed a questionnaire addressing several aspects of family-centered care. Logistic regression was used to identify associations with the involvement overall and in different domains: routine inquiry and documentation of family-related information, family orientation regarding diagnosis and treatment, family-oriented dialogues, family conferences, and case-related collaboration with marriage and family therapists. We found significant associations between physicians' family-centered involvement and expected patient receptiveness, perceived impact of the family's influence on health, self-perceived psychosocial family-care competences (overall and concerning concepts for family orientation, psychosocial intervention in family conferences, and the communication of the idea of family counseling), advanced training in psychosocial primary care (PPC), personal acquaintance with family therapists (regarding case-related collaboration), and rural office environment. Increased emphasis on the family's influence on health in medical education and training, the provision of concepts for a family-centered perspective, and versatile skills for psychosocial intervention and inquiry of patient preferences, as well as the strengthening of networking between family physicians and family therapists, might promote the family-centered approach in family practice.

  7. Complementarity as a Function of Stage in Therapy: An Analysis of Minuchin's Structural Family Therapy.

    Science.gov (United States)

    Laird, Heather; Vande Kemp, Hendrika

    1987-01-01

    Explored the level of family therapist complementarity in the early, middle and late stages of therapy performing a micro-analysis of Salvador Minuchin with one family in successful therapy. Level of therapist complementarity was signficantly greater in the early and late stages than in the middle stage, and was significantly correlated with…

  8. The Effectiveness of Transactional Analysis Group-counseling on the Improvement of Couples’ Family Functioning

    Directory of Open Access Journals (Sweden)

    Ghorban Ali Yahyaee

    2015-06-01

    Full Text Available Background & Aims of the Study: Family functioning is among the most important factors ensuring the mental health of family members. Disorder or disturbance in family functioning would cause many psychological problems for family members. Current study intended to examine the effectiveness of transactional analysis group counseling on the improvement of couple's family functioning. Materials & Methods: The design of the study is as semi experimental research with pretest and posttest with follow up and control group. Statistical population consists all couples referring to the psychological and counseling centers of Rasht city in 2012. Samples were selected at first by available sampling method and after completing family assessment  device, and obtaining score for enter to research, were placement using random sampling method in two experimental and control groups (N = 8 couples per group. The experimental group participated in 12 sessions of group counseling based on transactional analysis and control group received no intervention. The gathered data were analyzed using covariance analysis. Results: The results show that there are significant differences between the pre-test and post test scores of the experimental group. This difference is significant at the level of 0.05. Therefore it seems that transactional group therapy improved the dimensions of family functioning in couples. Conclusions: The results indicated that transactional analysis group counseling can improve the family functioning and use this approach to working with couples is recommended.

  9. [Structure and function analysis of Arabidopsis thaliana SRO protein family].

    Science.gov (United States)

    Li, Bao-Zhu; Zhao, Xiang; Zhao, Xiao-Liang; Peng, Lei

    2013-10-01

    Many biotic and abiotic stresses can cause oxidative stress in plants. The identification of components involved in plant response to oxidative stress has attracted wide attention. The members of AtSRO family, including AtRCD1, AtSRO1, and AtSRO5, regulate plants' response to oxidative stress. AtSROs participate in plant normal growth and development, and play important roles in plant response to stresses, such as drought, salt, heavy metal, and so on. In addition, AtSROs possess some special domains, including PARP and RST. It is speculated that AtSROs may function in regulating protein transcription, adjustment, and modification. This review highlights some recent progresses, such as basic situation of AtSROs, effects of AtSRO family proteins on plant growth and response to abiotic stress, which will provide a theoretical basis for further studying on biological functions of AtSRO.

  10. Analysis of thermal adaptation in the HSL enzyme family.

    Science.gov (United States)

    Mandrich, L; Pezzullo, M; Del Vecchio, P; Barone, G; Rossi, M; Manco, G

    2004-01-01

    The recently solved three-dimensional (3D) structures of two thermostable members of the carboxylesterase/lipase HSL family, namely the Alicyclobacillus (formerly Bacillus) acidocaldarius and Archaeoglobus fulgidus carboxylesterases (EST2 and AFEST, respectively) were compared with that of the mesophilic homologous counterpart Brefeldine A esterase from Bacillus subtilis. Since the 3D homology models of other members of the HSL family were also available, we performed a structural alignment with all these sequences. The resulting alignment was used to assess the amino acid "traffic rule" in the HSL family. Quite surprisingly, the data were in very good agreement with those recently reported from two independent groups and based on the comparison of a huge number of homologous sequences from the genus Bacillus, Methanococcus and Deinococcus/Thermus. Taken as a whole, the data point to the statistical meaning of defined amino acid conversions going from psychrophilic to hyperthermophilic sequences. We identified and mapped several such changes onto the EST2 structure and observed that such mutations were localized mostly in loops regions or alpha-helices and were mostly excluded from the active site. A site-directed mutagenesis of two of the identified residues confirmed they were involved in thermal stability.

  11. Analysis of the migration process of Colombian families in Spain

    Directory of Open Access Journals (Sweden)

    Adelina Gimeno Collado

    2014-04-01

    Full Text Available This study analyses migration as a process centred on the transnational family as told by its main characters: migrants – parents and children –¬ and their families in Colombia. The study is based on the systematic model and methodology of the Grounded Theory approach. The migration process is triggered by a combination of push and pull factors. The pioneers, mainly women, have very diverse profiles. We highlight the difficulty of their first experiences, which they overcome via personal tenacity and external support. Despite the difficulties of the acculturation process, the overall outcome is positive, especially regarding their expectations for their children, who wish to stay in Spain having overcome the initial challenges of adaptation. Children experience their own acculturation process, but there is no conflict between children and parents despite their different acculturation levels. Despite hopes that their integration process Spain would have been better, they are thankful for the support received. Decisions are made and adaptation occurs in the private domain, i.e., the family; however, there is a lack of group awareness or joint social action to improve conditions in the country of origin or to improve integration in the host country.

  12. Similar familial underpinnings for full and subsyndromal pediatric bipolar disorder: A familial risk analysis.

    Science.gov (United States)

    Wozniak, Janet; Uchida, Mai; Faraone, Stephen V; Fitzgerald, Maura; Vaudreuil, Carrie; Carrellas, Nicholas; Davis, Jacqueline; Wolenski, Rebecca; Biederman, Joseph

    2017-05-01

    To examine the validity of subthreshold pediatric bipolar I disorder (BP-I), we compared the familial risk for BP-I in the child probands who had either full BP-I, subthreshold BP-I, ADHD, or were controls that neither had ADHD nor bipolar disorder. BP-I probands were youth aged 6-17 years meeting criteria for BP-I, full (N=239) or subthreshold (N=43), and also included were their first-degree relatives (N=687 and N=120, respectively). Comparators were youth with ADHD (N=162), controls without ADHD or bipolar disorder (N=136), and their first-degree relatives (N=511 and N=411, respectively). We randomly selected 162 non-bipolar ADHD probands and 136 non-bipolar, non-ADHD control probands of similar age and sex distribution to the BP-I probands from our case-control ADHD family studies. Psychiatric assessments were made by trained psychometricians using the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children Epidemiological Version (KSADS-E) and Structured Clinical Interview for DSM-IV (SCID) structured diagnostic interviews. We analyzed rates of bipolar disorder using multinomial logistic regression. Rates of full BP-I significantly differed between the four groups (χ(2)3 =32.72, P<.001): relatives of full BP-I probands and relatives of subthreshold BP-I probands had significantly higher rates of full BP-I than relatives of ADHD probands and relatives of control probands. Relatives of full BP-I, subthreshold BP-I, and ADHD probands also had significantly higher rates of major depressive disorder compared to relatives of control probands. Our results showed that youth with subthreshold BP-I had similarly elevated risk for BP-I and major depressive disorder in first-degree relatives as youth with full BP-I. These findings support the diagnostic continuity between subsyndromal and fully syndromatic states of pediatric BP-I disorder. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Permutation methods for the structured exploratory data analysis (SEDA) of familial trait values.

    Science.gov (United States)

    Karlin, S; Williams, P T

    1984-07-01

    A collection of functions that contrast familial trait values between and across generations is proposed for studying transmission effects and other collateral influences in nuclear families. Two classes of structured exploratory data analysis (SEDA) statistics are derived from ratios of these functions. SEDA-functionals are the empirical cumulative distributions of the ratio of the two contrasts computed within each family. SEDA-indices are formed by first averaging the numerator and denominator contrasts separately over the population and then forming their ratio. The significance of SEDA results are determined by a spectrum of permutation techniques that selectively shuffle the trait values across families. The process systematically alters certain family structure relationships while keeping other familial relationships intact. The methodology is applied to five data examples of plasma total cholesterol concentrations, reported height values, dermatoglyphic pattern intensity index scores, measurements of dopamine-beta-hydroxylase activity, and psychometric cognitive test results.

  14. Organ donation agency: A discourse analysis of correspondence between donor and organ recipient families.

    Science.gov (United States)

    Galasiński, Dariusz; Sque, Magi

    2016-11-01

    Studies about the psychosocial issues concerning organ donation and transplantation tend to focus on the experiences of donor or recipient families. Little is known about the part played by correspondence exchanged between these two groups; in particular how they perceive the agency of organ donation. This is the first analysis to address the representation of the act of donation from the viewpoint of both donor and recipient families through interrogation of archived correspondence data, using linguistic techniques. The data was drawn from a collection of letters, from four USA organ procurement organisations, exchanged between donor and transplant recipient families. Donor families consistently linguistically ascribed agency and accountability for donation to the person who died, the donor. For the recipient families, on the other hand, the 'giver' was mainly implied, ambiguous or ascribed to the donor family.

  15. Home healthcare and family responsibility: a critical discourse analysis of talk and text.

    Science.gov (United States)

    Funk, Laura M

    2013-10-01

    This paper addresses how families' roles and responsibility for care are constructed within home health (in contrast to the responsibility of home health). A discourse analysis informed by a critical theoretical approach was used to analyze qualitative interviews with 13 home health managers and clinical leaders in British Columbia, alongside home care documents. When referring to family involvement, there was an emphasis on the importance of supporting a client's choice to stay at home. Government and agency documents describe family members as primary providers, with home health having a supplementary role. Agencies seek to avoid "substituting" for family care. Family responsibility is characterized as having both moral and structural value. Nonetheless, some participants advocated flexibility and recognized potential caregiving challenges. Data provide examples of how agency expectations are communicated to clients and families and become embedded within practice and policy. Findings are viewed within the broader organizational context as representing the "responsibilization" of support.

  16. WORKPLACE SOCIAL SUPPORT AND WORK–FAMILY CONFLICT: A META-ANALYSIS CLARIFYING THE INFLUENCE OF GENERAL AND WORK–FAMILY-SPECIFIC SUPERVISOR AND ORGANIZATIONAL SUPPORT

    Science.gov (United States)

    KOSSEK, ELLEN ERNST; PICHLER, SHAUN; BODNER, TODD; HAMMER, LESLIE B.

    2011-01-01

    This article uses meta-analysis to develop a model integrating research on relationships between employee perceptions of general and work–family-specific supervisor and organizational support and work–family conflict. Drawing on 115 samples from 85 studies comprising 72,507 employees, we compared the relative influence of 4 types of workplace social support to work–family conflict: perceived organizational support (POS); supervisor support; perceived organizational work–family support, also known as family-supportive organizational perceptions (FSOP); and supervisor work–family support. Results show work–family-specific constructs of supervisor support and organization support are more strongly related to work–family conflict than general supervisor support and organization support, respectively. We then test a mediation model assessing the effects of all measures at once and show positive perceptions of general and work–family-specific supervisor indirectly relate to work–family conflict via organizational work–family support. These results demonstrate that work–family-specific support plays a central role in individuals’ work–family conflict experiences. PMID:21691415

  17. Segregation Analysis of 231 Ashkenazi Jewish Families for Evidence of Additional Breast Cancer Susceptibility Genes

    National Research Council Canada - National Science Library

    David J. Kaufman; Terri H. Beaty; Jeffery P. Struewing

    2003-01-01

    .... Using segregation analysis, families of cases without BRCA1/2 mutations were studied for statistical evidence of another major breast cancer gene in a community-based sample of Jewish probands tested...

  18. Work-family enrichment, work-family conflict, and marital satisfaction: a dyadic analysis.

    Science.gov (United States)

    van Steenbergen, Elianne F; Kluwer, Esther S; Karney, Benjamin R

    2014-04-01

    This study was designed to examine whether spouses' work-to-family (WF) enrichment experiences account for their own and their partner's marital satisfaction, beyond the effects of WF conflict. Data were collected from both partners of 215 dual-earner couples with children. As hypothesized, structural equation modeling revealed that WF enrichment experiences accounted for variance in individuals' marital satisfaction, over and above WF conflict. In line with our predictions, this positive link between individuals' WF enrichment and their marital satisfaction was mediated by more positive marital behavior, and more positive perceptions of the partner's behavior. Furthermore, evidence for crossover was found. Husbands who experienced more WF enrichment were found to show more marital positivity (according to their wives), which related to increased marital satisfaction in their wives. No evidence of such a crossover effect from wives to husbands was found. The current findings not only highlight the added value of studying positive spillover and crossover effects of work into the marriage, but also suggest that positive spillover and crossover effects on marital satisfaction might be stronger than negative spillover and crossover are. These results imply that organizational initiatives of increasing job enrichment may make employees' marital life happier and can contribute to a happy, healthy, and high-performing workforce.

  19. The effect of family size on savings: a cross-sectional analysis.

    Science.gov (United States)

    Esquerra-powers, V

    1978-01-01

    An analysis of rising population on economic growth was conducted in the Philippines through the effects on savings and investment. Census data were used to extract income, expenditure, and consumption for 1957, 1961, and 1965. Regression analysis on income by income class showed rural families have the highest marginal savings potential when the effect of family size was not a factor. However, when family size was considered, the expenditure-income coefficients were reduced for all areas except rural areas which remained relatively high. Family size coefficients were absolutely greater for urban areas, but proportionately greater for rural areas in relation to expenditure. The study did not show that economies of scale in family spending were important.

  20. Analysis of energy consumption in single family houses

    DEFF Research Database (Denmark)

    Nielsen, Henrik Aalborg; Mortensen, Stig Bousgaard; Bacher, Peder

    2010-01-01

    This article deals with estimation of the thermal characteristics of single family houses based on measurements of energy consumption and climate. The thermal characteristics includes the response of the building to changes in temperature (UA-value), solar radiation (gA-value), and wind (w...... to estimate the dynamic effects averages with a sample period around 4 hours are required. Also, it is beneficial to use measurements of the total energy consumption (heat and electricity). However, in most cases it results in adequate estimates if only the heat consumption is used as the response variable...

  1. Analysis of energy consumption in single family houses

    DEFF Research Database (Denmark)

    Nielsen, Henrik Aalborg; Mortensen, Stig Bousgaard; Bacher, Peder

    2010-01-01

    This article deals with estimation of the thermal characteristics of single family houses based on measurements of energy consumption and climate. The thermal characteristics includes the response of the building to changes in temperature (UA-value), solar radiation (gA-value), and wind (w...... to estimate the dynamic effects averages with a sample period around 4 hours are required. Also, it is beneficial to use measurements of the total energy consumption (heat and electricity). However, in most cases it results in adequate estimates if only the heat consumption is used as the response variable...

  2. Genetic analysis and clinical features of familial hypokalemic periodic paralysis

    Directory of Open Access Journals (Sweden)

    Hui-li ZHANG

    2014-06-01

    Full Text Available Background To investigate the gene mutation and clinical features of hypokalemic periodic paralysis (HypoPP in a Han family. Methods Mutation analyses of CACNA1S, SCN4A and KCNE3 gene were screened by DNA direct sequencing in the proband (Ⅲ3. Then, other patients and one asymptomatic relative were tested for the mutation detected in the proband before. Besides, clinical information was collected and analyzed carefully so as to detect whether the mutations were responsible for HypoPP.  Results KCNE3 gene was not detected in the propositus (Ⅲ 3. Mutations of IVS25-194C/T in CACNA1S gene were detected in the propositus (Ⅲ 3 and other patients (Ⅱ 1, Ⅲ 4, Ⅳ 3, while it was not detected in the asymptomatic relative (Ⅲ1. Given that it was an intron mutation, we presumed that it was not responsible for HypoPP in this family. In addition, mutations of IVS18-130G/A in SCN4A gene were detected in all patients (except for Ⅰ1 and asymptomatic relative (Ⅲ 1. Since it was an intron mutation and it was detected in symptomatic or asymptomatic members simultaneously, we also presumed that it was not responsible for HypoPP in this family. Interestingly, a missense mutation (V662I of c.1984G > A in exon 12 of SCN4A gene was detected in the proband (Ⅲ 3 and asymptomatic relative (Ⅲ 1. However, it was not detected in other symptomatic members ( Ⅱ 1, Ⅲ 4, Ⅳ 3. Based on clinical information and bioinformatics, we presumed that it was not causative mutation for the disease in this pedigree.  Conclusions This pedigree research enriched the data of gene mutation and clinical features of HypoPP in China. Besides for gene KCNE3, CACNA1S and SCN4A, other gene mutations accounted for HypoPP in the Han family should be further studied. doi: 10.3969/j.issn.1672-6731.2014.06.006

  3. Evolutionary Analysis of the Cystatin Family in Three Schistosoma Species

    Directory of Open Access Journals (Sweden)

    Yesid eCuesta-Astroz

    2014-07-01

    Full Text Available The cystatin family comprises cysteine protease inhibitors distributed in 3 subfamilies (I25A-C. Family members lacking cystatin activity are currently unclassified. Little is known about the evolution of Schistosoma cystatins, their physiological roles, and expression patterns in the parasite life cycle. The present study aimed at identifying cystatin homologs in the predicted proteome of three Schistosoma species and other Platyhelminthes. We analyzed the amino acid sequence diversity focused in the identification of protein signatures and to establish evolutionary relationships among Schistosoma and experimentally validated human cystatins. Gene expression patterns were obtained from different development stages in S. mansoni using microarray data. In Schistosoma, only I25A and I25B proteins were identified, reflecting little functional diversification. I25C and unclassified subfamily members were not identified in Platyhelminthes species here analyzed. The resulting phylogeny placed cystatins in different clades, reflecting their molecular diversity. Our findings suggest that Schistosoma cystatins are very divergent from their human homologs, especially regarding the I25B subfamily. Schistosoma cystatins also differ significantly from other Platyhelminthes homologs. Finally, transcriptome data publicly available indicated that I25A and I25B genes are constitutively expressed thus could be essential for schistosome life cycle progression. In summary, this study provides insights into the evolution, classification, and functional diversification of cystatins in Schistosoma and other Platyhelminthes, improving our understanding of parasite biology and opening new frontiers in the identification of novel therapeutic targets against helminthiases.

  4. CLINICAL AND GENETIC ANALYSIS OF THREE FAMILIES WITH FAMILIAR AMYLOID POLYNEUROPATHY

    Institute of Scientific and Technical Information of China (English)

    Yan-feng Li; Hou Ng; Iok Sun U; Waii Leong

    2008-01-01

    Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP).Methods Three families of suspected FAP in China mainland and Maeau were investigated on aspects of clinical manifestations,histological features,and gene analysis.Results All the 3 families had the clinical features of sensory and motor polyneuropathies,and notable vegetative nerve involvements.Affected cases of one family had ultrasound proved eardiomyopathy.Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families,and anti-transthyretin antisera staining was positive in 3 cases of one family.Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met,Phe33Val,and Gly67Glu in the 3 families respectively.The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families.Conclusion FAP is an autosomal dominant inherited disease,with its clinical manifestations related to the type of genetic mutation.

  5. Discourse analysis: what is it and why is it relevant to family practice?

    Science.gov (United States)

    Shaw, Sara E; Bailey, Julia

    2009-10-01

    This paper aims to illustrate what discourse analysis is and how it can contribute to our understanding of family practice. Firstly, we describe what 'discourse analysis' is, mapping the discourse analysis terrain by discussing four studies relevant to primary care to illustrate different methodological approaches and key concepts. We then address the practicalities of how to actually do discourse analysis, providing readers with a worked example using one particular approach. Thirdly, we touch on some common debates about discursive research. We conclude by advocating that researchers and practitioners take up the challenge of understanding, utilizing and extending the field of discourse studies within family practice.

  6. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  7. The familial influence of loss and trauma on refugee mental health: a multilevel path analysis.

    Science.gov (United States)

    Nickerson, Angela; Bryant, Richard A; Brooks, Robert; Steel, Zachary; Silove, Derrick; Chen, Jack

    2011-02-01

    Although the impact of human rights violations on the mental health of refugees has been well documented, little is known about these effects at a family level. In this study the authors examined the relationships among loss, trauma, and mental health at the individual and family levels in resettled Mandaean refugees (N = 315). Trauma, loss, posttraumatic stress disorder, depression, complicated grief, and mental health-related quality of life were assessed. A multilevel path analysis revealed that loss and trauma significantly impacted on psychological outcomes at both the individual and family levels. Effect sizes ranged from .21 to .68 at the individual level, and .38 to .99 at the family level, highlighting the importance of the family when considering the psychological impact of refugee-related trauma. Copyright © 2011 International Society for Traumatic Stress Studies.

  8. Family experiences of living with an eating disorder: a narrative analysis.

    Science.gov (United States)

    Papathomas, Anthony; Smith, Brett; Lavallee, David

    2015-03-01

    Families are considered important in the management and treatment of eating disorders. Yet, rarely has research focused on family experiences of living with an eating disorder. Addressing this gap, this study explores the experiences of an elite 21-year-old triathlete with an eating disorder in conjunction with the experiences of her parents. Family members attended interviews individually on three separate occasions over the course of a year. In line with the narrative approach adopted, whereby stories are considered the primary means to construct experience, interviews encouraged storytelling through an open-ended, participant-led structure. Narrative analysis involved repeated readings of the transcripts, sensitising towards issues of narrative content (key themes) and structure (overarching plot). Family difficulties arose when personal experiences strayed from culturally dominant narrative forms and when family members held contrasting narrative preferences. Suggestions are forwarded as to how an appreciation of eating disorder illness narratives might inform treatment and support.

  9. The Use of Theory in Family Therapy Research: Content Analysis and Update.

    Science.gov (United States)

    Chen, Ruoxi; Hughes, Alexandria C; Austin, Jason P

    2017-02-22

    In this study, we evaluated 275 empirical studies from Journal of Marital and Family Therapy and Family Process from 2010 to 2015 on their use of theory, and compared our findings to those of a similar previous analysis (Hawley & Geske, 2000). Overall, theory seems to have become much better incorporated in empirical family therapy research, with only 16.4% of the articles not using theory in either their introductory or discussion sections. Theory appeared better incorporated in the introductory sections than in the discussion sections. Systems theory remained the most commonly used conceptual framework, followed by attachment theory. We discuss areas for improving theory incorporation in family therapy research, and offer suggestions for both family therapy researchers and educators.

  10. Place of origin and violent disagreement among Asian American families: analysis across five States.

    Science.gov (United States)

    Wang, Jong-Yi; Probst, Janice C; Moore, Charity G; Martin, Amy B; Bennett, Kevin J

    2011-08-01

    We examined the prevalence of and factors associated with violent and heated disagreements in the Asian American families, with an emphasis on place of birth differences between parent and child. Data were obtained from the 2003 National Survey of Children's Health, limited to five states with the highest concentration of Asian-Americans (n = 793). Multivariable analysis used generalized logistic regression models with a three-level outcome, violent and heated disagreement versus calm discussion. Violent disagreements were reported in 13.7% of Asian-American homes and 9.9% of white homes. Differential parent-child place of birth was associated with increased odds for heated disagreement in Asian-American families. Parenting stress increased the likelihood of violent disagreements in both Asian-American and white families. Asian-American families are not immune to potential family violence. Reducing parenting stress and intervening in culturally appropriate ways to reduce generation differences should be violence prevention priorities.

  11. Navy Family Advocacy Program. Appendix. Analysis of Central Registry Reports.

    Science.gov (United States)

    1983-12-01

    2/76) 2 Suspected Abuzso/Malect/Sexua1 Assault an ae2404 65.) "Suspected Abuso /Neglect/ Sexual Assault and Rape Report" 2226 60.5 NAVMED 6320/15A...ANALYSIS OF SEXUAL ASSAULT REPORTS ........... 50 HAPTER V: SUMAY ANALYSIS Or rAMILY ADVOCACY PROGRAM REPORTS . 56 APPENDIX...cont’d)I PAGE CHAPTER IV: SEXUAL ASSAULT TV-1 Fore . . . . . . . . . . . . . . . . . . . . . 51 IV-2 Type of Maltreatment ............... 53 IV-3

  12. Psychosemantic System of Social Psychological Goal-Directedness in Families: A Structural Analysis

    Directory of Open Access Journals (Sweden)

    Nozikova N.V.,

    2016-01-01

    Full Text Available This paper aims to carry out a structural analysis of the psychosemantic system of goal-directedness in families. The hypothesis suggests that family semantic criterion makes it possible to differentiate the structure/level organization of meaning elements and their associative connections and to reveal the content of the object. The research involved 135 young women and 134 young men (aged 15—18; 150 women (aged 21—64 and 38 men (aged 20—55, married, with children. A modified version of I.L. Solomin’s technique of semantic differential was used. A comparative analysis of structural and hierarchical levels of psychosemantics of social psychological goal-directedness of families was carried out basing on the family semantic criterion. The general system level consists of structures representing two generations of a fam¬ily – parents and modern generation. The structure of the subsystem level is common for all groups of respondents and consists of five sublevels with different functional tasks: “My parental family”, “My father”, “My future family”/ “My family”, “My husband”/ “My wife”, and “Birth of a child”. Concepts that define members of the family and family groups, ideal representations of them, events and types of activity related to family life, constitute the component level. The concept of divorce due to its semantics does not belong to the family psychosemantic system. The component content of the subsystem level differs according to age, sex and marital status, which highlights the necessity of further functional research and complex analysis of the psychosemantic system relevant for practical family psychology.

  13. [Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families].

    Science.gov (United States)

    Ristić, Aleksandar J; Janković, Slavko; Annesi, Grazzia; Carrideo, Sara; Annesi, Ferdinanda; Gambardella, Antonio; Maksimović, Goran; Gnjatović, Brankica; Petrović, Igor; Vojvodić, Nikola; Sokić, Dragoslav

    2005-01-01

    The results of clinical and genetic analysis of three Serbian families (pedigrees) with autosomal dominant inheritance, incomplete penetrance and phenotypic features of GEFS+ are presented in this study. Mutation analysis of the SCN1A, SCN1B and GABRG2 genes was performed in all affected and some unaffected members of these three families. Twenty-six exons of SCN1A, five exons of SCN1B and nine exons of GABRG2 were individually amplified using primers based on intronic sequence. PCR products were sequenced in both forward and reverse directions. Subsequently, the samples were run and analyzed using 377 DNA automated sequencer. No consanguinity was noticed. The MM and OM family members live in Republic of Srpska while KS family originates from the central Serbia. No mutations of the exons of SCN1A, SCN1B and GABRG2 genes were found in tested subjects. Obligate carriers in MM family (III-1, III-2, and III-4) exhibit variable expressivity or incomplete penetrance rather than proof of polygenetic inheritance. OM pedigree follows autosomal dominant pattern despite reduced penetrance. Bilinear transmission may assume the possibility of multigenetic mode of inheritance in KS family. The fact that all affected members in three Serbian families were negative for mutations in SCN1A, SCN1B and GABRG2 genes strongly supports the hypothesis of significant genetic heterogeneity of GEFS+. Recognizing GEFS+ on clinical grounds contributes to more precise integration of this syndrome into already existing classification of epileptic syndromes.

  14. Analysis of the design concept of 'Nora' family artillery weapons

    Directory of Open Access Journals (Sweden)

    Anastas L. Paligorić

    2011-10-01

    Full Text Available The development of the NORA family started as far as back to 1976 at the Military Technical Institute of the Yugoslav's People's Army. The programme covered development of several types of the main artillery weapon: the 152 mm NORA-A towed gun-howitzer, the 152 mm NORA-B self-propelled gun-howitzer and the 152 mm gun-howitzer with APU. Under the same programme, the conversion of the Russian 130 mm towed gun M46 into the 155 mm M46/84 gun (for export needs and the 152 mm M46/86 gun respectively (for the needs of the YPA was completed. Only the 152 mm M84 (NORA-A towed howitzer was introduced in service, while the development of the NORA-B and NORA-C weapons was carried on until 1992. After it had been suspended for many years, the development of the NORAB weapon was continued in 2003, followed by serial production of the 155 mm NORA-B52 self-propelled system for the export needs.

  15. Analysis of Installed Measures and Energy Savings for Single-Family Residential Better Buildings Projects

    Energy Technology Data Exchange (ETDEWEB)

    Heaney, M. [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Polly, B. [National Renewable Energy Laboratory (NREL), Golden, CO (United States)

    2015-04-30

    This report presents an analysis of data for residential single-family projects reported by 37 organizations that were awarded federal financial assistance (cooperative agreements or grants) by the U.S. Department of Energy’s Better Buildings Neighborhood Program.1 The report characterizes the energy-efficiency measures installed for single-family residential projects and analyzes energy savings and savings prediction accuracy for measures installed in a subset of those projects.

  16. The Bonds and Burdens of Family Life: Using Narrative Analysis to Understand Difficult Relationships

    OpenAIRE

    Mary Breheny; Christine Stephens

    2011-01-01

    Attempts to understand difficult family relationships have ignored the inextricable links between positive and negative relationships. Narrative analysis provides insight into complex relationships within social context. We analysed interviews with older people in New Zealand using levels of narrativity to reveal the negotiations required to manage personal identity at the intersection of competing public narratives. Participants and interviewers used public narratives of family life that rei...

  17. Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation.

    Science.gov (United States)

    Maestrini, E; Rivella, S; Tribioli, C; Rocchi, M; Camerino, G; Santachiara-Benerecetti, S; Parolini, O; Notarangelo, L D; Toniolo, D

    1992-01-01

    Probes for CpG islands were cloned from the distal long arm of the human X chromosome; three of them were found to be polymorphic. A HindIII RFLP was identified by the probe 2-25 (DXS606), and it was mapped to the Xq27-Xq28 boundary. Probes 2-19 (DXS605) and 2-55 (DXS707), which identify EcoRI and MspI polymorphisms, respectively, have been mapped to the distal part of Xq28, in the G6PD-RCP/GCP gene region. Probe 2-19 has been further localized about 16 kb from the 3' end of the G6PD gene. The new RFLPs may be useful for the precise mapping of the many disease genes localized in this part of the human X chromosome. Probe 2-19 is highly informative, and it has been studied in greater detail. Using the methylation-sensitive rare-cutter enzyme EagI in conjunction with the polymorphic EcoRI site, we were able to demonstrate that the RFLP may be used both to study randomness of X chromosome inactivation and for carrier detection in X-linked syndromes where nonrandom X inactivation occurs. It is conceivable that the combined use of 2-19 and of the probes described so far (pSPT-PGK and M27 beta) will make analysis of X inactivation feasible in virtually every female.

  18. Identification of novel RFLPs in the vicinity of CpG islands in Xq28: Application to the analysis of the pattern of X chromosome inactivation

    Energy Technology Data Exchange (ETDEWEB)

    Camerino, G.; Santachiara-Benerecetti, S. (Univ. di Pavia (Italy)); Rocchi, M. (Univ. di Bari (Italy)); Parolini, O.; Notarangelo, L.D. (Univ. di Brecscia (Italy)); Maestrini, E.; Rivella, S.; Tribioli, C.; Toniolo, D.

    1992-01-01

    Probes of CpG islands were cloned from the distal long arm of the human X chromosome; three of them were found to be polymorphic. A HindIII RFLP was identified by the probe 2-25 (DXS606), and it was mapped to the Xq27-Xq28 boundary. Probes 2-19 (DXS605) and 2-55 (DXS707), which identify EcoRI and MspI polymorphisms, respectively, have been mapped to the distal part of Xq28, in the G6PD-RCP/GCP gene region. Probe 2-19 has been further localized about 16 kb from the 3{prime} end of the G6PD gene. The new RFLPs may be useful for the precise mapping of the many disease genes localized in this part of the human X chromosome. Using the methylation-sensitive rare-cutter enzyme EagI in conjunction with the polymorphic EcoRI site, the authors were able to demonstrate that the RFLP may be used both to study randomness of X chromosome inactivation and for carrier detection in X-linked syndromes where nonrandom X inactivation occurs. It is conceivable that the combined use of 2-19 and of the probes described so far (pSPT-PGK and M27{beta}) will make analysis of X inactivation feasible in virtually every female.

  19. Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation

    Indian Academy of Sciences (India)

    N. García-Magallanes; F. Luque-Ortega; E. M. Aguilar-Medina; R. Ramos-Payán; C. Galaviz-Hernández; J. G. Romero-Quintana; L. Del Pozo-Yauner; H. Rangel-Villalobos; E. Arámbula-Meraz

    2014-08-01

    Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme pathology in humans; it is X-linked inherited and causes neonatal hyperbilirubinaemia, chronic nonspherocytic haemolytic anaemia and drug-induced acute haemolytic anaemia. G6PD deficiency has scarcely been studied in the northern region of Mexico, which is important because of the genetic heterogeneity described in Mexican population. Therefore, samples from the northern Mexico were biochemically screened for G6PD deficiency, and PCR-RFLPs, and DNA sequencing used to identify mutations in positive samples. The frequency of G6PD deficiency in the population was 0.95% ($n = 1993$); the mutations in 86% of these samples were G6PD A-202A/376G, G6PD A-376G/968C and G6PD Santamaria376G/542T. Contrary to previous reports, we demonstrated that G6PD deficiency distribution is relatively homogenous throughout the country $(P = 0.48336)$, and the unique exception with high frequency of G6PD deficiency does not involve a coastal population (Chihuahua: 2.4%). Analysis of eight polymorphic sites showed only 10 haplotypes. In one individual we identified a new G6PD mutation named Mexico DF193A>G (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described.

