WorldWideScience

Sample records for family geno typing

  1. Cerebrotendinous xanthomatosis in a Saudi Arabian family geno typing and long-term follow-up

    International Nuclear Information System (INIS)

    Price Evans, David A.; Mobrad, M.A.; Salah, Kawther A.; Olin, M.; Eggertsen, G.; Mitchell, William D.

    2007-01-01

    A Saudi Arabian family is described in which there 2siblings with typical features of cerebral xanthomatosis (CTX) including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances and atherosclerosis. The two patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene (CYP27A1, OMIM 606530) located in the splice site of intron 6, where G exchanged for A (IVS6+1G>A). There parents were cousins, 5 siblings were healthy, 2 were heterozyguous for the mutation and one showed the wild-type genotype. The father was heterozyguous for the mutation, while the other family members were not tested. The progress of 2 CTX patients over 14 years is described; firstly when they were receiving treatment with chenodeoxycholic acid; when this medication was not available and then later when it was restored. A hereditary hyperlipidemia was also present in this family. It is suggested that when this occurs with CTX, a more seriuos illness results that merits more aggressive dual therapy. (author)

  2. Famiglia e geno-poiesi nel Nazionalsocialismo - Family and genos-poiesis in National Socialism

    Directory of Open Access Journals (Sweden)

    Alberto Castaldini

    2014-12-01

    Full Text Available The Nazi regime (1933-45 wanted to protect and promote through the creation of a new family structure the conservation of the biological heredity of the German nation, in order to preserve and refine obsessively the identity and the purity of the so-called Blutsgemeinschaft, the “community of blood” in which to identify the political and the cultural entity of the Volk, one of the pillars of Hitler’s biocracy. In the first half of the 20th century the value of memory, the nature of the family and the meaning of the relationship between the generations were manipulated and debased. This view, with its tragic ethical and juridical consequences, was scientifically warranted by German academic world, whose leading exponents took controversial positions. For instance the human biologist and eugenicist Otmar von Verschuer (1896-1969 theorized a biological unity between present and past, stating that the “German people is a large community of ancestors, namely a consanguineous solidarity”. In this way the Nazis deeply redefined the bonds of kinship and the genos assumed the nature of a “fictitious symbol” (C. Tullio-Altan in the service of a regime that in the name of an imaginary ancestral vitalism pursued a systematic policy of death.

  3. Rapid Screening of MDR-TB in Cases of Extra Pulmonary Tuberculosis Using Geno Type MTBDRplus.

    Directory of Open Access Journals (Sweden)

    Richa Kumari

    Full Text Available Drug resistance in tuberculosis is a major public health challenge in developing countries. The limited data available on drug resistance in extra pulmonary tuberculosis stimulated us to design our study on anti-tuberculosis drug resistance pattern in cases of extra pulmonary tuberculosis in a tertiary referral hospital of North India. We performed Geno Type MTBDRplus assay in comparison with conventional drug susceptibility testing by proportion method to study the mutation patterns in rpoB, katG and inhA genes.A total of 510 extra pulmonary samples were included in this study. After the smear microscopy, all the specimens were subjected for culture on Lowenstein Jensen (LJ media. Phenotypic drug susceptibility testing (DST was performed on LJ media for all the MTB isolates and compared with the results of Geno Type MTBDRplus assay which was performed with the DNA isolated from the culture by conventional method.Of 510 specimens cultured, the total culture positivity obtained was 11.8% (60 encompassing 54 (10.6% Mycobacterium tuberculosis and 6 (1.2% non-tubercular mycobacteria (NTM. DST results by Geno Type MTBDRplus assay and solid culture methods were compared in 51 MTB isolates excluding the two Rif indeterminate and one invalid test. Geno Type MTBDRplus accurately identified 13 of 14 rifampicin-resistant strains, 14 of 15 isoniazid-resistant strains and 13 of 14 as multi drug resistant tuberculosis (MDR-TB in comparison with conventional method. Sensitivity and specificity were 92.86% and 97.30% respectively for detection of RIF resistance, 93.33% and 94.44% respectively for detection of INH resistance, 92.86% and 97.30% respectively for detection of MDR-TB, while the overall concordance of Geno Type MTBDRplus assay with conventional DST was 94.11%. The turn-around time for performing Geno Type MTBDRplus assay test was 48 hours.The problem of MDR in extra pulmonary tuberculosis (EPTB cannot be overlooked and due attention on patients

  4. Evaluation of GenoType NTM-DR Assay for Identification of Mycobacterium chimaera.

    Science.gov (United States)

    Mok, Simone; Rogers, Thomas R; Fitzgibbon, Margaret

    2017-06-01

    Identification of species within the Mycobacterium avium complex (MAC) is difficult, and most current diagnostic laboratory tests cannot distinguish between species included in the complex. Differentiation of species within the MAC is important, as Mycobacterium chimaera has recently emerged as a major cause of invasive cardiovascular infections following open heart surgery. A new commercial diagnostic assay, GenoType NTM-DR ver. 1.0, is intended to differentiate between three species within the MAC, namely, Mycobacterium avium , Mycobacterium intracellulare , and Mycobacterium chimaera In this study, we investigated an archival collection of 173 MAC isolates using 16S rRNA and 16S-23S internal transcribed spacer (ITS) gene sequencing, and GenoType NTM-DR was evaluated for identifying M. chimaera and other species belonging to the MAC. Species identification of 157/173 (91%) isolates with the GenoType NTM-DR assay was in agreement with 16S rRNA and 16S-23S ITS gene sequencing results. Misidentification occurred with 16 isolates which belonged to four species included in the MAC that are rarely encountered in clinical specimens. Despite some limitations of this assay, GenoType NTM-DR had 100% specificity for identifying M. chimaera This novel assay will enable diagnostic laboratories to differentiate species belonging to the Mycobacterium avium complex and to accurately identify M. chimaera It can produce rapid results and is also more cost efficient than gene sequencing methods. Copyright © 2017 American Society for Microbiology.

  5. Molecular diagnosis of MDR-TB using GenoType MTBDR plus 96 ...

    African Journals Online (AJOL)

    This three month laboratory- based study (1st September-30th November, 2011) was carried out at the TB laboratories of the University College Hospital, Ibadan, Nigeria to determine the magnitude of MDR-TB using molecular based GenoType MTBDRplus 96 assay. Two sputum samples were collected from each subject.

  6. GenoType HelicoDR test in the determination of antimicrobial resistance of Helicobacter pylori in Korea.

    Science.gov (United States)

    Lee, Jung Won; Kim, Nayoung; Nam, Ryoung Hee; Park, Ji Hyun; Choi, Yoon Jin; Kim, Jung Mogg; Kim, Joo Sung; Jung, Hyun Chae

    2014-09-01

    Antimicrobial resistance of Helicobacter pylori is most important factor in eradication success. GenoType HelicoDR test has been developed for rapid detection of antimicrobial resistance. The present study evaluated the clinical usefulness of GenoType HelicoDR test in Korea. To detect 23S rRNA for clarithromycin resistance and gyrA mutations for fluoroquinolone resistance, both DNA sequencing after minimal inhibitory test (MIC) and GenoType HelicoDR test were performed in H. pylori isolates from the gastric mucosa of 101 patients. The eradication results of clarithromycin and moxifloxacin-containing triple therapy were evaluated by the 23S rRNA and gyrA mutations. For 42 isolates with A2143G mutation by GenoType HelicoDR, 83.3% (35/42) of concordance rate was estimated with DNA sequencing method and 85.7% (36/42) for MIC test. For 43 isolates with N87K mutation by GenoType HelicoDR, 71.1% (31/43) of concordance rate was estimated with DNA sequencing and 88.4% (38/43) for MIC test. The sensitivity and specificity of GenoType HelicoDR test in determination of 23S rRNA mutation were 94.9% and 87.1%, and those of gyrA 98.2% and 80.0%. The sensitivity and specificity of GenoType HelicoDR test in determination of clarithromycin resistance based on MIC test were 55.0% and 80.0%, for fluoroquinolone 74.4% and 70.0%. GenoType HelicoDR test is useful to determine mutations responsible for clarithromycin or fluoroquinolone-containing eradication failure but has a limitation for the clinical applicability in determination of resistance.

  7. Type Families with Class, Type Classes with Family

    DEFF Research Database (Denmark)

    Serrano, Alejandro; Hage, Jurriaan; Bahr, Patrick

    2015-01-01

    Type classes and type families are key ingredients in Haskell programming. Type classes were introduced to deal with ad-hoc polymorphism, although with the introduction of functional dependencies, their use expanded to type-level programming. Type families also allow encoding type-level functions......, now as rewrite rules. This paper looks at the interplay of type classes and type families, and how to deal with shortcomings in both of them. Furthermore, we show how to use families to simulate classes at the type level. However, type families alone are not enough for simulating a central feature...

