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Sample records for family g6pd analysis

  1. Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD deficiency of a Javanese Chinese family in Indonesia

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    IDG Ugrasena

    2017-02-01

    Full Text Available The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of  MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T, corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T, corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation.

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

    Science.gov (United States)

    Slesak, Günther; Douangdala, Phouvieng; Inthalad, Saythong; Silisouk, Joy; Vongsouvath, Manivanh; Sengduangphachanh, Amphonesavanh; Moore, Catrin E; Mayxay, Mayfong; Matsuoka, Hiroyuki; Newton, Paul N

    2009-07-29

    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. 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. 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.

  4. Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study.

    Science.gov (United States)

    Moosazadeh, Mahmood; Nekoei-Moghadam, Mahmood; Aliram-Zany, Maryam; Amiresmaili, Mohammadreza

    2013-09-01

    Glucose-6-phosphate dehydrogenase is one of the most common genetic deficiencies, which approximately 400 million people in the world suffer from. According to authors' initial search, numerous studies have been carried out in Iran regarding molecular variants of this enzyme. Thus, this meta-analysis presented a reliable estimation about prevalence of different types of molecular mutations of G6PD Enzyme in Iran. Keywords "glucose 6 phosphate dehydrogenase or G6PD, Mediterranean or Chatham or Cosenza and mutation, Iran or Iranian and their Persian equivalents" were searched in different databases. Moreover, reference list of the published studies were examined to increase sensitivity and to select more studies. After studying titles and abstracts of retrieved articles, excluding the repeated and unrelated ones, and evaluating quality of articles, documents were selected. Data was analyzed using STATA. After performing systematic review, 22 papers were entered this meta-analysis and 1698 subjects were examined concerning G6PD molecular mutation. In this meta-analysis, prevalence of Mediterranean mutation, Chatham mutation and Cosenza mutation in Iran was estimated 78.2%, 9.1% and 0.5% respectively. This meta-analysis showed that in spite of prevalence of different types of G6PD molecular mutations in center, north, north-west and west of Iran, the most common molecular mutations in people with G6PD deficiency in Iran, like other Mediterranean countries and countries around Persian Gulf, were Mediterranean mutation, Chatham mutation and Cosenza mutation. It is also recommended that future studies may focus on races and regions which haven't been taken into consideration up to now.

  5. Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant

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    Edson Jiovany Ramírez-Nava

    2017-10-01

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD is a key regulatory enzyme that plays a crucial role in the regulation of cellular energy and redox balance. Mutations in the gene encoding G6PD cause the most common enzymopathy that drives hereditary nonspherocytic hemolytic anemia. To gain insights into the effects of mutations in G6PD enzyme efficiency, we have investigated the biochemical, kinetic, and structural changes of three clinical G6PD variants, the single mutations G6PD A+ (Asn126AspD and G6PD Nefza (Leu323Pro, and the double mutant G6PD A− (Asn126Asp + Leu323Pro. The mutants showed lower residual activity (≤50% of WT G6PD and displayed important kinetic changes. Although all Class III mutants were located in different regions of the three-dimensional structure of the enzyme and were not close to the active site, these mutants had a deleterious effect over catalytic activity and structural stability. The results indicated that the G6PD Nefza mutation was mainly responsible for the functional and structural alterations observed in the double mutant G6PD A−. Moreover, our study suggests that the G6PD Nefza and G6PD A− mutations affect enzyme functions in a similar fashion to those reported for Class I mutations.

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

    Science.gov (United States)

    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.

  7. Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling.

    Science.gov (United States)

    Balgir, R S

    2010-06-01

    (i) To study the outcome of ignorance and lack of awareness about sickle cell disease and G-6-PD deficiency among Dhelki Kharia tribal families of Orissa, and (ii) to study the reproductive output in relation to clinical genetics and patho-physiological implications. A random genetic study of screening for hemoglobinopathies and G-6-PD deficiency among Dhelki Kharia tribal community in Sundargarh district of Orissa was carried out for intervention during the year 2000-2004. A total of 81 Dhelki Kharia families were screened and six families with double heterozygosity for above genetic anomalies were encountered. About 2-3 ml. intravenous blood samples were collected in EDTA by disposable syringes and needles after taking informed consent from each individual in the presence of a doctor and community leaders and sent to laboratory at Bhubaneswar for hematological investigations. Analysis was carried out following the standard procedures after cross checking for quality control. There were 12 (about 52%) children out of 23 who were either suffering from sickle cell trait or disease in concurrence with G-6-PD deficiency in hemizygous/heterozygous/homozygous condition in Dhelki Kharia tribal community of Orissa. There were on an average 3.83 number of surviving (range 2-6) children per mother in families of G-6-PD deficiency and sickle cell disorders. The average number of children (3.83) born (range 2-6 children) per mother to carrier/affected mother was much higher than the average for India (2.73). It is very difficult to maintain the normal health of an affected child with aberrant anomalies due to exorbitant cost of treatment, frequent transfusions and huge involvement of economy. One of the implications of aberrant heterosis is its adverse affects on routine individual physiology and hard activities. It is suggested to limit the family size in carrier couples to avoid aberrant heterosis of hereditary hemolytic disorders in their offsprings.

  8. G6PD: The Test

    Science.gov (United States)

    ... a G6PD deficiency if a male inherits the single X chromosome with an altered gene. Since women have two X sex chromosomes, they inherit two ... deficiency. In addition, a mother may pass the single mutated gene to any male children. Rarely do women have two mutated gene copies ( homozygous ), which could ...

  9. Two apparent glucose-6-phosphate dehydrogenase variants in normal XY males: G6PD Alabama.

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    Prchal, J T; Hall, K; Csepreghy, M; Lilly, M; Berkow, R; Scott, C W

    1988-03-01

    A six-year-old black boy who had transient hemolysis after a viral infection was found to have mildly decreased red cell glucose-6-phosphate dehydrogenase (G6PD) activity (1.25 IU/g hemoglobin). Two G6PD bands, both slightly faster than normal G6PD B, were seen on electrophoresis in both the propositus as well as in his maternal grandfather. This is an unexpected finding, since the G6PD gene is located on the long arm of the X chromosome that is subject to X-chromosome inactivation, and available evidence indicates that it is present as a single functional copy in the human genome. The obvious possibility of duplication of the X chromosome was eliminated by cytogenetic analysis with G-banding. G6PD duplication is unlikely, since peripheral blood granulocytes, platelets, and lymphocytes; cultured skin and bone marrow fibroblasts; and Epstein-Barr virus-stimulated lymphocytes yielded only a single electrophoretic band with mobility identical to the slower band seen in crude red blood cell hemolysate. Study of partially purified red blood cell hemolysate G6PD also yielded a single band with identical mobility. Kinetic studies of the enzyme in the propositus and in three generations of his family identified a unique, previously unpublished G6PD mutant that is herein designated G6PD Alabama. Red blood cells were separated by density gradient into a reticulocyte-enriched, an intermediate, and a dense, older portion. Two distinct enzyme bands were identified on electrophoresis of hemolysate from the reticulocyte-enriched portion, but not from the other two portions. It is postulated that two transcriptional products of the mutant G6PD gene exist; one with a short half-life and detectable only in young red blood cells, and another with a longer half-life present in all cells. The existence of two distinct mutant genes in the genome or a unique post-translational form of the mutant G6PD detected only in reticulocytes cannot be excluded.

  10. (G6PD) in stored blood

    African Journals Online (AJOL)

    Red blood cell viability in stored blood determines successful transfusion. Glucose-6-phosphate dehydrogenase (G6PD) activity has been shown to maintain red blood cell membrane integrity. This study was, therefore, aimed at estimating the G6PD activity in stored blood bags at the blood bank of the University of Nigeria ...

  11. 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

  12. 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.

  13. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in patients ...

    African Journals Online (AJOL)

    This is a study of Glucose-6-phosphate dehydrogenase(G6PD) deficiency in sickle cell anaemia patients attending the haematology clinic of the Jos University Teaching Hospital (JUTH), Jos- Nigeria. The prevalence of G6PD deficiency among the 130 sickle cell anaemia patients studied was found to be 18.5%. G6PD ...

  14. Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar.

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    Lee, Jinyoung; Kim, Tae Im; Kang, Jung-Mi; Jun, Hojong; Lê, Hương Giang; Thái, Thị Lam; Sohn, Woon-Mok; Myint, Moe Kyaw; Lin, Khin; Kim, Tong-Soo; Na, Byoung-Kuk

    2018-03-16

    Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is one of the most common X-linked recessive hereditary disorders in the world. Primaquine (PQ) has been used for radical cure of P. vivax to prevent relapse. Recently, it is also used to reduce P. falciparum gametocyte carriage to block transmission. However, PQ metabolites oxidize hemoglobin and generate excessive reactive oxygen species which can trigger acute hemolytic anemia in malaria patients with inherited G6PD deficiency. A total of 252 blood samples collected from malaria patients in Myanmar were used in this study. G6PD variant was analysed by a multiplex allele specific PCR kit, DiaPlexC™ G6PD Genotyping Kit [Asian type]. The accuracy of the multiplex allele specific PCR was confirmed by sequencing analysis. Prevalence and distribution of G6PD variants in 252 malaria patients in Myanmar were analysed. Six different types of G6PD allelic variants were identified in 50 (7 females and 43 males) malaria patients. The predominant variant was Mahidol (68%, 34/50), of which 91.2% (31/34) and 8.8% (3/34) were males and females, respectively. Other G6PD variants including Kaiping (18%, 9/50), Viangchan (6%, 3/50), Mediterranean (4%, 2/50), Union (2%, 1/50) and Canton (2%, 1/50) were also observed. Results of this study suggest that more concern for proper and safe use of PQ as a radical cure of malaria in Myanmar is needed by combining G6PD deficiency test before PQ prescription. Establishment of a follow-up system to monitor potential PQ toxicity in malaria patients who are given PQ is also required.

  15. 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

  16. G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase) (For Parents)

    Science.gov (United States)

    ... genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome. G6PD deficiency is most common in males of African heritage. Many females of African heritage are carriers ...

  17. Neonatal nucleated red blood cells in G6PD deficiency.

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    Yeruchimovich, Mark; Shapira, Boris; Mimouni, Francis B; Dollberg, Shaul

    2002-05-01

    The objective of this study is to study the absolute number of nucleated red blood cells (RBC) at birth, an index of active fetal erythropoiesis, in infants with G6PD deficiency and in controls. We tested the hypothesis that hematocrit and hemoglobin would be lower, and absolute nucleated RBC counts higher, in the G6PD deficient and that these changes would be more prominent in infants exposed passively to fava bean through maternal diet. Thirty-two term infants with G6PD deficiency were compared with 30 term controls. Complete blood counts with manual differential counts were obtained within 12 hours of life. Absolute nucleated RBC and corrected leukocyte counts were computed from the Coulter results and the differential count. G6PD deficient patients did not differ from controls in terms of gestational age, birth weight, or Apgar scores or in any of the hematologic parameters studied, whether or not the mother reported fava beans consumption in the days prior to delivery. Although intrauterine hemolysis is possible in G6PD deficient fetuses exposed passively to fava beans, our study supports that such events must be very rare.

  18. Methods for the field evaluation of quantitative G6PD diagnostics: a review.

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    Ley, Benedikt; Bancone, Germana; von Seidlein, Lorenz; Thriemer, Kamala; Richards, Jack S; Domingo, Gonzalo J; Price, Ric N

    2017-09-11

    Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency are at risk of severe haemolysis following the administration of 8-aminoquinoline compounds. Primaquine is the only widely available 8-aminoquinoline for the radical cure of Plasmodium vivax. Tafenoquine is under development with the potential to simplify treatment regimens, but point-of-care (PoC) tests will be needed to provide quantitative measurement of G6PD activity prior to its administration. There is currently a lack of appropriate G6PD PoC tests, but a number of new tests are in development and are likely to enter the market in the coming years. As these are implemented, they will need to be validated in field studies. This article outlines the technical details for the field evaluation of novel quantitative G6PD diagnostics such as sample handling, reference testing and statistical analysis. Field evaluation is based on the comparison of paired samples, including one sample tested by the new assay at point of care and one sample tested by the gold-standard reference method, UV spectrophotometry in an established laboratory. Samples can be collected as capillary or venous blood; the existing literature suggests that potential differences in capillary or venous blood are unlikely to affect results substantially. The collection and storage of samples is critical to ensure preservation of enzyme activity, it is recommended that samples are stored at 4 °C and testing occurs within 4 days of collection. Test results can be visually presented as scatter plot, Bland-Altman plot, and a histogram of the G6PD activity distribution of the study population. Calculating the adjusted male median allows categorizing results according to G6PD activity to calculate standard performance indicators and to perform receiver operating characteristic (ROC) analysis.

  19. Recombinant human G6PD for quality control and quality assurance of novel point-of-care diagnostics for G6PD deficiency.

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    Maria Kahn

    Full Text Available A large gap for the support of point-of-care testing is the availability of reagents to support quality control (QC of diagnostic assays along the supply chain from the manufacturer to the end user. While reagents and systems exist to support QC of laboratory screening tests for glucose-6-phosphate dehydrogenase (G6PD deficiency, they are not configured appropriately to support point-of-care testing. The feasibility of using lyophilized recombinant human G6PD as a QC reagent in novel point-of-care tests for G6PD deficiency is demonstrated.Human recombinant G6PD (r-G6PD was expressed in Escherichia coli and purified. Aliquots were stored at -80°C. Prior to lyophilization, aliquots were thawed, and three concentrations of r-G6PD (representing normal, intermediate, and deficient clinical G6PD levels were prepared and mixed with a protective formulation, which protects the enzyme activity against degradation from denaturation during the lyophilization process. Following lyophilization, individual single-use tubes of lyophilized r-G6PD were placed in individual packs with desiccants and stored at five temperatures for one year. An enzyme assay for G6PD activity was used to ascertain the stability of r-G6PD activity while stored at different temperatures.Lyophilized r-G6PD is stable and can be used as a control indicator. Results presented here show that G6PD activity is stable for at least 365 days when stored at -80°C, 4°C, 30°C, and 45°C. When stored at 55°C, enzyme activity was found to be stable only through day 28.Lyophilized r-G6PD enzyme is stable and can be used as a control for point-of-care tests for G6PD deficiency.

  20. Molecular epidemiology and activity of erythrocyte G6PD variants in ...

    African Journals Online (AJOL)

    G6PD activity decreased significantly with age among non-deficient individuals. The range of enzyme activities was wide and overlapping among the different G6PD variants. Conclusion: G6PD deficiency was very high in the population. The gene frequencies were similar to previous findings. Molecular methods of typing ...

  1. Molecular Identification of G6PD Chatham (G1003A) in Khuzestan ...

    Indian Academy of Sciences (India)

    Glucose-6-phosphate dehydrogenase (G6PD) is the first enzyme in pentose phosphate pathway and the main intracel- lular source of NADPH. Since G6PD is the only source of. NADPH in red blood cells, defense against oxidative damage strongly depends on its activity (Mehta et al. 2000). Defi- ciency of G6PD enzyme in ...

  2. 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.

  3. [Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency].

    Science.gov (United States)

    Mañú Pereira, María Del Mar; Cabot, Anna; Martínez González, Ana; Sitjà Navarro, Eulalia; Cararach, Vicent; Sabrià, Josep; Boixaderas, Jordi; Teixidor, Roser; Bosch, Albert; López Vílchez, M Angeles; Martín Ibáñez, Itziar; Carrión, Teresa; Plaja, Pere; Sánchez, Mario; Vives Corrons, José Luis

    2007-06-30

    The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.

  4. Glucose 6 phosphatase dehydrogenase (G6PD and neurodegenerative disorders: Mapping diagnostic and therapeutic opportunities

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    Manju Tiwari

    2017-12-01

    Full Text Available Glucose 6 phosphate dehydrogenase (G6PD is a key and rate limiting enzyme in the pentose phosphate pathway (PPP. The physiological significance of enzyme is providing reduced energy to specific cells like erythrocyte by maintaining co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH. There are preponderance research findings that demonstrate the enzyme (G6PD role in the energy balance, and it is associated with blood-related diseases and disorders, primarily the anemia resulted from G6PD deficiency. The X-linked genetic deficiency of G6PD and associated non-immune hemolytic anemia have been studied widely across the globe. Recent advancement in biology, more precisely neuroscience has revealed that G6PD is centrally involved in many neurological and neurodegenerative disorders. The neuroprotective role of the enzyme (G6PD has also been established, as well as the potential of G6PD in oxidative damage and the Reactive Oxygen Species (ROS produced in cerebral ischemia. Though G6PD deficiency remains a global health issue, however, a paradigm shift in research focusing the potential of the enzyme in neurological and neurodegenerative disorders will surely open a new avenue in diagnostics and enzyme therapeutics. Here, in this study, more emphasis was made on exploring the role of G6PD in neurological and inflammatory disorders as well as non-immune hemolytic anemia, thus providing diagnostic and therapeutic opportunities.

  5. Cell-derived microparticles after exercise in individuals with G6PD Viangchan.

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    Chanda, Makamas; Nantakomol, Duangdao; Suksom, Daroonwan; Palasuwan, Attakorn

    2015-07-16

    Glucose-6-phospate dehydrogenase (G6PD) deficient cells are sensitive to oxidative damage leading to the formation of microparticles (MPs). Therefore, we examined the concentration of MPs and changes in the antioxidant balance after an acute strenuous exercise (SEx) and moderate-intensity exercise (MEx). Eighteen healthy females (18-24 years) with G6PD normal and eighteen age-matched females with G6PD Viangchan (871G>A) were tested by running on a treadmill at their maximal oxygen uptake for SEx and at 75% of their maximal heart rate for MEx. It was found that SEx triggered the release of total microparticles (TTMPs) above baseline levels and remained significantly higher 45 minutes after the exercise in G6PD normal individuals. However, SEx-induced increase in TTMPs was significantly higher in G6PD Viangchan as compared to G6PD normal. In contrast, MEx did not to alter the release of TTMPs in both G6PD normal and Viangchan. Moreover, TTMPs concentrations were inversely correlated with G6PD activity (r =-0.82, P stress compared with G6PD normal.

  6. Prevalence and molecular characterization of G6PD deficiency in two Plasmodium vivax endemic areas in Venezuela: predominance of the African A-(202A/376G) variant.

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    Vizzi, Esmeralda; Bastidas, Gilberto; Hidalgo, Mariana; Colman, Laura; Pérez, Hilda A

    2016-01-11

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency causes acute haemolytic anaemia triggered by oxidative drugs such as primaquine (PQ), used for Plasmodium vivax malaria radical cure. However, in many endemic areas of vivax malaria, patients are treated with PQ without any evaluation of their G6PD status. G6PD deficiency and its genetic heterogeneity were evaluated in northeastern and southeastern areas from Venezuela, Cajigal (Sucre state) and Sifontes (Bolívar state) municipalities, respectively. Blood samples from 664 randomly recruited unrelated individuals were screened for G6PD activity by a quantitative method. Mutation analysis for exons 4-8 of G6PD gen was performed on DNA isolated from G6PD-deficient (G6PDd) subjects through PCR-RFLP and direct DNA sequencing. Quantitative biochemical characterization revealed that overall 24 (3.6%) subjects were G6PDd (average G6PD enzyme activity 4.5 ± 1.2 U/g Hb, moderately deficient, class III), while DNA analysis showed one or two mutated alleles in 19 of them (79.2%). The G6PD A-(202A/376G) variant was the only detected in 17 (70.8%) individuals, 13 of them hemizygous males and four heterozygous females. Two males carried only the 376A → G mutation. No other mutation was found in the analysed exons. The G6PDd prevalence was as low as that one shown by nearby countries. This study contributes to the knowledge of the genetic background of Venezuelan population, especially of those living in malaria-endemic areas. Despite the high degree of genetic mixing described for Venezuelan population, a net predominance of the mild African G6PD A-(202A/376G) variant was observed among G6PDd subjects, suggesting a significant flow of G6PD genes from Africa to Americas, almost certainly introduced through African and/or Spanish immigrants during and after the colonization. The data suggest that 1:27 individuals of the studied population could be G6PDd and therefore at risk of haemolysis under precipitating factors

  7. Oral supplementation of vitamin E reduces osmotic fragility of RBC in hemolytic anemic patients with G6PD deficiency

    International Nuclear Information System (INIS)

    Sultana, N.; Begum, S.; Begum, N.; Ali, T.

    2009-01-01

    Vitamin E has role in maintaining the integrity of red cell member by preventing oxidation of polyunsaturated fatty acids, thus protects cells from oxidative stress-induced lysis in G6PD deficiency. Changes in osmotic fragility of RBC and some absolute values like MCV, MCH and MCHC may occur in haemolytic anaemic patients with G6PD deficiency. To observe the effects of vitamin E supplementation on these changes in order to evaluate the role of this anti-oxidant vitamin in reducing chronic haemolysis in G6PD deficient patients. A total number of 102 subjects with age ranged of 5 to 40 years of both sexes were included in the study. Among them 68 were G6PD enzyme deficient patients, of whom 34 were in supplemented group (experimental group) and 34 were in non-supplemented group (control group). The supplemented group received vitamin E supplementation for 60 consecutive days at a dose of 800 IU/day for adult and 400 IU/day for children ?12 years (in a divided dose, i.e., 4 times daily). Age and sex matched 34 apparently healthy subjects with normal blood G6PD level were taken to observe the base line data (healthy control) and also for comparison. All the G6PD deficient patients were selected from Out Patient Department (OPD) of Haematology, Banglabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from July 2005 to June 2006 and all healthy subjects were selected from personal contact. Blood G6PD level, osmotic fragility of RBC were measured by standard techniques and MCV, MCH, and MCHC were obtained by calculation. All the parameters were measured on day 1 of their first visit and also were on day 60 in deficient group. Data were compared among the deficient groups, also in supplemented group just before and after supplementation. Analysis of data was done by appropriate statistical method. Mean starting and completing points of osmotic fragility of RBC were significantly higher but MCV. MCH, MCHC were significantly lower in patients suffering from

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

    Directory of Open Access Journals (Sweden)

    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.

  9. G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic

    Science.gov (United States)

    Xu, Julia Z.; Francis, Richard O.; Lerebours Nadal, Leonel E.; Shirazi, Maryam; Jobanputra, Vaidehi; Hod, Eldad A.; Jhang, Jeffrey S.; Stotler, Brie A.; Spitalnik, Steven L.; Nicholas, Stephen W.

    2015-01-01

    Because human immunodeficiency virus (HIV)-infected patients receive prophylaxis with oxidative drugs, those with glucose-6-phosphate dehydrogenase (G6PD) deficiency may experience hemolysis. However, G6PD deficiency has not been studied in the Dominican Republic, where many individuals have African ancestry. Our objective was to determine the prevalence of G6PD deficiency in Dominican HIV-infected patients and to attempt to develop a cost-effective algorithm for identifying such individuals. To this end, histories, chart reviews, and G6PD testing were performed for 238 consecutive HIV-infected adult clinic patients. The overall prevalence of G6PD deficiency (8.8%) was similar in males (9.3%) and females (8.5%), and higher in Haitians (18%) than Dominicans (6.4%; P = 0.01). By logistic regression, three clinical variables predicted G6PD status: maternal country of birth (P = 0.01) and a history of hemolysis (P = 0.01) or severe anemia (P = 0.03). Using these criteria, an algorithm was developed, in which a patient subset was identified that would benefit most from G6PD screening, yielding a sensitivity of 94.7% and a specificity of 97.2%, increasing the pretest probability (8.8–15.1%), and halving the number of patients needing testing. This algorithm may provide a cost-effective strategy for improving care in resource-limited settings. PMID:26240158

  10. Parental discussion of G6PD deficiency and child health: implications for clinical practice.

    Science.gov (United States)

    Guan, Yue; Roter, Debra L; Huang, Aichu; Erby, Lori A H; Chien, Yin-Hsiu; Hwu, Wuh-Liang

    2014-03-01

    Parents are encouraged to discuss self-care with children affected by G6PD deficiency; however, little is known about the extent or impact of these discussions on the physical and psychosocial health of these children. The purpose of this study was to examine the nature of parental-child discussions of G6PD deficiency self-care and their relationship to child health. A quantitative cross-sectional survey of 178 Taiwanese parents of children with G6PD deficiency was conducted. The extent of parental-child self-care discussions was assessed in regards to coverage of nine key topics. Parent's G6PD deficiency status, knowledge of haemolytic anaemia symptoms and reported G6PD deficiency education from providers were examined as correlates of parental discussion. Child health was assessed with the child health questionnaire-parent form (Chinese version) and a 13-item haemolytic anaemia symptom list. Self-care discussions were positively correlated with parental G6PD deficiency status (β=2.08, p=0.03), accurate identification of haemolytic anaemia symptoms (β=0.18, p=0.01), the thoroughness and clarity of patient education (β=0.14, pchild age (β=1.04, pchild health (β=1.18, pchild G6PD deficiency self-care discussions are associated with better child health, and parental involvement in these discussions is facilitated by the thoroughness and clarity of patient education received from providers.

  11. Glucose 6 phosphatase dehydrogenase (G6PD) and neurodegenerative disorders: Mapping diagnostic and therapeutic opportunities

    OpenAIRE

    Manju Tiwari

    2017-01-01

    Glucose 6 phosphate dehydrogenase (G6PD) is a key and rate limiting enzyme in the pentose phosphate pathway (PPP). The physiological significance of enzyme is providing reduced energy to specific cells like erythrocyte by maintaining co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). There are preponderance research findings that demonstrate the enzyme (G6PD) role in the energy balance, and it is associated with blood-related diseases and disorders, primarily the anemia resulted f...

  12. 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.

  13. Frequency of G6PD Mediterranean in individuals with and without malaria in Southern Pakistan.

    Science.gov (United States)

    Moiz, Bushra; Arshad, Haroon Muhammad; Raheem, Ahmed; Hayat, Hasan; Karim Ghanchi, Najia; Beg, M Asim

    2017-10-24

    Pakistan has an estimated annual burden of 1.5 million malaria cases. The current situation calls for an effective malaria control and eradication programme in this country. Currently, primaquine is an attractive option for eliminating reservoirs of Plasmodium vivax hypnozoites and killing gametocytes of Plasmodium falciparum. However, this drug causes haemolysis in individuals who are glucose-6-phosphate (G6PD) deficient. It is important to map G6PD deficiency and malaria distribution in Pakistan to design an effective malaria eradication regimen. Frequency of G6PD deficiency (G6PDd) in malaria patients has not been reported from Pakistan in any meaningful way. The purpose of this study was to evaluate the frequency of G6PD c.563C>T (G6PD Mediterranean) in male individuals with and without falciparum malaria. Two hundred and ten archived DNA samples from males (110 from falciparum malaria patients and 100 from healthy individuals) were utilized in this study. Healthy blood donors were selected based on stringent pre-defined criteria. Patients were confirmed for malaria parasites on microscopy and or immune chromatographic assay detecting P. falciparum histidine-rich protein 2. Parasitaemia was also computed. DNA samples were tested for G6PD c.563C>T mutation through PCR-RFLP according to the previously defined protocol and its allelic frequency was computed. G6PD c.563C>T was observed in four of 110 patients with falciparum malaria and in two of 100 healthy donors. Mean (± SD) haemoglobin, median (IQR) platelet and median (IQR) parasite count in G6PD-deficient malaria-patients were 8.9 ± 0.9 g/dL, 124 × 109/L (IQR 32, 171) and 57,920/μL of blood (IQR 12,920, 540,000) respectively. Cumulative allelic frequency for G6PD 563c.C>T was 0.0285 detected in 6 of 210 X-chromosomes in Southern Pakistan. Frequency for this G6PD allele was 0.0364 in malaria-patients and 0.0200 in healthy individuals. Large studies including females are needed to elucidate the true

  14. 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.

  15. Severe acute haemolytic anaemia associated with severe methaemoglobinaemia in a G6PD-deficient man.

    Science.gov (United States)

    Rehman, Abdul; Shehadeh, Mohanad; Khirfan, Diala; Jones, Akhnuwhkh

    2018-03-28

    Methaemoglobin is a form of haemoglobin in which the ferrous (Fe 2+ ) ion contained in the iron-porphyrin complex of haem is oxidised to its ferric (Fe 3+ ) state. Methaemoglobinaemia, the presence of methaemoglobin in the blood, is most commonly treated with methylene blue. However, methylene blue cannot be used in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency as it is ineffective in such patients and it can worsen G6PD deficiency haemolysis. We report the case of a 30-year-old man who presented with clinical features of G6PD deficiency-associated haemolysis and was found to have severe methaemoglobinaemia (35%). He was administered blood transfusions and intravenous ascorbic acid. His methaemoglobinaemia resolved within 24 hours. This case demonstrates the successful management of a patient with severe methaemoglobinaemia in the setting of G6PD deficiency haemolysis. Emergency physicians should be aware of the possible co-occurrence of severe methaemoglobinaemia in a patient with G6PD deficiency haemolysis. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. BAG3 elevation inhibits cell proliferation via direct interaction with G6PD in hepatocellular carcinomas.

    Science.gov (United States)

    Kong, De-Hui; Li, Si; Du, Zhen-Xian; Liu, Chuan; Liu, Bao-Qin; Li, Chao; Zong, Zhi-Hong; Wang, Hua-Qin

    2016-01-05

    Bcl-2 associated athanogene 3 (BAG3) contains multiple protein-binding motifs to mediate potential interactions with chaperons and/or other proteins, which is possibly ascribed to the multifaceted functions assigned to BAG3. The current study demonstrated that BAG3 directly interacted with glucose 6 phosphate dehydrogenase (G6PD), the rate-limiting enzyme of the pentose phosphate pathway (PPP). BAG3 suppressed the PPP flux, de novo DNA synthesis and cell growth in hepatocellular carcinomas (HCCs). The growth defect of HCCs with forced BAG3 expression can be rescued by enforced G6PD expression. However, BAG3 elevation did not cause a reduction in cellular NADPH concentrations, another main product of G6PD. In addition, supplement of nucleosides alone was sufficient to recover the growth defect mediated by BAG3 elevation. Collectively, the current study established a tumor suppressor-like function of BAG3 via direct interaction with G6PD in HCCs at the cellular level.

  17. Prevalence of glucose-6-phosphate dehydrogenase (G6PD deficiency in neonates in Bunda Women's and Children's Hospital, Jakarta, Indonesia

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    Risma Kerina Kaban

    2011-02-01

    Full Text Available Background Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most connnon enzyme deficiency in the world. Itis a risk factor for hyperbilirubinemia in neonates, which can cause serious complications such as bilirubininduced encephalopathy or kernicterus. WHO recommends universal neonatal screening for G6PD deficiency when the frequency exceeds 35% of male newborns. Objective To assess the prevalence of G6PD deficiency among neonates in Bunda Women and C hildren Hospital (Bunda WCH, Jakarta, in order to detennine if there is a need for routine G6PD neonatal screening. Methods This is a cross-sectional and retrospective study; infants' data were obtained from medical records. From January 2009 to May 2010, all neonates in Bunda WCH were screened for G6PD deficiency on the yd day of life. Blood samples were collected using filter papers. We considered a result to be nonnal if it exceeded 3.6 U/g Hb. Results A total 1802 neonates were screened. We found 94 neonates (5.2% with G6PD deficiency. Out of 943 males, 59 (6.26% were G6PD deficient, and out of 859 females, 35 (4.07% were G6PD deficient. We observed that prevalence of G6PD deficiency according to sex distribution was significantly higher in males than females (6.26% vs. 4.07%, P=0.037. There was no significant difference in the risk for severe hyperbilirubinemia between the G6PD deficient infants and the nonnal infants (P=0.804. Conclusions The frequencies of G6PD deficiency were 6.26% of male neonates and 4.07% of female neonates. We recommend universal neonatal screening for G6PD deficiencies in Jakarta since our findings exceed the WHO recommendation for routine testing.

  18. 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

  19. Kawasaki disease with G6PD deficiency--report of one case and literature review.

    Science.gov (United States)

    Chen, Chia-Hao; Lin, Li-Yan; Yang, Kuender D; Hsieh, Kai-Sheng; Kuo, Ho-Chang

    2014-06-01

    Kawasaki disease (KD) is a systemic vasculitis primarily affecting children who are younger than 5 years. The most serious complications are coronary artery aneurysms and sequelae of vasculitis with the subsequent development of coronary artery aneurysm. According to the literature, intravenous immunoglobulin (IVIG) plus high-dose aspirin (acetylsalicylic acid) were standard treatment for KD, whereas low-dose aspirin (3-5 mg/kg/day) was used for thrombocytosis in KD via antiplatelet effect. However, aspirin has been reported to have hemolytic potential in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We report a child with G6PD-deficiency who has KD, and review the literature. Copyright © 2012. Published by Elsevier B.V.

  20. Diurnal fluctuation of leukocyte G6PD activity. A possible explanation for the normal neutrophil bactericidal activity and the low incidence of pyogenic infections in patients with severe G6PD deficiency in Israel

    NARCIS (Netherlands)

    Wolach, Baruch; Ashkenazi, Meir; Grossmann, Rami; Gavrieli, Ronit; Friedman, Ziva; Bashan, Nava; Roos, Dirk

    2004-01-01

    Acute hemolytic anemia associated with red blood cell (RBC) glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly encountered in the Mediterranean basin. Nevertheless, concomitant clinical evidence of white blood cell G6PD deficiency is extremely rare in Israel. This study sought to assess

  1. Reduced prevalence of Plasmodium falciparum infection and of concomitant anaemia in pregnant women with heterozygous G6PD deficiency

    NARCIS (Netherlands)

    Mockenhaupt, Frank P.; Mandelkow, Jantina; Till, Holger; Ehrhardt, Stephan; Eggelte, Teunis A.; Bienzle, Ulrich

    2003-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency confers protection against malaria in children, yet its role in malaria in pregnancy is unknown. In a cross-sectional study among 529 pregnant Ghanaian women, Plasmodium falciparum infection, anaemia and G6PD genotypes were assessed. Of these,

  2. X-Linked G6PD Deficiency Protects Hemizygous Males but Not Heterozygous Females against Severe Malaria

    OpenAIRE

    Guindo, Aldiouma; Fairhurst, Rick M; Doumbo, Ogobara K; Wellems, Thomas E; Diallo, Dapa A

    2007-01-01

    Editors' Summary Background. “Favism” is a condition that results from a deficiency in an enzyme called glucose-6-phosphate dehydrogenase (G6PD), and this disorder is thought to be the commonest enzyme-deficiency disease worldwide. The disease is named favism after the Italian word for broad beans (fava), which cause a classic reaction when eaten by people with G6PD deficiency. The G6PD enzyme is particularly important in red blood cells, where it protects against damage that can be caused by...

  3. Interesting case of G6PD deficiency anemia with severe hemolysis

    Directory of Open Access Journals (Sweden)

    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.

  4. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.

    Science.gov (United States)

    Relling, M V; McDonagh, E M; Chang, T; Caudle, K E; McLeod, H L; Haidar, C E; Klein, T; Luzzatto, L

    2014-08-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia (AHA) induced by a number of drugs. We provide guidance as to which G6PD genotypes are associated with G6PD deficiency in males and females. Rasburicase is contraindicated in G6PD-deficient patients due to the risk of AHA and possibly methemoglobinemia. Unless preemptive genotyping has established a positive diagnosis of G6PD deficiency, quantitative enzyme assay remains the mainstay of screening prior to rasburicase use. The purpose of this article is to help interpret the results of clinical G6PD genotype tests so that they can guide the use of rasburicase. Detailed guidelines on other aspects of the use of rasburicase, including analyses of cost-effectiveness, are beyond the scope of this document. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines are published and updated periodically on https://www.pharmgkb.org/page/cpic to reflect new developments in the field.

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

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    Sharmini Gunawardena

    Full Text Available 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.

  6. 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

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

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    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.

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

    Science.gov (United States)

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

    2014-08-01

    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.

  9. Variant G6PD levels promote tumor cell proliferation or apoptosis via the STAT3/5 pathway in the human melanoma xenograft mouse model

    International Nuclear Information System (INIS)

    Hu, Tao; Zhang, Chunhua; Tang, Qiongling; Su, Yanan; Li, Bo; Chen, Long; Zhang, Zheng; Cai, Tianchi; Zhu, Yuechun

    2013-01-01

    Glucose-6-phosphate dehydrogenase (G6PD), elevated in tumor cells, catalyzes the first reaction in the pentose-phosphate pathway. The regulation mechanism of G6PD and pathological change in human melanoma growth remains unknown. HEM (human epidermal melanocyte) cells and human melanoma cells with the wild-type G6PD gene (A375-WT), G6PD deficiency (A375-G6PD∆), G6PD cDNA overexpression (A375-G6PD∆-G6PD-WT), and mutant G6PD cDNA (A375-G6PD∆-G6PD-G487A) were subcutaneously injected into 5 groups of nude mice. Expressions of G6PD, STAT3, STAT5, cell cycle-related proteins, and apoptotic proteins as well as mechanistic exploration of STAT3/STAT5 were determined by quantitative real-time PCR (qRT-PCR), immunohistochemistry and western blot. Delayed formation and slowed growth were apparent in A375-G6PD∆ cells, compared to A375-WT cells. Significantly decreased G6PD expression and activity were observed in tumor tissues induced by A375-G6PD∆, along with down-regulated cell cycle proteins cyclin D1, cyclin E, p53, and S100A4. Apoptosis-inhibited factors Bcl-2 and Bcl-xl were up-regulated; however, apoptosis factor Fas was down-regulated, compared to A375-WT cells. Moderate protein expressions were observed in A375-G6PD∆-G6PD-WT and A375-G6PD∆-G6PD-G487A cells. G6PD may regulate apoptosis and expression of cell cycle-related proteins through phosphorylation of transcription factors STAT3 and STAT5, thus mediating formation and growth of human melanoma cells. Further study will, however, be required to determine potential clinical applications

  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. TLQP-21 protects human umbilical vein endothelial cells against high-glucose-induced apoptosis by increasing G6PD expression.

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    Wei Zhang

    Full Text Available Hyperglycemia causes oxidative stress that could damage vascular endothelial cells, leading to cardiovascular complications. The Vgf gene was identified as a nerve growth factor-responsive gene, and its protein product, VGF, is characterized by the presence of partially cleaved products. One of the VGF-derived peptides is TLQP-21, which is composed of 21 amino acids (residues 556-576. Past studies have reported that TLQP-21 could stimulate insulin secretion in pancreatic cells and protect these cells from apoptosis, which suggests that TLQP-21 has a potential function in diabetes therapy. Here, we explore the protective role of TLQP-21 against the high glucose-mediated injury of vascular endothelial cells. Using human umbilical vascular endothelial cells (HUVECs, we demonstrated that TLQP-21 (10 or 50 nM dose-dependently prevented apoptosis under high-glucose (30 mmol/L conditions (the normal glucose concentration is 5.6 mmol/L. TLQP-21 enhanced the expression of NAPDH, resulting in upregulation of glutathione (GSH and a reduction in the levels of reactive oxygen species (ROS. TLQP-21 also upregulated the expression of glucose-6-phosphate dehydrogenase (G6PD, which is known as the main source of NADPH. Knockdown of G6PD almost completely blocked the increase of NADPH induced by TLQP-21, indicating that TLQP-21 functions mainly through G6PD to promote NADPH generation. In conclusion, TLQP-21 could increase G6PD expression, which in turn may increase the synthesis of NADPH and GSH, thereby partially restoring the redox status of vascular endothelial cells under high glucose injury. We propose that TLQP-21 is a promising drug for diabetes therapy.

  12. Point-of-care G6PD diagnostics for Plasmodium vivax malaria is a clinical and public health urgency.

    Science.gov (United States)

    Baird, J Kevin

    2015-12-14

    Malaria caused by Plasmodium vivax threatens over 2 billion people globally and sickens tens of millions annually. Recent clinical evidence discredits the long-held notion of this infection as intrinsically benign revealing an often threatening course associated with mortality. Most acute attacks by this species derive from latent forms in the human liver called hypnozoites. Radical cure for P. vivax malaria includes therapy aimed both at the acute attack (blood schizontocidal) and against future attacks (hypnozoitocidal). The only hypnozoitocide available is primaquine, a drug causing life-threatening acute hemolytic anemia in patients with the inherited blood disorder glucose-6-phosphate dehydrogenase (G6PD) deficiency. This disorder affects 400 million people worldwide, at an average prevalence of 8 % in malaria-endemic nations. In the absence of certain knowledge regarding the G6PD status of patients infected by P. vivax, providers must choose between the risk of harm caused by primaquine and that caused by the parasite by withholding therapy. Resolving this dilemma requires the availability of point-of-care G6PD diagnostics practical for use in the impoverished rural tropics where the vast majority of malaria patients seek care.

  13. L-Cysteine in vitro can restore cellular glutathione and inhibits the expression of cell adhesion molecules in G6PD-deficient monocytes.

    Science.gov (United States)

    Parsanathan, Rajesh; Jain, Sushil K

    2018-04-06

    L-Cysteine is a precursor of glutathione (GSH), a potent physiological antioxidant. Excess glucose-6-phosphate dehydrogenase (G6PD) deficiency in African Americans and low levels of L-cysteine diet in Hispanics can contributes to GSH deficiency and oxidative stress. Oxidative stress and monocyte adhesion was considered to be an initial event in the progression of vascular dysfunction and atherosclerosis. However, no previous study has investigated the contribution of GSH/G6PD deficiency to the expression of monocyte adhesion molecules. Using human U937 monocytes, this study examined the effect of GSH/G6PD deficiency and L-cysteine supplementation on monocyte adhesion molecules. G6PD/GSH deficiency induced by either siRNA or inhibitors (6AN/BSO, respectively) significantly (p adhesion molecules (ICAM-1, VCAM-1, SELL, ITGB1 and 2); NADPH oxidase (NOX), reactive oxygen species (ROS) and MCP-1 were upregulated, and decreases in levels of GSH, and nitric oxide were observed. The expression of ICAM-1 and VCAM-1 mRNA levels increased in high glucose, MCP-1 or TNF-α-treated G6PD-deficient compared to G6PD-normal cells. L-Cysteine treatment significantly (p adhesion molecules. Thus, GSH/G6PD deficiency increases susceptibility to monocyte adhesion processes, whereas L-cysteine supplementation can restore cellular GSH/G6PD and attenuates NOX activity and expression of cell adhesion molecules.

  14. Validation of the quantitative point-of-care CareStart biosensor for assessment of G6PD activity in venous blood.

    Directory of Open Access Journals (Sweden)

    Germana Bancone

    Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common enzymopathy in the human population affecting an estimated 8% of the world population, especially those living in areas of past and present malaria endemicity. Decreased G6PD enzymatic activity is associated with drug-induced hemolysis and increased risk of severe neonatal hyperbilirubinemia leading to brain damage. The G6PD gene is on the X chromosome therefore mutations cause enzymatic deficiency in hemizygote males and homozygote females while the majority of heterozygous females have an intermediate activity (between 30-80% of normal with a large distribution into the range of deficiency and normality. Current G6PD qualitative tests are unable to diagnose G6PD intermediate activities which could hinder wide use of 8-aminoquinolines for Plasmodium vivax elimination. The aim of the study was to assess the diagnostic performances of the new Carestart G6PD quantitative biosensor.A total of 150 samples of venous blood with G6PD deficient, intermediate and normal phenotypes were collected among healthy volunteers living along the north-western Thailand-Myanmar border. Samples were analyzed by complete blood count, by gold standard spectrophotometric assay using Trinity kits and by the latest model of Carestart G6PD biosensor which analyzes both G6PD and hemoglobin.Bland-Altman comparison of the CareStart normalized G6PD values to that of the gold standard assay showed a strong bias in values resulting in poor area under-the-curve values for both 30% and 80% thresholds. Performing a receiver operator curve identified threshold values for the CareStart product equivalent to the 30% and 80% gold standard values with good sensitivity and specificity values, 100% and 92% (for 30% G6PD activity and 92% and 94% (for 80% activity respectively.The Carestart G6PD biosensor represents a significant improvement for quantitative diagnosis of G6PD deficiency over previous versions. Further

  15. Validation of the quantitative point-of-care CareStart biosensor for assessment of G6PD activity in venous blood.

    Science.gov (United States)

    Bancone, Germana; Gornsawun, Gornpan; Chu, Cindy S; Porn, Pen; Pal, Sampa; Bansil, Pooja; Domingo, Gonzalo J; Nosten, Francois

    2018-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in the human population affecting an estimated 8% of the world population, especially those living in areas of past and present malaria endemicity. Decreased G6PD enzymatic activity is associated with drug-induced hemolysis and increased risk of severe neonatal hyperbilirubinemia leading to brain damage. The G6PD gene is on the X chromosome therefore mutations cause enzymatic deficiency in hemizygote males and homozygote females while the majority of heterozygous females have an intermediate activity (between 30-80% of normal) with a large distribution into the range of deficiency and normality. Current G6PD qualitative tests are unable to diagnose G6PD intermediate activities which could hinder wide use of 8-aminoquinolines for Plasmodium vivax elimination. The aim of the study was to assess the diagnostic performances of the new Carestart G6PD quantitative biosensor. A total of 150 samples of venous blood with G6PD deficient, intermediate and normal phenotypes were collected among healthy volunteers living along the north-western Thailand-Myanmar border. Samples were analyzed by complete blood count, by gold standard spectrophotometric assay using Trinity kits and by the latest model of Carestart G6PD biosensor which analyzes both G6PD and hemoglobin. Bland-Altman comparison of the CareStart normalized G6PD values to that of the gold standard assay showed a strong bias in values resulting in poor area under-the-curve values for both 30% and 80% thresholds. Performing a receiver operator curve identified threshold values for the CareStart product equivalent to the 30% and 80% gold standard values with good sensitivity and specificity values, 100% and 92% (for 30% G6PD activity) and 92% and 94% (for 80% activity) respectively. The Carestart G6PD biosensor represents a significant improvement for quantitative diagnosis of G6PD deficiency over previous versions. Further improvements

  16. Single Low Dose Primaquine (0.25 mg/kg Does Not Cause Clinically Significant Haemolysis in G6PD Deficient Subjects.

    Directory of Open Access Journals (Sweden)

    Germana Bancone

    Full Text Available Primaquine is the only drug consistently effective against mature gametocytes of Plasmodium falciparum. The transmission blocking dose of primaquine previously recommended was 0.75 mg/kg (adult dose 45 mg but its deployment was limited because of concerns over haemolytic effects in patients with glucose-6-phosphate dehydrogenase (G6PD deficiency. G6PD deficiency is an inherited X-linked enzymatic defect that affects an estimated 400 million people around the world with high frequencies (15-20% in populations living in malarious areas. To reduce transmission in low transmission settings and facilitate elimination of P. falciparum, the World Health Organization now recommends adding a single dose of 0.25 mg/kg (adult dose 15 mg to Artemisinin-based Combination Therapies (ACTs without G6PD testing. Direct evidence of the safety of this low dose is lacking. Adverse events and haemoglobin variations after this treatment were assessed in both G6PD normal and deficient subjects in the context of targeted malaria elimination in a malaria endemic area on the North-Western Myanmar-Thailand border where prevalence of G6PD deficiency (Mahidol variant approximates 15%.The tolerability and safety of primaquine (single dose 0.25 mg base/kg combined with dihydroartemisinin-piperaquine (DHA-PPQ given three times at monthly intervals was assessed in 819 subjects. Haemoglobin concentrations were estimated over the six months preceding the ACT + primaquine rounds of mass drug administration. G6PD deficiency was assessed with a phenotypic test and genotyping was performed in male subjects with deficient phenotypes and in all females. Fractional haemoglobin changes in relation to G6PD phenotype and genotype and primaquine round were assessed using linear mixed-effects models. No adverse events related to primaquine were reported during the trial. Mean fractional haemoglobin changes after each primaquine treatment in G6PD deficient subjects (-5.0%, -4.2% and -4

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

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    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. Seizure is a rare presentation for acute hemolysis due to G6PD deficiency. We report a previously healthy boy who presented initially with seizure and cyanosis and subsequently acute hemolysis, due to glucose-6-phosphate dehydrogenase deficiency (G6PD) an

    OpenAIRE

    Afshin FAYYAZI; Ali KHAJEH; Hosein ESFAHANI

    2012-01-01

    Seizure is a rare presentation for acute hemolysis due to G6PD deficiency. We report a previously healthy boy who presented initially with seizure and cyanosis and subsequently acute hemolysis, due to glucose-6-phosphate dehydrogenase deficiency (G6PD) and probably secondary methemoglobinemia, following the ingestion of fava beans.