  20. Negotiating a pathological identity in the clinical dialogue: discourse analysis of a family therapy.

    Science.gov (United States)

    Avdi, Evrinomy

    2005-12-01

    Within the framework of social constructionism, psychotherapy has been re-conceptualized as a semiotic process, which consists of the creative generation of new meanings in the context of collaborative discourse. In recent years, research approaches that draw from social constructionism, such as discourse analysis, have been fruitfully employed in the study of psychotherapy processes, whilst being in line with the contemporary emphasis on language, narrative, and meaning making. This paper aims to further the exploration of the usefulness of discourse analysis in the study of psychotherapy processes, and in particular, in situations where the medical discourse is powerfully implicated in the construction of a person's identity. It is based on the analysis of a family therapy with a family whose child has a diagnosis of autism. The analysis focuses on two features of the family's talk, namely shifts in the flexibility of employment of a diverse range of discourses and subject positions, and shifts in the ways agency is constructed and discursively negotiated in the clinical conversations. It is suggested that these shifts can be used as indications of change in the family's network of meanings. The analysis suggests that an important aspect in clinical work with families with a member with a psychiatric diagnosis lies in decentring, or deconstructing, the dominant, pathology-maintaining accounts, and allowing for a wider range of less problematic narratives and subject positions to emerge.

  1. An evolutionary analysis of the Secoviridae family of viruses.

    Directory of Open Access Journals (Sweden)

    Jeremy R Thompson

    Full Text Available The plant-infecting Secoviridae family of viruses forms part of the Picornavirales order, an important group of non-enveloped viruses that infect vertebrates, arthropods, plants and algae. The impact of the secovirids on cultivated crops is significant, infecting a wide range of plants from grapevine to rice. The overwhelming majority are transmitted by ecdysozoan vectors such as nematodes, beetles and aphids. In this study, we have applied a variety of computational methods to examine the evolutionary traits of these viruses. Strong purifying selection pressures were calculated for the coat protein (CP sequences of nine species, although for two species evidence of both codon specific and episodic diversifying selection were found. By using Bayesian phylogenetic reconstruction methods CP nucleotide substitution rates for four species were estimated to range from between 9.29×10(-3 to 2.74×10(-3 (subs/site/year, values which are comparable with the short-term estimates of other related plant- and animal-infecting virus species. From these data, we were able to construct a time-measured phylogeny of the subfamily Comovirinae that estimated divergence of ninety-four extant sequences occurred less than 1,000 years ago with present virus species diversifying between 50 and 250 years ago; a period coinciding with the intensification of agricultural practices in industrial societies. Although recombination (modularity was limited to closely related taxa, significant and often unique similarities in the protein domains between secovirid and animal infecting picorna-like viruses, especially for the protease and coat protein, suggested a shared ancestry. We discuss our results in a wider context and find tentative evidence to indicate that some members of the Secoviridae might have their origins in insects, possibly colonizing plants in a number of founding events that have led to speciation. Such a scenario; virus infection between species of

  2. SeqHBase: a big data toolset for family based sequencing data analysis.

    Science.gov (United States)

    He, Min; Person, Thomas N; Hebbring, Scott J; Heinzen, Ethan; Ye, Zhan; Schrodi, Steven J; McPherson, Elizabeth W; Lin, Simon M; Peissig, Peggy L; Brilliant, Murray H; O'Rawe, Jason; Robison, Reid J; Lyon, Gholson J; Wang, Kai

    2015-04-01

    Whole-genome sequencing (WGS) and whole-exome sequencing (WES) technologies are increasingly used to identify disease-contributing mutations in human genomic studies. It can be a significant challenge to process such data, especially when a large family or cohort is sequenced. Our objective was to develop a big data toolset to efficiently manipulate genome-wide variants, functional annotations and coverage, together with conducting family based sequencing data analysis. Hadoop is a framework for reliable, scalable, distributed processing of large data sets using MapReduce programming models. Based on Hadoop and HBase, we developed SeqHBase, a big data-based toolset for analysing family based sequencing data to detect de novo, inherited homozygous, or compound heterozygous mutations that may contribute to disease manifestations. SeqHBase takes as input BAM files (for coverage at every site), variant call format (VCF) files (for variant calls) and functional annotations (for variant prioritisation). We applied SeqHBase to a 5-member nuclear family and a 10-member 3-generation family with WGS data, as well as a 4-member nuclear family with WES data. Analysis times were almost linearly scalable with number of data nodes. With 20 data nodes, SeqHBase took about 5 secs to analyse WES familial data and approximately 1 min to analyse WGS familial data. These results demonstrate SeqHBase's high efficiency and scalability, which is necessary as WGS and WES are rapidly becoming standard methods to study the genetics of familial disorders. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  3. Genome-wide identification and phylogenetic analysis of the ERF gene family in cucumbers

    Directory of Open Access Journals (Sweden)

    Lifang Hu

    2011-01-01

    Full Text Available Members of the ERF transcription-factor family participate in a number of biological processes, viz., responses to hormones, adaptation to biotic and abiotic stress, metabolism regulation, beneficial symbiotic interactions, cell differentiation and developmental processes. So far, no tissue-expression profile of any cucumber ERF protein has been reported in detail. Recent completion of the cucumber full-genome sequence has come to facilitate, not only genome-wide analysis of ERF family members in cucumbers themselves, but also a comparative analysis with those in Arabidopsis and rice. In this study, 103 hypothetical ERF family genes in the cucumber genome were identified, phylogenetic analysis indicating their classification into 10 groups, designated I to X. Motif analysis further indicated that most of the conserved motifs outside the AP2/ERF domain, are selectively distributed among the specific clades in the phylogenetic tree. From chromosomal localization and genome distribution analysis, it appears that tandem-duplication may have contributed to CsERF gene expansion. Intron/exon structure analysis indicated that a few CsERFs still conserved the former intron-position patterns existent in the common ancestor of monocots and eudicots. Expression analysis revealed the widespread distribution of the cucumber ERF gene family within plant tissues, thereby implying the probability of their performing various roles therein. Furthermore, members of some groups presented mutually similar expression patterns that might be related to their phylogenetic groups.

  4. Glucose-6-Phosphate Dehydrogenase Deficiency among Male Blood Donors in Sana’a City, Yemen

    Science.gov (United States)

    Al-Nood, Hafiz A.; Bazara, Fakiha A.; Al-Absi, Rashad; Habori, Molham AL

    2012-01-01

    Objectives To determine the prevalence of Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency among Yemeni people from different regions of the country living in the capital city, Sana’a, giving an indication of its overall prevalence in Yemen. Methods A cross-sectional study was conducted among Yemeni male blood donors attending the Department of Blood Bank at the National Centre of the Public Health Laboratories in the capital city, Sana’a, Yemen. Fluorescent spot method was used for screening, spectrophotometeric estimation of G-6-PD activity and separation by electrophoresis was done to determine the G-6-PD phenotype. Results Of the total 508 male blood donors recruited into the study, 36 were G-6-PD deficient, giving a likely G-6-PD deficiency prevalence of 7.1%. None of these deficient donors had history of anemia or jaundice. Thirty-five of these deficient cases (97.2%) showed severe G-6-PD deficiency class II (<10% of normal activity), and their phenotyping presumptively revealed a G-6-PD-Mediterranean variant. Conclusion The results showed a significant presence of G-6-PD deficiency with predominance of a severe G-6-PD deficiency type in these blood donors in Sana’a City, which could represent an important health problem through occurrence of hemolytic anemia under oxidative stress. A larger sample size is needed to determine the overall prevalence of G-6-PD deficiency, and should be extended to include DNA analysis to identify its variants in Yemen. PMID:22359725

  5. Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.

    Science.gov (United States)

    Acevedo, A C; Santos, L J S; Paula, L M; Dong, J; MacDougall, M

    2009-01-01

    The aim of this study was to perform phenotype analysis and dentin sialophosphoprotein (DSPP) mutational analysis on 3 Brazilian families diagnosed with dentinogenesis imperfecta type II (DGI-II) attending the Dental Anomalies Clinic in Brasilia, Brazil. Physical and oral examinations, as well as radiographic and histopathological analyses, were performed on 28 affected and unaffected individuals. Clinical, radiographic and histopathological analyses confirmed the diagnosis of DGI-II in 19 individuals. Pulp stones were observed in ground sections of several teeth in 2 families, suggesting that obliteration of pulp chambers and root canals results from the growth of these nodular structures. Mutational DSPP gene analysis of representative affected family members revealed 7 various non-disease-causing alterations in exons 1-4 within the dentin sialoprotein domain. Further longitudinal studies are necessary to elucidate the progression of pulpal obliteration in the DGI-II patients studied as well as the molecular basis of their disease.

  6. The FIRO model of family therapy: implications of factor analysis.

    Science.gov (United States)

    Hafner, R J; Ross, M W

    1989-11-01

    Schutz's FIRO model contains three main elements: inclusion, control, and affection. It is used widely in mental health research and practice, but has received little empirical validation. The present study is based on factor analysis of the resources to FIRO questionnaire of 120 normal couples and 191 couples who were attending a clinic for marital/psychiatric problems. Results confirmed the validity of the FIRO model for women only. The differences between the sexes reflected a considerable degree of sex-role stereotyping, the clinical implications of which are discussed.

  7. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family

    Science.gov (United States)

    de Aquino, Sibele-Nascimento; Paranaíba, Lívia-Maris-R.; Gomes, Andreia; dos-Santos-Neto, Pedro; Coletta, Ricardo-D.; Cardoso, Aline-Francoise; Frota, Ana-Cláudia; Martelli-Júnior, Hercílio

    2016-01-01

    Background The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. Conclusions These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1. Key words:Waardenburg syndrome, hearing loss, oral manifestations, mutation. PMID:27031059

  8. Family Presence during Resuscitation: A Qualitative Analysis from a National Multicenter Randomized Clinical Trial.

    Directory of Open Access Journals (Sweden)

    Carla De Stefano

    Full Text Available The themes of qualitative assessments that characterize the experience of family members offered the choice of observing cardiopulmonary resuscitation (CPR of a loved one have not been formally identified.In the context of a multicenter randomized clinical trial offering family members the choice of observing CPR of a patient with sudden cardiac arrest, a qualitative analysis, with a sequential explanatory design, was conducted. The aim of the study was to understand family members' experience during CPR. All participants were interviewed by phone at home three months after cardiac arrest. Saturation was reached after analysis of 30 interviews of a randomly selected sample of 75 family members included in the trial. Four themes were identified: 1- choosing to be actively involved in the resuscitation; 2- communication between the relative and the emergency care team; 3- perception of the reality of the death, promoting acceptance of the loss; 4- experience and reactions of the relatives who did or did not witness the CPR, describing their feelings. Twelve sub-themes further defining these four themes were identified. Transferability of our findings should take into account the country-specific medical system.Family presence can help to ameliorate the pain of the death, through the feeling of having helped to support the patient during the passage from life to death and of having participated in this important moment. Our results showed the central role of communication between the family and the emergency care team in facilitating the acceptance of the reality of death.

  9. Genome-Wide Identification, Characterization and Expression Analysis of the Chalcone Synthase Family in Maize.

    Science.gov (United States)

    Han, Yahui; Ding, Ting; Su, Bo; Jiang, Haiyang

    2016-01-27

    Members of the chalcone synthase (CHS) family participate in the synthesis of a series of secondary metabolites in plants, fungi and bacteria. The metabolites play important roles in protecting land plants against various environmental stresses during the evolutionary process. Our research was conducted on comprehensive investigation of CHS genes in maize (Zea mays L.), including their phylogenetic relationships, gene structures, chromosomal locations and expression analysis. Fourteen CHS genes (ZmCHS01-14) were identified in the genome of maize, representing one of the largest numbers of CHS family members identified in one organism to date. The gene family was classified into four major classes (classes I-IV) based on their phylogenetic relationships. Most of them contained two exons and one intron. The 14 genes were unevenly located on six chromosomes. Two segmental duplication events were identified, which might contribute to the expansion of the maize CHS gene family to some extent. In addition, quantitative real-time PCR and microarray data analyses suggested that ZmCHS genes exhibited various expression patterns, indicating functional diversification of the ZmCHS genes. Our results will contribute to future studies of the complexity of the CHS gene family in maize and provide valuable information for the systematic analysis of the functions of the CHS gene family.

  10. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families

    Institute of Scientific and Technical Information of China (English)

    Qi Cai; Meng-Hong Sun; Hong-Fen Lu; Tai-Ming Zhang; Shan-Jing Mo; Ye Xu; San-Jun Cai; Xiong-Zeng Zhu; Da-Ren Shi

    2001-01-01

    AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER +phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1 ), which had not been reported previously, were identified. The same mutations were also found in otler affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismstch repair genes. High-level microsateliita instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of miamstch repair gens might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.

  11. The Impact on Family Functioning of Social Media Use by Depressed Adolescents: A Qualitative Analysis of the Family Options Study

    OpenAIRE

    Lewis, Andrew J; Knight, Tess; Germanov, Galit; Benstead, Michelle Lisa; Joseph, Claire Ingrid; Poole, Lucinda

    2015-01-01

    Background Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents. Method The current study draws upon data collected from parents within the family options randomized controlled trial that examined family ...

  12. The impact on family functioning of social media use by depressed adolescents: a qualitative analysis of the Family Options Study

    OpenAIRE

    Andrew James Lewis; Tess eKnight; Galit eGermanov; Michelle Lisa Benstead; Claire Ingrid Joseph; Lucinda ePoole

    2015-01-01

    Background: Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents.Method: The current study draws upon data collected within the Family Options randomized controlled trial that examined family-based interventions for...

  13. The Impact on Family Functioning of Social Media Use by Depressed Adolescents: A Qualitative Analysis of the Family Options Study

    OpenAIRE

    Andrew James Lewis; Tess eKnight; Galit eGermanov; Michelle Lisa Benstead; Claire Ingrid Joseph; Lucinda ePoole

    2015-01-01

    Background: Adolescent depression is a prevalent mental health problem, which can have a major impact on family cohesion. In such circumstances, excessive use of the Internet by adolescents may exacerbate family conflict and lack of cohesion. The current study aims to explore these patterns within an intervention study for depressed adolescents.Method: The current study draws upon data collected within the Family Options randomized controlled trial that examined family-based interventions for...

  14. Correlation Analysis of Personality Characteristics of Children with TIC Disorder with Family Factors

    Institute of Scientific and Technical Information of China (English)

    LI Rui; WANG Liqun; MA Chunxia; MA Lixian

    2016-01-01

    Objective To explore the personality characteristics of children with tic disorders and their relationship with family factors.Methods Sixty cases of children with tic disorders diagnosed in our hospital were selected as the case group and 65 cases of normal children were selected as the control group.The children of two groups were assessed using Eysenck Personality Questionnaire (EPQ),Family Environment Scale (FES-CV) and general situation questionnaire of family (GSQ),respectively.The scores of EPQ personality characteristics,FES-CV and GSQ scores were compared for the children in the two groups.The Person correlation analysis method was used to analyze the correlation between personality scores of children in case group and family environment factors.Results The general situation questionnaire results showed that there was significant statistically difference in parenting style,parental education level and family types of the children between case group and control group (P < 0.05);EPQ results showed that the neuroticism and psychoticism scores of children in the case group were significantly higher than those in the control group (P< 0.05) and the lying degree scores in the control group were significantly higher than those in the case group (P< 0.05);FES-CV results showed that the family cohesion scores of the case group were significantly lower than those of the control group (P<0.05),and the family conflict scores in the case group were significantly higher than those in the control group (P<0.05).The Person correlation analysis results indicated that the psychoticism score was negatively correlated with the score of family cohesion (P<0.05),and positively correlated with family conflict (P<0.05),while the neuroticism score was positively correlated with family conflict score (P<0.05).Conclusion The children with tic disorders have significant personality deviation compared to the normal children,and the personality deviation degree is

  15. Analysis of Five Differentially Expressed Gene Families in Fast Elongating Cotton Fiber

    Institute of Scientific and Technical Information of China (English)

    Jian-Xun FENG; Sheng-Jian JI; Yong-Hui SHI; Yu XU; Gang WEI; Yu-Xian ZHU

    2004-01-01

    Using the suppression subtractive hybridization method, we isolated five gene families,including proline-rich proteins (PRPs), arabinogalactan proteins (AGPs), expansins, tubulins and lipid transfer proteins (LTPs), from fast elongating cotton fiber cells. Expression profile analysis using cDNA array technology showed that most of these gene families were highly expressed during early cotton fiber developmental stages (0-20 days post anthesis, DPA). Many transcripts accumulated over 50-fold in 10 DPA fiber cells than in 0 DPA samples. The entire gene family-AGP, together with 20 individual members in other 4 gene families, are reported in cotton for the first time. Accumulation of cell wall proteins, wall loosening enzymes, microtubules and lipid transfer proteins may contribute directly to the elongation and development of fiber cells.

  16. Genetic analysis of the cytoplasmic dynein subunit families.

    Directory of Open Access Journals (Sweden)

    K Kevin Pfister

    2006-01-01

    Full Text Available Cytoplasmic dyneins, the principal microtubule minus-end-directed motor proteins of the cell, are involved in many essential cellular processes. The major form of this enzyme is a complex of at least six protein subunits, and in mammals all but one of the subunits are encoded by at least two genes. Here we review current knowledge concerning the subunits, their interactions, and their functional roles as derived from biochemical and genetic analyses. We also carried out extensive database searches to look for new genes and to clarify anomalies in the databases. Our analysis documents evolutionary relationships among the dynein subunits of mammals and other model organisms, and sheds new light on the role of this diverse group of proteins, highlighting the existence of two cytoplasmic dynein complexes with distinct cellular roles.

  17. Modeling and structural analysis of evolutionarily diverse S8 family serine proteases.

    Science.gov (United States)

    Laskar, Aparna; Rodger, Euan James; Chatterjee, Aniruddha; Mandal, Chhabinath

    2011-01-01

    Serine proteases are an abundant class of enzymes that are involved in a wide range of physiological processes and are classified into clans sharing structural homology. The active site of the subtilisin-like clan contains a catalytic triad in the order Asp, His, Ser (S8 family) or a catalytic tetrad in the order Glu, Asp and Ser (S53 family). The core structure and active site geometry of these proteases is of interest for many applications. The aim of this study was to investigate the structural properties of different S8 family serine proteases from a diverse range of taxa using molecular modeling techniques. In conjunction with 12 experimentally determined three-dimensional structures of S8 family members, our predicted structures from an archaeon, protozoan and a plant were used for analysis of the catalytic core. Amino acid sequences were obtained from the MEROPS database and submitted to the LOOPP server for threading based structure prediction. The predicted structures were refined and validated using PROCHECK, SCRWL and MODELYN. Investigation of secondary structures and electrostatic surface potential was performed using MOLMOL. Encompassing a wide range of taxa, our structural analysis provides an evolutionary perspective on S8 family serine proteases. Focusing on the common core containing the catalytic site of the enzyme, the analysis presented here is beneficial for future molecular modeling strategies and structure-based rational drug design.

  18. Genome-wide Analysis of Plant-specific Dof Transcription Factor Family in Tomato

    Institute of Scientific and Technical Information of China (English)

    Xiaofeng Cai; Yuyang Zhang; Chanjuan Zhang; Tingyan Zhang; Tixu Hu; Jie Ye; Junhong Zhang

    2013-01-01

    The Dof (DNA binding with One Finger) family encoding single zinc finger proteins has been known as a family of plant-specific transcription factors.These transcription factors are involved in a variety of functions of importance for different biological processes in plants.In the current study,we identified 34 Dof family genes in tomato (Solanum lycopersicum L.),distributed on 11 chromosomes.A complete overview of SIDof genes in tomato is presented,including the gene structures,chromosome locations,phylogeny,protein motifs and evolution pattern.Phylogenetic analysis of 34 SlDof proteins resulted in four classes constituting six clusters.In addition,a comparative analysis between these genes in tomato,Arabidopsis (Arabidopsis thaliana L.) and rice (Oryza sativa L.) was also performed.The tomato Dof family expansion has been dated to recent duplication events,and segmental duplication is predominant for the SlDof genes.Furthermore,the SlDof genes displayed differential expression either in their transcript abundance or in their expression patterns under normal growth conditions.This is the first step towards genome-wide analyses of the Dof genes in tomato.Our study provides a very useful reference for cloning and functional analysis of the members of this gene family in tomato and other species.

  19. Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene

    DEFF Research Database (Denmark)

    Sharon, Dror; Al-Hamdani, Sermed; Engelsberg, Karl

    2014-01-01

    -segregation analysis. Clinical investigations included electro-oculography, full-field electroretinography, multifocal electroretinography, spectral-domain optical coherence tomography, and fundus autofluorescence imaging. Immunohistochemical analysis was performed. main outcome measures: BEST1 mutations, imaging......PURPOSE: To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy; to investigate whether Bestrophin may be expressed in normal human retina. DESIGN: Retrospective clinical and molecular genetic analysis...... and immunohistochemical observational study. METHODS: setting: National referral center. participants: A family with 5 individuals and biallelic BEST1 mutations, and enucleated eyes from 2 individuals with nonaffected retinas. observation procedures: Molecular genetic analysis included sequencing of BEST1 and co...

  20. A method comparison of photovoice and content analysis: research examining challenges and supports of family caregivers.

    Science.gov (United States)

    Faucher, Mary Ann; Garner, Shelby L

    2015-11-01

    The purpose of this manuscript is to compare methods and thematic representations of the challenges and supports of family caregivers identified with photovoice methodology contrasted with content analysis, a more traditional qualitative approach. Results from a photovoice study utilizing a participatory action research framework was compared to an analysis of the audio-transcripts from that study utilizing content analysis methodology. Major similarities between the results are identified with some notable differences. Content analysis provides a more in-depth and abstract elucidation of the nature of the challenges and supports of the family caregiver. The comparison provides evidence to support the trustworthiness of photovoice methodology with limitations identified. The enhanced elaboration of theme and categories with content analysis may have some advantages relevant to the utilization of this knowledge by health care professionals. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Genome-wide analysis of Aux/IAA and ARF gene families in Populus trichocarpa

    Energy Technology Data Exchange (ETDEWEB)

    Kalluri, Udaya C [ORNL; DiFazio, Stephen P [West Virginia University; Brunner, A. [Virginia Polytechnic Institute and State University (Virginia Tech); Tuskan, Gerald A [ORNL

    2007-01-01

    Auxin/Indole-3-Acetic Acid (Aux/IAA) and Auxin Response Factor (ARF) transcription factors are key regulators of auxin responses in plants. A total of 35 Aux/IAA and 39 ARF genes were identified in the Populus genome. Comparative phylogenetic analysis revealed that the subgroups PoptrARF2, 6, 9 and 16 and PoptrIAA3, 16, 27 and 29 have differentially expanded in Populus relative to Arabidopsis. Activator ARFs were found to be two fold-overrepresented in the Populus genome. PoptrIAA and PoptrARF gene families appear to have expanded due to high segmental and low tandem duplication events. Furthermore, expression studies showed that genes in the expanded PoptrIAA3 subgroup display differential expression. The gene-family analysis reported here will be useful in conducting future functional genomics studies to understand how the molecular roles of these large gene families translate into a diversity of biologically meaningful auxin effects.

  2. Phylogenetic analysis of 48 gene families revealing relationships between Hagfishes, Lampreys, and Gnathostomata

    Institute of Scientific and Technical Information of China (English)

    Shuiyan Yu; Weiwei Zhang; Ling Li; Huifang Huang; Fei Ma; Qingwei Li

    2008-01-01

    It has become clear that the extant vertebrates are divided into three major groups, that is, hagfishes, lampreys, and jawed vertebrates.Morphological and molecular studies, however, have resulted in conflicting views with regard m their interrelationships. To clarify the phylogenetic relationships between them, 48 orthologous protein-coding gene families were analyzed. Even as the analysis of 34 nuclear gene families supported the monophyly of cyclostomes, the analysis of 14 mitochondrial gene families suggested a closer relationship between lampreys and gnathostomes compared to hagfishes. Lampreys were sister group of gnathostomes. The results of this study sup-ported the eyclostomes. Choice of outgroup, tree-making methods, and software may affect the phylogenetic prediction, which may have caused much debate over the subject. Development of new methods for tackling such problems is still necessary.

  3. Phylogenetic analysis and positive-selection site detecting of vascular endothelial growth factor family in vertebrates.

    Science.gov (United States)

    He, Wenwu; Tang, Yanyan; Qi, Bin; Lu, Chuansen; Qin, Chao; Wei, Yunfei; Yi, Jiachao; Chen, Mingwu

    2014-02-10

    Vascular endothelial growth factor (VEGF), known to play an important role in vascular homeostasis, vascular integrity and angiogenesis, is little known about the evolutionary relationship of its five members especially the role of gene duplication and natural selection in the evolution of the VEGF family. In this study, seventy-five full-length cDNA sequences from 33 vertebrate species were extracted from the NCBI's GenBank, UniProt protein database and the Ensembl database. By phylogenetic analyses, we investigated the origin, conservation, and evolution of the VEGFs. Five VEGF family members in vertebrates might be formed by gene duplication. The inferred evolutionary transitions that separate members which belong to different gene clusters correlated with changes in functional properties. Selection analysis and protein structure analysis were combined to explain the relationship of the site-specific evolution in the vertebrate VEGF family. Eleven positive selection sites, one transmembrane region and the active sites were detected in this process.

  4. Enhancing family advocacy networks: an analysis of the roles of sponsoring organizations.

    Science.gov (United States)

    Briggs, H E; Koroloff, N M

    1995-08-01

    Family participation in shaping system reforms in children's mental health has increased over the past ten years. In 1990 the National Institute of Mental Health funded the development and enhancement of 15 statewide advocacy organizations that were to be controlled and staffed by families of children who have serious emotional disorders. These family advocacy organizations had three major goals: to establish support networks, to advocate for service system reforms, and to develop statewide family advocacy networks. Seven family advocacy networks worked with sponsoring organizations because they needed assistance and/or could not receive funding directly. State and local chapters of the National Alliance for the Mentally Ill and the National Mental Health Association served in this capacity. Because there were no guidelines to educate sponsoring organizations about their interorganizational roles and responsibilities, staff of some sponsoring organizations used approaches that were supportive and effective, while staff in other organizations used methods that were counterproductive. The information and recommendations discussed in this paper are based on evaluation data and observations of the relationships between seven sponsoring organizations and family advocacy groups over a three-year period. This paper proposes a conceptual framework that includes: (1) a clear definition of the sponsoring organization's roles, and (2) an analysis of the advantages, limitations, and critical issues for the sponsoring organization.

  5. Key Elements of a Family Intervention for Schizophrenia: A Qualitative Analysis of an RCT.

    Science.gov (United States)

    Grácio, Jaime; Gonçalves-Pereira, Manuel; Leff, Julian

    2016-11-29

    Schizophrenia is a complex biopsychosocial condition in which expressed emotion in family members is a robust predictor of relapse. Not surprisingly, family interventions are remarkably effective and thus recommended in current treatment guidelines. Their key elements seem to be common therapeutic factors, followed by education and coping skills training. However, few studies have explored these key elements and the process of the intervention itself. We conducted a qualitative and quantitative analysis of the records from a pioneering family intervention trial addressing expressed emotion, published by Leff and colleagues four decades ago. Records were analyzed into categories and data explored using descriptive statistics. This was complemented by a narrative evaluation using an inductive approach based on emotional markers and markers of change. The most used strategies in the intervention were addressing needs, followed by coping skills enhancement, advice, and emotional support. Dealing with overinvolvement and reframing were the next most frequent. Single-family home sessions seemed to augment the therapeutic work conducted in family groups. Overall the intervention seemed to promote cognitive and emotional change in the participants, and therapists were sensitive to the emotional trajectory of each subject. On the basis of our findings, we developed a longitudinal framework for better understanding the process of this treatment approach. © 2016 Family Process Institute.

  6. Family background variables as instruments for education in income regressions: A Bayesian analysis

    NARCIS (Netherlands)

    L.F. Hoogerheide (Lennart); J.H. Block (Jörn); A.R. Thurik (Roy)

    2012-01-01

    textabstractThe validity of family background variables instrumenting education in income regressions has been much criticized. In this paper, we use data from the 2004 German Socio-Economic Panel and Bayesian analysis to analyze to what degree violations of the strict validity assumption affect the

  7. Structural brain network analysis in families multiply affected with bipolar I disorder

    NARCIS (Netherlands)

    Forde, Natalie J.; O'Donoghue, Stefani; Scanlon, Cathy; Emsell, Louise; Chaddock, Chris; Leemans, Alexander; Jeurissen, Ben; Barker, Gareth J.; Cannon, Dara M.; Murray, Robin M.; McDonald, Colm

    2015-01-01

    Disrupted structural connectivity is associated with psychiatric illnesses including bipolar disorder (BP). Here we use structural brain network analysis to investigate connectivity abnormalities in multiply affected BP type I families, to assess the utility of dysconnectivity as a biomarker and its

  8. Obituary Analysis of Early 20th Century Marriage and Family Patterns in Northwest Ohio.

    Science.gov (United States)

    Matcha, Duane A.

    1995-01-01

    A content analysis of obituary notices spanning a one-year period. Examined marital and family patterns such as age at marriage, length of marriage, marital status at time of death, and other factors. Single women had the highest average age at death. Patterns were less consistent among men. (RJM)

  9. A View of the Symbolic-Experiential Family Therapy of Carl Whitaker through Movie Analysis

    Science.gov (United States)

    Cag, Pinar; Voltan Acar, Nilufer

    2015-01-01

    The movie "Ya Sonra" is evaluated in respect to the basic concepts and principles of symbolic-experiential family therapy. Carl Whitaker, who called his approach "Psychotherapy of Absurdity" mainly emphasized the concepts of absurdity, experientiality, and symbolism. Based on the hypothesis that film analysis supports and…

  10. Analysis of AGXT gene mutation in primary hyperoxaluria type I family

    Institute of Scientific and Technical Information of China (English)

    高延霞

    2014-01-01

    Objective To describe the clinical characteristics,and to analyze the AGXT gene mutation in three siblings with primary hyperoxaluria typeⅠ(PHI).Methods AGXT gene mutation was analyzed by direct sequencing analysis in this family,and the minor allele status was also tested.One hundred unrelated healthy subjects were also analyzed as controls.Results Three mutations in

  11. A Critical Discourse Analysis of Gisela's Family Story: A Construal of Deportation, Illegal Immigrants, and Literacy

    Science.gov (United States)

    Abraham, Stephanie

    2015-01-01

    In this paper, I use critical discourse analysis to analyze a student's narrative about the arrest, incarceration, and deportation of her mother to Mexico. The student, Gisela, was a fifth grader in my classroom during the 2008/2009 school year, and I encouraged the students to collect family stories from their relatives. Gisela created this…

  12. Phase Transitions in Planning Problems: Design and Analysis of Parameterized Families of Hard Planning Problems

    Science.gov (United States)

    Hen, Itay; Rieffel, Eleanor G.; Do, Minh; Venturelli, Davide

    2014-01-01

    There are two common ways to evaluate algorithms: performance on benchmark problems derived from real applications and analysis of performance on parametrized families of problems. The two approaches complement each other, each having its advantages and disadvantages. The planning community has concentrated on the first approach, with few ways of generating parametrized families of hard problems known prior to this work. Our group's main interest is in comparing approaches to solving planning problems using a novel type of computational device - a quantum annealer - to existing state-of-the-art planning algorithms. Because only small-scale quantum annealers are available, we must compare on small problem sizes. Small problems are primarily useful for comparison only if they are instances of parametrized families of problems for which scaling analysis can be done. In this technical report, we discuss our approach to the generation of hard planning problems from classes of well-studied NP-complete problems that map naturally to planning problems or to aspects of planning problems that many practical planning problems share. These problem classes exhibit a phase transition between easy-to-solve and easy-to-show-unsolvable planning problems. The parametrized families of hard planning problems lie at the phase transition. The exponential scaling of hardness with problem size is apparent in these families even at very small problem sizes, thus enabling us to characterize even very small problems as hard. The families we developed will prove generally useful to the planning community in analyzing the performance of planning algorithms, providing a complementary approach to existing evaluation methods. We illustrate the hardness of these problems and their scaling with results on four state-of-the-art planners, observing significant differences between these planners on these problem families. Finally, we describe two general, and quite different, mappings of planning

  13. Genome-wide identification, classification and analysis of heat shock transcription factor family in maize

    Directory of Open Access Journals (Sweden)

    Zhu Su-Wen

    2011-01-01

    Full Text Available Abstract Background Heat shock response in eukaryotes is transcriptionally regulated by conserved heat shock transcription factors (Hsfs. Hsf genes are represented by a large multigene family in plants and investigation of the Hsf gene family will serve to elucidate the mechanisms by which plants respond to stress. In recent years, reports of genome-wide structural and evolutionary analysis of the entire Hsf gene family have been generated in two model plant systems, Arabidopsis and rice. Maize, an important cereal crop, has represented a model plant for genetics and evolutionary research. Although some Hsf genes have been characterized in maize, analysis of the entire Hsf gene family were not completed following Maize (B73 Genome Sequencing Project. Results A genome-wide analysis was carried out in the present study to identify all Hsfs maize genes. Due to the availability of complete maize genome sequences, 25 nonredundant Hsf genes, named ZmHsfs were identified. Chromosomal location, protein domain and motif organization of ZmHsfs were analyzed in maize genome. The phylogenetic relationships, gene duplications and expression profiles of ZmHsf genes were also presented in this study. Twenty-five ZmHsfs were classified into three major classes (class A, B, and C according to their structural characteristics and phylogenetic comparisons, and class A was further subdivided into 10 subclasses. Moreover, phylogenetic analysis indicated that the orthologs from the three species (maize, Arabidopsis and rice were distributed in all three classes, it also revealed diverse Hsf gene family expression patterns in classes and subclasses. Chromosomal/segmental duplications played a key role in Hsf gene family expansion in maize by investigation of gene duplication events. Furthermore, the transcripts of 25 ZmHsf genes were detected in the leaves by heat shock using quantitative real-time PCR. The result demonstrated that ZmHsf genes exhibit different

  14. A critical methodological review of discourse and conversation analysis studies of family therapy.

    Science.gov (United States)

    Tseliou, Eleftheria

    2013-12-01

    Discourse (DA) and conversation (CA) analysis, two qualitative research methods, have been recently suggested as potentially promising for the study of family therapy due to common epistemological adherences and their potential for an in situ study of therapeutic dialog. However, to date, there is no systematic methodological review of the few existing DA and CA studies of family therapy. This study aims at addressing this lack by critically reviewing published DA and CA studies of family therapy on methodological grounds. Twenty-eight articles in total are reviewed in relation to certain methodological axes identified in the relevant literature. These include choice of method, framing of research question(s), data/sampling, type of analysis, epistemological perspective, content/type of knowledge claims, and attendance to criteria for good quality practice. It is argued that the reviewed studies show "glimpses" of the methods' potential for family therapy research despite the identification of certain "shortcomings" regarding their methodological rigor. These include unclearly framed research questions and the predominance of case study designs. They also include inconsistencies between choice of method, stated or unstated epistemological orientations and knowledge claims, and limited attendance to criteria for good quality practice. In conclusion, it is argued that DA and CA can add to the existing quantitative and qualitative methods for family therapy research. They can both offer unique ways for a detailed study of the actual therapeutic dialog, provided that future attempts strive for a methodologically rigorous practice and against their uncritical deployment. © FPI, Inc.