  8. Evaluation of the BACTEC MGIT 960 SL DST Kit and the GenoType MTBDRsl Test for Detecting Extensively Drug-resistant Tuberculosis Cases

    Science.gov (United States)

    Tekin, Kemal; Albay, Ali; Simsek, Hulya; Sig, Ali Korhan; Guney, Mustafa

    2017-01-01

    Objective: The present study aimed to evaluate the performances of the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test for detecting second-line antituberculosis drug resistance in Multidrug-resistant TB (MDR-TB) cases. Materials and Methods: Forty-six MDR-TB strains were studied. Second-line antituberculosis drug resistances were detected using the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test. The Middlebrook 7H10 agar proportion method was used as the reference test. Results: The sensitivity and specificity values for the BACTEC MGIT 960 SL DST kit were both 100% for amikacin, kanamycin, capreomycin (4 µg/mL), and ofloxacin; 100% and 95.3%, respectively, for capreomycin (10 µg/mL); and 85.7% and 100%, respectively, for moxifloxacin (0.5 µg/mL). The sensitivity and specificity values for the GenoType MTBDRsl test to detect fluoroquinolone and aminoglycoside/cyclic peptide resistance were 88.9% and 100%, respectively, for ofloxacin and 85.7% and 94.9%, respectively, for moxifloxacin (0.5 µg/mL). The accuracy of the GenoType MTBDRsl assay for kanamycin, capreomycin, ofloxacin, and moxifloxacin was lower than that of the BACTEC MGIT 960 SL DST. Conclusion: The BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl were successful in detecting second-line antituberculosis drug resistance. Preliminary results of the GenoType MTBDRsl are very valuable for early treatment decisions, but we still recommend additional BACTEC MGIT 960 SL DST kit usage in the routine evaluation of drug-resistant tuberculosis. PMID:29123441

  9. Evaluation of the BACTEC MGIT 960 SL DST Kit and the GenoType MTBDRsl Test for Detecting Extensively Drug-resistant Tuberculosis Cases.

    Science.gov (United States)

    Tekin, Kemal; Albay, Ali; Simsek, Hulya; Sig, Ali Korhan; Guney, Mustafa

    2017-10-01

    The present study aimed to evaluate the performances of the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test for detecting second-line antituberculosis drug resistance in Multidrug-resistant TB (MDR-TB) cases. Forty-six MDR-TB strains were studied. Second-line antituberculosis drug resistances were detected using the BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl test. The Middlebrook 7H10 agar proportion method was used as the reference test. The sensitivity and specificity values for the BACTEC MGIT 960 SL DST kit were both 100% for amikacin, kanamycin, capreomycin (4 µg/mL), and ofloxacin; 100% and 95.3%, respectively, for capreomycin (10 µg/mL); and 85.7% and 100%, respectively, for moxifloxacin (0.5 µg/mL). The sensitivity and specificity values for the GenoType MTBDRsl test to detect fluoroquinolone and aminoglycoside/cyclic peptide resistance were 88.9% and 100%, respectively, for ofloxacin and 85.7% and 94.9%, respectively, for moxifloxacin (0.5 µg/mL). The accuracy of the GenoType MTBDRsl assay for kanamycin, capreomycin, ofloxacin, and moxifloxacin was lower than that of the BACTEC MGIT 960 SL DST. The BACTEC MGIT 960 SL DST kit and the GenoType MTBDRsl were successful in detecting second-line antituberculosis drug resistance. Preliminary results of the GenoType MTBDRsl are very valuable for early treatment decisions, but we still recommend additional BACTEC MGIT 960 SL DST kit usage in the routine evaluation of drug-resistant tuberculosis.

  10. Evaluation of a New Test, GenoType HelicoDR, for Molecular Detection of Antibiotic Resistance in Helicobacter pylori▿

    Science.gov (United States)

    Cambau, Emmanuelle; Allerheiligen, Vera; Coulon, Céline; Corbel, Céline; Lascols, Christine; Deforges, Lionel; Soussy, Claude-James; Delchier, Jean-Charles; Megraud, Francis

    2009-01-01

    The eradication rate of Helicobacter pylori by standard therapy is decreasing due to antibiotic resistance, mainly to clarithromycin. Our aim was to provide a new molecular test to guide the treatment of new and relapsed cases. We first studied 126 H. pylori strains for phenotypic (MIC) and genotypic resistance to clarithromycin (rrl mutation) and levofloxacin (gyrA mutation) and then developed a DNA strip genotyping test on the basis of the correlation results and literature data. Clinical strains (n = 92) and gastric biopsy specimens containing H. pylori (n = 105) were tested blindly with the new molecular test GenoType HelicoDR. The presence of mutations or the absence of hybridization with wild-type sequences was predictive, in rrl for clarithromycin resistance in 91 cases (mostly the A2147G mutation) and in gyrA for levofloxacin resistance in 58 cases (mutations at codon 87 or 91). Genotyping revealed a mix of genotypes in 33% of the cases, reflecting a coinfection or selection for resistant mutants. The sensitivity and specificity of detecting resistance were 94% and 99% for clarithromycin and 87% and 98.5% for levofloxacin, respectively. The concordance scores were 0.96 for clarithromycin and 0.94 for levofloxacin. With global resistance rates of 46% for clarithromycin and 25% for levofloxacin, which were observed for consecutive positive biopsy specimens from 2007 and 2008, the positive and negative predictive values for detecting resistance were 99% and 94% for clarithromycin and 96% and 96% for fluoroquinolone. GenoType HelicoDR is efficient at detecting mutations predictive of antibiotic resistance in H. pylori when applied to strains or directly to gastric biopsy specimens. PMID:19759218

  11. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

  12. Evaluation of Geno Type MTBDRplus Line Probe Assay for Early Detection of Drug Resistance in Tuberculous Meningitis Patients in India

    Directory of Open Access Journals (Sweden)

    Renu Gupta

    2015-01-01

    Full Text Available Background: Molecular methods which allow for rapid and reliable detection of drug resistance have yet not been sufficiently evaluated for timely management of patients with tuberculous meningitis. Aims: We aimed to evaluate Geno Type MTBDRplus line probe assay for early detection of drug resistance in Mycobacterium tuberculosis isolates and CSF samples of confirmed tuberculous meningitis patients. Settings and Design: This was a multicentric prospective study carried out from July 2011 to December 2013 in tertiary care hospitals of Delhi. Materials and Methods: The assay was performed on 89 M. tuberculosis isolates and 31 direct CSF samples from microbiologically confirmed tuberculous meningitis patients. The sensitivity and specificity of this assay was calculated in comparison to drug susceptibility testing by BACTEC MGIT 960 system. Results: The sensitivity, specificity for detection of resistance to Isoniazid was 93%, 97% and to Rifampicin was 80%, 98.8%, respectively by this assay in comparison with the phenotypic drug susceptibility testing. The line probe assay could detect M. tuberculosis in 55% of CSF samples from patients with microbiologically confirmed tuberculous meningitis. Only 5/89 isolates (5.6% were resistant to both Isoniazid and Rifampicin while 9/89 (10% isolates were additionally resistant to Isoniazid. Resistance to any of the drugs, namely Isoniazid, Rifampicin, Streptomycin or Ethambutol, was seen in 24.7% of strains. Conclusion: The line probe assay has a good sensitivity and specificity for detection of drug resistance to Isoniazid and Rifampicin in M. tuberculosis culture isolates. However, this assay has limited role in detection of M. tuberculosis and drug resistance from direct samples with confirmed diagnosis of tuberculous meningitis.

  13. Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Zetner, Diana Bregner; Bisgaard, Marie Luise

    2017-01-01

    cases. FCCTX differs in clinical, morphological and molecular genetic characteristics compared to LS, including a later age of onset, distal location of tumours in the colon, lower risk of developing extracolonic tumours and a higher adenoma/carcinoma ratio, which indicates a slower progression to CRC......The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular....... Certain characteristics are shared with sporadic CRC, e.g. similarities in gene expression and a high degree of CIN+, with significanly increased 20q gain in FCCTX. Other molecular characteristics of FCCTX include longer telomere length and hypomethylation of LINE-1, both being a possible explanation...

  14. Diagnostic accuracy of GenoType®MTBDRslVER 2.0 in detecting second-line drug resistance toM. tuberculosis.

    Science.gov (United States)

    Yadav, R; Saini, A; Kaur, P; Behera, D; Sethi, S

    2018-04-01

    A tertiary care hospital in North India. To evaluate the GenoType® MTBDRsl VER 2.0 assay for rapid diagnosis of second-line drug resistance to Mycobacterium tuberculosis. The MTBDRsl VER 2.0 assay was performed on 431 multidrug-resistant M. tuberculosis clinical isolates and specimens. The results were compared with phenotypic drug susceptibility testing (DST) and DNA sequencing. Molecular characterisation of drug resistance using DNA sequencing was performed for gyrA, gyrB, rrs and eis. Of the 415 isolates, respectively 176 (42.4%) and 40 (9.6%) were resistant to levofloxacin (LVX) and kanamycin (KM). The sensitivity and specificity of MTBDRsl VER 2.0 compared with phenotypic DST in detecting LVX resistance were respectively 97.2% (95%CI 93.5-99.1) and 99.1% (95%CI 97-99.9), and for KM resistance they were respectively 92.5% (95%CI 79.6-98.4) and 99.5% (95%CI 98.1-99.9). The MTBDRsl VER 2.0 assay showed very high sensitivity and specificity for the detection of second-line drug resistance, suggesting it has potential for the rapid, early detection of such cases.