  19. Glucose-6-phosphate dehydrogenase (G6PD)-deficient infants: Enzyme activity and gene variants as risk factors for phototherapy in the first week of life.

    Science.gov (United States)

    Wong, Fei-Liang; Ithnin, Azlin; Othman, Ainoon; Cheah, Fook-Choe

    2017-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a recognised cause of severe neonatal hyperbilirubinaemia, and identifying which infants are at risk could optimise care and resources. In this study, we determined if G6PD enzyme activity (EA) and certain gene variants were associated with neonatal hyperbilirubinaemia requiring phototherapy during the first week after birth. Newborn infants with G6PD deficiency and a group with normal results obtained by the fluorescent spot test were selected for analyses of G6PD EA and the 10 commonly encountered G6PD mutations in this region, relating these with whether the infants required phototherapy before discharge from the hospital in the first week. A total of 222 infants with mean gestation and birth weight of 38.3 ± 1.8 weeks and 3.02 ± 0.48 kg, respectively, were enrolled. Of these, n = 121 were deficient with EA ≤6.76 U/g Hb, and approximately half (43%) received phototherapy in the first week after birth. The mean EA level was 3.7 U/g Hb. The EA had good accuracy in predicting phototherapy use, with area under the receiver-operating-characteristic curve of 0.81 ± 0.05. Infants on phototherapy more commonly displayed World Health Organization Class II mutations (deficiency in EA and mutation at c.1388G>A (adjusted odds ratio, 1.5 and 5.7; 95% confidence interval: 1.31-1.76 and 1.30-25.0, respectively) were independent risk factors for phototherapy. Low G6PD EA (G6PD gene variant, c.1388G>A, are risk factors for the need of phototherapy in newborn infants during the first week after birth. © 2017 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  20. Diagnostic performances of the fluorescent spot test for G6PD deficiency in newborns along the Thailand-Myanmar border: A cohort study.

    Science.gov (United States)

    Thielemans, Laurence; Gornsawun, Gornpan; Hanboonkunupakarn, Borimas; Paw, Moo Kho; Porn, Pen; Moo, Paw Khu; Van Overmeire, Bart; Proux, Stephane; Nosten, François; McGready, Rose; Carrara, Verena I; Bancone, Germana

    2018-01-01

    Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited enzymatic disorder associated with severe neonatal hyperbilirubinemia and acute haemolysis after exposure to certain drugs or infections. The disorder can be diagnosed phenotypically with a fluorescent spot test (FST), which is a simple test that requires training and basic laboratory equipment. This study aimed to assess the diagnostic performances of the FST used on umbilical cord blood by locally-trained staff and to compare test results of the neonates at birth with the results after one month of age. Methods : We conducted a cohort study on newborns at the Shoklo Malaria Research Unit, along the Thai-Myanmar border between January 2015 and May 2016. The FST was performed at birth on the umbilical cord blood by locally-trained staff and quality controlled by specialised technicians at the central laboratory. The FST was repeated after one month of age. Genotyping for common local G6PD mutations was carried out for all discrepant results. Results: FST was performed on 1521 umbilical cord blood samples. Quality control and genotyping revealed 10 misdiagnoses. After quality control, 10.7% of the males (84/786) and 1.2% of the females (9/735) were phenotypically G6PD deficient at birth. The FST repeated at one month of age or later diagnosed 8 additional G6PD deficient infants who were phenotypically normal at birth. Conclusions : This study shows the short-comings of the G6PD FST in neonatal routine screening and highlights the importance of training and quality control. A more conservative interpretation of the FST in male newborns could increase the diagnostic performances. Quantitative point-of-care tests might show higher sensitivity and specificity for diagnosis of G6PD deficiency on umbilical cord blood and should be investigated.

  1. Diagnostic performances of the fluorescent spot test for G6PD deficiency in newborns along the Thailand-Myanmar border: A cohort study [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Laurence Thielemans

    2018-01-01

    Full Text Available Background: Glucose-6-phosphate dehydrogenase (G6PD deficiency is an inherited enzymatic disorder associated with severe neonatal hyperbilirubinemia and acute haemolysis after exposure to certain drugs or infections. The disorder can be diagnosed phenotypically with a fluorescent spot test (FST, which is a simple test that requires training and basic laboratory equipment. This study aimed to assess the diagnostic performances of the FST used on umbilical cord blood by locally-trained staff and to compare test results of the neonates at birth with the results after one month of age. Methods: We conducted a cohort study on newborns at the Shoklo Malaria Research Unit, along the Thai-Myanmar border between January 2015 and May 2016. The FST was performed at birth on the umbilical cord blood by locally-trained staff and quality controlled by specialised technicians at the central laboratory. The FST was repeated after one month of age. Genotyping for common local G6PD mutations was carried out for all discrepant results. Results: FST was performed on 1521 umbilical cord blood samples. Quality control and genotyping revealed 10 misdiagnoses. After quality control, 10.7% of the males (84/786 and 1.2% of the females (9/735 were phenotypically G6PD deficient at birth. The FST repeated at one month of age or later diagnosed 8 additional G6PD deficient infants who were phenotypically normal at birth. Conclusions: This study shows the short-comings of the G6PD FST in neonatal routine screening and highlights the importance of training and quality control. A more conservative interpretation of the FST in male newborns could increase the diagnostic performances. Quantitative point-of-care tests might show higher sensitivity and specificity for diagnosis of G6PD deficiency on umbilical cord blood and should be investigated.

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

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    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.

  3. Comparison of Three Screening Test Kits for G6PD Enzyme Deficiency: Implications for Its Use in the Radical Cure of Vivax Malaria in Remote and Resource-Poor Areas in the Philippines.

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    Fe Esperanza Espino

    Full Text Available We evaluated a battery of Glucose-6-Phosphate Dehydrogenase diagnostic point-of-care tests (PoC to assess the most suitable product in terms of performance and operational characteristics for remote areas.Samples were collected in Puerto Princesa City, Palawan, Philippines and tested for G6PD deficiency with a fluorescent spot test (FST; Procedure 203, Trinity Biotech, Ireland, the semiquantitative WST8/1-methoxy PMS (WST; Dojindo, Japan and the Carestart G6PD Rapid Diagnostic Test (CSG; AccessBio, USA. Results were compared to spectrophotometry (Procedure 345, Trinity Biotech, Ireland. Sensitivity and specificity were calculated for each test with cut-off activities of 10%, 20%, 30% and 60% of the adjusted male median.The adjusted male median was 270.5 IU/10(12 RBC. FST and WST were tested on 621 capillary blood samples, the CSG was tested on venous and capillary blood on 302 samples. At 30% G6PD activity, sensitivity for the FST was between 87.7% (95%CI: 76.8% to 93.9% and 96.5% (95%CI: 87.9% to 99.5% depending on definition of intermediate results; the WST was 84.2% (95%CI: 72.1% to 92.5%; and the CSG was between 68.8% (95%CI: 41.3% to 89.0% and 93.8% (95%CI: 69.8% to 99.8% when the test was performed on capillary or venous blood respectively. Sensitivity of FST and CSG (tested with venous blood were comparable (p>0.05. The analysis of venous blood samples by the CSG yielded significantly higher results than FST and CSG performed on capillary blood (p<0.05. Sensitivity of the CSG varied depending on source of blood used (p<0.05.The operational characteristics of the CSG were superior to all other test formats. Performance and operational characteristics of the CSG performed on venous blood suggest the test to be a good alternative to the FST.

  4. The first evaluation of glucose-6-phosphate dehydrogenase deficiency (G6PD) gene mutation in malaria-endemic region at South Central Timor (SCT) district, Eastern Indonesia 2015-2016

    Science.gov (United States)

    Hutagalung, J.; Kusnanto, H.; Supargiyono; Sadewa, A. H.; Satyagraha, A. W.

    2018-03-01

    Primaquine (PQ) is the only licensed drug effective against P. vivax for specific hypnozoites and as a key drug in the malaria elimination stage. However, PQ can cause severe hemolysis in G6PD deficient individuals. Unfortunately, few epidemiological data of these disorders was in Indonesia. This study aimed to assesses the prevalence and genotyping variant of G6PDd among the people on malaria-endemic. Blood samples from 555 unrelated subjects in eastern Indonesia were for G6PDd by quantitative test and PCR-RFLP-DNA sequencing. All protocols followed by Promega, Madison, USA. The prevalence of malaria and anemia was 32.6% (181/555) and 16% (89/555) with P. vivaxdominant species 52.5% (95/181), respectively. Overall, 16.6% (92/555) subjects were G6PD deficient, including 58.7% (54/92) females and 41.3% (38/92). Among the 92 cases G6PD deficient molecularly studied, the genotype variant Vanua Lava (T10883C) were detected dominant and unknown G6PD deficient (T-13.154-C) in 3 cases. It was high G6PD deficient in eastern Indonesia indicate that diagnosis and management of G6PD deficient are necessary. Obligatory anti-malaria doses for G6PD deficient individuals, population screening, are needed on endemic malaria in eastern Indonesia.

  5. Effects of iron chloride/zeolıte on G6PD of rainbow trout (Oncorhynchus mykiss)'s liver tissue

    Science.gov (United States)

    Alak, Gonca; Uçar, Arzu; Parlak, Veysel; Kocaman, Esat Mahmut; Atamanalp, Muhammed

    2016-04-01

    Aquatic ecosystems have been negatively affected by the contamination of ground and surface waters as a result of various activities. Due to the ferrous chloride (FeCl2), which is used as the reducing agent for the organic synthesis reactions in the contamination of water column and sediment, iron salts may be very toxic for some aquatic organisms. In order to minimize these effects, natural products such as zeolite have been widely used in recently years. For this reason, rainbow trout were exposed to FeCl2 and/or zeolite ((FeCl2 (0.002 mg/l)(A), FeCl2+zeolite (0.002 mg/l+1 gr/l) (B), zeolite (1 gr/l) (C) and control (without FeCl2 and/or zeolite (D)). for 28 days and their oxidative stress responses were investigated. At the end of the treatment period, Glucose-6- phosphate dehydrogenase (G6PD) activity was determined in the samples taken from livers. G6PD values for liver tissues were found statistically important in the control and treatment groups (p<0.01).

  6. 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. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Triagem neonatal de deficiência de glicose-6-fosfato desidrogenase e prevalência das mutações G202A (G6PD A-) e C563T (G6PD Mediterrâneo) em Mato Grosso/Brasil

    OpenAIRE

    Maria de Fatima de Carvalho Ferreira

    2014-01-01

    Objetivos: A deficiência de glicose-6-fosfato desidrogenase (G6PD) está associada a um maior risco de encefalopatia bilirrubínica e de crise hemolítica aguda grave desencadeada por drogas como a primaquina e a dapsona. Conhecer a prevalência dessa deficiência enzimática em área onde a malária e a hanseníase ainda estão presentes e conhecer a prevalência das principais mutações traz subsídios para planejamento de estratégias com vistas à redução de riscos associados a esta deficiência enzimáti...

  8. Burden of Hemoglobinopathies (Thalassemia, Sickle Cell Disorders and G6PD Deficiency) in Iran, 1990-2010: findings from the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Rezaei, Nazila; Naderimagham, Shohreh; Ghasemian, Anoosheh; Saeedi Moghaddam, Sahar; Gohari, Kimia; Zareiy, Saeid; Sobhani, Sahar; Modirian, Mitra; Kompani, Farzad

    2015-08-01

    Hemoglobinopathies are known as the most common genetic disorders in Iran. The paper aims to provide global estimates of deaths and disability adjusted life years (DALYs) due to hemoglobinopathies in Iran by sex and age during 1990 to 2010 and describe the challenges due to limitations of the Global Burden of Disease Study 2010 (GBD 2010). GBD 2010 estimates of the numbers of deaths and years of life lost (YLLs) due to premature mortality were calculated using the Cause of Death Ensemble model (CODEm). Years of life lost due to disability (YLDs) were computed by multiplication of prevalence, the disability weight for occurrence of sequelae, and the duration of symptoms. Prevalence was estimated through a systematic search of published and available unpublished data sources, with a Bayesian meta-regression model developed for GBD 2010. Disability weights were produced using collected data from population-based surveys. Uncertainty from all inputs was incorporated into the computations of DALYs using simulation methods. We aim to prepare and criticize the results of GBD 2010 and provide some recommendations for reaching better conclusions about the burden of hemoglobinopathies in Iran. Between 1990 and 2010, the overall deaths attributed to hemoglobinopathies decreased from 0.51% to 0.36% of total deaths, with the corresponding burden declining from 1% to 0.82% of total DALYs. There was a reduction in deaths and DALYs rates for all ages and the rates attributed to all ages followed the same pattern in Iranian men and women. The highest DALYs for hemoglobinopathies, thalassemia, sickle cell disorder, and glucose-6-phosphate dehydrogenase deficiency (G6PD-D) were found in those aged less than 5 years. The collective burden of all of these hemoglobin disorder was lower in 2010 than in 1990. Although the screening programs in Iran have been very successful in reducing the number of thalassemia patients between 1990 to 2010, in order to provide a better estimation of the

  9. High-Throughput, Multiplex Genotyping Directly from Blood or Dried Blood Spot without DNA Extraction for the Screening of Multiple G6PD Gene Variants at Risk for Drug-Induced Hemolysis.

    Science.gov (United States)

    Tian, Xiaoyi; Zhou, Jun; Zhao, Ye; Cheng, Zhibin; Song, Wenqi; Sun, Yu; Sun, Xiaodong; Zheng, Zhi

    2017-09-01

    Clinical or epidemiologic screening of single-nucleotide polymorphism markers requires large-scale multiplexed genotyping. Available genotyping tools require DNA extraction and multiplex PCR, which may limit throughput and suffer amplification bias. Herein, a novel genotyping approach has been developed, multiplex extension and ligation-based probe amplification (MELPA), which eliminates DNA extraction and achieves uniform PCR amplification. MELPA lyses blood or dried blood spot and directly captures specific target DNA to 96-well plates using tailed probes. Subsequent enzymatic extension and ligation form target single-nucleotide polymorphism-spanning single-stranded templates, which are PCR-amplified using universal primers. Multiplexed genotyping by single-base primer extension is analyzed by mass spectrometry, with a call rate >97%. MELPA was compared with a commercial assay (iPLEX) for detecting 24 G6PD variants known to be at risk for primaquine-induced hemolysis. MELPA provided results that were more reliable than iPLEX, with higher throughput and lower cost. Genotyping archival blood from 106 malaria patients taking primaquine found 10 G6PD-deficient variants, including 1 patient with a hemizygous Mahidol mutation who had hemolysis. Preemptive G6PD genotyping of 438 dried blood spots from a malaria-endemic area identified three variants. MELPA also enabled pooled genotyping without diluting rare alleles, in which undesired common-allele background increased by sample pooling can be repressed by adding specific common allele blockers. Thus, MELPA represents a high-throughput, cost-effective approach to targeted genotyping at the population level. Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  10. Co-ordinated stage-dependent enhancement of Plasmodium falciparum antioxidant enzymes and heat shock protein expression in parasites growing in oxidatively stressed or G6PD-deficient red blood cells

    Directory of Open Access Journals (Sweden)

    Müller Sylke

    2009-05-01

    Full Text Available Abstract Background Plasmodium falciparum-parasitized red blood cells (RBCs are equipped with protective antioxidant enzymes and heat shock proteins (HSPs. The latter are only considered to protect against thermal stress. Important issues are poorly explored: first, it is insufficiently known how both systems are expressed in relation to the parasite developmental stage; secondly, it is unknown whether P. falciparum HSPs are redox-responsive, in view of redox sensitivity of HSP in eukaryotic cells; thirdly, it is poorly known how the antioxidant defense machinery would respond to increased oxidative stress or inhibited antioxidant defense. Those issues are interesting as several antimalarials increase the oxidative stress or block antioxidant defense in the parasitized RBC. In addition, numerous inhibitors of HSPs are currently developed for cancer therapy and might be tested as anti-malarials. Thus, the joint disruption of the parasite antioxidant enzymes/HSP system would interfere with parasite growth and open new perspectives for anti-malaria therapy. Methods Stage-dependent mRNA expression of ten representative P. falciparum antioxidant enzymes and hsp60/70–2/70–3/75/90 was studied by quantitative real-time RT-PCR in parasites growing in normal RBCs, in RBCs oxidatively-stressed by moderate H2O2 generation and in G6PD-deficient RBCs. Protein expression of antioxidant enzymes was assayed by Western blotting. The pentosephosphate-pathway flux was measured in isolated parasites after Sendai-virus lysis of RBC membrane. Results In parasites growing in normal RBCs, mRNA expression of antioxidant enzymes and HSPs displayed co-ordinated stage-dependent modulation, being low at ring, highest at early trophozoite and again very low at schizont stage. Additional exogenous oxidative stress or growth in antioxidant blunted G6PD-deficient RBCs indicated remarkable flexibility of both systems, manifested by enhanced, co-ordinated mRNA expression of

  11. Co-ordinated stage-dependent enhancement of Plasmodium falciparum antioxidant enzymes and heat shock protein expression in parasites growing in oxidatively stressed or G6PD-deficient red blood cells.

    Science.gov (United States)

    Akide-Ndunge, Oscar Bate; Tambini, Elisa; Giribaldi, Giuliana; McMillan, Paul J; Müller, Sylke; Arese, Paolo; Turrini, Francesco

    2009-05-29

    Plasmodium falciparum-parasitized red blood cells (RBCs) are equipped with protective antioxidant enzymes and heat shock proteins (HSPs). The latter are only considered to protect against thermal stress. Important issues are poorly explored: first, it is insufficiently known how both systems are expressed in relation to the parasite developmental stage; secondly, it is unknown whether P. falciparum HSPs are redox-responsive, in view of redox sensitivity of HSP in eukaryotic cells; thirdly, it is poorly known how the antioxidant defense machinery would respond to increased oxidative stress or inhibited antioxidant defense. Those issues are interesting as several antimalarials increase the oxidative stress or block antioxidant defense in the parasitized RBC. In addition, numerous inhibitors of HSPs are currently developed for cancer therapy and might be tested as anti-malarials. Thus, the joint disruption of the parasite antioxidant enzymes/HSP system would interfere with parasite growth and open new perspectives for anti-malaria therapy. Stage-dependent mRNA expression of ten representative P. falciparum antioxidant enzymes and hsp60/70-2/70-3/75/90 was studied by quantitative real-time RT-PCR in parasites growing in normal RBCs, in RBCs oxidatively-stressed by moderate H2O2 generation and in G6PD-deficient RBCs. Protein expression of antioxidant enzymes was assayed by Western blotting. The pentosephosphate-pathway flux was measured in isolated parasites after Sendai-virus lysis of RBC membrane. In parasites growing in normal RBCs, mRNA expression of antioxidant enzymes and HSPs displayed co-ordinated stage-dependent modulation, being low at ring, highest at early trophozoite and again very low at schizont stage. Additional exogenous oxidative stress or growth in antioxidant blunted G6PD-deficient RBCs indicated remarkable flexibility of both systems, manifested by enhanced, co-ordinated mRNA expression of antioxidant enzymes and HSPs. Protein expression of

  12. Data mining and pathway analysis of glucose-6-phosphate dehydrogenase with natural language processing

    Science.gov (United States)

    Chen, Long; Zhang, Chunhua; Wang, Yanling; Li, Yuqian; Han, Qiaoqiao; Yang, Huixin; Zhu, Yuechun

    2017-01-01

    Human glucose-6-phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and serves an important role in biosynthesis and the redox balance. G6PD deficiency is a major cause of neonatal jaundice and acute hemolyticanemia, and recently, G6PD has been associated with diseases including inflammation and cancer. The aim of the present study was to conduct a search of the National Center for Biotechnology Information PubMed library for articles discussing G6PD. Genes that were identified to be associated with G6PD were recorded, and the frequency at which each gene appeared was calculated. Gene ontology (GO), pathway and network analyses were then performed. A total of 98 G6PD-associated genes and 33 microRNAs (miRNAs) that potentially regulate G6PD were identified. The 98 G6PD-associated genes were then sub-classified into three functional groups by GO analysis, followed by analysis of function, pathway, network, and disease association. Out of the 47 signaling pathways identified, seven were significantly correlated with G6PD-associated genes. At least two out of four independent programs identified the 33 miRNAs that were predicted to target G6PD. miR-1207-5P, miR-1 and miR-125a-5p were predicted by all four software programs to target G6PD. The results of the present study revealed that dysregulation of G6PD was associated with cancer, autoimmune diseases, and oxidative stress-induced disorders. These results revealed the potential roles of G6PD-regulated signaling and metabolic pathways in the etiology of these diseases. PMID:28627690

  13. Glucose-6-phosphate dehydrogenase deficiency and the risk of malaria: A meta-analysis and trial sequential analysis

    Science.gov (United States)

    Sun, Fengmei; Zhang, Juan; Pu, Yuepu

    2017-10-01

    This study is designed to perform a meta-analysis and trial sequential analysis (TSA) to investigate whether people with G6PD deficiency suffered less malarial infection. We searched from PubMed, Science Direct, Springer Link, CNKI, and Wan Fang databases for case-control study, cohort study or cross section study until April 2017. TSA was used to determine the state of evidence and calculate the required sample size. Eight case-control studies and five cross-sectional studies (30,683participants) were included in this meta-analysis. Compared with normal control group, we found significant protection from severe malaria (OR 0.644, 95% CI [0.493-0.842]; P=0.001) among people with decreasing G6PD activity. People with variations of G6PD gene at nucleotide 202(G6PD A-) were also found to be associated with resistance on severe malaria pooled (OR 0.851, 95% CI [0.779-0.930]; P =0.0001). Sex-stratified test suggested that protection of severe malaria is conferred to both G6PD A-males and heterozygous females (with a single copy of the variant). In conclusion, our study found a significant protection from severe malaria among G6PD deficient people compared to the

  14. Analysis of USAREUR Family Housing.

    Science.gov (United States)

    1985-04-01

    Standard Installation/Division Personnel System SJA ................ Staff Judge Advocate SPSS ............... Statistical Package for the...for Projecting Family Housing Requirements. a. Attempts to define USAREUR’s programmable family housing deficit Sbased on the FHS have caused anguish ...responses using the Statistical Package for the Social Sciences ( SPSS ) computer program. E-2 ANNEX E RESPONSE TO ESC HOUSING QUESTIONNAIRE Section Page I

  15. Methaemoglobinaemia in a G6PD-deficient child treated with rasburicase

    OpenAIRE

    Bontant, Thomas; Le Garrec, Sophie; Avran, David; Dauger, Stephane

    2014-01-01

    A 5-year-old boy from the Congo, was admitted for hyperleucocytic acute lymphoblastic leukaemia, with a high risk of tumour lysis syndrome (TLS). He had splenomegaly and mediastinal lymphadenopathy on chest X-ray. We started steroids and hyperhydration with rasburicase to prevent TLS. Respiratory failure with mediastinal enlargement developed rapidly. A few hours after intensive care unit (ICU) admission, he was started on mechanical ventilation. Chemotherapy was started immediately given the...

  16. Central Nervous System Symptoms Due to Transient Methemoglobinemia in a Child With G6PD Deficiency.

    Science.gov (United States)

    Sharma, Shreya; Srinivasaraghavan, Rangan; Krishnamurthy, Sriram

    2017-01-01

    The authors herein report a 5-year-old child who presented with massive hemolysis, irritability, and cyanosis. The final diagnosis was glucose-6-phosphate dehydrogenase deficiency with associated central nervous system symptoms probably because of concomitantly acquired methemoglobinemia following oxidant drug exposure. The associated acute-onset anemia would have contributed to the development of cerebral anoxia-related seizures and encephalopathy.

  17. Common mutations in G6PD of Vietnamese-Kinh deficient patients

    African Journals Online (AJOL)

    DANG THI LAN ANH

    2013-03-20

    Mar 20, 2013 ... (2009) found out six mutations in Kinh and Stieng's ethnics population by ... 6. P. D e n z y m e a c tiv ity. (IU. /g. Hb. ) Figure 1. Distribution of patients within the enzyme activity level. step lysis method. This method was improved from method of. Chaimosit ... sent to Sigma Aldrich- Singapore for synthesis.

  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. 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…

  20. 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…

  1. 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

  2. Family conference in palliative care: concept analysis.

    Science.gov (United States)

    Silva, Rudval Souza da; Trindade, Géssica Sodré Sampaio; Paixão, Gilvânia Patrícia do Nascimento; Silva, Maria Júlia Paes da

    2018-01-01

    to analyze the attributes, antecedents and consequents of the family conference concept. Walker and Avante's method for concept analysis and the stages of the integrative review process, with a selection of publications in the PubMed, Cinahl and Lilacs databases focusing on the family conference theme in the context of palliative care. the most cited antecedents were the presence of doubts and the need to define a care plan. Family reunion and working instrument were evidenced as attributes. With respect to consequents, to promote the effective communication and to establish a plan of consensual action were the most remarkable elements. the scarcity of publications on the subject was observed, as well as and the limitation of the empirical studies to the space of intensive therapy. Thus, by analyzing the attributes, antecedents and consequents of the concept it was possible to follow their evolution and to show their efficacy and effectiveness as a therapeutic intervention.

  3. 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,…

  4. 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-6...

  5. Point-of-care G6PD diagnostics for Plasmodium vivax malaria is a clinical and public health urgency

    OpenAIRE

    Baird, J. Kevin

    2015-01-01

    Malaria caused by Plasmodium vivax threatens over 2 billion people globally and sickens tens of millions annually. Recent clinical evidence discredits the long-held notion of this infection as intrinsically benign revealing an often threatening course associated with mortality. Most acute attacks by this species derive from latent forms in the human liver called hypnozoites. Radical cure for P. vivax malaria includes therapy aimed both at the acute attack (blood schizontocidal) and against fu...

  6. Obesogenic family types identified through latent profile analysis.

    Science.gov (United States)

    Martinson, Brian C; VazquezBenitez, Gabriela; Patnode, Carrie D; Hearst, Mary O; Sherwood, Nancy E; Parker, Emily D; Sirard, John; Pasch, Keryn E; Lytle, Leslie

    2011-10-01

    Obesity may cluster in families due to shared physical and social environments. This study aims to identify family typologies of obesity risk based on family environments. Using 2007-2008 data from 706 parent/youth dyads in Minnesota, we applied latent profile analysis and general linear models to evaluate associations between family typologies and body mass index (BMI) of youth and parents. Three typologies described most families with 18.8% "Unenriched/Obesogenic," 16.9% "Risky Consumer," and 64.3% "Healthy Consumer/Salutogenic." After adjustment for demographic and socioeconomic factors, parent BMI and youth BMI Z-scores were higher in unenriched/obesogenic families (BMI difference = 2.7, p typology. In contrast, parent BMI and youth BMI Z-scores were similar in the risky consumer families relative to those in healthy consumer/salutogenic type. We can identify family types differing in obesity risks with implications for public health interventions.

  7. 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.

  8. Genomewide analysis of TCP transcription factor gene family in ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 93; Issue 3. Genomewide ... Teosinte branched1/cycloidea/proliferating cell factor1 (TCP) proteins are a large family of transcriptional regulators in angiosperms. They are ... To the best of our knowledge, this is the first study of a genomewide analysis of apple TCP gene family.

  9. Genetic analysis of a consanguineous Pakistani family with Leber ...

    Indian Academy of Sciences (India)

    2014-08-01

    Aug 1, 2014 ... RESEARCH NOTE. Genetic analysis of a consanguineous Pakistani family with Leber .... representation of the deleterious mutation at genomic and protein level. ... In the last couple of years, numerous mutations in. GUCY2D ...

  10. 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.

  11. Multifractal analysis of Moroccan family business stock returns

    Science.gov (United States)

    Lahmiri, Salim

    2017-11-01

    In this paper, long-range temporal correlations at different scales in Moroccan family business stock returns are investigated. For comparison purpose, presence of multifractality is also investigated in Casablanca Stock Exchange (CSE) major indices: MASI which is the all shares index and MADEX which is the index of most liquid shares. It is found that return series of both family business companies and major stock market indices show strong evidence of multifractality. In particular, empirical results reveal that short (long) fluctuations in family business stock returns are less (more) persistent (anti-persistent) than short fluctuations in market indices. In addition, both serial correlation and distribution characteristics significantly influence the strength of the multifractal spectrums of CSE and family business stocks returns. Furthermore, results from multifractal spectrum analysis suggest that family business stocks are less risky. Thus, such differences in price dynamics could be exploited by investors and forecasters in active portfolio management.

  12. 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.

  13. Ratio analysis specifics of the family dairies' financial statements

    Directory of Open Access Journals (Sweden)

    Mitrović Aleksandra

    2015-01-01

    Full Text Available The subject of this paper is the evaluation of the financial analysis specifics of the dairy enterprises with a focus on the implementation of the ratio analysis of financial statements. The ratio analysis is a central part of financial analysis, since it is based on investigating the relationship between logically related items in the financial statements to assess the financial position of the observed enterprise and its earning capacity. Speaking about the reporting of financial performance in family dairies, the basis is created for displaying techniques of financial analysis, with a special indication on the specifics of their application in agricultural enterprises focusing on companies engaged in dairying. Applied in the paper is ratio analysis on the example of a dairy enterprise, i.e. a family dairy operating in Serbia. The ratio indicators are the basis for identifying relationships based on which by comparing the actual performance and certain business standards differences or variations are identified.

  14. Family and delinquency: Textbooks analysis of family influence on the juvenile delinquency

    Directory of Open Access Journals (Sweden)

    Ljubičić Milana

    2012-01-01

    Full Text Available In this paper we are dealing with analysis of the typology of crime causes, with particular reference to the position of the family in the etiology of juvenile delinquency. Our intention was to, by using the so-called mixed content analysis of criminology textbooks; determine the topics of crime patterns, and the typical family characteristics of juveniles pushed into delinquency. On the other hand, the need to consider the influence of the ideas presented by some textbooks authors to their followers appeared to be of particularly importance in a longitudinal perspective. Analysed were 22 textbooks published between 1945-2010 in the former SFR of Yugoslavia and also the Republics that emerged after disintegration of the SFRY. The analysis showed that the significant number of textbooks follow identical pattern of etiological factors which reflects mutual influence of authors on one another. Also, considering the causes juvenile delinquency we noticed that the family takes up a special position. In addition, families of delinquents, regardless of the name under which it is recognized and almost without exception, carry a socially unacceptable ‘degraded’ character. These findings have opened a number of issues related to certain aspects of the scientific base for the existing typologies (e.g., objectivity and verifiability, and the implications that ‘scientific image’ has had on the practical involvement of experts whose professions require knowledge of criminology.

  15. 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…

  16. Genomewide analysis of TCP transcription factor gene family in ...

    Indian Academy of Sciences (India)

    2014-12-09

    Dec 9, 2014 ... study of a genomewide analysis of apple TCP gene family. These results provide .... synthesize the first-strand cDNA using the PrimeScript First. Strand cDNA ..... only detected in the stem, leaf and fruit (figure 8). When.

  17. Why Is Family Firms' Internationalization Unique? : A Meta-Analysis

    NARCIS (Netherlands)

    Arregle, Jean-Luc; Duran, Patricio; Hitt, Michael A.; van Essen, M.

    Despite its importance, there is no clear understanding of the uniqueness of family firms' internationalization. This article sheds new light on this issue with a meta-analysis of 76 studies covering 41 countries. We show that the considerable study and cross-country differences in the relationship

  18. 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,…

  19. Gender Mainstreaming and Work-Family Reconciliation. An Analysis of Family Policies in Romania and Germany

    Directory of Open Access Journals (Sweden)

    Oana Crușmac

    2016-12-01

    Full Text Available Gender Mainstreaming (GM was introduced by the European Union (EU in 1997, as a strategy to achieve gender equality in all policy areas. Yet, European countries greatly diverge in their progress of implementation. We investigate the role GM played in Romanian and German policies aimed at achieving work-family reconciliation, using concepts from feminist policy analysis. Our analysis shows that pre-existing policies and discourse, the economic situation, as well as the relationship with the EU have shaped and impeded the implementation process of GM in both countries. While Germany slowly moves towards more egalitarian policies, GM as label and strategy did not succeed. In Romania, GM has only impacted work and family reconciliation indirectly through EU legislation.

  20. Parsing the familiality of oppositional defiant disorder from that of conduct disorder: a familial risk analysis.

    Science.gov (United States)

    Petty, Carter R; Monuteaux, Michael C; Mick, Eric; Hughes, Samantha; Small, Jacqueline; Faraone, Stephen V; Biederman, Joseph

    2009-01-01

    Family risk analysis can provide an improved understanding of the association between attention-deficit/hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD), attending to the comorbidity with conduct disorder (CD). We compared rates of psychiatric disorders in relatives of 78 control probands without ODD and CD (Control, N=265), relatives of 10 control probands with ODD and without CD (ODD, N=37), relatives of 19 ADHD probands without ODD and CD (ADHD, N=71), relatives of 38 ADHD probands with ODD and without CD (ADHD+ODD, N=130), and relatives of 50 ADHD probands with ODD and CD (ADHD+ODD+CD, N=170). Rates of ADHD were significantly higher in all three ADHD groups compared to the Control group, while rates of ODD were significantly higher in all three ODD groups compared to the Control group. Evidence for co-segregation was found in the ADHD+ODD group. Rates of mood disorders, anxiety disorders, and addictions in the relatives were significantly elevated only in the ADHD+ODD+CD group. ADHD and ODD are familial disorders, and ADHD plus ODD outside the context of CD may mark a familial subtype of ADHD. ODD and CD confer different familial risks, providing further support for the hypothesis that ODD and CD are separate disorders.

  1. Family Functioning and Adolescent Alcohol Use: A Moderated Mediation Analysis

    Science.gov (United States)

    Ohannessian, Christine McCauley; Flannery, Kaitlin M.; Simpson, Emily; Russell, Beth S.

    2016-01-01

    The primary goals of this longitudinal study were to examine the relationship between family functioning and adolescent alcohol use and to examine whether depressed mood mediates this relationship. An additional goal was to explore whether these relations were moderated by gender. The sample included 1,031 high school students from the Mid-Atlantic United States. Participants completed surveys in school during the spring of 2007, 2008, and 2009. Path analysis results indicated that family functioning predicted alcohol use for girls. Moreover, depressed mood mediated this relationship. None of the direct paths between family functioning and adolescent alcohol use were significant for boys. However, similar to girls, depressed mood negatively predicted alcohol use for boys. Taken together, the findings highlight the need for prevention programs targeting adolescent substance use to consider gender-specific trajectories. PMID:26994346

  2. Examining inter-family differences in intra-family (parent-adolescent) dynamics using grid-sequence analysis.

    Science.gov (United States)

    Brinberg, Miriam; Fosco, Gregory M; Ram, Nilam

    2017-12-01

    Family systems theorists have forwarded a set of theoretical principles meant to guide family scientists and practitioners in their conceptualization of patterns of family interaction-intra-family dynamics-that, over time, give rise to family and individual dysfunction and/or adaptation. In this article, we present an analytic approach that merges state space grid methods adapted from the dynamic systems literature with sequence analysis methods adapted from molecular biology into a "grid-sequence" method for studying inter-family differences in intra-family dynamics. Using dyadic data from 86 parent-adolescent dyads who provided up to 21 daily reports about connectedness, we illustrate how grid-sequence analysis can be used to identify a typology of intrafamily dynamics and to inform theory about how specific types of intrafamily dynamics contribute to adolescent behavior problems and family members' mental health. Methodologically, grid-sequence analysis extends the toolbox of techniques for analysis of family experience sampling and daily diary data. Substantively, we identify patterns of family level microdynamics that may serve as new markers of risk/protective factors and potential points for intervention in families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  3. A phylogenetic analysis of rissooidean and cingulopsoidean families (Gastropoda: Caenogastropoda).

    Science.gov (United States)

    Criscione, Francesco; Ponder, Winston Frank

    2013-03-01

    The Rissooidea is one of the largest and most diverse molluscan superfamilies, with 23 recognized Recent families including marine, freshwater and terrestrial members. The Cingulopsoidea are a group of three marine families previously included within the Rissooidea. A previous molecular analysis including two rissooideans and one cingulopsoidean, indicated the possibility that the Rissooidea is at least diphyletic. We use new molecular data to investigate the polyphyly of Rissooidea and test the monophyly of Cingulopsoidea with a greatly increased taxon set. This study includes the greatest sampling to date with 43 species of 14 families of Rissooidea and all families of Cingulopsoidea. Bayesian and maximum likelihood analyses of 16S and 28S show that there are two major clades encompassing taxa previously included in Rissooidea. These are the Rissooidea s.s. containing Rissoidae and Barleeiidae and the Truncatelloidea containing Anabathridae, Assimineidae, Falsicingulidae, Truncatellidae, Pomatiopsidae, Hydrobiidae s.l., Hydrococcidae, Stenothyridae, Calopiidae, Clenchiellidae, Caecidae, Tornidae, and Iravadiidae. Rissoidae is not monophyletic, with Lironoba grouping with Emblanda (Emblandidae) and Rissoina forming a separate clade with Barleeiidae. Iravadiidae is not monophyletic, with Nozeba being sister to the Tornidae. Tatea, usually included within Hydrobiidae, is distinct from that family and Nodulus, previously included in Anabathridae, groups with the hydrobiids. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

    Science.gov (United States)

    Huang, Xiao-Yan; Zhuang, Hong; Wu, Ji-Hong; Li, Jian-Kang; Hu, Fang-Yuan; Zheng, Yu; Tellier, Laurent Christian Asker M.; Zhang, Sheng-Hai; Gao, Feng-Juan; Zhang, Jian-Guo

    2017-01-01

    Purpose Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. Methods To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR). Results Of the cohort of ten FEVR families, six pathogenic variants were identified, including four novel and two known heterozygous mutations. Of the variants identified, four were missense variants, and two were novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del]. The two novel heterozygous deletion mutations were not observed in the control subjects and could give rise to a relatively severe FEVR phenotype, which could be explained by the protein function prediction. Conclusions We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for FEVR. These genetic deletion variations exhibit a severe form of FEVR, with tractional retinal detachments compared with other known point mutations. The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype–phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling. PMID:28867931

  5. A cost analysis of family planning in Bangladesh.

    Science.gov (United States)

    Fiedler, J L; Day, L M

    1997-01-01

    This article presents a step-down cost analysis using secondary data sources from 26 Bangladesh non-government organizations (NGOs) providing family planning services under a US Agency for International Development-funded umbrella organization. The unit costs of the NGOs' Maternal-Child Health (MCH) clinics and community-based distribution (CBD) systems were calculated and found to be minimally different. Several simulations were conducted to investigate the impact of alternative cost-reduction measures. The more general financial analysis proved more insightful than the unit cost analysis in terms of identifying means by which to improve the efficiency of the family planning operations of these NGOs. The analysis revealed that 56 per cent of total expenditures in the two-tiered umbrella's organizational structure are incurred in management operations and overheads. Of the remaining 44 per cent of project expenditures, 39 per cent is spent on the CBD program and 5 per cent on the MCH clinics. Within the CBD program, most resources are spent providing 4 million contacts (two-thirds of the annual total) which do not involve contraceptive re-supply. The clinics devote more resources to providing MCH services than to providing family planning services. The findings suggest that significant savings could be generated by containing administrative costs, improving operational efficiency, and reducing unnecessary or redundant fieldworker contacts. The magnitude of the potential savings raises a fundamental question about the continued viability and sustainability of this supply-driven CBD strategy.

  6. Do family CEOs impact firm value? An empirical analysis of Indian family firms

    Directory of Open Access Journals (Sweden)

    Lakshmi Kalyanaraman

    2015-01-01

    Full Text Available We study the association between family CEO and firm value on a sample of 288 family firms during the 6-year period, from 2009 to 2014. The sample is drawn from domestic private companies belonging to non-financial services sector included in the NSE CNX 500 index. We find that family CEO has no significant association with firm value, when the family is not the majority shareholder. Family shareholding has positive relationship with firm value, but does not moderate the relationship of family CEO with firm value. We show that family CEO and firm value are negatively related when the family does not hold majority equity stake in the family firm. While family shareholding has no significant relationship with firm value, it has a negative interaction effect on the relationship between family CEO and firm value. The research findings have important implications for family firms as well as the nonfamily investors in the family firms.

  7. Market Segmentation and Conjoint Analysis for Apple Family Design

    OpenAIRE

    Abbas Al-Refaie; Nour Bata

    2016-01-01

    A distributor of Apple products' experiences numerous difficulties in developing marketing strategies for new and existing mobile product entries that maximize customer satisfaction and the firm's profitability. This research, therefore, integrates market segmentation in platform-based product family design and conjoint analysis to identify iSystem combinations that increase customer satisfaction and business profits. First, the enhanced market segmentation grid is created. Then, the estimate...

  8. An analysis of a typology of family health nursing practice.

    Science.gov (United States)

    Macduff, Colin

    2006-01-01

    In this article, Colin Macduff analyses the construction and testing of a typology of family health nursing practice. Following a summary of relevant methods and findings from two linked empirical research studies, more detailed analysis of the conceptual foundations, nature and purpose of the typology is presented. This process serves to exemplify and address some of the issues highlighted in the associated article that reviews the use of typologies within nursing.

  9. Single-Family Energy Auditor Job Task Analysis

    Energy Technology Data Exchange (ETDEWEB)

    Head, Heather R [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Kurnik, Charles W [National Renewable Energy Laboratory (NREL), Golden, CO (United States)

    2018-05-02

    The National Renewable Energy Laboratory (NREL) is contracted by the U.S. Department of Energy (DOE) Weatherization Assistance Program (WAP) to develop and maintain the resources under the Guidelines for Home Energy Professionals (GHEP) project. As part of the GHEP strategy to increase the quality of work conducted for single-family, residential energy-efficiency retrofits, the Home Energy Professionals Job Task Analysis are used as the foundation for quality training programs and trainers.

  10. Transforming Parent-Child Interaction in Family Routines: Longitudinal Analysis with Families of Children with Developmental Disabilities.

    Science.gov (United States)

    Lucyshyn, Joseph M; Fossett, Brenda; Bakeman, Roger; Cheremshynski, Christy; Miller, Lynn; Lohrmann, Sharon; Binnendyk, Lauren; Khan, Sophia; Chinn, Stephen; Kwon, Samantha; Irvin, Larry K

    2015-12-01

    The efficacy and consequential validity of an ecological approach to behavioral intervention with families of children with developmental disabilities was examined. The approach aimed to transform coercive into constructive parent-child interaction in family routines. Ten families participated, including 10 mothers and fathers and 10 children 3-8 years old with developmental disabilities. Thirty-six family routines were selected (2 to 4 per family). Dependent measures included child problem behavior, routine steps completed, and coercive and constructive parent-child interaction. For each family, a single case, multiple baseline design was employed with three phases: baseline, intervention, and follow-up. Visual analysis evaluated the functional relation between intervention and improvements in child behavior and routine participation. Nonparametric tests across families evaluated the statistical significance of these improvements. Sequential analyses within families and univariate analyses across families examined changes from baseline to intervention in the percentage and odds ratio of coercive and constructive parent-child interaction. Multiple baseline results documented functional or basic effects for 8 of 10 families. Nonparametric tests showed these changes to be significant. Follow-up showed durability at 11 to 24 months postintervention. Sequential analyses documented the transformation of coercive into constructive processes for 9 of 10 families. Univariate analyses across families showed significant improvements in 2- and 4-step coercive and constructive processes but not in odds ratio. Results offer evidence of the efficacy of the approach and consequential validity of the ecological unit of analysis, parent-child interaction in family routines. Future studies should improve efficiency, and outcomes for families experiencing family systems challenges.

  11. Systematic analysis of γ-ray families, 1

    International Nuclear Information System (INIS)

    Semba, Hiroshi

    1984-01-01

    Atmospheric nuclear interactions caused by cosmic rays are observed in the Chacaltaya emulsion chamber experiment. A systematic analysis is made on 106 events (γ-ray families) with visible energy in the range of 100 - 300 TeV. A new method called 'decascading' is introduced to pick up a cluster of γ-rays and electrons in a family, so that the cluster is an air cascade from one parent γ-ray. The application of 'decascading' method to the family data gives information on original γ-rays produced at the atmospheric interactions. The results are compared with data from the traget interactions at lower energy range ΣEsub(γ)=20 - 100 TeV). The conclusion is that the characteristics of nuclear interactions at the concerned family energy range (E deg approximately equal to 1,000 TeV) are in accordance with those at the target interaction range (E deg approximately equal to 100 TeV), with increased ratio of frequencies of a heavy fire-ball (SH-quantum) to a small and usual fire-ball (H-quantum). (author)

  12. 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…

  13. The pattern analysis of family business succession : a study on medium scale family business in Indonesia

    OpenAIRE

    Utami, Christina Whidya; Bernardus, Denny; Sintha, Gek

    2017-01-01

    The family business is a business family members have developed, whose ownership and policy-making are dominated by members of a group with emotional kinship. The purpose of this study is to analyze whether the management succession patterns including a personality system, a family system, a ownership right system and a management system become the primary factors determining the success of the family business The results of the study, using Partial Least Square showed Family System var...

  14. U.S. Families' Adoption of Chinese Daughters: A Narrative Analysis of Family Themes in Children's Books

    Science.gov (United States)

    Fitzpatrick, Jacki; Kostina-Ritchey, Erin

    2013-01-01

    The purpose of this qualitative study was to examine the ways in which family formation processes were presented in international children's adoption books. Guided by Pinderhughes' (1996) adoptive family development model, we conducted a content analysis for the representation of two developmental phases (anticipation and accommodation). A total…

  15. Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency

    NARCIS (Netherlands)

    Gurbuz, Nilgun; Aksu, Tevfik Aslan; van Noorden, Cornelis J. F.

    2005-01-01

    The aim of this study was to diagnose heterozygous glucose-6-phosphate dehydrogenase (G6PD) deficient females by an inexpensive cytochemical G6PD staining method that is easy to perform, allowing diagnosis of G6PD deficiency without cumbersome genetic analysis. Three subject groups were included in

  16. Practical analysis of specificity-determining residues in protein families.

    Science.gov (United States)

    Chagoyen, Mónica; García-Martín, Juan A; Pazos, Florencio

    2016-03-01

    Determining the residues that are important for the molecular activity of a protein is a topic of broad interest in biomedicine and biotechnology. This knowledge can help understanding the protein's molecular mechanism as well as to fine-tune its natural function eventually with biotechnological or therapeutic implications. Some of the protein residues are essential for the function common to all members of a family of proteins, while others explain the particular specificities of certain subfamilies (like binding on different substrates or cofactors and distinct binding affinities). Owing to the difficulty in experimentally determining them, a number of computational methods were developed to detect these functional residues, generally known as 'specificity-determining positions' (or SDPs), from a collection of homologous protein sequences. These methods are mature enough for being routinely used by molecular biologists in directing experiments aimed at getting insight into the functional specificity of a family of proteins and eventually modifying it. In this review, we summarize some of the recent discoveries achieved through SDP computational identification in a number of relevant protein families, as well as the main approaches and software tools available to perform this type of analysis. © The Author 2015. Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  17. Analysis of suffering at work in Family Health Support Centers.

    Science.gov (United States)

    Nascimento, Débora Dupas Gonçalves do; Oliveira, Maria Amélia de Campos

    2016-01-01

    Analyzing the work process in the Family Health Support Center. An exploratory, descriptive case study using a qualitative approach. Focus groups were conducted with 20 workers of a Family Health Support Center, and the empirical material was subjected to content analysis technique and analyzed in light of Work Psychodynamics. The category of suffering is presented herein as arising from the dialectical contradiction between actual work and prescribed work, from resistance to the Family Health Support Center's proposal and a lack of understanding of their role; due to an immediatist and curative culture of the users and the Family Health Strategy; of the profile, overload and identification with work. The dialectical contradiction between expectations from Family Health Strategy teams and the work in the Family Health Support Center compromises its execution and creates suffering for workers. Analisar o processo de trabalho no Núcleo de Apoio à Saúde da Família. Estudo de caso exploratório, descritivo e de abordagem qualitativa. Grupos focais foram realizados com 20 trabalhadores do Núcleo de Apoio à Saúde da Família, o material empírico foi submetido à técnica de análise de conteúdo e analisado à luz da Psicodinâmica do Trabalho. Apresenta-se aqui a categoria sofrimento que neste estudo decorre da contradição dialética entre o trabalho real e o trabalho prescrito, da resistência à proposta do Núcleo de Apoio à Saúde da Família e da falta de compreensão de seu papel; da cultura imediatista e curativa do usuário e da Estratégia Saúde da Família; do perfil, sobrecarga e identificação com o trabalho. A contradição dialética entre expectativas das equipes da Estratégia Saúde da Família e o trabalho no Núcleo de Apoio à Saúde da Família compromete sua efetivação e gera sofrimento aos trabalhadores.