  15. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  16. [Analysis of family influence factors of quality of life about vision].

    Science.gov (United States)

    Dou, Yirong; Wang, Hong; Cao, Xingyuan; Yuan, Baocheng; Chen, Jiaxu

    2015-09-01

    To explore the QOL About Vision of students and its family influence factors. 4096 students and 3740 parents were chosen from 8 primary and middle schools by stratified cluster random sampling in the suburbs and the urban area of Chongqing, surveyed with questionnaire by a QOL about vision for primary and middle school students, Family factors questionnaire (including parents' education, occupation, be myopia or not,family economic status etc.). The total score of QOL about vision among boys (92. 13 ± 12. 50) were more than girls > (90. 08 ± 12. 82), more and more as grade-grouping (96. 39 ± 9. 72 >90. 35 ±12. 07 >83. 45 ± 13. 46). The total score of rural students (91. 46 ± 12. 87) were more than that of urban students > (90. 84 ± 12. 54). The results for single factor analysis indicated that there were significant difference between different parents' degree of education,distance between eye and TV set, whether or not encouraging movement. The results of general linear regression analysis indicated that parents' degree of education and distance between eye and TV set were main factors which influence the students' QOL about vision. Family factors were main factors of QOL about vision.family should be one of the key intervention place.

  17. Analysis of factor VIII gene inversions in 164 unrelated hemophilia A families

    Energy Technology Data Exchange (ETDEWEB)

    Vnencak-Jones, L.; Phillips, J.A. III; Janco, R.L. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)] [and others

    1994-09-01

    Hemophilia A is an X-linked recessive disease with variable phenotype and both heterogeneous and wide spread mutations in the factor VIII (F8) gene. As a result, diagnostic carrier or prenatal testing often relies upon laborious DNA linkage analysis. Recently, inversion mutations resulting from an intrachromosomal recombination between DNA sequences in one of two A genes {approximately}500 kb upstream from the F8 gene and a homologous A gene in intron 22 of the F8 gene were identified and found in 45% of severe hemophiliacs. We have analyzed banked DNA collected since 1986 from affected males or obligate carrier females representing 164 unrelated hemophilia A families. The disease was sporadic in 37%, familial in 54% and in 10% of families incomplete information was given. A unique deletion was identified in 1/164, a normal pattern was observed in 110/164 (67%), and 53/164 (32%) families had inversion mutations with 43/53 (81%) involving the distal A gene (R3 pattern) and 10/53 (19%) involving the proximal A gene (R2 pattern). While 19% of all rearrangements were R2, in 35 families with severe disease (< 1% VIII:C activity) all 16 rearrangements seen were R3. In 18 families with the R3 pattern and known activities, 16 (89%) had levels < 1%, with the remaining 2 families having {le} 2.4% activity. Further, 18 referrals specifically noted the production of inhibitors and 8/18 (45%) had the R3 pattern. Our findings demonstrate that the R3 inversion mutation patterns is (1) only seen with VIII:C activity levels of {le} 2.4%, (2) seen in 46% of families with severe hemophilia, (3) seen in 45% of hemophiliacs known to have inhibitors, (4) not correlated with sporadic or familial disease and (5) not in disequilibrium with the Bcl I or Taq I intron 18 or ST14 polymorphisms. Finally, in families positive for an inversion mutation, direct testing offers a highly accurate and less expensive alternative to DNA linkage analysis.

  18. Parents' psychological adjustment in families of children with Spina Bifida: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Bosman Anna MT

    2005-08-01

    Full Text Available Abstract Background Spina Bifida (SB is the second most common birth defect worldwide. Since the chances of survival in children with severe SB-forms have increased, medical care has shifted its emphasis from life-saving interventions to fostering the quality of life for these children and their families. Little is known, however, about the impact of SB on family adjustment. Reviewers have struggled to synthesize the few contradictory studies available. In this systematic review a new attempt was made to summarize the findings by using meta-analysis and by delimiting the scope of review to one concept of family adjustment: Parents' psychological adjustment. The questions addressed were: (a do parents of children with SB have more psychological distress than controls? (b do mothers and fathers differ? and (c which factors correlate with variations in psychological adjustment? Methods PsycInfo, Medline, and reference lists were scanned. Thirty-three relevant studies were identified of which 15 were eligible for meta-analysis. Results SB had a negative medium-large effect on parents' psychological adjustment. The effect was more heterogeneous for mothers than for fathers. In the reviewed studies child factors (age, conduct problems, emotional problems, and mental retardation, parent factors (SES, hope, appraised stress, coping, and parenting competence, family factors (family income, partner relationship, and family climate, and environmental factors (social support were found to be associated with variations in parents' psychological adjustment. Conclusion Meta-analysis proved to be helpful in organizing studies. Clinical implications indicate a need to be especially alert to psychological suffering in mothers of children with SB. Future research should increase sample sizes through multi-center collaborations.

  19. Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool

    Energy Technology Data Exchange (ETDEWEB)

    Elyakim, S.; Lerer, I.; Zlotogora, J.; Sagi, M.; Merin, S.; Abeliovich, D. [Hadassah Univ. Hospital, Jerusalem (Israel); Gelman-Kohan, Z. [Hebrew Univ. Hadassah Medical School, Rehovot (Israel)

    1994-12-01

    Linkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at-risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed in 9 pregnancies of 7 families; 5 fetuses were diagnosed as affected. In 6 families with an affected spouse, the request was to identify informative polymorphisms to be used in future pregnancies. Presymptomatic diagnosis was performed in 4 families. One individual, a brother of an NFI patient, was found to have Lisch nodules as the only NFI symptom. Linkage analysis indicated that if this person is a carrier of the NFI gene, he must be a product of intragenic crossover. In 2 individuals with a new NFI mutation, the origin of the NFI-bearing chromosomes was paternal. The same observation was noted by others. A summary of published cases shows that some 90% of the NFI-bearing chromosomes of patients with new mutations were of paternal origin. We therefore suggest that for the purpose of prenatal diagnosis in carriers of NFI new (and unidentified) mutations, the paternal chromosome will be considered as the NFI-bearing chromosome. 49 refs., 4 figs., 3 tabs.

  20. Genome-wide analysis of homeobox gene family in legumes: identification, gene duplication and expression profiling.

    Science.gov (United States)

    Bhattacharjee, Annapurna; Ghangal, Rajesh; Garg, Rohini; Jain, Mukesh

    2015-01-01

    Homeobox genes encode transcription factors that are known to play a major role in different aspects of plant growth and development. In the present study, we identified homeobox genes belonging to 14 different classes in five legume species, including chickpea, soybean, Medicago, Lotus and pigeonpea. The characteristic differences within homeodomain sequences among various classes of homeobox gene family were quite evident. Genome-wide expression analysis using publicly available datasets (RNA-seq and microarray) indicated that homeobox genes are differentially expressed in various tissues/developmental stages and under stress conditions in different legumes. We validated the differential expression of selected chickpea homeobox genes via quantitative reverse transcription polymerase chain reaction. Genome duplication analysis in soybean indicated that segmental duplication has significantly contributed in the expansion of homeobox gene family. The Ka/Ks ratio of duplicated homeobox genes in soybean showed that several members of this family have undergone purifying selection. Moreover, expression profiling indicated that duplicated genes might have been retained due to sub-functionalization. The genome-wide identification and comprehensive gene expression profiling of homeobox gene family members in legumes will provide opportunities for functional analysis to unravel their exact role in plant growth and development.

  1. Genome-wide identification and analysis of FK506-binding protein family gene family in strawberry (Fragaria × ananassa).

    Science.gov (United States)

    Leng, Xiangpeng; Liu, Dan; Zhao, Mizhen; Sun, Xin; Li, Yu; Mu, Qian; Zhu, Xudong; Li, Pengyu; Fang, Jinggui

    2014-01-25

    The FK506 binding proteins (FKBPs) are abundant and ubiquitous proteins belonging to the large peptidyl-prolylcis-trans isomerase superfamily. FKBPs are known to be involved in many biological processes including hormone signaling, plant growth, and stress responses through a chaperone or an isomerization of proline residues during protein folding. The availability of complete strawberry genome sequences allowed the identification of 23 FKBP genes by HMMER and blast analysis. Chromosome scaffold locations of these FKBP genes in the strawberry genome were determined and the protein domain and motif organization of FaFKBPs analyzed. The phylogenetic relationships between strawberry FKBPs were also assessed. The expression profiles of FaFKBPs genes results revealed that most FaFKBPs were expressed in all tissues, while a few FaFKBPs were specifically expressed in some of the tissues. These data not only contribute to some better understanding of the complex regulation of the strawberry FKBP gene family, but also provide valuable information for further research in strawberry functional genomics.

  2. Cross-study analysis of genomic data defines the ciliate multigenic epiplasmin family: strategies for functional analysis in Paramecium tetraurelia

    Directory of Open Access Journals (Sweden)

    Ravet Viviane

    2009-06-01

    Full Text Available Abstract Background The sub-membranous skeleton of the ciliate Paramecium, the epiplasm, is composed of hundreds of epiplasmic scales centered on basal bodies, and presents a complex set of proteins, epiplasmins, which belong to a multigenic family. The repeated duplications observed in the P. tetraurelia genome present an interesting model of the organization and evolution of a multigenic family within a single cell. Results To study this multigenic family, we used phylogenetic, structural, and analytical transcriptional approaches. The phylogenetic method defines 5 groups of epiplasmins in the multigenic family. A refined analysis by Hydrophobic Cluster Analysis (HCA identifies structural characteristics of 51 epiplasmins, defining five separate groups, and three classes. Depending on the sequential arrangement of their structural domains, the epiplasmins are defined as symmetric, asymmetric or atypical. The EST data aid in this classification, in the identification of putative regulating sequences such as TATA or CAAT boxes. When specific RNAi experiments were conducted using sequences from either symmetric or asymmetric classes, phenotypes were drastic. Local effects show either disrupted or ill-shaped epiplasmic scales. In either case, this results in aborted cell division. Using structural features, we show that 4 epiplasmins are also present in another ciliate, Tetrahymena thermophila. Their affiliation with the distinctive structural groups of Paramecium epiplasmins demonstrates an interspecific multigenic family. Conclusion The epiplasmin multigenic family illustrates the history of genomic duplication in Paramecium. This study provides a framework which can guide functional analysis of epiplasmins, the major components of the membrane skeleton in ciliates. We show that this set of proteins handles an important developmental information in Paramecium since maintenance of epiplasm organization is crucial for cell morphogenesis.

  3. What Does Empowerment in Literacy Education Look Like? An Analysis of a Family Literacy Program for Guatemalan Maya Families

    Science.gov (United States)

    Schoorman, Dilys; Zainuddin, Hanizah

    2008-01-01

    Educators in the field of "family literacy" have identified multiple approaches to family literacy programs (FLPs), and have underscored the need to identify and make explicit the philosophical orientations of their own programs. This was the task undertaken in this article, which focused on a FLP in south Florida that served the needs…

  4. What Does Empowerment in Literacy Education Look Like? An Analysis of a Family Literacy Program for Guatemalan Maya Families

    Science.gov (United States)

    Schoorman, Dilys; Zainuddin, Hanizah

    2008-01-01

    Educators in the field of "family literacy" have identified multiple approaches to family literacy programs (FLPs), and have underscored the need to identify and make explicit the philosophical orientations of their own programs. This was the task undertaken in this article, which focused on a FLP in south Florida that served the needs…

  5. What Does Empowerment in Literacy Education Look Like? An Analysis of a Family Literacy Program for Guatemalan Maya Families

    Science.gov (United States)

    Schoorman, Dilys; Zainuddin, Hanizah

    2008-01-01

    Educators in the field of "family literacy" have identified multiple approaches to family literacy programs (FLPs), and have underscored the need to identify and make explicit the philosophical orientations of their own programs. This was the task undertaken in this article, which focused on a FLP in south Florida that served the needs of…

  6. Genome-wide analysis of the NADK gene family in plants.

    Directory of Open Access Journals (Sweden)

    Wen-Yan Li

    Full Text Available BACKGROUND: NAD(H kinase (NADK is the key enzyme that catalyzes de novo synthesis of NADP(H from NAD(H for NADP(H-based metabolic pathways. In plants, NADKs form functional subfamilies. Studies of these families in Arabidopsis thaliana indicate that they have undergone considerable evolutionary selection; however, the detailed evolutionary history and functions of the various NADKs in plants are not clearly understood. PRINCIPAL FINDINGS: We performed a comparative genomic analysis that identified 74 NADK gene homologs from 24 species representing the eight major plant lineages within the supergroup Plantae: glaucophytes, rhodophytes, chlorophytes, bryophytes, lycophytes, gymnosperms, monocots and eudicots. Phylogenetic and structural analysis classified these NADK genes into four well-conserved subfamilies with considerable variety in the domain organization and gene structure among subfamily members. In addition to the typical NAD_kinase domain, additional domains, such as adenylate kinase, dual-specificity phosphatase, and protein tyrosine phosphatase catalytic domains, were found in subfamily II. Interestingly, NADKs in subfamily III exhibited low sequence similarity (∼30% in the kinase domain within the subfamily and with the other subfamilies. These observations suggest that gene fusion and exon shuffling may have occurred after gene duplication, leading to specific domain organization seen in subfamilies II and III, respectively. Further analysis of the exon/intron structures showed that single intron loss and gain had occurred, yielding the diversified gene structures, during the process of structural evolution of NADK family genes. Finally, both available global microarray data analysis and qRT-RCR experiments revealed that the NADK genes in Arabidopsis and Oryza sativa show different expression patterns in different developmental stages and under several different abiotic/biotic stresses and hormone treatments, underscoring the

  7. The mother who cannot provide liberation: family atom analysis of women victims of domestic violence

    Directory of Open Access Journals (Sweden)

    Maria Silvia Guglielmin

    2014-06-01

    Full Text Available The present contribution presents the discussion about the analysis carried out on family atoms that were completed in the first psychodrama group meetings carried out in all the Empower Daphne III program partner countries. The issue of the relationship with the mother is central to the aim of the project, in that we hypothesise that the mothers of victims are incapable of educating their daughters about personal autonomy in relation to men, due to the traditional culture in which they grew up in. The article presents information about the use and processing of the survey tool “Family atom ” created by Jacob Moreno and the analysis of the data that emerged in parallel to the reports sent periodically by the psychodramatists to the monitoring and analysis team. From the results three types of maternal relationships emerge (positive, negative and incongruent that enable us to confirm the initial hypothesis of this action research.

  8. A new participative, family-oriented health counseling approach for children and their families: a comparative qualitative analysis.

    Science.gov (United States)

    Siltanen, Marjo; Aromaa, Minna; Hakulinen-Viitanen, Tuovi; Junnila, Riina; Laaksonen, Camilla; Parisod, Heidi; Salanterä, Sanna

    2014-01-01

    Health counseling is an essential part of health promotion and there is a need for new, family-oriented health counseling methods. The objective of this study was to describe the differences in physical activity conversations from the perspective of family-oriented care between child health visits using the Weighty Matter Toolkit and those using normal protocol. In total, 35 health visits were analyzed. The results indicate that the Weighty Matter Toolkit offers the child, and other family members, a better opportunity to participate to conversations, and the focus of the conversation is more diverse and based on the family's perception regarding physical activity compared to the normal protocol. Thus, the Weighty Matter Toolkit is a promising method for family-oriented health counseling.

  9. Deathbed visions from the Republic of Moldova: a content analysis of family observations.

    Science.gov (United States)

    Kellehear, Allan; Pogonet, Vadim; Mindruta-Stratan, Rodica; Gorelco, Victor

    This is an interview-based study of 102 families and their observations of the last weeks and days of a dying family member. Forty-one families reported hearing about "visions," "hallucinations," or "dreams" from their dying loved one before their death. Of these 41 mixed cases, 37 cases demonstrated classic features of deathbed visions-reports of seeing dead relatives or friends communicating to the dying person. This article reports a content analysis of these 37 cases in order to identify the major psychosocial themes that seem to be conveyed by these kinds of experiences. Six major themes are identified. These themes are: support, comfort, companionship, reunion, prognosis, and choice and control. Implications of these themes are discussed in relation to their role in providing significant support for the psychological morale and social well being of dying people.

  10. Late onset autosomal dominant cerebellar ataxia a family description and linkage analysis with the hla system

    Directory of Open Access Journals (Sweden)

    Walter O. Arruda

    1991-09-01

    Full Text Available A family suffering an autosomal dominant form of late onset hereditary cerebellar ataxia is described. Eight affected family members were personally studied, and data from another four were obtained through anamnesis. The mean age of onset was 37.1±5.4 years (27-47 years. The clinical picture consisted basically of a pure ataxic cerebellar syndrome. CT-scan disclosed diffuse cerebellar atrophy with relative sparing of the brainstem (and no involvement of supratentorial structures. Neurophysiological studies (nerve conduction, VEP and BAEP were normal. Twenty-six individuals were typed for HLA histocompatibility antigens. Lod scores were calculated with the computer program LINKMAP. Close linkage of the ataxia gene with the HLA system in this family could be excluded - 0==0,02, z=(-2,17 - and the overall analysis of the lod scores suggest another chromossomal location than chromosome 6.

  11. Systematic analysis of public domain compound potency data identifies selective molecular scaffolds across druggable target families.

    Science.gov (United States)

    Hu, Ye; Wassermann, Anne Mai; Lounkine, Eugen; Bajorath, Jürgen

    2010-01-28

    Molecular scaffolds that yield target family-selective compounds are of high interest in pharmaceutical research. There continues to be considerable debate in the field as to whether chemotypes with a priori selectivity for given target families and/or targets exist and how they might be identified. What do currently available data tell us? We present a systematic and comprehensive selectivity-centric analysis of public domain target-ligand interactions. More than 200 molecular scaffolds are identified in currently available active compounds that are selective for established target families. A subset of these scaffolds is found to produce compounds with high selectivity for individual targets among closely related ones. These scaffolds are currently underrepresented in approved drugs.

  12. YeastWeb: a workset-centric web resource for gene family analysis in yeast

    Directory of Open Access Journals (Sweden)

    Bao Haihua

    2010-07-01

    Full Text Available Abstract Background Currently, a number of yeast genomes with different physiological features have been sequenced and annotated, which provides invaluable information to investigate yeast genetics, evolutionary mechanism, structure and function of gene families. Description YeastWeb is a novel database created to provide access to gene families derived from the available yeast genomes by assigning the genes into putative families. It has many useful features that complement existing databases, such as SGD, CYGD and Génolevures: 1 Detailed computational annotation was conducted with each entry with InterProScan, EMBOSS and functional/pathway databases, such as GO, COG and KEGG; 2 A well established user-friendly environment was created to allow users to retrieve the annotated genes and gene families using functional classification browser, keyword search or similarity-based search; 3 Workset offers users many powerful functions to manage the retrieved data efficiently, associate the individual items easily and save the intermediate results conveniently; 4 A series of comparative genomics and molecular evolution analysis tools are neatly implemented to allow users to view multiple sequence alignments and phylogenetic tree of gene families. At present, YeastWeb holds the gene families clustered from various MCL inflation values from a total of 13 available yeast genomes. Conclusions Given the great interest in yeast research, YeastWeb has the potential to become a useful resource for the scientific community of yeast biologists and related researchers investigating the evolutionary relationship of yeast gene families. YeastWeb is available at http://centre.bioinformatics.zj.cn/Yeast/.

  13. Sequence analysis of candidate genes in two Roma families with severe tooth agenesis

    Directory of Open Access Journals (Sweden)

    Gabriková Dana

    2016-01-01

    Full Text Available Selective tooth agenesis is the most common congenital disorder affecting the formation of dentition in humans. Both its forms (hypodontia and more severe oligodontia can be found either in isolated form and they can be associated with systemic condition (syndromic tooth agenesis. In addition to previously known genes (PAX9, MSX1 and AXIN2 mutations in EDA, EDARADD and WNT10 gene were recently found to be involved in isolated forms of tooth agenesis. The objective of this study was to characterize the phenotype of affected members in two large families of Roma origin segregating severe isolated tooth agenesis with very variable phenotype and to perform mutation analysis of seven genes with aim to find causal mutation. 26 family members were clinically examined and coding regions of seven genes (MSX1, PAX9, AXIN2, EDA, EDAR, EDARADD and WNT10A were sequenced. With exclusion of third molars, average number of missing teeth was 8.2 ± 4.9 in family 1 and 7.1 ± 2.3 in family 2. The most frequently missing teeth were maxillary lateral incisors and first premolars and mandibular central incisors. Sequencing revealed four potentially damaging variants (g.Ala40Gly in MSX1, g.Ala240Pro in PAX9, g.Pro50Ser in AXIN2 and g.Met9Ile in EDARADD; however, none of them was present in all affected family members. Variable phenotype in both families examined in this study is in favour of heterogeneous genetic cause of tooth agenesis in these families: possible interaction of several defected genes, sequence variants in regulatory regions and additional environmental factors is assumed.

  14. Family Presence during Resuscitation: A Qualitative Analysis from a National Multicenter Randomized Clinical Trial

    Science.gov (United States)

    De Stefano, Carla; Normand, Domitille; Jabre, Patricia; Azoulay, Elie; Kentish-Barnes, Nancy; Lapostolle, Frederic; Baubet, Thierry; Reuter, Paul-Georges; Javaud, Nicolas; Borron, Stephen W.; Vicaut, Eric; Adnet, Frederic

    2016-01-01

    Background The themes of qualitative assessments that characterize the experience of family members offered the choice of observing cardiopulmonary resuscitation (CPR) of a loved one have not been formally identified. Methods and Findings In the context of a multicenter randomized clinical trial offering family members the choice of observing CPR of a patient with sudden cardiac arrest, a qualitative analysis, with a sequential explanatory design, was conducted. The aim of the study was to understand family members’ experience during CPR. All participants were interviewed by phone at home three months after cardiac arrest. Saturation was reached after analysis of 30 interviews of a randomly selected sample of 75 family members included in the trial. Four themes were identified: 1- choosing to be actively involved in the resuscitation; 2- communication between the relative and the emergency care team; 3- perception of the reality of the death, promoting acceptance of the loss; 4- experience and reactions of the relatives who did or did not witness the CPR, describing their feelings. Twelve sub-themes further defining these four themes were identified. Transferability of our findings should take into account the country-specific medical system. Conclusions Family presence can help to ameliorate the pain of the death, through the feeling of having helped to support the patient during the passage from life to death and of having participated in this important moment. Our results showed the central role of communication between the family and the emergency care team in facilitating the acceptance of the reality of death. PMID:27253993

  15. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.

    Science.gov (United States)

    Sun, Hao; Satake, Wataru; Zhang, Changjun; Nagai, Yoshitaka; Tian, Youyong; Fu, Shouzhi; Yu, Jiankun; Qian, Yaping; Qian, Yuan; Chu, Jiayou; Toda, Tatsushi

    2011-04-01

    Parkinson's disease is a degenerative central nervous system disorder that often impairs motor skills, speech and other functions. We discovered a large Chinese family showing primarily parkinsonism symptoms with autosomal dominant inheritance. Six affected individuals in the family showed typical parkinsonism symptoms, including pill-rolling tremor. Two other affected individuals showed cerebellar ataxia symptoms. A whole-genome scan using the 50K single nucleotide polymorphism array with three different linkage methods detected two positive regions on chromosome 12q24.1 and 5q13.3. The ATXN2 gene, responsible for spinocerebellar ataxia type 2 (SCA2) was located precisely in the center of the positive region on chromosome 12. Further analysis of SCA2 revealed heterozygous pathological CAG expansions in the family. The affected individuals' symptoms were typical of parkinsonism, but complex. Inverse correlation between CAG repeat size and age of onset is not obvious in this pedigree. This parkinsonism-predominant SCA2 family shared the same disease gene locus with other 'standard' SCA2 families, but it is possible that variations in one or more modifier genes might account for the parkinsonism-predominant SCA2 predisposition observed in this pedigree.

  16. Analysis of Psychosemantic System of Family Goal-Directedness in Men

    Directory of Open Access Journals (Sweden)

    Nozikova N.V.,

    2016-07-01

    Full Text Available The paper presents outcomes of an empirical study on the psychosemantic system of goal-directedness in men. The hypothesis of our study was that family semantic criterion would help reveal psychosemantic integrity and explore its structural and functional organization. A modified version of I.L. Solomin’s technique of semantic differential allowed us to obtain dendrograms of concepts in men who are married and have children and to carry out comparative analysis. The family semantic criterion help to reveal the following: 1 the psychosemantic integrity and its meaning-making concepts that dominate according to the value factor: “My future wife and holidays” in young adult- hood and “Birth of a child” in middle adulthood; 2 the structural organization of integrity revealing representations about parents’ and modern generations of family; 3 the functional organization of the system, procedural quality of which is determined by the dynamics of meaning-making values and psychosemantic content of functional categories. The paper concludes that exploring the psy- chosemantic system of family goal-directedness contributes to expand theoretical and practical approaches in family psychology.

  17. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

    NARCIS (Netherlands)

    Kemperman, M.H.; Leenheer, E. de; Huygen, P.L.M.; Wijk, E. van; Duijnhoven, G.C.F. van; Cremers, F.P.M.; Kremer, J.M.J.; Cremers, C.W.R.J.

    2004-01-01

    OBJECTIVES: To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hearing loss. DESIGN: Genetic analysis was performed using microsatellite markers. Audiometric data were collected and analy

  18. Using Technology to Expand and Enhance Applied Behavioral Analysis Programs for Children with Autism in Military Families

    Science.gov (United States)

    2013-07-01

    Applied Behavioral Analysis Programs for Children with Autism in Military Families PRINCIPAL INVESTIGATOR: Wayne Fisher, Ph.D...2013 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Using Technology to Expand and Enhance Applied Behavioral Analysis Programs for Children with

  19. Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

    Institute of Scientific and Technical Information of China (English)

    HAN Bing; CHENG Jing; YANG Shu-zhi; CAO Ju-yang; SHEN Wei-dong; JI Fei; KANG Dong-yang; ZHANG Xin; DAI Pu; YUAN Hui-jun

    2009-01-01

    Background X-linked hearing impairment is clinically and genetically a heterogeneous disease.Although many disorders manifest with hearing loss,a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment.In the present study,we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss,with emphasis on audiological findings and genomic mapping.Methods The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members.Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing.Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR),followed by analyzing using MLINK computer program.Results Five affected males demonstrated bilateral,symmetrical sensorineural and profound hearing loss.The hearing impairment started prelingual.The female carriers did not have any complain of hearing loss,however,two of them were tested with milder loss with high frequency.No causative mutations in POU3F4 gene were detected by DNA sequencing.Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score=2.04 at θ=0).Conclusions The affected males in Family JX01 have profound prelingual sensorineural hearing impairment,In addition,two female carriers showed mild to moderate hearing losses.However,none of females complained of any hearing loss.Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.

  20. Genomewide identification, classification and analysis of NAC type gene family in maize

    Indian Academy of Sciences (India)

    Xiaojian Peng; Yang Zhao; Xiaoming Li; Min Wu; Wenbo Chai; Lei Sheng; Yu Wang; Qing Dong; Haiyang Jiang; Beijiu Cheng

    2015-09-01

    NAC transcription factors comprise a large plant-specific gene family. Increasing evidence suggests that members of this family have diverse functions in plant growth and development. In this study, we performed a genomewide survey of NAC type genes in maize (Zea mays L.). A complete set of 148 nonredundant NAC genes (ZmNAC1–ZmNAC148) were identified in the maize genome using Blast search tools, and divided into 12 groups (a–l) based on phylogeny. Chromosomal location of these genes revealed that they are distributed unevenly across all 10 chromosomes. Segmental and tandem duplication contributed largely to the expansion of the maize NAC gene family. The a/s ratio suggested that the duplicated genes of maize NAC family mainly experienced purifying selection, with limited functional divergence after duplication events. Microarray analysis indicated most of the maize NAC genes were expressed across different developmental stages. Moreover, 19 maize NAC genes grouped with published stress-responsive genes from other plants were found to contain putative stress-responsive cis-elements in their promoter regions. All these stress-responsive genes belonged to the group d (stress-related). Further, these genes showed differential expression patterns over time in response to drought treatments by quantitative real-time PCR analysis. Our results reveal a comprehensive overview of the maize NAC, and form the foundation for future functional research to uncover their roles in maize growth and development.

  1. Nurses' perspectives on breaking bad news to patients and their families: a qualitative content analysis.

    Science.gov (United States)

    Abbaszadeh, Abbas; Ehsani, Seyyedeh Roghayeh; Begjani, Jamal; Kaji, Mohammad Akbari; Dopolani, Fatemeh Nemati; Nejati, Amir; Mohammadnejad, Esmaeil

    2014-01-01

    Breaking bad news is quite often not done in an effective manner in clinical settings due to the medical staff lacking the skills necessary for speaking to patients and their families. Bad news is faced with similar reactions on the part of the news receiver in all cultures and nations. The purpose of this study was to explore the perspectives of Iranian nurses on breaking bad news to patients and their families. In this research, a qualitative approach was adopted. In-depth and semi-structured interviews were conducted with 19 nurses who had at least one year work experience in the ward, and content analysis was performed to analyze the data. Five major categories emerged from data analysis, including effective communication with patients and their families, preparing the ground for delivering bad news, minimizing the negativity associated with the disease, passing the duty to physicians, and helping patients and their families make logical treatment decisions. The results of this study show that according to the participants, it is the physicians' duty to give bad news, but nurses play an important role in delivering bad news to patients and their companions and should therefore be trained in clinical and communicative skills to be able to give bad news in an appropriate and effective manner.

  2. Autosomal dominant familial spastic paraplegia; Linkage analysis and evidence for linkage to chromosome 2p

    Energy Technology Data Exchange (ETDEWEB)

    Figlewicz, D.A. [Univ. of Rochester, NY (United States); Dube, M.P.; Rouleau, G.A. [McGill Univ., Montreal (Canada)] [and others

    1994-09-01

    Familial spastic paraplegia (FSP) is a degenerative disorder of the motor system characterized by progressive weakness and spasticity of the lower limbs. Little is known about the pathophysiology of this disorder. FSP can be inherited as an autosomal dominant (AD), autosomal recessive, or X-linked trait. We have undertaken linkage analysis for a group of 36 AD FSP families from which we have collected blood samples from 427 individuals, including 148 affected individuals. Typing of polymorphic markers has allowed us to exclude more than 50% of the genome. Recently, linkage for AD FSP to a locus on chromosome 14q was reported. Our AD FSP kindreds were tested for linkage to markers spanning the 20 cM region between D14S69 and D14S66; however, we were not able to establish linkage for any of our families to chromosome 14. Lod scores suggestive of linkage for some AD FSP kindreds have been obtained for markers on chromosome 2p. We have tested seven polymorphic markers spanning the region between D2S405 and D2S177. Our highest aggregate lod score, including all families tested, was obtained at the locus D2S352: 2.4 at 20 cM. Results from HOMOG analysis for linkage heterogeneity will be reported.