  15. An unusual type of familial lipodystrophy

    DEFF Research Database (Denmark)

    Johansen, K; Rasmussen, M H; Kjems, L L

    1995-01-01

    A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance...

  16. First evaluation in Argentina of the GenoType® MTBDRplus assay for multidrug-resistant Mycobacterium tuberculosis detection from clinical isolates and specimens Primera evaluación en Argentina de GenoType® MTBDRplus para la detección de Mycobacterium tuberculosis multidrogo-resistente desde aislamientos y especímenes clínicos

    Directory of Open Access Journals (Sweden)

    Belén R Imperiale

    2012-12-01

    Full Text Available Tuberculosis (TB and multidrug and extensively drug-resistant (DR TB are important public health problems that are spreading worldwide. The aims of this study were to determine the sensitivity and specificity of the GenoType® MT BDRplus assay from smear-positive clinical specimens and isolates and to explore its possible application in routine work. Clinical samples were previously decontaminated using NaOH-N-acetyl-L-cystein or NaOH-ClNa hypertonic solution for Ziehl-Neelsen staining and cultures. The leftover sediments of smear-positive samples were stored at -20 ºC, 70 of which were selected to be included in this study according to their DR profile. Thirty DR Mycobacterium tuberculosis isolates were also assessed. Sequencing was used as gold standard to detect mutations conferring isoniazid (INH and rifampicin (RIF resistance. Valid results were obtained in 94.0 % of the samples and 85.5 % (53/62 of the INH-R samples were properly identified. Mutations in the katGS315T gene and inhA C-15T gene promoter region were present in 59.7 % (37/62 and 25.8% (16/62 of the INH-R samples, respectively. The system could also identify 97.7 % (41/42 of the RIF-R samples; the mutations found were rpoBS531L (66.7 %, 28/42, D516V (19.0 %, 8/42, H526Y and S531P/W (4.8 %, 2/42 each one, and S522L/Q (2.4 %, 1/42. A 98.8 % concordance between the GenoType assay and sequencing was obtained. GenoType® MT BDRplus has demonstrated to be easy to implement and to perform in clinical laboratories and useful for a rapid detection of DR M. tuberculosis from decontaminated sputa and clinical isolates. Therefore, this assay could be applied as a rapid tool to predict INH-R and/or RIF-R in DR risk cases.La tuberculosis (TBC, y la TBC multi y extensivamente drogo-resistentes (DR son importantes problemas de salud pública mundial. El objetivo de este estudio fue determinar la sensibilidad y especificidad del sistema GenoType® MT BDRplus a partir de esputos (baciloscop

  17. Helicobacter pylori from Peptic Ulcer Patients in Uganda Is Highly Resistant to Clarithromycin and Fluoroquinolones: Results of the GenoType HelicoDR Test Directly Applied on Stool

    Directory of Open Access Journals (Sweden)

    Denish Calmax Angol

    2017-01-01

    Full Text Available Background. Around 70–90% of peptic ulcer disease (PUD is due to Helicobacter pylori and requires treatment with antimicrobials to which these bacteria are susceptible. Common H. pylori diagnostic tests do not provide drug susceptibility data. Using the GenoType HelicoDR PCR test designed for gastric biopsies for simultaneous detection of H. pylori and its resistance to clarithromycin (CLA/fluoroquinolones (FLQ, we present evidence for stool as an optional test specimen and also provide data on prevalence of H. pylori resistance to CLA and FLQ in Uganda. Methods. Stool from 142 symptomatic PUD patients at three hospitals in Kampala was screened for H. pylori using a rapid antigen test. The GenoType HelicoDR test was run on all H. pylori antigen positives to determine PCR positivity and resistance to CLA/FLQ. Results. Thirty-one samples (22% were H. pylori antigen positive, and 21 (68% of these were H. pylori PCR positive. Six of the 21 (29% were resistant to CLA and eight to FLQ (42%, while two gave invalid FLQ resistance results. Conclusion. Stool is a possible specimen for the GenoType HelicoDR test for rapid detection of H. pylori and drug resistance. In Uganda, Helicobacter pylori is highly resistant to CLA and FLQ.

  18. An unusual type of familial lipodystrophy

    DEFF Research Database (Denmark)

    Johansen, K; Rasmussen, M H; Kjems, L L

    1995-01-01

    A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance......, whereas the daughter had normal glucose tolerance and normal insulin sensitivity. Both had metabolic rates about 30% above normal levels, but normal thyroid function and plasma lipids....

  19. Predicting Child Abuse Potential across Family Types.

    Science.gov (United States)

    Burrell, Brenda; And Others

    1994-01-01

    This study examined whether stress, family resources, and social support are correlates of the child abuse potential of mothers. Stress in family functioning appeared to be an important predictor of child abuse potential. Mothers of children with disabilities may be more inclined than other mothers to have elevated child abuse potential.…

  20. Effect of Family Type on Secondary School Students\\' Performance ...

    African Journals Online (AJOL)

    This study investigated the effect of family type on Secondary School students\\' performance in physics in Ilorin metropolis. The sample comprised one hundred Senior Secondary II students from four schools in Ilorin metropolis. The instrument for the study titled \\"Effect of Family type on Students\\' Performance in Physics ...

  1. Type 2 Gaucher's disease in a Malian family

    African Journals Online (AJOL)

    cases of no-neuropathic forms from South. Africa [5,6,7,8]. To our knowledge, the type. 2 neuropathic form of Gaucher's disease has never been described in a black African family. We report here the first case of Type. 2 Gaucher's disease from a Malian family. Case Report. Observation 2305/98 B: Female, 8 months of.

  2. Relationship between parenting style, family type, personality ...

    African Journals Online (AJOL)

    self esteem, need for achievement, locus of control, sense of competence and academic achievement scores; that the personality variables would predict academic achievement of the participants; and that young people from families where authoritative parenting was practiced would report higher levels of the personality ...

  3. Type A radioactive liquid sample packaging family

    International Nuclear Information System (INIS)

    Edwards, W.S.

    1995-11-01

    Westinghouse Hanford Company (WHC) has developed two packagings that can be used to ship Type A quantities of radioactive liquids. WHC designed these packagings to take advantage of commercially available items where feasible to reduce the overall packaging cost. The Hedgehog packaging can ship up to one liter of Type A radioactive liquid with no shielding and 15 cm of distance between the liquid and the package exterior, or 30 ml of liquid with 3.8 cm of stainless steel shielding and 19 cm of distance between the liquid and the package exterior. The One Liter Shipper can ship up to one liter of Type A radioactive liquid that does not require shielding

  4. Geriatric Family Support and Diabetic Type-2 Glycemic Control

    Directory of Open Access Journals (Sweden)

    Shiva Heidari

    2008-07-01

    Full Text Available Objectives: As the most part of geriatric (65 years and older diabetic care is given at home, family support has an important role in their blood sugar level control care. This study aimed to assess the relationship between family support and blood sugar level control in such elderly suffering type-2 diabetes. Methods & Materials: Via descriptive-correlative study, one hundred fifty geriatric patients with type-2 diabetes, who referred to Institute of Endocrinology and Metabolism in Iran University of Medical Sciences were selected. Samplings based on nonrandomized and convenience. The questionnaire consisted of three sections: demographic data glucose-labeled hemoglobin (HbA1C and received-perceived family support by applying the standard questionnaire of "Diabetes Social Support-Family Version" format. Data were analyzed by SPSS version 15 by using Chi-square and Pierson Tests. Results: Results showed a significant relationship between family support and glycemic control (r=-0.56, P<0.0001. Also there were significant relationships between family support, gender and marital status (P<0.0001. There were also significant relationships between glycemic control and marital status (P=0.02, financial status (P=0.04 and educational level (P=0.05. Conclusion: Findings of this research added further evidence about the impact of family support on the health of older adults with diabetes. These findings suggest using family centered nursing interventions and collaboration of family members in care of the elderly with type-2 diabetes.

  5. Geographic Region, Size, and Program Type in Family Practice Residencies.

    Science.gov (United States)

    Berg, Jolene K.; Garrard, Judith

    1981-01-01

    Research on residency education in family practice is discussed. Programmatic variables are examined: geographic region, size, and type of program. Definitions of these variables are provided, the current distribution of family practice residency programs across each of these variables is described, and data for use by other researchers is…

  6. Bouncing forward: families living with a type I diabetic child

    African Journals Online (AJOL)

    2009-12-08

    Dec 8, 2009 ... A family's initial reaction to the diagnosis of type I diabetes is often compared to that of the grieving process.4 In addition to the new challenges of care that families have to face, they also have to adapt to the crisis quite rapidly, as people living with diabetes are at increased risk of developing medical.

  7. Language Transmission Revisited: Family Type, Linguistic Environment and Language Attitudes

    Science.gov (United States)

    Schupbach, Doris

    2009-01-01

    This article revisits factors in intergenerational language maintenance and shift within the family. It does so through an in-depth analysis of what 14 migrants to Australia from German-speaking Switzerland reported in written life stories and subsequent life story interviews. The participants represent four family types and a wide age range, and…

  8. Chudnovsky-Ramanujan Type Formulae for the Legendre Family

    OpenAIRE

    Chen, Imin; Glebov, Gleb

    2017-01-01

    We apply the method established in our previous work to derive a Chudnovsky-Ramanujan type formula for the Legendre family of elliptic curves. As a result, we prove two identities for $1/\\pi$ in terms of hypergeometric functions.