  18. Factorial moment and fractal analysis of γ families

    International Nuclear Information System (INIS)

    Kalmakhelidze, M.Eh.; Roinishvili, N.N.; Svanidze, M.S.; Khizanishvili, L.A.; Chadranyan, L.Kh.

    1997-01-01

    Factorial and fractal methods were applied to nuclear-electromagnetic cascades in the atmosphere (γ families) to find sensitivity of these methods to multiparticle fluctuations in γ families. Averaged parameters of factorial and fractal methods of the real families were compared with the same quantities for the statistical set of random families. The correlations between the same parameters for families divided into sectors and into rings are studied. The correlations between different parameters for the same families divided into sectors are investigated

  19. The ‘Blame Game’: Discourse Analysis of Family Members’ and Therapist Negotiation of Problem Definition in Systemic Family Therapy

    Directory of Open Access Journals (Sweden)

    Pinelopi Patrika

    2016-03-01

    Full Text Available The present article aims at shedding light to the complex ways in which blame and responsibility are negotiated, when family members and the therapist engage in problem definition talk in systemic family therapy. The article draws from a qualitative research study which was designed to explore problem talk in systemic family therapy by means of discourse analysis methodology. Nine videotaped initial systemic family therapy sessions in which four different therapists and six different families with a variety of reported difficulties were sampled. They were transcribed verbatim and subjected to micro-analysis by means of the Discursive Action Model. In the present article, we present the detailed analysis of one of the identified patterns of blame allocation, in which family members are shown to construct the identified patient’s deviation from normality as the cause of their difficulties while the therapist is shown to attempt to exonerate blame from the identified patient by means of positive connotation. We discuss the implications of our analysis for theory development and clinical practice in the field, in the context of a growing body of related research. We also hint to the potential of discourse analysis methodology for family therapy research.

  20. Observed Family Interactions among Subtypes of Eating Disorders Using Structural Analysis of Social Behavior.

    Science.gov (United States)

    Humphrey, Laura Lynn

    1989-01-01

    Compared observations of family interactions among anorexic, bulimic-anorexic, bulimic, and normal families (N=74 families) consisting of father, mother, and teenage daughter. Benjamin's structural analysis of social behavior methodology differentiated clinical from normal families. Found unique patterns among subtypes of eating disorders which…

  1. 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.

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

    Directory of Open Access Journals (Sweden)

    Tatjana Crnogorac-Jurcevic

    Full Text Available 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.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.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/therapeutic targets for both familial and sporadic

  3. Glucose-6-phosphate dehydrogenase Lodi844C: a study on its expression in blood cells and muscle.

    Science.gov (United States)

    Ninfali, P; Bresolin, N; Baronciani, L; Fortunato, F; Comi, G; Magnani, M; Scarlato, G

    1991-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in erythrocytes, lymphocytes and muscle of an Italian male, whose family has lived for at least three generations in Lodi (Lombardy, northern Italy). The subject was hospitalized for myalgia and dark urine after intense physical exercise, but no sign of anemia and chronic hemolysis were present at rest. Family studies revealed that the mother and the maternal aunt had the same enzymopathy. The enzyme-specific activity in red blood cells was 15% of control and the kinetic properties were the following: slower electrophoretic mobility; biphasic pH activity curve; slightly reduced thermal stability, and increased utilization of the substrate analogs. The analysis of our patient's DNA showed a G----C mutation at nucleotide 844 which causes an Asp----His amino acid change in position 282. This is the same mutation found by De Vita et al. in the G6PD Seattle-like variant. However, by following a new convention, we labelled our variant as G6PD Lodi844C. As far as the muscle is concerned, we found that the enzyme-specific activity in this tissue was 14% of control values, but cultured myotubes and myoblasts revealed a normal level of G6PD as well as skin fibroblasts. On the contrary in the same type of cultured cells obtained from G6PD Mediterranean subjects, the G6PD activity was about 20% of normal. Our results complete the characterization of this mutant enzyme, demonstrate the expression of the deficit in muscle and describe the enzyme behaviour in cultured cells.

  4. Family history and risk of breast cancer: an analysis accounting for family structure.

    Science.gov (United States)

    Brewer, Hannah R; Jones, Michael E; Schoemaker, Minouk J; Ashworth, Alan; Swerdlow, Anthony J

    2017-08-01

    Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take no account of the size and age-structure of the woman's family. Using data from the Generations Study, a cohort of over 113,000 women from the general UK population, we analyzed breast cancer risk in relation to first-degree family history using a family history score (FHS) that takes account of the expected number of family cases based on the family's age-structure and national cancer incidence rates. Breast cancer risk increased significantly (P trend  history was that combining FHS and age of relative at diagnosis. A family history score based on expected as well as observed breast cancers in a family can give greater risk discrimination on breast cancer incidence than conventional parameters based solely on cases in affected relatives. Our modeling suggests that a yet stronger predictor of risk might be a combination of this score and age at diagnosis in relatives.

  5. Familial cases of Norrie disease detected by copy number analysis.

    Science.gov (United States)

    Arai, Eisuke; Fujimaki, Takuro; Yanagawa, Ai; Fujiki, Keiko; Yokoyama, Toshiyuki; Okumura, Akihisa; Shimizu, Toshiaki; Murakami, Akira

    2014-09-01

    Norrie disease (ND, MIM#310600) is an X-linked disorder characterized by severe vitreoretinal dysplasia at birth. We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes. Three brothers with suspected Norrie disease and their mother presented for clinical examination. After obtaining informed consent, DNA was extracted from the peripheral blood of the proband, one of his brothers and his unaffected mother. Exons 1-3 of the NDP gene were amplified by polymerase chain reaction (PCR), and direct sequencing was performed. Multiplex ligation-dependent probe amplification (MLPA) was also performed to search for copy number variants in the NDP gene. The clinical findings of the three brothers included no light perception, corneal opacity, shallow anterior chamber, leukocoria, total retinal detachment and mental retardation. Exon 2 of the NDP gene was not amplified in the proband and one brother, even when the PCR primers for exon 2 were changed, whereas the other two exons showed no mutations by direct sequencing. MLPA analysis showed deletion of exon 2 of the NDP gene in the proband and one brother, while there was only one copy of exon 2 in the mother. Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. To localize the defect, confirmation of copy number variation by the MLPA method was useful in the present study.

  6. Residential Preferences and Moving Behavior: A Family Life Cycle Analysis.

    Science.gov (United States)

    McAuley, William J.; Nutty, Cheri L.

    The relationship of family life cycle changes to housing preferences and residential mobility is examined. Two residential decision-making issues are explored in detail--how family life cycle stages influence what people view as important to their choice of residential setting and what individuals at different family life cycle stages view as the…

  7. Benfotiamine improves functional recovery of the infarcted heart via activation of pro-survival G6PD/Akt signaling pathway and modulation of neurohormonal response.

    Science.gov (United States)

    Katare, Rajesh; Caporali, Andrea; Emanueli, Costanza; Madeddu, Paolo

    2010-10-01

    Benfotiamine (BFT) is a transketolase activator that directs glucose to the pentose phosphate pathway. The present study investigated whether BFT improves the recovery after myocardial infarction (MI) and explored underlying mechanisms of protection. Non-diabetic and streptozotocin-induced type 1 diabetic mice were supplemented with BFT (70 mg/kg/day in drinking water) for 4 weeks and then subjected to MI or sham operation. Cardiac function was monitored by echocardiography. At two weeks post-MI, intra-ventricular pressure was measured by Millar tip-catheter and hearts were collected for biochemical, immunohistochemical and expressional analyses. No treatment effect was observed in sham-operated mice. Post-MI mortality was higher in diabetic mice and hemodynamic studies confirmed the worsening effect of diabetes on functional recovery. Furthermore, diabetic mice demonstrated increased cardiomyocyte apoptosis, reduced reparative angiogenesis, larger scars, enhanced oxidative stress, and blunted activation of the pro-survival VEGF receptor-2/Akt/Pim-1 signaling pathway. BFT improved post-MI survival, functional recovery and neovascularization and reduced cardiomyocyte apoptosis and neurohormonal activation in diabetic as well as in non-diabetic mice. In addition, BFT stimulated the activity of pentose phosphate pathway enzymes, leading to reduction of oxidative stress, phosphorylation/activation of VEGF receptor-2 and Akt and increased Pim-1, pBad and Bcl-2 levels. These effects were contrasted on silencing glucose-6-phosphate dehydrogenase, the key enzyme in pentose phosphate pathway, or inhibiting Akt. BFT benefits post-MI recovery through stimulation of pro-survival mechanisms and containment of neurohormonal response. These results may have implications for the treatment of myocardial ischemia. Copyright © 2010 Elsevier Ltd. All rights reserved.

  8. 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.

  9. How Older Adults and Their Families Perceive Family Talk about Aging-Related EOL Issues: A Dialectical Analysis.

    Science.gov (United States)

    Egbert, Nichole; Child, Jeffrey T; Lin, Mei-Chen; Savery, Carol; Bosley, Tammy

    2017-04-17

    For older adults, approaching end-of-life (EOL) brings unique transitions related to family relationships. Unfortunately, most families greatly underestimate the need to discuss these difficult issues. For example, parents approaching EOL issues often struggle with receiving assistance from others, avoiding family conflict, and maintaining their sense of personhood. In addition, discussions of EOL issues force family members to face their parents' mortality, which can be particularly difficult for adult children to process emotionally. This study explored aging issues identified by aging parents and their families as they traverse these impending EOL changes. Ten focus groups of seniors ( n = 65) were conducted. Focus groups were organized according to race (African-American/European-American), gender, and whether the older adult was living independently or in an assisted care facility. When asked open-ended questions about discussing aging and EOL issues with family members, participants revealed tensions that led us to consider Relational Dialectics Theory as a framework for analysis. The predominant tension highlighted in this report was certainty versus uncertainty, with the two sub-themes of sustained life versus sustained personhood and confronting versus avoiding EOL issues. For these data, there were more similarities than differences as a result of gender, race, or living situation than one might expect, although culture and financial status were found to be influential in the avoidance of EOL discussions. The results of this study help to provide additional insight into relational dialectics related to aging, EOL, and the importance of communication in facilitating family coping.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

  12. 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.

  13. IDH Mutation Analysis in Ewing Sarcoma Family Tumors

    Directory of Open Access Journals (Sweden)

    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.

  14. Analysis of Family Clinical, vision of service nurses

    Directory of Open Access Journals (Sweden)

    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.

  15. Exome Sequence Analysis of 14 Families With High Myopia

    DEFF Research Database (Denmark)

    Kloss, Bethany A.; Tompson, Stuart W.; Whisenhunt, Kristina N.

    2017-01-01

    Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sang...

  16. "The Whole Family Suffered, so the Whole Family Needs to Recover": Thematic Analysis of Substance-Abusing Mothers' Family Therapy Sessions.

    Science.gov (United States)

    Brakenhoff, Brittany; Slesnick, Natasha

    2015-03-01

    Substance abusing mothers and their children are more likely to experience a range of social, behavioral, and psychological difficulties. Despite the significant challenges faced by these families, little is known about their experiences in treatment. The current study analyzed 12 sessions of family therapy using thematic analysis to identify common themes that arose during substance abusing mothers and their children's discussion during family therapy. Mothers' ages ranged from 28 to 35 years and the children's ages ranged from 12 to 14 years. Four therapy sessions from three families were coded for a total of 12 therapy sessions. An ecological framework was used to classify themes, in which themes related to each level of the families' ecological systems were identified. Thematic analysis of the therapy sessions indicated that mothers and their children primarily discussed topics related to their relational and emotional needs. The findings indicated that substance use disordered mothers and their children have unique treatment needs that should be addressed when the mother seeks treatment. More research is needed to further clarify and confirm the observations in this study. In particular, future research should include a larger sample and quantitative methodology.

  17. The Analysis of Barriers in Succession Processes of Family Business with the Use of Grey Incidence Analysis (Polish Perspective

    Directory of Open Access Journals (Sweden)

    Więcek-Janka Ewa

    2016-06-01

    Full Text Available The article presents results of research on the identification and evaluation of barriers faced by successors in family businesses during the first process of succession. The analysis of empirical material used grey systems theory, which was considered as an equivalent for the analysis of small samples and qualitative research. While conducting the literature review and empirical study, the authors concentrated on (a the identification of barriers in the development of family firms and (b eliciting the perspective of the new generation of owners in family firms entering the succession process through an empirical analysis of the assessed level of risk in relationships with family and business.

  18. Assessment of bidirectional influences between family relationships and adolescent problem behavior: Discrete versus continuous time analysis

    NARCIS (Netherlands)

    Delsing, M.J.M.H.; Oud, J.H.L.; Bruyn, E.E.J. De

    2005-01-01

    In family research, bidirectional influences between the family and the individual are usually analyzed in discrete time. Results from discrete time analysis, however, have been shown to be highly dependent on the length of the observation interval. Continuous time analysis using stochastic

  19. Molecular genetic analysis of consanguineous families with primary ...

    Indian Academy of Sciences (India)

    MUZAMMIL AHMAD KHAN1

    4Department of Cell and Developmental Biology, School of Life Sciences, University of Science .... Sex. Male. Male. Male. Male. Head circumference (cm). 41. 46. 46. 39. Intellectual disability .... One family revealed a novel single-base dele-.

  20. Molecular genetic analysis of consanguineous families with primary ...

    Indian Academy of Sciences (India)

    MUZAMMIL AHMAD KHAN

    3Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria. 4Department of Cell and ... Materials and methods. Family recruitment and sample collection ..... 2014 A Drosophila genetic resource of mutats to study mechanism ...

  1. Using the Rasch Measurement Model in Psychometric Analysis of the Family Effectiveness Measure

    Science.gov (United States)

    McCreary, Linda L.; Conrad, Karen M.; Conrad, Kendon J.; Scott, Christy K; Funk, Rodney R.; Dennis, Michael L.

    2013-01-01

    Background Valid assessment of family functioning can play a vital role in optimizing client outcomes. Because family functioning is influenced by family structure, socioeconomic context, and culture, existing measures of family functioning--primarily developed with nuclear, middle class European American families--may not be valid assessments of families in diverse populations. The Family Effectiveness Measure was developed to address this limitation. Objectives To test the Family Effectiveness Measure with data from a primarily low-income African American convenience sample, using the Rasch measurement model. Method A sample of 607 adult women completed the measure. Rasch analysis was used to assess unidimensionality, response category functioning, item fit, person reliability, differential item functioning by race and parental status, and item hierarchy. Criterion-related validity was tested using correlations with five other variables related to family functioning. Results The Family Effectiveness Measure measures two separate constructs: The effective family functioning construct was a psychometrically sound measure of the target construct that was more efficient due to the deletion of 22 items. The ineffective family functioning construct consisted of 16 of those deleted items but was not as strong psychometrically. Items in both constructs evidenced no differential item functioning by race. Criterion-related validity was supported for both. Discussion In contrast to the prevailing conceptualization that family functioning is a single construct, assessed by positively and negatively worded items, use of the Rasch analysis suggested the existence of two constructs. While the effective family functioning is a strong and efficient measure of family functioning, the ineffective family functioning will require additional item development and psychometric testing. PMID:23636342

  2. Daughters Taking Over the Family Business : A Gender Analysis

    OpenAIRE

    Constantinidis, Christina; Cornet, Annie

    2008-01-01

    This paper investigates the succession process as perceived and lived by daughters taking over the family business, with a gender perspective. Despite the rich literature on the succession process in family firms, few studies use a gender approach, though an increasing number of ventures are launched, taken over and managed by women, largely contributing to the economic development. In line with Dumas (1998), Barbot et al. (2005) and Vera & Dean (2005), our research aims at analyzing the succ...

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

    DEFF Research Database (Denmark)

    Mikkelsen, Gitte; Frederiksen, Kirsten

    2011-01-01

    from 1951 to 2009 resulted in a sample of 25 research articles. Review methods.  A theoretical concept analysis influenced by Risjord's distinction between theoretical and colloquial analyses and based on the principles developed by Morse, Hupcey and Penrod was used to examine the structure...... of professionals and families, mostly represented by mothers. Few attempts have been made to operationalize the concept. Conclusion.  Family-centred care is a partially mature and highly abstract concept. Developing a theory of family-centred care could position the concept in a theoretical context and should also......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...

  4. Analysis of Family Functioning and Parent-Child Relationship between Adolescents with Depression and their Parents.

    Science.gov (United States)

    Chen, Qing; DU, Wenyong; Gao, Yan; Ma, Changlin; Ban, Chunxia; Meng, Fu

    2017-12-25

    Drug therapy combined with family therapy is currently the best treatment for adolescent depression. Nevertheless, family therapy requires an exploration of unresolved problems in the family system, which in practice presents certain difficulties. Previous studies have found that the perceptual differences of family function between parents and children reflect the problems in the family system. To explore the characteristics and role of family functioning and parent-child relationship between adolescents with depressive disorder and their parents. The general information and clinical data of the 93 adolescents with depression were collected. The Family Functioning Assessment Scale and Parent-child Relationship Scale were used to assess adolescents with depressive disorder and their parents. a) The dimensions of family functioning in adolescents with depressive disorder were more negative in communication, emotional response, emotional involvement, roles, and overall functioning than their parents. The differences were statistically significant. Parent-child relationship dimensions: the closeness and parent-child total scores were more negative compared with the parents and the differences were statistically significant. b) All dimensions of parent-child relationship and family functioning in adolescents with depression except the time spent together were negatively correlated or significantly negatively correlated. c) The results of multivariate regression analysis showed: the characteristics of family functioning, emotional involvement, emotional response, family structure, and income of the adolescents with depressive disorder mainly affected the parent-child relationship. There were perceptual differences in partial family functioning and parent-child relationship between adolescents with depressive disorder and their parents. Unclear roles between family members, mutual entanglement, too much or too little emotional investment, negligence of inner feelings

  5. Analysis of Family Functioning and Parent-Child Relationship between Adolescents with Depression and their Parents

    Science.gov (United States)

    CHEN, Qing; DU, Wenyong; GAO, Yan; MA, Changlin; BAN, Chunxia; MENG, Fu

    2017-01-01

    Background Drug therapy combined with family therapy is currently the best treatment for adolescent depression. Nevertheless, family therapy requires an exploration of unresolved problems in the family system, which in practice presents certain difficulties. Previous studies have found that the perceptual differences of family function between parents and children reflect the problems in the family system. Aims To explore the characteristics and role of family functioning and parent-child relationship between adolescents with depressive disorder and their parents. Methods The general information and clinical data of the 93 adolescents with depression were collected. The Family Functioning Assessment Scale and Parent-child Relationship Scale were used to assess adolescents with depressive disorder and their parents. Results a) The dimensions of family functioning in adolescents with depressive disorder were more negative in communication, emotional response, emotional involvement, roles, and overall functioning than their parents. The differences were statistically significant. Parent-child relationship dimensions: the closeness and parent-child total scores were more negative compared with the parents and the differences were statistically significant. b) All dimensions of parent-child relationship and family functioning in adolescents with depression except the time spent together were negatively correlated or significantly negatively correlated. c) The results of multivariate regression analysis showed: the characteristics of family functioning, emotional involvement, emotional response, family structure, and income of the adolescents with depressive disorder mainly affected the parent-child relationship. Conclusions There were perceptual differences in partial family functioning and parent-child relationship between adolescents with depressive disorder and their parents. Unclear roles between family members, mutual entanglement, too much or too little emotional

  6. Family Adaptation to Relocation: An Empirical Analysis of Family Stressors, Adaptive Resources, and Sense of Coherence

    Science.gov (United States)

    1989-07-01

    825. Lazarus , R. S., & Folkman , S. (1984). Stress, appraisal, and coping. New York: Springer. mcCuIbin, H. I., & Lavee, Y . (1986). Strengthenirg Army...Soirani, 1988; Lazarus & Folkman , 1984; Mckbbin & Patterson, 1983), family adaptation was defined broadly as a crmposite of the overall adjustment of...ongr- y of expectations that members and spouses had prior to arrival in West Germany with their actual experiences since arrival (Alpha: Members = .91

  7. Segregation analysis of abdominal visceral fat: the HERITAGE Family Study.

    Science.gov (United States)

    Rice, T; Després, J P; Pérusse, L; Gagnon, J; Leon, A S; Skinner, J S; Wilmore, J H; Rao, D C; Bouchard, C

    1997-09-01

    A major gene hypothesis for abdominal visceral fat (AVF) level, both before and after adjustment for total body fat mass, was investigated in 86 white families who participated in the HERITAGE Family Study. In this study, sedentary families were tested for a battery of measures (baseline), endurance exercise trained for 20 weeks, and then remeasured again. The baseline measures reported here are unique in that the variance due to a potentially important environmental factor (activity level) was limited. AVF area was assessed at L4 to L5 by the use of computerized tomography scan, and total body fat mass was assessed with underwater weighing. For fat mass, a putative locus accounted for 64% of the variance, but there was no evidence of a multifactorial component (i.e., no polygenic and/or common familial environmental effects). For AVF area, both a major gene effect accounting for 54% of the variance and a multifactorial component accounting for 17% of the variance were significant. However, after AVF area was adjusted for the effects of total level of body fat, the support for a major gene was reduced. In particular, there was a major effect for fat mass-adjusted AVF area, but it was not transmitted from parents to offspring (i.e., the three transmission probabilities were equal). The importance of this study is twofold. First, these results confirm a previous study that suggested that there is a putative major locus for AVF and for total body fat mass. Second, the findings from the HERITAGE Family Study suggest that the factors underlying AVF area in sedentary families may be similar to those in the population at large, which includes both sedentary and active families. Whether the gene(s) responsible for the high levels of AVF area is the same as that which influences total body fat content remains to be further investigated.

  8. morphophonological analysis of akan female family-name formation

    African Journals Online (AJOL)

    female family-names in Akan, a Niger-Congo (Kwa) language through the .... posits is that of the Akuapem dialect which does not change its form in the formation of ... form and meaning/semantic properties is straightforward in the Akuapem dialect .... females as well, therefore raising serious doubts about such classification.

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

    International Nuclear Information System (INIS)

    Hernandez-Bermejo, Benito

    2006-01-01

    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

  10. 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.

  11. Mental health literacy in family caregivers: A comparative analysis.

    Science.gov (United States)

    Mehrotra, Kanika; Nautiyal, Snigdha; Raguram, Ahalya

    2018-01-01

    The present study was undertaken to examine the current level of mental health literacy in family caregivers and to compare the changes over a 23-year period between 1993 and 2016. The current sample consisted of 60 family caregivers of patients with major mental illness from the in-patient and out-patient departments of NIMHANS, assessed on the Orientation towards Mental Illness Scale (OMI). This was compared with data of 80 family caregivers from previous study done in 1993. Family caregivers in the current study showed a significant positive trend on comparison with the previous study. However, area of abnormal behaviour shows a worsening of negative attitudes. Hopelessness and hypo-functioning, relating to the factor of after-effects of mental illness show no significant difference. While knowledge about mental illnesses can be improved by providing information, this does not automatically translate to integration of the mentally ill in society. Current initiatives need to be matched with specific and sustained efforts to reduce stigma associated with mental illness which have persisted unchanged. Copyright © 2018 Elsevier B.V. All rights reserved.

  12. The Self-Report Family Inventory: An Exploratory Factor Analysis

    Science.gov (United States)

    Goodrich, Kristopher M.; Selig, James P.; Trahan, Don P., Jr.

    2012-01-01

    Researchers explored the factor structure of the Self-Report Family Inventory with a sample of heterosexual parents who have a son or daughter who self-identifies as lesbian, gay, or bisexual. Results suggest that a two-factor solution is appropriate. Research and clinical implications are offered. (Contains 1 figure and 2 tables.)

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

    African Journals Online (AJOL)

    USER

    Keywords: Mobile clinics; Staic clinic; Family planning; Cost-effectiveness. Résumé. Des analyses ... d'offrir plus de méthodes de longue durée d'action peut influer sur une décision politique entre ces options. Cliniques ... nurse and a driver9.

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

    OpenAIRE

    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 k...

  15. 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.

  16. 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.

  17. 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, Pdisorder 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.

  18. 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.

  19. Impact of a Family Empowerment Intervention on Delinquent Behavior: A Latent Growth Model Analysis.

    Science.gov (United States)

    Dembo, Richard; Schmeidler, James; Wothke, Werner

    2003-01-01

    Analysis indicated that reported frequency of involvement in delinquency declined more over time for families receiving Family Empowerment Intervention (FEI) as opposed to those receiving Extended Services Intervention (ESI). Results provide support for the impact of FEI services on reported frequency of delinquent behavior over a 36-month…

  20. AAMFT Master Series Tapes: An Analysis of the Inclusion of Feminist Principles into Family Therapy Practice.

    Science.gov (United States)

    Haddock, Shelley A.; MacPhee, David; Zimmerman, Toni Schindler

    2001-01-01

    Content analysis of 23 American Association for Marriage and Family Therapy Master Series tapes was used to determine how well feminist behaviors have been incorporated into ideal family therapy practice. Feminist behaviors were infrequent, being evident in fewer than 3% of time blocks in event sampling and 10 of 39 feminist behaviors of the…

  1. Mediators and Metaphorical Analysis: A Phenomenological Study of Florida Family Court Mediators

    Science.gov (United States)

    Storrow, Rebecca A.

    2012-01-01

    Florida family court mediation programs have typically been assessed with quantitative analysis. To understand the complexity of the experience of being a family mediator, it was necessary to explore how mediators practiced through qualitative research. Metaphors have been considered to be representations of mediators' mental models regarding…

  2. Balancing work and family after childbirth: a longitudinal analysis.

    Science.gov (United States)

    Grice, Mira M; McGovern, Patricia M; Alexander, Bruce H; Ukestad, Laurie; Hellerstedt, Wendy

    2011-01-01

    in the United States, women with young children have dramatically increased their participation in the workforce, resulting in greater potential conflict between work and family roles. However, few studies have examined postpartum work-family conflict. This study examined associations between work-family conflict and women's health after childbirth. employed women, 18 years of age and older, were recruited while hospitalized for childbirth and followed for 18 months (n = 541; 66% response rate). Health outcomes were measured using the Short Form 12, version 2. Longitudinal fixed-effects models estimated the associations between work-family conflict (modeled as job and home spillover) and health. women who reported high levels of job spillover to home had mental health scores slightly, but significantly, worse than women who reported low levels of spillover (β = -1.26; SE = 0.47). Women with medium and high levels of home spillover to job also reported worse mental health (β = -0.81, SE = 0.30; and β = -1.52, SE = 0.78) relative to those with low spillover. Women who reported medium (versus low) levels of home spillover reported slightly improved physical health (β = 0.64, SE = 0.30). There was no significant association between job spillover and physical health. this study focused exclusively on employed postpartum women. Results illustrate that job and home spillover are associated with maternal mental and physical health. Findings also revealed that flexible work arrangements were associated with poorer postpartum mental health scores, which may reflect unintended consequences, such as increasing the amount of work brought home. 2011 Jacobs Institute of Women's Health. Published by Elsevier Inc.

  3. Comparative analysis of family poultry production in twelve African countries

    International Nuclear Information System (INIS)

    Goodger, W.J.; Bennett, T.B.; Dwinger, R.H.

    2002-01-01

    The purpose of the research was to conduct a survey on family poultry to obtain information on disease prevalence, feeding practices, and the management of poultry housing in twelve African countries. The survey data were collected during both the wet and dry seasons and summarised (average and standard deviation) by country, village/region, season, and survey question. The disease data results show that three (greenish/bloody diarrhoea, swollen head, and coughing) of top four reported symptoms are part of Newcastle disease's presenting signs. Chick mortality was also higher in the wet season, when there is a higher incidence of Newcastle disease. This was also supported by the individual country data in that those countries with high chick mortality data also had low hatchability in the wet season with Egypt being the only exception. The types of housing used for shelter for family poultry was quite variable and presented a challenge to determine the level of cleaning/sanitation to assist in controlling Newcastle disease. On the one hand, a large percentage of households reported never cleaning the poultry house (e.g., Cameroon, Morocco, Mauritius, and Sudan). On the other hand, 34% of the responses to housing type were either trees or other forms of housing that would be difficult to clean i.e., old car, fence, surrounding wall, etc. Obviously, these results should be closely examined when instituting control programs for Newcastle disease. The large variety of available scavenged feed without any data on intake raises the question of how to balance the ration for the flock. Family poultry scientists need to determine a method to estimate intake which could assist in determining what supplementary feed is necessary if any. This challenge may be one of the most important aspects to family poultry management because of the importance of nutrition to poultry production with the added difficulty of providing balanced nutrition in an extensive system. (author)

  4. Familial atrophia maculosa varioliformis cutis: case report and pedigree analysis.

    Science.gov (United States)

    Qu, T; Wang, B; Fang, K

    2005-10-01

    Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.

  5. 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.

  6. The Effect of Family Factors on Intense Alcohol Use among European Adolescents: A Multilevel Analysis

    Directory of Open Access Journals (Sweden)

    Kristjan Kask

    2013-01-01

    multilevel analysis, it was found that overall, complete family and high social control by parents were lowering the intense alcohol use whereas negative life events in the family and high family affluence were increasing youngsters' intense alcohol use. Differences between regions of Europe were present for all family factors except affluence. Namely, in Northern Europe the impact of family structure and social control on intense alcohol use was stronger than that in other regions (e.g., Western Europe, Mediterranean, and Postsocialist countries. Also, in Northern Europe where the proportion of adolescents who have not experienced negative life events is the highest, the impact of negative life events on intense alcohol use was stronger; that is, negative life events increased the alcohol use. We conclude that family plays a significant role in adolescents' risky alcohol use.

  7. The use of Theory in Family Therapy Research: Content Analysis and Update.

    Science.gov (United States)

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

    2017-07-01

    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. © 2017 American Association for Marriage and Family Therapy.

  8. [Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

    Science.gov (United States)

    Mei, Libin; Huang, Yanru; Pan, Qian; Liang, Desheng; Wu, Lingqian

    2015-05-01

    The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features. Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.

  9. Family centered care of hospitalized children: A hybrid concept analysis in Iran

    Directory of Open Access Journals (Sweden)

    Mahboobeh Khajeh

    2017-09-01

    Full Text Available Background: Family centered care of hospitalized children (FCCHC is a multidimensional concept, which is directly associated with the context and healthcare system. This study was conducted to analyze the concept of FCCHC in Iran.Methods: This concept analysis was conducted with the use of hybrid model in 3 phases: a literature review in the theoretical phase, semi-structured interviews and descriptive observations in the fieldwork phase, and combination of the results of 2 previous phases in the final analytical phase.Results: The 4 main themes extracted in theoretical phase included "family and healthcare professional participation", "information sharing with families", "family and healthcare professional relationship based on dignity and respect" and "individualized care of family".Moreover, 4 themes were emerged in the fieldwork phase, including "family as a nonparticipant visitor", "one-way education", "non-supportive interactions" and "non-specific care of family". In third phase with combination of the results of 2 phases, the final definition of the concept was presented.Conclusion: FCCHC is a comprehensive care that is affected by human and organizational factors and requires full participation of staff and family, effective interaction with family, education and information sharing with them, and individualized care of each family. By knowing the dimensions of the FCCHC, we will be able to run our activities to provide facilities and features for its optimal implementation in Iran.

  10. 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.

  11. Genome cluster database. A sequence family analysis platform for Arabidopsis and rice.

    Science.gov (United States)

    Horan, Kevin; Lauricha, Josh; Bailey-Serres, Julia; Raikhel, Natasha; Girke, Thomas

    2005-05-01

    The genome-wide protein sequences from Arabidopsis (Arabidopsis thaliana) and rice (Oryza sativa) spp. japonica were clustered into families using sequence similarity and domain-based clustering. The two fundamentally different methods resulted in separate cluster sets with complementary properties to compensate the limitations for accurate family analysis. Functional names for the identified families were assigned with an efficient computational approach that uses the description of the most common molecular function gene ontology node within each cluster. Subsequently, multiple alignments and phylogenetic trees were calculated for the assembled families. All clustering results and their underlying sequences were organized in the Web-accessible Genome Cluster Database (http://bioinfo.ucr.edu/projects/GCD) with rich interactive and user-friendly sequence family mining tools to facilitate the analysis of any given family of interest for the plant science community. An automated clustering pipeline ensures current information for future updates in the annotations of the two genomes and clustering improvements. The analysis allowed the first systematic identification of family and singlet proteins present in both organisms as well as those restricted to one of them. In addition, the established Web resources for mining these data provide a road map for future studies of the composition and structure of protein families between the two species.

  12. Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome

    NARCIS (Netherlands)

    Mathijssen, Inge B.; Hoovers, Jan M. N.; Mul, Adri N. P. M.; Man, Hai-Yen; Ket, Jan L.; Hennekam, Raoul C. M.

    2005-01-01

    We report on a family with six persons in three generations who have mild mental retardation, behavioral problems, seizures, hearing loss, strabismus, dental anomalies, hypermobility, juvenile hallux valgus, and mild dysmorphic features. Classical cytogenetic analysis showed a partial duplication of

  13. 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

  14. 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.

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

    Science.gov (United States)

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

    2015-10-01

    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 parents and their children vary across patients, their healthy siblings, and healthy controls (effect familial liability), and across two environmental risk factors for psychotic disorder: childhood trauma and childhood urban exposure (effect environment) and (2) to what degree the association between familial liability and educational differential was moderated by the environmental exposures. Patients with a diagnosis of non-affective psychotic disorder (n = 629), 552 non-psychotic siblings and 326 healthy controls from the Netherlands and Belgium were studied. Participants reported their highest level of education and that of their parents. Childhood trauma was assessed with the Dutch version of the Childhood Trauma Questionnaire-Short Form. Urban exposure, expressed as population density, was rated across five levels. Overall, participants had a higher level of education than their parents. This difference was significantly reduced in the patient group, and the healthy siblings displayed intergenerational differences that were in between those of controls and patients. Higher levels of childhood urban exposure were also associated with a smaller intergenerational educational differential. There was no evidence for differential sensitivity to childhood trauma and childhood urbanicity across the three groups. Intergenerational difference in educational achievements is decreased in patients with psychotic disorder and to a lesser extent in siblings of patients with psychotic disorder, and across higher levels of childhood urban exposure. More research is required to better understand the dynamics between early social and cognitive alterations in those at risk in relation to progress

  16. 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...... in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication downstream of RUNX2 found in one patient suggests a possible regulatory RUNX2 element. The CCD phenotypes...

  17. Ratio analysis specifics of the family dairies' financial statements

    OpenAIRE

    Mitrović Aleksandra; Knežević Snežana; Veličković Milica

    2015-01-01

    The subject of this paper is the evaluation of the financial analysis specifics of the dairy enterprises with a focus on the implementation of the ratio analysis of financial statements. The ratio analysis is a central part of financial analysis, since it is based on investigating the relationship between logically related items in the financial statements to assess the financial position of the observed enterprise and its earning capacity. Speaking about the reporting of financial performanc...

  18. Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

    OpenAIRE

    Astuto, Lisa M.; Weston, Michael D.; Carney, Carol A.; Hoover, Denise M.; Cremers, Cor W.R.J.; Wagenaar, Mariette; Moller, Claes; Smith, Richard J.H.; Pieke-Dahl, Sandra; Greenberg, Jacquie; Ramesar, Raj; Jacobson, Samuel G.; Ayuso, Carmen; Heckenlively, John R.; Tamayo, Marta

    2000-01-01

    Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were info...

  19. A confirmative clinimetric analysis of the 36-item Family Assessment Device.

    Science.gov (United States)

    Timmerby, Nina; Cosci, Fiammetta; Watson, Maggie; Csillag, Claudio; Schmitt, Florence; Steck, Barbara; Bech, Per; Thastum, Mikael

    2018-02-07

    The Family Assessment Device (FAD) is a 60-item questionnaire widely used to evaluate self-reported family functioning. However, the factor structure as well as the number of items has been questioned. A shorter and more user-friendly version of the original FAD-scale, the 36-item FAD, has therefore previously been proposed, based on findings in a nonclinical population of adults. We aimed in this study to evaluate the brief 36-item version of the FAD in a clinical population. Data from a European multinational study, examining factors associated with levels of family functioning in adult cancer patients' families, were used. Both healthy and ill parents completed the 60-item version FAD. The psychometric analyses conducted were Principal Component Analysis and Mokken-analysis. A total of 564 participants were included. Based on the psychometric analysis we confirmed that the 36-item version of the FAD has robust psychometric properties and can be used in clinical populations. The present analysis confirmed that the 36-item version of the FAD (18 items assessing 'well-being' and 18 items assessing 'dysfunctional' family function) is a brief scale where the summed total score is a valid measure of the dimensions of family functioning. This shorter version of the FAD is, in accordance with the concept of 'measurement-based care', an easy to use scale that could be considered when the aim is to evaluate self-reported family functioning.

  20. Nance-Horan syndrome: linkage analysis in a family from The Netherlands

    NARCIS (Netherlands)

    Bergen, A. A.; ten Brink, J.; Schuurman, E. J.; Bleeker-Wagemakers, E. M.

    1994-01-01

    Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 (zmax = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses

  1. Factor analysis shows association between family activity environment and children's health behaviour.

    Science.gov (United States)

    Hendrie, Gilly A; Coveney, John; Cox, David N

    2011-12-01

    To characterise the family activity environment in a questionnaire format, assess the questionnaire's reliability and describe its predictive ability by examining the relationships between the family activity environment and children's health behaviours - physical activity, screen time and fruit and vegetable intake. This paper describes the creation of a tool, based on previously validated scales, adapted from the food domain. Data are from 106 children and their parents (Adelaide, South Australia). Factor analysis was used to characterise factors within the family activity environment. Pearson-Product Moment correlations between the family environment and child outcomes, controlling for demographic variation, were examined. Three factors described the family activity environment - parental activity involvement, opportunity for role modelling and parental support for physical activity - and explained 37.6% of the variance. Controlling for demographic factors, the scale was significantly correlated with children's health behaviour - physical activity (r=0.27), screen time (r=-0.24) and fruit and vegetable intake (r=0.34). The family activity environment questionnaire shows high internal consistency and moderate predictive ability. This study has built on previous research by taking a more comprehensive approach to measuring the family activity environment. This research suggests the family activity environment should be considered in family-based health promotion interventions. © 2011 The Authors. ANZJPH © 2011 Public Health Association of Australia.

  2. A meta-analysis of family accommodation and OCD symptom severity.

    Science.gov (United States)

    Wu, Monica S; McGuire, Joseph F; Martino, Charitie; Phares, Vicky; Selles, Robert R; Storch, Eric A

    2016-04-01

    Family accommodation in obsessive-compulsive disorder (OCD) is characterized by myriad behaviors, such as modifying family routines, facilitating avoidance, and engaging in compulsions to reduce obsessional distress. It has been linked to various deleterious outcomes including increased functional impairment and poorer treatment response for OCD. Although extant literature suggests a linear relationship between family accommodation and OCD symptom severity, the magnitude and statistical significance of this association has been inconsistent across studies, indicating that moderators may be influencing this relationship. The present study examined this relationship using meta-analytic techniques, and investigated sample-dependent (age, gender, comorbid anxiety/mood disorders) and methodological (administration method and number of items used in family accommodation measure, informant type, sample size, publication year) moderators. Forty-one studies were included in the present meta-analysis, and the overall effect size (ES) for the correlation between family accommodation and OCD symptom severity was moderate (r=.42). Moderator analyses revealed that the number of items on the family accommodation scale moderated the ES. No other sample-dependent or methodological characteristics emerged as moderators. In addition to being the first systematic examination of family accommodation moderators, these results highlight the moderate relationship between family accommodation and OCD severity that is influenced by measurement scales. Findings may be used to guide clinical care and inform future investigations by providing a more nuanced understanding of family accommodation in OCD. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Crowdsourced direct-to-consumer genomic analysis of a family quartet.

    Science.gov (United States)

    Corpas, Manuel; Valdivia-Granda, Willy; Torres, Nazareth; Greshake, Bastian; Coletta, Alain; Knaus, Alexej; Harrison, Andrew P; Cariaso, Mike; Moran, Federico; Nielsen, Fiona; Swan, Daniel; Weiss Solís, David Y; Krawitz, Peter; Schacherer, Frank; Schols, Peter; Yang, Huangming; Borry, Pascal; Glusman, Gustavo; Robinson, Peter N

    2015-11-07

    We describe the pioneering experience of a Spanish family pursuing the goal of understanding their own personal genetic data to the fullest possible extent using Direct to Consumer (DTC) tests. With full informed consent from the Corpas family, all genotype, exome and metagenome data from members of this family, are publicly available under a public domain Creative Commons 0 (CC0) license waiver. All scientists or companies analysing these data ("the Corpasome") were invited to return results to the family. We released 5 genotypes, 4 exomes, 1 metagenome from the Corpas family via a blog and figshare under a public domain license, inviting scientists to join the crowdsourcing efforts to analyse the genomes in return for coauthorship or acknowldgement in derived papers. Resulting analysis data were compiled via social media and direct email. Here we present the results of our investigations, combining the crowdsourced contributions and our own efforts. Four companies offering annotations for genomic variants were applied to four family exomes: BIOBASE, Ingenuity, Diploid, and GeneTalk. Starting from a common VCF file and after selecting for significant results from company reports, we find no overlap among described annotations. We additionally report on a gut microbiome analysis of a member of the Corpas family. This study presents an analysis of a diverse set of tools and methods offered by four DTC companies. The striking discordance of the results mirrors previous findings with respect to DTC analysis of SNP chip data, and highlights the difficulties of using DTC data for preventive medical care. To our knowledge, the data and analysis results from our crowdsourced study represent the most comprehensive exome and analysis for a family quartet using solely DTC data generation to date.

  4. 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. © The Author(s) 2015.

  5. 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.

  6. 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

  7. Confirmatory Factor Analysis of a Family Quality of Life Scale for Families of Kindergarten Children without Disabilities

    Science.gov (United States)

    Zuna, Nina I.; Selig, James P.; Summers, Jean Ann; Turnbull, Ann P.

    2009-01-01

    Recently, within the field of special education, attention has been accorded to the conceptualization and measurement of family outcomes. The Family Quality of Life (FQOL) Scale is an instrument that can be used to measure family outcomes for families who have children with disabilities, and it has been demonstrated to have psychometric validity.…

  8. The pathology of familial breast cancer: Immunohistochemistry and molecular analysis

    International Nuclear Information System (INIS)

    Osin, Pinchas P; Lakhani, Sunil R

    1999-01-01

    Extensive studies of BRCA1- and BRCA2-associated breast tumours have been carried out in the few years since the identification of these familial breast cancer predisposing genes. The morphological studies suggest that BRCA1 tumours differ from BRCA2 tumours and from sporadic breast cancers. Recent progress in immunohistochemistry and molecular biology techniques has enabled in-depth investigation of molecular pathology of these tumours. Studies to date have investigated issues such as steroid hormone receptor expression, mutation status of tumour suppressor genes TP53 and c-erbB2, and expression profiles of cell cycle proteins p21, p27 and cyclin D 1 . Despite relative paucity of data, strong evidence of unique biological characteristics of BRCA1-associated breast cancer is accumulating. BRCA1-associated tumours appear to show an increased frequency of TP53 mutations, frequent p53 protein stabilization and absence of imunoreactivity for steroid hormone receptors. Further studies of larger number of samples of both BRCA1- and BRCA2-associated tumours are necessary to clarify and confirm these observations

  9. Comparative genome analysis of PHB gene family reveals deep evolutionary origins and diverse gene function.

    Science.gov (United States)

    Di, Chao; Xu, Wenying; Su, Zhen; Yuan, Joshua S

    2010-10-07

    PHB (Prohibitin) gene family is involved in a variety of functions important for different biological processes. PHB genes are ubiquitously present in divergent species from prokaryotes to eukaryotes. Human PHB genes have been found to be associated with various diseases. Recent studies by our group and others have shown diverse function of PHB genes in plants for development, senescence, defence, and others. Despite the importance of the PHB gene family, no comprehensive gene family analysis has been carried to evaluate the relatedness of PHB genes across different species. In order to better guide the gene function analysis and understand the evolution of the PHB gene family, we therefore carried out the comparative genome analysis of the PHB genes across different kingdoms. The relatedness, motif distribution, and intron/exon distribution all indicated that PHB genes is a relatively conserved gene family. The PHB genes can be classified into 5 classes and each class have a very deep evolutionary origin. The PHB genes within the class maintained the same motif patterns during the evolution. With Arabidopsis as the model species, we found that PHB gene intron/exon structure and domains are also conserved during the evolution. Despite being a conserved gene family, various gene duplication events led to the expansion of the PHB genes. Both segmental and tandem gene duplication were involved in Arabidopsis PHB gene family expansion. However, segmental duplication is predominant in Arabidopsis. Moreover, most of the duplicated genes experienced neofunctionalization. The results highlighted that PHB genes might be involved in important functions so that the duplicated genes are under the evolutionary pressure to derive new function. PHB gene family is a conserved gene family and accounts for diverse but important biological functions based on the similar molecular mechanisms. The highly diverse biological function indicated that more research needs to be carried out

  10. Measuring the satisfaction of intensive care unit patient families in Morocco: a regression tree analysis.

    Science.gov (United States)

    Damghi, Nada; Khoudri, Ibtissam; Oualili, Latifa; Abidi, Khalid; Madani, Naoufel; Zeggwagh, Amine Ali; Abouqal, Redouane

    2008-07-01

    Meeting the needs of patients' family members becomes an essential part of responsibilities of intensive care unit physicians. The aim of this study was to evaluate the satisfaction of patients' family members using the Arabic version of the Society of Critical Care Medicine's Family Needs Assessment questionnaire and to assess the predictors of family satisfaction using the classification and regression tree method. The authors conducted a prospective study. This study was conducted at a 12-bed medical intensive care unit in Morocco. Family representatives (n = 194) of consecutive patients with a length of stay >48 hrs were included in the study. Intervention was the Society of Critical Care Medicine's Family Needs Assessment questionnaire. Demographic data for relatives included age, gender, relationship with patients, education level, and intensive care unit commuting time. Clinical data for patients included age, gender, diagnoses, intensive care unit length of stay, Acute Physiology and Chronic Health Evaluation, MacCabe index, Therapeutic Interventioning Scoring System, and mechanical ventilation. The Arabic version of the Society of Critical Care Medicine's Family Needs Assessment questionnaire was administered between the third and fifth days after admission. Of family representatives, 81% declared being satisfied with information provided by physicians, 27% would like more information about the diagnosis, 30% about prognosis, and 45% about treatment. In univariate analysis, family satisfaction (small Society of Critical Care Medicine's Family Needs Assessment questionnaire score) increased with a lower family education level (p = .005), when the information was given by a senior physician (p = .014), and when the Society of Critical Care Medicine's Family Needs Assessment questionnaire was administered by an investigator (p = .002). Multivariate analysis (classification and regression tree) showed that the education level was the predominant factor

  11. Information and Analysis System Stages of Family Welfare in District Balong

    Directory of Open Access Journals (Sweden)

    Eka Arynda Ayu

    2017-05-01

    Full Text Available Badan Kependudukan dan Keluarga Berencana Nasional (BKKBN is a family that formed due to legal marriage, is able to meet the needs of the spiritual and the material that is decent, devoted to God Almighty, have a relationship that is harmonious and balanced between members and between families with the community and the environment. Every year the government to collect data on the status of a prosperous family stage where the purpose of the data collection is in the framework of development and poverty alleviation programs. Data collection process in the District Balong is still done manually so that the risk of error in determining the status of a family stage could happen. Information and analysis system of status stages of family welfare is designed to make web-based officers in the input data and determine the status of a prosperous family stages based on selected indicators of the sheet R/1/KS. Sample of data from Bulukidul village and sub-district village of Balong Ngraket 2014. Results of the system in the form of data reports the results of process steps and the results can be viewed in graphical form. Comparison chart to show the status of the highest percentage of poor welfare families stages. Instead lowest percentage shows the stages of a prosperous family able or rich. 

  12. The Generational Change in Family Businesses: Comparative Analysis between Italy and Peru

    Directory of Open Access Journals (Sweden)

    César Cáceres Dagnino

    2017-07-01

    Full Text Available The aim of this paper is to understand how family firms in Italy and Peru prepare for generational change, by comparing three companies from each of these countries. After a theoretical analysis, having examined and compared the literature to define the family business, the business family and the generational change, an empirical analysis has been made using a quantitative survey (STEP 2013-2014 and its model, which makes a revision of a set of constructs, to identify if there is transgenerational potential in the business families. From the comparison of the six companies it appears that, contrary to what was initially thought, there are no such relevant differences. They are only diverse approaches to different problems of the same phenomenon. It is concluded that the six companies have an adequate transgenerational potential and are ready for a successful generational change.