  3. Mutation analysis of PAX6 gene in a large Chinese family with aniridia

    Institute of Scientific and Technical Information of China (English)

    SONG Shu-juan; LIU Ying-zhi; CONG Ri-chang; JIN Ying; HOU Zhi-qiang; MA Zhi-zhong; REN Guo-cheng; LI Ling-song

    2005-01-01

    Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

  4. Molecular evolutionary analysis of the high-affinity K+ transporter gene family in angiosperms.

    Science.gov (United States)

    Yang, P; Hua, C; Zhou, F; Zhang, B-J; Cai, X-N; Chen, Q-Z; Wang, R-L

    2016-07-15

    The high-affinity K(+) transporter (HKT) family comprises a group of multifunctional cation transporters widely distributed in organisms ranging from Bacteria to Eukarya. In angiosperms, the HKT family consists primarily of nine types, whose evolutionary relationships are not fully understood. The available sequences from 31 plant species were used to perform a comprehensive evolutionary analysis, including an examination of selection pressure and estimating phylogenetic tree and gene duplication events. Our results show that a gene duplication in the HKT1;5/HKT1;4 cluster might have led to the divergence of the HKT1;5 and HKT1;4 subfamilies. Additionally, maximum likelihood analysis revealed that the HKT family has undergone a strong purifying selection. An analysis of the amino acids provided strong statistical evidence for a functional divergence between subfamilies 1 and 2. Our study was the first to provide evidence of this functional divergence between these two subfamilies. Analysis of co-evolution in HKT identified 25 co-evolved groups. These findings expanded our understanding of the evolutionary mechanisms driving functional diversification of HKT proteins.

  5. Blog Posting After Lung Cancer Notification: Content Analysis of Blogs Written by Patients or Their Families.

    Science.gov (United States)

    Sato, Akira; Aramaki, Eiji; Shimamoto, Yumiko; Tanaka, Shiro; Kawakami, Koji

    2015-05-18

    The advent and spread of the Internet has changed the way societies communicate. A portion of information on the Internet may constitute an important source of information concerning the experiences and thoughts of patients and their families. Patients and their families use blogs to obtain updated information, search for alternative treatments, facilitate communication with other patients, and receive emotional support. However, much of this information has yet to be actively utilized by health care professionals. We analyzed health-related information in blogs from Japan, focusing on the feelings and satisfaction levels of lung cancer patients or their family members after being notified of their disease. We collected 100 blogs written in Japanese by patients (or their families) who had been diagnosed with lung cancer by a physician. These 100 blogs posts were searchable between June 1 and June 30, 2013. We focused on blog posts that addressed the lung cancer notification event. We analyzed the data using two different approaches (Analysis A and Analysis B). Analysis A was blog content analysis in which we analyzed the content addressing the disease notification event in each blog. Analysis B was patient's dissatisfaction and anxiety analysis. Detailed blog content regarding patient's dissatisfaction and anxiety at the individual sentence level was coded and analyzed. The 100 blog posts were written by 48 men, 46 women, and 6 persons whose sex was undisclosed. The average age of the blog authors was 52.4 years. With regard to cancer staging, there were 5 patients at Stage I, 3 patients at Stage II, 14 patients at Stage III, 21 patients at Stage IV, and 57 patients without a disclosed cancer stage. The results of Analysis A showed that the proportion of patients who were dissatisfied with the level of health care exceeded that of satisfied patients (22% vs 8%). From the 2499 sentences in the 100 blog posts analyzed, we identified expressions of dissatisfaction and

  6. Contribution of Rural Women to Family Income Through Participation in Microcredit: An Empirical Analysis

    Directory of Open Access Journals (Sweden)

    Ferdoushi Ahmed

    2011-01-01

    Full Text Available Problem statement: Rural women in Bangladesh have a lower socio-economic status and very limited access to income generating activities due to a number of social, cultural and religious barriers. Consequently, they have less opportunity to contribute to their family income. Rural women are economically dependent and vulnerable and socially discriminated. Microcredit programme provides loans to the rural poor women in order to undertake small financial and business activities that allow them to generate income. This income earning opportunity helps the rural women to contribute to their family income and achieve a level of independence. Approach: In the present study, an attempt has been made to assess the impact of microcredit programme on rural womens contribution in improving the household income. The study is based on empirical data collected through interview from the two groups of rural women e.g. with credit and without credit rural women. The with credit respondents represent the rural women who have taken loan from the Grammeen Banks microcredit programme. The results show that the proportion of the with credit rural women who contributed to family income is much higher (19% than that of without credit rural women (10%. A multiple regression analysis was conducted to identify the factors influencing the respondents contribution to the total monthly family income. Results: The multiple regression analysis shows that there were strong positive effects of age of respondent, level of education, family size, earning member, occupation of respondents and also monthly income of respondents while status of marriage has a strong negative effect. It was found that majority of the with credit respondents contribute much higher to the family incomes than the without credit respondents. It was also found that with credit rural women have improved their socio-economic status and income generating activities by participating

  7. Identification of the remains of the Romanov family by DNA analysis.

    Science.gov (United States)

    Gill, P; Ivanov, P L; Kimpton, C; Piercy, R; Benson, N; Tully, G; Evett, I; Hagelberg, E; Sullivan, K

    1994-02-01

    Nine skeletons found in a shallow grave in Ekaterinburg, Russia, in July 1991, were tentatively identified by Russian forensic authorities as the remains of the last Tsar, Tsarina, three of their five children, the Royal Physician and three servants. We have performed DNA based sex testing and short tandem repeat (STR) analysis and confirm that a family group was present in the grave. Analysis of mitochondrial (mt) DNA reveals an exact sequence match between the putative Tsarina and the three children with a living maternal relative. Amplified mtDNA extracted from the remains of the putative Tsar has been cloned to demonstrate heteroplasmy at a single base within the mtDNA control region. One of these sequences matches two living maternal relatives of the Tsar. We conclude that the DNA evidence supports the hypothesis that the remains are those of the Romanov family.

  8. Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers

    Energy Technology Data Exchange (ETDEWEB)

    Rosen, D.R.; Sapp, P.; O`Regan, J.; McKenna-Yasek, D.; Schlumpf, K.S.; Haines, J.L.; Gusella, J.F.; Horvitz, H.R.; Brown, R.H. Jr. [Massachusetts Institute of Technology, Cambridge, MA (United States)

    1994-05-15

    Amyotrophic lateral sclerosis (ALS; Lou Gehrig`s Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord. We previously reported linkage of a gene for familial ALS (FALS) to human chromosome 21 using 4 restriction fragment length polymorphism DNA markers and identified disease-associated mutations in the superoxide dismutase (SOD)-1 gene in some ALS families. We report here the genetic linkage data that led us to examine the SOD-1 gene for mutations. We also report a new microsatellite DNA marker for D21S63, derived from the cosmid PW517. Ten microsatellite DNA markers, including the new marker D21S63, were used to reinvestigate linkage of FALS to chromosome 21. Genetic linkage analysis performed with 13 ALS familes for these 10 DNA markers confirmed the presence of a FALS gene on chromosome 21. The highest total 2-point LOD score for all families was 4.33, obtained at a distance of 10 cM from the marker D21S223. For 5 ALS families linked to chromosome 21, a peak 2-point LOD score of 5.94 was obtained at the DNA marker D21S223. A multipoint score of 6.50 was obtained with the markers D21S213, D21S223, D21S167, and FALS for 5 chromosome 21-linked ALS families. The haplotypes of these families for the 10 DNA markers reveal recombination events that further refined the location of the FALS gene to a segment of approximately 5 megabases (Mb) between D21S213 and D21S219. The only characterized gene within this segment was SOD-1, the structural gene for Cu, Zn SOD. 30 refs., 4 figs., 4 tabs.

  9. Parent and child perspectives on family out-of-home eating: a qualitative analysis.

    Science.gov (United States)

    McGuffin, Lynn E; Price, Ruth K; McCaffrey, Tracy A; Hall, Glenn; Lobo, Alan; Wallace, Julie M W; Livingstone, M Barbara E

    2015-01-01

    To (i) explore the factors influencing family out-of-home (OH) eating events and (ii) identify possible opportunities for food businesses to support families in making healthier OH choices. Focus group discussions were conducted with parents (six to eight participants per group) and friendship pair discussions (informal interviews with two children who are friends) were conducted with children (5-12 years) throughout the island of Ireland. Both discussions were audio-recorded and analysed using a thematic content analysis. Eight focus groups and sixteen friendship pairs were conducted in Northern Ireland and sixteen focus groups and thirty-two friendship pairs were conducted in the Republic of Ireland. Purposive sampling was used to recruit a sample of non-related parents and children that represented equal numbers of gender, age, socio-economic status and demographic backgrounds. The main, overarching theme was that families perceived OH eating to be a treat, while health was not currently a key priority for many parents and children. Children were reported to have most responsibility for their own food choice decisions in this environment, with taste and food neophobia having the greatest influences. Parents believed that if food businesses could meet parent and child priorities in addition to health influences, e.g. change cooking methods, and increase flexibility, then families would be more likely to patronise these establishments. The entire family OH eating experience needs to be considered when developing public health interventions and this research has highlighted key opportunities that caterers could employ to support healthier family OH food choices.

  10. Src Family Kinases and Receptors: Analysis of Three Activation Mechanisms by Dynamic Systems Modeling

    OpenAIRE

    Fuß, Hendrik; Dubitzky, Werner; Downes, C. Stephen; Kurth, Mary Jo

    2007-01-01

    Src family kinases (SFKs) interact with a number of cellular receptors. They participate in diverse signaling pathways and cellular functions. Most of the receptors involved in SFK signaling are characterized by similar modes of regulation. This computational study discusses a general kinetic model of SFK-receptor interaction. The analysis of the model reveals three major ways of SFK activation: release of inhibition by C-terminal Src kinase, weakening of the inhibitory intramolecular phospho...

  11. Global identification and expression analysis of stress-responsive genes of the Argonaute family in apple.

    Science.gov (United States)

    Xu, Ruirui; Liu, Caiyun; Li, Ning; Zhang, Shizhong

    2016-12-01

    Argonaute (AGO) proteins, which are found in yeast, animals, and plants, are the core molecules of the RNA-induced silencing complex. These proteins play important roles in plant growth, development, and responses to biotic stresses. The complete analysis and classification of the AGO gene family have been recently reported in different plants. Nevertheless, systematic analysis and expression profiling of these genes have not been performed in apple (Malus domestica). Approximately 15 AGO genes were identified in the apple genome. The phylogenetic tree, chromosome location, conserved protein motifs, gene structure, and expression of the AGO gene family in apple were analyzed for gene prediction. All AGO genes were phylogenetically clustered into four groups (i.e., AGO1, AGO4, MEL1/AGO5, and ZIPPY/AGO7) with the AGO genes of Arabidopsis. These groups of the AGO gene family were statistically analyzed and compared among 31 plant species. The predicted apple AGO genes are distributed across nine chromosomes at different densities and include three segment duplications. Expression studies indicated that 15 AGO genes exhibit different expression patterns in at least one of the tissues tested. Additionally, analysis of gene expression levels indicated that the genes are mostly involved in responses to NaCl, PEG, heat, and low-temperature stresses. Hence, several candidate AGO genes are involved in different aspects of physiological and developmental processes and may play an important role in abiotic stress responses in apple. To the best of our knowledge, this study is the first to report a comprehensive analysis of the apple AGO gene family. Our results provide useful information to understand the classification and putative functions of these proteins, especially for gene members that may play important roles in abiotic stress responses in M. hupehensis.

  12. Genomewide analysis of the lateral organ boundaries domain gene family in Vitis vinifera.

    Science.gov (United States)

    Cao, Hui; Liu, Cai-Yun; Liu, Chun-Xiang; Zhao, Yue-Ling; Xu, Rui-Rui

    2016-09-01

    In plants, the transcription factor families have been implicated in many important biological processes. These processes include morphogenesis, signal transduction and environmental stress responses. Proteins containing the lateral organ boundaries domain (LBD), which encodes a zinc finger-like domain are only found in plants. This finding indicates that this unique gene family regulates only plant-specific biological processes. LBD genes play crucial roles in the growth and development of plants such as Arabidopsis, Oryza sativa, Zea mays, poplar, apple and tomato. However, relatively little is known about the LBD genes in grape (Vitis vinifera). In this study, we identified 40 LBD genes in the grape genome. A complete overview of the chromosomal locations, phylogenetic relationships, structures and expression profiles of this gene family during development in grape is presented here. Phylogenetic analysis showed that the LBD genes could be divided into classes I and II, together with LBDs from Arabidopsis. We mapped the 40 LBD genes on the grape chromosomes (chr1-chr19) and found that 37 of the predicted grape LBD genes were distributed in different densities across 12 chromosomes. Grape LBDs were found to share a similar intron/exon structure and gene length within the same class. The expression profiles of grape LBD genes at different developmental stages were analysed using microarray data. Results showed that 21 grape LBD genes may be involved in grape developmental processes, including preveraison, veraison and ripening. Finally, we analysed the expression patterns of six LBD genes through quantitative real-time polymerase chain reation analysis. The six LBD genes showed differential expression patterns among the three representative grape tissues, and five of these genes were found to be involved in responses to mannitol, sodium chloride, heat stress and low temperature treatments. To our knowledge, this is the first study to analyse the LBD gene family in

  13. Family structure and childhood obesity: an analysis through 8th grade.

    Science.gov (United States)

    Chen, Alex Y; Escarce, José J

    2014-09-01

    Research on the effect of family structure on childhood obesity is scarce. This study examines the effect of number of parents and number of siblings on US children's body mass index (BMI) and risk of obesity. We conducted a secondary data analysis of the Early Childhood Longitudinal Study-Kindergarten Cohort (ECLS-K), which consists of a nationally representative cohort of children who entered kindergarten in 1998-1999, to examine the effect of family structure on children's body mass index and risk of obesity from kindergarten through 8th grade. Study outcomes were BMI in kindergarten and 8th grade, obesity status in kindergarten and 8th grade, and change in BMI from kindergarten through 8th grade. Multivariate regressions were used to assess the association between family structure and study outcomes while adjusting for other covariates. In 8th grade, children with no siblings had higher BMI (23.7 vs. 22.6; P ≤ 0.01) and higher probability of being obese (25.8 vs. 19.7 %; P ≤ 0.05) than their counterparts with two or more siblings. They also had a larger increase in BMI from kindergarten through 8th grade than children living with two or more siblings (7.3 vs. 6.3; P = 0.02). Our analysis suggests that the association between family structure and obesity persists and even intensifies through 8th grade. These findings have important implications for targeting obesity support and counseling for families.

  14. Genomewide analysis of the lateral organ boundaries domain gene family in Vitis vinifera

    Indian Academy of Sciences (India)

    HUI CAO; CAI-YUN LIU; HUN-XIANG LIU; YUE-LING ZHAO; RUI-RUI XU

    2016-09-01

    In plants, the transcription factor families have been implicated in many important biological processes. These processes include morphogenesis, signal transduction and environmental stress responses. Proteins containing the lateral organ bound-aries domain (LBD), which encodes a zinc finger-like domain are only found in plants. This finding indicates that this unique gene family regulates only plant-specific biological processes. LBD genes play crucial roles in the growth and development of plants such as Arabidopsis, Oryza sativa, Zea mays , poplar, apple and tomato. However, relatively little is known about the LBD genes in grape ( Vitis vinifera). In this study, we identified 40 LBD genes in the grape genome. A complete overview of the chromosomal locations, phylogenetic relationships, structures and expression profiles of this gene family during development in grape is presented here. Phylogenetic analysis showed that the LBD genes could be divided into classes I and II, together with LBDs from Arabidopsis. We mapped the 40 LBD genes on the grape chromosomes (chr1–chr19) and found that 37 of the predicted grape LBD genes were distributed in different densities across 12 chromosomes. Grape LBDs were found to share a similar intron/exon structure and gene length within the same class. The expression profiles of grape LBD genes at different developmental stages were analysed using microarray data. Results showed that 21 grape LBD genes may be involved in grape developmental processes, including preveraison, veraison and ripening. Finally, we analysed the expres-sion patterns of six LBD genes through quantitative real-time polymerase chain reation analysis. The six LBD genes showed differential expression patterns among the three representative grape tissues, and five of these genes were found to be involved in responses to mannitol, sodium chloride, heat stress and low temperature treatments. To our knowledge, this is the first study to analyse the LBD gene

  15. Molecular analysis of 53 fragile X families with the probe StB12.3

    Energy Technology Data Exchange (ETDEWEB)

    Puissant, H.; Malinge, M.C.; Larget-Piet, A.; Larget-Piet, L. [Unite de Genetique CHU d`Angers (France); Martin, D. [Genetique Medicale CHR Le Mans (France); Chauveau, P. [Genetique Medicale CHR Le Havre (France); Odent, S.; Lemarec, B. [Genetique Medicale CHU Rennes (France); Plessis, G. [Genetique Medicale CHU de Caen (France); Parent, Ph. [Genetique Medicale CHU de Brest (France)

    1994-12-01

    Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these cases. 17 refs.

  16. Situation analysis: assessing family planning and reproductive health services. Quality of care.

    Science.gov (United States)

    1997-01-01

    This issue of Population Briefs contains articles on researches conducted by the Population Council concerning the delivery of quality of care, contraceptive development, safe abortion, family planning, demography, and medical anthropology. The cover story focuses on a systematic data collection tool called Situation Analysis that helps managers in program evaluation. This tool has a handbook entitled "The Situation Analysis Approach to Assessing Family Planning and Reproductive Health Services" that contains all the information needed to conduct a Situation Analysis study. The second article reports about a new contraceptive method, the two-rod levonorgestrel, which was developed at the Population Council and was recently approved by the US Food and Drug Administration. The third article reports on a medical abortion procedure that was proven to be safe, effective, and acceptable to women in developing countries. Moreover, the fourth article presents initial findings of the Community Health and Family Planning Project conducted in Northern Ghana. The fifth article discusses the paper written by the Population Council demographer, Mark Montgomery entitled "Learning and lags in mortality perceptions". Finally, the sixth article deals with another paper that reports on women's health perceptions and reproductive health in the Middle East.

  17. Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.

    Science.gov (United States)

    Lin, Ying; Gao, Hongbin; Ai, Siming; Eswarakumar, Jacob V P; Li, Tao; Liu, Bingqian; Jiang, Hongye; Liu, Yuhua; Liu, Xialin; Li, Yonghao; Ni, Yao; Chen, Jiangna; Lin, Zhuoling; Liang, Xiaoling; Jin, Chenjin; Huang, Xinhua; Lu, Lin; Liu, Yizhi

    2016-09-01

    Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811‑812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of

  18. Variances in family carers' quality of life based on selected relationship and caregiving indicators: A quantitative secondary analysis.

    Science.gov (United States)

    Naef, Rahel; Hediger, Hannele; Imhof, Lorenz; Mahrer-Imhof, Romy

    2017-06-01

    To determine subgroups of family carers based on family relational and caregiving variables and to explore group differences in relation to selected carer outcomes. Family caregiving in later life holds a myriad of positive and negative outcomes for family members' well-being. However, factors that constitute family carers' experience and explain variances are less well understood. A secondary data analysis using cross-sectional data from a controlled randomised trial with community-dwelling people 80 years or older and their families. A total of 277 paired data sets of older persons and their family carers were included into the analysis. Data were collected via mailed questionnaires and a geriatric nursing assessment. A two-step cluster analysis was performed to determine subgroups. To discern group differences, appropriate tests for differences with Bonferroni correction were used. Two family carer groups were identified. The low-intensity caregiver group (57% of carers) reported high relationship quality and self-perceived ease of caregiving. In contrast, the high-intensity caregiver group (43% of carers) experienced significantly lower relationship quality, felt less prepared and appraised caregiving as more difficult, time intensive and burdensome. The latter cared for older, frailer and more dependent octogenarians and had significantly lower levels of quality of life and self-perceived health compared to the low-intensity caregiver group. A combination of family relational and caregiving variables differentiates those at risk for adverse outcomes. Family carers of frailer older people tend to experience higher strain, lower relationship quality and ability to work together as a family. Nurses should explicitly assess family carer needs, in particular when older persons are frail. Family carer support interventions should address caregiving preparedness, demand and burden, as well as concerns situated in the relationship. © 2016 John Wiley & Sons Ltd.

  19. Genome-wide identification, characterization, and expression analysis of the MLO gene family in Cucumis sativus.

    Science.gov (United States)

    Zhou, S J; Jing, Z; Shi, J L

    2013-12-11

    Mildew resistance locus o (MLO) is a plant-specific seven-transmembrane (TM) gene family. Several studies have revealed that certain members of the MLO gene family mediate powdery mildew susceptibility in three plant species, namely, Arabidopsis, barley, and tomato. The sequenced cucumber genome provides an opportunity to conduct a comprehensive overview of the MLO gene family. Fourteen genes (designated CsMLO01 through CsMLO14) have been identified within the Cucumis sativus genome by using an in silico cloning method with the MLO amino acid sequences of Arabidopsis thaliana and rice as probes. Sequence alignment revealed that numerous features of the gene family, such as TMs, a calmodulin-binding domain, peptide domains I and II, and 30 important amino acid residues for MLO function, are well conserved. Phylogenetic analysis of the MLO genes from cucumber and other plant species reveals seven different clades (I through VII). Three of these clades comprised MLO genes from A. thaliana, rice, maize, and cucumber, suggesting that these genes may have evolved after the divergence of monocots and dicots. In silico mapping showed that these CsMLOs were located on chromosomes 1, 2, 3, 4, 5, and 6 without any obvious clustering, except CsMLO01. To our knowledge, this paper is the first comprehensive report on MLO genes in C. sativus. These findings will facilitate the functional characterization of the MLOs related to powdery mildew susceptibility and assist in the development of disease resistance in cucumber.

  20. Familial Mediterranean Fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extened haplotype analysis

    Energy Technology Data Exchange (ETDEWEB)

    Aksentijevich, I.; Pras, E.; Helling, S.; Prosen, L.; Kastner, D.L.; Gruberg, L.; Pras, M. (Heller Institute for Medical Research, Tel-Hashomer (Israel))

    1993-09-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated MEF') is on 16p, with the gene order 16 cen-D16S80-MEF-D16S94-D16S283-D16S291-16pter. Here the authors report the association of FMF susceptibility with alleles at D16S94, D16S283, and D16S291 among 31 non-Ashkenazi Jewish families 14 Moroccan families. For the non-Moroccans, only the allelic association at D16S94 approached statistical significance. Haplotype analysis showed that 18/25 Moroccan FMF chromosomes, versus 0/21 noncarrier chromosomes, bore a specific haplotype for D16S94-D16S283-D16S291. Among non-Moroccans this haplotype was present in 6/26 FMF chromosomes versus 1/28 controls. Both groups of families are largely descended from Jews who fled the Spanish Inquisition. The strong haplotype association seen among the Moroccans is most likely a founder effect, given the recent origin and genetic isolation of the Moroccan Jewish community. The lowest haplotype frequency among non-Moroccan carriers may reflect differences both in history and in population genetics. 28 refs., 1 fig., 3 tabs.

  1. Phylogenetic analysis of the expansion of the MATH-BTB gene family in the grasses.

    Science.gov (United States)

    Juranić, Martina; Dresselhaus, Thomas

    2014-01-01

    MATH-BTB proteins are known to act as substrate-specific adaptors of cullin3 (CUL3)-based ubiquitin E3 ligases to target protein for ubiquitination. In a previous study we reported the presence of 31 MATH-BTB genes in the maize genome and determined the regulatory role of the MATH-BTB protein MAB1 during meiosis to mitosis transition. In contrast to maize, there are only 6 homologous genes in the model plant Arabidopsis, while this family has largely expanded in grasses. Here, we report a phylogenetic analysis of the MATH-BTB gene family in 9 land plant species including various mosses, eudicots, and grasses. We extend a previous classification of the plant MATH-BTB family and additionally arrange the expanded group into 5 grass-specific clades. Synteny studies indicate that expansion occurred to a large extent due to local gene duplications. Expression studies of 3 closely related MATH-BTB genes in maize (MAB1-3) indicate highly specific expression pattern. In summary, this work provides a solid base for further studies comparing genetic and functional information of the MATH-BTB family especially in the grasses.

  2. Phylogenetic analysis of the expansion of the MATH-BTB gene family in the grasses

    Science.gov (United States)

    Juranić, Martina; Dresselhaus, Thomas

    2014-01-01

    MATH-BTB proteins are known to act as substrate-specific adaptors of cullin3 (CUL3)-based ubiquitin E3 ligases to target protein for ubiquitination. In a previous study we reported the presence of 31 MATH-BTB genes in the maize genome and determined the regulatory role of the MATH-BTB protein MAB1 during meiosis to mitosis transition. In contrast to maize, there are only 6 homologous genes in the model plant Arabidopsis, while this family has largely expanded in grasses. Here, we report a phylogenetic analysis of the MATH-BTB gene family in 9 land plant species including various mosses, eudicots, and grasses. We extend a previous classification of the plant MATH-BTB family and additionally arrange the expanded group into 5 grass-specific clades. Synteny studies indicate that expansion occurred to a large extent due to local gene duplications. Expression studies of 3 closely related MATH-BTB genes in maize (MAB1–3) indicate highly specific expression pattern. In summary, this work provides a solid base for further studies comparing genetic and functional information of the MATH-BTB family especially in the grasses. PMID:24614623

  3. Delirium as letting go: An ethnographic analysis of hospice care and family moral experience.

    Science.gov (United States)

    Wright, David Kenneth; Brajtman, Susan; Cragg, Betty; Macdonald, Mary Ellen

    2015-12-01

    Delirium is extremely common in dying patients and appears to be a major threat to the family's moral experience of a good death in end-of-life care. To illustrate one of the ways in which hospice caregivers conceptualize end-of-life delirium and the significance of this conceptualization for the relationships that they form with patients' families in the hospice setting. Ethnography. Ethnographic fieldwork was conducted at a nine-bed, freestanding residential hospice, located in a suburban community of Eastern Canada. Data collection methods included 15 months of participant observation, 28 semi-structured audio-recorded interviews with hospice caregivers, and document analysis. Hospice caregivers draw on a culturally established framework of normal dying to help families come to terms with clinical end-of-life phenomena, including delirium. By offering explanations about delirium as a natural feature of the dying process, hospice caregivers strive to protect for families the integrity of the good death ideal. Within hospice culture, there is usefulness to deemphasizing delirium as a pathological neuropsychiatric complication, in favor of acknowledging delirious changes as signs of normal dying. This has implications for how we understand the role of nurses and other caregivers with respect to delirium assessment and care, which to date has focused largely on practices of screening and management. © The Author(s) 2015.

  4. Genomewide analysis of LATERAL ORGAN BOUNDARIES Domain gene family in Zea mays

    Indian Academy of Sciences (India)

    Yue-Min Zhang; Shi-Zhong Zhang; Cheng-Chao Zheng

    2014-04-01

    The investigation of transcription factor (TF) families is a major focus of postgenomic research. The plant-specific ASYMMETRIC LEAVES2-LIKE (ASL) / LATERAL ORGAN BOUNDARIES Domain (LBD) proteins constitute a major zincfinger-like-domain transcription factor family, and regulate diverse biological processes in plants. However, little is known about LBD genes in maize (Zea mays). In this study, a total of 44 LBD genes were identified in maize genome and were phylogenetically clustered into two groups (I and II), together with LBDs from Arabidopsis. The predicted maize LBDs were distributed across all the 10 chromosomes with different densities. In addition, the gene structures of maize LBDs were analysed. The expression profiles of the maize LBD genes under normal growth conditions were analysed by microarray data and qRT-PCR. The results indicated that LBDs might be involved in various aspects of physiological and developmental processes in maize. To our knowledge, this is the first report of a genomewide analysis of the maize LBD gene family, which would provide valuable information for understanding the classification and putative functions of the gene family.

  5. Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

    Science.gov (United States)

    Gómez-Manzo, Saúl; Marcial-Quino, Jaime; Vanoye-Carlo, America; Serrano-Posada, Hugo; Ortega-Cuellar, Daniel; González-Valdez, Abigail; Castillo-Rodríguez, Rosa Angélica; Hernández-Ochoa, Beatriz; Sierra-Palacios, Edgar; Rodríguez-Bustamante, Eduardo; Arreguin-Espinosa, Roberto

    2016-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein. PMID:27941691

  6. Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

    Directory of Open Access Journals (Sweden)

    Saúl Gómez-Manzo

    2016-12-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC. Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.

  7. Quantitative analysis of the secretion of the MCP family of chemokines by muscle cells

    DEFF Research Database (Denmark)

    Henningsen, Jeanette; Pedersen, Bente Klarlund; Kratchmarova, Irina

    2011-01-01

    by Amino acids in Cell culture (SILAC) method for quantitative analysis resulted in the identification and generation of quantitative profiles of 59 growth factors and cytokines, including 9 classical chemokines. The members of the CC chemokine family of proteins such as monocyte chemotactic proteins 1, 2......, and 3 (MCP-1/CCL2, MCP-2/CCL8, and MCP-3/CCL7) showed a distinct pattern of secretion during differentiation. Further analysis using combinatorial RNA and protein approaches demonstrated that the MCPs are regulated via both post-transcriptional and post-translational mechanisms. Analyses...

  8. Genome-wide classification and expression analysis of MYB transcription factor families in rice and Arabidopsis

    Directory of Open Access Journals (Sweden)

    Katiyar Amit

    2012-10-01

    Full Text Available Abstract Background The MYB gene family comprises one of the richest groups of transcription factors in plants. Plant MYB proteins are characterized by a highly conserved MYB DNA-binding domain. MYB proteins are classified into four major groups namely, 1R-MYB, 2R-MYB, 3R-MYB and 4R-MYB based on the number and position of MYB repeats. MYB transcription factors are involved in plant development, secondary metabolism, hormone signal transduction, disease resistance and abiotic stress tolerance. A comparative analysis of MYB family genes in rice and Arabidopsis will help reveal the evolution and function of MYB genes in plants. Results A genome-wide analysis identified at least 155 and 197 MYB genes in rice and Arabidopsis, respectively. Gene structure analysis revealed that MYB family genes possess relatively more number of introns in the middle as compared with C- and N-terminal regions of the predicted genes. Intronless MYB-genes are highly conserved both in rice and Arabidopsis. MYB genes encoding R2R3 repeat MYB proteins retained conserved gene structure with three exons and two introns, whereas genes encoding R1R2R3 repeat containing proteins consist of six exons and five introns. The splicing pattern is similar among R1R2R3 MYB genes in Arabidopsis. In contrast, variation in splicing pattern was observed among R1R2R3 MYB members of rice. Consensus motif analysis of 1kb upstream region (5′ to translation initiation codon of MYB gene ORFs led to the identification of conserved and over-represented cis-motifs in both rice and Arabidopsis. Real-time quantitative RT-PCR analysis showed that several members of MYBs are up-regulated by various abiotic stresses both in rice and Arabidopsis. Conclusion A comprehensive genome-wide analysis of chromosomal distribution, tandem repeats and phylogenetic relationship of MYB family genes in rice and Arabidopsis suggested their evolution via duplication. Genome-wide comparative analysis of MYB genes and

  9. Assessment of Supportive, Conflicted, and Controlling Dimensions of Family Functioning: A Principal Components Analysis of Family Environment Scale Subscales in a College Sample.

    Science.gov (United States)

    Kronenberger, William G.; Thompson, Robert J., Jr.; Morrow, Catherine

    1997-01-01

    A principal components analysis of the Family Environment Scale (FES) (R. Moos and B. Moos, 1994) was performed using 113 undergraduates. Research supported 3 broad components encompassing the 10 FES subscales. These results supported previous research and the generalization of the FES to college samples. (SLD)

  10.  Glucose-6-Phosphate Dehydrogenase Deficiency among Male Blood Donors inSana’a City, Yemen

    Directory of Open Access Journals (Sweden)

    Molham AL-Habori

    2012-01-01

    Full Text Available  Objectives: To determine the prevalence of Glucose-6-phosphatedehydrogenase (G-6-PD deficiency among Yemeni people fromdifferent regions of the country living in the capital city, Sana’a,giving an indication of its overall prevalence in Yemen.Methods: A cross-sectional study was conducted among Yemenimale blood donors attending the Department of Blood Bank atthe National Centre of the Public Health Laboratories in thecapital city, Sana’a, Yemen. Fluorescent spot method was used forscreening, spectrophotometeric estimation of G-6-PD activityand separation by electrophoresis was done to determine the G-6-PD phenotype.Results: Of the total 508 male blood donors recruited into thestudy, 36 were G-6-PD deficient, giving a likely G-6-PD deficiencyprevalence of 7.1�20None of these deficient donors had history ofanemia or jaundice. Thirty-five of these deficient cases (97.2�howed severe G-6-PD deficiency class II (<10�0of normalactivity, and their phenotyping presumptively revealed a G-6-PDMediterraneanvariant.Conclusion: The results showed a significant presence of G-6-PD deficiency with predominance of a severe G-6-PD deficiencytype in these blood donors in Sana’a City, which could representan important health problem through occurrence of hemolyticanemia under oxidative stress. A larger sample size is needed todetermine the overall prevalence of G-6-PD deficiency, and shouldbe extended to include DNA analysis to identify its variants in Yemen.

  11. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

    Science.gov (United States)

    Williams, Lacey S; Demir Eksi, Durkadin; Shen, Yiping; Lossie, Amy C; Chorich, Lynn P; Sullivan, Megan E; Phillips, John A; Erman, Munire; Kim, Hyung-Goo; Alper, Ozgul M; Layman, Lawrence C

    2017-07-01

    To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts. Laboratory- and community-based study. Academic medical centers. A total of 147 MRKH probands and available family members. DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 North American MRKH patients, and characterization and sample collection of 147 North American and Turkish MRKH probands and their families. DNA sequence variants and CNVs; pedigree structural analysis. We report finding CNVs in 6/31 people (∼19%) with MRKH, but no point mutations or small indels in WNT4, HNF1B, or LHX1 in 100 MRKH patients. Our MRKH families included 43 quads, 26 trios, and 30 duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147 (41%) had type 2 with additional anomalies. Although the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in people with MRKH, the prevalence of CNVs was ∼19%. Further analysis of our large familial cohort of patients will facilitate gene discovery to better understand the complex etiology of MRKH. Copyright © 2017 American Society for Reproductive Medicine. All rights reserved.