  9. Involvement of family members in life with type 2 diabetes

    DEFF Research Database (Denmark)

    Grabowski, Dan; Andersen, Tue Helms; Varming, Annemarie

    2017-01-01

    OBJECTIVES: Family involvement plays a key role in diabetes management. Problems and challenges related to type 2-diabetes often affect the whole family, and relatives are at increased risk of developing diabetes themselves. We highlight these issues in our objectives: (1) to uncover specific...... family problems associated with mutual involvement in life with type 2-diabetes and (2) to analytically look at ways of approaching these problems in healthcare settings. METHODS: Qualitative data were gathered in participatory problem assessment workshops. The data were analysed in three rounds using...... radical hermeneutics. RESULTS: Problems were categorized in six domains: knowledge, communication, support, everyday life, roles and worries. The final cross-analysis focusing on the link between family identity and healthcare authenticity provided information on how the six domains can be approached...

  10. What's for dinner? Types of food served at family dinner differ across parent and family characteristics.

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A; Eisenberg, Marla E; Berge, Jerica

    2014-01-01

    To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors and meal-specific variables. A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009-2010. Homes of families with adolescents in Minneapolis/St. Paul urban area, MN, USA. Participants included 1923 parents/guardians (90·8% female; 68·5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times per week. Variables from within the sociodemographic domain (low educational attainment) psychosocial domain (high work-life stress, depressive symptoms, low family functioning) and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals.

  11. Confirmation of novel type 1 diabetes risk loci in families

    DEFF Research Database (Denmark)

    Cooper, J D; Howson, J M M; Smyth, D

    2012-01-01

    Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we, th......, the Type 1 Diabetes Genetics Consortium (T1DGC), aimed to exclude the possibility that any of the 18 loci were false-positives due to population stratification by significantly increasing the statistical power of our family study.......Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we...

  12. Understanding type 2 diabetes: including the family member's perspective.

    LENUS (Irish Health Repository)

    White, Patricia

    2012-02-01

    PURPOSE: The purpose of this study was to examine the relationship between psychological and social factors and diabetes outcomes in people with type 2 diabetes and their family members. METHODS: A total of 153 patients with type 2 diabetes were assessed at a diabetes outpatient clinic and postal questionnaires were sent to nominated family members. The measures examined were diabetes knowledge, social support, well-being, and illness perceptions. RESULTS: When compared with those with diabetes, family members reported lower positive well-being and lower levels of satisfaction with support. They also perceived diabetes as a more cyclical illness, which was controlled more by treatment than by the individual. Family members also reported that the person with diabetes was more emotionally distressed and knew more about diabetes than the patient had actually reported himself or herself. There were no differences between the family members of those in good or poor glycaemic control. CONCLUSIONS: This study reinforces the importance of understanding social context and illness beliefs in diabetes management. It also highlights the potential for including family members in discussions and education about diabetes management.

  13. On a family of Bessel type functions: Estimations, series, overconvergence

    Science.gov (United States)

    Paneva-Konovska, Jordanka

    2017-12-01

    A family of the Bessel-Maitland functions are considered in this paper and some useful estimations are obtained for them. Series defined by means of these functions are considered and their behaviour on the boundaries of the convergence domains is discussed. Using the obtained estimations, necessary and sufficient conditions for the series overconvergence, as well as Hadamard type theorem are proposed.

  14. HIDRÓGENO DEL MAR

    Directory of Open Access Journals (Sweden)

    Rafael Sánchez-Dirzo

    2012-01-01

    Full Text Available El hidrógeno es un combustible capaz de sustituir a los hidrocarburos y al uranio para obtener, particularmente, energía eléctrica. Además de ser sustentable, el hidrógeno tiene la ventaja fundamental de ser reciclable. El proceso para su obtención más simple y que se conoce desde hace más de doscientos años se llama electrólisis del agua, esta técnica enfrenta el problema que su operación industrial mediante electricidad generada por sistemas fotovoltaicos, eólicos y océano-motrices, no está totalmente resuelta. Si bien los avances de las tecnologías solares y eólicas están bien documentados, las tecnologías océano-motrices empiezan a despuntar en sus fundamentos, conceptos y prototipos: en los recursos energéticos de los mares, islas y costas, se encuentran muchas de las soluciones al actual dilema de la energía de nuestra civilización. México, en especial, con doce mil kilómetros de costas, más de mil islas y abundantes recursos solares y eólicos, debe incluir a sus mares en sus proyectos de desarrollo energético. Este trabajo revisa propuestas de ingeniería que permitirían hibridar en costas a las fuentes de energía renovable y sintetiza soluciones planteadas de manera dispersa en la bibliografía internacional al problema fundamental de las energías alternas: su almacenamiento masivo, el cual podría hacerse en forma de hidrógeno.

  15. Exploring Types of Family Environments in Youth with Eating Disorders.

    Science.gov (United States)

    Darrow, Sabrina M; Accurso, Erin C; Nauman, Emily R; Goldschmidt, Andrea B; Le Grange, Daniel

    2017-09-01

    While many studies have explored the relationship between different eating disorder diagnoses and the familial social environment, current evidence does not support associations between distinct family interaction patterns (e.g. high enmeshment) and particular diagnoses (e.g. anorexia nervosa). The current study seeks to move beyond the current literature to explore whether empirically derived subtypes of family environment are associated with clinical features within a transdiagnostic sample of youth seeking treatment for eating disorders (n = 123). Latent class modelling of the Family Environment Scale identified three classes (i.e. different Family Environment Scale profiles): (1) Control-Oriented; (2) System Maintenance-Oriented; and (3) Conflict-Oriented. Data are presented to characterize the classes (e.g. age, gender, rates of different eating disorders, severity of eating disorder pathology and rates of comorbid disorders). These preliminary results suggest that family interaction types may help personalize treatment for eating disorders and encourage future research to guide such efforts. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association.

  16. Familial hemiplegic migraine type 1 associated with parkinsonism

    DEFF Research Database (Denmark)

    Bruun, Marie; Hjermind, Lena Elisabeth; Thomsen, Carsten

    2015-01-01

    parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission...... Parkinson's disease remains unanswered.......Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously...

  17. The type 2 family: a setting for development and treatment of adolescent type 2 diabetes mellitus.

    Science.gov (United States)

    Pinhas-Hamiel, O; Standiford, D; Hamiel, D; Dolan, L M; Cohen, R; Zeitler, P S

    1999-10-01

    To identify physical, behavioral, and environmental features of adolescents (aged 11-17 years) with type 2 diabetes mellitus and their families to define the involvement of known risk factors and to define a profile of at-risk individuals. A total of 42 subjects from 11 families with an adolescent in whom type 2 diabetes was previously diagnosed participated. All subjects underwent anthropometric measurement and completed food frequency and eating disorder questionnaires, and were classified according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. In addition, laboratory tests to determine levels of hemoglobin A1c, fasting glucose, C peptide, insulin, and proinsulin were performed. Type 2 diabetes had been diagnosed in 5 of 11 mothers and 4 of 11 fathers before the study. Type 2 diabetes was diagnosed in 3 of the remaining 7 fathers during the study. In 3 families, both parents were affected with type 2 diabetes. As a group, participants were obese, with a body mass index higher than the 95th percentile for probands and fathers, and higher than the 85th percentile for mothers and siblings. The sum of skin fold measurements was above the 95th percentile for the probands, their siblings, and the parents. All groups had high fat intake and low fiber intake. None of the subjects participated in a structured or routine exercise program, and most reported no regular physical activity. Three of the probands met the criteria for binge-eating disorder, and 6 additional patients had notable characteristics of the disorder. Mothers affected with type 2 diabetes had markedly abnormal hemoglobin A1c levels, indicating poor control. There were no group differences in fasting concentrations of insulin, proinsulin, or C peptide. However, a third of the mothers with type 2 diabetes, and all but 1 of the siblings, had evidence of insulin resistance. Adolescents in whom type 2 diabetes has been diagnosed, as well as their first-degree family members

  18. Genetic heterogeneity of usher syndrome type 1 in French families

    Energy Technology Data Exchange (ETDEWEB)

    Larget-Piet, D.; Gerber, S.; Rozet, J.M. (INSERM, Paris (France)); Bonneau, D. (Clinique Medicale Infantile, Poitiers (France)); Marc, S.; Weissenbach, J. (Genethon, Evry (France)); Ghazi, I.; Dufier, J.L. (Hopital Laeennec, Paris (France)); David, A. (Service de Pediatrie III, Nantes (France)); Bitoun, P. (Service de Pediatrie, Bondy (France)) (and others)

    1994-05-01

    Usher syndrome type 1 (US1) is an autosomal recessive disease characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction. Three localizations have been described in US1: USH1A, 14q32; USH1B, 11q13.5; and USH1C, 11p15. Studying a series of 33 affected individuals belonging to 20 US1 pedigrees of French ancestry, the authors found that none of the three localizations accounted for all US1 families in the series. However, when the sample was split into two groups according to the geographic origin of the probands' grandparents, they were able to confirm the presence of a gene for US1 on chromosome 14q32 (USH1A) in 9 families originating from the Poitou region in Western France. Moreover, they refined the genetic mapping of USH1A by showing that the disease gene maps to the D14S13 locus, within the genetic interval defined by loci D14S78 and D14S250 (location score in log base 10 = 4.90). Consistent with this, nonsignificant lod score values for linkage to either USH1B or USH1C were found in this group. With regard to US1 families of other geographic origin (Normandy and Northern France, 11 families), nonsignificant lod scores for linkage to chromosome 11q13.5 were observed. However, the HOMOG test suggested that USH1B might account for the disease in 9/11 families in the series (families 10-19), the latter two families possibly being accounted for by USH1C (maximum likelihood for heterogeneity = 7.91 in lnL; heterogeneity versus homogeneity, P = 0.01; heterogeneity versus nonlinkage, P < 0.01). The present study supports the view that Usher syndrome type 1 is a genetically heterogeneous condition that is caused by at least three genes and possibly many more. 16 refs., 4 figs., 3 tabs.