  13. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

    Science.gov (United States)

    Ávila-Fernández, Almudena; Cantalapiedra, Diego; Aller, Elena; Vallespín, Elena; Aguirre-Lambán, Jana; Blanco-Kelly, Fiona; Corton, M; Riveiro-Álvarez, Rosa; Allikmets, Rando; Trujillo-Tiebas, María José; Millán, José M; Cremers, Frans P M; Ayuso, Carmen

    2010-12-03

    Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. 272 unrelated Spanish families, 107 with autosomal recessive RP (arRP) and 165 with sporadic RP (sRP), were studied using the APEX genotyping microarray. The families were also classified by clinical criteria: 86 juveniles and 186 typical RP families. Haplotype and sequence analysis were performed to identify the second mutated allele. At least one-gene variant was found in 14% and 16% of the juvenile and typical RP groups respectively. Further study identified four new mutations, providing both causative changes in 11% of the families. Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. The only variant found in CERKL was p.Arg257Stop, the most frequent mutation. The genotyping microarray combined with segregation and sequence analysis allowed us to identify the causative mutations in 11% of the families. Due to the low number of characterized families, this approach should be used in tandem with other techniques.

  14. Welfare family policies and gender earnings inequality: A cross-national comparative analysis

    OpenAIRE

    Mandel, Hadas; Semyonov, Moshe

    2003-01-01

    The present study examines whether and to what extent welfare-family policies are likely to affect earnings inequality between economically active men and women. Using hierarchical linear models, we combine individual-level variables (obtained from the Luxembourg Income Study) with country level data (obtained from secondary sources) to evaluate the net effects of welfare family policies on gender earnings inequality across 20 industrialized countries. The analysis reveals that net of individ...

  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. A Latent Profile Analysis of Latino Parenting: The Infusion of Cultural Values on Family Conflict

    OpenAIRE

    Ayón, Cecilia; Williams, Lela Rankin; Marsiglia, Flavio F.; Ayers, Stephanie; Kiehne, Elizabeth

    2015-01-01

    The purpose of the present study was to (a) examine how acculturation and social support inform Latinos’ parenting behaviors, controlling for gender and education; (b) describe parenting styles among Latino immigrants while accounting for cultural elements; and (c) test how these parenting styles are associated with family conflict. A 3 step latent profile analysis with the sample (N = 489) revealed best fit with a 4 profile model (n = 410) of parenting: family parenting (n = 268, 65%), child...

  17. 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

  18. Positive Behavior Support and Applied Behavior Analysis: A Familial Alliance

    Science.gov (United States)

    Dunlap, Glen; Carr, Edward G.; Horner, Robert H.; Zarcone, Jennifer R.; Schwartz, Ilene

    2008-01-01

    Positive behavior support (PBS) emerged in the mid-1980s as an approach for understanding and addressing problem behaviors. PBS was derived primarily from applied behavior analysis (ABA). Over time, however, PBS research and practice has incorporated evaluative methods, assessment and intervention procedures, and conceptual perspectives associated…

  19. Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

    NARCIS (Netherlands)

    Bergen, A. A.; van den Born, L. I.; Schuurman, E. J.; Pinckers, A. J.; van Ommen, G. J.; Bleekers-Wagemakers, E. M.; Sandkuijl, L. A.

    1995-01-01

    Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in

  20. Empowerment of family caregivers of adults and elderly persons: A concept analysis.

    Science.gov (United States)

    Sakanashi, Sayori; Fujita, Kimie

    2017-10-01

    This concept analysis defined and described the components of empowerment of family caregivers who care for adults and the elderly. Rodgers evolutionary method of concept analysis was used. Data sources included Pub Med, CINAHL, Scopus, and Igaku Chuo Zasshi. Thirty articles published between 1995 and 2015 focusing on the empowerment of family caregivers providing care to adults and the elderly were selected. The analysis reveals 6 attributes, 5 antecedents, and 5 consequences. In addition, the results reveal structured aspects of family caregivers, care receivers, and other people surrounding them, and their relationships. Empowerment of adults' and elders' family caregivers may be defined as "positive control of one's mind and body, cultivating a positive attitude, proactively attempting to understand one's role as a caregiver to improve caregiving capabilities, focusing on others as well as oneself, supporting the independence of the care receiver, and creating constructive relationships with other people surrounding them." The components of empowerment clarified in this research can be used for the measurement of and interventions aimed at improving empowerment among family caregivers. Furthermore, clarifying the definition of empowerment among family caregivers enables researchers to better distinguish empowerment from similar concepts in the future. © 2017 John Wiley & Sons Australia, Ltd.

  1. Identification and expression profiling analysis of TCP family genes involved in growth and development in maize.

    Science.gov (United States)

    Chai, Wenbo; Jiang, Pengfei; Huang, Guoyu; Jiang, Haiyang; Li, Xiaoyu

    2017-10-01

    The TCP family is a group of plant-specific transcription factors. TCP genes encode proteins harboring bHLH structure, which is implicated in DNA binding and protein-protein interactions and known as the TCP domain. TCP genes play important roles in plant development and have been evolutionarily and functionally elaborated in various plants, however, no overall phylogenetic analysis or expression profiling of TCP genes in Zea mays has been reported. In the present study, a systematic analysis of molecular evolution and functional prediction of TCP family genes in maize ( Z . mays L.) has been conducted. We performed a genome-wide survey of TCP genes in maize, revealing the gene structure, chromosomal location and phylogenetic relationship of family members. Microsynteny between grass species and tissue-specific expression profiles were also investigated. In total, 29 TCP genes were identified in the maize genome, unevenly distributed on the 10 maize chromosomes. Additionally, ZmTCP genes were categorized into nine classes based on phylogeny and purifying selection may largely be responsible for maintaining the functions of maize TCP genes. What's more, microsynteny analysis suggested that TCP genes have been conserved during evolution. Finally, expression analysis revealed that most TCP genes are expressed in the stem and ear, which suggests that ZmTCP genes influence stem and ear growth. This result is consistent with the previous finding that maize TCP genes represses the growth of axillary organs and enables the formation of female inflorescences. Altogether, this study presents a thorough overview of TCP family in maize and provides a new perspective on the evolution of this gene family. The results also indicate that TCP family genes may be involved in development stage in plant growing conditions. Additionally, our results will be useful for further functional analysis of the TCP gene family in maize.

  2. New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes.

    Science.gov (United States)

    Parker, Brian J; Moltke, Ida; Roth, Adam; Washietl, Stefan; Wen, Jiayu; Kellis, Manolis; Breaker, Ronald; Pedersen, Jakob Skou

    2011-11-01

    Regulatory RNA structures are often members of families with multiple paralogous instances across the genome. Family members share functional and structural properties, which allow them to be studied as a whole, facilitating both bioinformatic and experimental characterization. We have developed a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein-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 identify tens of new families supported by strong evolutionary evidence and other statistical evidence, such as GO term enrichments. For some of these, detailed analysis has led to the formulation of specific functional hypotheses. Examples include two hypothesized auto-regulatory feedback mechanisms: one involving six long hairpins in the 3'-UTR of MAT2A, a key metabolic gene that produces the primary human methyl donor S-adenosylmethionine; the other involving a tRNA-like structure in the intron of the tRNA maturation gene POP1. We experimentally validate the predicted MAT2A structures. Finally, we identify potential new regulatory networks, including large families of short hairpins enriched in immunity-related genes, e.g., TNF, FOS, and CTLA4, which include known transcript destabilizing elements. Our findings exemplify the diversity of post-transcriptional regulation and provide a resource for further characterization of new regulatory mechanisms and families of noncoding RNAs.

  3. 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

    in the inner nuclear layer, no light rise in the electro-oculography, and a reduced central but preserved peripheral retinal function by multifocal electroretinography. Full-field electroretinography demonstrated a reduced rod response and inner retina dysfunction. Retinal structure was normal in all 3 family......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...

  4. The frequency of family meals and nutritional health in children: a meta-analysis.

    Science.gov (United States)

    Dallacker, M; Hertwig, R; Mata, J

    2018-05-01

    Findings on the relationship between family meal frequency and children's nutritional health are inconsistent. The reasons for these mixed results have to date remained largely unexplored. This systematic review and meta-analysis of 57 studies (203,706 participants) examines (i) the relationship between family meal frequency and various nutritional health outcomes and (ii) two potential explanations for the inconsistent findings: sociodemographic characteristics and mealtime characteristics. Separate meta-analyses revealed significant associations between higher family meal frequency and better overall diet quality (r = 0.13), more healthy diet (r = 0.10), less unhealthy diet (r = -0.04) and lower body mass index, BMI (r = -0.05). Child's age, country, number of family members present at meals and meal type (i.e. breakfast, lunch or dinner) did not moderate the relationship of meal frequency with healthy diet, unhealthy diet or BMI. Socioeconomic status only moderated the relationship with BMI. The findings show a significant relationship between frequent family meals and better nutritional health - in younger and older children, across countries and socioeconomic groups, and for meals taken with the whole family vs. one parent. Building on these findings, research can now target the causal direction of the relationship between family meal frequency and nutritional health. © 2018 World Obesity Federation.

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

    Science.gov (United States)

    Sólia-Nasser, L; de Aquino, S-N; Paranaíba, L-M R; Gomes, A; Dos-Santos-Neto, P; Coletta, R-D; Cardoso, A-F; Frota, A-C; Martelli-Júnior, H

    2016-05-01

    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. 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. 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. 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. 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.

  6. 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

  7. 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 within the Family Options randomized controlled trial that examined family-based interventions for...

  8. Genetic analysis of the cytoplasmic dynein subunit families.

    Science.gov (United States)

    Pfister, K Kevin; Shah, Paresh R; Hummerich, Holger; Russ, Andreas; Cotton, James; Annuar, Azlina Ahmad; King, Stephen M; Fisher, Elizabeth M C

    2006-01-01

    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.

  9. 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.

  10. Molecular analysis of the Duchenne muscular dystrophy gene in Spanish individuals: Deletion detection and familial diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Patino, A.; Garcia-Delgado, M.; Narbona, J. [Univ. of Navarra, Pamplona (Spain)

    1995-11-06

    Deletion studies were performed in 26 Duchenne muscular dystrophy (DMD) patients through amplification of nine different exons by multiplex polymerase chain reaction (PCR). DNA from paraffin-embedded muscle biopsies was analyzed in 12 of the 26 patients studied. Optimization of this technique is of great utility because it enables analysis of material stored in pathology archives. PCR deletion detection, useful in DMD-affected boys, is problematic in determining the carrier state in female relatives. For this reason, to perform familial linkage diagnosis, we made use of a dinucleotide repeat polymorphism (STRP, or short tandem repeat polymorphism) located in intron 49 of the gene. We designed a new pair of primers that enabled the detection of 22 different alleles in relatives in the 14 DMD families studied. The use of this marker allowed familial diagnosis in 11 of the 14 DMD families and detection of de novo deletions in 3 of the probands. 8 refs., 5 figs., 2 tabs.

  11. A Latent Profile Analysis of Latino Parenting: The Infusion of Cultural Values on Family Conflict.

    Science.gov (United States)

    Ayón, Cecilia; Williams, Lela Rankin; Marsiglia, Flavio F; Ayers, Stephanie; Kiehne, Elizabeth

    The purpose of the present study was to (a) examine how acculturation and social support inform Latinos' parenting behaviors, controlling for gender and education; (b) describe parenting styles among Latino immigrants while accounting for cultural elements; and (c) test how these parenting styles are associated with family conflict. A 3 step latent profile analysis with the sample ( N = 489) revealed best fit with a 4 profile model ( n = 410) of parenting: family parenting ( n = 268, 65%), child-centered parenting ( n = 68, 17%), moderate parenting ( n = 60, 15%), and disciplinarian parenting ( n = 14, 3%). Parents' gender, acculturation, and social support significantly predicted profile membership. Disciplinarian and moderate parenting were associated with more family conflict. Recommendations include integrating culturally based parenting practices as a critical element to family interventions to minimize conflict and promote positive youth development.

  12. Advanced x-ray stress analysis method for a single crystal using different diffraction plane families

    International Nuclear Information System (INIS)

    Imafuku, Muneyuki; Suzuki, Hiroshi; Sueyoshi, Kazuyuki; Akita, Koichi; Ohya, Shin-ichi

    2008-01-01

    Generalized formula of the x-ray stress analysis for a single crystal with unknown stress-free lattice parameter was proposed. This method enables us to evaluate the plane stress states with any combination of diffraction planes. We can choose and combine the appropriate x-ray sources and diffraction plane families, depending on the sample orientation and the apparatus, whenever diffraction condition is satisfied. The analysis of plane stress distributions in an iron single crystal was demonstrated combining with the diffraction data for Fe{211} and Fe{310} plane families

  13. Family perspectives on organ and tissue donation for transplantation: a principlist analysis.

    Science.gov (United States)

    Dos Santos, Marcelo José; Feito, Lydia

    2017-01-01

    The family interview context is permeated by numerous ethical issues which may generate conflicts and impact on organ donation process. This study aims to analyze the family interview process with a focus on principlist bioethics. This exploratory, descriptive study uses a qualitative approach. The speeches were collected using the following prompt: "Talk about the family interview for the donation of organs and tissues for transplantation, from the preparation for the interview to the decision of the family to donate or not." For the treatment of qualitative data, we chose the method of content analysis and categorical thematic analysis. The study involved 18 nurses who worked in three municipal organ procurement organizations in São Paulo, Brazil, and who conducted family interviews for organ donation. Ethical considerations: The data were collected after approval of the study by the Research Ethics Committee of the School of Nursing of the University of São Paulo. The results were classified into four categories and three subcategories. The categories are the principles adopted by principlist bioethics. The principles of autonomy, beneficence, non-maleficence, and justice permeate the family interview and reveal their importance in the organs and tissues donation process for transplantation. The analysis of family interviews for the donation of organs and tissues for transplantation with a focus on principlist bioethics indicates that the process involves many ethical considerations. The elucidation of these aspects contributes to the discussion, training, and improvement of professionals, whether nurses or not, who work in organ procurement organizations and can improve the curriculum of existing training programs for transplant coordinators who pursue ethics in donation and transplantation as their foundation.

  14. 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.

  15. [Analysis of gene mutation in a Chinese family with Norrie disease].

    Science.gov (United States)

    Zhang, Tian-xiao; Zhao, Xiu-li; Hua, Rui; Zhang, Jin-song; Zhang, Xue

    2012-09-01

    To detect the pathogenic mutation in a Chinese family with Norrie disease. Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence. The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members. Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation. His mother and other four unaffected members (III3, IV4, III5 and II2) were carriers of this mutation. The mutant amino acid located in the C-terminal cystine knot-like domain, which was critical motif for the structure and function of NDP. A NDP missense mutation was identified in a Chinese family with Norrie disease.

  16. De-standardization of family-life trajectories of young adults: a cross-national comparison using sequence analysis

    NARCIS (Netherlands)

    Elzinga, C.; Liefbroer, A.C.

    2007-01-01

    We introduce a number of new methods based on sequence analysis to test hypotheses on the de-standardization of family-life trajectories in early adulthood, using Fertility and Family Survey data on 19 countries. Across cohorts, family-life trajectories of young adults have not become more

  17. Analysis of Effect of Education Entrepreneurship and Family Environment Towards Interest Students Entrepreneurs

    Directory of Open Access Journals (Sweden)

    Periansya Periansya

    2018-03-01

    Full Text Available This research aims to analyze the effect of entrepreneurship education and family environment on entrepreneurial interest. The population in this research is State Polytechnic of Sriwijaya Palembang student.. Sampling technique uses sampling proportional technique. Sample consists of 375 students. Analysis method uses double linear regression analysis technique. The result shows that partially entrepreneurship education, family environment gives a positive and significant effect on entrepreneurial interest of State Polytechnic of Sriwijaya. Simultaneously, entrepreneurship education and family environment gives a positive and significant effect on entrepreneurial interest.. The conclusions in this research that the education needs to be orientating on practice, case study, and invite interviewees from companies or industries. The existence of industrial practice based on student competency also can enhance knowledge and insight of students where

  18. 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

    2018-03-01

    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.

  19. Bridging the Rural-Urban Literacy Gap in China: A Mediation Analysis of Family Effects

    Science.gov (United States)

    Wang, Jingying; Li, Hui; Wang, Dan

    2018-01-01

    This study examines the effects of family involvement on the literacy gap between rural and urban Chinese primary students via mediation analysis. Altogether, 1080 students in Grades 1, 3, and 5 were randomly sampled from three urban and three rural primary schools from Shandong and Guizhou Provinces, representing eastern and western China,…

  20. Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

    NARCIS (Netherlands)

    Soderhall, C.; Korberg, I.B.; Thai, H.T.; Cao, J.; Chen, Y; Zhang, X.; Shulu, Z.; Zanden, L.F.M. van der; Rooij, I.A.L.M. van; Frisen, L.; Roeleveld, N.; Markljung, E.; Kockum, I.; Nordenskjold, A.

    2015-01-01

    Hypospadias is a common male genital malformation and is regarded as a complex disease affected by multiple genetic as well as environmental factors. In a previous genome-wide scan for familial hypospadias, we reported suggestive linkage in nine chromosomal regions. We have extended this analysis by

  1. 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...

  2. Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

    Science.gov (United States)

    Shastry, B S; Hejtmancik, J F; Plager, D A; Hartzer, M K; Trese, M T

    1995-05-20

    Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been performed with three previously unreported three- or four-generation families. Two-point analysis showed linkage to MAOA (Zmax = 2.1, theta max = 0) and DXS228 (Zmax = 0.5, theta max = 0.11), and this was further confirmed by multipoint analysis with these same markers (Zmax = 2.81 at MAOA), which both lie near the gene causing Norrie disease. Molecular genetic analysis further reveals a missense mutation (R121W) in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family. This mutation was not detected in the unaffected family members and six normal unrelated controls, suggesting that it is likely to be the pathogenic mutation. Additionally, a polymorphic missense mutation (H127R) was detected in a severely affected patient.

  3. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

    NARCIS (Netherlands)

    Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon; Kenna, Kevin P.; Scotter, Emma L.; Kost, Jason; Keagle, Pamela; Miller, Jack W.; Calini, Daniela; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Tiloca, Cinzia; Al-Sarraj, Safa; Lewis, Elizabeth A.; King, Andrew; Colombrita, Claudia; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L. M. A.; Sapp, Peter C.; McKenna-Yasek, Diane; McLaughlin, Russell L.; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Simpson, Michael; van Rheenen, Wouter; Diekstra, Frank P.; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Morrison, Karen E.; Williams, Kelly L.; Nicholson, Garth A.; Blair, Ian P.; Dion, Patrick A.; Leblond, Claire S.; Rouleau, Guy A.; Hardiman, Orla; Veldink, Jan H.; van den Berg, Leonard H.

    2014-01-01

    Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an

  4. 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

  5. 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…

  6. Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis

    DEFF Research Database (Denmark)

    Riess, O; Weber, B; Nørremølle, Anne

    1992-01-01

    as to whether mutations in the human PDEB gene might cause LCA. We have previously cloned and characterized the human homologue of the mouse Pdeb gene and have mapped it to chromosome 4p16.3. In this study, a total of 23 LCA families of various ethnic backgrounds have been investigated. Linkage analysis using...

  7. Dispositional Variables and Work-Family Conflict: A Meta-Analysis

    Science.gov (United States)

    Allen, Tammy D.; Johnson, Ryan C.; Saboe, Kristin N.; Cho, Eunae; Dumani, Soner; Evans, Sarah

    2012-01-01

    Meta-analysis was used to comprehensively summarize the relationship between dispositional variables and both directions of work-family conflict. The largest effects detected were those associated with negative affect, neuroticism, and self-efficacy; all were in expected directions. In general, negative trait-based variables (e.g., negative affect…

  8. A meta-analysis of work-family conflict and social support.

    Science.gov (United States)

    French, Kimberly A; Dumani, Soner; Allen, Tammy D; Shockley, Kristen M

    2018-03-01

    The relationship between social support and work-family conflict is well-established, but the notion that different forms, sources, and types of social support as well as contextual factors can alter this relationship has been relatively neglected. To address this limitation, the current study provides the most comprehensive and in-depth examination of the relationship between social support and work-family conflict to date. We conduct a meta-analysis based on 1021 effect sizes and 46 countries to dissect the social support and work-family conflict relationship. Using social support theory as a theoretical framework, we challenge the assumption that social support measures are interchangeable by comparing work/family support relationships with work-family conflict across different support forms (behavior, perceptions), sources (e.g., supervisor, coworker, spouse), types (instrumental, emotional), and national contexts (cultural values, economic factors). National context hypotheses use a strong inferences paradigm in which utility and value congruence theoretical perspectives are pitted against one another. Significant results concerning support source are in line with social support theory, indicating that broad sources of support are more strongly related to work-family conflict than are specific sources of support. In line with utility perspective from social support theory, culture and economic national context significantly moderate some of the relationships between work/family support and work interference with family, indicating that social support is most beneficial in contexts in which it is needed or perceived as useful. The results suggest that organizational support may be the most important source of support overall. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  9. Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

    Science.gov (United States)

    Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E

    2008-01-01

    Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.

  10. A multimethod analysis of shared decision-making in hospice interdisciplinary team meetings including family caregivers.

    Science.gov (United States)

    Washington, Karla T; Oliver, Debra Parker; Gage, L Ashley; Albright, David L; Demiris, George

    2016-03-01

    Much of the existing research on shared decision-making in hospice and palliative care focuses on the provider-patient dyad; little is known about shared decision-making that is inclusive of family members of patients with advanced disease. We sought to describe shared decision-making as it occurred in hospice interdisciplinary team meetings that included family caregivers as participants using video-conferencing technology. We conducted a multimethod study in which we used content and thematic analysis techniques to analyze video-recordings of hospice interdisciplinary team meetings (n = 100), individual interviews of family caregivers (n = 73) and hospice staff members (n = 78), and research field notes. Participants in the original studies from which data for this analysis were drawn were hospice family caregivers and staff members employed by one of five different community-based hospice agencies located in the Midwestern United States. Shared decision-making occurred infrequently in hospice interdisciplinary team meetings that included family caregivers. Barriers to shared decision-making included time constraints, communication skill deficits, unaddressed emotional needs, staff absences, and unclear role expectations. The hospice philosophy of care, current trends in healthcare delivery, the interdisciplinary nature of hospice teams, and the designation of a team leader/facilitator supported shared decision-making. The involvement of family caregivers in hospice interdisciplinary team meetings using video-conferencing technology creates a useful platform for shared decision-making; however, steps must be taken to transform family caregivers from meeting attendees to shared decision-makers. © The Author(s) 2015.

  11. 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

  12. Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

    Science.gov (United States)

    Kapoor, Saketh; Bindu, Parayil Sankaran; Taly, Arun B; Sinha, Sanjib; Gayathri, Narayanappa; Rani, S Vasantha; Chandak, Giriraj Ratan; Kumar, Arun

    2012-01-01

    Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila) and SOX10 (SRY-box containing gene 10). Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. The purpose of this study was to identify the genetic causes of WS and DMD in an Indian family with two patients: one affected with WS and DMD, and another one affected with only WS. Blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to the eight known WS loci, microsatellite markers were selected from the candidate regions and used to genotype the family. Exon-specific intronic primers for EDN3 were used to amplify and sequence DNA samples from affected individuals to detect mutations. A mutation in DMD was identified by multiplex PCR and multiplex ligation-dependent probe amplification method using exon-specific probes. Pedigree analysis suggested segregation of WS as an autosomal recessive trait in the family. Haplotype analysis suggested linkage of the family to the WS4B (EDN3) locus. DNA sequencing identified a novel missense mutation p.T98M in EDN3. A deletion mutation was identified in DMD. This study reports a novel missense mutation in EDN3 and a deletion mutation in DMD in the same Indian family. The present study will be helpful in genetic diagnosis of this family and increases the mutation spectrum of EDN3.

  13. A cost-benefit analysis of the Mexican Social Security Administration's family planning program.

    Science.gov (United States)

    Nortman, D L; Halvas, J; Rabago, A

    1986-01-01

    A cost-benefit analysis of the family planning program of the Mexican Social Security System (IMSS) was undertaken to test the hypothesis that IMSS's family planning services yield a net savings to IMSS by reducing the load on its maternal and infant care service. The cost data are believed to be of exceptionally high quality because they were empirically ascertained by a retrospective and prospective survey of unit time and personnel costs per specified detailed type of service in 37 IMSS hospitals and 16 clinics in 13 of Mexico's 32 states. Based on the average cost per case, the analysis disclosed that for every peso (constant 1983 currency) that IMSS spent on family planning services to its urban population during 1972-1984 inclusive, the agency saved nine pesos. The article concludes by raising the speculative question as to the proportion of the births averted by the IMSS family planning program that would have been averted in the absence of IMSS's family planning services.

  14. 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.

  15. Seeking help for depression from family and friends: a qualitative analysis of perceived advantages and disadvantages.

    Science.gov (United States)

    Griffiths, Kathleen M; Crisp, Dimity A; Barney, Lisa; Reid, Russell

    2011-12-15

    People with depression often seek help from family and friends and public health campaigns frequently encourage such help seeking behaviours. However, there has been little systematically collected empirical data concerning the effects of such informal help seeking. The current study sought to investigate the views of consumers about the advantages and disadvantages of seeking support from family and friends for depression. Participants were the subset of 417 respondents to a survey, sent to 7000 randomly selected members of an Australian electoral community, who indicated that they had sought help for depression from family or friends. One item on the survey asked participants to indicate the advantages or disadvantages of seeking help from family or friends. A coding system was developed based on a content analysis of the responses to the item. Each of the responses was then coded by two raters. Respondents identified both advantages and disadvantages of seeking support from friends. The most commonly cited advantage was social support (n = 282) including emotional support (n = 154), informational support (n = 93), companionship support (n = 36) and instrumental support (n = 23). Other advantages related to family's or friend's background knowledge of the person and their circumstances (n = 72), the opportunity to offload the burden associated with depression (n = 62), the personal attributes of family and friends (n = 49), their accessibility (n = 36), and the opportunity to educate family and friends and increase their awareness about the respondent's depression (n = 30). The most commonly cited disadvantages were stigma (n = 53), inappropriate support (n = 45), the family member's lack of knowledge, training and expertise (n = 32) and the adverse impact of the help seeking on the family/friend (n = 20) and the relationship (n = 18). Family and friends are well placed to provide support which consumers perceive to be positive and which can assist them in

  16. Family caregiver learning--how family caregivers learn to provide care at the end of life: a qualitative secondary analysis of four datasets.

    Science.gov (United States)

    Stajduhar, Kelli I; Funk, Laura; Outcalt, Linda

    2013-07-01

    Family caregivers are assuming growing responsibilities in providing care to dying family members. Supporting them is fundamental to ensure quality end-of-life care and to buffer potentially negative outcomes, although family caregivers frequently acknowledge a deficiency of information, knowledge, and skills necessary to assume the tasks involved in this care. The aim of this inquiry was to explore how family caregivers describe learning to provide care to palliative patients. Secondary analysis of data from four qualitative studies (n = 156) with family caregivers of dying people. Data included qualitative interviews with 156 family caregivers of dying people. Family caregivers learn through the following processes: trial and error, actively seeking needed information and guidance, applying knowledge and skills from previous experience, and reflecting on their current experiences. Caregivers generally preferred and appreciated a supported or guided learning process that involved being shown or told by others, usually learning reactively after a crisis. Findings inform areas for future research to identify effective, individualized programs and interventions to support positive learning experiences for family caregivers of dying people.

  17. Family based association analysis of the IL2 and IL15 genes in allergic disorders

    DEFF Research Database (Denmark)

    Christensen, Ulla; Haagerup, Annette; Binderup, Helle

    2006-01-01

    ) identified in a family based association study of two Danish samples comprising a total of 235 families with allergic diseases. None of the IL15 SNPs showed significant association and the haplotype analysis yielded inconsistent results in the two samples. In contrast, the two IL2 SNPs showed association...... both separately and in haplotypes with several atopic phenotypes, most significantly with IgE-mediated allergy. (single SNP P-value 0.0005 for positive skin prick test, haplotype P-value 0.019 for positive RAST test). To our knowledge, this is the first study reporting association between IL2 and Ig...

  18. 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.

  19. Analysis of the WUSCHEL-RELATED HOMEOBOX gene family in Pinus pinaster: New insights into the gene family evolution.

    Science.gov (United States)

    Alvarez, José M; Bueno, Natalia; Cañas, Rafael A; Avila, Concepción; Cánovas, Francisco M; Ordás, Ricardo J

    2018-02-01

    WUSCHEL-RELATED HOMEOBOX (WOX) genes are key players controlling stem cells in plants and can be divided into three clades according to the time of their appearance during plant evolution. Our knowledge of stem cell function in vascular plants other than angiosperms is limited, they separated from gymnosperms ca 300 million years ago and their patterning during embryogenesis differs significantly. For this reason, we have used the model gymnosperm Pinus pinaster to identify WOX genes and perform a thorough analysis of their gene expression patterns. Using transcriptomic data from a comprehensive range of tissues and stages of development we have shown three major outcomes: that the P. pinaster genome encodes at least fourteen members of the WOX family spanning all the major clades, that the genome of gymnosperms contains a WOX gene with no homologues in angiosperms representing a transitional stage between intermediate- and WUS-clade proteins, and that we can detect discrete WUS and WOX5 transcripts for the first time in a gymnosperm. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. Genome-Wide Analysis, Classification, Evolution, and Expression Analysis of the Cytochrome P450 93 Family in Land Plants

    OpenAIRE

    Du, Hai; Ran, Feng; Dong, Hong-Li; Wen, Jing; Li, Jia-Na; Liang, Zhe

    2016-01-01

    Cytochrome P450 93 family (CYP93) belonging to the cytochrome P450 superfamily plays important roles in diverse plant processes. However, no previous studies have investigated the evolution and expression of the members of this family. In this study, we performed comprehensive genome-wide analysis to identify CYP93 genes in 60 green plants. In all, 214 CYP93 proteins were identified; they were specifically found in flowering plants and could be classified into ten subfamilies?CYP93A?K, with t...

  1. 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.

  2. Molecular analysis of the NDP gene in two families with Norrie disease.

    Science.gov (United States)

    Rivera-Vega, M Refugio; Chiñas-Lopez, Silvet; Vaca, Ana Luisa Jimenez; Arenas-Sordo, M Luz; Kofman-Alfaro, Susana; Messina-Baas, Olga; Cuevas-Covarrubias, Sergio Alberto

    2005-04-01

    To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND). We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan. Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND. Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.

  3. 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.

  4. 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

  5. Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

    2011-02-01

    Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

  6. Reproductive goals and family planning attitudes in Pakistan: a couple-level analysis.

    Science.gov (United States)

    Mahmood, N

    1998-01-01

    This paper examined reproductive goals and family planning attitudes at the couple level in Pakistan. Data were based on the responses of the 1260 matched couples in the 1990-91 Pakistan Demographic and Health Survey. The questions integrated in the interview were on desired fertility, family size ideas, son preference, and family planning attitude. Findings of the analysis showed that about 60% of the couples have given similar responses (agreeing either positively or negatively) to several fertility-related questions, whereas the remaining 40% differ in their attitudes. This divergence may partly be of the environmental factors such as spouse rural background, lack of education, and minimal communication between spouses. This implies that a couple's joint approval, discussion of family planning, and husband's desire for no more children have the strongest effect on promoting contraceptive use. Thus, it is concluded that the role of couple agreement is important in promoting the use of family planning, and men should be made equal targets of such programs in Pakistan.

  7. 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.

  8. Aspects of family caregiving as addressed in planned discussions between nurses, patients with chronic diseases and family caregivers: a qualitative content analysis.

    Science.gov (United States)

    Hagedoorn, E I; Paans, W; Jaarsma, T; Keers, J C; van der Schans, C; Luttik, M Louise

    2017-01-01

    Caregiving by family members of elderly with chronic conditions is currently intensifying in the context of an aging population and health care reform in the Netherlands. It is essential that nurses have attention for supporting roles of family caregivers of older patients and address family caregiving aspects on behalf of the continuity of care. This study aims to explore what aspects of family caregiving were addressed during planned discussions between nurses, patients and family caregivers in the hospital. Qualitative descriptive research was conducted using non-participant observation and audio-recordings of planned discussions between nurses, older patients and their family caregivers as they took place in the hospital. Through purposive sampling eligible patients (≥ 65 years) with one or more chronic conditions were included. These patients were admitted to the hospital for diagnostics or due to consequences of their chronic illness. Retrospective chart review was done to obtain patient characteristics. Data were collected in November/December 2013 and April/May 2014 in four hospitals. Qualitative content analysis was performed using the inductive approach in order to gain insight into addressed aspects of family caregiving. A total of 62 patients (mean age (SD) 76 years (7.2), 52% male) were included in the study, resulting in 146 planned discussions (62 admission and discharge discussions and 22 family meetings). Three themes were identified regarding addressed aspects of family caregiving. Two themes referred to aspects addressing the patients' social network, and included 'social network structure' and 'social network support'. One theme referred to aspects addressing coordination of care issues involving family caregiving, referred to as 'coordination of care'. During discussions nurses mostly addressed practical information on the patients' social network structure. When specific family caregiving support was addressed, information was limited and

  9. Nance-Horan syndrome: linkage analysis in a family from The Netherlands.

    Science.gov (United States)

    Bergen, A A; ten Brink, J; Schuurman, E J; Bleeker-Wagemakers, E M

    1994-05-01

    Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 (zmax = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses suggest the genetic order Xcen-DMD (exon 49)-DXS451-(NH, DXS207, DXS365, DXS43)-(STS, DXF30)-Xpter. These data refine the localization of the NH locus on the distal Xp.

  10. 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.

  11. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

    Science.gov (United States)

    Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

    2014-12-01

    To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

  12. The Situation Analysis Study of the family planning program in Kenya.

    Science.gov (United States)

    Miller, R A; Ndhlovu, L; Gachara, M M; Fisher, A A

    1991-01-01

    A new, relatively "quick and clean" operations research approach called a "situation analysis" was developed for examining the strengths and weaknesses of the family planning program of Kenya. Field research teams visited a stratified random sample of 99 of the Ministry of Health's approximately 775 service delivery points. Observation techniques and interviewing were used to collect information on program components and on the quality of care provided to new family planning clients during the observation day. As late as 1986, the Kenya program was rated "weak" and "poor" in the international literature. The Kenya Situation Analysis Study found a functioning, integrated maternal and child health/family planning program serving large numbers of clients, with an emphasis on oral contraceptives and Depo-Provera (and an underemphasis on permanent methods). Although a number of program problems were revealed by the study, overall, in terms of performance, a rating of "moderate" is suggested as more appropriate for Kenya's national family planning program today. In terms of the quality of care, a "moderate to moderate-high" rating is suggested.

  13. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

    International Nuclear Information System (INIS)

    Qian Yaping; Zhou Xiangtian; Hu Yongwu; Tong Yi; Li Ronghua; Lu Fan; Yang Huanming; Mo Junqin; Qu Jia; Guan Minxin

    2005-01-01

    We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%. Furthermore, the average age-at-onset in those Chinese families was 17, 20, and 18 years. In addition, the ratios between affected male and female matrilineal relatives in these Chinese families were 3:0, 1:1, and 1.2:1, respectively. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G11778A mutation associated with LHON in many families. The fact that mtDNA of those pedigrees belonged to different haplogroups F1, D4, and M10 suggested that the G11778A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. The I187T mutation in the ND1, the S99A mutation in the A6, the V254I in CO3, and I58V in ND6 mutation, showing high evolutional conservation, may contribute to the phenotypic expression of the G11778A mutation in the WZ6 pedigree. By contrast, none of mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence in WZ4 and WZ5 pedigrees. Apparently, these variants do not have a potential modifying role in the development of visual impairment associated with G11778A mutation in those two families. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation

  14. Patent landscape of neglected tropical diseases: an analysis of worldwide patent families.

    Science.gov (United States)

    Akinsolu, Folahanmi Tomiwa; de Paiva, Vitor Nobre; Souza, Samuel Santos; Varga, Orsolya

    2017-11-14

    "Neglected Tropical Diseases" (NTDs) affect millions of people in Africa, Asia and South America. The two primary ways of strategic interventions are "preventive chemotherapy and transmission control" (PCT), and "innovative and intensified disease management" (IDM). In the last 5 years, phenomenal progress has been achieved. However, it is crucial to intensify research effort into NTDs, because of the emerging drug resistance. According to the World Health Organization (WHO), the term NTDs covers 17 diseases, namely buruli ulcer, Chagas disease, dengue, dracunculiasis, echinococcosis, trematodiasis, human African trypanosomiasis, leishmaniasis, leprosy, lymphatic filariasis, onchocerciasis, rabies, schistosomiasis, soil-transmitted helminthes, taeniasis, trachoma, and yaws. The aim of this study is to map out research and development (R&D) landscape through patent analysis of these identified NTDs. To achieve this, analysis and evaluation have been conducted on patenting trends, current legal status of patent families, priority countries by earliest priority years and their assignee types, technological fields of patent families over time, and original and current patent assignees. Patent families were extracted from Patseer, an international database of patents from over 100 patent issuing authorities worldwide. Evaluation of the patents was carried out using the combination of different search terms related to each identified NTD. In this paper, a total number of 12,350 patent families were analyzed. The main countries with sources of inventions were identified to be the United States (US) and China. The main technological fields covered by NTDs patent landscape are pharmaceuticals, biotechnology, organic fine chemistry, analysis of biological materials, basic materials chemistry, and medical technology. Governmental institutions and universities are the primary original assignees. Among the NTDs, leishmaniasis, dengue, and rabies received the highest number of

  15. EKG analysis skills of family practice residents in the United Arab Emirates: a comparison with US data.

    Science.gov (United States)

    Margolis, S; Reed, R

    2001-06-01

    Concern has been raised about the electrocardiogram (EKG) analysis skills of family practice residents in the United States. This study examined EKG analysis skills of family practice residents, medical students, interns, and general practitioners (GPs) in the United Arab Emirates (UAE), a different environment. The measurement instrument was a set of 10 EKGs, used in a study of US family practice residents. Two of the EKGs were normal, and there were 14 clinical abnormalities in the remainder. There was no significant difference in the correct diagnosis of acute myocardial infarction between US family practice residents and UAE family practice residents, medical students, or GPs. Interns' diagnoses were significantly poorer. The mean score for correctly identifying acute myocardial infarction and both normal EKGs was not significantly different between groups: 2.50 medical students, 2.35 interns, 2.58 UAE family practice residents, 2.67 FD, and 2.55 US family practice residents. However, the US family practice resident mean score of 11.26 for all 16 clinical findings was significantly higher than any group in the UAE: 5.35 medical students, 5.87 interns, 6.08 UAE family practice residents, 5.69 family physicians. Difficulty in EKG interpretation transcends geographic boundaries, suggesting that new approaches to teaching these skills need to be explored. Improved EKG reading skills by family physicians are generally needed in both the United States and the UAE.

  16. Genome-wide analysis of SINA family in plants and their phylogenetic relationships.

    Science.gov (United States)

    Wang, Meng; Jin, Ying; Fu, Junjie; Zhu, Yun; Zheng, Jun; Hu, Jian; Wang, Guoying

    2008-06-01

    SINA genes in plants are part of a multigene family with 5 members in Arabidopsis thaliana, 10 members in Populus trichocarpa, 6 members in Oryza sativa, at least 6 members in Zea mays and at least 1 member in Physcomitrella patens. Six members in maize were confirmed by RT-PCR. All SINAs have one RING domain and one SINA domain. These two domains are highly conserved in plants. According to the motif organization and phylogenetic tree, SINA family members were divided into 2 groups. In addition, through semi-quantitative RT-PCR analysis of maize members and Digital Northern analysis of Arabidopsis and rice members, we found that the tissue expression patterns are more diverse in monocot than in Arabidopsis.

  17. Fidelity Failures in Brief Strategic Family Therapy for Adolescent Drug Abuse: A Clinical Analysis.

    Science.gov (United States)

    Lebensohn-Chialvo, Florencia; Rohrbaugh, Michael J; Hasler, Brant P

    2018-04-30

    As evidence-based family treatments for adolescent substance use and conduct problems gain traction, cutting edge research moves beyond randomized efficacy trials to address questions such as how these treatments work and how best to disseminate them to community settings. A key factor in effective dissemination is treatment fidelity, which refers to implementing an intervention in a manner consistent with an established manual. While most fidelity research is quantitative, this study offers a qualitative clinical analysis of fidelity failures in a large, multisite effectiveness trial of Brief Strategic Family Therapy (BSFT) for adolescent drug abuse, where BSFT developers trained community therapists to administer this intervention in their own agencies. Using case notes and video recordings of therapy sessions, an independent expert panel first rated 103 cases on quantitative fidelity scales grounded in the BSFT manual and the broader structural-strategic framework that informs BSFT intervention. Because fidelity was generally low, the panel reviewed all cases qualitatively to identify emergent types or categories of fidelity failure. Ten categories of failures emerged, characterized by therapist omissions (e.g., failure to engage key family members, failure to think in threes) and commissions (e.g., off-model, nonsystemic formulations/interventions). Of these, "failure to think in threes" appeared basic and particularly problematic, reflecting the central place of this idea in structural theory and therapy. Although subject to possible bias, our observations highlight likely stumbling blocks in exporting a complex family treatment like BSFT to community settings. These findings also underscore the importance of treatment fidelity in family therapy research. © 2018 Family Process Institute.

  18. Comprehensive analysis of the mutation spectrum in 301 German ALS families.

    Science.gov (United States)

    Müller, Kathrin; Brenner, David; Weydt, Patrick; Meyer, Thomas; Grehl, Torsten; Petri, Susanne; Grosskreutz, Julian; Schuster, Joachim; Volk, Alexander E; Borck, Guntram; Kubisch, Christian; Klopstock, Thomas; Zeller, Daniel; Jablonka, Sibylle; Sendtner, Michael; Klebe, Stephan; Knehr, Antje; Günther, Kornelia; Weis, Joachim; Claeys, Kristl G; Schrank, Berthold; Sperfeld, Anne-Dorte; Hübers, Annemarie; Otto, Markus; Dorst, Johannes; Meitinger, Thomas; Strom, Tim M; Andersen, Peter M; Ludolph, Albert C; Weishaupt, Jochen H

    2018-04-12

    Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions. Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome sequencing to obtain a comprehensive profile of genetic variants in ALS disease genes in 301 German pedigrees with familial ALS. We report C9orf72 mutations as well as variants in consensus splice sites and non-synonymous variants in protein-coding regions of ALS genes. We furthermore estimate their pathogenicity by taking into account type and frequency of the respective variant as well as segregation within the families. 49% of our German ALS families carried a likely pathogenic variant in at least one of the earlier identified ALS genes. In 45% of the ALS families, likely pathogenic variants were detected in C9orf72, SOD1, FUS, TARDBP or TBK1 , whereas the relative contribution of the other ALS genes in this familial ALS cohort was 4%. We identified several previously unreported rare variants and demonstrated the absence of likely pathogenic variants in some of the recently described ALS disease genes. We here present a comprehensive genetic characterisation of German familial ALS. The present findings are of importance for genetic counselling in clinical practice, for molecular research and for the design of diagnostic gene panels or genotype-specific therapeutic interventions in Europe. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. 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.

  20. Women's job quality across family life stages: An analysis of female employees across 27 European countries

    OpenAIRE

    Piasna, A.; Plagnol, A.

    2017-01-01

    There is little empirical evidence on how working conditions affect women’s employment and fertility choices, despite a number of studies on the impact of individual-level and institutional factors. The article addresses this gap by examining how family life stages are related to particular aspects of job quality among employed women in 27 European countries. The central argument of the analysis is that high-quality jobs are conducive to both transitions to motherhood and employment after chi...

  1. Familial aggregation and linkage analysis with covariates for metabolic syndrome risk factors.

    Science.gov (United States)

    Naseri, Parisa; Khodakarim, Soheila; Guity, Kamran; Daneshpour, Maryam S

    2018-06-15

    Mechanisms of metabolic syndrome (MetS) causation are complex, genetic and environmental factors are important factors for the pathogenesis of MetS In this study, we aimed to evaluate familial and genetic influences on metabolic syndrome risk factor and also assess association between FTO (rs1558902 and rs7202116) and CETP(rs1864163) genes' single nucleotide polymorphisms (SNP) with low HDL_C in the Tehran Lipid and Glucose Study (TLGS). The design was a cross-sectional study of 1776 members of 227 randomly-ascertained families. Selected families contained at least one affected metabolic syndrome and at least two members of the family had suffered a loss of HDL_C according to ATP III criteria. In this study, after confirming the familial aggregation with intra-trait correlation coefficients (ICC) of Metabolic syndrome (MetS) and the quantitative lipid traits, the genetic linkage analysis of HDL_C was performed using conditional logistic method with adjusted sex and age. The results of the aggregation analysis revealed a higher correlation between siblings than between parent-offspring pairs representing the role of genetic factors in MetS. In addition, the conditional logistic model with covariates showed that the linkage results between HDL_C and three marker, rs1558902, rs7202116 and rs1864163 were significant. In summary, a high risk of MetS was found in siblings confirming the genetic influences of metabolic syndrome risk factor. Moreover, the power to detect linkage increases in the one parameter conditional logistic model regarding the use of age and sex as covariates. Copyright © 2018. Published by Elsevier B.V.

  2. Genome-Wide Identification and Analysis of the TIFY Gene Family in Grape

    Science.gov (United States)

    Zhang, Yucheng; Gao, Min; Singer, Stacy D.; Fei, Zhangjun; Wang, Hua; Wang, Xiping

    2012-01-01

    Background The TIFY gene family constitutes a plant-specific group of genes with a broad range of functions. This family encodes four subfamilies of proteins, including ZML, TIFY, PPD and JASMONATE ZIM-Domain (JAZ) proteins. JAZ proteins are targets of the SCFCOI1 complex, and function as negative regulators in the JA signaling pathway. Recently, it has been reported in both Arabidopsis and rice that TIFY genes, and especially JAZ genes, may be involved in plant defense against insect feeding, wounding, pathogens and abiotic stresses. Nonetheless, knowledge concerning the specific expression patterns and evolutionary history of plant TIFY family members is limited, especially in a woody species such as grape. Methodology/Principal Findings A total of two TIFY, four ZML, two PPD and 11 JAZ genes were identified in the Vitis vinifera genome. Phylogenetic analysis of TIFY protein sequences from grape, Arabidopsis and rice indicated that the grape TIFY proteins are more closely related to those of Arabidopsis than those of rice. Both segmental and tandem duplication events have been major contributors to the expansion of the grape TIFY family. In addition, synteny analysis between grape and Arabidopsis demonstrated that homologues of several grape TIFY genes were found in the corresponding syntenic blocks of Arabidopsis, suggesting that these genes arose before the divergence of lineages that led to grape and Arabidopsis. Analyses of microarray and quantitative real-time RT-PCR expression data revealed that grape TIFY genes are not a major player in the defense against biotrophic pathogens or viruses. However, many of these genes were responsive to JA and ABA, but not SA or ET. Conclusion The genome-wide identification, evolutionary and expression analyses of grape TIFY genes should facilitate further research of this gene family and provide new insights regarding their evolutionary history and regulatory control. PMID:22984514

  3. Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

    Science.gov (United States)

    Bourbon, Mafalda; Alves, Ana Catarina; Alonso, Rodrigo; Mata, Nelva; Aguiar, Pedro; Padró, Teresa; Mata, Pedro

    2017-07-01

    Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families. Statistical analysis was performed using SPSS v23. A total of 194 variants have been detected in this study, 24 of them were never described before. About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have a more severe phenotype than patients with defective variants, presenting with significantly higher levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B). This study shows the molecular characteristics of the FH patients included in the SAFEHEART registry and the relationship with the phenotypic expression. The majority of the genetic variants are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the entry and follow-up data analysis performed with this registry concerning FH patients' prognosis, treatment and survival. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Reverse Conservation Analysis Reveals the Specificity Determining Residues of Cytochrome P450 Family 2 (CYP 2

    Directory of Open Access Journals (Sweden)

    Tai-Sung Lee

    2008-01-01

    Full Text Available The concept of conservation of amino acids is widely used to identify important alignment positions of orthologs. The assumption is that important amino acid residues will be conserved in the protein family during the evolutionary process. For paralog alignment, on the other hand, the opposite concept can be used to identify residues that are responsible for specificity. Assuming that the function-specific or ligand-specific residue positions will have higher diversity since they are under evolutionary pressure to fit the target specificity, these function-specific or ligand-specific residues positions will have a lower degree of conservation than other positions in a highly conserved paralog alignment. This study assessed the ability of reverse conservation analysis to identify function-specific and ligand-specific residue positions in closely related paralog. Reverse conservation analysis of paralog alignments successfully identified all six previously reported substrate recognition sites (SRSs in cytochrome P450 family 2 (CYP 2. Further analysis of each subfamily identified the specificity-determining residues (SDRs that have been experimentally found. New potential SDRs were also predicted and await confirmation by further experiments or modeling calculations. This concept may be also applied to identify SDRs in other protein families.