  12. Multivariate areal analysis of the impact and efficiency of the family planning programme in peninsular Malaysia.

    Science.gov (United States)

    Tan Boon Ann

    1987-06-01

    The findings of the final phase of a 3-phase multivariate areal analysis study undertaken by the Economic and Social Commission for Asia and the Pacific (ESCAP) in 5 countries of the Asian and Pacific Region, including Malaysia, to examine the impact of family planning programs on fertility and reproduction are reported. The study used Malaysia's administrative district as the unit of analysis because the administration and implementation of socioeconomic development activities, as well as the family planning program, depend to a large extent on the decisions of local organizations at the district or state level. In phase 1, existing program and nonprogram data were analyzed using the multivariate technique to separate the impact of the family planning program net of other developmental efforts. The methodology in the 2nd phase consisted of in-depth investigation of selected areas in order to discern the dynamics and determinants of efficiency. The insights gained in phase 2 regarding dynamics of performance were used in phase 3 to refine the input variables of the phase 1 model. Thereafter, the phase 1 analysis was repeated. Insignificant variables and factors were trimmed in order to present a simplified model for studying the impact of environmental, socioeconomic development, family planning programs, and related factors on fertility. The inclusion of a set of family planning program and development variables in phase 3 increased the predictive power of the impact model. THe explained variance for total fertility rate (TFR) of women under 30 years increased from 71% in phase 1 to 79%. It also raised the explained variance of the efficiency model from 34% to 70%. For women age 30 years and older, their TFR was affected directly by the ethnic composition variable (.76), secondary educational status (-.45), and modern nonagricultural occupation (.42), among others. When controlled for other socioeconomic development and environmental indicators, the

  13. Bioinformatic analysis of the neprilysin (M13 family of peptidases reveals complex evolutionary and functional relationships

    Directory of Open Access Journals (Sweden)

    Pinney John W

    2008-01-01

    Full Text Available Abstract Background The neprilysin (M13 family of endopeptidases are zinc-metalloenzymes, the majority of which are type II integral membrane proteins. The best characterised of this family is neprilysin, which has important roles in inactivating signalling peptides involved in modulating neuronal activity, blood pressure and the immune system. Other family members include the endothelin converting enzymes (ECE-1 and ECE-2, which are responsible for the final step in the synthesis of potent vasoconstrictor endothelins. The ECEs, as well as neprilysin, are considered valuable therapeutic targets for treating cardiovascular disease. Other members of the M13 family have not been functionally characterised, but are also likely to have biological roles regulating peptide signalling. The recent sequencing of animal genomes has greatly increased the number of M13 family members in protein databases, information which can be used to reveal evolutionary relationships and to gain insight into conserved biological roles. Results The phylogenetic analysis successfully resolved vertebrate M13 peptidases into seven classes, one of which appears to be specific to mammals, and insect genes into five functional classes and a series of expansions, which may include inactive peptidases. Nematode genes primarily resolved into groups containing no other taxa, bar the two nematode genes associated with Drosophila DmeNEP1 and DmeNEP4. This analysis reconstructed only one relationship between chordate and invertebrate clusters, that of the ECE sub-group and the DmeNEP3 related genes. Analysis of amino acid utilisation in the active site of M13 peptidases reveals a basis for their biochemical properties. A relatively invariant S1' subsite gives the majority of M13 peptidases their strong preference for hydrophobic residues in P1' position. The greater variation in the S2' subsite may be instrumental in determining the specificity of M13 peptidases for their substrates

  14. Supporting vulnerable families who do not attend appointments: a gap analysis of the skills health professionals need.

    Science.gov (United States)

    Wallbank, Sonya; Meeusen, Mirjam; Jones, Louise

    2013-01-01

    This paper offers a framework of knowledge, skills and competencies required for professionals working with vulnerable families at risk from not attending their appointment (DNA). It also offers a gap analysis of Higher Education Health Professional courses which identifies where professionals skills need to be further developed. The gap analysis demonstrates that courses appear to teach professionals how to identify and communicate with families; however, not specifically in relation to families who DNA. One of the key factors which appears to be missing from courses is how to identify when vulnerability is increasing with a family. This may mean that families who initially present as stable may fail to be identified when their circumstances are changing and increasing their vulnerability. The gap analysis also shows that professionals are not routinely given the tools needed to creatively engage with families who do not attend. It appears important that professionals are taught why families may not attend appointments, so increasing their desire to engage with families and decrease stigmatising attitudes to families who find compliance with healthcare appointments difficult.

  15. Genome-Wide Analysis of the Aquaporin Gene Family in Chickpea (Cicer arietinum L.).

    Science.gov (United States)

    Deokar, Amit A; Tar'an, Bunyamin

    2016-01-01

    Aquaporins (AQPs) are essential membrane proteins that play critical role in the transport of water and many other solutes across cell membranes. In this study, a comprehensive genome-wide analysis identified 40 AQP genes in chickpea (Cicer arietinum L.). A complete overview of the chickpea AQP (CaAQP) gene family is presented, including their chromosomal locations, gene structure, phylogeny, gene duplication, conserved functional motifs, gene expression, and conserved promoter motifs. To understand AQP's evolution, a comparative analysis of chickpea AQPs with AQP orthologs from soybean, Medicago, common bean, and Arabidopsis was performed. The chickpea AQP genes were found on all of the chickpea chromosomes, except chromosome 7, with a maximum of six genes on chromosome 6, and a minimum of one gene on chromosome 5. Gene duplication analysis indicated that the expansion of chickpea AQP gene family might have been due to segmental and tandem duplications. CaAQPs were grouped into four subfamilies including 15 NOD26-like intrinsic proteins (NIPs), 13 tonoplast intrinsic proteins (TIPs), eight plasma membrane intrinsic proteins (PIPs), and four small basic intrinsic proteins (SIPs) based on sequence similarities and phylogenetic position. Gene structure analysis revealed a highly conserved exon-intron pattern within CaAQP subfamilies supporting the CaAQP family classification. Functional prediction based on conserved Ar/R selectivity filters, Froger's residues, and specificity-determining positions suggested wide differences in substrate specificity among the subfamilies of CaAQPs. Expression analysis of the AQP genes indicated that some of the genes are tissue-specific, whereas few other AQP genes showed differential expression in response to biotic and abiotic stresses. Promoter profiling of CaAQP genes for conserved cis-acting regulatory elements revealed enrichment of cis-elements involved in circadian control, light response, defense and stress responsiveness

  16. Family-Based Rare Variant Association Analysis: A Fast and Efficient Method of Multivariate Phenotype Association Analysis.

    Science.gov (United States)

    Wang, Longfei; Lee, Sungyoung; Gim, Jungsoo; Qiao, Dandi; Cho, Michael; Elston, Robert C; Silverman, Edwin K; Won, Sungho

    2016-09-01

    Family-based designs have been repeatedly shown to be powerful in detecting the significant rare variants associated with human diseases. Furthermore, human diseases are often defined by the outcomes of multiple phenotypes, and thus we expect multivariate family-based analyses may be very efficient in detecting associations with rare variants. However, few statistical methods implementing this strategy have been developed for family-based designs. In this report, we describe one such implementation: the multivariate family-based rare variant association tool (mFARVAT). mFARVAT is a quasi-likelihood-based score test for rare variant association analysis with multiple phenotypes, and tests both homogeneous and heterogeneous effects of each variant on multiple phenotypes. Simulation results show that the proposed method is generally robust and efficient for various disease models, and we identify some promising candidate genes associated with chronic obstructive pulmonary disease. The software of mFARVAT is freely available at http://healthstat.snu.ac.kr/software/mfarvat/, implemented in C++ and supported on Linux and MS Windows.

  17. Analysis of functional redundancies within the Arabidopsis TCP transcription factor family.

    Science.gov (United States)

    Danisman, Selahattin; van Dijk, Aalt D J; Bimbo, Andrea; van der Wal, Froukje; Hennig, Lars; de Folter, Stefan; Angenent, Gerco C; Immink, Richard G H

    2013-12-01

    Analyses of the functions of TEOSINTE-LIKE1, CYCLOIDEA, and PROLIFERATING CELL FACTOR1 (TCP) transcription factors have been hampered by functional redundancy between its individual members. In general, putative functionally redundant genes are predicted based on sequence similarity and confirmed by genetic analysis. In the TCP family, however, identification is impeded by relatively low overall sequence similarity. In a search for functionally redundant TCP pairs that control Arabidopsis leaf development, this work performed an integrative bioinformatics analysis, combining protein sequence similarities, gene expression data, and results of pair-wise protein-protein interaction studies for the 24 members of the Arabidopsis TCP transcription factor family. For this, the work completed any lacking gene expression and protein-protein interaction data experimentally and then performed a comprehensive prediction of potential functional redundant TCP pairs. Subsequently, redundant functions could be confirmed for selected predicted TCP pairs by genetic and molecular analyses. It is demonstrated that the previously uncharacterized class I TCP19 gene plays a role in the control of leaf senescence in a redundant fashion with TCP20. Altogether, this work shows the power of combining classical genetic and molecular approaches with bioinformatics predictions to unravel functional redundancies in the TCP transcription factor family.

  18. Beyond classification: gene-family phylogenies from shotgun metagenomic reads enable accurate community analysis.

    Science.gov (United States)

    Riesenfeld, Samantha J; Pollard, Katherine S

    2013-06-22

    Sequence-based phylogenetic trees are a well-established tool for characterizing diversity of both macroorganisms and microorganisms. Phylogenetic methods have recently been applied to shotgun metagenomic data from microbial communities, particularly with the aim of classifying reads. But the accuracy of gene-family phylogenies that characterize evolutionary relationships among short, non-overlapping sequencing reads has not been thoroughly evaluated. To quantify errors in metagenomic read trees, we developed MetaPASSAGE, a software pipeline to generate in silico bacterial communities, simulate a sample of shotgun reads from a gene family represented in the community, orient or translate reads, and produce a profile-based alignment of the reads from which a gene-family phylogenetic tree can be built. We applied MetaPASSAGE to a variety of RNA and protein-coding gene families, built trees using a range of different phylogenetic methods, and compared the resulting trees using topological and branch-length error metrics. We identified read length as one of the major sources of error. Because phylogenetic methods use a reference database of full-length sequences from the gene family to guide construction of alignments and trees, we found that error can also be substantially reduced through increasing the size and diversity of the reference database. Finally, UniFrac analysis, which compares metagenomic samples based on a summary statistic computed over all branches in a read tree, is very robust to the level of error we observe. Bacterial community diversity can be quantified using phylogenetic approaches applied to shotgun metagenomic data. As sequencing reads get longer and more genomes across the bacterial tree of life are sequenced, the accuracy of this approach will continue to improve, opening the door to more applications.

  19. FlyPhy: a phylogenomic analysis platform for Drosophila genes and gene families

    Directory of Open Access Journals (Sweden)

    Bao Qiyu

    2009-04-01

    Full Text Available Abstract Background The availability of 12 fully sequenced Drosophila species genomes provides an excellent opportunity to explore the evolutionary mechanism, structure and function of gene families in Drosophila. Currently, several important resources, such as FlyBase, FlyMine and DroSpeGe, have been devoted to integrating genetic, genomic, and functional data of Drosophila into a well-organized form. However, all of these resources are gene-centric and lack the information of the gene families in Drosophila. Description FlyPhy is a comprehensive phylogenomic analysis platform devoted to analyzing the genes and gene families in Drosophila. Genes were classified into families using a graph-based Markov Clustering algorithm and extensively annotated by a number of bioinformatic tools, such as basic sequence features, functional category, gene ontology terms, domain organization and sequence homolog to other databases. FlyPhy provides a simple and user-friendly web interface to allow users to browse and retrieve the information at multiple levels. An outstanding feature of the FlyPhy is that all the retrieved results can be added to a workset for further data manipulation. For the data stored in the workset, multiple sequence alignment, phylogenetic tree construction and visualization can be easily performed to investigate the sequence variation of each given family and to explore its evolutionary mechanism. Conclusion With the above functionalities, FlyPhy will be a useful resource and convenient platform for the Drosophila research community. The FlyPhy is available at http://bioinformatics.zj.cn/fly/.

  20. Analysis of substructural variation in families of enzymatic proteins with applications to protein function prediction

    Directory of Open Access Journals (Sweden)

    Fofanov Viacheslav Y

    2010-05-01

    Full Text Available Abstract Background Structural variations caused by a wide range of physico-chemical and biological sources directly influence the function of a protein. For enzymatic proteins, the structure and chemistry of the catalytic binding site residues can be loosely defined as a substructure of the protein. Comparative analysis of drug-receptor substructures across and within species has been used for lead evaluation. Substructure-level similarity between the binding sites of functionally similar proteins has also been used to identify instances of convergent evolution among proteins. In functionally homologous protein families, shared chemistry and geometry at catalytic sites provide a common, local point of comparison among proteins that may differ significantly at the sequence, fold, or domain topology levels. Results This paper describes two key results that can be used separately or in combination for protein function analysis. The Family-wise Analysis of SubStructural Templates (FASST method uses all-against-all substructure comparison to determine Substructural Clusters (SCs. SCs characterize the binding site substructural variation within a protein family. In this paper we focus on examples of automatically determined SCs that can be linked to phylogenetic distance between family members, segregation by conformation, and organization by homology among convergent protein lineages. The Motif Ensemble Statistical Hypothesis (MESH framework constructs a representative motif for each protein cluster among the SCs determined by FASST to build motif ensembles that are shown through a series of function prediction experiments to improve the function prediction power of existing motifs. Conclusions FASST contributes a critical feedback and assessment step to existing binding site substructure identification methods and can be used for the thorough investigation of structure-function relationships. The application of MESH allows for an automated

  1. Analysis of Seminar 82 - World Congress on Future Special Education "The Role of the Family in Early Childhood Education".

    Science.gov (United States)

    Updike, Juliette; Foley, Gilbert M.

    The paper is an analysis of seminar 82 of the World Congress on Future Special Education, "The Role of the Family in Early Childhood Education". Issues and problems, alternative solutions and strategies, and pros and cons are listed for each of the following four presentations: "An Assessment Scale - Family Attachment to the High Risk Infant" (G.…

  2. School- and Family-Level Socioeconomic Status and Health Behaviors: Multilevel Analysis of a National Survey in Wales, United Kingdom

    Science.gov (United States)

    Moore, Graham F.; Littlecott, Hannah J.

    2015-01-01

    Background: Interventions to address inequalities in adolescent health behaviors often target children from less affluent families, or schools in poorer areas. Few studies have examined whether school- or family-level affluence predicts health behaviors independently, or in combination. Methods: This article reports secondary analysis of the Welsh…

  3. Laying down the Family Burden: A Cross-Cultural Analysis of Resilience in the Midst of Family Violence

    Science.gov (United States)

    Kassis, Wassilis; Artz, Sibylle; Moldenhauer, Stephanie

    2013-01-01

    Questionnaire data from a cross-sectional study of a randomly selected sample of 5,149 middle-school students from four EU countries (Austria, Germany, Slovenia, and Spain) were used to explore the effects of family violence burden level, structural and procedural risk and protective factors, and personal characteristics on adolescents who are…

  4. Laying down the Family Burden: A Cross-Cultural Analysis of Resilience in the Midst of Family Violence

    Science.gov (United States)

    Kassis, Wassilis; Artz, Sibylle; Moldenhauer, Stephanie

    2013-01-01

    Questionnaire data from a cross-sectional study of a randomly selected sample of 5,149 middle-school students from four EU countries (Austria, Germany, Slovenia, and Spain) were used to explore the effects of family violence burden level, structural and procedural risk and protective factors, and personal characteristics on adolescents who are…

  5. [Early childhood handicaps in French Guyana: an analysis of relationships between families and professionals].

    Science.gov (United States)

    Gallibour, Eric

    2007-01-01

    The author reiterates that the transfer of public health policies to French Guyana has still not been able to fill in the gap related to delays in development of infrastructure and the lack of personnel in the social and medical establishments. The system of management for handicapped children in this French county is strongly influenced by the increasing immigrant population and by the vulnerability and instability of the administrative and socioeconomic situations of those families. Furthermore, the obstacles that the professionals from the socio-medical sector must confront in their daily practice and activities are described. An analysis of their portrayals and practices permit the author to show and outline their relationships with the immigrant families who are at risk, particularly that of maintaining and suffering from the general air of stigma to which they are objected to in the Guyanese society.

  6. Segregation analysis of 231 Ashkenazi Jewish families for evidence of additional breast cancer susceptibility genes.

    Science.gov (United States)

    Kaufman, David J; Beaty, Terri H; Struewing, Jeffery P

    2003-10-01

    Between 5 and 10% of breast cancer is attributable to inherited cancer susceptibility genes. Mutations in the genes BRCA1 and BRCA2 account for two-thirds of hereditary breast cancer cases. Using segregation analysis, families of cases without BRCA1/2 mutations were studied for statistical evidence of another major breast cancer gene in a community-based sample of Jewish probands tested previously for the presence of three BRCA founder mutations. A total of 231 probands with breast cancer, who do not carry a founder mutation, reported complete data on 602 female first-degree relatives of probands over age 20; 78 of these relatives had breast cancer. Segregation analysis was used to evaluate the likelihood of various genetic and nongenetic models. Sporadic, environmental, and general Mendelian genetic models fit the family data poorly and were rejected. A Mendelian recessive model fit better than dominant and codominant models, although none of these could be rejected. Cumulative incidence curves predicted by the recessive and codominant models fit observed incidence among first-degree relatives well. The assumption of Mendelian transmission of a major recessive gene(s) is compatible with the data. The recessive model predicts that 4% of women would carry the high-risk genotype, with 85% of them developing breast cancer by age 70. There was significant heterogeneity between these families and the 114 BRCA1/2 mutation-positive families from the same study population, implying that this apparent recessive effect is not because of undetected BRCA1/2 mutations. The study adds support for a major autosomal recessive component to breast cancer susceptibility.

  7. [Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].

    Science.gov (United States)

    Wei, Cui-jie; Wang, Dong; Wang, Shuo; Jiao, Hui; Hong, Dao-jun; Pu, Li-hua; Xiong, Hui

    2013-01-01

    Periodic paralysis (PP) is one type of skeletal muscle channelopathies characterized by episodic attacks of weakness. It is usually classified into hyperkalemic periodic paralysis (HyperPP), hypokalemic periodic paralysis (HypoPP) and normokalemic periodic paralysis (NormoPP) based on the blood potassium levels. HypoPP is the most common type of these three and NormoPP is the rarest one. The aim of this study was to explore the clinical and genetic features of a Chinese family with normokalemic periodic paralysis (NormoKPP). Clinical features of all patients in the family with NormoKPP were analyzed. Genomic DNA was extracted from peripheral blood leukocytes and amplified with PCR. We screened all 24 exons of SCN4A gene and then sequence analysis was performed in those who showed heteroduplex as compared with unaffected controls. (1) Fifteen members of the family were clinically diagnosed NormoKPP, and their common features are: onset within infacy, episodic attacks of weakness, the blood potassium levels were within normal ranges, high sodium diet or large dosage of normal saline could attenuate the symptom. One muscle biopsy was performed and examination of light and electronic microscopy showed occasionally degenerating myofibers. (2) Gene of 12 patients were screened and confirmed mutations of SCN4A genes--c. 2111 T > C/p. Thr704Met. The study further defined the clinical features of patients with NormoKPP, and molecular genetic analysis found SCN4A gene c. 2111 T > C/p. Thr704Met point mutation contributed to the disease. In line with the autosomal dominant inheritance laws, this family can be diagnosed with periodic paralysis, and be provided with genetic counseling. And the study may also help the clinical diagnosis, guide treatment and genetic counseling of this rare disease in China.

  8. The stigma of mental illness in Arab families: a concept analysis.

    Science.gov (United States)

    Dardas, L A; Simmons, L A

    2015-11-01

    The stigma of mental illness varies significantly from culture to culture and from person to person. To date, little is known about how mental illness stigma manifests within the Arab community. This study aimed at bringing clarity to the concept of 'mental illness stigma' as it applies to Arab families. Nursing's holistic and patient-centered approach is integral to helping Arab patients and their families appropriately incorporate individual values, beliefs, and cultural perspectives into treatment plans. This study establishes a scientific alert for professionals at all levels to avoid making false generalizations about a specific culture that are not based on specific research findings from that culture. Accessing mental health services is a critical step towards reducing the burden of mental illness. The stigma of mental illness is one of the most common reasons for not seeking mental health care leading to negative health consequences and undue suffering for many individuals and their families. Stigma is embedded in its social context. What may be considered acceptable in one society may be considered unacceptable and open to stigmatization in other societies. Arabs have a shared set of values, beliefs, and traditions that are substantially different from those of Westerners. Further, in most Arab countries, formal mental health resources are scarce and people with mental illness experience the compounded disadvantages of poverty and illness stigma. To date, little is known about how mental illness stigma manifests within the Arab community making it difficult to design and test interventions that support Arab individuals with mental illness and their families in treatment seeking and adherence. Using Rodger's concept analysis method, we examined how 'mental illness stigma' operates within an Arab context as a first step towards elucidating culturally competent approaches to treatment. This analysis provides a foundation for future work in the areas of mental

  9. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2012-02-01

    BACKGROUND: The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. METHOD: A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. RESULTS: 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. CONCLUSION: The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.

  10. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2010-11-03

    Background The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed. Method A Medline literature review identified all original articles reporting a rate of FALS. Studies were grouped according to the type of data presented and examined for sources of case ascertainment. A systematic review and meta-analysis of reported rates of FALS was then conducted to facilitate comparison between studies and calculate a pooled rate of FALS. Results 38 papers reported a rate of FALS. Thirty-three papers were included in analysis and the rate of FALS for all studies was 4.6% (95% CI 3.9% to 5.5%). Restricting the analysis to prospective population based registry data revealed a rate of 5.1% (95% CI 4.1% to 6.1%). The incidence of FALS was lower in southern Europe. There was no correlation between rate of FALS and reported SOD1 mutation rates. Conclusion The rate of FALS among prospective population based registries is 5.1% (CI 4.1 to 6.1%), and not 10% as is often stated. Further detailed prospective population based studies of familial ALS are required to confirm this rate.

  11. Genomewide identification and expression analysis of the ARF gene family in apple

    Indian Academy of Sciences (India)

    Xiao-Cui Luo; Mei-Hong Sun; Rui-Rui Xu; Huai-Rui Shu; Jai-Wei Wang; Shi-Zhong Zhang

    2014-12-01

    Auxin response factors (ARF) are transcription factors that regulate auxin responses in plants. Although the genomewide analysis of this family has been performed in some species, little is known regarding ARF genes in apple (Malus domestica). In this study, 31 putative apple ARF genes have been identified and located within the apple genome. The phylogenetic analysis revealed that MdARFs could be divided into three subfamilies (groups I, II and III). The predicted MdARFs were distributed across 15 of 17 chromosomes with different densities. In addition, the analysis of exon–intron junctions and of the intron phase inside the predicted coding region of each candidate gene has revealed high levels of conservation within and between phylogenetic groups. Expression profile analyses of MdARF genes were performed in different tissues (root, stem, leaf, flower and fruit), and all the selected genes were expressed in at least one of the tissues that were tested, which indicated that MdARFs are involved in various aspects of physiological and developmental processes of apple. To our knowledge, this report is the first to provide a genomewide analysis of the apple ARF gene family. This study provides valuable information for understanding the classification and putative functions of the ARF signal in apple.

  12. Molecular analysis of a family with three cases of first cousins with free trisomy 21 excludes the existence of a familial predisposing factor for nondisjunction

    Energy Technology Data Exchange (ETDEWEB)

    Girginoudis, P.; Avramopoulos, D. [Diagnostic Genetic Center, Athens (Greece); Robert, E. [Institut Europeen des Genomutations, Lyon (France)] [and others

    1994-09-01

    We have studied a French family with three individuals, paternally related first cousins, that presented free and complete trisomy 21. Using short sequence repeat polymorphisms from chromosome 21, we analyzed the DNA of two of the three affected individuals that were available. We determined the parental origin of the supernumerary chromosome in both cases. The trisomy in these cases was found to be due to maternal meiotic errors. Since the individuals were related through their paternal grandparents (their fathers were siblings) we conclude that the recurrence of trisomy 21 in this family is a result of chance and is not due to any possible genetic predisposing factors. This is in accordance with previous results on recurrent trisomy 21 families, where predisposing factors were also often excluded through the same kind of analysis.

  13. Genome-Wide Analysis of the RNA Helicase Gene Family in Gossypium raimondii

    Directory of Open Access Journals (Sweden)

    Jie Chen

    2014-03-01

    Full Text Available The RNA helicases, which help to unwind stable RNA duplexes, and have important roles in RNA metabolism, belong to a class of motor proteins that play important roles in plant development and responses to stress. Although this family of genes has been the subject of systematic investigation in Arabidopsis, rice, and tomato, it has not yet been characterized in cotton. In this study, we identified 161 putative RNA helicase genes in the genome of the diploid cotton species Gossypium raimondii. We classified these genes into three subfamilies, based on the presence of either a DEAD-box (51 genes, DEAH-box (52 genes, or DExD/H-box (58 genes in their coding regions. Chromosome location analysis showed that the genes that encode RNA helicases are distributed across all 13 chromosomes of G. raimondii. Syntenic analysis revealed that 62 of the 161 G. raimondii helicase genes (38.5% are within the identified syntenic blocks. Sixty-six (40.99% helicase genes from G. raimondii have one or several putative orthologs in tomato. Additionally, GrDEADs have more conserved gene structures and more simple domains than GrDEAHs and GrDExD/Hs. Transcriptome sequencing data demonstrated that many of these helicases, especially GrDEADs, are highly expressed at the fiber initiation stage and in mature leaves. To our knowledge, this is the first report of a genome-wide analysis of the RNA helicase gene family in cotton.

  14. Genome-wide analysis of the WRKY gene family in physic nut (Jatropha curcas L.).

    Science.gov (United States)

    Xiong, Wangdan; Xu, Xueqin; Zhang, Lin; Wu, Pingzhi; Chen, Yaping; Li, Meiru; Jiang, Huawu; Wu, Guojiang

    2013-07-25

    The WRKY proteins, which contain highly conserved WRKYGQK amino acid sequences and zinc-finger-like motifs, constitute a large family of transcription factors in plants. They participate in diverse physiological and developmental processes. WRKY genes have been identified and characterized in a number of plant species. We identified a total of 58 WRKY genes (JcWRKY) in the genome of the physic nut (Jatropha curcas L.). On the basis of their conserved WRKY domain sequences, all of the JcWRKY proteins could be assigned to one of the previously defined groups, I-III. Phylogenetic analysis of JcWRKY genes with Arabidopsis and rice WRKY genes, and separately with castor bean WRKY genes, revealed no evidence of recent gene duplication in JcWRKY gene family. Analysis of transcript abundance of JcWRKY gene products were tested in different tissues under normal growth condition. In addition, 47 WRKY genes responded to at least one abiotic stress (drought, salinity, phosphate starvation and nitrogen starvation) in individual tissues (leaf, root and/or shoot cortex). Our study provides a useful reference data set as the basis for cloning and functional analysis of physic nut WRKY genes.

  15. Power analysis of QTL detection in half-sib families using selective DNA pooling

    Directory of Open Access Journals (Sweden)

    López Teresa

    2001-05-01

    Full Text Available Abstract Individual loci of economic importance (QTL can be detected by comparing the inheritance of a trait and the inheritance of loci with alleles readily identifiable by laboratory methods (genetic markers. Data on allele segregation at the individual level are costly and alternatives have been proposed that make use of allele frequencies among progeny, rather than individual genotypes. Among the factors that may affect the power of the set up, the most important are those intrinsic to the QTL: the additive effect of the QTL, and its dominance, and distance between markers and QTL. Other factors are relative to the choice of animals and markers, such as the frequency of the QTL and marker alleles among dams and sires. Data collection may affect the detection power through the size of half-sib families, selection rate within families, and the technical error incurred when estimating genetic frequencies. We present results for a sensitivity analysis for QTL detection using pools of DNA from selected half-sibs. Simulations showed that conclusive detection may be achieved with families of at least 500 half-sibs if sires are chosen on the criteria that most of their marker alleles are either both missing, or one is fixed, among dams.

  16. Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data.

    Science.gov (United States)

    Dudbridge, Frank

    2008-01-01

    Missing data occur in genetic association studies for several reasons including missing family members and uncertain haplotype phase. Maximum likelihood is a commonly used approach to accommodate missing data, but it can be difficult to apply to family-based association studies, because of possible loss of robustness to confounding by population stratification. Here a novel likelihood for nuclear families is proposed, in which distinct sets of association parameters are used to model the parental genotypes and the offspring genotypes. This approach is robust to population structure when the data are complete, and has only minor loss of robustness when there are missing data. It also allows a novel conditioning step that gives valid analysis for multiple offspring in the presence of linkage. Unrelated subjects are included by regarding them as the children of two missing parents. Simulations and theory indicate similar operating characteristics to TRANSMIT, but with no bias with missing data in the presence of linkage. In comparison with FBAT and PCPH, the proposed model is slightly less robust to population structure but has greater power to detect strong effects. In comparison to APL and MITDT, the model is more robust to stratification and can accommodate sibships of any size. The methods are implemented for binary and continuous traits in software, UNPHASED, available from the author.

  17. Nature of protein family signatures: insights from singular value analysis of position-specific scoring matrices.

    Directory of Open Access Journals (Sweden)

    Akira R Kinjo

    Full Text Available Position-specific scoring matrices (PSSMs are useful for detecting weak homology in protein sequence analysis, and they are thought to contain some essential signatures of the protein families. In order to elucidate what kind of ingredients constitute such family-specific signatures, we apply singular value decomposition to a set of PSSMs and examine the properties of dominant right and left singular vectors. The first right singular vectors were correlated with various amino acid indices including relative mutability, amino acid composition in protein interior, hydropathy, or turn propensity, depending on proteins. A significant correlation between the first left singular vector and a measure of site conservation was observed. It is shown that the contribution of the first singular component to the PSSMs act to disfavor potentially but falsely functionally important residues at conserved sites. The second right singular vectors were highly correlated with hydrophobicity scales, and the corresponding left singular vectors with contact numbers of protein structures. It is suggested that sequence alignment with a PSSM is essentially equivalent to threading supplemented with functional information. In addition, singular vectors may be useful for analyzing and annotating the characteristics of conserved sites in protein families.

  18. Global Analysis of miRNA Gene Clusters and Gene Families Reveals Dynamic and Coordinated Expression

    Directory of Open Access Journals (Sweden)

    Li Guo

    2014-01-01

    Full Text Available To further understand the potential expression relationships of miRNAs in miRNA gene clusters and gene families, a global analysis was performed in 4 paired tumor (breast cancer and adjacent normal tissue samples using deep sequencing datasets. The compositions of miRNA gene clusters and families are not random, and clustered and homologous miRNAs may have close relationships with overlapped miRNA species. Members in the miRNA group always had various expression levels, and even some showed larger expression divergence. Despite the dynamic expression as well as individual difference, these miRNAs always indicated consistent or similar deregulation patterns. The consistent deregulation expression may contribute to dynamic and coordinated interaction between different miRNAs in regulatory network. Further, we found that those clustered or homologous miRNAs that were also identified as sense and antisense miRNAs showed larger expression divergence. miRNA gene clusters and families indicated important biological roles, and the specific distribution and expression further enrich and ensure the flexible and robust regulatory network.

  19. Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

    Science.gov (United States)

    Moghbeli, Meysam; Maleknejad, Mahmood; Arabi, Azadeh; Abbaszadegan, Mohammad Reza

    2012-06-01

    Porphyrias are rare metabolic hereditary diseases originating from defects in specific enzymes involved in the heme biosynthesis pathway. Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase (UROS), the fourth enzyme in heme biosynthesis. CEP leads to an excessive production and accumulation of type Ι porphyrins in bone marrow, skin and several other tissues. Clinical manifestations are presented in childhood with severe cutaneous photosensitivity, blistering, scarring and deformation of the hands and the loss of eyebrows and eyelashes. Less than 200 cases of CEP have been reported to date. Four CEP patients and their family members were studied for the first time in Iran. A missense mutation in the UROS gene was identified in this family. A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in these 4 patients and heterozygous state in their parents. Our data from the Iranian population emphasizes the importance of codon 237 alone, given the rarity of this disease. This fact can be taken into consideration in the mutational analysis of UROS. This work emphasizes the advantages of molecular genetic techniques as diagnostic tools for the detection of clinically asymptomatic heterozygous mutation carriers as well as CEP within families.

  20. Changing fortunes: analysis of fluctuating policy space for family planning in Kenya.

    Science.gov (United States)

    Crichton, Joanna

    2008-09-01

    Policies relating to contraceptive services (population, family planning and reproductive health policies) often receive weak or fluctuating levels of commitment from national policy elites in Southern countries, leading to slow policy evolution and undermining implementation. This is true of Kenya, despite the government's early progress in committing to population and reproductive health policies, and its success in implementing them during the 1980s. This key informant study on family planning policy in Kenya found that policy space contracted, and then began to expand, because of shifts in contextual factors, and because of the actions of different actors. Policy space contracted during the mid-1990s in the context of weakening prioritization of reproductive health in national and international policy agendas, undermining access to contraceptive services and contributing to the stalling of the country's fertility rates. However, during the mid-2000s, champions of family planning within the Kenyan Government bureaucracy played an important role in expanding the policy space through both public and hidden advocacy activities. The case study demonstrates that policy space analysis can provide useful insights into the dynamics of routine policy and programme evolution and the challenge of sustaining support for issues even after they have reached the policy agenda.