  19. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

    Science.gov (United States)

    Oki, Ryoko; Yamada, Kisaburo; Nakano, Satoko; Kimoto, Kenichi; Yamamoto, Ken; Kondo, Hiroyuki; Kubota, Toshiaki

    2017-02-01

    We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.

  20. The relationship between parental depressive symptoms, family type and adolescent functioning

    NARCIS (Netherlands)

    Sieh, D.S.; Visser-Meily, J.M.A.; Meijer, A.M.

    2013-01-01

    It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship

  1. Personality types of family practice residents as measured by the Myers-Briggs type indicator.

    Science.gov (United States)

    Harris, D L; Ebbert, P

    1985-01-01

    This study was initiated to test the hypothesis that individuals currently choosing family practice as a career are likely to have different personality types than those who previously pursued general practice. Incoming residents to the University of Utah Family Practice Residency Program were compared to a group of private primary care physicians serving rural areas. Personality types were determined by administering the Myers-Briggs Type Indicator to both groups. Results showed that the current resident group differed significantly from the primary care physician group and that the residents' personality types were similar to personality types of faculty in other studies. This raises the concern that many family practice residents may not choose to practice in underserved areas. Further studies need to follow personality types through medical school and residency training and into practice to help determine which prospective physicians are likely to choose a primary care career and a rural practice. This information may be useful in health manpower planning and in examining admissions policies of medical schools and residencies.

  2. Associations of family meal frequency with family meal habits and meal preparation characteristics among families of youth with type 1 diabetes.

    Science.gov (United States)

    Kornides, M L; Nansel, T R; Quick, V; Haynie, D L; Lipsky, L M; Laffel, L M B; Mehta, S N

    2014-05-01

    While benefits of family mealtimes, such as improved dietary quality and increased family communication, have been well-documented in the general population, less is known about family meal habits that contribute to more frequent family meals in youth with type 1 diabetes. This cross-sectional study surveyed 282 youth ages 8-18 years with type 1 diabetes and their parents on measures regarding diabetes-related and dietary behaviours. T-tests determined significant differences in youth's diet quality, adherence to diabetes management and glycaemic control between those with and without regular family meals (defined as ≥ 5 meals per week). Logistic regression analyses determined unadjusted and adjusted associations of age, socio-demographics, family meal habits, and family meal preparation characteristics with regular family meals. 57% of parents reported having regular family meals. Families with regular family meals had significantly better diet quality as measured by the Healthy Eating Index (P family meals were each associated with regular family meals (P family meals, while convenience and fast foods were negatively associated (P Families in which at least one parent worked part-time or stayed at home were significantly more likely to have regular family meals than families in which both parents worked full-time (P family mealtimes (P family meals; adjusting for parent work status and other family meal habits. Strategies for promoting families meals should not only highlight the benefits of family meals, but also facilitate parents' skills for and barriers to home-prepared meals. © 2013 John Wiley & Sons Ltd.

  3. Clinical Guide for Family Physicians to Manage Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Seyed Esmaeil Managheb

    2015-10-01

    Full Text Available Compiling clinical guidelines is one of the requirements of family physician plan and classification of health care services.1 The high prevalence of type 2 diabetes can easily be seen in general practice so that 2.5% of referrals to general practitioners are due to diabetes. More than half of the patients with Type 2 diabetes are left undiagnosed and most of them suffer from its complications at the time of diagnosis. For example, 6.2% of patients suffer from diabetic retinopathy at the time of diagnosis.2 Most patients diagnosed with diabetes take more than one type of medication to treat the complications; about 60% take only oral medications, and 14 percent take oral medications and insulin.3 Although the principles of care for people with Type 2 diabetes is well known, there is a gap between the quality of care in general practice and optimal care so that up to 50% of patients’ condition are weakly controlled.4 Chronic care model for patients with chronic diseases explains the necessary measures to improve the care of people with chronic diseases. These elements include supporting disease management by the patients themselves, patient care, and support teams. Consultation and training are often done in general practice while it is usually a brief consultation about weight, medication or exercise. There is little evidence that mere printed texts are effective in controlling the disease. Extensive training programs are designed to develop self-management skills for diabetes control.4 The implementation of clinical guidelines in medical practice is a challenging task. But, a number of evidences have been shown to accelerate effective clinical guideline implementation and care improvement.5 Management of diabetes mellitus type 2 is shown in Figure 1.

  4. Mediation of Family Alcoholism Risk by Religious Affiliation Types*

    Science.gov (United States)

    Haber, Jon Randolph; Jacob, Theodore

    2009-01-01

    Objective: Religious affiliation is inversely associated with alcohol dependence (AD). Our previous findings indicated that when a religious affiliation differentiated itself from cultural norms, then high-risk adolescents (those having parents with alcoholism history) raised with these affiliations exhibited fewer AD symptoms compared with adolescents of other religious affiliations and nonreligious adolescents. The first of two studies reported here provides a needed replication of our previous findings for childhood religious affiliation using a different sample, and the second study extends examination to current religious affiliation. Method: A national sample of male and female adolescents/young adults (N = 1,329; mean age = 19.6 years) was selected who were the offspring of members of the Vietnam Era Twin Registry. Parental alcoholism, religious affiliation types, and their interactions were examined as predictors of offspring AD symptoms. Results: (1) Offspring reared with a differentiating religious affiliation during childhood exhibited significantly fewer AD symptoms as young adults; (2) offspring with current differentiating religious affiliation also exhibited fewer AD symptoms; this main effect was not weakened by adding other measures of religiousness to the model; (3) differentiating religious affiliation was correlated with both family alcoholism risk and offspring outcome, and removed the association between family alcoholism risk and offspring outcome, thus indicating that differentiating religious affiliation was at least a partial mediator of the association between family AD history risk and offspring AD outcome. Conclusions: Current results indicate that religious differentiation is an inverse mediator of alcoholism risk for offspring with or without parental AD history and regardless of the influence of other religion variables. Results replicated our previous report on religious upbringing between ages 6 and 13 years and indicated an even

  5. Family Therapy of the Moderate Type of Parental Alienation Syndrome.

    Science.gov (United States)

    Gardner, Richard A.

    1999-01-01

    Modification of traditional family therapy approaches are warranted if there is to be any chance of success in the treatment of Parental Alienation Syndrome families. Especially important is the full support of the court. Describes the special family therapeutic techniques warranted in the treatment of families in which the Parental Alienation…

  6. Spinocerebellar ataxia type 7: Report of an Indian family

    Directory of Open Access Journals (Sweden)

    Gurusidheshwar M Wali

    2013-01-01

    Full Text Available Spinocerebellar ataxia type 7 (SCA7 is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries . The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.

  7. The impact of migration on family solidarity types

    NARCIS (Netherlands)

    Baykara-Krumme, H.; Fokkema, T.

    2017-01-01

    This paper aims to expand knowledge on the effects of international migration on parent-adult child relationships. We develop a typology of families, include non-migrant families in the country of origin for comparison, and consider transnational families. Analyses are based on the Turkish 2000

  8. The Distinction of 'Psychosomatogenic Family Types' Based on Parents' Self Reported Questionnaire Information : A Cluster Analysis

    NARCIS (Netherlands)

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

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of

  9. Research of antigen and antibodies against Porcine Circovirus Type - 2 in pigs with and without postweaning multsystemic wasting syndrome from commercial farms of Minas Gerais StatePesquisa de antígenos e anticorpos contra Circovírus Suíno II em suínos com e sem sintomatologia da síndrome multisistêmica do definhamento em granjas comerciais mineiras

    Directory of Open Access Journals (Sweden)