  5. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

    Science.gov (United States)

    Astuto, L M; Weston, M D; Carney, C A; Hoover, D M; Cremers, C W; Wagenaar, M; Moller, C; Smith, R J; Pieke-Dahl, S; Greenberg, J; Ramesar, R; Jacobson, S G; Ayuso, C; Heckenlively, J R; Tamayo, M; Gorin, M B; Reardon, W; Kimberling, W J

    2000-12-01

    Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.

  6. Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa

    Science.gov (United States)

    Pan, Xinyuan; Chen, Xue; Liu, Xiaoxing; Gao, Xiang; Kang, Xiaoli; Xu, Qihua; Chen, Xuejuan; Zhao, Kanxing; Zhang, Xiumei; Chu, Qiaomei; Wang, Xiuying

    2014-01-01

    Purpose Seven genes involved in precursor mRNA (pre-mRNA) splicing have been implicated in autosomal dominant retinitis pigmentosa (adRP). We sought to detect mutations in all seven genes in Chinese families with RP, to characterize the relevant phenotypes, and to evaluate the prevalence of mutations in splicing genes in patients with adRP. Methods Six unrelated families from our adRP cohort (42 families) and two additional families with RP with uncertain inheritance mode were clinically characterized in the present study. Targeted sequence capture with next-generation massively parallel sequencing (NGS) was performed to screen mutations in 189 genes including all seven pre-mRNA splicing genes associated with adRP. Variants detected with NGS were filtered with bioinformatics analyses, validated with Sanger sequencing, and prioritized with pathogenicity analysis. Results Mutations in pre-mRNA splicing genes were identified in three individual families including one novel frameshift mutation in PRPF31 (p.Leu366fs*1) and two known mutations in SNRNP200 (p.Arg681His and p.Ser1087Leu). The patients carrying SNRNP200 p.R681H showed rapid disease progression, and the family carrying p.S1087L presented earlier onset ages and more severe phenotypes compared to another previously reported family with p.S1087L. In five other families, we identified mutations in other RP-related genes, including RP1 p. Ser781* (novel), RP2 p.Gln65* (novel) and p.Ile137del (novel), IMPDH1 p.Asp311Asn (recurrent), and RHO p.Pro347Leu (recurrent). Conclusions Mutations in splicing genes identified in the present and our previous study account for 9.5% in our adRP cohort, indicating the important role of pre-mRNA splicing deficiency in the etiology of adRP. Mutations in the same splicing gene, or even the same mutation, could correlate with different phenotypic severities, complicating the genotype–phenotype correlation and clinical prognosis. PMID:24940031

  7. [Genome-wide identification and expression analysis of the WRKY gene family in peach].

    Science.gov (United States)

    Gu, Yan-bing; Ji, Zhi-rui; Chi, Fu-mei; Qiao, Zhuang; Xu, Cheng-nan; Zhang, Jun-xiang; Zhou, Zong-shan; Dong, Qing-long

    2016-03-01

    The WRKY transcription factors are one of the largest families of transcriptional regulators and play diverse regulatory roles in biotic and abiotic stresses, plant growth and development processes. In this study, the WRKY DNA-binding domain (Pfam Database number: PF03106) downloaded from Pfam protein families database was exploited to identify WRKY genes from the peach (Prunus persica 'Lovell') genome using HMMER 3.0. The obtained amino acid sequences were analyzed with DNAMAN 5.0, WebLogo 3, MEGA 5.1, MapInspect and MEME bioinformatics softwares. Totally 61 peach WRKY genes were found in the peach genome. Our phylogenetic analysis revealed that peach WRKY genes were classified into three Groups: Ⅰ, Ⅱ and Ⅲ. The WRKY N-terminal and C-terminal domains of Group Ⅰ (group I-N and group I-C) were monophyletic. The Group Ⅱ was sub-divided into five distinct clades (groupⅡ-a, Ⅱ-b, Ⅱ-c, Ⅱ-d and Ⅱ-e). Our domain analysis indicated that the WRKY regions contained a highly conserved heptapeptide stretch WRKYGQK at its N-terminus followed by a zinc-finger motif. The chromosome mapping analysis showed that peach WRKY genes were distributed with different densities over 8 chromosomes. The intron-exon structure analysis revealed that structures of the WRKY gene were highly conserved in the peach. The conserved motif analysis showed that the conserved motifs 1, 2 and 3, which specify the WRKY domain, were observed in all peach WRKY proteins, motif 5 as the unknown domain was observed in group Ⅱ-d, two WRKY domains were assigned to GroupⅠ. SqRT-PCR and qRT-PCR results indicated that 16 PpWRKY genes were expressed in roots, stems, leaves, flowers and fruits at various expression levels. Our analysis thus identified the PpWRKY gene families, and future functional studies are needed to reveal its specific roles.

  8. Psychological Trauma in the Context of Familial Relationships: A Concept Analysis.

    Science.gov (United States)

    Isobel, Sophie; Goodyear, Melinda; Foster, Kim

    2017-01-01

    Many forms of psychological trauma are known to develop interpersonally within important relationships, particularly familial. Within the varying theoretical constructs of psychological traumas, and distinct from the processes of diagnosis, there is a need to refine the scope and definitions of psychological traumas that occur within important familial relationships to ensure a cohesive evidence base and fidelity of the concept in application to practice. This review used a philosophical inquiry methodology of concept analysis to identify the definitions, antecedents, characteristics, and consequences of the varying conceptualizations of psychological trauma occurring within important relationships. Interactions between concepts of interpersonal trauma, relational trauma, betrayal trauma, attachment trauma, developmental trauma, complex trauma, cumulative trauma, and intergenerational trauma are presented. Understanding of the discrete forms and pathways of transmission of psychological trauma between individuals, including transgenerationally within families, creates opportunities for prevention and early intervention within trauma-focused practice. This review found that concepts of psychological trauma occurring within familial relationships are not exclusive of each other but overlap in their encompassment of events and circumstances as well as the effect on individuals of events in the short term and long term. These traumas develop and are transmitted in the space between people, both purposefully and incidentally, and have particularly profound effects when they involve a dependent infant or child. Linguistic and conceptual clarity is paramount for trauma research and practice.

  9. 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.

  10. An Analysis of Strategic Marketing Practices of High-Growth U.S. Family Firms

    Directory of Open Access Journals (Sweden)

    Nancy Upton

    2004-10-01

    Full Text Available This paper presents an analysis of strategic marketing factors of Fast Growth family firms from the United States. Data reveal that Fast Growth Family Firms (FGFFs prefer a differentiation strategy in general and are more likely to adopt an early follower strategy when marketing new products or services. We found that rely on existing products, those that are older than three years to a great extent. However, they commit almost a third of sales to new products and services revealing that the businesses are adept at finding subsequent products and services to maintain their momentum in the marketplace. Further, it seems that about a third of new products are sustaining the hyper-growth rate of these firms. In addition to finding new products and services, fast growth family businesses must pursue new customers. Although some researchers have pointed to globalization as the impetus for fast growth, others have noted that family firms avoid the global marketplace. Our sample reveals that U.S. FGFFs are most likely to gain the majority of sales within the U.S. We found international sales significantly correlated with several factors including having an outsider on the board of directors and the use of agents and brokers.

  11. [Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome].

    Science.gov (United States)

    Li, Pengcheng; Liu, Fei; Zhang, Mingchang; Wang, Qiufen; Liu, Mugen

    2015-08-01

    To investigate the disease-causing mutation in a Chinese family affected with Usher syndrome type II. All of the 11 members from the family underwent comprehensive ophthalmologic examination and hearing test, and their genomic DNA were isolated from venous leukocytes. PCR and direct sequencing of USH2A gene were performed for the proband. Wild type and mutant type minigene vectors containing exon 42, intron 42 and exon 43 of the USH2A gene were constructed and transfected into Hela cells by lipofectamine reagent. Reverse transcription (RT)-PCR was carried out to verify the splicing of the minigenes. Pedigree analysis and clinical diagnosis indicated that the patients have suffered from autosomal recessive Usher syndrome type II. DNA sequencing has detected a homozygous c.8559-2A>G mutation of the USH2A gene in the proband, which has co-segregated with the disease in the family. The mutation has affected a conserved splice site in intron 42, which has led to inactivation of the splice site. Minigene experiment has confirmed the retaining of intron 42 in mature mRNA. The c.8559-2A>G mutation in the USH2A gene probably underlies the Usher syndrome type II in this family. The splice site mutation has resulted in abnormal splicing of USH2A pre-mRNA.

  12. [Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

    Science.gov (United States)

    Li, Long; Ma, Na; Li, Xiu-Rong; Gong, Fei; DU, Juan

    2016-08-01

    To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.

  13. 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.

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

    Science.gov (United States)

    2012-01-01

    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 their expression analysis

  15. 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

  16. [Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].

    Science.gov (United States)

    Tang, F; Huang, Y L; Jiang, X; Jia, X F; Li, B; Feng, Y; Chen, Q Y; Tang, C F

    2018-05-02

    Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PDblood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PDT, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PDblood cells were 95.5%, 97.2%, respectively. Conclusions: The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will

  17. Risk of herpes zoster and family history: A Meta-analysis of case–control studies

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    Yi Chun Lai

    2016-01-01

    Full Text Available Background: Herpes zoster (HZ results from the reactivation of latent varicella zoster virus (VZV residing in dorsal root and cranial nerve ganglia. Advanced age and dysfunctional cell-mediated immune responses are well-established risk factors for VZV reactivation. There have been recent interests in whether there is an increased risk of the disease associated with a positive family history. Aims and Objectives: We aimed to conduct a meta-analysis to evaluate the association between HZ infection and family history. In addition, we investigated the dose-response relationship between HZ infection and the number of relatives with a history of HZ. Materials and Methods: Observational studies were searched from MEDLINE, EMBASE, and Cochrane Central Register from inception to April 15, 2015. The Meta-analysis of Observational Studies in Epidemiology guidelines were followed in conducting this study. To estimate the pooled odds ratio, random-effects model of DerSimonian and Laird was used. Heterogeneity between studies was assessed using the I2 statistic. A dose-response meta-analysis with studies that reported appropriate data were done using the generalized least squares for trend method. Results: Five studies, yielding a total of 4169 subjects, were identified for meta-analysis. Cases with HZ were 3.03 (95% confidence interval [CI]: 1.86–4.94, P < 0.001 and 3.27 (95% CI: 1.75–6.10, P < 0.001 times more likely to report the first-degree relatives and total relatives with a history of HZ, respectively. A significant positive dose-response relationship between the risk of HZ infection and the number of relatives with a history of HZ was also demonstrated (P < 0.001. Conclusions: This meta-analysis demonstrated that family history is a significant risk factor for HZ infection. This risk has a dose-response relationship with the number of relatives with a history of HZ.

  18. 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

  19. Multilocus Sequence Analysis of Cercospora spp. from Different Host Plant Families

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    Floreta Fiska Yuliarni

    2014-06-01

    Full Text Available Identification of the genus Cercospora is still complicated due to the host preferences often being used as the main criteria to propose a new name. We determined the relationship between host plants and multilocus sequence variations (ITS rDNA including 5.8S rDNA, elongation factor 1-α, and calmodulin in Cercospora spp. to investigate the host specificity. We used 53 strains of Cercospora spp. infecting 12 plant families for phylogenetic analysis. The sequences of 23 strains of Cercospora spp. infecting the plant families of Asteraceae, Cucurbitaceae, and Solanaceae were determined in this study. The sequences of 30 strains of Cercospora spp. infecting the plant families of Fabaceae, Amaranthaceae, Apiaceae, Plumbaginaceae, Malvaceae, Cistaceae, Plantaginaceae, Lamiaceae, and Poaceae were obtained from GenBank. The molecular phylogenetic analysis revealed that the majority of Cercospora species lack host specificity, and only C. zinniicola, C. zeina, C. zeae-maydis, C. cocciniae, and C. mikaniicola were found to be host-specific. Closely related species of Cercospora could not be distinguished using molecular analyses of ITS, EF, and CAL gene regions. The topology of the phylogenetic tree based on the CAL gene showed a better topology and Cercospora species separation than the trees developed based on the ITS rDNA region or the EF gene.

  20. Factor analysis of the Zarit Burden Interview in family caregivers of patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Oh, Juyeon; Kim, Jung A

    2018-02-01

    The Zarit Burden Interview has been used in many studies to assess caregiver burden in family caregivers of patients with amyotrophic lateral sclerosis, but the factor structure of the Zarit Burden Interview in the caregivers of amyotrophic lateral sclerosis patients is unknown. The aim of this study was to explore the factor structure of the Zarit Burden Interview in family caregivers of amyotrophic lateral sclerosis patients using exploratory factor analysis. The exploratory factor analysis was performed using generalized least squares with oblique rotation in a sample of 202 family caregivers. Three factors had an eigenvalue greater than 1 and accounted for 60.33% of the total variance. The three factors were named as follows: (factor 1) "Social restrictions" (items 2, 3, and 10-15); (factor 2) "Self-criticism" (items 20-21); and (factor 3) "Anger and frustration" (items 1, 4-6, 9, and 16-19). The correlation between factors 1 and 3 was much higher (r = 0.79) than that between factors 1 and 2 (r = 0.14) or factors 2 and 3 (r = 0.15). The findings of this study enriched our understanding of several meaningful dimensions of the caregiving burden in caregivers of an amyotrophic lateral sclerosis population and provided opportunities for future intervention.

  1. [Genome-wide identification and bioinformatic analysis of PPR gene family in tomato].

    Science.gov (United States)

    Ding, Anming; Li, Ling; Qu, Xu; Sun, Tingting; Chen, Yaqiong; Zong, Peng; Li, Zunqiang; Gong, Daping; Sun, Yuhe

    2014-01-01

    Pentatricopeptide repeats (PPRs) genes constitute one of the largest gene families in plants, which play a broad and essential role in plant growth and development. In this study, the protein sequences annotated by the tomato (S. lycopersicum L.) genome project were screened with the Pfam PPR sequences. A total of 471 putative PPR-encoding genes were identified. Based on the motifs defined in A. thaliana L., protein structure and conserved sequences for each tomato motif were analyzed. We also analyzed phylogenetic relationship, subcellular localization, expression and GO analysis of the identified gene sequences. Our results demonstrate that tomato PPR gene family contains two subfamilies, P and PLS, each accounting for half of the family. PLS subfamily can be divided into four subclasses i.e., PLS, E, E+ and DYW. Each subclass of sequences forms a clade in the phylogenetic tree. The PPR motifs were found highly conserved among plants. The tomato PPR genes were distributed over 12 chromosomes and most of them lack introns. The majority of PPR proteins harbor mitochondrial or chloroplast localization sequences, whereas GO analysis showed that most PPR proteins participate in RNA-related biological processes.

  2. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism.

    Science.gov (United States)

    Tomiyama, Hiroyuki; Li, Yuanzhe; Yoshino, Hiroyo; Mizuno, Yoshikuni; Kubo, Shin-Ichiro; Toda, Tatsushi; Hattori, Nobutaka

    2009-05-22

    DJ-1 mutations cause autosomal recessive parkinsonism (ARP). Although some reports of DJ-1 mutations have been published, there is lack of information on the prevalence of these mutations in large-scale studies of both familial and sporadic parkinsonism. In this genetic screening study, we analyzed the distribution and frequency of DJ-1 mutations by direct nucleotide sequencing of coding exons and exon-intron boundaries of DJ-1, in 386 parkin-negative parkinsonism patients (371 index cases: 67 probands of autosomal recessive parkinsonism families, 90 probands of autosomal dominant parkinsonism families, 201 patients with sporadic parkinsonism, and 13 with unknown family histories) from 12 countries (Japan 283, China 27, Taiwan 22, Korea 22, Israel 16, Turkey 5, Philippines 2, Bulgaria 2, Greece 2, Tunisia 1, USA 2, Ukraine 1, unknown 1). None had causative mutation in DJ-1, suggesting DJ-1 mutation is very rare among patients with familial and sporadic parkinsonism from Asian countries and those with other ethnic background. This is in contrast to the higher frequencies and worldwide distribution of parkin- and PINK1-related parkinsonism in ARP and sporadic parkinsonism. Thus, after obtaining clinical information, screening for mutations in (1) parkin, (2) PINK1, (3) DJ-1, (4) ATP13A2 should be conducted in that order, in ARP and sporadic parkinsonism, based on their reported frequencies. In addition, haplotype analysis should be employed to check for homozygosity of 1p36, which harbors a cluster of causative genes for ARP such as DJ-1, PINK1 and ATP13A2 in ARP and sporadic parkinsonism, especially in parkinsonism with consanguinity.

  3. Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

    Science.gov (United States)

    Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Ramzan, Khushnooda; Bhinder, Munir Ahmad; Shakeel, Hussain; Iqbal, Muhammad; Aslam, Asim; Shehzad, Wasim; Cheema, Huma Arshad; Rehman, Habib

    2017-10-26

    Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years. All FBP1 exonic regions including splicing sites were PCR-amplified and sequenced bidirectionally. Familial cosegregation of mutations with disease was confirmed by direct sequencing and PCR-RFLP analysis. Three different FBP1 mutations were identified. Each of two previously reported mutations (c.472C>T (p.Arg158Trp) and c.841G>A (p.Glu281Lys)) was carried by four different families. The ninth family carried a novel 4-bp deletion (c.609_612delAAAA), which is predicted to result in frameshift (p.Lys204Argfs*72) and loss of FBPase function. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. FBPase deficiency is often fatal in the infancy and early childhood. Early diagnosis and prompt treatment is therefore crucial to preventing early mortality. We recommend the use of c.472C>T and c.841G>A mutations as first choice genetic markers for molecular diagnosis of FBPase deficiency in Pakistan.

  4. Analysis of substructural variation in families of enzymatic proteins with applications to protein function prediction

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    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

  5. [Genetic analysis of a family with Von Hippel-Lindau syndrome].

    Science.gov (United States)

    Lafuente-Sanchis, Aránzazu; Cuevas, José M; Alemany, Pilar; Cremades, Antonio; Zúñiga, Ángel

    Von Hippel-Lindau syndrome (VHL) is an autosomal dominant inherited disease associated with mutations in the VHL tumour suppressor gene located on chromosome 3p25. VHL is characterized by the development of multiple malignant and benign tumours in the central nervous system and internal organs, including liver, pancreas and the adrenal gland. More than 823 different mutations of the VHL gene have currently been identified. In the present study we describe the case of a family affected by VHL treated at the University Hospital of La Ribera and the results of the genetic analysis of three relatives, identifying the mutation R167G in exon 3 of VHL gene as the cause of VHL syndrome in this family. Copyright © 2016 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Strategies Used by Foreign-Born Family Therapists to Connect Across Cultural Differences: A Thematic Analysis.

    Science.gov (United States)

    Niño, Alba; Kissil, Karni; Davey, Maureen P

    2016-01-01

    With the growing diversity in the United States among both clinicians and clients, many therapeutic encounters are cross-cultural, requiring providers to connect across cultural differences. Foreign-born therapists have many areas of differences to work through. Thus, exploring how foreign-born family therapists in the United States connect to their clients can uncover helpful strategies that all therapists can use to establish stronger cross-cultural therapeutic connections. A thematic analysis was conducted to understand strategies 13 foreign-born therapists used during therapeutic encounters. Four themes were identified: making therapy a human-to-human connection, dealing with stereotypes, what really matters, and flexibility. Findings suggest that developing a deep therapeutic connection using emotional attunement and human-to-human engagement is crucial for successful cross-cultural therapy. Clinical and training implications are provided. © 2015 American Association for Marriage and Family Therapy.

  7. 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…

  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. Birth order and preschool children's cooperative abilities: A within-family analysis.

    Science.gov (United States)

    Prime, Heather; Plamondon, André; Jenkins, Jennifer M

    2017-09-01

    There is evidence for a laterborn sibling advantage in some social skills, although this has not been investigated in children's early capacities for cooperation. Using a within-family design, this study compared firstborn and laterborn (i.e., middle and youngest) siblings on their cooperative abilities when they were aged around 3 years. Further, the study investigated whether the association between children's birth order and cooperative abilities was dependent on the prosocial behaviour of other siblings in the home. The sample included 288 ethnically and sociodemographically diverse children clustered within 144 families. Cooperation was directly assessed using a problem-solving paradigm requiring two simultaneous and complementary actions of the child and adult tester to achieve a joint goal. Parents reported on the prosocial behaviour of up to four siblings in the home. Results of a multilevel analysis indicated that youngest children were more advanced in their cooperative abilities, compared to firstborn children, irrespective of their siblings' prosociality. Middle children, in contrast, were only advantaged over firstborn children if their siblings showed high levels of prosociality. The analysis accounted for a number of potential family-wide confounds, providing evidence that this is a child-specific effect related to birth order. Findings are discussed from a social constructivist perspective with an emphasis on the sibling relationship as a context for cooperative interactions that facilitate sociocognitive development. Statement of contribution What is already known on this subject? There are individual differences in children's early capacities for cooperation. Children's early cooperation has not been considered in relation to birth order and/or sibling interaction quality. What does this study add? Youngest children are advantaged in their cooperation as compared to firstborn children. Middle children are also advantaged, but only if their

  10. 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.

  11. 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.

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

    Science.gov (United States)

    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

    2015-10-30

    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 endophenotypic potential. Magnetic resonance diffusion images for 19 BP type I patients in remission, 21 of their first degree unaffected relatives, and 18 unrelated healthy controls underwent tractography. With the automated anatomical labelling atlas being used to define nodes, a connectivity matrix was generated for each subject. Network metrics were extracted with the Brain Connectivity Toolbox and then analysed for group differences, accounting for potential confounding effects of age, gender and familial association. Whole brain analysis revealed no differences between groups. Analysis of specific mainly frontal regions, previously implicated as potentially endophenotypic by functional magnetic resonance imaging analysis of the same cohort, revealed a significant effect of group in the right medial superior frontal gyrus and left middle frontal gyrus driven by reduced organisation in patients compared with controls. The organisation of whole brain networks of those affected with BP I does not differ from their unaffected relatives or healthy controls. In discreet frontal regions, however, anatomical connectivity is disrupted in patients but not in their unaffected relatives. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. How many bytes does it take? A content analysis of cyber issues in couple and family therapy journals.

    Science.gov (United States)

    Blumer, Markie L C; Hertlein, Katherine M; Smith, Justin M; Allen, Harrison

    2014-01-01

    In the fifteen years since the explosion of the Internet, using cyber technology for work and social functions has exponentially increased. Yet, questions around how to manage such changes remain elusive in family therapy literature. In this investigation, we conducted a content analysis to determine to what extent marriage/couple and family therapy (M/CFT) journals have responded to the integration of the Internet in couple and family life. We found 79 of 13,274 articles across seventeen journals focused on the Internet in some capacity. Implications for clinical practice, training, and future research are discussed. © 2013 American Association for Marriage and Family Therapy.

  14. Analysis of four families with the Stickler syndrome by linkage studies. Identification of a new premature stop codon in the COL2A1 gene in a family

    Energy Technology Data Exchange (ETDEWEB)

    Bonaventure, J.; Lasselin, C. [Hopital Necker, Paris (France); Toutain, A. [CHU Bretonneau, Tours (France)] [and others

    1994-09-01

    The Stickler syndrome is an arthro-ophthalmopathy which associates progressive myopia with vitreal degeneration and retinal detachment. Cleft palate, cranio-facial abnormalities, deafness and osteoarthritis are often associated symptoms. Genetic heterogeneity of this autosomal dominant disease was consistent with its large clinical variability. Linkage studies have provided evidence for cosegregation of the disease with COL2A1, the gene coding for type II collagen, in about 50% of the families. Four additional families are reported here. Linkage analyses by using a VNTR located in the 3{prime} region of the gene were achieved. In three families, positive lod scores were obtained with a cumulative maximal value of 3.5 at a recombination fraction of 0. In one of these families, single strand conformation analysis of 25 exons disclosed a new mutation in exon 42. Codon for glutamic acid at position a1-803 was converted into a stop codon. The mutation was detected in DNA samples from all the affected members of the family but not in the unaffected. This result confirms that most of the Stickler syndromes linked to COL2A1 are due to premature stop codons. In a second family, an abnormal SSCP pattern of exon 34 was detected in all the affected individuals. The mutation is likely to correspond to a splicing defect in the acceptor site of intron 33. In one family the disease did not segregate with the COL2A1 locus. Further linkage studies with intragenic dimorphic sites in the COL10A1 gene and highly polymorphic markers close to the COL9A1 locus indicated that this disorder did not result from defects in these two genes.

  15. Analysis of Work Performance of Family Planning Field Workers in Male Family Planning Program in Cilacap District

    OpenAIRE

    Suryani, Untari Fajar; Nurjazuli, Nurjazuli; Arso, Septo Pawelas

    2013-01-01

    Target of MDG's to reach maternal mortality rate of 102/100.000 live-births and infantmortality rate of 23/1000 live-births had been performed by improving maternal health throughincreasing contraceptive prevalence rate and decreasing unmet need. Percentage of male withpermanent birth control in Cilacap district was in the lowest rank, 0.16%. Success of familyplanning program could not be separated from work performance of PLKB (family planning field workers); assessment of PLKB work performa...

  16. Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.

    Science.gov (United States)

    Peters, Anna L; Veldthuis, Martijn; van Leeuwen, Karin; Bossuyt, Patrick M M; Vlaar, Alexander P J; van Bruggen, Robin; de Korte, Dirk; Van Noorden, Cornelis J F; van Zwieten, Rob

    2017-11-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide. Detection of heterozygously deficient females can be difficult as residual activity in G6PD-sufficient red blood cells (RBCs) can mask deficiency. In this study, we compared accuracy of 4 methods for detection of G6PD deficiency in females. Blood samples from females more than 3 months of age were used for spectrophotometric measurement of G6PD activity and for determination of the percentage G6PD-negative RBCs by cytofluorometry. An additional sample from females suspected to have G6PD deficiency based on the spectrophotometric G6PD activity was used for measuring chromate inhibition and sequencing of the G6PD gene. Of 165 included females, 114 were suspected to have heterozygous deficiency. From 75 females, an extra sample was obtained. In this group, mutation analysis detected 27 heterozygously deficient females. The sensitivity of spectrophotometry, cytofluorometry, and chromate inhibition was calculated to be 0.52 (confidence interval [CI]: 0.32-0.71), 0.85 (CI: 0.66-0.96), and 0.96 (CI: 0.71-1.00, respectively, and the specificity was 1.00 (CI: 0.93-1.00), 0.88 (CI: 0.75-0.95), and 0.98 (CI: 0.89-1.00), respectively. Heterozygously G6PD-deficient females with a larger percentage of G6PD-sufficient RBCs are missed by routine methods measuring total G6PD activity. However, the majority of these females can be detected with both chromate inhibition and cytofluorometry.

  17. Genome-wide identification and expression analysis of the WRKY gene family in cassava

    Directory of Open Access Journals (Sweden)

    Yunxie eWei

    2016-02-01

    Full Text Available The WRKY family, a large family of transcription factors (TFs found in higher plants, plays central roles in many aspects of physiological processes and adaption to environment. However, little information is available regarding the WRKY family in cassava (Manihot esculenta. In the present study, 85 WRKY genes were identified from the cassava genome and classified into three groups according to conserved WRKY domains and zinc-finger structure. Conserved motif analysis showed that all of the identified MeWRKYs had the conserved WRKY domain. Gene structure analysis suggested that the number of introns in MeWRKY genes varied from 1 to 5, with the majority of MeWRKY genes containing 3 exons. Expression profiles of MeWRKY genes in different tissues and in response to drought stress were analyzed using the RNA-seq technique. The results showed that 72 MeWRKY genes had differential expression in their transcript abundance and 78 MeWRKY genes were differentially expressed in response to drought stresses in different accessions, indicating their contribution to plant developmental processes and drought stress resistance in cassava. Finally, the expression of 9 WRKY genes was analyzed by qRT-PCR under osmotic, salt, ABA, H2O2, and cold treatments, indicating that MeWRKYs may be involved in different signaling pathways. Taken together, this systematic analysis identifies some tissue-specific and abiotic stress-responsive candidate MeWRKY genes for further functional assays in planta, and provides a solid foundation for understanding of abiotic stress responses and signal transduction mediated by WRKYs in cassava.

  18. Genome-Wide Identification and Expression Analysis of the WRKY Gene Family in Cassava.

    Science.gov (United States)

    Wei, Yunxie; Shi, Haitao; Xia, Zhiqiang; Tie, Weiwei; Ding, Zehong; Yan, Yan; Wang, Wenquan; Hu, Wei; Li, Kaimian

    2016-01-01

    The WRKY family, a large family of transcription factors (TFs) found in higher plants, plays central roles in many aspects of physiological processes and adaption to environment. However, little information is available regarding the WRKY family in cassava (Manihot esculenta). In the present study, 85 WRKY genes were identified from the cassava genome and classified into three groups according to conserved WRKY domains and zinc-finger structure. Conserved motif analysis showed that all of the identified MeWRKYs had the conserved WRKY domain. Gene structure analysis suggested that the number of introns in MeWRKY genes varied from 1 to 5, with the majority of MeWRKY genes containing three exons. Expression profiles of MeWRKY genes in different tissues and in response to drought stress were analyzed using the RNA-seq technique. The results showed that 72 MeWRKY genes had differential expression in their transcript abundance and 78 MeWRKY genes were differentially expressed in response to drought stresses in different accessions, indicating their contribution to plant developmental processes and drought stress resistance in cassava. Finally, the expression of 9 WRKY genes was analyzed by qRT-PCR under osmotic, salt, ABA, H2O2, and cold treatments, indicating that MeWRKYs may be involved in different signaling pathways. Taken together, this systematic analysis identifies some tissue-specific and abiotic stress-responsive candidate MeWRKY genes for further functional assays in planta, and provides a solid foundation for understanding of abiotic stress responses and signal transduction mediated by WRKYs in cassava.

  19. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

    Science.gov (United States)

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

    2012-06-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  20. Content analysis and qualitative study of hemodialysis patients, family experience and perceived social support.

    Science.gov (United States)

    Aghakhani, Nader; Sharif, Farkhondeh; Molazem, Zahra; Habibzadeh, Hosein

    2014-03-01

    Various treatments such as hemodialysis prolong the life of chronic renal failure disease patients who must tolerate many physical, emotional, social and economic difficulties. Therefore, social support is considered as a vital area of investigation for such patients. In this qualitative research, a grounded theory approach was used and written as a content analysis form to study hemodialysis patients and family experience of perceived social support. Three nurses, 4 general practitioners, a specialist and two family members who participated were interviewed from April to September 2012 in Urmia, Iran. Interviews were guided to divulge the perception of changes in their lives, needs for social support for disease complications, and the type of treatment process. Purposive sampling continued up to data saturation. Data analysis was performed based on Strauss and Corbin Method. Constant comparison analysis was performed until data saturation. The research results are shown in 3 steps. In the first step, 113 categories and four main themes from 993 first codes were explored. Social support was explored based on the implications of five general themes including "Perceived Threats Caused by Disease Complications", "Searching for Social Support", "Accessible Social Support", "Beliefs and Values", and "Perceived Social Support". The core variable of our research is acceptance of the reality of the conditions caused by the disease. The research finalized our knowledge about patient problems regarding social support and revealed many problems of supporting patients by Health Team Members, family members and organizations. The findings suggest that individual aspects of patient experiences must be considered if social support is to be given and Healthcare Providers have to facilitate positive health services.

  1. Genome-wide identification and expression analysis of the CIPK gene family in cassava

    Directory of Open Access Journals (Sweden)

    Wei eHu

    2015-10-01

    Full Text Available Cassava is an important food and potential biofuel crop that is tolerant to multiple abiotic stressors. The mechanisms underlying these tolerances are currently less known. CBL-interacting protein kinases (CIPKs have been shown to play crucial roles in plant developmental processes, hormone signaling transduction, and in the response to abiotic stress. However, no data is currently available about the CPK family in cassava. In this study, a total of 25 CIPK genes were identified from cassava genome based on our previous genome sequencing data. Phylogenetic analysis suggested that 25 MeCIPKs could be classified into four subfamilies, which was supported by exon-intron organizations and the architectures of conserved protein motifs. Transcriptomic analysis of a wild subspecies and two cultivated varieties showed that most MeCIPKs had different expression patterns between wild subspecies and cultivatars in different tissues or in response to drought stress. Some orthologous genes involved in CIPK interaction networks were identified between Arabidopsis and cassava. The interaction networks and co-expression patterns of these orthologous genes revealed that the crucial pathways controlled by CIPK networks may be involved in the differential response to drought stress in different accessions of cassava. Nine MeCIPK genes were selected to investigate their transcriptional response to various stimuli and the results showed the comprehensive response of the tested MeCIPK genes to osmotic, salt, cold, oxidative stressors, and ABA signaling. The identification and expression analysis of CIPK family suggested that CIPK genes are important components of development and multiple signal transduction pathways in cassava. The findings of this study will help lay a foundation for the functional characterization of the CIPK gene family and provide an improved understanding of abiotic stress responses and signaling transduction in cassava.

  2. Genome-Wide Identification and Expression Analysis of WRKY Gene Family in Capsicum annuum L.

    Science.gov (United States)

    Diao, Wei-Ping; Snyder, John C; Wang, Shu-Bin; Liu, Jin-Bing; Pan, Bao-Gui; Guo, Guang-Jun; Wei, Ge

    2016-01-01

    The WRKY family of transcription factors is one of the most important families of plant transcriptional regulators with members regulating multiple biological processes, especially in regulating defense against biotic and abiotic stresses. However, little information is available about WRKYs in pepper (Capsicum annuum L.). The recent release of completely assembled genome sequences of pepper allowed us to perform a genome-wide investigation for pepper WRKY proteins. In the present study, a total of 71 WRKY genes were identified in the pepper genome. According to structural features of their encoded proteins, the pepper WRKY genes (CaWRKY) were classified into three main groups, with the second group further divided into five subgroups. Genome mapping analysis revealed that CaWRKY were enriched on four chromosomes, especially on chromosome 1, and 15.5% of the family members were tandemly duplicated genes. A phylogenetic tree was constructed depending on WRKY domain' sequences derived from pepper and Arabidopsis. The expression of 21 selected CaWRKY genes in response to seven different biotic and abiotic stresses (salt, heat shock, drought, Phytophtora capsici, SA, MeJA, and ABA) was evaluated by quantitative RT-PCR; Some CaWRKYs were highly expressed and up-regulated by stress treatment. Our results will provide a platform for functional identification and molecular breeding studies of WRKY genes in pepper.

  3. 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.

  4. 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.

  5. 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.

  6. Male ICU nurses' experiences of taking care of dying patients and their families: a gender analysis.

    Science.gov (United States)

    Wu, Tammy W; Oliffe, John L; Bungay, Vicky; Johnson, Joy L

    2015-01-01

    Male intensive care unit (ICU) nurses bring energy and expertise along with an array of beliefs and practices to their workplace. This article investigates the experiences of male ICU nurses in the context of caring for dying patients and their families. Applying a gender analysis, distilled are insights to how masculinities inform and influence the participants' practices and coping strategies. The findings reveal participants draw on masculine ideals of being a protector and rational in their decisive actions toward meeting the comfort needs of dying patients and their families. Somewhat paradoxically, most participants also transgressed masculine norms by outwardly expressing their feelings and talking about emotions related to these experiences. Participants also reported renewed appreciation of their life and their families and many men chronicled recreational activities and social connectedness as strategies for coping with workplace induced stresses. The findings drawn from this study can guide both formal and informal support services for men who are ICU nurses, which in turn might aid retention of this subgroup of workers. © The Author(s) 2014.

  7. 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

  8. Family-based childhood obesity prevention interventions: a systematic review and quantitative content analysis.

    Science.gov (United States)

    Ash, Tayla; Agaronov, Alen; Young, Ta'Loria; Aftosmes-Tobio, Alyssa; Davison, Kirsten K

    2017-08-24

    A wide range of interventions has been implemented and tested to prevent obesity in children. Given parents' influence and control over children's energy-balance behaviors, including diet, physical activity, media use, and sleep, family interventions are a key strategy in this effort. The objective of this study was to profile the field of recent family-based childhood obesity prevention interventions by employing systematic review and quantitative content analysis methods to identify gaps in the knowledge base. Using a comprehensive search strategy, we searched the PubMed, PsycIFO, and CINAHL databases to identify eligible interventions aimed at preventing childhood obesity with an active family component published between 2008 and 2015. Characteristics of study design, behavioral domains targeted, and sample demographics were extracted from eligible articles using a comprehensive codebook. More than 90% of the 119 eligible interventions were based in the United States, Europe, or Australia. Most interventions targeted children 2-5 years of age (43%) or 6-10 years of age (35%), with few studies targeting the prenatal period (8%) or children 14-17 years of age (7%). The home (28%), primary health care (27%), and community (33%) were the most common intervention settings. Diet (90%) and physical activity (82%) were more frequently targeted in interventions than media use (55%) and sleep (20%). Only 16% of interventions targeted all four behavioral domains. In addition to studies in developing countries, racial minorities and non-traditional families were also underrepresented. Hispanic/Latino and families of low socioeconomic status were highly represented. The limited number of interventions targeting diverse populations and obesity risk behaviors beyond diet and physical activity inhibit the development of comprehensive, tailored interventions. To ensure a broad evidence base, more interventions implemented in developing countries and targeting racial

  9. 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. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

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    Fernández-Rodríguez Juana

    2012-03-01

    Full Text Available Abstract Background Genes that, when mutated, cause Fanconi anemia or greatly increase breast cancer risk encode for proteins that converge on a homology-directed DNA damage repair process. Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been identified in unclassified Fanconi anemia patients. A mutation analysis of SLX4 in German or Byelorussian familial cases of breast cancer without detected mutations in BRCA1 or BRCA2 has been completed, with globally negative results. Methods The genomic region of SLX4, comprising all exons and exon-intron boundaries, was sequenced in 94 Spanish familial breast cancer cases that match a criterion indicating the potential presence of a highly-penetrant germline mutation, following exclusion of BRCA1 or BRCA2 mutations. Results This mutational analysis revealed extensive genetic variation of SLX4, with 21 novel single nucleotide variants; however, none could be linked to a clear alteration of the protein function. Nonetheless, genotyping 10 variants (nine novel, all missense amino acid changes in a set of controls (138 women and 146 men did not detect seven of them. Conclusions Overall, while the results of this study do not identify clearly pathogenic mutations of SLX4 contributing to breast cancer risk, further genetic analysis, combined with functional assays of the identified rare variants, may be warranted to conclusively assess the potential link with the disease.

  11. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families

    International Nuclear Information System (INIS)

    Fernández-Rodríguez, Juana; Schindler, Detlev; Capellá, Gabriel; Brunet, Joan; Lázaro, Conxi; Pujana, Miguel Angel; Quiles, Francisco; Blanco, Ignacio; Teulé, Alex; Feliubadaló, Lídia; Valle, Jesús del; Salinas, Mónica; Izquierdo, Àngel; Darder, Esther

    2012-01-01

    Genes that, when mutated, cause Fanconi anemia or greatly increase breast cancer risk encode for proteins that converge on a homology-directed DNA damage repair process. Mutations in the SLX4 gene, which encodes for a scaffold protein involved in the repair of interstrand cross-links, have recently been identified in unclassified Fanconi anemia patients. A mutation analysis of SLX4 in German or Byelorussian familial cases of breast cancer without detected mutations in BRCA1 or BRCA2 has been completed, with globally negative results. The genomic region of SLX4, comprising all exons and exon-intron boundaries, was sequenced in 94 Spanish familial breast cancer cases that match a criterion indicating the potential presence of a highly-penetrant germline mutation, following exclusion of BRCA1 or BRCA2 mutations. This mutational analysis revealed extensive genetic variation of SLX4, with 21 novel single nucleotide variants; however, none could be linked to a clear alteration of the protein function. Nonetheless, genotyping 10 variants (nine novel, all missense amino acid changes) in a set of controls (138 women and 146 men) did not detect seven of them. Overall, while the results of this study do not identify clearly pathogenic mutations of SLX4 contributing to breast cancer risk, further genetic analysis, combined with functional assays of the identified rare variants, may be warranted to conclusively assess the potential link with the disease

  12. 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.

  13. 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

  14. Comparative genomic analysis of the WRKY III gene family in populus, grape, arabidopsis and rice.

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    Wang, Yiyi; Feng, Lin; Zhu, Yuxin; Li, Yuan; Yan, Hanwei; Xiang, Yan

    2015-09-08

    WRKY III genes have significant functions in regulating plant development and resistance. In plant, WRKY gene family has been studied in many species, however, there still lack a comprehensive analysis of WRKY III genes in the woody plant species poplar, three representative lineages of flowering plant species are incorporated in most analyses: Arabidopsis (a model plant for annual herbaceous dicots), grape (one model plant for perennial dicots) and Oryza sativa (a model plant for monocots). In this study, we identified 10, 6, 13 and 28 WRKY III genes in the genomes of Populus trichocarpa, grape (Vitis vinifera), Arabidopsis thaliana and rice (Oryza sativa), respectively. Phylogenetic analysis revealed that the WRKY III proteins could be divided into four clades. By microsynteny analysis, we found that the duplicated regions were more conserved between poplar and grape than Arabidopsis or rice. We dated their duplications by Ks analysis of Populus WRKY III genes and demonstrated that all the blocks were formed after the divergence of monocots and dicots. Strong purifying selection has played a key role in the maintenance of WRKY III genes in Populus. Tissue expression analysis of the WRKY III genes in Populus revealed that five were most highly expressed in the xylem. We also performed quantitative real-time reverse transcription PCR analysis of WRKY III genes in Populus treated with salicylic acid, abscisic acid and polyethylene glycol to explore their stress-related expression patterns. This study highlighted the duplication and diversification of the WRKY III gene family in Populus and provided a comprehensive analysis of this gene family in the Populus genome. Our results indicated that the majority of WRKY III genes of Populus was expanded by large-scale gene duplication. The expression pattern of PtrWRKYIII gene identified that these genes play important roles in the xylem during poplar growth and development, and may play crucial role in defense to drought

  15. Analysis of IDR(s Family of Solvers for Reservoir Simulations on Different Parallel Architectures

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    Seignole Vincent

    2016-09-01

    Full Text Available The present contribution consists in providing a detailed analysis of several realizations of the IDR(s family of solvers, under different facets: robustness, performance and implementation on different parallel environments in regards of sequential IDR(s resolution implementation tested through several industrial geologically and structurally coherent 3D-field case reservoir models. This work is the result of continuous efforts towards time-response improvement of Storengy’s reservoir three-dimensional simulator named Multi, dedicated to gas-storage applications.

  16. Integration opportunities for HIV and family planning services in Addis Ababa, Ethiopia: an organizational network analysis.

    Science.gov (United States)

    Thomas, James C; Reynolds, Heidi; Bevc, Christine; Tsegaye, Ademe

    2014-01-18

    Public health resources are often deployed in developing countries by foreign governments, national governments, civil society and the private health clinics, but seldom in ways that are coordinated within a particular community or population. The lack of coordination results in inefficiencies and suboptimal results. Organizational network analysis can reveal how organizations interact with each other and provide insights into means of realizing better public health results from the resources already deployed. Our objective in this study was to identify the missed opportunities for the integration of HIV care and family planning services and to inform future network strengthening. In two sub-cities of Addis Ababa, we identified each organization providing either HIV care or family planning services. We interviewed representatives of each of them about exchanges of clients with each of the others. With network analysis, we identified network characteristics in each sub-city network, such as referral density and centrality; and gaps in the referral patterns. The results were shared with representatives from the organizations. The two networks were of similar size (25 and 26 organizations) and had referral densities of 0.115 and 0.155 out of a possible range from 0 (none) to 1.0 (all possible connections). Two organizations in one sub-city did not refer HIV clients to a family planning organization. One organization in one sub-city and seven in the other offered few HIV services and did not refer clients to any other HIV service provider. Representatives from the networks confirmed the results reflected their experience and expressed an interest in establishing more links between organizations. Because of organizations not working together, women in the two sub-cities were at risk of not receiving needed family planning or HIV care services. Facilitating referrals among a few organizations that are most often working in isolation could remediate the problem, but the

  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. © 2016 American Association for Marriage and Family Therapy.

  18. Genome-wide identification and expression analysis of MAPK and MAPKK gene family in Malus domestica.

    Science.gov (United States)

    Zhang, Shizhong; Xu, Ruirui; Luo, Xiaocui; Jiang, Zesheng; Shu, Huairui

    2013-12-01

    MAPK signal transduction modules play crucial roles in regulating many biological processes in plants, which are composed of three classes of hierarchically organized protein kinases, namely MAPKKKs, MAPKKs, and MAPKs. Although genome-wide analysis of this family has been carried out in some species, little is known about MAPK and MAPKK genes in apple (Malus domestica). In this study, a total of 26 putative apple MAPK genes (MdMPKs) and 9 putative apple MAPKK genes (MdMKKs) have been identified and located within the apple genome. Phylogenetic analysis revealed that MdMAPKs and MdMAPKKs could be divided into 4 subfamilies (groups A, B, C and D), respectively. The predicted MdMAPKs and MdMAPKKs were distributed across 13 out of 17 chromosomes with different densities. In addition, analysis of exon-intron junctions and of intron phase inside the predicted coding region of each candidate gene has revealed high levels of conservation within and between phylogenetic groups. According to the microarray and expressed sequence tag (EST) analysis, the different expression patterns indicate that they may play different roles during fruit development and rootstock-scion interaction process. Moreover, MAPK and MAPKK genes were performed expression profile analyses in different tissues (root, stem, leaf, flower and fruit), and all of the selected genes were expressed in at least one of the tissues tested, indicating that the MAPKs and MAPKKs are involved in various aspects of physiological and developmental processes of apple. To our knowledge, this is the first report of a genome-wide analysis of the apple MAPK and MAPKK gene family. This study provides valuable information for understanding the classification and putative functions of the MAPK signal in apple. © 2013.

  19. Genome-wide analysis of the WRKY gene family in cotton.

    Science.gov (United States)

    Dou, Lingling; Zhang, Xiaohong; Pang, Chaoyou; Song, Meizhen; Wei, Hengling; Fan, Shuli; Yu, Shuxun

    2014-12-01

    WRKY proteins are major transcription factors involved in regulating plant growth and development. Although many studies have focused on the functional identification of WRKY genes, our knowledge concerning many areas of WRKY gene biology is limited. For example, in cotton, the phylogenetic characteristics, global expression patterns, molecular mechanisms regulating expression, and target genes/pathways of WRKY genes are poorly characterized. Therefore, in this study, we present a genome-wide analysis of the WRKY gene family in cotton (Gossypium raimondii and Gossypium hirsutum). We identified 116 WRKY genes in G. raimondii from the completed genome sequence, and we cloned 102 WRKY genes in G. hirsutum. Chromosomal location analysis indicated that WRKY genes in G. raimondii evolved mainly from segmental duplication followed by tandem amplifications. Phylogenetic analysis of alga, bryophyte, lycophyta, monocot and eudicot WRKY domains revealed family member expansion with increasing complexity of the plant body. Microarray, expression profiling and qRT-PCR data revealed that WRKY genes in G. hirsutum may regulate the development of fibers, anthers, tissues (roots, stems, leaves and embryos), and are involved in the response to stresses. Expression analysis showed that most group II and III GhWRKY genes are highly expressed under diverse stresses. Group I members, representing the ancestral form, seem to be insensitive to abiotic stress, with low expression divergence. Our results indicate that cotton WRKY genes might have evolved by adaptive duplication, leading to sensitivity to diverse stresses. This study provides fundamental information to inform further analysis and understanding of WRKY gene functions in cotton species.

  20. Identification and in silico analysis of the Citrus HSP70 molecular chaperone gene family

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    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.

  1. Family/children cash benefits in Serbia: The analysis and policy recommendations

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    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.