  1. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

    Directory of Open Access Journals (Sweden)

    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  2. Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females.

    Science.gov (United States)

    Abdulrazzaq, Y M; Micallef, R; Qureshi, M; Dawodu, A; Ahmed, I; Khidr, A; Bastaki, S M; Al-Khayat, A; Bayoumi, R A

    1999-01-01

    The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals. All infants born at Tawam Hospital, Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status. In addition, those attending well-baby clinics during the period were also screened for the disorder. Families of 40 known G6PD-deficient individuals, selected randomly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6PD mutations. Of 8198 infants, 746 (9.1%), comprising 15% of males and 5% of females tested, were found to be G6PD deficient. A total of 27 families were further assessed: of these, all but one family had the nt563 Mediterranean mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. The high level of consanguinity which, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not found to be a significant factor.

  3. Use of the EM algorithm to detect QTL affecting multiple-traits in an across half-sib family analysis

    Directory of Open Access Journals (Sweden)

    McLachlan GM

    2005-01-01

    Full Text Available Abstract QTL detection experiments in livestock species commonly use the half-sib design. Each male is mated to a number of females, each female producing a limited number of progeny. Analysis consists of attempting to detect associations between phenotype and genotype measured on the progeny. When family sizes are limiting experimenters may wish to incorporate as much information as possible into a single analysis. However, combining information across sires is problematic because of incomplete linkage disequilibrium between the markers and the QTL in the population. This study describes formulæ for obtaining MLEs via the expectation maximization (EM algorithm for use in a multiple-trait, multiple-family analysis. A model specifying a QTL with only two alleles, and a common within sire error variance is assumed. Compared to single-family analyses, power can be improved up to fourfold with multi-family analyses. The accuracy and precision of QTL location estimates are also substantially improved. With small family sizes, the multi-family, multi-trait analyses reduce substantially, but not totally remove, biases in QTL effect estimates. In situations where multiple QTL alleles are segregating the multi-family analysis will average out the effects of the different QTL alleles.

  4. Recombination analysis of autosomal short tandem repeats in Chinese Han families.

    Science.gov (United States)

    Liu, Qiu-Ling; Luo, Hong; Zhao, Hu; Huang, Xiao-Ling; Cheng, Jian-Ding; Lu, De-Jian

    2014-03-01

    Recombination fractions between forensic STRs can be extrapolated from the International HapMap Project, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STRs because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from HapMap phase SNP data. Genotypes of nine autosomal STR pairs (TPOX-D2S1772, D5S818-CSF1PO, D7S3048-D7S820, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, D18S51-D18S1364, and D21S11-PentaD) from 207 two-generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination. The linkage analysis showed that significant linkage was observed at six STR pairs (D5S818-CSF1PO, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, and D18S51-D18S1364) with genetic distances HapMap. Their recombination fractions calculated from family data were very close to those derived from HapMap. However, three STR pairs of TPOX-D2S1772, D7S3048-D7S820, and D21S11-PentaD showed no significant linkage with genetic distances from 43.38 to 91.49 cM. Our results indicate that recombination fractions extrapolated from HapMap can provide a substitute if empirical data are unavailable for the linkage STR pair with a genetic distance spanned <36.22 cM.

  5. Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

    Science.gov (United States)

    Hellwege, Jacklyn N; Palmer, Nicholette D; Raffield, Laura M; Ng, Maggie C Y; Hawkins, Gregory A; Long, Jirong; Lorenzo, Carlos; Norris, Jill M; Ida Chen, Y-D; Speliotes, Elizabeth K; Rotter, Jerome I; Langefeld, Carl D; Wagenknecht, Lynne E; Bowden, Donald W

    2014-05-01

    Linkage analysis of complex traits has had limited success in identifying trait-influencing loci. Recently, coding variants have been implicated as the basis for some biomedical associations. We tested whether coding variants are the basis for linkage peaks of complex traits in 42 African-American (n = 596) and 90 Hispanic (n = 1,414) families in the Insulin Resistance Atherosclerosis Family Study (IRASFS) using Illumina HumanExome Beadchips. A total of 92,157 variants in African Americans (34%) and 81,559 (31%) in Hispanics were polymorphic and tested using two-point linkage and association analyses with 37 cardiometabolic phenotypes. In African Americans 77 LOD scores greater than 3 were observed. The highest LOD score was 4.91 with the APOE SNP rs7412 (MAF = 0.13) with plasma apolipoprotein B (ApoB). This SNP was associated with ApoB (P-value = 4 × 10(-19)) and accounted for 16.2% of the variance in African Americans. In Hispanic families, 104 LOD scores were greater than 3. The strongest evidence of linkage (LOD = 4.29) was with rs5882 (MAF = 0.46) in CETP with HDL. CETP variants were strongly associated with HDL (0.00049 evidence of strong linkage in this genome wide survey of primarily coding variants was uncommon. Loci with strong evidence of linkage was characterized by large contributions to the variance, and, in these cases, are common variants. Less compelling evidence of linkage and association was observed with additional loci that may require larger family sets to confirm. © 2014 WILEY PERIODICALS, INC.

  6. Gene Expression Divergence and Evolutionary Analysis of the Drosomycin Gene Family in Drosophila melanogaster

    Directory of Open Access Journals (Sweden)

    Xiao-Juan Deng

    2009-01-01

    Full Text Available Drosomycin (Drs encoding an inducible 44-residue antifungal peptide is clustered with six additional genes, Dro1, Dro2, Dro3, Dro4, Dro5, and Dro6, forming a multigene family on the 3L chromosome arm in Drosophila melanogaster. To get further insight into the regulation of each member of the drosomycin gene family, here we investigated gene expression patterns of this family by either microbe-free injury or microbial challenges using real time RT-PCR. The results indicated that among the seven drosomycin genes, Drs, Dro2, Dro3, Dro4, and Dro5 showed constitutive expressions. Three out of five, Dro2, Dro3, and Dro5, were able to be upregulated by simple injury. Interestingly, Drs is an only gene strongly upregulated when Drosophila was infected with microbes. In contrast to these five genes, Dro1 and Dro6 were not transcribed at all in either noninfected or infected flies. Furthermore, by 5′ rapid amplification of cDNA ends, two transcription start sites were identified in Drs and Dro2, and one in Dro3, Dro4, and Dro5. In addition, NF-κB binding sites were found in promoter regions of Drs, Dro2, Dro3, and Dro5, indicating the importance of NF-κB binding sites for the inducibility of drosomycin genes. Based on the analyses of flanking sequences of each gene in D. melanogaster and phylogenetic relationship of drosomycins in D. melanogaster species-group, we concluded that gene duplications were involved in the formation of the drosomycin gene family. The possible evolutionary fates of drosomycin genes were discussed according to the combining analysis of gene expression pattern, gene structure, and functional divergence of these genes.

  7. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis

    National Research Council Canada - National Science Library

    Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

    2015-01-01

    ...; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors...

  8. Identification and in silico analysis of the Citrus HSP70 molecular chaperone gene family

    Directory of Open Access Journals (Sweden)

    Luciano G. Fietto

    2007-01-01

    Full Text Available The completion of the genome sequencing of the Arabidopsis thaliana model system provided a powerful molecular tool for comparative analysis of gene families present in the genome of economically relevant plant species. In this investigation, we used the sequences of the Arabidopsis Hsp70 gene family to identify and annotate the Citrus Hsp70 genes represented in the CitEST database. Based on sequence comparison analysis, we identified 18 clusters that were further divided into 5 subgroups encoding four mitochondrial mtHsp70s, three plastid csHsp70s, one ER luminal Hsp70 BiP, two HSP110/SSE-related proteins and eight cytosolic Hsp/Hsc70s. We also analyzed the expression profile by digital Northern of each Hsp70 transcript in different organs and in response to stress conditions. The EST database revealed a distinct population distribution of Hsp70 ESTs among isoforms and across the organs surveyed. The Hsp70-5 isoform was highly expressed in seeds, whereas BiP, mitochondrial and plastid HSp70 mRNAs displayed a similar expression profile in the organs analyzed, and were predominantly represented in flowers. Distinct Hsp70 mRNAs were also differentially expressed during Xylella infection and Citrus tristeza viral infection as well as during water deficit. This in silico study sets the groundwork for future investigations to fully characterize functionally the Citrus Hsp70 family and underscores the relevance of Hsp70s in response to abiotic and biotic stresses in Citrus.

  9. Personality endophenotypes for bipolar affective disorder: a family-based genetic association analysis.

    Science.gov (United States)

    Savitz, J; van der Merwe, L; Ramesar, R

    2008-11-01

    Genetic analyses of complex conditions such as bipolar disorder (BD) may be facilitated by the use of intermediate phenotypes. Various personality traits are overrepresented in people with BD and their unaffected relatives, and may constitute genetically transmitted risk factors or endophenotypes of the illness. In this study, we administered a battery of seven different personality questionnaires comprising 19 subscales to 31 Caucasian BD families (n = 241). Ten of these personality traits showed significant evidence of heritability and were therefore selected as candidate endophenotypes. In addition, a principal components analysis produced two heritable components (negative affect and appetitive drive), which accounted for a considerable proportion of the variance (29% + 12%) and were also used in the analysis. A family-based quantitative association study was carried out using the orthogonal model from the quantitative transmission disequilibrium tests (QTDT) program. Monte Carlo permutations (M = 500), which allow for non-normal data and provide a global P value, corrected for multiple testing, were used to calculate empirical P values for the within-family component of association. The 3' untranslated region repeat polymorphism of the dopamine transporter gene (SLC6A3) was associated with self-directedness (P personality traits, 'Spirituality' (P = 0.040) and irritable temperament (P = 0.022). Furthermore, the met allele of the brain-derived neurotrophic factor val66met polymorphism was associated with higher hyperthymic temperament scores. We raise the possibility that the 10R allele of the SLC6A3 repeat polymorphism and the short allele of the SLC6A4 promoter variant constitute risk factors for irritable-aggressive and anxious-dysthymic subtypes of BD, respectively.

  10. Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

    Science.gov (United States)

    Salvi, Alessandro; Giacopuzzi, Edoardo; Bardellini, Elena; Amadori, Francesca; Ferrari, Lia; De Petro, Giuseppina; Borsani, Giuseppe; Majorana, Alessandra

    2016-01-01

    Dental agenesis is one of the most common congenital craniofacial abnormalities. Dental agenesis can be classified, relative to the number of missing teeth (excluding third molars), as hypodontia (1 to 5 missing teeth), oligodontia (6 or more missing teeth), or anodontia (lack of all teeth). Tooth agenesis may occur either in association with genetic syndromes, based on the presence of other inherited abnormalities, or as a non-syndromic trait, with both familiar and sporadic cases reported. In this study, we enrolled 16 individuals affected by tooth agenesis, prevalently hypodontia, and we carried out direct Sanger sequencing of paired box 9 (PAX9) and Msh homeobox 1 (MSX1) genes in 9 subjects. Since no mutations were identified, we performed whole exome sequencing (WES) in the members of 5 families to identify causative gene mutations either novel or previously described. Three individuals carried a known homozygous disease mutation in the Wnt family member 10A (WNT10A) gene (rs121908120). Interestingly, two of these individuals were siblings and also carried a heterozygous functional variant in EDAR-associated death domain (EDARADD) (rs114632254), another disease causing gene, generating a combination of genetic variants never described until now. The analysis of exome sequencing data in the members of other 3 families highlighted new candidate genes potentially involved in tooth agenesis and considered suitable for future studies. Overall, our study confirmed the major role played by WNT10A in tooth agenesis and the genetic heterogeneity of this disease. Moreover, as more genes are shown to be involved in tooth agenesis, WES analysis may be an effective approach to search for genetic variants in familiar or sporadic tooth agenesis, at least in more severe clinical manifestations. PMID:27665865

  11. Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer

    Directory of Open Access Journals (Sweden)

    Seyed Mohsen Miresmaeili

    2016-04-01

    Full Text Available Background: Breast cancer is the most common malignancy in women. Breast Cancer Type 1 Susceptibility gene (BRCA1 is a tumor suppressor gene, involved in DNA damage repair and in 81% of the breast-ovarian cancer families were due to BRCA1. In some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem repeat (STR polymorphism. Individual polymorphism of STR is a good evidence for following inheritance of repeat polymorphism. Objective: The aim of this study was to evaluate three intragenic BRCA1 marker polymorphisms in families, which have two or more patients with breast/ovarian cancer in comparison to healthy women. Materials and Methods: A total of 107 breast and/or ovarian cancer patients and 93 unrelated healthy women with no clinical phenotype of any malignancy or familial cancer history constitute the study groups. Haplotyping analysis, at 3 intragenic BRCA1 microsatellite markers (D17S855, D17S1322 and D17S1323, were performed for all subject and control groups using labeled primers. Results: After fragment analysis, significance differences were observed as follows: two alleles of D17S855; allele 146 (p=0.02 and 150 (p=0.006, and two alleles of D17S1322, allele 121 (p=0.015 and 142 (p=0.043. These differences were compared with control group. There was significance difference in 8 di/tri allelic haplotypes in present experimental subjects. Some haplotypes were observed to have approximately twice the relation risk for breast cancer. Conclusion: According to recent results, assessment of presence or absence of mentioned alleles in BRCA1 microsatellite can be used for prognosis in individuals, suspected of having or not having the breast cancer.

  12. A Protein Domain and Family Based Approach to Rare Variant Association Analysis

    Science.gov (United States)

    Richardson, Tom G.; Shihab, Hashem A.; Rivas, Manuel A.; McCarthy, Mark I.; Campbell, Colin; Timpson, Nicholas J.; Gaunt, Tom R.

    2016-01-01

    Background It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit. Methods Using Pfam definitions, we collapsed rare variants (Minor Allele Frequency ≤ 1%) together in three different ways 1) variants within single genomic regions which map to individual protein domains 2) variants within two individual protein domain regions which are predicted to be responsible for a protein-protein interaction 3) all variants within combined regions from multiple genes responsible for coding the same protein domain (i.e. protein families). A conventional collapsing analysis using gene coordinates was also undertaken for comparison. We used UK10K sequence data and investigated associations between regions of variants and lipid traits using the sequence kernel association test (SKAT). Results We observed no strong evidence of association between regions of variants based on Pfam domain definitions and lipid traits. Quantile-Quantile plots illustrated that the overall distributions of p-values from the protein domain analyses were comparable to that of a conventional gene-based approach. Deviations from this distribution suggested that collapsing by either protein domain or gene definitions may be favourable depending on the trait analysed. Conclusion We have collapsed rare variants together using protein domain and family coordinates to present an alternative approach over collapsing across conventionally used gene-based regions. Although no strong evidence of association was detected in these analyses, future studies may still find value in adopting these approaches to detect previously unidentified association signals. PMID:27128313

  13. A Protein Domain and Family Based Approach to Rare Variant Association Analysis.

    Directory of Open Access Journals (Sweden)

    Tom G Richardson

    Full Text Available It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit.Using Pfam definitions, we collapsed rare variants (Minor Allele Frequency ≤ 1% together in three different ways 1 variants within single genomic regions which map to individual protein domains 2 variants within two individual protein domain regions which are predicted to be responsible for a protein-protein interaction 3 all variants within combined regions from multiple genes responsible for coding the same protein domain (i.e. protein families. A conventional collapsing analysis using gene coordinates was also undertaken for comparison. We used UK10K sequence data and investigated associations between regions of variants and lipid traits using the sequence kernel association test (SKAT.We observed no strong evidence of association between regions of variants based on Pfam domain definitions and lipid traits. Quantile-Quantile plots illustrated that the overall distributions of p-values from the protein domain analyses were comparable to that of a conventional gene-based approach. Deviations from this distribution suggested that collapsing by either protein domain or gene definitions may be favourable depending on the trait analysed.We have collapsed rare variants together using protein domain and family coordinates to present an alternative approach over collapsing across conventionally used gene-based regions. Although no strong evidence of association was detected in these analyses, future studies may still find value in adopting these approaches to detect previously unidentified association signals.

  14. Family/children cash benefits in Serbia: The analysis and policy recommendations

    Directory of Open Access Journals (Sweden)

    Matković Gordana

    2014-01-01

    , seems the least controversial measure. When it comes to child allowance benefits, comparative analysis shows that it is more important to increase the coverage rather than to increase the amount. Elimination of requirement for the parents to be covered with health insurance, allowing child allowance right for 4 children (instead of the first 4 children in the family and relaxation of property criteria could act toward this end. Both from the perspective of improving the coverage and better targeting, the cadastral revenue as eligibility criteria for agricultural households should be replaced with some more realistic criteria. When it comes to child-birth related leaves, due to evidence of misuse of maternity/parental leave benefit by formal employment registration just a few months before child’s birth, one of the recommendations is to prolong the benefit calculation period, while at the same time extending the coverage for women with flexible jobs. Also, the introduction of flexible arrangements for parental leave, such as a choosing different combinations of benefit level and leave duration, part-time work and similar. Speaking of birth grants, there are advantages of introducing one-off payment instead of payment in installments, which actually implies returning to the model before changes were introduced in 2005. In addition, indexation of property threshold should be introduced. Finally, there is a need for benefits’ consolidation and simplification of administrative procedures.

  15. A primary sequence analysis of the ARGONAUTE protein family in plants.

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    Daniel Rodriguez-Leal

    2016-08-01

    Full Text Available Small RNA (sRNA-mediated gene silencing represents a conserved regulatory mechanism controlling a wide diversity of developmental processes through interactions of sRNAs with proteins of the ARGONAUTE (AGO family. On the basis of a large phylogenetic analysis that includes 206 AGO genes belonging to 23 plant species, AGO genes group into four clades corresponding to the phylogenetic distribution proposed for the ten family members of Arabidopsis thaliana. A primary analysis of the corresponding protein sequences resulted in 50 sequences of amino acids (blocks conserved across their linear length. Protein members of the AGO4/6/8/9 and AGO1/10 clades are more conserved than members of the AGO5 and AGO2/3/7 clades. In addition to blocks containing components of the PIWI, PAZ, and DUF1785 domains, members of the AGO2/3/7 and AGO4/6/8/9 clades possess other consensus block sequences that are exclusive of members within these clades, suggesting unforeseen functional specialization revealed by their primary sequence. We also show that AGO proteins of animal and plant kingdoms share linear sequences of blocks that include motifs involved in posttranslational modifications such as those regulating AGO2 in humans and the PIWI protein AUBERGINE in Drosophila. Our results open possibilities for exploring new structural and functional aspects related to the evolution of AGO proteins within the plant kingdom, and their convergence with analogous proteins in mammals and invertebrates.

  16. Complete genome of Cobetia marina JCM 21022T and phylogenomic analysis of the family Halomonadaceae

    Science.gov (United States)

    Tang, Xianghai; Xu, Kuipeng; Han, Xiaojuan; Mo, Zhaolan; Mao, Yunxiang

    2016-09-01

    Cobetia marina is a model proteobacteria in researches on marine biofouling. Its taxonomic nomenclature has been revised many times over the past few decades. To better understand the role of the surface-associated lifestyle of C. marina and the phylogeny of the family Halomonadaceae, we sequenced the entire genome of C. marina JCM 21022T using single molecule real-time sequencing technology (SMRT) and performed comparative genomics and phylogenomics analyses. The circular chromosome was 4 176 300 bp with an average GC content of 62.44% and contained 3 611 predicted coding sequences, 72 tRNA genes, and 21 rRNA genes. The C. marina JCM 21022T genome contained a set of crucial genes involved in surface colonization processes. The comparative genome analysis indicated the significant diff erences between C. marina JCM 21022T and Cobetia amphilecti KMM 296 (formerly named C. marina KMM 296) resulted from sequence insertions or deletions and chromosomal recombination. Despite these diff erences, pan and core genome analysis showed similar gene functions between the two strains. The phylogenomic study of the family Halomonadaceae is reported here for the first time. We found that the relationships were well resolved among every genera tested, including Chromohalobacter, Halomonas, Cobetia, Kushneria, Zymobacter, and Halotalea.

  17. The mediation police in family and couple conflict: analysis of the agreements

    Directory of Open Access Journals (Sweden)

    Diego Becerril

    2017-01-01

    Full Text Available Mediation is an alternative, increasingly implemented, for the resolution of conflicts outside the judicial sphere and one of its applications in conflicts reported to the police. The present work is part of an experience of police mediation that has been carried out during the years 2012-2014. Two data collection techniques have been applied: on the one hand, in the analysis of the files, with the whole set of variables that may be applicable; And by performing questionnaires to the parties involved. The two conditions adopted as a criterion in the selection of cases that refer to family conflicts of partners and which were registered in a resolution agreement. With these data, the analysis affects, beyond the characteristics, in the satisfaction of the process and the permanence of the conflict. As conclusions, the incidence of sociodemographic variables, especially the level of studies and occupational and the high degree of satisfaction and recommendation of the service, stands out. However, there is a high rate of repetition of conflicts, especially in cases of family conflicts.

  18. A Primary Sequence Analysis of the ARGONAUTE Protein Family in Plants

    Science.gov (United States)

    Rodríguez-Leal, Daniel; Castillo-Cobián, Amanda; Rodríguez-Arévalo, Isaac; Vielle-Calzada, Jean-Philippe

    2016-01-01

    Small RNA (sRNA)-mediated gene silencing represents a conserved regulatory mechanism controlling a wide diversity of developmental processes through interactions of sRNAs with proteins of the ARGONAUTE (AGO) family. On the basis of a large phylogenetic analysis that includes 206 AGO genes belonging to 23 plant species, AGO genes group into four clades corresponding to the phylogenetic distribution proposed for the ten family members of Arabidopsis thaliana. A primary analysis of the corresponding protein sequences resulted in 50 sequences of amino acids (blocks) conserved across their linear length. Protein members of the AGO4/6/8/9 and AGO1/10 clades are more conserved than members of the AGO5 and AGO2/3/7 clades. In addition to blocks containing components of the PIWI, PAZ, and DUF1785 domains, members of the AGO2/3/7 and AGO4/6/8/9 clades possess other consensus block sequences that are exclusive of members within these clades, suggesting unforeseen functional specialization revealed by their primary sequence. We also show that AGO proteins of animal and plant kingdoms share linear sequences of blocks that include motifs involved in posttranslational modifications such as those regulating AGO2 in humans and the PIWI protein AUBERGINE in Drosophila. Our results open possibilities for exploring new structural and functional aspects related to the evolution of AGO proteins within the plant kingdom, and their convergence with analogous proteins in mammals and invertebrates. PMID:27635128

  19. Social stressors, coping behaviors, and depressive symptoms: A latent profile analysis of adolescents in military families.

    Science.gov (United States)

    Okafor, Ebony; Lucier-Greer, Mallory; Mancini, Jay A

    2016-08-01

    We investigated the relationship between context-specific social stressors, coping behaviors, and depressive symptoms among adolescents in active duty military families across seven installations (three of which were in Europe) (N = 1036) using a person-centered approach and a stress process theoretical framework. Results of the exploratory latent profile analysis revealed four distinct coping profiles: Disengaged Copers, Troubled Copers, Humor-intensive Copers, and Active Copers. Multinomial logistic regressions found no relationship between military-related stressors (parental separation, frequent relocations, and parental rank) and profile membership. Analysis of variance results revealed significant and meaningful differences between the coping profiles and depressive symptomology, specifically somatic symptoms, depressive affect, positive affect, and interpersonal problems. Post-hoc analyses revealed that Active Copers, the largest profile, reported the fewest depressive symptoms. Accordingly, frequent use of diverse, active coping behaviors was associated with enhanced resilience. Discussion is provided regarding the promotion of adaptive coping behaviors within this developmental period and the context of military family life.

  20. Interventions with family caregivers of cancer patients: meta-analysis of randomized trials.

    Science.gov (United States)

    Northouse, Laurel L; Katapodi, Maria C; Song, Lixin; Zhang, Lingling; Mood, Darlene W

    2010-01-01

    Family caregivers of cancer patients receive little preparation, information, or support to perform their caregiving role. However, their psychosocial needs must be addressed so they can maintain their own health and provide the best possible care to the patient. The purpose of this article is to analyze the types of interventions offered to family caregivers of cancer patients, and to determine the effect of these interventions on various caregiver outcomes. Meta-analysis was used to analyze data obtained from 29 randomized clinical trials published from 1983 through March 2009. Three types of interventions were offered to caregivers: psychoeducational, skills training, and therapeutic counseling. Most interventions were delivered jointly to patients and caregivers, but they varied considerably with regard to dose and duration. The majority of caregivers were female (64%) and Caucasian (84%), and ranged in age from 18 to 92 years (mean age, 55 years). Meta-analysis indicated that although these interventions had small to medium effects, they significantly reduced caregiver burden, improved caregivers' ability to cope, increased their self-efficacy, and improved aspects of their quality of life. Various intervention characteristics were also examined as potential moderators. Clinicians need to deliver research-tested interventions to help caregivers and patients cope effectively and maintain their quality of life.

  1. Analysis of membrane proteins in metagenomics: networks of correlated environmental features and protein families.

    Science.gov (United States)

    Patel, Prianka V; Gianoulis, Tara A; Bjornson, Robert D; Yip, Kevin Y; Engelman, Donald M; Gerstein, Mark B

    2010-07-01

    Recent metagenomics studies have begun to sample the genomic diversity among disparate habitats and relate this variation to features of the environment. Membrane proteins are an intuitive, but thus far overlooked, choice in this type of analysis as they directly interact with the environment, receiving signals from the outside and transporting nutrients. Using global ocean sampling (GOS) data, we found nearly approximately 900,000 membrane proteins in large-scale metagenomic sequence, approximately a fifth of which are completely novel, suggesting a large space of hitherto unexplored protein diversity. Using GPS coordinates for the GOS sites, we extracted additional environmental features via interpolation from the World Ocean Database, the National Center for Ecological Analysis and Synthesis, and empirical models of dust occurrence. This allowed us to study membrane protein variation in terms of natural features, such as phosphate and nitrate concentrations, and also in terms of human impacts, such as pollution and climate change. We show that there is widespread variation in membrane protein content across marine sites, which is correlated with changes in both oceanographic variables and human factors. Furthermore, using these data, we developed an approach, protein families and environment features network (PEN), to quantify and visualize the correlations. PEN identifies small groups of covarying environmental features and membrane protein families, which we call "bimodules." Using this approach, we find that the affinity of phosphate transporters is related to the concentration of phosphate and that the occurrence of iron transporters is connected to the amount of shipping, pollution, and iron-containing dust.

  2. Genomewide analysis of TCP transcription factor gene family in Malus domestica

    Indian Academy of Sciences (India)

    Ruirui Xu; Peng Sun; Fengjuan Jia; Longtao Lu; Yuanyuan Li; Shizhong Zhang; Jinguang Huang

    2014-12-01

    Teosinte branched1/cycloidea/proliferating cell factor1 (TCP) proteins are a large family of transcriptional regulators in angiosperms. They are involved in various biological processes, including development and plant metabolism pathways. In this study, a total of 52 TCP genes were identified in apple (Malus domestica) genome. Bioinformatic methods were employed to predicate and analyse their relevant gene classification, gene structure, chromosome location, sequence alignment and conserved domains of MdTCP proteins. Expression analysis from microarray data showed that the expression levels of 28 and 51 MdTCP genes changed during the ripening and rootstock–scion interaction processes, respectively. The expression patterns of 12 selected MdTCP genes were analysed in different tissues and in response to abiotic stresses. All of the selected genes were detected in at least one of the tissues tested, and most of them were modulated by adverse treatments indicating that the MdTCPs were involved in various developmental and physiological processes. To the best of our knowledge, this is the first study of a genomewide analysis of apple TCP gene family. These results provide valuable information for studies on functions of the TCP transcription factor genes in apple.

  3. Genetic polymorphism of MMP family and coronary disease susceptibility: a meta-analysis.

    Science.gov (United States)

    Li, Min; Shi, Jingpu; Fu, Lingyu; Wang, Hailong; Zhou, Bo; Wu, Xiaomei

    2012-03-01

    The issue that genetic polymorphism of matrix metalloproteinase (MMP) family is in association with coronary disease is controversial. So we did a meta-analysis to clarify it clearly. We made a literature search of PubMed, the Web of Science, and Cochrane Collaboration's database to identify eligible reports. The methodological quality of each included studies was assessed. We calculated the pooled ORs with their 95%CI for each genetic polymorphism in STATA 11 software. Separate analysis was performed to address the consistency of results across the subgroup with different continents. A total of 39 studies were included, with a sample of 42269 individuals. This meta-analysis provided evidence that genetic polymorphism of MMP1-1607 1G/2G, MMP3-Gly45lys, MMP3-376 G/C, MMP3-1171 5A/6A, MMP9-1562 C/T and MMP9-R279Q have a small to medium effect on incidence of coronary disease. There was no evidence that MMP1-519 A/G, MMP1-340 T/C and MMP2-1306 C/T polymorphism could increase risk of coronary disease. Results from subgroup analysis supported a relation between MMP3-1711 5A allele, MMP9-1562 C allele and coronary disease especially in Asian population. The results provide moderate association between the six common genetic polymorphism of matrix metalloproteinase family and coronary disease. However, the challenge for researcher is identifying separate effect on different races.

  4. Comparative mitogenomic analysis of damsel bugs representing three tribes in the family Nabidae (Insecta: Hemiptera.

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    Hu Li

    Full Text Available BACKGROUND: Nabidae, a family of predatory heteropterans, includes two subfamilies and five tribes. We previously reported the complete mitogenome of Alloeorhynchus bakeri, a representative of the tribe Prostemmatini in the subfamily Prostemmatinae. To gain a better understanding of architecture and evolution of mitogenome in Nabidae, mitogenomes of five species representing two tribes (Gorpini and Nabini in the subfamily Nabinae were sequenced, and a comparative mitogenomic analysis of three nabid tribes in two subfamilies was carried out. METHODOLOGY/PRINCIPAL FINDINGS: Nabid mitogenomes share a similar nucleotide composition and base bias, except for the control region, where differences are observed at the subfamily level. In addition, the pattern of codon usage is influenced by the GC content and consistent with the standard invertebrate mitochondrial genetic code and the preference for A+T-rich codons. The comparison among orthologous protein-coding genes shows that different genes have been subject to different rates of molecular evolution correlated with the GC content. The stems and anticodon loops of tRNAs are extremely conserved, and the nucleotide substitutions are largely restricted to TψC and DHU loops and extra arms, with insertion-deletion polymorphisms. Comparative analysis shows similar rates of substitution between the two rRNAs. Long non-coding regions are observed in most Gorpini and Nabini mtDNAs in-between trnI-trnQ and/or trnS2-nad1. The lone exception, Nabis apicalis, however, has lost three tRNAs. Overall, phylogenetic analysis using mitogenomic data is consistent with phylogenies constructed mainly form morphological traits. CONCLUSIONS/SIGNIFICANCE: This comparative mitogenomic analysis sheds light on the architecture and evolution of mitogenomes in the family Nabidae. Nucleotide diversity and mitogenomic traits are phylogenetically informative at subfamily level. Furthermore, inclusion of a broader range of samples

  5. A Comparative Analysis of the Costs of Substitute Care and Family Based Services. Monograph 2.

    Science.gov (United States)

    Hutchinson, Janet

    Family based services attempt to maintain and strengthen the client family and prevent family dissolution and the placement of a child or several children in substitute care. This study compared programs that serve children and their families in their home. Variances in program costs were attributed to differences in number of casework hours per…

  6. Gay Men with AIDS and Their Families of Origin: An Analysis of Social Support.

    Science.gov (United States)

    Kadushin, Goldie

    1996-01-01

    Reviews literature on relationships of gay men with AIDS and their families of origin. Some reasons for the absence of family from support networks include family's lack of acceptance of homosexuality and relationship with a male partner; stigma associated with AIDS; inability of family to communicate openly about homosexuality and AIDS. (FC)

  7. Gene family evolution: an in-depth theoretical and simulation analysis of non-linear birth-death-innovation models

    Directory of Open Access Journals (Sweden)

    Berezovskaya Faina S

    2004-09-01

    Full Text Available Abstract Background The size distribution of gene families in a broad range of genomes is well approximated by a generalized Pareto function. Evolution of ensembles of gene families can be described with Birth, Death, and Innovation Models (BDIMs. Analysis of the properties of different versions of BDIMs has the potential of revealing important features of genome evolution. Results In this work, we extend our previous analysis of stochastic BDIMs. In addition to the previously examined rational BDIMs, we introduce potentially more realistic logistic BDIMs, in which birth/death rates are limited for the largest families, and show that their properties are similar to those of models that include no such limitation. We show that the mean time required for the formation of the largest gene families detected in eukaryotic genomes is limited by the mean number of duplications per gene and does not increase indefinitely with the model degree. Instead, this time reaches a minimum value, which corresponds to a non-linear rational BDIM with the degree of approximately 2.7. Even for this BDIM, the mean time of the largest family formation is orders of magnitude greater than any realistic estimates based on the timescale of life's evolution. We employed the embedding chains technique to estimate the expected number of elementary evolutionary events (gene duplications and deletions preceding the formation of gene families of the observed size and found that the mean number of events exceeds the family size by orders of magnitude, suggesting a highly dynamic process of genome evolution. The variance of the time required for the formation of the largest families was found to be extremely large, with the coefficient of variation >> 1. This indicates that some gene families might grow much faster than the mean rate such that the minimal time required for family formation is more relevant for a realistic representation of genome evolution than the mean time. We

  8. Analysis of the Problems and Educational Needs of New Family Structures

    Directory of Open Access Journals (Sweden)

    Enrique Arranz Freijo

    2010-12-01

    Full Text Available The aim of this study is to identify the concerns and support needs of several family groups corresponding to different family structures. 214 families, matching 6 different family structures, were interviewed. The results show that families are worried about their children’s health and that educational criteria are required to deal with the child-rearing process. Single and step families are worried about the fact that their children have been through processes of conflict. Adoptive families have worry about the normal psychological development of their children and require specific training to deal with the adoption process. Gay and lesbian families are concerned about the social stigma that may fall on their children. Multiple-birth families are worried about the high level of human, educational and economic resources needed to raise their children. Results highlight the need to develop educational and preventive policies aimed at families.