    Eduardo Gonçalves Esteves

    2011-10-01

    Full Text Available Porcine Circovirus Type 2 (PCV-2 is a non-enveloped circular single stranded DNA virus classified in the Circoviridae family related to post weaning multi systemic wasting syndrome (PMWS in piglets. Immune-Histochemical (IHC techniques are applied to detected PCV-2 antigen in the animal tissue injuries. Although, asymptomatic or sub clinic PCV-2 infected pigs could disseminate the virus in the flock. Serologic survey on apparently health pigs could suggest the virus ingression risk. In this work, antigens and antibodies against PCVS-2 in swine from commercial farms of seven and eight mesorregions of Minas Gerais State (MG were investigated. 32 pigs with ages from five to eleven weeks which presented SMDS clinical signs were submitted to necropsy. PCV-2 antigens were investigated either from sacrificed pigs (Group I and diagnosis demand samples (Group II by IHC. 7,60% and more than 60% of the first and second groups, respectively, were positive for viral antigen. In both of them, intense marking of macrophages and histiocytes, especially in the lymph nodes and lung, evidenced antigens to CVS-2. In parallel, Immunoperoxidase Monolayer Assay (IPMA was applied to antibody against PCV-2 screened in 955 pigs from 35 complete cycle commercial farms from same mesorregions. All pig flocks (100% presented positive animals (confidence level 90% to 100% and the frequency of reacting pigs varied 96.6% (confidence level 94,7% to 98,6%. PCV-2 antibody titers ranged 1:320 (medium to 1:10.240 (high. The results suggest that 2.66% and 9% of pigs from Triângulo Mineiro and Zona da Mata regions respectively, would be able to develop clinical SMDS and that percentage reach 3.35% in the total serum.Circovirus Suíno Tipo-2 (CSV-2 é um vírus não-envelopado, DNA fita única circular, classificado na família de Circoviridae, relacionado à Síndrome Multisistêmica do Definhamento de Suínos (SMDS de leitões. A técnica de Imuno-Histoquímica (IHQ é aplicada na

  10. Types of support to families of children with disabilities and their influence on family quality of life.

    Science.gov (United States)

    Araújo, Clarissa Altina Cunha de; Paz-Lourido, Berta; Gelabert, Sebastià Verger

    2016-10-01

    Different types of supports to families are among the aspects that contribute to family quality of life. This study aims to identify the types of supports that families of children with disabilities, users of early intervention services, consider relevant and how public administration influences the quality of this support. This is a qualitative study based on a critical social paradigm. Sixteen mothers and four fathers were interviewed and their contributions were analyzed using discourse analysis. The importance of family support and networks of parents of children with disabilities were highlighted. The role of the supports by health professionals is also crucial and, therefore, cuts in public health and social services have exacerbated the inequity in health. In practice this is highlighted in relation to those who can and the ones who cannot afford additional services. Other approaches in the support to families are suggested.

  11. What’s for dinner? Types of food served at family dinner differ across parent and family characteristics

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A.; Eisenberg, Marla E.; Berge, Jerica

    2013-01-01

    Objective To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors, and meal-specific variables. Design A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009–2010. Setting Homes of families with adolescents in Minneapolis/St Paul urban area. Subjects Participants included 1,923 parents/guardians (90.8% female; 68.5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Results Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times a week. Variables from within the sociodemographic domain (low educational attainment); psychosocial domain (high work-life stress, depressive symptoms, low family functioning); and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers, and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. Conclusions There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals. PMID:23083836

  12. Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History

    Science.gov (United States)

    Giordimaina, Alicia M.; Sheldon, Jane P.; Kiedrowski, Lesli A.; Jayaratne, Toby Epstein

    2015-01-01

    Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey,…

  13. Early Family System Types Predict Children's Emotional Attention Biases at School Age

    Science.gov (United States)

    Lindblom, Jallu; Peltola, Mikko J.; Vänskä, Mervi; Hietanen, Jari K.; Laakso, Anu; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena

    2017-01-01

    The family environment shapes children's social information processing and emotion regulation. Yet, the long-term effects of early family systems have rarely been studied. This study investigated how family system types predict children's attentional biases toward facial expressions at the age of 10 years. The participants were 79 children from…

  14. Family and Friends: Which Types of Personal Relationships Go Together in a Network?

    NARCIS (Netherlands)

    Rözer, J.; Mollenhorst, G.; Poortman, A.R.

    2015-01-01

    We examine the link between family and personal networks. Using arguments about meeting opportunities, competition and social influence, we hypothesise how the presence of specific types of family members (i.e., a partner, children, parents and siblings) and non-family members (i.e., friends,

  15. Family and Friends : Which Types of Personal Relationships Go Together in a Network?

    NARCIS (Netherlands)

    Rözer, Jesper; Mollenhorst, Gerald; Poortman, Anne Rigt

    We examine the link between family and personal networks. Using arguments about meeting opportunities, competition and social influence, we hypothesise how the presence of specific types of family members (i.e., a partner, children, parents and siblings) and non-family members (i.e., friends,

  16. The concurrent and longitudinal effects of child disability types and health on family experiences.

    Science.gov (United States)

    Wei, Xin; Yu, Jennifer W

    2012-01-01

    This study examines the concurrent and longitudinal effects of children's disability types and health on family experiences, namely, parent divorce, mother's unemployment, and receipt of social welfare. The parent and school staff survey data for 1999 and 2004 from the Special Education Elementary Longitudinal Study were analyzed, when the ages of children with disabilities ranged from 6 to 17. Weighted logistic regressions using Taylor Series Linearization were used to model the concurrent associations and longitudinal association between children's disability types and health and family experiences. Models were adjusted to account for other children in the family with disabilities, sociodemographic characteristics, and other family experiences variables. Family experiences varied significantly by disability type in 1999. Compared with families of children with learning disabilities, parents of children with emotional disturbances were 81% more likely to get divorced, and 2.5 times more likely to receive welfare from 1999 to 2004. Mothers of children with a secondary disability were 81% more likely to be unemployed than those of children without a secondary disability. These findings indicate that specific disability types in children have an influence on family experience, and that some of those influences may persist over time. Families of children with emotional disturbances appear to be particularly at risk for negative family experiences. Clinicians, educators, and policymakers should be aware of the complex needs of families of children with disabilities when considering the types of services and supports provided to both children with disabilities and their families.

  17. Circumplex model of marital and family system: I. Cohesion and adaptability dimensions, family types, and clinical applications.

    Science.gov (United States)

    Olson, D H; Sprenkle, D H; Russell, C S

    1979-03-01

    The conceptual clustering of numerous concepts from family therapy and other social science fields reveals two significant dimensions of family behavior, cohesion and adaptability. These two dimensions are placed into a circumplex model that is used to identify 16 types of marital and family systems. The model proposes that a balanced level of both cohesion and adaptability is the most functional to marital and family development. It postulates the need for a balance on the cohesion dimension between too much closeness (which leads to enmeshed systems) and too little closeness (which leads to disengaged systems). There also needs to be a balance on the adaptability dimension between too much change (which leads to chaotic systems) and too little change (which leads to rigid systems). The model was developed as a tool for clinical diagnosis and for specifying treatment goals with couples and families.

  18. Depressive Symptoms, Family Functioning and Quality of Life in Chinese Patients with Type 2 Diabetes.

    Science.gov (United States)

    Wang, Jikun; He, Ming; Zhao, Xudong

    2015-12-01

    Patients with type 2 diabetes mellitus often have depression or depressive symptoms, impaired family functioning and poor quality of life. This study aimed to examine relationships among psychological variables, including depressive symptoms, family functioning and quality of life, for Chinese patients with type 2 diabetes and to explore the influencing factors on quality of life for these patients. In this cross-sectional study, 257 patients with type 2 diabetes and 259 nondiabetic community controls completed the Beck Depression Inventory, the Family Assessment Device, and the Quality of Life Enjoyment and Satisfaction Questionnaire-Short Form. Patients with type 2 diabetes reported significant family impairment in the dimension of affective involvement compared with nondiabetic community controls (pFamily Assessment Device scores were negatively associated with quality of life scores among patients with type 2 diabetes. Age, depressive symptoms, duration of diabetes, communication, affective involvement and behavioural control were associated with quality of life in patients with type 2 diabetes. The results indicate that having type 2 diabetes was associated with some difficulties with family functioning and that poor family functioning was associated with a poorer quality of life. Additional factors, including older age, depressive symptoms, duration of diabetes, and some dimensions of family functioning, were found to be associated with quality of life in Chinese individuals with type 2 diabetes. Copyright © 2015 Canadian Diabetes Association. Published by Elsevier Inc. All rights reserved.

  19. The comparison of family types in fairy tales by brothers Grimm and H. C. Andersen

    OpenAIRE

    Šček, Marjeta

    2014-01-01

    The present thesis entitled The Comparison of Family Types in Fairy Tales by Brothers Grimm and H. C. Andersen consists of two parts: the theoretical and the empirical part. The first part is a brief summary of opuses and biographies of Jacob and Wilhelm Grimm and Hans Christian Andersen, followed by a section describing several different definitions of families and family types. The second part is an analysis of ten fairy tales by brothers Grimm: The Frog King, or Iron Henry, Little Brother ...