  2. Comparative analysis of lysyl oxidase (like) family members in pulmonary fibrosis.

    Science.gov (United States)

    Aumiller, Verena; Strobel, Benjamin; Romeike, Merrit; Schuler, Michael; Stierstorfer, Birgit E; Kreuz, Sebastian

    2017-03-10

    Extracellular matrix (ECM) composition and stiffness are major driving forces for the development and persistence of fibrotic diseases. Lysyl oxidase (LOX) and LOX-like (LOXL) proteins play crucial roles in ECM remodeling due to their collagen crosslinking and intracellular functions. Here, we systematically investigated LOX/L expression in primary fibroblasts and epithelial cells under fibrotic conditions, Bleomycin (BLM) induced lung fibrosis and in human IPF tissue. Basal expression of all LOX/L family members was detected in epithelial cells and at higher levels in fibroblasts. Various pro-fibrotic stimuli broadly induced LOX/L expression in fibroblasts, whereas specific induction of LOXL2 and partially LOX was observed in epithelial cells. Immunohistochemical analysis of lung tissue from 14 IPF patients and healthy donors revealed strong induction of LOX and LOXL2 in bronchial and alveolar epithelium as well as fibroblastic foci. Using siRNA experiments we observed that LOXL2 and LOXL3 were crucial for fibroblast-to-myofibroblast transition (FMT). As FMT could only be reconstituted with an enzymatically active LOXL2 variant, we conclude that LOXL2 enzymatic function is crucial for fibroblast transdifferentiation. In summary, our study provides a comprehensive analysis of the LOX/L family in fibrotic lung disease and indicates prominent roles for LOXL2/3 in fibroblast activation and LOX/LOXL2 in IPF.

  3. The mediation police in family and couple conflict: analysis of the agreements

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    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.

  4. Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

    Science.gov (United States)

    Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

    1992-11-01

    We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.

  5. 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

    2018-03-01

    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 differences 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 differences, 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.

  6. Analysis of family-wise error rates in statistical parametric mapping using random field theory.

    Science.gov (United States)

    Flandin, Guillaume; Friston, Karl J

    2017-11-01

    This technical report revisits the analysis of family-wise error rates in statistical parametric mapping-using random field theory-reported in (Eklund et al. []: arXiv 1511.01863). Contrary to the understandable spin that these sorts of analyses attract, a review of their results suggests that they endorse the use of parametric assumptions-and random field theory-in the analysis of functional neuroimaging data. We briefly rehearse the advantages parametric analyses offer over nonparametric alternatives and then unpack the implications of (Eklund et al. []: arXiv 1511.01863) for parametric procedures. Hum Brain Mapp, 2017. © 2017 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc. © 2017 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.

  7. Genome-wide analysis of the GRAS gene family in Prunus mume.

    Science.gov (United States)

    Lu, Jiuxing; Wang, Tao; Xu, Zongda; Sun, Lidan; Zhang, Qixiang

    2015-02-01

    Prunus mume is an ornamental flower and fruit tree in Rosaceae. We investigated the GRAS gene family to improve the breeding and cultivation of P. mume and other Rosaceae fruit trees. The GRAS gene family encodes transcriptional regulators that have diverse functions in plant growth and development, such as gibberellin and phytochrome A signal transduction, root radial patterning, and axillary meristem formation and gametogenesis in the P. mume genome. Despite the important roles of these genes in plant growth regulation, no findings on the GRAS genes of P. mume have been reported. In this study, we discerned phylogenetic relationships of P. mume GRAS genes, and their locations, structures in the genome and expression levels of different tissues. Out of 46 identified GRAS genes, 45 were located on the 8 P. mume chromosomes. Phylogenetic results showed that these genes could be classified into 11 groups. We found that Group X was P. mume-specific, and three genes of Group IX clustered with the rice-specific gene Os4. We speculated that these genes existed before the divergence of dicotyledons and monocotyledons and were lost in Arabidopsis. Tissue expression analysis indicated that 13 genes showed high expression levels in roots, stems, leaves, flowers and fruits, and were related to plant growth and development. Functional analysis of 24 GRAS genes and an orthologous relationship analysis indicated that many functioned during plant growth and flower and fruit development. Our bioinformatics analysis provides valuable information to improve the economic, agronomic and ecological benefits of P. mume and other Rosaceae fruit trees.

  8. Analysis of the Problems and Educational Needs of New Family Structures

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    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. Genome-Wide Analysis, Classification, Evolution, and Expression Analysis of the Cytochrome P450 93 Family in Land Plants.

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    Hai Du

    Full Text Available Cytochrome P450 93 family (CYP93 belonging to the cytochrome P450 superfamily plays important roles in diverse plant processes. However, no previous studies have investigated the evolution and expression of the members of this family. In this study, we performed comprehensive genome-wide analysis to identify CYP93 genes in 60 green plants. In all, 214 CYP93 proteins were identified; they were specifically found in flowering plants and could be classified into ten subfamilies-CYP93A-K, with the last two being identified first. CYP93A is the ancestor that was derived in flowering plants, and the remaining showed lineage-specific distribution-CYP93B and CYP93C are present in dicots; CYP93F is distributed only in Poaceae; CYP93G and CYP93J are monocot-specific; CYP93E is unique to legumes; CYP93H and CYP93K are only found in Aquilegia coerulea, and CYP93D is Brassicaceae-specific. Each subfamily generally has conserved gene numbers, structures, and characteristics, indicating functional conservation during evolution. Synonymous nucleotide substitution (dN/dS analysis showed that CYP93 genes are under strong negative selection. Comparative expression analyses of CYP93 genes in dicots and monocots revealed that they are preferentially expressed in the roots and tend to be induced by biotic and/or abiotic stresses, in accordance with their well-known functions in plant secondary biosynthesis.

  10. Widespread and evolutionary analysis of a MITE family Monkey King in Brassicaceae.

    Science.gov (United States)

    Dai, Shutao; Hou, Jinna; Long, Yan; Wang, Jing; Li, Cong; Xiao, Qinqin; Jiang, Xiaoxue; Zou, Xiaoxiao; Zou, Jun; Meng, Jinling

    2015-06-19

    Miniature inverted repeat transposable elements (MITEs) are important components of eukaryotic genomes, with hundreds of families and many copies, which may play important roles in gene regulation and genome evolution. However, few studies have investigated the molecular mechanisms involved. In our previous study, a Tourist-like MITE, Monkey King, was identified from the promoter region of a flowering time gene, BnFLC.A10, in Brassica napus. Based on this MITE, the characteristics and potential roles on gene regulation of the MITE family were analyzed in Brassicaceae. The characteristics of the Tourist-like MITE family Monkey King in Brassicaceae, including its distribution, copies and insertion sites in the genomes of major Brassicaceae species were analyzed in this study. Monkey King was actively amplified in Brassica after divergence from Arabidopsis, which was indicated by the prompt increase in copy number and by phylogenetic analysis. The genomic variations caused by Monkey King insertions, both intra- and inter-species in Brassica, were traced by PCR amplification. Genomic sequence analysis showed that most complete Monkey King elements are located in gene-rich regions, less than 3kb from genes, in both the B. rapa and A. thaliana genomes. Sixty-seven Brassica expressed sequence tags carrying Monkey King fragments were also identified from the NCBI database. Bisulfite sequencing identified specific DNA methylation of cytosine residues in the Monkey King sequence. A fragment containing putative TATA-box motifs in the MITE sequence could bind with nuclear protein(s) extracted from leaves of B. napus plants. A Monkey King-related microRNA, bna-miR6031, was identified in the microRNA database. In transgenic A. thaliana, when the Monkey King element was inserted upstream of 35S promoter, the promoter activity was weakened. Monkey King, a Brassicaceae Tourist-like MITE family, has amplified relatively recently and has induced intra- and inter-species genomic

  11. Amino acid sequence analysis of the annexin super-gene family of proteins.

    Science.gov (United States)

    Barton, G J; Newman, R H; Freemont, P S; Crumpton, M J

    1991-06-15

    The annexins are a widespread family of calcium-dependent membrane-binding proteins. No common function has been identified for the family and, until recently, no crystallographic data existed for an annexin. In this paper we draw together 22 available annexin sequences consisting of 88 similar repeat units, and apply the techniques of multiple sequence alignment, pattern matching, secondary structure prediction and conservation analysis to the characterisation of the molecules. The analysis clearly shows that the repeats cluster into four distinct families and that greatest variation occurs within the repeat 3 units. Multiple alignment of the 88 repeats shows amino acids with conserved physicochemical properties at 22 positions, with only Gly at position 23 being absolutely conserved in all repeats. Secondary structure prediction techniques identify five conserved helices in each repeat unit and patterns of conserved hydrophobic amino acids are consistent with one face of a helix packing against the protein core in predicted helices a, c, d, e. Helix b is generally hydrophobic in all repeats, but contains a striking pattern of repeat-specific residue conservation at position 31, with Arg in repeats 4 and Glu in repeats 2, but unconserved amino acids in repeats 1 and 3. This suggests repeats 2 and 4 may interact via a buried saltbridge. The loop between predicted helices a and b of repeat 3 shows features distinct from the equivalent loop in repeats 1, 2 and 4, suggesting an important structural and/or functional role for this region. No compelling evidence emerges from this study for uteroglobin and the annexins sharing similar tertiary structures, or for uteroglobin representing a derivative of a primordial one-repeat structure that underwent duplication to give the present day annexins. The analyses performed in this paper are re-evaluated in the Appendix, in the light of the recently published X-ray structure for human annexin V. The structure confirms most of

  12. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia.

    Science.gov (United States)

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-09-01

    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. 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. 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 ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. 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. 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.

  13. Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis

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    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.

  14. Examining the association between attention deficit hyperactivity disorder and substance use disorders: A familial risk analysis.

    Science.gov (United States)

    Yule, Amy M; Martelon, MaryKate; Faraone, Stephen V; Carrellas, Nicholas; Wilens, Timothy E; Biederman, Joseph

    2017-02-01

    The main aim of this study was to use familial risk analysis to examine the association between attention deficit hyperactivity disorder (ADHD) and substance use disorders (SUDs) attending to sex effects and the specificity of alcohol and drug use disorder risks. Subjects were derived from two longitudinal case-control family studies of probands aged 6-17 years with and without DSM-III-R ADHD of both sexes and their first degree relatives followed from childhood onto young adult years. Cox proportional hazard models were used to estimate rates of ADHD and SUDs (any SUD, alcohol dependence, and drug dependence). Logistic regression was used to test both co-segregation and assortative mating. Our sample included 404 probands (ADHD: 112 boys and 96 girls; Control: 105 boys and 91 girls) and their 1336 relatives. SUDs in probands increased the risk for SUDs in relatives irrespective of ADHD status. The risk for dependence to drug or alcohol in relatives was non-specific. There was evidence that even in the absence of a SUD in the proband, ADHD by itself increased the risk of SUDs in relatives. Proband sex did not moderate the familial relationship between ADHD and SUDs. There was evidence of co-segregation between ADHD and SUD. Findings indicate that various independent pathways are involved in the transmission of SUD in ADHD and that these risks were not moderated by proband sex. ADHD children and siblings should benefit from preventive and early intervention strategies to decrease their elevated risk for developing a SUD. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Family income trajectory during childhood is associated with adiposity in adolescence: a latent class growth analysis.

    Science.gov (United States)

    Kendzor, Darla E; Caughy, Margaret O; Owen, Margaret Tresch

    2012-08-05

    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. 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. 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. Findings suggest that promoting upward socioeconomic mobility among disadvantaged families may have a positive impact on obesity-related outcomes in adolescence.

  16. Family income trajectory during childhood is associated with adiposity in adolescence: a latent class growth analysis

    Directory of Open Access Journals (Sweden)

    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.

  17. A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.

    Science.gov (United States)

    Silva, Claudia T; Zorkoltseva, Irina V; Amin, Najaf; Demirkan, Ayşe; van Leeuwen, Elisabeth M; Kors, Jan A; van den Berg, Marten; Stricker, Bruno H; Uitterlinden, André G; Kirichenko, Anatoly V; Witteman, Jacqueline C M; Willemsen, Rob; Oostra, Ben A; Axenovich, Tatiana I; van Duijn, Cornelia M; Isaacs, Aaron

    2016-01-01

    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 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 Ca 2+ 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.

  18. Comprehensive analysis of the soybean (Glycine max GmLAX auxin transporter gene family

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    Chenglin eChai

    2016-03-01

    Full Text Available The phytohormone auxin plays a critical role in regulation of plant growth and development as well as plant responses to abiotic stresses. This is mainly achieved through its uneven distribution in plants via a polar auxin transport process. Auxin transporters are major players in polar auxin transport. The AUXIN RESISTANT 1 ⁄ LIKE AUX1 (AUX⁄LAX auxin influx carriers belong to the amino acid permease family of proton-driven transporters and function in the uptake of indole-3-acetic acid (IAA. In this study, genome-wide comprehensive analysis of the soybean AUX⁄LAX (GmLAX gene family, including phylogenic relationships, chromosome localization, and gene structure, were carried out. A total of 15 GmLAX genes, including seven duplicated gene pairs, were identified in the soybean genome. They were distributed on 10 chromosomes. Despite their higher percentage identities at the protein level, GmLAXs exhibited versatile tissue-specific expression patterns, indicating coordinated functioning during plant growth and development. Most GmLAXs were responsive to drought and dehydration stresses and auxin and abscisic acid (ABA stimuli, in a tissue- and/or time point- sensitive mode. Several GmLAX members were involved in responding to salt stress. Sequence analysis revealed that promoters of GmLAXs contained different combinations of stress-related cis-regulatory elements. These studies suggest that the soybean GmLAXs were under control of a very complex regulatory network, responding to various internal and external signals. This study helps to identity candidate GmLAXs for further analysis of their roles in soybean development and adaption to adverse environments.

  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. 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.

  1. A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family.

    Science.gov (United States)

    Møller, Pål; Clark, Neal; Mæhle, Lovise

    2011-05-01

    A method for SImplified rapid Segregation Analysis (SISA) to assess penetrance and expression of genetic variants in pedigrees of any complexity is presented. For this purpose the probability for recombination between the variant and the gene is zero. An assumption is that the variant of undetermined significance (VUS) is introduced into the family once only. If so, all family members in between two members demonstrated to carry a VUS, are obligate carriers. Probabilities for cosegregation of disease and VUS by chance, penetrance, and expression, may be calculated. SISA return values do not include person identifiers and need no explicit informed consent. There will be no ethical complications in submitting SISA return values to central databases. Values for several families may be combined. Values for a family may be updated by the contributor. SISA is used to consider penetrance whenever sequencing demonstrates a VUS in the known cancer-predisposing genes. Any family structure at hand in a genetic clinic may be used. One may include an extended lineage in a family through demonstrating the same VUS in a distant relative, and thereby identifying all obligate carriers in between. Such extension is a way to escape the selection biases through expanding the families outside the clusters used to select the families. © 2011 Wiley-Liss, Inc.

  2. 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

  3. Molecular phylogenetic and expression analysis of the complete WRKY transcription factor family in maize.

    Science.gov (United States)

    Wei, Kai-Fa; Chen, Juan; Chen, Yan-Feng; Wu, Ling-Juan; Xie, Dao-Xin

    2012-04-01

    The WRKY transcription factors function in plant growth and development, and response to the biotic and abiotic stresses. Although many studies have focused on the functional identification of the WRKY transcription factors, much less is known about molecular phylogenetic and global expression analysis of the complete WRKY family in maize. In this study, we identified 136 WRKY proteins coded by 119 genes in the B73 inbred line from the complete genome and named them in an orderly manner. Then, a comprehensive phylogenetic analysis of five species was performed to explore the origin and evolutionary patterns of these WRKY genes, and the result showed that gene duplication is the major driving force for the origin of new groups and subgroups and functional divergence during evolution. Chromosomal location analysis of maize WRKY genes indicated that 20 gene clusters are distributed unevenly in the genome. Microarray-based expression analysis has revealed that 131 WRKY transcripts encoded by 116 genes may participate in the regulation of maize growth and development. Among them, 102 transcripts are stably expressed with a coefficient of variation (CV) value of WRKY genes with the CV value of >15% are further analysed to discover new organ- or tissue-specific genes. In addition, microarray analyses of transcriptional responses to drought stress and fungal infection showed that maize WRKY proteins are involved in stress responses. All these results contribute to a deep probing into the roles of WRKY transcription factors in maize growth and development and stress tolerance.

  4. Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene.

    Science.gov (United States)

    De Menis, Ernesto; Prezant, Toni R

    2002-01-01

    Isolated familial somatotropinomas (IFS) rarely occurs in the absence of multiple endocrine neoplasia type I (MEN1) or the Carney complex. In the present study we report two Italian siblings affected by GH-secreting adenomas. There was no history of parental consanguinity. The sister presented at 18 years of age with secondary amenorrhea and acromegalic features and one of her two brothers presented with gigantism at the same age. Endocrinological investigations confirmed GH hypersecretion in both cases. Although a pituitary microadenoma was detected in both patients, transsphenoidal surgery was not successful. The sister received conventional radiotherapy and acromegaly is now considered controlled; the brother is being treated with octreotide LAR 30 mg monthly and the disease is considered clinically active. Patients, their parents and the unaffected brother underwent extensive evaluation, and no features of MEN1 or Carney complex were found. Analysis of polymorphic microsatellite markers from chromosome 11q13 (D11S599, D11S4945, D11S4939, D11S4938 and D11S987) showed that the acromegalic siblings had inherited different maternal chromosomes and shared the paternal chromosome. No pathogenic MEN1 sequence changes were detected by sequencing or dideoxy fingerprinting of the coding sequence (exons 2-10) and exon/intron junctions. Although mutations in the promoter, introns or untranslated regions of the MEN1 gene cannot be excluded, germline mutations within the coding region of this gene do not appear responsible for IFS in this family.

  5. Genome-wide investigation and transcriptome analysis of the WRKY gene family in Gossypium.

    Science.gov (United States)

    Ding, Mingquan; Chen, Jiadong; Jiang, Yurong; Lin, Lifeng; Cao, YueFen; Wang, Minhua; Zhang, Yuting; Rong, Junkang; Ye, Wuwei

    2015-02-01

    WRKY transcription factors play important roles in various stress responses in diverse plant species. In cotton, this family has not been well studied, especially in relation to fiber development. Here, the genomes and transcriptomes of Gossypium raimondii and Gossypium arboreum were investigated to identify fiber development related WRKY genes. This represents the first comprehensive comparative study of WRKY transcription factors in both diploid A and D cotton species. In total, 112 G. raimondii and 109 G. arboreum WRKY genes were identified. No significant gene structure or domain alterations were detected between the two species, but many SNPs distributed unequally in exon and intron regions. Physical mapping revealed that the WRKY genes in G. arboreum were not located in the corresponding chromosomes of G. raimondii, suggesting great chromosome rearrangement in the diploid cotton genomes. The cotton WRKY genes, especially subgroups I and II, have expanded through multiple whole genome duplications and tandem duplications compared with other plant species. Sequence comparison showed many functionally divergent sites between WRKY subgroups, while the genes within each group are under strong purifying selection. Transcriptome analysis suggested that many WRKY genes participate in specific fiber development processes such as fiber initiation, elongation and maturation with different expression patterns between species. Complex WRKY gene expression such as differential Dt and At allelic gene expression in G. hirsutum and alternative splicing events were also observed in both diploid and tetraploid cottons during fiber development process. In conclusion, this study provides important information on the evolution and function of WRKY gene family in cotton species.

  6. 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.

  7. Phase-space analysis of the cosmological 3-fluid problem: families of attractors and repellers

    International Nuclear Information System (INIS)

    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 γ − 1, a pressureless dark matter fluid, plus a scalar field ϕ (representing dark energy) coupled to an exponential potential V = V 0 exp ( − κλϕ). Besides the potential–kinetic scaling solutions, which are not the unique late-time attractors whenever they exist for λ 2 ⩾ 3γ, 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 γ > 1. The case of a pressureless barotropic fluid (γ = 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. A solution with two transient periods of acceleration and two transient periods of deceleration is derived. (paper)

  8. Sequence analysis of the aminoacylase-1 family. A new proposed signature for metalloexopeptidases.

    Science.gov (United States)

    Biagini, A; Puigserver, A

    2001-03-01

    The amino acid sequence analysis of the human and porcine aminoacylases-1, the carboxypeptidase S precursor from Saccharomyces cerevisiae, the succinyl-diaminopimelate desuccinylase from Escherichia coli, Haemophilus influenzae and Corynebacterium glutamicum, the acetylornithine deacetylase from Escherichia coli and Dictyostelium discoideum and the carboxypeptidase G(2) precursor from Pseudomonas strain, using the Basic Local Alignment Search Tool (BLAST) and the Position-Specific Iterated BLAST (PSI-BLAST), allowed us to suggest that all these enzymes, which share common functional and biochemical features, belong to the same structural family. The three amino acid blocks which were found to be highly conserved, using the CLUSTAL W program, could be assigned to the catalytic active site, based on the general three-dimensional structure of the carboxypeptidase G(2) from the Pseudomonas strain precursor. Six additional proteins with the same signature have been retrieved after performing two successive PSI-BLAST iterations using the sequence of the conserved motif, namely Lactobacillus delbrueckii aminoacyl-histidine dipeptidase, Streptomyces griseus aminopeptidase, Saccharomyces cerevisiae aminopeptidase Y precursor, two Bacillus stearothermophilus N-carbamyl-L-amino acid amidohydrolases and Pseudomonas sp. hydantoin utilization protein C. The three conserved amino acid motifs corresponded to the following blocks: (i) [S, G, A]-H-x-D-x-V; (ii) G-x-x-D; and (iii) x-E-E. This new sequence signature is clearly different from that commonly reported in the literature for proteins belonging to the ArgE/DapE/CPG2/YscS family.

  9. Exponential Family Functional data analysis via a low-rank model.

    Science.gov (United States)

    Li, Gen; Huang, Jianhua Z; Shen, Haipeng

    2018-05-08

    In many applications, non-Gaussian data such as binary or count are observed over a continuous domain and there exists a smooth underlying structure for describing such data. We develop a new functional data method to deal with this kind of data when the data are regularly spaced on the continuous domain. Our method, referred to as Exponential Family Functional Principal Component Analysis (EFPCA), assumes the data are generated from an exponential family distribution, and the matrix of the canonical parameters has a low-rank structure. The proposed method flexibly accommodates not only the standard one-way functional data, but also two-way (or bivariate) functional data. In addition, we introduce a new cross validation method for estimating the latent rank of a generalized data matrix. We demonstrate the efficacy of the proposed methods using a comprehensive simulation study. The proposed method is also applied to a real application of the UK mortality study, where data are binomially distributed and two-way functional across age groups and calendar years. The results offer novel insights into the underlying mortality pattern. © 2018, The International Biometric Society.

  10. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

    Science.gov (United States)

    Kumar, Arun; Babu, Mohan; Kimberling, William J; Venkatesh, Conjeevaram P

    2004-11-24

    Usher syndrome (USH) is a rare autosomal recessive disorder characterized by deafness and retinitis pigmentosa. The purpose of this study was to determine the genetic cause of USH in a four generation Indian family. Peripheral blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to known USH loci, microsatellite markers were selected from the candidate regions of known loci and used to genotype the family. Exon specific intronic primers for the MYO7A gene were used to amplify DNA samples from one affected individual from the family. PCR products were subsequently sequenced to detect mutation. PCR-SSCP analysis was used to determine if the mutation segregated with the disease in the family and was not present in 50 control individuals. All affected individuals had a classic USH type I (USH1) phenotype which included deafness, vestibular dysfunction and retinitis pigmentosa. Pedigree analysis suggested an autosomal recessive mode of inheritance of USH in the family. Haplotype analysis suggested linkage of this family to the USH1B locus on chromosome 11q. DNA sequence analysis of the entire coding region of the MYO7A gene showed a novel insertion mutation c.2663_2664insA in a homozygous state in all affected individuals, resulting in truncation of MYO7A protein. This is the first study from India which reports a novel MYO7A insertion mutation in a four generation USH family. The mutation is predicted to produce a truncated MYO7A protein. With the novel mutation reported here, the total number of USH causing mutations in the MYO7A gene described to date reaches to 75.

  11. Family history of diabetes and the risk of gestational diabetes mellitus in Iran: A systematic review and meta-analysis.

    Science.gov (United States)

    Moosazadeh, Mahmood; Asemi, Zatollah; Lankarani, Kamran B; Tabrizi, Reza; Maharlouei, Najmeh; Naghibzadeh-Tahami, Ahmad; Yousefzadeh, Gholamreza; Sadeghi, Reza; Khatibi, Seyed Reza; Afshari, Mahdi; Khodadost, Mahmoud; Akbari, Maryam

    2017-11-01

    Gestational diabetes is the most prevalent metabolic disorder being firstly diagnosed during pregnancy. The relationship between the family history of diabetes and the gestational diabetes mellitus (GDM) has been investigated in several primary studies with a number of contradictions in the results. Hence, the purpose of the present study is to determine the relationship between the GDM and the family history of diabetes using the meta-analysis method. All published papers in main national and international databases were systematically searched with some specific keywords to find the related studies between 2000 and 2016. We calculated the odds ratio (OR) with 95% confidence interval (CI) in analysis for each study using a random-effect and Mantel-Haenzel method. We also determined heterogeneity among these 33 articles and their publication bias. We entered 33 relevant studies of 2516 articles into the meta-analysis process including 2697 women with family history of diabetes mellitus as well as 29134 women without. Of them, 954 and 4372 subjects developed GDM respectively. Combining the results of the primary studies using the meta-analysis method, the overall odds ratio of family history for developing GDM was estimated as of 3.46 (95% CI: 2.80-4.27). This meta-analysis study revealed that the family history of diabetes is an important risk factor for the gestational diabetes mellitus. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  12. 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

  13. Analysis of the Lifecycle Impacts and Potential for Avoided Impacts Associated with Single Family Homes

    Science.gov (United States)

    Learn how recovering construction and demolition materials from single-family homes and reusing them in building and road construction and other applications helps offset the environmental impacts associated with single-family homes.

  14. Hierarchical analysis of dietary, lifestyle and family environment risk factors for childhood obesity: the GRECO study.

    Science.gov (United States)

    Farajian, P; Panagiotakos, D B; Risvas, G; Malisova, O; Zampelas, A

    2014-10-01

    To facilitate the development of practical public health advice targeted at childhood obesity (OB) prevention and make the intervention programs more effective, one has to promote the most protective habits and limit or modify the risk factors. The objective of the present study was to recognize the most important dietary and physical activity habits, sedentary behaviors, plus parental influences that are associated with childhood overweight (OW) and OB, in a nationwide, cross-sectional sample of Greek school children. Data from 4552 children (10-12 years old) and 2225 of their parents were included in the analysis. Direct anthropometric measurements and information on dietary and physical activity habits was obtained from the children, as was information on parental self-reported anthropometric values, perceptions and family environment information. Multiple logistic regression analysis revealed that the most important predictors of childhood OW/OB were breakfast frequency (odds ratio (OR): 0.95; 95% confidence interval (CI): 0.92-0.97), daily number of meals and snacks (OR: 0.92; 95% CI: 0.87-0.97), the frequency of family meals (OR: 0.86; 95% CI: 0.76-0.99), having both a TV and a PC/video game player in the bedroom (OR: 1.41; 95% CI: 1.18-1.69) and study hours on weekdays (OR: 1.07; 95% CI: 1.02-1.13). In the case of parents, mothers' age (OR: 0.91; 95% CI: 0.86-0.97), maternal (OR: 1.13; 95% CI: 1.06-1.21) and paternal (OR: 1.08; 95% CI: 1.02-1.15) body mass index (BMI) and children's BMI misclassification (OR: 6.22; 95% CI: 3.62-10.71) were significant predictors of children's OW/OB. These findings could guide future investigations or public health initiatives to prevent and confront the childhood OB epidemic more efficiently.

  15. Genome-wide Identification and Expression Analysis of the CDPK Gene Family in Grape, Vitis spp.

    Science.gov (United States)

    Zhang, Kai; Han, Yong-Tao; Zhao, Feng-Li; Hu, Yang; Gao, Yu-Rong; Ma, Yan-Fei; Zheng, Yi; Wang, Yue-Jin; Wen, Ying-Qiang

    2015-06-30

    Calcium-dependent protein kinases (CDPKs) play vital roles in plant growth and development, biotic and abiotic stress responses, and hormone signaling. Little is known about the CDPK gene family in grapevine. In this study, we performed a genome-wide analysis of the 12X grape genome (Vitis vinifera) and identified nineteen CDPK genes. Comparison of the structures of grape CDPK genes allowed us to examine their functional conservation and differentiation. Segmentally duplicated grape CDPK genes showed high structural conservation and contributed to gene family expansion. Additional comparisons between grape and Arabidopsis thaliana demonstrated that several grape CDPK genes occured in the corresponding syntenic blocks of Arabidopsis, suggesting that these genes arose before the divergence of grapevine and Arabidopsis. Phylogenetic analysis divided the grape CDPK genes into four groups. Furthermore, we examined the expression of the corresponding nineteen homologous CDPK genes in the Chinese wild grape (Vitis pseudoreticulata) under various conditions, including biotic stress, abiotic stress, and hormone treatments. The expression profiles derived from reverse transcription and quantitative PCR suggested that a large number of VpCDPKs responded to various stimuli on the transcriptional level, indicating their versatile roles in the responses to biotic and abiotic stresses. Moreover, we examined the subcellular localization of VpCDPKs by transiently expressing six VpCDPK-GFP fusion proteins in Arabidopsis mesophyll protoplasts; this revealed high variability consistent with potential functional differences. Taken as a whole, our data provide significant insights into the evolution and function of grape CDPKs and a framework for future investigation of grape CDPK genes.

  16. Isolation, structural analysis, and expression characteristics of the maize nuclear factor Y gene families

    International Nuclear Information System (INIS)

    Zhang, Zhongbao; Li, Xianglong; Zhang, Chun; Zou, Huawen; Wu, Zhongyi

    2016-01-01

    NUCLEAR FACTOR-Y (NF-Y) has been shown to play an important role in growth, development, and response to environmental stress. A NF-Y complex, which consists of three subunits, NF-YA, NF-YB, and, NF-YC, binds to CCAAT sequences in a promoter to control the expression of target genes. Although NF-Y proteins have been reported in Arabidopsis and rice, a comprehensive and systematic analysis of ZmNF-Y genes has not yet been performed. To examine the functions of ZmNF-Y genes in this family, we isolated and characterized 50 ZmNF-Y (14 ZmNF-YA, 18 ZmNF-YB, and 18 ZmNF-YC) genes in an analysis of the maize genome. The 50 ZmNF-Y genes were distributed on all 10 maize chromosomes, and 12 paralogs were identified. Multiple alignments showed that maize ZmNF-Y family proteins had conserved regions and relatively variable N-terminal or C-terminal domains. The comparative syntenic map illustrated 40 paralogous NF-Y gene pairs among the 10 maize chromosomes. Microarray data showed that the ZmNF-Y genes had tissue-specific expression patterns in various maize developmental stages and in response to biotic and abiotic stresses. The results suggested that ZmNF-YB2, 4, 8, 10, 13, and 16 and ZmNF-YC6, 8, and 15 were induced, while ZmNF-YA1, 3, 4, 6, 7, 10, 12, and 13, ZmNF-YB15, and ZmNF-YC3 and 9 were suppressed by drought stress. ZmNF-YA3, ZmNF-YA8 and ZmNF-YA12 were upregulated after infection by the three pathogens, while ZmNF-YA1 and ZmNF-YB2 were suppressed. These results indicate that the ZmNF-Ys may have significant roles in the response to abiotic and biotic stresses. - Highlights: • We indicated a total of 50 members of ZmNF-Y gene family in maize genome. • We analyzed gene structure, protein architecture of ZmNF-Y genes. • Evolution pattern and phylogenic relationships were analyzed among 50 ZmNF-Y genes. • Expression pattern of ZmNF-Ys were detected in various maize tissues. • Transcript levels of ZmNF-Ys were measured under various abiotic and biotic stresses.

  17. Confirmatory factor analysis of the Infant Feeding Styles Questionnaire in Latino families.

    Science.gov (United States)

    Wood, Charles T; Perreira, Krista M; Perrin, Eliana M; Yin, H Shonna; Rothman, Russell L; Sanders, Lee M; Delamater, Alan M; Bentley, Margaret E; Bronaugh, Andrea B; Thompson, Amanda L

    2016-05-01

    Parent feeding practices affect risk of obesity in children. Latino children are at higher risk of obesity than the general population, yet valid measure of feeding practices, one of which is the Infant Feeding Styles Questionnaire (IFSQ), have not been formally validated in Spanish. To validate the IFSQ among Latino families, we conducted confirmatory factor analysis of pressuring, restrictive, and responsive feeding constructs from the IFSQ. The IFSQ was administered at the 12-month visit in the Greenlight study, a multi-center cluster randomized trial to prevent obesity. Parents were included if they were of Latino origin (n = 303) and completed an English or Spanish language modified IFSQ (without the indulgence construct). Scores from nine sub-constructs of the IFSQ were compared between English and Spanish language versions. We tested reliability with Cronbach's alpha coefficients and performed confirmatory factor analysis to examine factor loadings and goodness of fit characteristics, modifying constructs to achieve best fit. Of 303 parents completing the IFSQ, 84% were born outside the US, and 74% completed the IFSQ in Spanish. Reliability coefficients ranged from 0.28 to 0.61 for the laissez-faire sub-constructs and from 0.58 to 0.83 for the pressuring, restrictive, and responsive sub-constructs. Results for all coefficients were similar between participants responding to an English and Spanish version of the IFSQ. Goodness of fit indices ranged from CFI 0.82-1 and RMSEA 0.00-0.31, and the model performed best in pressuring-soothing (CFI 1.0, RMSEA 0.00) and restrictive-amount (CFI 0.98, RMSEA 0.1) sub-constructs. In a sample of Latino families, pressuring, restrictive, and responsive constructs performed well. The modified IFSQ in both English and Spanish-speaking Latino families may be used to assess parenting behaviors related to early obesity risk in this at-risk population. Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. An Analysis of the Fund Raising Issues for Indian Family Businesses

    OpenAIRE

    Bajaj, Manish Kumar

    2007-01-01

    Family controlled businesses are a very important organizational type as families control many large businesses around the world. In India, family controlled businesses account for 70 percent of total sales and net profits of the biggest 250 private sector companies. Family businesses play a very important role in the Indian economy. The literature on financial intermediation system has divided the system in two types: 1) Bank Based and 2) Market Based. The literature in Indian fin...

  19. 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.

  20. 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…

  1. 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…

  2. Supporting frail older people and their family carers at home using information and communication technology: cost analysis.

    Science.gov (United States)

    Magnusson, Lennart; Hanson, Elizabeth

    2005-09-01

    This paper describes a cost analysis of a home-based support service for frail older people and their family carers in two municipalities in West Sweden and using information and communication technology. A key challenge facing nurse managers across Europe is an increasingly aged population, combined with reduced numbers of young adults of working age. New solutions are needed to provide quality, cost-effective community care services to frail older people and their family carers. A case study methodology involving five families was used, and included a detailed cost description of the technology-based service compared with usual services. Cost data were collected in June 2002. This work formed part of a larger project exploring the impact of a technology-based service known as, Assisting Carers using Telematics Interventions to meet Older Persons' Needs (ACTION). In addition to cost data, information was gathered on the quality of life of frail older people and their family carers, and the job satisfaction and work methods of nurses and other practitioners based in the community. The cost analysis comprised a description of the family and their caring situation, the perceived benefits of the telematic based support service and an assessment of its impact on the use of other care services. These analyses were carried out with the help of needs assessors who were known to the families, and nurses working in the ACTION call centre. All results were validated by the five participating families. Cost savings were achieved in all cases, and the benefits to older people and their carers were also considerable. As a result of the cost analysis and overall evaluation data, ACTION has been implemented as a mainstream service in the municipalities involved. Researchers, nurses, other practitioners and community care managers can work together with frail older people and their family carers to develop quality, cost-effective support services that reduce demands on staff

  3. Conclusion of LOD-score analysis for family data generated under two-locus models.

    Science.gov (United States)

    Dizier, M H; Babron, M C; Clerget-Darpoux, F

    1996-06-01

    The power to detect linkage by the LOD-score method is investigated here for diseases that depend on the effects of two genes. The classical strategy is, first, to detect a major-gene (MG) effect by segregation analysis and, second, to seek for linkage with genetic markers by the LOD-score method using the MG parameters. We already showed that segregation analysis can lead to evidence for a MG effect for many two-locus models, with the estimates of the MG parameters being very different from those of the two genes involved in the disease. We show here that use of these MG parameter estimates in the LOD-score analysis may lead to a failure to detect linkage for some two-locus models. For these models, use of the sib-pair method gives a non-negligible increase of power to detect linkage. The linkage-homogeneity test among subsamples differing for the familial disease distribution provides evidence of parameter misspecification, when the MG parameters are used. Moreover, for most of the models, use of the MG parameters in LOD-score analysis leads to a large bias in estimation of the recombination fraction and sometimes also to a rejection of linkage for the true recombination fraction. A final important point is that a strong evidence of an MG effect, obtained by segregation analysis, does not necessarily imply that linkage will be detected for at least one of the two genes, even with the true parameters and with a close informative marker.

  4. Conclusions of LOD-score analysis for family data generated under two-locus models

    Energy Technology Data Exchange (ETDEWEB)

    Dizier, M.H.; Babron, M.C.; Clergt-Darpoux, F. [Unite de Recherches d`Epidemiologie Genetique, Paris (France)

    1996-06-01

    The power to detect linkage by the LOD-score method is investigated here for diseases that depend on the effects of two genes. The classical strategy is, first, to detect a major-gene (MG) effect by segregation analysis and, second, to seek for linkage with genetic markers by the LOD-score method using the MG parameters. We already showed that segregation analysis can lead to evidence for a MG effect for many two-locus models, with the estimates of the MG parameters being very different from those of the two genes involved in the disease. We show here that use of these MG parameter estimates in the LOD-score analysis may lead to a failure to detect linkage for some two-locus models. For these models, use of the sib-pair method gives a non-negligible increase of power to detect linkage. The linkage-homogeneity test among subsamples differing for the familial disease distribution provides evidence of parameter misspecification, when the MG parameters are used. Moreover, for most of the models, use of the MG parameters in LOD-score analysis leads to a large bias in estimation of the recombination fraction and sometimes also to a rejection of linkage for the true recombination fraction. A final important point is that a strong evidence of an MG effect, obtained by segregation analysis, does not necessarily imply that linkage will be detected for at least one of the two genes, even with the true parameters and with a close informative marker. 17 refs., 3 tabs.

  5. Is frequency of family meals associated with fruit and vegetable intake among preschoolers? A logistic regression analysis.

    Science.gov (United States)

    Caldwell, A R; Terhorst, L; Skidmore, E R; Bendixen, R M

    2018-01-23

    The present study aimed to examine the associations between frequency of family meals and low fruit and vegetable intake in preschool children. Promoting healthy nutrition early in life is recommended for combating childhood obesity. Frequency of family meals is associated with fruit and vegetable intake in school-age children and adolescents; the relationship in young children is less clear. We completed a secondary analysis using data from the Early Childhood Longitudinal Study-Birth Cohort. Participants included children, born in the year 2001, to mothers who were >15 years old (n = 8 950). Data were extracted from structured parent interviews during the year prior to kindergarten. We used hierarchical logistic regression to describe the relationships between frequency of family meals and low fruit and vegetable intake. Frequency of family meals was associated with low fruit and vegetable intake. The odds of low fruit and vegetable intake were greater for preschoolers who shared less than three evening family meals per week (odds ratio = 1.5, β = 0.376, P meal with family every night. Fruit and vegetable intake is related to frequency of family meals in preschool-age children. Educating parents about the potential benefits of frequent shared meals may lead to a higher fruit and vegetable consumption among preschoolers. Future studies should address other factors that likely contribute to eating patterns during the preschool years. © 2018 The British Dietetic Association Ltd.

  6. 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.

  7. Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

    Directory of Open Access Journals (Sweden)

    LILIAN JARA

    2004-01-01

    Full Text Available BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G and one variant of unknown significance (E1250K were found in four of these families. Also, a new mutation (4185delCAAG and one previously described polymorphism (E1038G were found in two other families. The 185delAG was found in a 3.17 % of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origin

  8. Treating conduct disorder: An effectiveness and natural language analysis study of a new family-centred intervention program.

    Science.gov (United States)

    Stevens, Kimberly A; Ronan, Prof Kevin; Davies, Gene

    2017-05-01

    This paper reports on a new family-centred, feedback-informed intervention focused on evaluating therapeutic outcomes and language changes across treatment for conduct disorder (CD). The study included 26 youth and families from a larger randomised, controlled trial (Ronan et al., in preparation). Outcome measures reflected family functioning/youth compliance, delinquency, and family goal attainment. First- and last-treatment session audio files were transcribed into more than 286,000 words and evaluated through the Linguistic Inquiry and Word Count Analysis program (Pennebaker et al., 2007). Significant outcomes across family functioning/youth compliance, delinquency, goal attainment and word usage reflected moderate-strong effect sizes. Benchmarking findings also revealed reduced time of treatment delivery compared to a gold standard approach. Linguistic analysis revealed specific language changes across treatment. For caregivers, increased first person, action-oriented, present tense, and assent type words and decreased sadness words were found; for youth, significant reduction in use of leisure words. This study is the first using lexical analyses of natural language to assess change across treatment for conduct disordered youth and families. Such findings provided strong support for program tenets; others, more speculative support. Copyright © 2016. Published by Elsevier B.V.

  9. A dyadic analysis of stress processes in Latinas with breast cancer and their family caregivers.

    Science.gov (United States)

    Segrin, Chris; Badger, Terry A; Sikorskii, Alla; Crane, Tracy E; Pace, Thaddeus W W

    2018-03-01

    Breast cancer diagnosis and treatment negatively affect quality of life for survivors and their family caregivers. The stress process model has been useful for describing the cascade of social and psychological experiences that culminate in degraded quality of life for both survivors and their family caregivers. This study is designed to test theoretically specified predictors of negative psychosocial outcomes in a dyadic context. Participants were 230 dyads composed of Latinas recently diagnosed with breast cancer and their primary family caregiver, who completed measures of socioeconomic status, stress, family conflict, depression, and anxiety. Data were analyzed following the Actor-Partner Interdependence Mediation Model in structural equation modeling. For both survivors and caregivers, there were significant direct and indirect actor effects (through family conflict) of perceived stress on depression and anxiety. Several indirect partner effects were also evident in this sample. Specifically, caregivers' stress was predictive of survivors' depression and anxiety through survivors' increased perceptions of family conflict. As predicted by the stress process model, stress and family conflict were predictive of psychological distress in breast cancer survivors and their family caregivers. Significant partner effects in the Actor-Partner Interdependence Mediation Model suggest that there are some dyadic influences, particularly from caregivers' stress to survivors' perceptions of exacerbated family conflict. These findings show how strained family relationships can aggravate the well-being of cancer survivors and their family caregivers through this challenging experience. Copyright © 2017 John Wiley & Sons, Ltd.

  10. Gay men with AIDS and their families of origin: an analysis of social support.

    Science.gov (United States)

    Kadushin, G

    1996-05-01

    This article reviews the literature on the relationships between gay men with AIDS and their families of origin to determine why the family is not a principal source of social support. Several reasons explain the absence of the family from the support network, including the family's lack of acceptance of homosexuality and the relationship with a male partner; the stigma associated with AIDS; the inability of family members to communicate openly about homosexuality and AIDS; the lack of competence among family members in dealing with HIV issues; and overprotective, infantilizing behavior by parents. A sibling, most often a sister, is the family member to whom the gay man with AIDS feels closest and from whom he is most likely to seek support. Implications for practice and research are discussed.

  11. 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. Copyright

  12. A new family of phosphoinositide phosphatases in microorganisms: identification and biochemical analysis

    Directory of Open Access Journals (Sweden)

    Bennett Hayley J

    2010-08-01

    Full Text Available Abstract Background Phosphoinositide metabolism is essential to membrane dynamics and impinges on many cellular processes, including phagocytosis. Modulation of phosphoinositide metabolism is important for pathogenicity and virulence of many human pathogens, allowing them to survive and replicate in the host cells. Phosphoinositide phosphatases from bacterial pathogens are therefore key players in this modulation and constitute attractive targets for chemotherapy. MptpB, a virulence factor from Mycobacterium tuberculosis, has phosphoinositide phosphatase activity and a distinct active site P-loop signature HCXXGKDR that shares characteristics with eukaryotic lipid phosphatases and protein tyrosine phosphatases. We used this P-loop signature as a "diagnostic motif" to identify related putative phosphatases with phosphoinositide activity in other organisms. Results We found more than 200 uncharacterised putative phosphatase sequences with the conserved signature in bacteria, with some related examples in fungi and protozoa. Many of the sequences identified belong to recognised human pathogens. Interestingly, no homologues were found in any other organisms including Archaea, plants, or animals. Phylogenetic analysis revealed that these proteins are unrelated to classic eukaryotic lipid phosphatases. However, biochemical characterisation of those from Listeria monocytogenes and Leishmania major, demonstrated that, like MptpB, they have phosphatase activity towards phosphoinositides. Mutagenesis studies established that the conserved Asp and Lys in the P-loop signature (HCXXGKDR are important in catalysis and substrate binding respectively. Furthermore, we provide experimental evidence that the number of basic residues in the P-loop is critical in determining activity towards poly-phosphoinositides. Conclusion This new family of enzymes in microorganisms shows distinct sequence and biochemical characteristics to classic eukaryotic lipid phosphatases

  13. A new family of phosphoinositide phosphatases in microorganisms: identification and biochemical analysis.

    Science.gov (United States)

    Beresford, Nicola J; Saville, Charis; Bennett, Hayley J; Roberts, Ian S; Tabernero, Lydia

    2010-08-02

    Phosphoinositide metabolism is essential to membrane dynamics and impinges on many cellular processes, including phagocytosis. Modulation of phosphoinositide metabolism is important for pathogenicity and virulence of many human pathogens, allowing them to survive and replicate in the host cells. Phosphoinositide phosphatases from bacterial pathogens are therefore key players in this modulation and constitute attractive targets for chemotherapy. MptpB, a virulence factor from Mycobacterium tuberculosis, has phosphoinositide phosphatase activity and a distinct active site P-loop signature HCXXGKDR that shares characteristics with eukaryotic lipid phosphatases and protein tyrosine phosphatases. We used this P-loop signature as a "diagnostic motif" to identify related putative phosphatases with phosphoinositide activity in other organisms. We found more than 200 uncharacterised putative phosphatase sequences with the conserved signature in bacteria, with some related examples in fungi and protozoa. Many of the sequences identified belong to recognised human pathogens. Interestingly, no homologues were found in any other organisms including Archaea, plants, or animals. Phylogenetic analysis revealed that these proteins are unrelated to classic eukaryotic lipid phosphatases. However, biochemical characterisation of those from Listeria monocytogenes and Leishmania major, demonstrated that, like MptpB, they have phosphatase activity towards phosphoinositides. Mutagenesis studies established that the conserved Asp and Lys in the P-loop signature (HCXXGKDR) are important in catalysis and substrate binding respectively. Furthermore, we provide experimental evidence that the number of basic residues in the P-loop is critical in determining activity towards poly-phosphoinositides. This new family of enzymes in microorganisms shows distinct sequence and biochemical characteristics to classic eukaryotic lipid phosphatases and they have no homologues in humans. This study provides

  14. Blogs Written by Families During Their Child's Hospitalization: A Thematic Narrative Analysis.

    Science.gov (United States)

    Jones, Carolyn W; Lynn, Mary R

    2018-04-04

    To identify stressors experienced by parents whose child is hospitalized in an intensive care unit, and identify coping mechanisms utilized to ameliorate those stressors. Using Lazarus and Folkman's Transactional Model of Stress and Coping as a framework, 20 publicly available blogs written by parents while their child was a patient in intensive care were analyzed using thematic analysis techniques. Stressors and coping techniques were identified, and grouped by theme for further analysis. The most frequently noted types of stressors were related to information; both knowing and not knowing information related to their child's condition was reported as stressful, as well as waiting for information and when the information was not what was expected. Reframing was the emotion-focused technique most often identified by the parents, and seeking support was the most frequently noted problem-focused coping mechanism. Illness blogs represent a rich source of information regarding the experiences of families with a child in the hospital. Parents transitioned from more emotion-focused coping strategies to problem-focused strategies during their child's hospital stay. When nurses give information to parents, they should be aware that knowing information can be stressful as well as not knowing, and care should be taken to provide support for parents after information is given. Nurses can also help parents identify sources of support. Writing about their experiences, either online or in a journal, may help parents cope in stressful situations. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Analysis of Domain Architecture and Phylogenetics of Family 2 Glycoside Hydrolases (GH2.