  9. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

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    Manpreet Sidhu

    2012-01-01

    Full Text Available Background: Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. Aim: In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. Materials and Methods: A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under Χ100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Results: Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Conclusion: Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

  10. Aspirin inhibits glucose‑6‑phosphate dehydrogenase activity in HCT 116 cells through acetylation: Identification of aspirin-acetylated sites.

    Science.gov (United States)

    Ai, Guoqiang; Dachineni, Rakesh; Kumar, D Ramesh; Alfonso, Lloyd F; Marimuthu, Srinivasan; Bhat, G Jayarama

    2016-08-01

    Glucose-6-phosphate dehydrogenase (G6PD) catalyzes the first reaction in the pentose phosphate pathway, and generates ribose sugars, which are required for nucleic acid synthesis, and nicotinamide adenine dinucleotide phosphate (NADPH), which is important for neutralization of oxidative stress. The expression of G6PD is elevated in several types of tumor, including colon, breast and lung cancer, and has been implicated in cancer cell growth. Our previous study demonstrated that exposure of HCT 116 human colorectal cancer cells to aspirin caused acetylation of G6PD, and this was associated with a decrease in its enzyme activity. In the present study, this observation was expanded to HT‑29 colorectal cancer cells, in order to compare aspirin‑mediated acetylation of G6PD and its activity between HCT 116 and HT‑29 cells. In addition, the present study aimed to determine the acetylation targets of aspirin on recombinant G6PD to provide an insight into the mechanisms of inhibition. The results demonstrated that the extent of G6PD acetylation was significantly higher in HCT 116 cells compared with in HT‑29 cells; accordingly, a greater reduction in G6PD enzyme activity was observed in the HCT 116 cells. Mass spectrometry analysis of aspirin‑acetylated G6PD (isoform a) revealed that aspirin acetylated a total of 14 lysine residues, which were dispersed throughout the length of the G6PD protein. One of the important amino acid targets of aspirin included lysine 235 (K235, in isoform a) and this corresponds to K205 in isoform b, which has previously been identified as being important for catalysis. Acetylation of G6PD at several sites, including K235 (K205 in isoform b), may mediate inhibition of G6PD activity, which may contribute to the ability of aspirin to exert anticancer effects through decreased synthesis of ribose sugars and NADPH.

  11. Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of southwestern China

    Institute of Scientific and Technical Information of China (English)

    YANG YinFeng; ZHU YueChun; LI DanYi; LI ZhiGang; L(U) HuiRu; WU Jing; TANG Jing; TONG ShuFen

    2007-01-01

    The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31%(19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2-13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen independent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping(1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.

  12. Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of southwestern China

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.

  13. Genome-wide analysis of the Hsp20 gene family in soybean: comprehensive sequence, genomic organization and expression profile analysis under abiotic and biotic stresses

    National Research Council Canada - National Science Library

    Lopes-Caitar, Valéria S; de Carvalho, Mayra C C G; Darben, Luana M; Kuwahara, Marcia K; Nepomuceno, Alexandre L; Dias, Waldir P; Abdelnoor, Ricardo V; Marcelino-Guimarães, Francismar C

    2013-01-01

    .... Thus, in the present study an in silico identification of GmHsp20 gene family members was performed, and the genes were characterized and subjected to in vivo expression analysis under biotic and abiotic stresses...

  14. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Fardeen Ali Malayeri

    2011-03-01

    Full Text Available This study determines the value of linkage analysis using six RFLP markers for carrier detection and prenatal diagnosis in familial DMD/BMD cases and their family members for the first time in the Iranian population. We studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of DMD or BMD. Subsequently, we determined the rate of heterozygosity for six intragenic RFLP markers in the mothers of patients with dystrophin gene deletions. Finally, we studied the efficiency of linkage analysis by using RFLP markers for carrier status detection of DMD/BMD. In 63.6% of the patients we found one or more deletions. The most common heterozygous RFLP marker with 57.1% heterozygosity was pERT87.15Taq1. More than 80% of mothers in two groups of familial or non-familial cases had at least two heterozygous markers. Family linkage analysis was informative in more than 80% of the cases, allowing for accurate carrier detection. We found that linkage analysis using these six RFLP markers for carrier detection and prenatal diagnosis is a rapid, easy, reliable, and inexpensive method, suitable for most routine diagnostic services. The heterozygosity frequency of these markers is high enough in the Iranian population to allow carrier detection and prenatal diagnosis of DMD/BMD in more than 80% of familial cases in Iran.

  15. Correlation analysis for protein evolutionary family based on amino acid position mutations and application in PDZ domain.

    Directory of Open Access Journals (Sweden)

    Qi-Shi Du

    Full Text Available BACKGROUND: It has been widely recognized that the mutations at specific directions are caused by the functional constraints in protein family and the directional mutations at certain positions control the evolutionary direction of the protein family. The mutations at different positions, even distantly separated, are mutually coupled and form an evolutionary network. Finding the controlling mutative positions and the mutative network among residues are firstly important for protein rational design and enzyme engineering. METHODOLOGY: A computational approach, namely amino acid position conservation-mutation correlation analysis (CMCA, is developed to predict mutually mutative positions and find the evolutionary network in protein family. The amino acid position mutative function, which is the foundational equation of CMCA measuring the mutation of a residue at a position, is derived from the MSA (multiple structure alignment database of protein evolutionary family. Then the position conservation correlation matrix and position mutation correlation matrix is constructed from the amino acid position mutative equation. Unlike traditional SCA (statistical coupling analysis approach, which is based on the statistical analysis of position conservations, the CMCA focuses on the correlation analysis of position mutations. CONCLUSIONS: As an example the CMCA approach is used to study the PDZ domain of protein family, and the results well illustrate the distantly allosteric mechanism in PDZ protein family, and find the functional mutative network among residues. We expect that the CMCA approach may find applications in protein engineering study, and suggest new strategy to improve bioactivities and physicochemical properties of enzymes.

  16. Genome-wide comparative analysis of 20 miniature inverted-repeat transposable element families in Brassica rapa and B. oleracea.

    Directory of Open Access Journals (Sweden)

    Perumal Sampath

    Full Text Available Miniature inverted-repeat transposable elements (MITEs are ubiquitous, non-autonomous class II transposable elements. Here, we conducted genome-wide comparative analysis of 20 MITE families in B. rapa, B. oleracea, and Arabidopsis thaliana. A total of 5894 and 6026 MITE members belonging to the 20 families were found in the whole genome pseudo-chromosome sequences of B. rapa and B. oleracea, respectively. Meanwhile, only four of the 20 families, comprising 573 members, were identified in the Arabidopsis genome, indicating that most of the families were activated in the Brassica genus after divergence from Arabidopsis. Copy numbers varied from 4 to 1459 for each MITE family, and there was up to 6-fold variation between B. rapa and B. oleracea. In particular, analysis of intact members showed that whereas eleven families were present in similar copy numbers in B. rapa and B. oleracea, nine families showed copy number variation ranging from 2- to 16-fold. Four of those families (BraSto-3, BraTo-3, 4, 5 were more abundant in B. rapa, and the other five (BraSto-1, BraSto-4, BraTo-1, 7 and BraHAT-1 were more abundant in B. oleracea. Overall, 54% and 51% of the MITEs resided in or within 2 kb of a gene in the B. rapa and B. oleracea genomes, respectively. Notably, 92 MITEs were found within the CDS of annotated genes, suggesting that MITEs might play roles in diversification of genes in the recently triplicated Brassica genome. MITE insertion polymorphism (MIP analysis of 289 MITE members showed that 52% and 23% were polymorphic at the inter- and intra-species levels, respectively, indicating that there has been recent MITE activity in the Brassica genome. These recently activated MITE families with abundant MIP will provide useful resources for molecular breeding and identification of novel functional genes arising from MITE insertion.

  17. Identification and Expression Analysis of the Barley (Hordeum vulgare L. Aquaporin Gene Family.

    Directory of Open Access Journals (Sweden)

    Runyararo M Hove

    Full Text Available Aquaporins (AQPs are major intrinsic proteins (MIPs that mediate bidirectional flux of water and other substrates across cell membranes, and play critical roles in plant-water relations, dehydration stress responses and crop productivity. However, limited data are available as yet on the contributions of these proteins to the physiology of the major crop barley (Hordeum vulgare. The present work reports the identification and expression analysis of the barley MIP family. A comprehensive search of publicly available leaf mRNA-seq data, draft barley genome data, GenBank transcripts and sixteen new annotations together revealed that the barley MIP family is comprised of at least forty AQPs. Alternative splicing events were likely in two plasma membrane intrinsic protein (PIP AQPs. Analyses of the AQP signature sequences and specificity determining positions indicated a potential of several putative AQP isoforms to transport non-aqua substrates including physiological important substrates, and respond to abiotic stresses. Analysis of our publicly available leaf mRNA-seq data identified notable differential expression of HvPIP1;2 and HvTIP4;1 under salt stress. Analyses of other gene expression resources also confirmed isoform-specific responses in different tissues and/or in response to salinity, as well as some potentially inter-cultivar differences. The work reports systematic and comprehensive analysis of most, if not all, barley AQP genes, their sequences, expression patterns in different tissues, potential transport and stress response functions, and a strong framework for selection and/or development of stress tolerant barley varieties. In addition, the barley data would be highly valuable for genetic studies of the evolutionarily closely related wheat (Triticum aestivum L..

  18. Comparative analysis of genome-wide Mlo gene family in Cajanus cajan and Phaseolus vulgaris.

    Science.gov (United States)

    Deshmukh, Reena; Singh, V K; Singh, B D

    2016-04-01

    The Mlo gene was discovered in barley because the mutant 'mlo' allele conferred broad-spectrum, non-race-specific resistance to powdery mildew caused by Blumeria graminis f. sp. hordei. The Mlo genes also play important roles in growth and development of plants, and in responses to biotic and abiotic stresses. The Mlo gene family has been characterized in several crop species, but only a single legume species, soybean (Glycine max L.), has been investigated so far. The present report describes in silico identification of 18 CcMlo and 20 PvMlo genes in the important legume crops Cajanus cajan (L.) Millsp. and Phaseolus vulgaris L., respectively. In silico analysis of gene organization, protein properties and conserved domains revealed that the C. cajan and P. vulgaris Mlo gene paralogs are more divergent from each other than from their orthologous pairs. The comparative phylogenetic analysis classified CcMlo and PvMlo genes into three major clades. A comparative analysis of CcMlo and PvMlo proteins with the G. max Mlo proteins indicated close association of one CcMlo, one PvMlo with two GmMlo genes, indicating that there was no further expansion of the Mlo gene family after the separation of these species. Thus, most of the diploid species of eudicots might be expected to contain 15-20 Mlo genes. The genes CcMlo12 and 14, and PvMlo11 and 12 are predicted to participate in powdery mildew resistance. If this prediction were verified, these genes could be targeted by TILLING or CRISPR to isolate powdery mildew resistant mutants.

  19. A combined linkage and exome sequencing analysis for electrocardiogram parameters in the Erasmus Rucphen Family study

    Directory of Open Access Journals (Sweden)

    Claudia Tamar Silva

    2016-11-01

    Full Text Available Electrocardiogram (ECG measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies (GWAS of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF. Linked regions were further explored using exome sequencing. Five suggestive linkage peaks were identified: two for QT interval (1q24, LOD = 2.63; 2q34, LOD = 2.05, one for QRS interval (1p35, LOD = 2.52 and two for PR interval (9p22, LOD = 2.20; 14q11, LOD = 2.29. Fine-mapping using exome sequence data identified a C > G missense variant (c.713C>G, p.Ser238Cys in the FCRL2 gene associated with QT (rs74608430; P = 2.8 ×10-4, minor allele frequency = 0.019. Heritability analysis demonstrated that the SNP explained 2.42% of the trait’s genetic variability in ERF (P = 0.02. Pathway analysis suggested that the gene is involved in cytosolic Ca2+ levels (P = 3.3 × 10-3 and AMPK stimulated fatty acid oxidation in muscle (P = 4.1 ×10-3. Look-ups in bioinformatics resources showed that expression of FCRL2 is associated with ARHGAP24 and SETBP1 expression. This finding was not replicated in the Rotterdam study. Combining the bioinformatics information with the association and linkage analyses, FCRL2 emerges as a strong candidate gene for QT interval.

  20. Phylogenomic analysis reveals dynamic evolutionary history of the Drosophila heterochromatin protein 1 (HP1 gene family.

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    Mia T Levine

    Full Text Available Heterochromatin is the gene-poor, satellite-rich eukaryotic genome compartment that supports many essential cellular processes. The functional diversity of proteins that bind and often epigenetically define heterochromatic DNA sequence reflects the diverse functions supported by this enigmatic genome compartment. Moreover, heterogeneous signatures of selection at chromosomal proteins often mirror the heterogeneity of evolutionary forces that act on heterochromatic DNA. To identify new such surrogates for dissecting heterochromatin function and evolution, we conducted a comprehensive phylogenomic analysis of the Heterochromatin Protein 1 gene family across 40 million years of Drosophila evolution. Our study expands this gene family from 5 genes to at least 26 genes, including several uncharacterized genes in Drosophila melanogaster. The 21 newly defined HP1s introduce unprecedented structural diversity, lineage-restriction, and germline-biased expression patterns into the HP1 family. We find little evidence of positive selection at these HP1 genes in both population genetic and molecular evolution analyses. Instead, we find that dynamic evolution occurs via prolific gene gains and losses. Despite this dynamic gene turnover, the number of HP1 genes is relatively constant across species. We propose that karyotype evolution drives at least some HP1 gene turnover. For example, the loss of the male germline-restricted HP1E in the obscura group coincides with one episode of dramatic karyotypic evolution, including the gain of a neo-Y in this lineage. This expanded compendium of ovary- and testis-restricted HP1 genes revealed by our study, together with correlated gain/loss dynamics and chromosome fission/fusion events, will guide functional analyses of novel roles supported by germline chromatin.

  1. Family income trajectory during childhood is associated with adiposity in adolescence: a latent class growth analysis

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    Kendzor Darla E

    2012-08-01

    Full Text Available Abstract Background Childhood socioeconomic disadvantage has been linked with obesity in cross-sectional research, although less is known about how changes in socioeconomic status influence the development of obesity. Researchers have hypothesized that upward socioeconomic mobility may attenuate the health effects of earlier socioeconomic disadvantage; while downward socioeconomic mobility might have a negative influence on health despite relative socioeconomic advantages at earlier stages. The purpose of the current study was to characterize trajectories of family income during childhood, and to evaluate the influence of these trajectories on adiposity at age 15. Methods Data were collected as part of the Study of Early Child Care and Youth Development (SECCYD between 1991 and 2007 at 10 sites across the United States. A latent class growth analysis (LCGA was conducted to identify trajectories of family income from birth to 15 years of age. Analyses of covariance (ANCOVAs were conducted to determine whether measures of adiposity differed by trajectory, while controlling for relevant covariates. Results The LCGA supported a 5-class trajectory model, which included two stable, one downward, and two upward trajectories. ANCOVAs indicated that BMI percentile, waist circumference, and skinfold thicknesses at age 15 differed significantly by trajectory, such that those who experienced downward mobility or stable low income had greater adiposity relative to the more advantaged trajectories. Conversely, upwardly mobile children and those with consistently adequate incomes had similar and more positive outcomes relative to the most disadvantaged trajectories. Conclusions Findings suggest that promoting upward socioeconomic mobility among disadvantaged families may have a positive impact on obesity-related outcomes in adolescence.

  2. 3D finite element analysis to detect stress distribution: spiral family implants.

    Science.gov (United States)

    Danza, Matteo; Zollino, Ilaria; Paracchini, Luigi; Riccardo, Guidi; Fanali, Stefano; Carinci, Francesco

    2009-12-01

    Spiral family implants are a root-form fixtures with increasing thickness of tread. This characteristic gives a self-tapping and self-condensing bone properties to implants. To study spiral family implant inserted in different bone quality and connected with abutments of different angulations a Finite Element Analysis (FEA) was performed. Once drawn the systems that were object of the study by CAD (Computer Aided Design), the FEA discretized solids composing the system in many infinitesimal little elementary solids defined finite elements. This lead to a mesh formation where the single finite elements were connected among them by nodes. For the 3 units bone-implant-abutments several thousand of tetrahedral elements having 10 parabolic nodes were employed. The biomechanical behaviour of 4.2 mm × 13 mm dental implants, connecting screw, straight and 15° and 25° angulated abutment subjected to static loads, in contact with high and poor bone quality was evaluated by FEA. A double system was analyzed: a) FY strength acting along Y axis and having 200 N intensity; b) FY and FZ couple of strengths applied along Y and Z directions and having respectively 200N and 140N intensity. The materials were considered as homogeneous, linear and isotropic. Then the FEA simulation was performed hypothesizing a linearity between loads and deformations. The lowest stress value was found in the system composed by implants and straight abutments loaded with a vertical strength, while the highest stress value were found in implants and 15° angulated abutment loaded with a angulated strength. In addition, the lower is the bone quality (i.e. D4) the higher is the distribution of the stress within the bone. Spiral family implants can be used successfully in low bone quality but a straight force is recommended.

  3. Genome-Wide Analysis and Characterization of Aux/IAA Family Genes in Brassica rapa.

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    Parameswari Paul

    Full Text Available Auxins are the key players in plant growth development involving leaf formation, phototropism, root, fruit and embryo development. Auxin/Indole-3-Acetic Acid (Aux/IAA are early auxin response genes noted as transcriptional repressors in plant auxin signaling. However, many studies focus on Aux/ARF gene families and much less is known about the Aux/IAA gene family in Brassica rapa (B. rapa. Here we performed a comprehensive genome-wide analysis and identified 55 Aux/IAA genes in B. rapa using four conserved motifs of Aux/IAA family (PF02309. Chromosomal mapping of the B. rapa Aux/IAA (BrIAA genes facilitated understanding cluster rearrangement of the crucifer building blocks in the genome. Phylogenetic analysis of BrIAA with Arabidopsis thaliana, Oryza sativa and Zea mays identified 51 sister pairs including 15 same species (BrIAA-BrIAA and 36 cross species (BrIAA-AtIAA IAA genes. Among the 55 BrIAA genes, expression of 43 and 45 genes were verified using Genebank B. rapa ESTs and in home developed microarray data from mature leaves of Chiifu and RcBr lines. Despite their huge morphological difference, tissue specific expression analysis of BrIAA genes between the parental lines Chiifu and RcBr showed that the genes followed a similar pattern of expression during leaf development and a different pattern during bud, flower and siliqua development stages. The response of the BrIAA genes to abiotic and auxin stress at different time intervals revealed their involvement in stress response. Single Nucleotide Polymorphisms between IAA genes of reference genome Chiifu and RcBr were focused and identified. Our study examines the scope of conservation and divergence of Aux/IAA genes and their structures in B. rapa. Analyzing the expression and structural variation between two parental lines will significantly contribute to functional genomics of Brassica crops and we belive our study would provide a foundation in understanding the Aux/IAA genes in B. rapa.

  4. An Initial Comparative Analysis of the CMMI Version 1.2 Development Constellation and the ISO 9000 Family

    Science.gov (United States)

    2009-03-01

    automobile ( ISO TS 16949), chemical (RC 14001), medical devices ( ISO 13485 ), and petroleum and natural gas ( ISO /TS 29001). These individual industry...An Initial Comparative Analysis of the CMMI Version 1.2 Development Constellation and the ISO 9000 Family David H, Kitson, KAMO Consultancy...Credentials Program 10 2.9 Adoption 11 3 Overview of the ISO 9000 Family 13 3.1 Scope of Application and Purpose 13 3.2 Background 13 3.3

  5. Phase-space analysis of the cosmological 3-fluid problem: Families of attractors and repellers

    CERN Document Server

    Azreg-Aïnou, Mustapha

    2013-01-01

    We perform a phase-space analysis of the cosmological 3-fluid problem consisting of a barotropic fluid with an equation-of-state parameter $\\gamma-1$, a pressureless dark matter fluid, plus a scalar field $\\phi$ (representing dark energy) coupled to exponential potential $V=V_0\\exp{(-\\kappa\\lambda\\phi)}$. Besides the potential-kinetic-scaling solutions, which are not the unique late-time attractors whenever they exist for $\\lambda^2\\geq 3\\ga$, we derive new attractors where both dark energy and dark matter coexist and the final density is shared in a way independent of the value of $\\ga >1$. The case of a pressureless barotropic fluid ($\\ga=1$) has a one-parameter family of attractors where all components coexist. New one-parameter families of matter-dark matter saddle points and kinetic-matter repellers exist. We investigate the stability of the ten critical points by linearization and/or Lyapunov's Theorems and a variant of the theorems formulated in this paper.

  6. Spectral Analysis of EEG in Familial Alzheimer's Disease with E280A Presenilin-1 Mutation Gene

    Science.gov (United States)

    Rodriguez, Rene; Lopera, Francisco; Alvarez, Alfredo; Fernandez, Yuriem; Galan, Lidice; Quiroz, Yakeel; Bobes, Maria Antonieta

    2014-01-01

    To evaluate the hypothesis that quantitative EEG (qEEG) analysis is susceptible to detect early functional changes in familial Alzheimer's disease (AD) preclinical stages. Three groups of subjects were selected from five extended families with hereditary AD: a Probable AD group (18 subjects), an asymptomatic carrier (ACr) group (21 subjects), with the mutation but without any clinical symptoms of dementia, and a normal group of 18 healthy subjects. In order to reveal significant differences in the spectral parameter, the Mahalanobis distance (D2) was calculated between groups. To evaluate the diagnostic efficiency of this statistic D2, the ROC models were used. The ROC curve was summarized by accuracy index and standard deviation. The D2 using the parameters of the energy in the fast frequency bands shows accurate discrimination between normal and ACr groups (area ROC = 0.89) and between AD probable and ACr groups (area ROC = 0.91). This is more significant in temporal regions. Theses parameters could be affected before the onset of the disease, even when cognitive disturbance is not clinically evident. Spectral EEG parameter could be firstly used to evaluate subjects with E280A Presenilin-1 mutation without impairment in cognitive function. PMID:24551475

  7. Spectral Analysis of EEG in Familial Alzheimer's Disease with E280A Presenilin-1 Mutation Gene.

    Science.gov (United States)

    Rodriguez, Rene; Lopera, Francisco; Alvarez, Alfredo; Fernandez, Yuriem; Galan, Lidice; Quiroz, Yakeel; Bobes, Maria Antonieta

    2014-01-01

    To evaluate the hypothesis that quantitative EEG (qEEG) analysis is susceptible to detect early functional changes in familial Alzheimer's disease (AD) preclinical stages. Three groups of subjects were selected from five extended families with hereditary AD: a Probable AD group (18 subjects), an asymptomatic carrier (ACr) group (21 subjects), with the mutation but without any clinical symptoms of dementia, and a normal group of 18 healthy subjects. In order to reveal significant differences in the spectral parameter, the Mahalanobis distance (D (2)) was calculated between groups. To evaluate the diagnostic efficiency of this statistic D (2), the ROC models were used. The ROC curve was summarized by accuracy index and standard deviation. The D (2) using the parameters of the energy in the fast frequency bands shows accurate discrimination between normal and ACr groups (area ROC = 0.89) and between AD probable and ACr groups (area ROC = 0.91). This is more significant in temporal regions. Theses parameters could be affected before the onset of the disease, even when cognitive disturbance is not clinically evident. Spectral EEG parameter could be firstly used to evaluate subjects with E280A Presenilin-1 mutation without impairment in cognitive function.

  8. Peer and family influence in eating disorders: a meta-analysis.

    Science.gov (United States)

    Quiles Marcos, Y; Quiles Sebastián, M J; Pamies Aubalat, L; Botella Ausina, J; Treasure, J

    2013-05-01

    The aim of the present study was to undertake a systematic review using meta-analysis procedures to assess the relationships between eating disorders and peer and family influence and to evaluate whether gender plays a moderator role in that relationship. PsycINFO, Medline, Web of Science, EPSCO and Embase databases from 1980 to 2010 were searched in June and October 2010. Hand searching of relevant reference sections was also undertaken. It was possible to obtain 83 effect sizes from the 25 studies selected. Results showed that both peers and family influence dieting behavior, body dissatisfaction and bulimic symptoms in adolescent girls and boys. Furthermore, the analyses of the moderator variables showed that the variability of the effect sizes found was, in some cases, explained by gender, influence type and the country of the sample. These results highlight how daily social interactions can influence unhealthy eating practices in adolescent girls and boys, and suggest that weight-related issues of parents and peers can be transmitted to adolescents. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  9. Evolutionary analysis of the jacalin-related lectin family genes in 11 fishes.

    Science.gov (United States)

    Cao, Jun; Lv, Yueqing

    2016-09-01

    Jacalin-related lectins are a type of carbohydrate-binding proteins, which are distributed across a wide variety of organisms and involved in some important biological processes. The evolution of this gene family in fishes is unknown. Here, 47 putative jacalin genes in 11 fish species were identified and divided into 4 groups through phylogenetic analysis. Conserved gene organization and motif distribution existed in each group, suggesting their functional conservation. Some fishes have eleven jacalin genes, while others have only one or zero gene in their genomes, suggesting dynamic changes in the number of jacalin genes during the evolution of fishes. Intragenic recombination played a key role in the evolution of jacalin genes. Synteny analyses of jacalin genes in some fishes implied conserved and dynamic evolution characteristics of this gene family and related genome segments. Moreover, a few functional divergence sites were identified within each group pairs. Divergent expression profiles of the zebra fish jacalin genes were further investigated in different stresses. The results provided a foundation for exploring the characterization of the jacalin genes in fishes and will offer insights for additional functional studies.

  10. Genome-wide analysis of the GRAS gene family in physic nut (Jatropha curcas L.).

    Science.gov (United States)

    Wu, Z Y; Wu, P Z; Chen, Y P; Li, M R; Wu, G J; Jiang, H W

    2015-12-29

    GRAS proteins play vital roles in plant growth and development. Physic nut (Jatropha curcas L.) was found to have a total of 48 GRAS family members (JcGRAS), 15 more than those found in Arabidopsis. The JcGRAS genes were divided into 12 subfamilies or 15 ancient monophyletic lineages based on the phylogenetic analysis of GRAS proteins from both flowering and lower plants. The functions of GRAS genes in 9 subfamilies have been reported previously for several plants, while the genes in the remaining 3 subfamilies were of unknown function; we named the latter families U1 to U3. No member of U3 subfamily is present in Arabidopsis and Poaceae species according to public genome sequence data. In comparison with the number of GRAS genes in Arabidopsis, more were detected in physic nut, resulting from the retention of many ancient GRAS subfamilies and the formation of tandem repeats during evolution. No evidence of recent duplication among JcGRAS genes was observed in physic nut. Based on digital gene expression data, 21 of the 48 genes exhibited differential expression in four tissues analyzed. Two members of subfamily U3 were expressed only in buds and flowers, implying that they may play specific roles. Our results provide valuable resources for future studies on the functions of GRAS proteins in physic nut.

  11. Mutational analysis of the GLA gene in Mexican families with Fabry disease

    Indian Academy of Sciences (India)

    BIANCA ETHEL GUTIÉRREZ-AMAVIZCA; ANDREAS GAL; ROCÍO ORTÍZ-OROZCO; ULRICH ORTH; ERNESTO PRADO MONTES DE OCA; JAIME PAUL GUTIÉRREZ-AMAVIZCA; LUIS E. FIGUERA

    2017-03-01

    Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal Adeficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular endothelium. In this study, we investigated mutations in the GLA gene, which encodes α-Gal A, in Mexican families with FD. We included seven probands with FD that carried known mutations. We analysed pedigrees of the probands, and performed molecular screening in 65 relatives with the potential of carrying a GLA mutation. Five mutations (P40S, IVS4+4, G328V, R363H, R404del) were detected in seven unrelated Mexican familieswith the classic FD phenotype. Of the 65 relatives examined, 42 (64.6%) had a GLA gene mutation. In summary, among seven Mexican probands with FD, 65 relatives were at risk of carrying a known GLA mutation, and molecular screening identified 42 individuals with the mutation. Thus, our findings showed that it is important to perform molecular analysis in families with FD to detect mutations and to provide accurate diagnoses for individuals that could be affected.

  12. Comparative and Evolutionary Analysis of the Interleukin 17 Gene Family in Invertebrates.

    Directory of Open Access Journals (Sweden)

    Xian-De Huang

    Full Text Available Interleukin 17 (IL-17 is an important pro-inflammatory cytokine and plays critical roles in the immune response to pathogens and in the pathogenesis of inflammatory and autoimmune diseases. Despite its important functions, the origin and evolution of IL-17 in animal phyla have not been characterized. As determined in this study, the distribution of the IL-17 family among 10 invertebrate species and 7 vertebrate species suggests that the IL-17 gene may have originated from Nematoda but is absent from Saccoglossus kowalevskii (Hemichordata and Insecta. Moreover, the gene number, protein length and domain number of IL-17 differ widely. A comparison of IL-17-containing domains and conserved motifs indicated somewhat low amino acid sequence similarity but high conservation at the motif level, although some motifs were lost in certain species. The third disulfide bond for the cystine knot fold is formed by two cysteine residues in invertebrates, but these have been replaced by two serine residues in Chordata and vertebrates. One third of invertebrate IL-17 proteins were found to have no predicted signal peptide. Furthermore, an analysis of phylogenetic trees and exon-intron structures indicated that the IL-17 family lacks conservation and displays high divergence. These results suggest that invertebrate IL-17 proteins have undergone complex differentiation and that their members may have developed novel functions during evolution.

  13. DNA polymorphism analysis in families with recurrence of free trisomy 21

    Energy Technology Data Exchange (ETDEWEB)

    Pangalos, C.G.; Rethore, M.O.; Blois, M.C. de; Prieur, M.; Raoul, O.; Lejeune, J.; Talbot, C.C. Jr.; Lewis, J.G.; Adelsberger, P.A.; Peterson, M.B. (and others)

    1992-11-01

    The authors used DNA polymorphic markers on the long arm of human chromosome 21 in order to determine the parental and meiotic origin of the extra chromosome 21 in families with recurrent free trisomy 21. A total of 22 families were studied, 13 in which the individuals with trisomy 21 were siblings (category 1), four families in which the individuals with trisomy 21 were second-degree relatives (category 2), and five families in which the individuals with trisomy 21 were third-degree relatives, that is, their parents were siblings (category 3). In five category 1 families, parental mosaicism was detected, while in the remaining eight families, the origin of nondisjunction was maternal. In two of the four families of category 2 the nondisjunctions originated in individuals who were related. In only one of five category 3 families, the nondisjunctions originated in related individuals. These results suggest that parental mosaicism is an important etiologic factor in recurrent free trisomy 21 (5 of 22 families) and that chance alone can explain the recurrent trisomy 21 in many of the remaining families (14 of 22 families). However, in a small number of families (3 of 22), a familial predisposing factor or undetected mosaicism cannot be excluded. 34 refs., 3 figs., 1 tab.

  14. Different heating systems for single family house: Energy and economic analysis

    Directory of Open Access Journals (Sweden)

    Turanjanin Valentina M.

    2016-01-01

    Full Text Available The existing building stock energy consumption accounts for about 38% of final energy consumption in Republic of Serbia. 70% of that energy is consumed by residential sector, mostly for space heating. This research is addressed to the single family house building placed in the Belgrade city. The house has ground and first floor with total heating area of 130 m2 and pellet as space heating source. The aim of this paper is to evaluate energy and economic analysis for different heating systems. Several homeheating were compared: Option 1 (biomass combustion boiler using pellet as a fuel, Option 2 (gas combustion boiler and Option 3 (heat pump. The building performance was evaluated by TRNSYS 17 simulation code. Results show estimated savings using renewable energy sources. [Projekat Ministarstva nauke Republike Srbije, br. III42008

  15. Genome-Wide Analysis and Molecular Characterization of Heat Shock Transcription Factor Family in Glycine max

    Institute of Scientific and Technical Information of China (English)

    Eunsook Chung; Kyoung-Mi Kim; Jai-Heon Lee

    2013-01-01

    Heat shock transcription factors (Hsfs) play an essential role on the increased tolerance against heat stress by regulating the expression of heat-responsive genes.In this study,a genome-wide analysis was performed to identify all of the soybean (Glycine max) GmHsfgenes based on the latest soybean genome sequence.Chromosomal location,protein domain,motif organization,and phylogenetic relationships of 26 non-redundant GmHsf genes were analyzed compared with AtHsfs (Arabidopsis thaliana Hsfs).According to their structural features,the predicted members were divided into the previously defined classes A-C,as described for AtHsfs.Transcript levels and subcellular localization of five GmHsfs responsive to abiotic stresses were analyzed by real-time RT-PCR.These results provide a fundamental clue for understanding the complexity of the soybean GmHsfgene family and cloning the functional genes in future studies.

  16. Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

    Science.gov (United States)

    Goulielmos, G N; Fragouli, E; Aksentijevich, I; Sidiropoulos, P; Boumpas, D T; Eliopoulos, E

    2006-07-14

    Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, characterized by recurrent fever and serositis that affects mainly patients of the Mediterranean basin. The gene responsible for FMF, named MEFV, was cloned and several missense mutations were found to be responsible for the disease. Based on a recent molecular analysis of MEFV gene mutations in 43 patients from Crete aiming to correlate specific genotypes and clinical manifestations of FMF, we were prompted to construct a three-dimensional model (3-D model) of the PRYSPRY domain of pyrin. The majority of the known MEFV mutations located on this domain have been classified, according to disease severity, and localized on this 3-D model. The functional consequences of these mutations and their implications on disease severity are discussed. Moreover, we report a putative novel missense mutation, S702C, which we identified in exon 10 of the MEFV gene and localized on the constructed 3-D model.