  20. Caracterização fenotípica e molecular de genitores de feijão tipo carioca quanto à resistência a patógenos Phenotypic and molecular characterization of genitors of carioca-type common bean regarding their resistance to pathogens

    Directory of Open Access Journals (Sweden)

    Carlos Lasaro Pereira de Melo

    2008-04-01

    Full Text Available O objetivo deste estudo foi a caracterização fenotípica e molecular de 31 genótipos de feijão do tipo carioca, quanto à resistência aos patógenos da antracnose, ferrugem e mancha-angular. Foram realizadas inoculações com 13 patótipos de Colletotrichum lindemuthianum, dois de Uromyces appendiculatus e sete de Pseudocercospora griseola. Na caracterização molecular, foram utilizados cinco marcadores moleculares previamente identificados, ligados a diferentes alelos de resistência aos patógenos. Sete genótipos apresentaram resistência a 12 patótipos de C. lindemuthianum. Nove genótipos apresentaram resistência a cinco patótipos de P. griseola. Dez genótipos foram resistentes aos patótipos de U. appendiculatus. As linhagens VC 2, VC 3 e VC 5, além da Rudá-R (linhagem piramidada com cinco genes que conferem resistência a alguns patótipos de antracnose, ferrugem e mancha-angular, foram as que se destacaram quanto à resistência múltipla aos patógenos acima citados. Foi detectado polimorfismo molecular entre a maioria dos genótipos com a Rudá-R, o que indica a possibilidade de uso dos marcadores moleculares SCARF10, SCARY20, SCARAZ20, SCARH13 e OPX11.The present study aimed at the phenotypic and molecular characterization of 31 genotypes of the carioca-type common bean regarding the resistance to anthracnose, rust and angular leaf spot (ALS pathogens. Thirteen pathotypes of Colletotrichum lindemuthianum, two of Uromyces appendiculatus and seven of Pseudocercospora griseola were inoculated. In the molecular characterization, five molecular markers, identified in advance, and linked to the different alleles of pathogens' resistance, were used. Seven genotypes showed resistance to 12 pathotypes of C. lindemuthianum. Nine genotypes presented resistance to five pathotypes of P. griseola. Ten genotypes were resistant to the pathotypes of U. appendiculatus. The lines VC 2, VC 3 and VC 5, besides Rudá-R (line pyramided with five

  1. Tension type headaches: a review | Magazi | South African Family ...

    African Journals Online (AJOL)

    South African Family Practice. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 57, No 1 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

  2. Writing DNA with GenoCAD.

    Science.gov (United States)

    Czar, Michael J; Cai, Yizhi; Peccoud, Jean

    2009-07-01

    Chemical synthesis of custom DNA made to order calls for software streamlining the design of synthetic DNA sequences. GenoCAD (www.genocad.org) is a free web-based application to design protein expression vectors, artificial gene networks and other genetic constructs composed of multiple functional blocks called genetic parts. By capturing design strategies in grammatical models of DNA sequences, GenoCAD guides the user through the design process. By successively clicking on icons representing structural features or actual genetic parts, complex constructs composed of dozens of functional blocks can be designed in a matter of minutes. GenoCAD automatically derives the construct sequence from its comprehensive libraries of genetic parts. Upon completion of the design process, users can download the sequence for synthesis or further analysis. Users who elect to create a personal account on the system can customize their workspace by creating their own parts libraries, adding new parts to the libraries, or reusing designs to quickly generate sets of related constructs.

  3. Validation of a model of family caregiver communication types and related caregiver outcomes.

    Science.gov (United States)

    Wittenberg, Elaine; Kravits, Kate; Goldsmith, Joy; Ferrell, Betty; Fujinami, Rebecca

    2017-02-01

    Caring for the family is included as one of the eight domains of quality palliative care, calling attention to the importance of the family system and family communications about cancer during care and treatment of the disease. Previously, a model of family caregiver communication defined four caregiver communication types-Manager, Carrier, Partner, Lone-each with a unique communication pattern. The purpose of the present study was to extend the model of family caregiver communication in cancer care to further understand the impact of family communication burden on caregiving outcomes. This mixed-method study employed fieldnotes from a family caregiver intervention focused on quality of life and self-reported caregiver communication items to identify a specific family caregiver type. Caregiver types were then analyzed using outcome measures on psychological distress, skills preparedness, family inventory of needs, and quality-of-life domains. Corroboration between fieldnotes and self-reported communication for caregivers (n = 21, 16 women, mean age of 53 years) revealed a definitive classification of the four caregiver types (Manager = 6, Carrier = 5, Partner = 6, Lone = 4). Mean scores on self-reported communication items documented different communication patterns congruent with the theoretical framework of the model. Variation in caregiver outcomes measures confirmed the model of family caregiver communication types. Partner and Lone caregivers reported the lowest psychological distress, with Carrier caregivers feeling least prepared and Manager caregivers reporting the lowest physical quality of life. This study illustrates the impact of family communication on caregiving and increases our knowledge and understanding about the role of communication in caregiver burden. The research provides the first evidence-based validation for a family caregiver communication typology and its relationship to caregiver outcomes. Future research is needed to develop and test

  4. Family-Work Conflict and Type-E Personality as Stress Inducers in Married Female Nigerian University Administrators

    Science.gov (United States)

    Shobola, A. A.; Nwoha, P. C.

    2013-01-01

    This piece of article is culled from a larger study. The study investigated the relationship between family-work conflict, Type-E personality and stress in married female Nigerian University Administrators. The study adopted ex-post facto design. The sample consisted of 800 female administrators in the senior cadre of executive/administrative…

  5. The relationship between parental depressive symptoms, family type, and adolescent functioning.

    Directory of Open Access Journals (Sweden)

    Dominik Sebastian Sieh

    Full Text Available It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group. Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem. Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (p<.01 than the comparison group. Adolescents of single parents reported more internalizing problems (p<.01 and externalizing problems (p<.05 than children from the other family types. Parental depressive symptoms were strongly related to child report of stress (p<.001. Adolescents of depressed chronically ill parents were particularly vulnerable to internalizing problems (interaction effect, p<.05. Older children and girls, and especially older girls, displayed more internalizing problems and stress. It can be concluded that growing up with a chronically ill parent in a family with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined

  6. Family Care Responsibilities and Employment: Exploring the Impact of Type of Family Care on Work-Family and Family-Work Conflict

    Science.gov (United States)

    Stewart, Lisa M.

    2013-01-01

    This study compared work-family and family-work conflict for employed family caregivers with disability-related care responsibilities in contrast to employed family caregivers with typical care responsibilities. Using data from the 2002 National Study of the Changing Workforce, a population-based survey of the U.S. workforce, formal and informal…

  7. Family PArtners in Lifestyle Support (PALS): Family-Based Weight Loss for African American Adults with Type 2 Diabetes

    Science.gov (United States)

    Samuel-Hodge, Carmen D.; Holder-Cooper, Judith C.; Gizlice, Ziya; Davis, Gwendolyn; Steele, Sonia P.; Keyserling, Thomas C.; Kumanyika, Shiriki K.; Brantley, Phillip J.; Svetkey, Laura P.

    2016-01-01

    Objective To develop and test a family-centered behavioral weight loss intervention for African American adults with type 2 diabetes. Methods In this randomized trial, dyads consisting of African American adult with overweight or obesity and type 2 diabetes (index participant) paired with a family partner with overweight or obesity, but not diagnosed with diabetes, were assigned in a 2:1 ratio to a 20-week special intervention (SI) or delayed intervention (DI) control group. The primary outcome was weight loss among index participants at 20 weeks follow-up. Results One hundred-eight participants (54 dyads – 36 (SI) and 18 (DI) dyads) were enrolled: 81% females; mean age, 51 years; mean weight,103 kg; and mean BMI, 37 kg/m2. At post-intervention, 96 participants (89%) returned for follow-up measures. Among index participants, mean difference in weight loss between groups was −5.0 kg, pfamily interactions, and dietary, physical activity, and diabetes self-care behaviors. SI family partners also had significant weight loss (−3.9 kg (SI) vs. −1.0 kg (DI) p=0.02). Conclusions A family-centered, behavioral weight loss intervention led to clinically significant short-term weight loss among family dyads. PMID:27911049

  8. [Spinocerebellar ataxia type 8: the case of a Spanish family].

    Science.gov (United States)

    Mayo-Cabrero, D; Sánchez-Migallón, M; Cantarero, S; García-Ruiz Espiga, P J; Giménez-Pardo, A; Trujillo-Tiebas, M; Ayuso-García, C

    Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.

  9. Explaining Couple Cohesion in Different Types of Gay Families

    Science.gov (United States)

    van Eeden-Moorefield, Brad; Pasley, Kay; Crosbie-Burnett, Margaret; King, Erin

    2012-01-01

    This Internet-based study used data from a convenience sample of 176 gay men in current partnerships to examine differences in outness, cohesion, and relationship quality between three types of gay male couples: first cohabiting partnerships, repartnerships, and gay stepfamilies. Also, we tested whether relationship quality mediated the link…

  10. Tension type headaches: a review | Magazi | South African Family ...

    African Journals Online (AJOL)

    Headache disorders are a common condition affecting present-day societies worldwide. Headaches are classified by the International Headache Society as being either primary or secondary. Primary headaches are those without an underlying, physical cause, e.g. migraine, cluster and other benign-type headaches.

  11. Relationship between family support and quality of life of type-2 ...

    African Journals Online (AJOL)

    Materials and Methods: A cross-sectional study of 250 adult patients with type 2 diabetes mellitus was carried out over twenty (20) weeks. Respondents' family support was measured using Perceived Social Support – Family Scale {PSS- Fa}, while their quality of life was measured using the short version of the World Health ...