    Directory of Open Access Journals (Sweden)

    David Talens-Perales

    Full Text Available In this work we report a detailed analysis of the topology and phylogenetics of family 2 glycoside hydrolases (GH2. We distinguish five topologies or domain architectures based on the presence and distribution of protein domains defined in Pfam and Interpro databases. All of them share a central TIM barrel (catalytic module with two β-sandwich domains (non-catalytic at the N-terminal end, but differ in the occurrence and nature of additional non-catalytic modules at the C-terminal region. Phylogenetic analysis was based on the sequence of the Pfam Glyco_hydro_2_C catalytic module present in most GH2 proteins. Our results led us to propose a model in which evolutionary diversity of GH2 enzymes is driven by the addition of different non-catalytic domains at the C-terminal region. This model accounts for the divergence of β-galactosidases from β-glucuronidases, the diversification of β-galactosidases with different transglycosylation specificities, and the emergence of bicistronic β-galactosidases. This study also allows the identification of groups of functionally uncharacterized protein sequences with potential biotechnological interest.

  16. Genome wide identification and expression analysis of Homeodomain leucine zipper subfamily IV (HDZ IV gene family from Musa accuminata

    Directory of Open Access Journals (Sweden)

    Ashutosh ePandey

    2016-02-01

    Full Text Available The homedodomain zipper family (HD-ZIP of transcription factors is present only in plants and plays important role in the regulation of plant-specific processes. The subfamily IV of HDZ transcription factors (HD-ZIP IV has primarily been implicated in the regulation of epidermal structure development. Though this gene family is present in all lineages of land plants, members of this gene family have not been identified in banana, which is one of the major staple fruit crops. In the present work, we identified 21 HDZIV genes in banana by the computational analysis of banana genome resource. Our analysis suggested that these genes putatively encode proteins having all the characteristic domains of HDZIV transcription factors. The phylogenetic analysis of the banana HDZIV family genes further confirmed that after separation from a common ancestor, the banana and poales lineages might have followed distinct evolutionary paths. Further, we conclude that segmental duplication played a major role in the evolution of banana HDZIV genes. All the identified banana HDZIV genes expresses in different banana tissue, however at varying levels. The transcript levels of some of the banana HDZIV genes were also detected in banana fruit pulp, suggesting their putative role in fruit attributes. A large number of genes of this family showed modulated expression under drought and salinity stress. Taken together, the present work lays a foundation for elucidation of functional aspects of the banana HDZIV genes and for their possible use in the banana improvement programs.

  17. COMPARATIVE ANALYSIS OF FAMILY BUSINESSES WITH NONFAMILY BUSINESSES: EMPIRICAL EVIDENCE FROM INDIA

    Directory of Open Access Journals (Sweden)

    Hima Bindu Kota

    2016-05-01

    Full Text Available Family businesses are fundamental to nation building as they contribute towards the GDP of any country and are also major employment creators. Therefore, family business management is an emerging area of academic interest. In this regard, comparison between family and non-family businesses has become an important area of research. The present study analyses the performance of Indian family businesses in comparison to non-family business for firms listed on BSE 500 Index for a period of 11 years from 2005-2015. Any firm with 40% or more promoter or promoter group holding has been identified as a family business. Performance of family businesses was measured across 5 categories, viz, Profitability, Size, Market Position, Debt Position and Number of Employees. Within these 5 categories, comparison was done on the following 12 variables like Return on Net Worth (RONW, Return on Capital Employed (ROCE, Return on Total Assets (ROTA, Firm Size (SIZE, Total Assets (ASSETS, Total Revenue (REV, Market Capitalization (MACP, Current Ratio (CR, Quick Ratio (QR, Debt-Equity Ratio (DER, Interest Coverage Ratio (INTCOV and Number of Employees (EMP, using independent t-test. It was found that in the Indian context, non-family business outperform family businesses in all 5 categories studied.

  18. Identification and analysis of YELLOW protein family genes in the silkworm, Bombyx mori

    Directory of Open Access Journals (Sweden)

    Yi Yong-Zhu

    2006-08-01

    Full Text Available Abstract Background The major royal jelly proteins/yellow (MRJP/YELLOW family possesses several physiological and chemical functions in the development of Apis mellifera and Drosophila melanogaster. Each protein of the family has a conserved domain named MRJP. However, there is no report of MRJP/YELLOW family proteins in the Lepidoptera. Results Using the YELLOW protein sequence in Drosophila melanogaster to BLAST silkworm EST database, we found a gene family composed of seven members with a conserved MRJP domain each and named it YELLOW protein family of Bombyx mori. We completed the cDNA sequences with RACE method. The protein of each member possesses a MRJP domain and a putative cleavable signal peptide consisting of a hydrophobic sequence. In view of genetic evolution, the whole Bm YELLOW protein family composes a monophyletic group, which is distinctly separate from Drosophila melanogaster and Apis mellifera. We then showed the tissue expression profiles of Bm YELLOW protein family genes by RT-PCR. Conclusion A Bombyx mori YELLOW protein family is found to be composed of at least seven members. The low homogeneity and unique pattern of gene expression by each member among the family ensure us to prophesy that the members of Bm YELLOW protein family would play some important physiological functions in silkworm development.

  19. Genome-Wide Analysis of the Musa WRKY Gene Family: Evolution and Differential Expression during Development and Stress.

    Science.gov (United States)

    Goel, Ridhi; Pandey, Ashutosh; Trivedi, Prabodh K; Asif, Mehar H

    2016-01-01

    The WRKY gene family plays an important role in the development and stress responses in plants. As information is not available on the WRKY gene family in Musa species, genome-wide analysis has been carried out in this study using available genomic information from two species, Musa acuminata and Musa balbisiana. Analysis identified 147 and 132 members of the WRKY gene family in M. acuminata and M. balbisiana, respectively. Evolutionary analysis suggests that the WRKY gene family expanded much before the speciation in both the species. Most of the orthologs retained in two species were from the γ duplication event which occurred prior to α and β genome-wide duplication (GWD) events. Analysis also suggests that subtle changes in nucleotide sequences during the course of evolution have led to the development of new motifs which might be involved in neo-functionalization of different WRKY members in two species. Expression and cis-regulatory motif analysis suggest possible involvement of Group II and Group III WRKY members during various stresses and growth/development including fruit ripening process respectively.

  20. Genome-wide analysis of the AP2/ERF family in Musa species reveals divergence and neofunctionalisation during evolution.

    Science.gov (United States)

    Lakhwani, Deepika; Pandey, Ashutosh; Dhar, Yogeshwar Vikram; Bag, Sumit Kumar; Trivedi, Prabodh Kumar; Asif, Mehar Hasan

    2016-01-06

    AP2/ERF domain containing transcription factor super family is one of the important regulators in the plant kingdom. The involvement of AP2/ERF family members has been elucidated in various processes associated with plant growth, development as well as in response to hormones, biotic and abiotic stresses. In this study, we carried out genome-wide analysis to identify members of AP2/ERF family in Musa acuminata (A genome) and Musa balbisiana (B genome) and changes leading to neofunctionalisation of genes. Analysis identified 265 and 318 AP2/ERF encoding genes in M. acuminata and M. balbisiana respectively which were further classified into ERF, DREB, AP2, RAV and Soloist groups. Comparative analysis indicated that AP2/ERF family has undergone duplication, loss and divergence during evolution and speciation of the Musa A and B genomes. We identified nine genes which are up-regulated during fruit ripening and might be components of the regulatory machinery operating during ethylene-dependent ripening in banana. Tissue-specific expression analysis of the genes suggests that different regulatory mechanisms might be involved in peel and pulp ripening process through recruiting specific ERFs in these tissues. Analysis also suggests that MaRAV-6 and MaERF026 have structurally diverged from their M. balbisiana counterparts and have attained new functions during ripening.

  1. Genome-wide analysis of the Musa WRKY gene family: evolution and differential expression during development and stress

    Directory of Open Access Journals (Sweden)

    Ridhi eGoel

    2016-03-01

    Full Text Available The WRKY gene family plays an important role in the development and stress responses in plants. As information is not available on the WRKY gene family in Musa species, genome-wide analysis has been carried out in this study using available genomic information from two species, Musa acuminata and Musa balbisiana. Analysis identified 147 and 132 members of the WRKY gene family in M. acuminata and M. balbisiana respectively. Evolutionary analysis suggests that the WRKY gene family expanded much before the speciation in both the species. Most of the orthologs retained in two species were from the γ duplication event which occurred prior to α and β genome-wide duplication (GWD events. Analysis also suggests that subtle changes in nucleotide sequences during the course of evolution have led to the development of new motifs which might be involved in neo-functionalization of different WRKY members in two species. Expression and cis-regulatory motif analysis suggest possible involvement of Group II and Group III WRKY members during various stresses and growth/ development including fruit ripening process respectively.

  2. An analysis on the issues of the rights of spouses in the Islamic Family Law in Malaysia

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    Md Zawawi Bin Abu Bakar

    2013-07-01

    Full Text Available This paper intends to analyze problems regarding mutual rights of Muslims married couple in Malaysia. It has drawn the attention of many researchers to carry out studies on this issue since there have been accusations and complaints on the implementation of the Islamic Family Law (IFL by the Syariah Court, which is said to have discriminated the wife/women of their rights. The qualitative approach research employed interviews and content analysis as method of study on the Islamic Family Law as well as on the documented cases. The results of the research showed that among the most disputable cases were matters related to polygamy, fasakh, jointly acquired property and children custodian. Conversely, all data were analyzed by using the qualitative data analysis, concluded that the Islamic Family Law in Malaysia has infact implemented the concept of equality.

  3. Expression analysis of the Theileria parva subtelomere-encoded variable secreted protein gene family.

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    Jacqueline Schmuckli-Maurer

    Full Text Available The intracellular protozoan parasite Theileria parva transforms bovine lymphocytes inducing uncontrolled proliferation. Proteins released from the parasite are assumed to contribute to phenotypic changes of the host cell and parasite persistence. With 85 members, genes encoding subtelomeric variable secreted proteins (SVSPs form the largest gene family in T. parva. The majority of SVSPs contain predicted signal peptides, suggesting secretion into the host cell cytoplasm.We analysed SVSP expression in T. parva-transformed cell lines established in vitro by infection of T or B lymphocytes with cloned T. parva parasites. Microarray and quantitative real-time PCR analysis revealed mRNA expression for a wide range of SVSP genes. The pattern of mRNA expression was largely defined by the parasite genotype and not by host background or cell type, and found to be relatively stable in vitro over a period of two months. Interestingly, immunofluorescence analysis carried out on cell lines established from a cloned parasite showed that expression of a single SVSP encoded by TP03_0882 is limited to only a small percentage of parasites. Epitope-tagged TP03_0882 expressed in mammalian cells was found to translocate into the nucleus, a process that could be attributed to two different nuclear localisation signals.Our analysis reveals a complex pattern of Theileria SVSP mRNA expression, which depends on the parasite genotype. Whereas in cell lines established from a cloned parasite transcripts can be found corresponding to a wide range of SVSP genes, only a minority of parasites appear to express a particular SVSP protein. The fact that a number of SVSPs contain functional nuclear localisation signals suggests that proteins released from the parasite could contribute to phenotypic changes of the host cell. This initial characterisation will facilitate future studies on the regulation of SVSP gene expression and the potential biological role of these enigmatic

  4. Molecular cloning and expression analysis of the sucrose transporter gene family from Theobroma cacao L.

    Science.gov (United States)

    Li, Fupeng; Wu, Baoduo; Qin, Xiaowei; Yan, Lin; Hao, Chaoyun; Tan, Lehe; Lai, Jianxiong

    2014-08-10

    In this study, we performed cloning and expression analysis of six putative sucrose transporter genes, designated TcSUT1, TcSUT2, TcSUT3, TcSUT4, TcSUT5 and TcSUT6, from the cacao genotype 'TAS-R8'. The combination of cDNA and genomic DNA sequences revealed that the cacao SUT genes contained exon numbers ranging from 1 to 14. The average molecular mass of all six deduced proteins was approximately 56 kDa (range 52 to 66 kDa). All six proteins were predicted to exhibit typical features of sucrose transporters with 12 trans-membrane spanning domains. Phylogenetic analysis revealed that TcSUT2 and TcSUT4 belonged to Group 2 SUT and Group 4 SUT, respectively, and the other TcSUT proteins were belonging to Group 1 SUT. Real-time PCR was conducted to investigate the expression pattern of each member of the SUT family in cacao. Our experiment showed that TcSUT1 was expressed dominantly in pods and that, TcSUT3 and TcSUT4 were highly expressed in both pods and in bark with phloem. Within pods, TcSUT1 and TcSUT4 were expressed more in the seed coat and seed from the pod enlargement stage to the ripening stage. TcSUT5 expression sharply increased to its highest expression level in the seed coat during the ripening stage. Expression pattern analysis indicated that TcSUT genes may be associated with photoassimilate transport into developing seeds and may, therefore, have an impact on seed production. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Identification of the WRKY gene family and functional analysis of two genes in Caragana intermedia.

    Science.gov (United States)

    Wan, Yongqing; Mao, Mingzhu; Wan, Dongli; Yang, Qi; Yang, Feiyun; Mandlaa; Li, Guojing; Wang, Ruigang

    2018-02-09

    WRKY transcription factors, one of the largest families of transcriptional regulators in plants, play important roles in plant development and various stress responses. The WRKYs of Caragana intermedia are still not well characterized, although many WRKYs have been identified in various plant species. We identified 53 CiWRKY genes from C. intermedia transcriptome data, 28 of which exhibited complete open reading frames (ORFs). These CiWRKYs were divided into three groups via phylogenetic analysis according to their WRKY domains and zinc finger motifs. Conserved domain analysis showed that the CiWRKY proteins contain a highly conserved WRKYGQK motif and two variant motifs (WRKYGKK and WKKYEEK). The subcellular localization of CiWRKY26 and CiWRKY28-1 indicated that these two proteins localized exclusively to nuclei, supporting their role as transcription factors. The expression patterns of the 28 CiWRKYs with complete ORFs were examined through quantitative real-time PCR (qRT-PCR) in various tissues and under different abiotic stresses (drought, cold, salt, high-pH and abscisic acid (ABA)). The results showed that each CiWRKY responded to at least one stress treatment. Furthermore, overexpression of CiWRKY75-1 and CiWRKY40-4 in Arabidopsis thaliana suppressed the drought stress tolerance of the plants and delayed leaf senescence, respectively. Fifty-three CiWRKY genes from the C. intermedia transcriptome were identified and divided into three groups via phylogenetic analysis. The expression patterns of the 28 CiWRKYs under different abiotic stresses suggested that each CiWRKY responded to at least one stress treatment. Overexpression of CiWRKY75-1 and CiWRKY40-4 suppressed the drought stress tolerance of Arabidopsis and delayed leaf senescence, respectively. These results provide a basis for the molecular mechanism through which CiWRKYs mediate stress tolerance.

  6. Genome-Wide Identification and Expression Analysis of the UGlcAE Gene Family in Tomato

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    Xing Ding

    2018-05-01

    Full Text Available The UGlcAE has the capability of interconverting UDP-d-galacturonic acid and UDP-d-glucuronic acid, and UDP-d-galacturonic acid is an activated precursor for the synthesis of pectins in plants. In this study, we identified nine UGlcAE protein-encoding genes in tomato. The nine UGlcAE genes that were distributed on eight chromosomes in tomato, and the corresponding proteins contained one or two trans-membrane domains. The phylogenetic analysis showed that SlUGlcAE genes could be divided into seven groups, designated UGlcAE1 to UGlcAE6, of which the UGlcAE2 were classified into two groups. Expression profile analysis revealed that the SlUGlcAE genes display diverse expression patterns in various tomato tissues. Selective pressure analysis indicated that all of the amino acid sites of SlUGlcAE proteins are undergoing purifying selection. Fifteen stress-, hormone-, and development-related elements were identified in the upstream regions (0.5 kb of these SlUGlcAE genes. Furthermore, we investigated the expression patterns of SlUGlcAE genes in response to three hormones (indole-3-acetic acid (IAA, gibberellin (GA, and salicylic acid (SA. We detected firmness, pectin contents, and expression levels of UGlcAE family genes during the development of tomato fruit. Here, we systematically summarize the general characteristics of the SlUGlcAE genes in tomato, which could provide a basis for further function studies of tomato UGlcAE genes.

  7. Positioning Analysis of Filipino Family Narratives in the Context of Prisoner Reintegration

    OpenAIRE

    Donald Jay Bertulfo; Nico Canoy; Michael Angelo Celeste

    2016-01-01

    Prisoner reintegration may be viewed as a crisis situation that may lead to a period of instability within the family. Existing researches in this area remain focused on the individual perspective of ex-offenders rather than the experiences of receiving families back in their households. In this study, we aim to examine the reintegration experiences of the family as a group from an initial state of chaos to equilibrium upon the reentry of an incarcerated parent. Using a sample of 12 interview...

  8. The costs of preventing the spread of respiratory infection in family physician offices: a threshold analysis

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    Gray David

    2007-11-01

    Full Text Available Abstract Background Influenza poses concerns about epidemic respiratory infection. Interventions designed to prevent the spread of respiratory infection within family physician (FP offices could potentially have a significant positive influence on the health of Canadians. The main purpose of this paper is to estimate the explicit costs of such an intervention. Methods A cost analysis of a respiratory infection control was conducted. The costs were estimated from the perspective of provincial government. In addition, a threshold analysis was conducted to estimate a threshold value of the intervention's effectiveness that could generate potential savings in terms of averted health-care costs by the intervention that exceed the explicit costs. The informational requirements for these implicit costs savings are high, however. Some of these elements, such as the cost of hospitalization in the event of contacting influenza, and the number of patients passing through the physicians' office, were readily available. Other pertinent points of information, such as the proportion of infected people who require hospitalization, could be imported from the existing literature. We take an indirect approach to calculate a threshold value for the most uncertain piece of information, namely the reduction in the probability of the infection spreading as a direct result of the intervention, at which the intervention becomes worthwhile. Results The 5-week intervention costs amounted to a total of $52,810.71, or $131,094.73 prorated according to the length of the flu season, or $512,729.30 prorated for the entire calendar year. The variable costs that were incurred for this 5-week project amounted to approximately $923.16 per participating medical practice. The (fixed training costs per practice were equivalent to $73.27 for the 5-week intervention, or $28.14 for 13-week flu season, or $7.05 for an entire one-year period. Conclusion Based on our conservative estimates

  9. Family relationships versus learning: an analysis with children aged 5 and 6 years

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    Marisa Claudia Jacometo Durante

    2017-01-01

    Full Text Available As the first mediator between man and culture, the family constitutes the dynamic unity of affective, social and cognitive relations that are immersed in the material, historical and cultural conditions of a given social group. The overall objective of the study was to investigate whether family relationships can compromise children’s learning. Specifically, it was intended to: a Identify conflicts in family relationships; B To verify if the conflicts in the family relations can compromise the interpersonal relationship of the children in the literacy phase; C Analyze whether conflicts in family relationships interfere with children’s learning. A total of 219 families with children aged 5 and 6 participated in the study. The main results indicate that there is a distancing of the parents in relation to the school life of the children, as well as in the family relationships there is a mixture of conflict and affection. It is considered that the learning of children can be compromised by conflicts in family relationships because learning and school performance depend primarily on family interaction and later on the relationship between teacher-student.

  10. Association of Group Prenatal Care in US Family Medicine Residencies With Maternity Care Practice: A CERA Secondary Data Analysis.

    Science.gov (United States)

    Barr, Wendy B; Tong, Sebastian T; LeFevre, Nicholas M

    2017-03-01

    Group prenatal care has been shown to improve both maternal and neonatal outcomes. With increasing adaption of group prenatal care by family medicine residencies, this model may serve as a potential method to increase exposure to and interest in maternity care among trainees. This study aims to describe the penetration, regional and program variations, and potential impacts on future maternity care practice of group prenatal care in US family medicine residencies. The CAFM Educational Research Alliance (CERA) conducted a survey of all US family medicine residency program directors in 2013 containing questions about maternity care training. A secondary data analysis was completed to examine relevant data on group prenatal care in US family medicine residencies and maternity care practice patterns. 23.1% of family medicine residency programs report provision of group prenatal care. Programs with group prenatal care reported increased number of vaginal deliveries per resident. Controlling for average number of vaginal deliveries per resident, programs with group prenatal care had a 2.35 higher odds of having more than 10% of graduates practice obstetrics and a 2.93 higher odds of having at least one graduate in the past 5 years enter an obstetrics fellowship. Residency programs with group prenatal care models report more graduates entering OB fellowships and practicing maternity care. Implementing group prenatal care in residency training can be one method in a multifaceted approach to increasing maternity care practice among US family physicians.

  11. Vulnerability of family livestock farming on the Livramento-Rivera border of Brazil and Uruguay: Comparative analysis

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    P. D. Waquil

    2016-03-01

    Full Text Available Social, ecological, and economic sciences have all shown interest in studying the social group called family livestock farmers. The main characteristic of this group, which is present in the Pampa biome in Southern Brazil and Uruguay, is beef cattle production based on family work on small lands, expressing an autonomous way of life which is, however, highly dependent on strong relations with the physical environment and marked by risk aversion. In this study we made a comparative analysis of vulnerability factors of family livestock farming in Brazil and Uruguay. We also compared these social actors’ perceptions of risks, and the strategies built to mitigate threats. A survey was thus carried out and included 16 family livestock farmers’ interviews, eight in each country,near the cities of Santana do Livramento (Brazil and Rivera (Uruguay. Although these cities are next to each other on each side of the border and thus present environmental similarities, we chose them because family farming was not subjected to the same political and economic conditions which might (or might not have influenced farmers’ perceptions and reactions. Results showed that livestock farmers were mainly affected by vulnerabilities arising from external elements such as the climate (e.g. droughts or harsh winters, but also from internal elements (lack of land access and successors. From the family livestock farmers’ standpoint, the highest risks to their production systems and social system reproduction were more related to climate than to price and market variations.

  12. Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

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    Sandra Gutiérrez

    2012-01-01

    Full Text Available In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI. 22 individuals (15 affected and seven unaffected belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype, two had the hypocalcified phenotype and one had the hypomaturative phenotype. Anterior open bite and mandibular retrognathism were the most frequent skeletal abnormalities in the families with ADAI. No mutations were found. These findings suggest that ADAI in these Colombian families was unrelated to previously described mutations in the ENAM gene. These results also indicate that other regions not included in this investigation, such as the promoter region, introns and other genes should be considered as potential ADAI candidates.

  13. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

    International Nuclear Information System (INIS)

    Pylkäs, Katri; Erkko, Hannele; Nikkilä, Jenni; Sólyom, Szilvia; Winqvist, Robert

    2008-01-01

    BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in BRCA1, BRCA2 and PALB2. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative. We identified one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either BRCA2 or PALB2. In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1. On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility

  14. Similarity Analysis About The Training Of Family Health Strategy Professionals For The Psychosocial Care Of The Elderly

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    Verônica Lourdes Lima Batista Maia

    2017-08-01

    Full Text Available Background: Elderly mental health is an important topic of discussion to Brazilian public health because it involves factors related to the training of health professionals focused on these demands in the Family Health Strategy. Objectives: To make a similarity analysis about the training of the Family Health Strategy professionals for psychosocial care for the elderly. Methodology: Qualitative research carried out with 31 professionals from the Family Health Strategy in the city of Picos, Piauí, Brazil. Data were collected through a semi-structured interview script. The interviews were performed in a reserved room and recorded with the aid of an MP4 player. The data were processed by the IRAMUTEQ software and analyzed through similarity analysis that is based on graph theory. Results: The study participants were 13 doctors and 18 nurses, 27 (87.09% were female. The training time of these professionals was comprised between 2 to 32 years of training and the duration of the Health Strategy from 1 year to 16 years. According to the co-occurrence tree, the data indicate that: the word "elderly" is at the heart of the ramifications and expresses how family and professionals can contribute to treatment; another demonstrated representation is that it is difficult for professionals to carry out their activities with the elderly due to lack of training in the specific area of ​​mental health. Conclusion: the family plays a fundamental role in the elderly care with psychosocial needs and the professionals of the Family Health Strategy present difficulties to carry out comprehensive care due to deficiencies in their training. Keywords: Mental health. Family Health. Elderly.

  15. Annotation, Phylogeny and Expression Analysis of the Nuclear Factor Y Gene Families in Common Bean (Phaseolus vulgaris

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    Carolina eRípodas

    2015-01-01

    Full Text Available In the past decade, plant nuclear factor Y (NF-Y genes have gained major interest due to their roles in many biological processes in plant development or adaptation to environmental conditions, particularly in the root nodule symbiosis established between legume plants and nitrogen fixing bacteria. NF-Ys are heterotrimeric transcriptional complexes composed of three subunits, NF-YA, NF-YB and NF-YC, which bind with high affinity and specificity to the CCAAT box, a cis element present in many eukaryotic promoters. In plants, NF-Y subunits consist of gene families with about ten members each. In this study, we have identified and characterized the NF-Y gene families of common bean (Phaseolus vulgaris, a grain legume of worldwide economical importance and the main source of dietary protein of developing countries. Expression analysis showed that some members of each family are up-regulated at early or late stages of the nitrogen fixing symbiotic interaction with its partner Rhizobium etli. We also showed that some genes are differentially accumulated in response to inoculation with high or less efficient R. etli strains, constituting excellent candidates to participate in the strain-specific response during symbiosis. Genes of the NF-YA family exhibit a highly structured intron-exon organization. Moreover, this family is characterized by the presence of upstream ORFs when introns in the 5' UTR are retained and miRNA target sites in their 3' UTR, suggesting that these genes might be subjected to a complex post-transcriptional regulation. Multiple protein alignments indicated the presence of highly conserved domains in each of the NF-Y families, presumably involved in subunit interactions and DNA binding. The analysis presented here constitutes a starting point to understand the regulation and biological function of individual members of the NF-Y families in different developmental processes in this grain legume.

  16. Genome-wide identification, phylogeny and expression analysis of SUN, OFP and YABBY gene family in tomato.

    Science.gov (United States)

    Huang, Zejun; Van Houten, Jason; Gonzalez, Geoffrey; Xiao, Han; van der Knaap, Esther

    2013-04-01

    Members of the plant-specific gene families IQD/SUN, OFP and YABBY are thought to play important roles in plant growth and development. YABBY family members are involved in lateral organ polarity and growth; OFP members encode transcriptional repressors, whereas the role of IQD/SUN members is less clear. The tomato fruit shape genes SUN, OVATE, and FASCIATED belong to IQD/SUN, OFP and the YABBY gene family, respectively. A gene duplication resulting in high expression of SUN leads to elongated fruit, whereas a premature stop codon in OVATE and a large inversion within FASCIATED control fruit elongation and a flat fruit shape, respectively. In this study, we identified 34 SlSUN, 31 SlOFP and 9 SlYABBY genes in tomato and identified their position on 12 chromosomes. Genome mapping analysis showed that the SlSUN, SlOFP, and SlYABBY genes were enriched on the top and bottom segments of several chromosomes. In particular, on chromosome 10, a cluster of SlOFPs were found to originate from tandem duplication events. We also constructed three phylogenetic trees based on the protein sequences of the IQ67, OVATE and YABBY domains, respectively, from members of these families in Arabidopsis and tomato. The closest putative orthologs of the Arabidopsis and tomato genes were determined by the position on the phylogenetic tree and sequence similarity. Furthermore, expression analysis showed that some family members exhibited tissue-specific expression, whereas others were more ubiquitously expressed. Also, certain family members overlapped with known QTLs controlling fruit shape in Solanaceous plants. Combined, these results may help elucidate the roles of SUN, OFP and YABBY family members in plant growth and development.

  17. [Genome-wide identification, phylogenetic analysis and expression profiling of the WOX family genes in Solanum lycopersicum].

    Science.gov (United States)

    Li, Xiao-xu; Liu, Cheng; Li, Wei; Zhang, Zeng-lin; Gao, Xiao-ming; Zhou, Hui; Guo, Yong-feng

    2016-05-01

    Members of the plant-specific WOX transcription factor family have been reported to play important roles in cell to cell communication as well as other physiological and developmental processes. In this study, ten members of the WOX transcription factor family were identified in Solanum lycopersicum with HMMER. Neighbor-joining phylogenetic tree, maximum-likelihood tree and Bayesian-inference tree were constructed and similar topologies were shown using the protein sequences of the homeodomain. Phylogenetic study revealed that the 25 WOX family members from Arabidopsis and tomato fall into three clades and nine subfamilies. The patterns of exon-intron structures and organization of conserved domains in Arabidopsis and tomato were consistent based on the phylogenetic results. Transcriptome analysis showed that the expression patterns of SlWOXs were different in different tissue types. Gene Ontology (GO) analysis suggested that, as transcription factors, the SlWOX family members could be involved in a number of biological processes including cell to cell communication and tissue development. Our results are useful for future studies on WOX family members in tomato and other plant species.

  18. Evolution and expression analysis of the grape (Vitis vinifera L.) WRKY gene family.

    Science.gov (United States)

    Guo, Chunlei; Guo, Rongrong; Xu, Xiaozhao; Gao, Min; Li, Xiaoqin; Song, Junyang; Zheng, Yi; Wang, Xiping

    2014-04-01

    WRKY proteins comprise a large family of transcription factors that play important roles in plant defence regulatory networks, including responses to various biotic and abiotic stresses. To date, no large-scale study of WRKY genes has been undertaken in grape (Vitis vinifera L.). In this study, a total of 59 putative grape WRKY genes (VvWRKY) were identified and renamed on the basis of their respective chromosome distribution. A multiple sequence alignment analysis using all predicted grape WRKY genes coding sequences, together with those from Arabidopsis thaliana and tomato (Solanum lycopersicum), indicated that the 59 VvWRKY genes can be classified into three main groups (I-III). An evaluation of the duplication events suggested that several WRKY genes arose before the divergence of the grape and Arabidopsis lineages. Moreover, expression profiles derived from semiquantitative PCR and real-time quantitative PCR analyses showed distinct expression patterns in various tissues and in response to different treatments. Four VvWRKY genes showed a significantly higher expression in roots or leaves, 55 responded to varying degrees to at least one abiotic stress treatment, and the expression of 38 were altered following powdery mildew (Erysiphe necator) infection. Most VvWRKY genes were downregulated in response to abscisic acid or salicylic acid treatments, while the expression of a subset was upregulated by methyl jasmonate or ethylene treatments.

  19. Multiresolution analysis (discrete wavelet transform) through Daubechies family for emotion recognition in speech.

    Science.gov (United States)

    Campo, D.; Quintero, O. L.; Bastidas, M.

    2016-04-01

    We propose a study of the mathematical properties of voice as an audio signal. This work includes signals in which the channel conditions are not ideal for emotion recognition. Multiresolution analysis- discrete wavelet transform - was performed through the use of Daubechies Wavelet Family (Db1-Haar, Db6, Db8, Db10) allowing the decomposition of the initial audio signal into sets of coefficients on which a set of features was extracted and analyzed statistically in order to differentiate emotional states. ANNs proved to be a system that allows an appropriate classification of such states. This study shows that the extracted features using wavelet decomposition are enough to analyze and extract emotional content in audio signals presenting a high accuracy rate in classification of emotional states without the need to use other kinds of classical frequency-time features. Accordingly, this paper seeks to characterize mathematically the six basic emotions in humans: boredom, disgust, happiness, anxiety, anger and sadness, also included the neutrality, for a total of seven states to identify.

  20. Functional analysis of the ATP-binding cassette (ABC) transporter gene family of Tribolium castaneum.

    Science.gov (United States)

    Broehan, Gunnar; Kroeger, Tobias; Lorenzen, Marcé; Merzendorfer, Hans

    2013-01-16

    The ATP-binding cassette (ABC) transporters belong to a large superfamily of proteins that have important physiological functions in all living organisms. Most are integral membrane proteins that transport a broad spectrum of substrates across lipid membranes. In insects, ABC transporters are of special interest because of their role in insecticide resistance. We have identified 73 ABC transporter genes in the genome of T. castaneum, which group into eight subfamilies (ABCA-H). This coleopteran ABC family is significantly larger than those reported for insects in other taxonomic groups. Phylogenetic analysis revealed that this increase is due to gene expansion within a single clade of subfamily ABCC. We performed an RNA interference (RNAi) screen to study the function of ABC transporters during development. In ten cases, injection of double-stranded RNA (dsRNA) into larvae caused developmental phenotypes, which included growth arrest and localized melanization, eye pigmentation defects, abnormal cuticle formation, egg-laying and egg-hatching defects, and mortality due to abortive molting and desiccation. Some of the ABC transporters we studied in closer detail to examine their role in lipid, ecdysteroid and eye pigment transport. The results from our study provide new insights into the physiological function of ABC transporters in T. castaneum, and may help to establish new target sites for insect control.

  1. Family-based multi-SNP X chromosome analysis using parental information

    Directory of Open Access Journals (Sweden)

    Alison S. Wise

    2016-02-01

    Full Text Available We propose a method for association analysis of haplotypes on the X chromosome that offers both improved power and robustness to population stratification in studies of affected offspring and their parents if all three have been genotyped. The method makes use of assumed parental haplotype exchangeability, a weaker assumption than Hardy-Weinberg equilibrium. Parental haplotype exchangeability requires that in the source population, of the three X chromosome haplotypes carried by the two parents, each is equally likely to be carried by the father. We propose a pseudo-sibling approach that exploits that exchangeability assumption. Our method extends the single-SNP PIX-LRT method to multiple SNPs in a high linkage block. We describe methods for testing the parental haplotype exchangeability assumption and also for determining how apparent violations can be distinguished from true fetal effects or maternally-mediated effects. We show results of simulations that demonstrate nominal type I error rate and good power. The methods are then applied to dbGaP data on the birth defect oral cleft, using both Asian and Caucasian families with cleft.

  2. National program for family planning and primary health care Pakistan: a SWOT analysis.

    Science.gov (United States)

    Wazir, Mohammad Salim; Shaikh, Babar Tasneem; Ahmed, Ashfaq

    2013-11-22

    The National Program for Family Planning and Primary Healthcare was launched in 1994. It is one of the largest community based programs in the world, providing primary healthcare services to about 80 million people, most of which is rural poor. The program has been instrumental in improving health related indicators of maternal and child health in the last two decades. SWOT analysis was used by making recourse to the structure and dynamics of the program as well as searching the literature. Strengths of the program include: comprehensive design of planning, implementation and supervision mechanisms aided by an MIS, selection and recruitments processes and evidence created through improving health impact indicators. Weaknesses identified are slow progress, poor integration of the program with health services at local levels including MIS, and de-motivational factors such as job insecurity and non-payment of salaries in time. Opportunities include further widening the coverage of services, its potential contribution to health system research, and its use in areas other than health like women empowerment and poverty alleviation. Threats the program may face are: political interference, lack of funds, social threats and implications for professional malpractices. Strengthening of the program will necessitate a strong political commitment, sustained funding and a just remuneration to this bare foot doctor of Pakistan, the Lady Health Worker.

  3. Comprehensive identification and expression analysis of Hsp90s gene family in Solanum lycopersicum.

    Science.gov (United States)

    Zai, W S; Miao, L X; Xiong, Z L; Zhang, H L; Ma, Y R; Li, Y L; Chen, Y B; Ye, S G

    2015-07-14

    Heat shock protein 90 (Hsp90) is a protein produced by plants in response to adverse environmental stresses. In this study, we identified and analyzed Hsp90 gene family members using a bioinformatic method based on genomic data from tomato (Solanum lycopersicum L.). The results illustrated that tomato contains at least 7 Hsp90 genes distributed on 6 chromosomes; protein lengths ranged from 267-794 amino acids. Intron numbers ranged from 2-19 in the genes. The phylogenetic tree revealed that Hsp90 genes in tomato (Solanum lycopersicum L.), rice (Oryza sativa L.), and Arabidopsis (Arabidopsis thaliana L.) could be divided into 5 groups, which included 3 pairs of orthologous genes and 4 pairs of paralogous genes. Expression analysis of RNA-sequence data showed that the Hsp90-1 gene was specifically expressed in mature fruits, while Hsp90-5 and Hsp90-6 showed opposite expression patterns in various tissues of cultivated and wild tomatoes. The expression levels of the Hsp90-1, Hsp90-2, and Hsp90- 3 genes in various tissues of cultivated tomatoes were high, while both the expression levels of genes Hsp90-3 and Hsp90-4 were low. Additionally, quantitative real-time polymerase chain reaction showed that these genes were involved in the responses to yellow leaf curl virus in tomato plant leaves. Our results provide a foundation for identifying the function of the Hsp90 gene in tomato.

  4. A Critical Discourse Analysis of Family and Friends Textbooks: Representation of Genderism

    Directory of Open Access Journals (Sweden)

    Saeed Esmaeili

    2015-07-01

    Full Text Available The present study employed a Critical Discourse Analysis (CDA approach to investigate the linguistic representation of male and female social actors in Family and Friends 4, 5 and 6. To this end, van Leeuwen’s (1996 representational framework and Halliday and Matthiessen’s (2004 Transitivity Theory Model were adopted to reveal the ideology behind the constructions. The findings indicated a “sexist attitude” in favor of male social actors in which males were portrayed more than females and also had high activity. In addition, it was revealed that there was attempt to avoid traditional stereotypes of females in most parts of textbooks and women were not portrayed at home as housewives engaged in child care, however, it can be claimed that they suffered most obviously from low visibility. The findings may help EFL teachers, material developers and policy makers to be aware of equality/inequality issues in textbooks in order to make an equality perspective to learners.

  5. Assessing the Local Need for Family and Child Care Services: A Small Area Utilization Analysis.

    Science.gov (United States)

    Percy, Andrew; Carr-Hill, Roy; Dixon, Paul; Jamison, James Q.

    2000-01-01

    Describes study of administrative data from Northern Ireland on the costs of family and child care services, using small area utilization modeling, to derive a new set of needs indicators that could be used within the family and child care capitation funding formula. Argues that small area utilization modeling produces a fairer and more equitable…

  6. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches

    NARCIS (Netherlands)

    Preising, Markus N.; Forster, Hedwig; Tan, H.; Lorenz, Birgit; de Jong, Paulus T. V. M.; Plomp, Astrid S.

    2007-01-01

    To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The

  7. Provision of family planning services in Tanzania: a comparative analysis of public and private facilities

    NARCIS (Netherlands)

    Kakoko, D.C.; Ketting, E.; Kamazima, S.R.; Ruben, R.

    2012-01-01

    Adherence to the policy guidelines and standards is necessary for family planning services. We compared public and private facilities in terms of provision of family planning services. We analyzed data from health facility questionnaire of the 2006 Tanzania Service Provision Assessment survey, based

  8. A Structural Equation Analysis of Family Accommodation in Pediatric Obsessive-Compulsive Disorder

    Science.gov (United States)

    Caporino, Nicole E.; Morgan, Jessica; Beckstead, Jason; Phares, Vicky; Murphy, Tanya K.; Storch, Eric A.

    2012-01-01

    Family accommodation of symptoms is counter to the primary goals of cognitive-behavioral therapy for pediatric obsessive-compulsive disorder (OCD) and can pose an obstacle to positive treatment outcomes. Although increased attention has been given to family accommodation in pediatric OCD, relatively little is known about associated child and…

  9. The starch-binding domain family CBM41 - an in silico analysis of evolutionary relationships

    DEFF Research Database (Denmark)

    Janeček, Štefan; Majzlová, Katarína; Svensson, Birte

    2017-01-01

    Within the CAZy database, there are 81 carbohydrate-binding module (CBM) families. A CBM represents a non-catalytic domain in a modular arrangement of glycoside hydrolases (GHs). The present in silico study has been focused on starch-binding domains from the family CBM41 that are usually part...

  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

    2011-01-01

    a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein...

  11. A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

    DEFF Research Database (Denmark)

    Mesher, David; Dove-Edwin, Isis; Sasieni, Peter

    2014-01-01

    Surveillance guidelines for the management of familial colorectal cancer (FCC), a dominant family history of colorectal cancer in which the polyposis syndromes and Lynch syndrome have been excluded, are not firmly established. The outcome of colonoscopic surveillance is studied using data from six...

  12. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

    NARCIS (Netherlands)

    Avila-Fernandez, A.; Cantalapiedra, D.; Aller, E.; Vallespin, E.; Aguirre-Lamban, J.; Blanco-Kelly, F.; Corton, M.; Riveiro-Alvarez, R.; Allikmets, R.; Trujillo-Tiebas, M.J.; Millan, J.M.; Cremers, F.P.M.; Ayuso, C.

    2010-01-01

    PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray. METHODS: 272 unrelated Spanish families, 107 with autosomal

  13. Service Use and Satisfaction Following Acquired Brain Injury: A Preliminary Analysis of Family Caregiver Outcomes

    Science.gov (United States)

    Degeneffe, Charles Edmund; Green, Richard; Jones, Clair

    2016-01-01

    Purpose: The study aimed to understand how use and satisfaction with services following discharge from an acquired brain injury (ABI) acute-care facility related to family caregiver outcomes. Methods: A correlational and descriptive study design was used. Nineteen primary family caregivers of persons recently discharged from an ABI acute-care…

  14. A Comparative Analysis of Family Adaptability and Cohesion Ratings among Traumatized Urban Youth

    Science.gov (United States)

    Bellantuono, Alessandro; Saigh, Philip A.; Durham, Katherine; Dekis, Constance; Hackler, Dusty; McGuire, Leah A.; Yasik, Anastasia E.; Halamandaris, Phill V.; Oberfield, Richard A.

    2018-01-01

    Objective: Given the need to identify psychological risk factors among traumatized youth, this study examined the family functioning of traumatized youth with or without PTSD and a nonclinical sample. Method: The Family Adaptability and Cohesion Evaluation Scales, second edition (FACES II; Olson, Portner, & Bell, 1982), scores of youth with…

  15. Self-construal, mental distress, and family relations: a mediated moderation analysis with Asian American adolescents.

    Science.gov (United States)

    Liu, Freda F; Goto, Sharon G

    2007-04-01

    The interactive effects between interdependent and independent self-construal on family cohesion and mental distress were examined. Survey responses from 153 Asian American high school students supported the hypothesized moderation of interdependence by independence on family cohesion, which was found to further mediate the relationship between self-construal and mental distress. Specifically, interdependence was positively associated with family cohesion when independence was high and negatively associated with family cohesion when independence was low. Accounting for the mediator effects of family cohesion, mental distress was positively associated with interdependence and more so for those low on independence than those high on independence. The benefits of biculturalism and research implications for the bidimensional conceptualization of self-construal for ethnic minority populations are discussed. (c) 2007 APA, all rights reserved.

  16. Positioning Analysis of Filipino Family Narratives in the Context of Prisoner Reintegration

    Directory of Open Access Journals (Sweden)

    Donald Jay Bertulfo

    2016-11-01

    Full Text Available Prisoner reintegration may be viewed as a crisis situation that may lead to a period of instability within the family. Existing researches in this area remain focused on the individual perspective of ex-offenders rather than the experiences of receiving families back in their households. In this study, we aim to examine the reintegration experiences of the family as a group from an initial state of chaos to equilibrium upon the reentry of an incarcerated parent. Using a sample of 12 interviews of family members left behind by incarcerated fathers, three major storylines relating to the family’s struggle for moral re-ascendancy in the context of parental reintegration are identified: othering, rehabilitation, and restoration. We explain the interlocking emotional, discursive, and material forms of labor embedded in the process of prisoner reintegration. Policy implications on social and institutional aid to the families of reintegrating fathers are also discussed.

  17. Transcriptional Regulatory Network Analysis of MYB Transcription Factor Family Genes in Rice

    Directory of Open Access Journals (Sweden)

    Shuchi eSmita

    2015-12-01

    Full Text Available MYB transcription factor (TF is one of the largest TF families and regulates defense responses to various stresses, hormone signaling as well as many metabolic and developmental processes in plants. Understanding these regulatory hierarchies of gene expression networks in response to developmental and environmental cues is a major challenge due to the complex interactions between the genetic elements. Correlation analyses are useful to unravel co-regulated gene pairs governing biological process as well as identification of new candidate hub genes in response to these complex processes. High throughput expression profiling data are highly useful for construction of co-expression networks. In the present study, we utilized transcriptome data for comprehensive regulatory network studies of MYB TFs by top down and guide gene approaches. More than 50% of OsMYBs were strongly correlated under fifty experimental conditions with 51 hub genes via top down approach. Further, clusters were identified using Markov Clustering (MCL. To maximize the clustering performance, parameter evaluation of the MCL inflation score (I was performed in terms of enriched GO categories by measuring F-score. Comparison of co-expressed cluster and clads analyzed from phylogenetic analysis signifies their evolutionarily conserved co-regulatory role. We utilized compendium of known interaction and biological role with Gene Ontology enrichment analysis to hypothesize function of coexpressed OsMYBs. In the other part, the transcriptional regulatory network analysis by guide gene approach revealed 40 putative targets of 26 OsMYB TF hubs with high correlation value utilizing 815 microarray data. The putative targets with MYB-binding cis-elements enrichment in their promoter region, functional co-occurrence as well as nuclear localization supports our finding. Specially, enrichment of MYB binding regions involved in drought-inducibility implying their regulatory role in drought

  18. Work and family roles of Soviet women: historical trends and cross-section analysis.

    Science.gov (United States)

    Ofer, G; Vinokur, A

    1985-01-01

    Changes in the way of life of USSR women over the last 2 generations are very similar to those experienced by women in most industrialized and industializing societies. The rate of participation of women in the labor force increased substantially, and this movement was accompanied by a marked rise in the level of women's general and professional education. As a result, women occupy more white collar positions than they did in older generations, but these developments have created a double burden for most women who complain that increased resonsibilities outside the home have not been synchronized with an adequate increase in men's sharing household responsibilities. Historical explanations for changes in women's role particularly emphasize the nature of relationships between participation, wages, incomes, fertility, education and labor market conditions. The long term changes of these major variables, since the 1920s, along with an investigation based on an income survey of 1000 immigrant families, are studied in this paper. Cross sectional analysis examines a longer life cycle, participation decisions, and relates them to decisions on fertility and education. Fertility rates among the Jewish immigrants are much higher and labor participation rates of women much lower than for the rest of the population. Some of the main features of the long trends since 1926 are: 1) of the overall measures of participation of women, only those in the 15-54 and 20-54 age ranges show some increase over the 1926-1980 period, 2) sharp rises in specific participation rates for 25-44 and 45-54 age groups since 1950, and for urban women overall, 3) only a small fraction of the total increase in participation can be attributed to the increase in the proportion of single women, and 4) by 1980 the overall female participation figure rose to 80%--and 88% for the 20-54 age group--the difference reflecting the sharp decline in 15-19 age group participation. While the short run decision about

  19. Types of analysis of trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry

    Directory of Open Access Journals (Sweden)

    Vanderlei dos Santos

    2010-01-01

    Full Text Available The study aims to identify the types of analysis of Trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry. Descriptive research was performed, with quantitative and qualitative approach, using a multiple case study. Data were collected through interviews with the controller of the companies. In the four basic culture types suggested by Trompenaars (1994, it is concluded that there isn´t a pure kind, but there is a strong presence of family culture among the companies surveyed in dimensions relationship between employees, attitude in relation to the ways of change, forms of motivation and reward

  20. Determinants of unmet need for family planning in rural Burkina Faso: a multilevel logistic regression analysis.

    Science.gov (United States)

    Wulifan, Joseph K; Jahn, Albrecht; Hien, Hervé; Ilboudo, Patrick Christian; Meda, Nicolas; Robyn, Paul Jacob; Saidou Hamadou, T; Haidara, Ousmane; De Allegri, Manuela

    2017-12-19

    Unmet need for family planning has implications for women and their families, such as unsafe abortion, physical abuse, and poor maternal health. Contraceptive knowledge has increased across low-income settings, yet unmet need remains high with little information on the factors explaining it. This study assessed factors associated with unmet need among pregnant women in rural Burkina Faso. We collected data on pregnant women through a population-based survey conducted in 24 rural districts between October 2013 and March 2014. Multivariate multilevel logistic regression was used to assess the association between unmet need for family planning and a selection of relevant demand- and supply-side factors. Of the 1309 pregnant women covered in the survey, 239 (18.26%) reported experiencing unmet need for family planning. Pregnant women with more than three living children [OR = 1.80; 95% CI (1.11-2.91)], those with a child younger than 1 year [OR = 1.75; 95% CI (1.04-2.97)], pregnant women whose partners disapproves contraceptive use [OR = 1.51; 95% CI (1.03-2.21)] and women who desired fewer children compared to their partners preferred number of children [OR = 1.907; 95% CI (1.361-2.672)] were significantly more likely to experience unmet need for family planning, while health staff training in family planning logistics management (OR = 0.46; 95% CI (0.24-0.73)] was associated with a lower probability of experiencing unmet need for family planning. Findings suggest the need to strengthen family planning interventions in Burkina Faso to ensure greater uptake of contraceptive use and thus reduce unmet need for family planning.