  17. Genome-Wide Identification, Characterization and Expression Analysis of the TCP Gene Family in Prunus mume.

    Science.gov (United States)

    Zhou, Yuzhen; Xu, Zongda; Zhao, Kai; Yang, Weiru; Cheng, Tangren; Wang, Jia; Zhang, Qixiang

    2016-01-01

    TCP proteins, belonging to a plant-specific transcription factors family, are known to have great functions in plant development, especially flower and leaf development. However, there is little information about this gene family in Prunus mume, which is widely cultivated in China as an ornamental and fruit tree. Here a genome-wide analysis of TCP genes was performed to explore their evolution in P. mume. Nineteen PmTCPs were identified and three of them contained putative miR319 target sites. Phylogenetic and comprehensive bioinformatics analyses of these genes revealed that different types of TCP genes had undergone different evolutionary processes and the genes in the same clade had similar chromosomal location, gene structure, and conserved domains. Expression analysis of these PmTCPs indicated that there were diverse expression patterns among different clades. Most TCP genes were predominantly expressed in flower, leaf, and stem, and showed high expression levels in the different stages of flower bud differentiation, especially in petal formation stage and gametophyte development. Genes in TCP-P subfamily had main roles in both flower development and gametophyte development. The CIN genes in double petal cultivars might have key roles in the formation of petal, while they were correlated with gametophyte development in the single petal cultivar. The CYC/TB1 type genes were highly detected in the formation of petal and pistil. The less-complex flower types of P. mume might result from the fact that there were only two CYC type genes present in P. mume and a lack of CYC2 genes to control the identity of flower types. These results lay the foundation for further study on the functions of TCP genes during flower development.

  18. Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

    Science.gov (United States)

    Merello, Elisa; De Marco, Patrizia; Ravegnani, Marcello; Riccipetitoni, Giovanna; Cama, Armando; Capra, Valeria

    2013-12-01

    Currarino Syndrome (CS) is a rare congenital malformation characterized by three major clinical aspects: sacral anomalies, anorectal malformation and presacral mass. In familial settings the disorder is transmitted as autosomal dominant trait, with a wide phenotype variability and low penetrance. The causative gene of CS is the motor neuron and pancreas homeobox-1 (MNX1), mapped at 7q36, and coding for a transcription factor. Mutations in the MNX1 have been implicated in almost all familial but only in 30% of sporadic cases. In our cohort of 28 CS cases, 8 were familiar, 18 were sporadic and 2 were not determined cases. We performed mutational analysis of MNX1 in all cases by DNA sequencing as well as by Multiplex Ligation-dependent Probe Amplification (MLPA) in those CS cases where no MNX1 mutations were found, to exclude a MNX1 heterozygous loss. We identified 10 novel and 4 recurrent mutations. Among the novel mutations, 2 were frameshift variants (p.Ser4IlefsX52, p.Phe248SerfsX35), 6 were missense variants (p.Pro27Leu, p.Gly103Arg, p.Leu254Pro, p.Leu278Pro, p.Glu282Lys, p.Arg292Gly), one was a non-sense variant (p.Lys297X), and the last one was a synonymous variant (p.Gln290Gln). Mutated patients showed a variability of phenotypes but all share at least the association of sacral agenesis and presacral mass, and this co-occurrence can constitute a pathognomonic sign to perform MNX1 analysis. Genetic heterogeneity could be a possible explanation for some of the sporadic not mutated patients even if a mis-diagnosis could not be excluded. Finally, we provide an up-date of the more recent literature, reporting a total number of 82 MNX1-CS related mutations.

  19. Genome-Wide Identification, Characterization and Expression Analysis of the TCP Gene Family in Prunus mume

    Science.gov (United States)

    Zhou, Yuzhen; Xu, Zongda; Zhao, Kai; Yang, Weiru; Cheng, Tangren; Wang, Jia; Zhang, Qixiang

    2016-01-01

    TCP proteins, belonging to a plant-specific transcription factors family, are known to have great functions in plant development, especially flower and leaf development. However, there is little information about this gene family in Prunus mume, which is widely cultivated in China as an ornamental and fruit tree. Here a genome-wide analysis of TCP genes was performed to explore their evolution in P. mume. Nineteen PmTCPs were identified and three of them contained putative miR319 target sites. Phylogenetic and comprehensive bioinformatics analyses of these genes revealed that different types of TCP genes had undergone different evolutionary processes and the genes in the same clade had similar chromosomal location, gene structure, and conserved domains. Expression analysis of these PmTCPs indicated that there were diverse expression patterns among different clades. Most TCP genes were predominantly expressed in flower, leaf, and stem, and showed high expression levels in the different stages of flower bud differentiation, especially in petal formation stage and gametophyte development. Genes in TCP-P subfamily had main roles in both flower development and gametophyte development. The CIN genes in double petal cultivars might have key roles in the formation of petal, while they were correlated with gametophyte development in the single petal cultivar. The CYC/TB1 type genes were highly detected in the formation of petal and pistil. The less-complex flower types of P. mume might result from the fact that there were only two CYC type genes present in P. mume and a lack of CYC2 genes to control the identity of flower types. These results lay the foundation for further study on the functions of TCP genes during flower development. PMID:27630648

  20. Genome-Wide Analysis of WOX Gene Family in Rice,Sorghum,Maize,Arabidopsis and Poplar

    Institute of Scientific and Technical Information of China (English)

    Xin Zhang; Jie Zong; Jianhua Liu; Jinyuan Yin; Dabing Zhang

    2010-01-01

    WUSCHEL-related homeobox(WOX)genes form a large gene family specifically expressed in plants.They are known to play important roles in regulating the development of plant tissues and organs by determining cell fate.Recent available whole genome sequences allow us to do more comprehensive phylogenetic analysis of the WOX genes in plants.In the present study,we identified 11 and 21 WOXs from sorghum(Sorghum bicolor)and maize(Zea mays),respectively.The 72 WOX genes from rice(Oryza sativa),sorghum,maize,Arabidopsis(Arabidopsis thaliana)and poplar(Populus trichocarpa)were grouped into three well supported clades with nine subgroups according to the amino acid sequences of their homodomains.Their phylogenetic relationship was also supported by the observation of the motifs outside the homodomain.We observed the variation of duplication events among the nine sub-groups between monocots and eudicots,for instance,more gene duplication events of WOXs within subgroup A for monocots,while,less for dicots in this subgroup.Furthermore,we observed the conserved intron/exon structural patterns of WOX genes in rice,sorghum and Arabidopsis.In addition,WUS(Wuschel)-box and EAR(the ERF-associated amphiphilic repression)-like motif were observed to be conserved among several WOX subgroups in these five plants.Comparative analysis of expression patterns of WOX genes in rice and Arabidopsis suggest that the WOX genes play conserved and various roles in plants.This work provides insights into the evolution of the WOX gene family and is useful for future research.

  1. Who Would Do That? A Theory-Based Analysis of Narratives of Sources of Family Ostracism.

    Science.gov (United States)

    Poulsen, Joan R; Carmon, Anna F

    2015-01-01

    There are many benefits derived from families, but not all family members are loving and accepting. Family members may act as sources of ostracism (people or groups who ostracize another person/group). We suggest sources engage in family ostracism for extended periods, their motives fit with prior theoretical models, and trait-level forgiveness may help understand source behavior. We analyzed data from 63 narratives and questionnaires to investigate the motives, power dynamics, and psychological correlates of sources of family ostracism. We found sources of ostracism are often of equal status to the targets of ostracism, and termination often occurs informally or is prompted by major changes in the family (e.g., birth, move). Also, sources of ostracism are often targets themselves suggesting family ostracism may be reciprocal in nature. Our findings support existing theory, but suggest ostracism in families has unique dynamics not captured in laboratory designs.

  2. Symmetry analysis of the behavior of the family R6M23 compounds upon hydrogenation

    Science.gov (United States)

    Kuna, Agnieszka; Sikora, Wiesława

    2011-06-01

    Symmetry analysis was applied in this work to discuss the behavior of the family R6M23 compounds upon hydrogenation (deuteration), where different structural transformations and magnetic properties, depending on the type of R and M atoms and hydrogen (deuterium) concentrations, have been found. The crystallographic structure of these compounds is described by the Fm3m space group and contain 116 atoms per unit cell occupying the positions 24e(R), 4b, 24d, 32f1 and 32f2(M). Additionally in the elementary cell, there could be up to 100 atoms of hydrogen (or deuterium) occupying the interstitial positions 4a, 32f3, 96j1 and 96k1. The symmetry analysis in the frame of the theory of space groups and their representation gives the opportunity to find all possible transformations from high symmetry parent structure to the structures with symmetry belonging to one of its subgroups. For a given transformation it indicates possible displacements of atoms from initial positions in the parent structure, ordering of hydrogen over interstitial sites and also ordering of magnetic moments, described by the smallest possible number of free parameters. The analysis was carried out by means of the MODY computer program for vectors k = (0; 0; 0) and k = (0; 0; 1) describing the changes of translational symmetry and all positions occupied by the R, M and D atoms.

  3. Screw-System-Based Mobility Analysis of a Family of Fully Translational Parallel Manipulators

    Directory of Open Access Journals (Sweden)

    Ernesto Rodriguez-Leal

    2013-01-01

    Full Text Available This paper investigates the mobility of a family of fully translational parallel manipulators based on screw system analysis by identifying the common constraint and redundant constraints, providing a case study of this approach. The paper presents the branch motion-screws for the 3-RP̲C-Y parallel manipulator, the 3-RCC-Y (or 3-RP̲RC-Y parallel manipulator, and a newly proposed 3-RP̲C-T parallel manipulator. Then the paper determines the sets of platform constraint-screws for each of these three manipulators. The constraints exerted on the platforms of the 3-RP̲C architectures and the 3-RCC-Y manipulators are analyzed using the screw system approach and have been identified as couples. A similarity has been identified with the axes of couples: they are perpendicular to the R joint axes, but in the former the axes are coplanar with the base and in the latter the axes are perpendicular to the limb. The remaining couples act about the axis that is normal to the base. The motion-screw system and constraint-screw system analysis leads to the insightful understanding of the mobility of the platform that is then obtained by determining the reciprocal screws to the platform constraint screw sets, resulting in three independent instantaneous translational degrees-of-freedom. To validate the mobility analysis of the three parallel manipulators, the paper includes motion simulations which use a commercially available kinematics software.

  4. Analysis and expression of the alpha-expansin and beta-expansin gene families in maize

    Science.gov (United States)

    Wu, Y.; Meeley, R. B.; Cosgrove, D. J.

    2001-01-01

    Expansins comprise a multigene family of proteins in maize (Zea mays). We isolated and characterized 13 different maize expansin cDNAs, five of which are alpha-expansins and eight of which are beta-expansins. This paper presents an analysis of these 13 expansins, as well as an expression analysis by northern blotting with materials from young and mature maize plants. Some expansins were expressed in restricted regions, such as the beta-expansins ExpB1 (specifically expressed in maize pollen) and ExpB4 (expressed principally in young husks). Other expansins such as alpha-expansin Exp1 and beta-expansin ExpB2 were expressed in several organs. The expression of yet a third group was not detected in the selected organs and tissues. An analysis of expansin sequences from the maize expressed sequence tag collection is also presented. Our results indicate that expansin genes may have general, overlapping expression in some instances, whereas in other cases the expression may be highly specific and limited to a single organ or cell type. In contrast to the situation in Arabidopsis, beta-expansins in maize seem to be more numerous and more highly expressed than are alpha-expansins. The results support the concept that beta-expansins multiplied and evolved special functions in the grasses.

  5. Enterprise-level bargaining and labour productivity of Italian family firms: a quantile regression analysis

    OpenAIRE

    Damiani, Mirella; Pompei, Fabrizio; Ricci, Andrea

    2014-01-01

    We investigate the role of Italian firms to evaluate their role on labour productivity performance. We find that family owned firms are less efficient than their no-family counterparts and also that family management negatively affects labour productivity. Furthermore, we estimate the role of firm level bargaining to verify whether family controlled firms, adopting these types of agreements, may partially close their efficiency gap with respect to their competitors. We find that enterprises u...

  6. Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

    Science.gov (United States)

    Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

    2011-01-01

    Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female nurses…

  7. Gender Role Perceptions of Mormon Women from Divorced Families: An Adult-Developmental Analysis

    Science.gov (United States)

    Lafkas, Sara McPhee

    2012-01-01

    More American families now have shifting family forms and gender role practices, but some religious faiths still subscribe to traditional family and gender roles. Following these ideals in modern society can challenge adherents. This qualitative study examined one such faith, considering the perceptions of Mormon (i.e., Latter-day Saint) women…

  8. The Distinction of 'Psychosomatogenic Family Types' Based on Parents' Self Reported Questionnaire Information : A Cluster Analysis

    NARCIS (Netherlands)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    2014-01-01

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of 12-y

  9. Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

    Science.gov (United States)

    Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

    2011-01-01

    Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female…

  10. New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes

    DEFF Research Database (Denmark)

    Parker, Brian John; Moltke, Ida; Roth, Adam Anders Edvin

    2011-01-01

    -coding regions comprising 725 individual structures, including 48 families with known structural RNA elements. Known families identified include both noncoding RNAs, e.g., miRNAs and the recently identified MALAT1/MEN β lincRNA family; and cis-regulatory structures, e.g., iron-responsive elements. We also...

  11. Gender Role Perceptions of Mormon Women from Divorced Families: An Adult-Developmental Analysis

    Science.gov (United States)

    Lafkas, Sara McPhee

    2012-01-01

    More American families now have shifting family forms and gender role practices, but some religious faiths still subscribe to traditional family and gender roles. Following these ideals in modern society can challenge adherents. This qualitative study examined one such faith, considering the perceptions of Mormon (i.e., Latter-day Saint) women…

  12. The Distinction of 'Psychosomatogenic Family Types' Based on Parents' Self Reported Questionnaire Information : A Cluster Analysis

    NARCIS (Netherlands)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of

  13. Systematic identification and evolutionary analysis of catalytically versatile cytochrome p450 monooxygenase families enriched in model basidiomycete fungi.

    Directory of Open Access Journals (Sweden)

    Khajamohiddin Syed

    Full Text Available Genome sequencing of basidiomycetes, a group of fungi capable of degrading/mineralizing plant material, revealed the presence of numerous cytochrome P450 monooxygenases (P450s in their genomes, with some exceptions. Considering the large repertoire of P450s found in fungi, it is difficult to identify P450s that play an important role in fungal metabolism and the adaptation of fungi to diverse ecological niches. In this study, we followed Sir Charles Darwin's theory of natural selection to identify such P450s in model basidiomycete fungi showing a preference for different types of plant components degradation. Any P450 family comprising a large number of member P450s compared to other P450 families indicates its natural selection over other P450 families by its important role in fungal physiology. Genome-wide comparative P450 analysis in the basidiomycete species, Phanerochaete chrysosporium, Phanerochaete carnosa, Agaricus bisporus, Postia placenta, Ganoderma sp. and Serpula lacrymans, revealed enrichment of 11 P450 families (out of 68 P450 families, CYP63, CYP512, CYP5035, CYP5037, CYP5136, CYP5141, CYP5144, CYP5146, CYP5150, CYP5348 and CYP5359. Phylogenetic analysis of the P450 family showed species-specific alignment of P450s across the P450 families with the exception of P450s of Phanerochaete chrysosporium and Phanerochaete carnosa, suggesting paralogous evolution of P450s in model basidiomycetes. P450 gene-structure analysis revealed high conservation in the size of exons and the location of introns. P450s with the same gene structure were found tandemly arranged in the genomes of selected fungi. This clearly suggests that extensive gene duplications, particularly tandem gene duplications, led to the enrichment of selective P450 families in basidiomycetes. Functional analysis and gene expression profiling data suggest that members of the P450 families are catalytically versatile and possibly involved in fungal colonization of plant

  14. A comparative genome analysis of PME and PMEI families reveals the evolution of pectin metabolism in plant cell walls.

    Science.gov (United States)

    Wang, Maojun; Yuan, Daojun; Gao, Wenhui; Li, Yang; Tan, Jiafu; Zhang, Xianlong

    2013-01-01

    Pectins are fundamental polysaccharides in the plant primary cell wall. Pectins are synthesized and secreted to cell walls as highly methyl-esterified polymers and then demethyl-esterified by pectin methylesterases (PMEs), which are spatially regulated by pectin methylesterase inhibitors (PMEIs). Although PME and PMEI genes are pivotal in plant cell wall formation, few studies have focused on the evolutionary patterns of the PME and PMEI gene families. In this study, the gene origin, evolution, and expression diversity of these two families were systematically analyzed using 11 representative species, including algae, bryophytes, lycophytes and flowering land plants. The results show that 1) for the two subfamilies (PME and proPME) of PME, the origin of the PME subfamily is consistent with the appearance of pectins in early charophyte cell walls, 2) Whole genome duplication (WGD) and tandem duplication contribute to the expansion of proPME and PMEI families in land plants, 3) Evidence of selection pressure shows that the proPME and PMEI families have rapidly evolved, particularly the PMEI family in vascular plants, and 4) Comparative expression profile analysis of the two families indicates that the eudicot Arabidopsis and monocot rice have different expression patterns. In addition, the gene structure and sequence analyses show that the origin of the PMEI domain may be derived from the neofunctionalization of the pro domain after WGD. This study will advance the evolutionary understanding of the PME and PMEI families and plant cell wall development.

  15. The rice B-box zinc finger gene family: genomic identification, characterization, expression profiling and diurnal analysis.

    Directory of Open Access Journals (Sweden)

    Jianyan Huang

    Full Text Available BACKGROUND: The B-box (BBX -containing proteins are a class of zinc finger proteins that contain one or two B-box domains and play important roles in plant growth and development. The Arabidopsis BBX gene family has recently been re-identified and renamed. However, there has not been a genome-wide survey of the rice BBX (OsBBX gene family until now. METHODOLOGY/PRINCIPAL FINDINGS: In this study, we identified 30 rice BBX genes through a comprehensive bioinformatics analysis. Each gene was assigned a uniform nomenclature. We described the chromosome localizations, gene structures, protein domains, phylogenetic relationship, whole life-cycle expression profile and diurnal expression patterns of the OsBBX family members. Based on the phylogeny and domain constitution, the OsBBX gene family was classified into five subfamilies. The gene duplication analysis revealed that only chromosomal segmental duplication contributed to the expansion of the OsBBX gene family. The expression profile of the OsBBX genes was analyzed by Affymetrix GeneChip microarrays throughout the entire life-cycle of rice cultivar Zhenshan 97 (ZS97. In addition, microarray analysis was performed to obtain the expression patterns of these genes under light/dark conditions and after three phytohormone treatments. This analysis revealed that the expression patterns of the OsBBX genes could be classified into eight groups. Eight genes were regulated under the light/dark treatments, and eleven genes showed differential expression under at least one phytohormone treatment. Moreover, we verified the diurnal expression of the OsBBX genes using the data obtained from the Diurnal Project and qPCR analysis, and the results indicated that many of these genes had a diurnal expression pattern. CONCLUSIONS/SIGNIFICANCE: The combination of the genome-wide identification and the expression and diurnal analysis of the OsBBX gene family should facilitate additional functional studies of the Os

  16. Family-Based Interventions in Preventing Children and Adolescents from Using Tobacco: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Thomas, Roger E; Baker, Philip R A; Thomas, Bennett C

    2016-07-01

    Tobacco is the main preventable cause of death and disease worldwide. Adolescent smoking is increasing in many countries with poorer countries following the earlier experiences of affluent countries. Preventing adolescents from starting smoking is crucial to decreasing tobacco-related illness. To assess effectiveness of family-based interventions alone and combined with school-based interventions to prevent children and adolescents from initiating tobacco use. Fourteen bibliographic databases and the Internet, journals hand-searched, and experts consulted. Randomized controlled trials (RCTs) with children or adolescents and families, interventions to prevent starting tobacco use, and follow-up ≥6 months. Abstracts/titles independently assessed and data independently entered by 2 authors. Risk of bias was assessed with the Cochrane Risk-of-Bias tool. Twenty-seven RCTs were included. Nine trials of never-smokers compared with a control provided data for meta-analysis. Family intervention trials had significantly fewer students who started smoking. Meta-analysis of 2 RCTs of combined family and school interventions compared with school only, showed additional significant benefit. The common feature of effective high-intensity interventions was encouraging authoritative parenting. Only 14 RCTs provided data for meta-analysis (approximately a third of participants). Of the 13 RCTs that did not provide data for meta-analysis 8 compared a family intervention with no intervention and 1 reported significant effects, and 5 compared a family combined with school intervention with a school intervention only and none reported additional significant effects. There is moderate-quality evidence that family-based interventions prevent children and adolescents from starting to smoke. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  17. A Content Analysis of Quantitative Research in Journal of Marital and Family Therapy: A 10-Year Review.

    Science.gov (United States)

    Parker, Elizabeth O; Chang, Jennifer; Thomas, Volker

    2016-01-01

    We examined the trends of quantitative research over the past 10 years in the Journal of Marital and Family Therapy (JMFT). Specifically, within the JMFT, we investigated the types and trends of research design and statistical analysis within the quantitative research that was published in JMFT from 2005 to 2014. We found that while the amount of peer-reviewed articles have increased over time, the percentage of quantitative research has remained constant. We discussed the types and trends of statistical analysis and the implications for clinical work and training programs in the field of marriage and family therapy.

  18. A Brief Analysis on the Differences of Family Concepts in The Wedding Banquet under Individualism and Collectivism

    Institute of Scientific and Technical Information of China (English)

    冯娅萍

    2016-01-01

    Intercultural communication is becoming more and more significant nowadays, in which family culture plays an important part, so it is of great value to explore the discrepancies of family concepts to lessen the misunderstanding and prejudice between Chinese and Western cultures. What is more, in the process of the communication between China and West, an issue we can't ignore is the differences between Chinese and Western culture. Cultural differences greatly hamper cultural exchanges bringing people tremendous inconveniences. Therefore, the paper is designed to discuss the different family concepts between China and America based on the movie The Wedding Banquet in terms of individualism and collectivism, through an analysis of how family concepts differ in this film and how these influence the communication.

  19. Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan

    Directory of Open Access Journals (Sweden)

    Saúl Gómez-Manzo

    2016-05-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. In order to understand the effect of the mutations in G6PD gene function and its relation with G6PD deficiency severity, we report the construction, cloning and expression as well as the detailed kinetic and stability characterization of three purified clinical variants of G6PD that present in the Mexican population: G6PD Zacatecas (Class I, Vanua-Lava (Class II and Viangchan (Class II. For all the G6PD mutants, we obtained low purification yield and altered kinetic parameters compared with Wild Type (WT. Our results show that the mutations, regardless of the distance from the active site where they are located, affect the catalytic properties and structural parameters and that these changes could be associated with the clinical presentation of the deficiency. Specifically, the structural characterization of the G6PD Zacatecas mutant suggests that the R257L mutation have a strong effect on the global stability of G6PD favoring an unstable active site. Using computational analysis, we offer a molecular explanation of the effects of these mutations on the active site.

  20. Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan

    Science.gov (United States)

    Gómez-Manzo, Saúl; Marcial-Quino, Jaime; Vanoye-Carlo, America; Serrano-Posada, Hugo; González-Valdez, Abigail; Martínez-Rosas, Víctor; Hernández-Ochoa, Beatriz; Sierra-Palacios, Edgar; Castillo-Rodríguez, Rosa Angélica; Cuevas-Cruz, Miguel; Rodríguez-Bustamante, Eduardo; Arreguin-Espinosa, Roberto

    2016-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. In order to understand the effect of the mutations in G6PD gene function and its relation with G6PD deficiency severity, we report the construction, cloning and expression as well as the detailed kinetic and stability characterization of three purified clinical variants of G6PD that present in the Mexican population: G6PD Zacatecas (Class I), Vanua-Lava (Class II) and Viangchan (Class II). For all the G6PD mutants, we obtained low purification yield and altered kinetic parameters compared with Wild Type (WT). Our results show that the mutations, regardless of the distance from the active site where they are located, affect the catalytic properties and structural parameters and that these changes could be associated with the clinical presentation of the deficiency. Specifically, the structural characterization of the G6PD Zacatecas mutant suggests that the R257L mutation have a strong effect on the global stability of G6PD favoring an unstable active site. Using computational analysis, we offer a molecular explanation of the effects of these mutations on the active site. PMID:27213370

  1. Genome-wide identification and analysis of the MADS-box gene family in sesame.

    Science.gov (United States)

    Wei, Xin; Wang, Linhai; Yu, Jingyin; Zhang, Yanxin; Li, Donghua; Zhang, Xiurong

    2015-09-10

    MADS-box genes encode transcription factors that play crucial roles in plant growth and development. Sesame (Sesamum indicum L.) is an oil crop that contributes to the daily oil and protein requirements of almost half of the world's population; therefore, a genome-wide analysis of the MADS-box gene family is needed. Fifty-seven MADS-box genes were identified from 14 linkage groups of the sesame genome. Analysis of phylogenetic relationships with Arabidopsis thaliana, Utricularia gibba and Solanum lycopersicum MADS-box genes was performed. Sesame MADS-box genes were clustered into four groups: 28 MIKC(c)-type, 5 MIKC(⁎)-type, 14 Mα-type and 10 Mγ-type. Gene structure analysis revealed from 1 to 22 exons of sesame MADS-box genes. The number of exons in type II MADS-box genes greatly exceeded the number in type I genes. Motif distribution analysis of sesame MADS-box genes also indicated that type II MADS-box genes contained more motifs than type I genes. These results suggested that type II sesame MADS-box genes had more complex structures. By analyzing expression profiles of MADS-box genes in seven sesame transcriptomes, we determined that MIKC(C)-type MADS-box genes played significant roles in sesame flower and seed development. Although most MADS-box genes in the same clade showed similar expression features, some gene functions were diversified from the orthologous Arabidopsis genes. This research will contribute to uncovering the role of MADS-box genes in sesame development. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Expression and functional analysis of the CorA-MRS2-ALR-type magnesium transporter family in rice.

    Science.gov (United States)

    Saito, Takayuki; Kobayashi, Natsuko I; Tanoi, Keitaro; Iwata, Naoko; Suzuki, Hisashi; Iwata, Ren; Nakanishi, Tomoko M

    2013-10-01

    Maintenance of an appropriate magnesium ion (Mg(2+)) concentration is essential for plant growth. In Arabidopsis thaliana, the CorA-MRS2-ALR-type proteins, named MRS2/MGT family proteins, are reportedly localized in various membranes and they function in Mg transport. However, knowledge of this family in other plant species is extremely limited. Furthermore, differential diversification among dicot and monocot plants suggested by phylogenetic analysis indicates that the role of the Arabidopsis MRS2/MGT family proteins is not the same in monocot plants. For a further understanding of this family in higher plants, functional analysis and gene expression profiling of rice MRS2/MGT family members were performed. A phylogenetic tree based on the isolated mRNA sequences of nine members of the OsMRS2 family confirmed that the MRS2/MGT family consists of five clades (A-E). A complementation assay in the yeast CM66 strain showed that four of the nine members possessed the Mg(2+) transport ability. Transient green fluorescent protein (GFP) expression in the isolated rice protoplast indicated that OsMRS2-5 and OsMRS2-6, belonging to clades D and A, respectively, localized in the chloroplast. Expression levels of these genes were low in the unexpanded yellow-green leaf, but increased considerably with leaf maturation. In addition, diurnal oscillation of expression was observed, particularly in OsMRS2-6 expression in the expanded leaf blade. We conclude that OsMRS2 family members function as Mg transporters and suggest that the genes belonging to clade A encode the chloroplast-localized Mg(2+) transporter in plants.

  3. Perspectives about Family Meals from Single-Headed and Dual-Headed Households: A Qualitative Analysis

    Science.gov (United States)

    Berge, Jerica M.; Hoppmann, Caroline; Hanson, Carrie; Neumark-Sztainer, Dianne

    2013-01-01

    Cross-sectional and longitudinal research has shown that family meals are protective for adolescent healthful eating behaviors. However, little is known about what parents think of these findings and whether parents from single- versus dual-headed households have differing perspectives about the findings. Additionally, parents’ perspectives regarding barriers to applying the findings on family meals in their own homes and suggestions for more wide-spread adoption of the findings are unknown. The current study aimed to identify single- and dual-headed household parents’ perspectives regarding the research findings on family meals, barriers to applying the findings in their own homes and suggestions for helping families have more family meals. The current qualitative study included 59 parents who participated in sub-study of two linked multi-level studies—EAT 2010 (Eating and Activity in Teens) and Families and Eating and Activity in Teens (F-EAT). Parents (91.5% female) were racially/ethnically and socio-economically diverse. Data were analyzed using a grounded theory approach. Results from the current study suggest that parents from both single- and dual-headed households have similar perspectives regarding why family meals are protective for healthful eating habits for adolescents (e.g., provides structure/routine, opportunities for communication, connection), but provide similar and different reasons for barriers to family meals (e.g., single-headed=cost vs. dual-headed=lack of creativity) and ideas and suggestions for how to increase the frequency of family meals (e.g., single-headed=give fewer options vs. dual-headed=include children in the meal preparation). Findings may help inform public health intervention researchers and providers who work with adolescents and their families to understand how to approach discussions regarding reasons for having family meals, barriers to carrying out family meals and ways to increase family meals depending on family

  4. Perspectives about family meals from single-headed and dual-headed households: a qualitative analysis.

    Science.gov (United States)

    Berge, Jerica M; Hoppmann, Caroline; Hanson, Carrie; Neumark-Sztainer, Dianne

    2013-12-01

    Cross-sectional and longitudinal research has shown that family meals are protective for adolescent healthful eating behaviors. However, little is known about what parents think of these findings and whether parents from single- vs dual-headed households have differing perspectives about the findings. In addition, parents' perspectives regarding barriers to applying the findings on family meals in their own homes and suggestions for more widespread adoption of the findings are unknown. The current study aimed to identify single- and dual-headed household parents' perspectives regarding the research findings on family meals, barriers to applying the findings in their own homes, and suggestions for helping families have more family meals. The current qualitative study included 59 parents who participated in substudy of two linked multilevel studies-EAT 2010 (Eating and Activity in Teens) and Families and Eating and Activity in Teens (F-EAT). Parents (91.5% female) were racially/ethnically and socioeconomically diverse. Data were analyzed using a grounded theory approach. Results from the current study suggest that parents from both single- and dual-headed households have similar perspectives regarding why family meals are protective for healthful eating habits for adolescents (eg, provides structure/routine, opportunities for communication, connection), but provide similar and different reasons for barriers to family meals (eg, single-headed=cost vs dual-headed=lack of creativity) and ideas and suggestions for how to increase the frequency of family meals (eg, single-headed=give fewer options vs dual-headed=include children in the meal preparation). Findings can help inform public health intervention researchers and providers who work with adolescents and their families to understand how to approach discussions regarding reasons for having family meals, barriers to carrying out family meals, and ways to increase family meals depending on family structure.

  5. Identification and analysis of the germin-like gene family in soybean

    Directory of Open Access Journals (Sweden)

    Wang Xiang-Jing

    2010-11-01

    Full Text Available Abstract Background Germin and germin-like proteins constitute a ubiquitous family of plant proteins. A role of some family members in defense against pathogen attack had been proposed based on gene regulation studies and transgenic approaches. Soybean (G. max L. Merr. germin genes had not been characterized at the molecular and functional levels. Results In the present study, twenty-one germin gene members in soybean cultivar 'Maple Arrow' (partial resistance to Sclerotinia stem rot of soybean were identified by in silico identification and RACE method (GmGER 1 to GmGER 21. A genome-wide analyses of these germin-like protein genes using a bioinformatics approach showed that the genes located on chromosomes 8, 1, 15, 20, 16, 19, 7, 3 and 10, on which more disease-resistant genes were located on. Sequence comparison revealed that the genes encoded three germin-like domains. The phylogenetic relationships and functional diversity of the germin gene family of soybean were analyzed among diverse genera. The expression of the GmGER genes treated with exogenous IAA suggested that GmGER genes might be regulated by auxin. Transgenic tobacco that expressed the GmGER 9 gene exhibited high tolerance to the salt stress. In addition, the GmGER mRNA increased transiently at darkness and peaked at a time that corresponded approximately to the critical night length. The mRNA did not accumulate significantly under the constant light condition, and did not change greatly under the SD and LD treatments. Conclusions This study provides a complex overview of the GmGER genes in soybean. Phylogenetic analysis suggested that the germin and germin-like genes of the plant species that had been founded might be evolved by independent gene duplication events. The experiment indicated that germin genes exhibited diverse expression patterns during soybean development. The different time courses of the mRNAs accumulation of GmGER genes in soybean leaves appeared to have a

  6. Diabetes complications in youth: qualitative analysis of parents' perspectives of family learning and knowledge.

    Science.gov (United States)

    Buckloh, Lisa M; Lochrie, Amanda S; Antal, Holly; Milkes, Amy; Canas, J Atilio; Hutchinson, Sally; Wysocki, Tim

    2008-08-01

    Youth with type 1 diabetes face long-term risks of health complications of the disease. Little is known about patients' and parents' knowledge, acquisition of information, and family communication regarding these complications. This paper reports qualitative analyses of parental focus-group discussions of this topic. A total of 47 participants (30