  1. A family of stadium-like billiards with parabolic boundaries under scaling analysis

    International Nuclear Information System (INIS)

    Livorati, Andre L P; Loskutov, Alexander; Leonel, Edson D

    2011-01-01

    Some chaotic properties of a family of stadium-like billiards with parabolic focusing components, which is described by a two-dimensional nonlinear area-preserving map, are studied. Critical values of billiard geometric parameters corresponding to a sudden change of the maximal Lyapunov exponent are found. It is shown that the maximal Lyapunov exponent obtained for chaotic orbits of this family is scaling invariant with respect to the control parameters describing the geometry of the billiard. We also show that this behavior is observed for a generic one-parameter family of mapping with the nonlinearity given by a tangent function.

  2. Family history assessment for colorectal cancer (CRC) risk analysis - comparison of diagram- and questionnaire-based web interfaces.

    Science.gov (United States)

    Schultz, Michael; Seo, Steven Bohwan; Holt, Alec; Regenbrecht, Holger

    2015-11-18

    Colorectal cancer (CRC) has a high incidence, especially in New Zealand. The reasons for this are unknown. While most cancers develop sporadically, a positive family history, determined by the number and age at diagnosis of affected first and second degree relatives with CRC is one of the major factors, which may increase an individual's lifetime risk. Before a patient can be enrolled in a surveillance program a detailed assessment and documentation of the family history is important but time consuming and often inaccurate. The documentation is usually paper-based. Our aim was therefore to develop and validate the usability and efficacy of a web-based family history assessment tool for CRC suitable for the general population. The tool was also to calculate the risk and make a recommendation for surveillance. Two versions of an electronic assessment tool, diagram-based and questionnaire-based, were developed with the risk analysis and recommendations for surveillance based on the New Zealand Guidelines Group recommendations. Accuracy of our tool was tested prior to the study by comparing risk calculations based on family history by experienced gastroenterologists with the electronic assessment. The general public, visiting a local science fair were asked to use and comment on the usability of the two interfaces. Ninety people assessed and commented on the two interfaces. Both interfaces were effective in assessing the risk to develop CRC through their familial history for CRC. However, the questionnaire-based interface performed with significantly better satisfaction (p = 0.001) than the diagram-based interface. There was no difference in efficacy though. We conclude that a web-based questionnaire tool can assist in the accurate documentation and analysis of the family history relevant to determine the individual risk of CRC based on local guidelines. The calculator is now implemented and assessable through the web-page of a local charity for colorectal cancer

  3. Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

    Directory of Open Access Journals (Sweden)

    Srivastava Satish

    2003-07-01

    Full Text Available Abstract Background PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the amino-terminus of protein substrates and mainly plays an immune and inflammatory role. Several mutations have been reported in this gene in patients from several ethnic groups. We report here mutation analysis of the CTSC gene in three Indian families with PLS. Methods Peripheral blood samples were obtained from individuals belonging to three Indian families with PLS for genomic DNA isolation. Exon-specific intronic primers were used to amplify DNA samples from individuals. PCR products were subsequently sequenced to detect mutations. PCR-SCCP and ASOH analyses were used to determine if mutations were present in normal control individuals. Results All patients from three families had a classic PLS phenotype, which included palmoplantar keratosis and early-onset severe periodontitis. Sequence analysis of the CTSC gene showed three novel nonsense mutations (viz., p.Q49X, p.Q69X and p.Y304X in homozygous state in affected individuals from these Indian families. Conclusions This study reported three novel nonsense mutations in three Indian families. These novel nonsense mutations are predicted to produce truncated dipeptidyl-peptidase I causing PLS phenotype in these families. A review of the literature along with three novel mutations reported here showed that the total number of mutations in the CTSC gene described to date is 41 with 17 mutations being located in exon 7.

  4. UV, VISIBLE AND NIR SPECTRAL ANALYSIS OF EGGSHELLS IN THE CHARADRIIDAE FAMILY OF BIRDS

    Science.gov (United States)

    We employed reflectance spectrophotometry to quantify color and mineral composition of eggshells from several species of the bird family Charadriidae to characterize species physiology and to distinguish nesting habitat preferences. We used a Shimadzu spectrophotometer to measur...

  5. Do family dinners reduce the risk for early adolescent substance use? A propensity score analysis.

    Science.gov (United States)

    Hoffmann, John P; Warnick, Elizabeth

    2013-01-01

    The risks of early adolescent substance use on health and well-being are well documented. In recent years, several experts have claimed that a simple preventive measure for these behaviors is for families to share evening meals. In this study, we use data from the 1997 National Longitudinal Study of Youth (n = 5,419) to estimate propensity score models designed to match on a set of covariates and predict early adolescent substance use frequency and initiation. The results indicate that family dinners are not generally associated with alcohol or cigarette use or with drug use initiation. However, a continuous measure of family dinners is modestly associated with marijuana frequency, thus suggesting a potential causal impact. These results show that family dinners may help prevent one form of substance use in the short term but do not generally affect substance use initiation or alcohol and cigarette use.

  6. Cross-National Estimates of the Effects of Family Background on Student Achievement: A Sensitivity Analysis

    Science.gov (United States)

    Nonoyama-Tarumi, Yuko

    2008-01-01

    This article uses the data from the Programme for International Student Assessment (PISA) 2000 to examine whether the influence of family background on educational achievement is sensitive to different measures of the family's socio-economic status (SES). The study finds that, when a multidimensional measure of SES is used, the family background has a stronger influence on achievement across countries than if the simpler measure of SES is used. The new measure, which incorporated aspects of parental occupation, education and cultural resources, was not biased towards more wealthy nations, Western nations, or urban population. However, when a proxy of wealth was included in the measure of SES, this reduced the other measured effects of family background on achievement in many countries.

  7. Genomewide analysis of MATE-type gene family in maize reveals ...

    Indian Academy of Sciences (India)

    Huasheng Zhu and Jiandong Wu contributed equally to this work. As a group of secondary active transporters, the MATE gene family consists of multiple genes that widely exist in ..... Roots of the stress-treated plants were collected at 0,.

  8. The Alcohol Dehydrogenase Gene Family in Melon (Cucumis melo L.: Bioinformatic Analysis and Expression Patterns

    Directory of Open Access Journals (Sweden)

    Yazhong eJin

    2016-05-01

    Full Text Available Alcohol dehydrogenases (ADH, encoded by multigene family in plants, play a critical role in plant growth, development, adaptation, fruit ripening and aroma production. Thirteen ADH genes were identified in melon genome, including 12 ADHs and one formaldehyde dehydrogenease (FDH, designated CmADH1-12 and CmFDH1, in which CmADH1 and CmADH2 have been isolated in Cantaloupe. ADH genes shared a lower identity with each other at the protein level and had different intron-exon structure at nucleotide level. No typical signal peptides were found in all CmADHs, and CmADH proteins might locate in the cytoplasm. The phylogenetic tree revealed that 13 ADH genes were divided into 3 groups respectively, namely long-, medium- and short-chain ADH subfamily, and CmADH1,3-11, which belongs to the medium-chain ADH subfamily, fell into 6 medium-chain ADH subgroups. CmADH12 may belong to the long-chain ADH subfamily, while CmFDH1 may be a Class III ADH and serve as an ancestral ADH in melon. Expression profiling revealed that CmADH1, CmADH2, CmADH10 and CmFDH1 were moderately or strongly expressed in different vegetative tissues and fruit at medium and late developmental stages, while CmADH8 and CmADH12 were highly expressed in fruit after 20 days. CmADH3 showed preferential expression in young tissues. CmADH4 only had slight expression in root. Promoter analysis revealed several motifs of CmADH genes involved in the gene expression modulated by various hormones, and the response pattern of CmADH genes to ABA, IAA and ethylene were different. These CmADHs were divided into ethylene-sensitive and –insensitive groups, and the functions of CmADHs were discussed.

  9. Comparative Mitogenomic Analysis of Species Representing Six Subfamilies in the Family Tenebrionidae

    Directory of Open Access Journals (Sweden)

    Hong-Li Zhang

    2016-05-01

    Full Text Available To better understand the architecture and evolution of the mitochondrial genome (mitogenome, mitogenomes of ten specimens representing six subfamilies in Tenebrionidae were selected, and comparative analysis of these mitogenomes was carried out in this study. Ten mitogenomes in this family share a similar gene composition, gene order, nucleotide composition, and codon usage. In addition, our results show that nucleotide bias was strongly influenced by the preference of codon usage for A/T rich codons which significantly correlated with the G + C content of protein coding genes (PCGs. Evolutionary rate analyses reveal that all PCGs have been subjected to a purifying selection, whereas 13 PCGs displayed different evolution rates, among which ATPase subunit 8 (ATP8 showed the highest evolutionary rate. We inferred the secondary structure for all RNA genes of Tenebrio molitor (Te2 and used this as the basis for comparison with the same genes from other Tenebrionidae mitogenomes. Some conserved helices (stems and loops of RNA structures were found in different domains of ribosomal RNAs (rRNAs and the cloverleaf structure of transfer RNAs (tRNAs. With regard to the AT-rich region, we analyzed tandem repeat sequences located in this region and identified some essential elements including T stretches, the consensus motif at the flanking regions of T stretch, and the secondary structure formed by the motif at the 3′ end of T stretch in major strand, which are highly conserved in these species. Furthermore, phylogenetic analyses using mitogenomic data strongly support the relationships among six subfamilies: ((Tenebrionidae incertae sedis + (Diaperinae + Tenebrioninae + (Pimeliinae + Lagriinae, which is consistent with phylogenetic results based on morphological traits.

  10. Genome-wide analysis of WRKY gene family in Cucumis sativus.

    Science.gov (United States)

    Ling, Jian; Jiang, Weijie; Zhang, Ying; Yu, Hongjun; Mao, Zhenchuan; Gu, Xingfang; Huang, Sanwen; Xie, Bingyan

    2011-09-28

    WRKY proteins are a large family of transcriptional regulators in higher plant. They are involved in many biological processes, such as plant development, metabolism, and responses to biotic and abiotic stresses. Prior to the present study, only one full-length cucumber WRKY protein had been reported. The recent publication of the draft genome sequence of cucumber allowed us to conduct a genome-wide search for cucumber WRKY proteins, and to compare these positively identified proteins with their homologs in model plants, such as Arabidopsis. We identified a total of 55 WRKY genes in the cucumber genome. According to structural features of their encoded proteins, the cucumber WRKY (CsWRKY) genes were classified into three groups (group 1-3). Analysis of expression profiles of CsWRKY genes indicated that 48 WRKY genes display differential expression either in their transcript abundance or in their expression patterns under normal growth conditions, and 23 WRKY genes were differentially expressed in response to at least one abiotic stresses (cold, drought or salinity). The expression profile of stress-inducible CsWRKY genes were correlated with those of their putative Arabidopsis WRKY (AtWRKY) orthologs, except for the group 3 WRKY genes. Interestingly, duplicated group 3 AtWRKY genes appear to have been under positive selection pressure during evolution. In contrast, there was no evidence of recent gene duplication or positive selection pressure among CsWRKY group 3 genes, which may have led to the expressional divergence of group 3 orthologs. Fifty-five WRKY genes were identified in cucumber and the structure of their encoded proteins, their expression, and their evolution were examined. Considering that there has been extensive expansion of group 3 WRKY genes in angiosperms, the occurrence of different evolutionary events could explain the functional divergence of these genes.

  11. Genome-wide analysis of the MYB gene family in physic nut (Jatropha curcas L.).

    Science.gov (United States)

    Zhou, Changpin; Chen, Yanbo; Wu, Zhenying; Lu, Wenjia; Han, Jinli; Wu, Pingzhi; Chen, Yaping; Li, Meiru; Jiang, Huawu; Wu, Guojiang

    2015-11-01

    The MYB proteins comprise one of the largest transcription factor families in plants, and play key roles in regulatory networks controlling development, metabolism, and stress responses. A total of 125 MYB genes (JcMYB) have been identified in the physic nut (Jatropha curcas L.) genome, including 120 2R-type MYB, 4 3R-MYB, and 1 4R-MYB genes. Based on exon-intron arrangement of MYBs from both lower (Physcomitrella patens) and higher (physic nut, Arabidopsis, and rice) plants, we can classify plant MYB genes into ten groups (MI-X), except for MIX genes which are nonexistent in higher plants. We also observed that MVIII genes may be one of the most ancient MYB types which consist of both R2R3- and 3R-MYB genes. Most MYB genes (76.8% in physic nut) belong to the MI group which can be divided into 34 subgroups. The JcMYB genes were nonrandomly distributed on its 11 linkage groups (LGs). The expansion of MYB genes across several subgroups was observed and resulted from genome triplication of ancient dicotyledons and from both ancient and recent tandem duplication events in the physic nut genome. The expression patterns of several MYB duplicates in the physic nut showed differences in four tissues (root, stem, leaf, and seed), and 34 MYB genes responded to at least one abiotic stressor (drought, salinity, phosphate starvation, and nitrogen starvation) in leaves and/or roots based on the data analysis of digital gene expression tags. Overexpression of the JcMYB001 gene in Arabidopsis increased its sensitivity to drought and salinity stresses. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Factors affecting the performance of family planning workers: importance of geographical information systems in empirical analysis.

    Science.gov (United States)

    Ali, M; De Francisco, A; Khan, M M; Chakraborty, J; Myaux, J

    1999-01-01

    Substantial variation in contraceptive prevalence rates (CPRs) and fertility rates (FRs) between community health workers (CHWs) has been documented since the inception of the Matlab family planning program in rural Bangladesh. The coefficients of variation of these indicators for Matlab CHWs were 7% and 26%, respectively, in 1995. To identify the reasons for these performance variations, geographical information system (GIS) approaches were applied to longitudinal and cross-sectional data on 80 CHWs for the period 1980-95. Each observation in the data-set included catchment area-specific characteristics, measures of CHW efficiency in service delivery, and CHW-specific characteristics for one specific year. A one-unit increase in the average age of target women in the catchment area increases the CPR by 9.2%. The CPR increases by 0.2% for each 1% increase in women's literacy and decreases by 0.1% for each 1% increase in the number of Muslim households in the catchment area. An increase of 1 sq. km in the size of the catchment area reduces the CPR by 3%. CHW performance increases with age up to 45 years and then decreases. Similarly, a 1-year increase in the average age of target women reduces the FR by 2%. A 10% increase in the size of the catchment area reduces program performance by increasing the FR by 1.4%. A single geographic barrier to movement increases the FR by 1%. This analysis indicates that CHW performance can be improved significantly by defining catchment areas through use of GIS techniques. Without knowledge of the spatial distribution of population and the physical barriers to movement, allocating a fixed number of clients per CHW may not be the most efficient approach.

  13. In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

    Science.gov (United States)

    Neocleous, Vassos; Shammas, Christos; Phelan, Marie M; Nicolaou, Stella; Phylactou, Leonidas A; Skordis, Nicos

    2016-01-01

    The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or from loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency. To explore the genetic causes responsible for CPP and the potential role of the RING finger protein 3 (MKRN3) gene. We investigated potential sequence variations in the intronless MKRN3 gene by Sanger sequencing of the entire 507 amino acid coding region of exon 1 in a family with two affected girls presented with CPP at the age of 6 and 5·7 years, respectively. A novel heterozygous g.Gly312Asp missense mutation in the MKRN3 gene was identified in these siblings. The imprinted MKRN3 missense mutation was also identified as expected in the unaffected father and followed as expected an imprinted mode of inheritance. In silico analysis of the altered missense variant using the computational algorithms Polyphen2, SIFT and Mutation Taster predicted a damage and pathogenic alteration causing CPP. The pathogenicity of the alteration at the protein level via an in silico structural model is also explored. A novel mutation in the MKRN3 gene in two sisters with CPP was identified, supporting the fundamental role of this gene in the suppression of the hypothalamic GnRH neurons. © 2015 John Wiley & Sons Ltd.

  14. The Aboriginal Australian Family Wellbeing Program: A Historical Analysis of the Conditions That Enabled Its Spread

    Directory of Open Access Journals (Sweden)

    Janya McCalman

    2018-03-01

    Full Text Available IntroductionSpreading proven or promising Aboriginal health programs and implementing them in new settings can make cost-effective contributions to a range of Aboriginal Australian development, health and wellbeing, and educational outcomes. Studies have theorized the implementation of Aboriginal health programs but have not focused explicitly on the conditions that influenced their spread. This study examined the broader political, institutional, social and economic conditions that influenced negotiations to transfer, implement, adapt, and sustain one Aboriginal empowerment program—the Family Wellbeing (FWB program—to at least 60 geographical sites across Australia over 24 years.Materials and methodsA historical account of the spread of the FWB Program was constructed using situational analysis, a theory-methods package derived from a poststructural interpretation of grounded theory methods. Data were collected from published empirical articles, evaluation reports and project articles, and interviews with 18 key actors in the spread of FWB. Social worlds and arenas maps were used to determine the organizations and their representative agents who were involved in FWB spread and to analyze the enabling and constraining conditions.ResultsThe program was transferred through three interwoven social arenas: employment and community development; training and capacity development; and social and emotional wellbeing promotion and empowerment research. Program spread was fostered by three primary conditions: government policies and the availability and Aboriginal control of funding and support; Aboriginal leadership, associated informal networks and capability; and research evidence that built credibility for the program.Discussion and conclusionThe continued demand-driven transfer of empowerment programs requires policies that enable Aboriginal control of funding and Aboriginal leadership and networks. Flexible and sustained coordination of

  15. Family Wide Molecular Adaptations to Underground Life in African Mole-Rats Revealed by Phylogenomic Analysis.

    Science.gov (United States)

    Davies, Kalina T J; Bennett, Nigel C; Tsagkogeorga, Georgia; Rossiter, Stephen J; Faulkes, Christopher G

    2015-12-01

    During their evolutionary radiation, mammals have colonized diverse habitats. Arguably the subterranean niche is the most inhospitable of these, characterized by reduced oxygen, elevated carbon dioxide, absence of light, scarcity of food, and a substrate that is energetically costly to burrow through. Of all lineages to have transitioned to a subterranean niche, African mole-rats are one of the most successful. Much of their ecological success can be attributed to a diet of plant storage organs, which has allowed them to colonize climatically varied habitats across sub-Saharan Africa, and has probably contributed to the evolution of their diverse social systems. Yet despite their many remarkable phenotypic specializations, little is known about molecular adaptations underlying these traits. To address this, we sequenced the transcriptomes of seven mole-rat taxa, including three solitary species, and combined new sequences with existing genomic data sets. Alignments of more than 13,000 protein-coding genes encompassed, for the first time, all six genera and the full spectrum of ecological and social variation in the clade. We detected positive selection within the mole-rat clade and along ancestral branches in approximately 700 genes including loci associated with tumorigenesis, aging, morphological development, and sociality. By combining these results with gene ontology annotation and protein-protein networks, we identified several clusters of functionally related genes. This family wide analysis of molecular evolution in mole-rats has identified a suite of positively selected genes, deepening our understanding of the extreme phenotypic traits exhibited by this group. © The Author 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  16. Human capital in family businesses: an exploratory analysis in Spanish firms

    Directory of Open Access Journals (Sweden)

    Antonio José Carrasco Hernández

    2014-07-01

    Full Text Available The purpose of this paper is to analyze how family firms identify, develop and protect their human capital. From an exploratoryperspective based on the resource-based view, the key human resource practices are examined in a sample of 433Spanish companies. Specifically, we examine the orientation and idiosyncrasies that family firms confer to the selection andpromotion mechanism, to the training and developing practices, to the design of compensation and executive paymentsand, finally, to the process of succession

  17. Family Food Security and Children’s Environment: A Comprehensive Analysis with Structural Equation Modeling

    OpenAIRE

    Che Wan Jasimah bt Wan Mohamed Radzi; Huang Hui; Nur Anisah Binti Mohamed @ A. Rahman; Hashem Salarzadeh Jenatabadi

    2017-01-01

    Structural Equation Modeling (SEM) has been used extensively in sustainability studies to model relationships among latent and manifest variables. This paper provides a tutorial exposition of the SEM approach in food security studies and introduces a basic framework based on family food security and children’s environment sustainability. This framework includes family food security and three main concepts representing children’s environment, including children’s BMI, health, and school perfor...

  18. An empirical analysis of the impact of family moral support on Turkish women entrepreneurs

    OpenAIRE

    Welsh, Dianne H.B.; Memili, Esra; Kaciak, Eugene

    2016-01-01

    It is well documented that women entrepreneurs add exponential growth to the economic well-being of countries. The impact of family moral support on Turkish women entrepreneurs’ is examined including major challenges (i.e. personal problems and recognition of poor managerial skills and knowledge) and advantages (i.e. perceptions of helpfulness of education and work experience). Our findings show that family moral support can have both positive and negative impact on Turkish women entrepreneur...

  19. Perspectives of family medicine physicians on the importance of adolescent preventive care: a multivariate analysis.

    Science.gov (United States)

    Taylor, Jaime L; Aalsma, Matthew C; Gilbert, Amy L; Hensel, Devon J; Rickert, Vaughn I

    2016-01-20

    The study objective was to identify commonalities amongst family medicine physicians who endorse annual adolescent visits. A nationally weighted representative on-line survey was used to explore pediatrician (N = 204) and family medicine physicians (N = 221) beliefs and behaviors surrounding adolescent wellness. Our primary outcome was endorsement that adolescents should receive annual preventive care visits. Pediatricians were significantly more likely (p family medicine physicians, bivariate comparisons were conducted between those who endorsed an annual visit (N = 164) compared to those who did not (N = 57) with significant predictors combined into two multivariate logistic regression models. Model 1 controlled for: patient race, proportion of 13-17 year olds in provider's practice, discussion beliefs scale and discussion behaviors with parents scale. Model 2 controlled for the same first three variables as well as discussion behaviors with adolescents scale. Model 1 showed for each discussion beliefs scale topic selected, family medicine physicians had 1.14 increased odds of endorsing annual visits (p family medicine physicians had 1.15 increased odds of also endorsing the importance of annual visits (p Family medicine physicians that endorse annual visits are significantly more likely to affirm they hold strong beliefs about topics that should be discussed during the annual exam. They also act on these beliefs by talking to parents of teens about these topics. This group appears to focus on quality of care in thought and deed.

  20. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  1. Identification of wild soybean (Glycine soja) TIFY family genes and their expression profiling analysis under bicarbonate stress.

    Science.gov (United States)

    Zhu, Dan; Bai, Xi; Luo, Xiao; Chen, Qin; Cai, Hua; Ji, Wei; Zhu, Yanming

    2013-02-01

    Wild soybean (Glycine soja L. G07256) exhibits a greater adaptability to soil bicarbonate stress than cultivated soybean, and recent discoveries show that TIFY family genes are involved in the response to several abiotic stresses. A genomic and transcriptomic analysis of all TIFY genes in G. soja, compared with G. max, will provide insight into the function of this gene family in plant bicarbonate stress response. This article identified and characterized 34 TIFY genes in G. soja. Sequence analyses indicated that most GsTIFY proteins had two conserved domains: TIFY and Jas. Phylogenetic analyses suggested that these GsTIFY genes could be classified into two groups. A clustering analysis of all GsTIFY transcript expression profiles from bicarbonate stress treated G. soja showed that there were five different transcript patterns in leaves and six different transcript patterns in roots when the GsTIFY family responds to bicarbonate stress. Moreover, the expression level changes of all TIFY genes in cultivated soybean, treated with bicarbonate stress, were also verified. The expression comparison analysis of TIFYs between wild and cultivated soybeans confirmed that, different from the cultivated soybean, GsTIFY (10a, 10b, 10c, 10d, 10e, 10f, 11a, and 11b) were dramatically up-regulated at the early stage of stress, while GsTIFY 1c and 2b were significantly up-regulated at the later period of stress. The frequently stress responsive and diverse expression profiles of the GsTIFY gene family suggests that this family may play important roles in plant environmental stress responses and adaptation.

  2. Classification and evolutionary analysis of the basic helix-loop-helix gene family in the green anole lizard, Anolis carolinensis.

    Science.gov (United States)

    Liu, Ake; Wang, Yong; Zhang, Debao; Wang, Xuhua; Song, Huifang; Dang, Chunwang; Yao, Qin; Chen, Keping

    2013-08-01

    Helix-loop-helix (bHLH) proteins play essential regulatory roles in a variety of biological processes. These highly conserved proteins form a large transcription factor superfamily, and are commonly identified in large numbers within animal, plant, and fungal genomes. The bHLH domain has been well studied in many animal species, but has not yet been characterized in non-avian reptiles. In this study, we identified 102 putative bHLH genes in the genome of the green anole lizard, Anolis carolinensis. Based on phylogenetic analysis, these genes were classified into 43 families, with 43, 24, 16, 3, 10, and 3 members assigned into groups A, B, C, D, E, and F, respectively, and 3 members categorized as "orphans". Within-group evolutionary relationships inferred from the phylogenetic analysis were consistent with highly conserved patterns observed for introns and additional domains. Results from phylogenetic analysis of the H/E(spl) family suggest that genome and tandem gene duplications have contributed to this family's expansion. Our classification and evolutionary analysis has provided insights into the evolutionary diversification of animal bHLH genes, and should aid future studies on bHLH protein regulation of key growth and developmental processes.

  3. Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.

    Science.gov (United States)

    Geha, Paul; Yang, Yang; Estacion, Mark; Schulman, Betsy R; Tokuno, Hajime; Apkarian, A Vania; Dib-Hajj, Sulayman D; Waxman, Stephen G

    2016-06-01

    There is a need for more effective pharmacotherapy for chronic pain, including pain in inherited erythromelalgia (IEM) in which gain-of-function mutations of sodium channel NaV1.7 make dorsal root ganglion (DRG) neurons hyperexcitable. To determine whether pain in IEM can be attenuated via pharmacotherapy guided by genomic analysis and functional profiling. Pain in 2 patients with IEM due to the NaV1.7 S241T mutation, predicted by structural modeling and functional analysis to be responsive to carbamazepine, was assessed in a double-blind, placebo-controlled study conducted from September 2014 to April 21, 2015. Functional magnetic resonance imaging assessed patterns of brain activity associated with pain during treatment with placebo or carbamazepine. Multielectrode array technology was used to assess the effect of carbamazepine on firing of DRG neurons carrying S241T mutant channels. Behavioral assessment of pain; functional magnetic resonance imaging; and assessment of firing in DRG neurons carrying S241T mutant channels. This study included 2 patients from the same family with IEM and the S241T NaV1.7 mutation. We showed that, as predicted by molecular modeling, thermodynamic analysis, and functional profiling, carbamazepine attenuated pain in patients with IEM due to the S241T NaV1.7 mutation. Patient 1 reported a reduction in mean time in pain (TIP) per day during the 15-day maintenance period, from 424 minutes while taking placebo to 231.9 minutes while taking carbamazepine (400 mg/day), and a reduction in total TIP over the 15-day maintenance period, from 6360 minutes while taking placebo to 3015 minutes while taking carbamazepine. Patient 2 reported a reduction in mean TIP per day during the maintenance period, from 61 minutes while taking placebo to 9.1 minutes while taking carbamazepine (400 mg then 200 mg/day), and a reduction in total TIP, from 915 minutes while taking placebo over the 15-day maintenance period to 136 minutes while taking carbamazepine

  4. Work-family culture within hospitals: An interdepartmental analysis of employee engagement and retention.

    Science.gov (United States)

    Perrigino, Matthew B; Dunford, Benjamin B; Troup, Matt; Boss, R Wayne; Boss, David S

    2017-12-19

    Helping employees balance their work and family needs is increasingly pivotal for attracting, engaging, and retaining key talent in health care. Yet, emerging theory and anecdotal evidence suggest that, within organizations, there is considerable variation between departments or units regarding how employees' lives outside work are supported. Despite top management's efforts to develop a unified organizational work-family culture, departments have a tendency to take on their own culture, norms, and traditions such that some are more supportive than others. We investigate whether more positive work-family cultures improve functioning within hospital departments. We surveyed 680 hospital employees nested within 60 departments at a hospital located in the southeastern United States. Departments with a more (vs. less) positive work-family culture tend to have higher levels of (a) employee engagement, (b) pride in their organization, (c) confidence in management and leadership, and (d) intention to remain with the organization. Our analyses were robust when splitting the sample between clinical (e.g., nurses and physicians) and nonclinical (e.g., office, clerical, and support services) roles. Our study sheds further light on the importance of a positive work-family culture within hospitals. The key to instilling a positive, organization-wide work-family culture may be through a department-by-department focus. Benefits of positive work-family cultures within departments can extend beyond job-related attitudes and can potentially enhance recruitment strategies, improve a hospital's external image to the public, and lead to improvements in patient care and more positive patient experiences.

  5. Sociodemographic characteristics associated with frequency and duration of eating family meals: a cross-sectional analysis.

    Science.gov (United States)

    Skeer, Margie R; Yantsides, Konstantina E; Eliasziw, Misha; Tracy, Migdalia R; Carlton-Smith, Allison R; Spirito, Anthony

    2016-01-01

    Children who frequently eat family meals are less likely to develop risk- and behavior-related outcomes, such as substance misuse, sexual risk, and obesity. Few studies have examined sociodemographic characteristics associated with both meal frequency (i.e., number of meals) and duration (i.e., number of minutes spent at mealtimes). We examine the association between sociodemographics and family meal frequency and duration among a sample of 85 parents in a large New England city that was recruited through the public-school system. Additionally, we examined differences in family meals by race/ethnicity and parental nativity. Unadjusted ANOVA and adjusted ANCOVA models were used to assess the associations between sociodemographic characteristics and frequency and duration of meals. Sociodemographic characteristics were not significantly associated with the frequency of family meals; however, in the adjusted models, differences were associated with duration of meals. Parents who were born outside the U.S. spent an average of 135.0 min eating meals per day with their children compared to 76.2 for parents who were born in the U.S. ( p  meals (126.7 min) compared to parents who reported being married or partnered (84.4; p  = 0.02). Differences existed in meal duration by parental nativity and race/ethnicity, ranging from 63.7 min among multi-racial/other parents born in the U.S. to 182.8 min among black parents born outside the U.S. This study builds a foundation for focused research into the mechanisms of family meals. Future longitudinal epidemiologic research on family meals may help to delineate targets for prevention of maladaptive behaviors, which could affect family-based practices, interventions, and policies.

  6. Examining the Nature of the Association Between Attention-Deficit/Hyperactivity Disorder and Nicotine Dependence: A Familial Risk Analysis

    Science.gov (United States)

    Biederman, Joseph; Petty, Carter R.; Hammerness, Paul; Woodworth, K. Yvonne; Faraone, Stephen V.

    2013-01-01

    Objective The main aim of this study was to use familial risk analysis to examine the association between attention-deficit/hyperactivity disorder (ADHD) and nicotine dependence. Methods Subjects were children with (n = 257) and without (n = 229) ADHD of both sexes ascertained form pediatric and psychiatric referral sources and their first-degree relatives (N = 1627). Results Nicotine dependence in probands increased the risk for nicotine dependence in relatives irrespective of ADHD status. There was no evidence of cosegregation or assortative mating between these disorders. Patterns of familial risk analysis suggest that the association between ADHD and nicotine dependence is most consistent with the hypothesis of independent transmission of these disorders. Conclusions These findings may have important implications for the identification of a subgroup of children with ADHD at high risk for nicotine dependence based on parental history of nicotine dependence. PMID:23461889

  7. Role Of Family Planning Practices In The Control And Prevention of Uterine Cervical Cancer- A Multivariate Analysis

    Directory of Open Access Journals (Sweden)

    Sharma S

    1995-01-01

    Full Text Available Research Question: Does acceptance of family planning reduce the risk of uterine cervical cancer? Objective: To study the association between usage of contraceptive methods and cervical carcinogenesis. Study design: Case control study. Settings: Urban Area â€" Hospital Based. Participants: 160 women having different degrees of dysplasia and 173 women having normal pap smears. Statistical Analysis: Multivariate Analysis. Results: None of the three widely prevalent Family Planning practices viz. IUD condoms and tubectomy turned out to be significant in the development of dysplasia, however, age at consummation of marriage before 18 years and illiteracy were significant. Use of IUD offered protection against carcinoma in situ (CIS and disease of invasive nature. Non- users of condoms were also at risk marginally failing to attain statistical significance.

  8. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Science.gov (United States)

    Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; 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. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

  9. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

    Science.gov (United States)

    Dworschak, Gabriel C; Zwink, Nadine; Schmiedeke, Eberhard; Mortazawi, Kiarasch; Märzheuser, Stefanie; Reinshagen, Konrad; Leonhardt, Johannes; Gómez, Barbara; Volk, Patrick; Rißmann, Anke; Jenetzky, Ekkehart; Reutter, Heiko

    2017-12-13

    Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM. Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%). Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.

  10. Oral Language Deficits in Familial Dyslexia: A Meta-Analysis and Review

    Science.gov (United States)

    2016-01-01

    This article reviews 95 publications (based on 21 independent samples) that have examined children at family risk of reading disorders. We report that children at family risk of dyslexia experience delayed language development as infants and toddlers. In the preschool period, they have significant difficulties in phonological processes as well as with broader language skills and in acquiring the foundations of decoding skill (letter knowledge, phonological awareness and rapid automatized naming [RAN]). Findings are mixed with regard to auditory and visual perception: they do not appear subject to slow motor development, but lack of control for comorbidities confounds interpretation. Longitudinal studies of outcomes show that children at family risk who go on to fulfil criteria for dyslexia have more severe impairments in preschool language than those who are defined as normal readers, but the latter group do less well than controls. Similarly at school age, family risk of dyslexia is associated with significantly poor phonological awareness and literacy skills. Although there is no strong evidence that children at family risk are brought up in an environment that differs significantly from that of controls, their parents tend to have lower educational levels and read less frequently to themselves. Together, the findings suggest that a phonological processing deficit can be conceptualized as an endophenotype of dyslexia that increases the continuous risk of reading difficulties; in turn its impact may be moderated by protective factors. PMID:26727308

  11. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Directory of Open Access Journals (Sweden)

    Wenqiang Sun

    Full Text Available In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; 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. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79 and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver, we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

  12. Decascading in analysis of gamma family characteristics obtained in X-ray emulsion chambers

    International Nuclear Information System (INIS)

    Vrotnyak, Ya.A.; Tomashevskij, A.; Yushkevich, R.M.

    1976-01-01

    The purpose of the investigation is to ascertain how decascading (D) restores the initial characteristics of γ-quanta families and how this restoration depends on the choice of the parameter D associated with the altitude of γ-quanta generation. This investigation shows to what extent D is useful in analysing families formed in several acts at different altitudes. In casting Monte Carlo lots for separate events a nuclear act model is used in the form of successive Hasegawa's H-quanta. The calculations have been made for primary nucleon energies of 200, 400, 800, and 1600 TeV and for generation altitudes of 560, 1100, and 2200 m above the sea level (the adopted observation level is 4500 m above the sea level). It is considered that the use of the D method largely eliminates the effect of electromagnetic cascade processes in the atmosphere on the characteristics of ''pure'' families. In the case of ''impure'' families this elimination is also considerable. D must increase the sensitivity of the characteristics of experimental and artificial γ-families to the elementary act parameters

  13. Family Material Hardship and Chinese Adolescents’ Problem Behaviors: A Moderated Mediation Analysis

    Science.gov (United States)

    Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; 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. In addition, based on resilience theory, we investigated adolescents’ resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents’ problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors. PMID:26010256

  14. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    Energy Technology Data Exchange (ETDEWEB)

    Hallmayer, J.; Pintado, E.; Lotspeich, L.; Spiker, D.; Kraemer, H.C.; Lee Wong, D.; Lin, A.; Herbert, J.; Cavalli-Sforza, L.L.; Ciaranello, R.D. [Stanford Univ., CA (United States)] [and others

    1994-11-01

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen in the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.

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

    Science.gov (United States)

    2016-07-01

    Nebraska Medical Center in Omaha). These trained parents will then be able to implement effective behavior management and teaching strategies with... parents . Interventions based on applied behavior analysis are well documented, but unfortunately these services are often not available to military...availability of this effective treatment. The fifth year of the award involved the continued recruitment of families with a child with an ASD to

  16. Genome-wide analysis of the Dof transcription factor gene family reveals soybean-specific duplicable and functional characteristics.

    Directory of Open Access Journals (Sweden)

    Yong Guo

    Full Text Available The Dof domain protein family is a classic plant-specific zinc-finger transcription factor family involved in a variety of biological processes. There is great diversity in the number of Dof genes in different plants. However, there are only very limited reports on the characterization of Dof transcription factors in soybean (Glycine max. In the present study, 78 putative Dof genes were identified from the whole-genome sequence of soybean. The predicted GmDof genes were non-randomly distributed within and across 19 out of 20 chromosomes and 97.4% (38 pairs were preferentially retained duplicate paralogous genes located in duplicated regions of the genome. Soybean-specific segmental duplications contributed significantly to the expansion of the soybean Dof gene family. These Dof proteins were phylogenetically clustered into nine distinct subgroups among which the gene structure and motif compositions were considerably conserved. Comparative phylogenetic analysis of these Dof proteins revealed four major groups, similar to those reported for Arabidopsis and rice. Most of the GmDofs showed specific expression patterns based on RNA-seq data analyses. The expression patterns of some duplicate genes were partially redundant while others showed functional diversity, suggesting the occurrence of sub-functionalization during subsequent evolution. Comprehensive expression profile analysis also provided insights into the soybean-specific functional divergence among members of the Dof gene family. Cis-regulatory element analysis of these GmDof genes suggested diverse functions associated with different processes. Taken together, our results provide useful information for the functional characterization of soybean Dof genes by combining phylogenetic analysis with global gene-expression profiling.

  17. Child impact on family functioning: a multivariate analysis in multiplex families with children and mothers both affected by attention-deficit/hyperactivity disorder (ADHD).

    Science.gov (United States)

    Fleck, Katja; Jacob, Christian; Philipsen, Alexandra; Matthies, Swantje; Graf, Erika; Hennighausen, Klaus; Haack-Dees, Barbara; Weyers, Peter; Warnke, Andreas; Rösler, Michael; Retz, Wolfgang; von Gontard, Alexander; Hänig, Susan; Freitag, Christine; Sobanski, Esther; Schumacher-Stien, Martina; Poustka, Luise; Bliznak, Lucia; Becker, Katja; Holtmann, Martin; Colla, Michael; Gentschow, Laura; Kappel, Viola; Jaite, Charlotte; Jans, Thomas

    2015-09-01

    ADHD seriously impacts family functioning, even the more in families with simultaneous parental and child ADHD. The aim of the study was to examine associations between family impact of child ADHD and child, mother and family characteristics in multiplex families with children and mothers both affected by ADHD. One hundred and forty-four mother-child pairs were assessed (children: mean age 9.4 ± 1.7 years, 73.6 % male). Family impact of child ADHD was rated by mothers using the Family Impact Questionnaire (FIQ). Multiple linear regression analyses were performed with child and maternal psychopathology and basic family characteristics such as employment, partnership status and number of children as predictors and FIQ subscores as criteria. Rates of variance explained by family variables were 49 % for negative feelings towards the child, 37 % for impact on partnership, 31 % for impact on social life and 27 % for impact on finances (p ADHD and co-morbid symptoms of the mother. The strongest independent predictor was oppositional defiant child behaviour. In ADHD multiplex families, mothers' perception of the impact of an ADHD child on its family can be explained to a substantial degree by child psychopathology, maternal psychopathology and basic family characteristics. Although a cross-sectional design does not allow for causal interpretations, the findings of this study offer important targets for the treatment of ADHD in a family context pointing to the need for assessing and treating parental mental health and co-morbid symptoms besides ADHD core symptoms.

  18. Genome-wide analysis of Aux/IAA gene family in Solanaceae species using tomato as a model.

    Science.gov (United States)

    Wu, Jian; Peng, Zhen; Liu, Songyu; He, Yanjun; Cheng, Lin; Kong, Fuling; Wang, Jie; Lu, Gang

    2012-04-01

    Auxin plays key roles in a wide variety of plant activities, including embryo development, leaf formation, phototropism, fruit development and root initiation and development. Auxin/indoleacetic acid (Aux/IAA) genes, encoding short-lived nuclear proteins, are key regulators in the auxin transduction pathway. But how they work is still unknown. In order to conduct a systematic analysis of this gene family in Solanaceae species, a genome-wide search for the homologues of auxin response genes was carried out. Here, 26 and 27 non redundant AUX/IAAs were identified in tomato and potato, respectively. Using tomato as a model, a comprehensive overview of SlIAA gene family is presented, including the gene structures, phylogeny, chromosome locations, conserved motifs and cis-elements in promoter sequences. A phylogenetic tree generated from alignments of the predicted protein sequences of 31 OsIAAs, 29 AtIAAs, 31 ZmIAAs, and 26 SlIAAs revealed that these IAAs were clustered into three major groups and ten subgroups. Among them, seven subgroups were present in both monocot and dicot species, which indicated that the major functional diversification within the IAA family predated the monocot/dicot divergence. In contrast, group C and some other subgroups seemed to be species-specific. Quantitative real-time PCR (qRT-PCR) analysis showed that 19 of the 26 SlIAA genes could be detected in all tomato organs/tissues, however, seven of them were specifically expressed in some of tomato tissues. The transcript abundance of 17 SlIAA genes were increased within a few hours when the seedlings were treated with exogenous IAA. However, those of other six SlIAAs were decreased. The results of stress treatments showed that most SIIAA family genes responded to at least one of the three stress treatments, however, they exhibited diverse expression levels under different abiotic stress conditions in tomato seedlings. SlIAA20, SlIAA21 and SlIAA22 were not significantly influenced by stress

  19. Dyadic confirmatory factor analysis of the inflammatory bowel disease family responsibility questionnaire.

    Science.gov (United States)

    Greenley, Rachel Neff; Reed-Knight, Bonney; Blount, Ronald L; Wilson, Helen W

    2013-09-01

    Evaluate the factor structure of youth and maternal involvement ratings on the Inflammatory Bowel Disease Family Responsibility Questionnaire, a measure of family allocation of condition management responsibilities in pediatric inflammatory bowel disease. Participants included 251 youth aged 11-18 years with inflammatory bowel disease and their mothers. Item-level descriptive analyses, subscale internal consistency estimates, and confirmatory factor analyses of youth and maternal involvement were conducted using a dyadic data-analytic approach. Results supported the validity of 4 conceptually derived subscales including general health maintenance, social aspects, condition management tasks, and nutrition domains. Additionally, results indicated adequate support for the factor structure of a 21-item youth involvement measure and strong support for a 16-item maternal involvement measure. Additional empirical support for the validity of the Inflammatory Bowel Disease Family Responsibility Questionnaire was provided. Future research to replicate current findings and to examine the measure's clinical utility is warranted.

  20. [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

    Science.gov (United States)

    Zhang, Qiong; Jiang, Hai-ou; Quan, Qing-li; Li, Jun; He, Ting; Huang, Xue-shuang

    2011-12-01

    To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis. Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions. All patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded. The hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

  1. A cost analysis for the implementation of commonality in the family of commuter airplanes, revised

    Science.gov (United States)

    Creighton, Tom; Haddad, Rafael; Hendrich, Louis; Hensley, Doug; Morgan, Louise; Russell, Mark; Swift, Jerry

    1987-01-01

    The acquisition costs determined for the NASA family of commute airplanes are presented. The costs of the baseline designs are presented along with the calculated savings due to the commonality in the family. A sensitivity study is also presented to show the major drivers in the acquisition cost calculations. The baseline costs are calculated with the Nicolai method. A comparison is presented of the estimated costs for the commuter family with the actual price for existing commuters. The cost calculations for the engines and counter-rotating propellers are reported. The effects of commonality on acquisition costs are calculated. The sensitivity calculations of the cost to various costing parameters are shown. The calculations for the direct operating costs, with and without commonality are presented.

  2. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    Energy Technology Data Exchange (ETDEWEB)

    Shashi, V.; Golden, W.L.; Allinson, P.S. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)] [and others

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  3. Personality disorder traits, family environment, and alcohol misuse: a multivariate behavioural genetic analysis.

    Science.gov (United States)

    Jang, K L; Vernon, P A; Livesley, W J

    2000-06-01

    This study seeks to estimate the extent to which a common genetic and environmental basis is shared between (i) traits delineating specific aspects of antisocial personality and alcohol misuse, and (ii) childhood family environments, traits delineating broad domains of personality pathology and alcohol misuse. Postal survey data were collected from monozygotic and dizygotic twin pairs. Twin pairs were recruited from Vancouver, British Columbia and London, Ontario, Canada using newspaper advertisements, media stories and twin clubs. Data obtained from 324 monozygotic and 335 dizygotic twin pairs were used to estimate the extent to which traits delineating specific antisocial personality traits and alcohol misuse shared a common genetic and environmental aetiology. Data from 81 monozygotic and 74 dizygotic twin pairs were used to estimate the degree to which traits delineating personality pathology, childhood family environment and alcohol misuse shared a common aetiology. Current alcohol misuse and personality pathology were measured using scales contained in the self-report Dimensional Assessment of Personality Pathology. Perceptions of childhood family environment were measured using the self-report Family Environment Scale. Multivariate genetic analyses showed that a subset of traits delineating components of antisocial personality (i.e. grandiosity, attention-seeking, failure to adopt social norms, interpersonal violence and juvenile antisocial behaviours) are influenced by genetic factors in common to alcohol misuse. Genetically based perceptions of childhood family environment had little relationship with alcohol misuse. Heritable personality factors that influence the perception of childhood family environment play only a small role in the liability to alcohol misuse. Instead, liability to alcohol misuse is related to genetic factors common a specific subset of antisocial personality traits describing conduct problems, narcissistic and stimulus

  4. An Analysis of Paid Family and Sick Leave Advocacy in Louisiana: Lessons Learned.

    Science.gov (United States)

    Raabe, Phyllis Hutton; Theall, Katherine P

    2016-01-01

    In contrast with other developed countries, the United States lacks national paid maternity/family and sick leave policies, negatively impacting the health and economic security of both female and male workers and their children. Employer paid family and sick leave policies cover only about half of workers, and those lacking paid leaves are more likely to be less educated and with lower incomes. Louisiana has high proportions of poor and low income workers who especially would benefit from national or state paid leave policies. In the absence of national paid leaves, several states and cities have implemented paid family and sick leaves. In this context and following the American Public Health Association's endorsement of paid family and sick leaves for health and wellbeing, the Tulane University Mary Amelia Women's Center decided to advocate for paid leave policies in Louisiana. Highlights of a Louisiana spring 2015 initiative were a talk by the President of the Institute for Women's Policy Research on the economic and health benefits of paid family and sick leaves and bills submitted by a State Senator. As has happened elsewhere, opposition from businesses and Republican legislators blocked passage. This outcome fit the Center's original expectations that communicating about the important health and other benefits of paid family and sick leaves, and developing support for state-wide policies, would be a long process-but one important to begin. The initiative in Louisiana may provide insights for paid leave advocacy elsewhere. Copyright © 2016 Jacobs Institute of Women's Health. Published by Elsevier Inc. All rights reserved.

  5. An analysis of pre-service family planning teaching in clinical and nursing education in Tanzania.

    Science.gov (United States)

    Muganyizi, Projestine S; Ishengoma, Joyce; Kanama, Joseph; Kikumbih, Nassoro; Mwanga, Feddy; Killian, Richard; McGinn, Erin

    2014-07-12

    Promoting family planning (FP) is a key strategy for health, economic and population growth. Sub-Saharan Africa, with one of the lowest contraceptive prevalence and highest fertility rates globally, contributes half of the global maternal deaths. Improving the quality of FP services, including enhancing pre-service FP teaching, has the potential to improve contraceptive prevalence. In efforts to improve the quality of FP services in Tanzania, including provider skills, this study sought to identify gaps in pre-service FP teaching and suggest opportunities for strengthening the training. Data were collected from all medical schools and a representative sample of pre-service nursing, Assistant Medical Officer (AMO), Clinical Officer (CO) and assistant CO schools in mainland Tanzania. Teachers responsible for FP teaching at the schools were interviewed using a semi-structured questionnaire. Observations on availability of teaching resources and other evidence of FP teaching and evaluation were documented. Relevant approved teaching documents were