  12. Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus

    NARCIS (Netherlands)

    Besseling, Joost; Kastelein, John J. P.; Defesche, Joep C.; Hutten, Barbara A.; Hovingh, G. Kees

    2015-01-01

    IMPORTANCE Familial hypercholesterolemia is characterized by impaired uptake of cholesterol in peripheral tissues, including the liver and the pancreas. In contrast, statins increase the cellular cholesterol uptake and are associated with increased risk for type 2 diabetes mellitus. We hypothesize

  13. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  14. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  15. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

    OpenAIRE

    Zhang, Yong; Li, Hengfen; Zou, Shaohong

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the con...

  16. GenoGAM: genome-wide generalized additive models for ChIP-Seq analysis.

    Science.gov (United States)

    Stricker, Georg; Engelhardt, Alexander; Schulz, Daniel; Schmid, Matthias; Tresch, Achim; Gagneur, Julien

    2017-08-01

    Chromatin immunoprecipitation followed by deep sequencing (ChIP-Seq) is a widely used approach to study protein-DNA interactions. Often, the quantities of interest are the differential occupancies relative to controls, between genetic backgrounds, treatments, or combinations thereof. Current methods for differential occupancy of ChIP-Seq data rely however on binning or sliding window techniques, for which the choice of the window and bin sizes are subjective. Here, we present GenoGAM (Genome-wide Generalized Additive Model), which brings the well-established and flexible generalized additive models framework to genomic applications using a data parallelism strategy. We model ChIP-Seq read count frequencies as products of smooth functions along chromosomes. Smoothing parameters are objectively estimated from the data by cross-validation, eliminating ad hoc binning and windowing needed by current approaches. GenoGAM provides base-level and region-level significance testing for full factorial designs. Application to a ChIP-Seq dataset in yeast showed increased sensitivity over existing differential occupancy methods while controlling for type I error rate. By analyzing a set of DNA methylation data and illustrating an extension to a peak caller, we further demonstrate the potential of GenoGAM as a generic statistical modeling tool for genome-wide assays. Software is available from Bioconductor: https://www.bioconductor.org/packages/release/bioc/html/GenoGAM.html . gagneur@in.tum.de. Supplementary information is available at Bioinformatics online.

  17. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?

    DEFF Research Database (Denmark)

    Cameron, F.J.; Skinner, T.C.; Beaufort, C.E. de

    2008-01-01

    Aims To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods Adolescents with Type 1 diabetes aged 11-18 years, from 21 paediatric diabetes care centres, in 19 countries, and their parents were invited to participate....... Questionnaires were administered recording demographic data, details of insulin regimens, severe hypoglycaemic events and number of episodes of diabetic ketoacidosis. Adolescents completed the parental involvement scale from the Diabetes Quality of Life for Youth-Short Form (DQOLY-SF) and the Diabetes Family...... a questionnaire. Family demographic factors that were associated with metabolic outcomes included: parents living together (t = 4.1; P

  18. Family types and communication with parents: A comparison of youth at different identity levels.

    Science.gov (United States)

    Bhushan, R; Shirali, K A

    1992-12-01

    Recent theory views adolescent behavior as nested in an ongoing system of family relationships. In keeping with this focus, differences in family functioning of high vs. low identity achievement youth were examined and variables to account for differing identity levels were explored. However, the hypothesized relationship (Circumplex Model) between family type and communication was also examined. Subjects were 411 male students, 18-24 years of age, belonging to intact nuclear middle-class homes, who resided with parents in urban areas. Measures used were the Identity Achievement Scale, Family Adaptability and Cohesion Evaluation Scale, and the Parent-Adolescent Communication Scale. Results supported an association between balanced family type and effective communication (p≤.001). Significant differences in the family types were found (p≤.001), with high identity subjects belonging to balanced families, experiencing more openness (p≤.01) and less problems (p≤.01) in communicating with parents. Openness with father, mother, and problems with father emerged as significant discriminants. There are important implications for counselling and therapy with youth, placing family at the center of the psychosocial milieu influencing their development.

  19. INTERETHNIC DIFFERENCES OF YOUNG FAMILY NEEDS IN VARIOUS TYPES OF HELP

    Directory of Open Access Journals (Sweden)

    Tatiana Vladimirovna Anafjanova

    2013-08-01

    Full Text Available Various types of young family needs noted by the author are studied in the article: a need for parents’ help, state support, medical and social services.It is established that needs for medical and social help initially predominate in the structure of requirements of ethnic cohorts of young families both in cities and countryside, increasing according to the period and duration of marriage of a family.Ethnic differences of young family needs are revealed in all studied cohorts in the structure of the less significant types of assistance – parents’ help and state support, undoubtedly, due to the differences in reproductive activity of young ethnic families depending on the area of residence.DOI: http://dx.doi.org/10.12731/2218-7405-2013-8-2

  20. Hadron component in families observed with the Mt. Fuji thick type emulsion chamber

    International Nuclear Information System (INIS)

    Konishi, Eiichi

    1978-01-01

    Analysis of hadron component was made on the families detected with the thick type emulsion chamber exposed at Mt. Fuji. The thickness of the emulsion chamber was 70 c.u of Pb. The collecting power was 17 m 2 year. The character of hadrons in the families and their correlations with accompanying gamma-rays are shown. The energy spectra of ten families with number of gamma-ray not less than 5, gamma energy sum not less than 20 TeV and number of Pb jet not less than 5 minimum energy = 2 TeV, and their lateral distribution were investigated. These thick type emulsion chamber data are useful for the analysis of gamma-ray families observed by the thin type emulsion chamber. (Yoshimori, M.)

  1. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?

    NARCIS (Netherlands)

    Cameron, F. J.; Skinner, T. C.; de Beaufort, C. E.; Hoey, H.; Swift, P. G. F.; Aanstoot, H.; Aman, J.; Martul, P.; Chiarelli, F.; Daneman, D.; Danne, T.; Dorchy, H.; Kaprio, E. A.; Kaufman, F.; Kocova, M.; Mortensen, H. B.; Njolstad, P. R.; Phillip, M.; Robertson, K. J.; Schoenle, E. J.; Urakami, T.; Vanelli, M.; Ackermann, R. W.; Skovlund, S. E.

    Aims To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods Adolescents with Type 1 diabetes aged 11-18 years, from 21 paediatric diabetes care centres, in 19 countries, and their parents were invited to participate.

  2. Análisis de la eficiencia del sistema de aislamiento de vibraciones de grupos electrógenos MAN 18 V48/60 B // Efficiency analysis of vibration isolation system installed on engine generator sets type MAN 18 V48/60 b

    Directory of Open Access Journals (Sweden)

    Evelio Palomino‐Marín

    2011-01-01

    Full Text Available Todo sistema de aislamiento de vibraciones está encaminado en primera instancia a aislarvibraciones como su propio nombre lo indica. En ocasiones es menester que a la máquina no laperturben vibraciones procedentes del entorno, como lo puede ser por ejemplo, el caso de unarectificadora en un taller de mecanizado. Así mismo, en otras ocasiones resulta necesario aislar lamáquina para evitar que las vibraciones producidas por ella misma afecten al entorno. Tal es el casode los grupos electrógenos MAN 18 V48/60 B, cuyos motores de combustión interna responden a undiseño de 18 cilindros en “V” distribuidos en 13 metros de longitud. El sistema de aislamiento deestos motores consta de 14 paquetes de ocho resortes cada uno, incluyendo un amortiguadorviscoso por cada calzo. Se efectuaron mediciones espectrales de vibraciones en cada uno de estoscalzos antivibratorios, sobre y debajo de estos respectivamente y se evaluó la eficiencia de estoscalzos en todo el espectro, determinándose aquellas frecuencias que por determinadas razones noalcanzan los niveles de eficiencia en el aislamiento establecidos a tales efectos. De esta manera, sepresenta una metodología para conducir este análisis.Palabras claves: calzos antivibratorios, aislamiento de vibraciones, grupos electrógenos.___________________________________________________________________AbstractA vibroisolation system has a priority goal which is isolate vibrations. Such vibrations can come fromthe environment and could affect the machine behavior and could affect its technological functionstoo. That’s the case of a machine tool, for instance. However, it is also possible that vibrations comefrom the own machine and in this case the main goal of vibroisolation system is to avoid thatvibrations go to machine foundations. This is the case on which this paper is focused. Twelvevibration isolators with eight springs each one including a viscous damper are mounted asvibroisolation system on

  3. The Src, Syk, and Tec family kinases: distinct types of molecular switches.

    Science.gov (United States)

    Bradshaw, J Michael

    2010-08-01

    The Src, Syk, and Tec family kinases are three of the most well characterized tyrosine kinase families found in the human genome. Members of these kinase families function downstream of antigen and F(c) receptors in hematopoietic cells and transduce signals leading to calcium mobilization, altered gene expression, cytokine production, and cell proliferation. Over the last several years, structural and biochemical studies have begun to uncover the molecular mechanisms regulating activation of these kinases. It appears that each kinase family functions as a distinct type of molecular switch. This review discusses the activation of the Src, Syk, and Tec kinases from the perspective of structure, phosphorylation, allosteric regulation, and kinetics. The multiple factors that regulate the Src, Syk, and Tec families illustrate the important role played by each of these kinases in immune cell signaling.

  4. Browder's type strong convergence theorems for infinite families of nonexpansive mappings in Banach spaces

    Directory of Open Access Journals (Sweden)

    Suzuki Tomonari

    2006-01-01

    Full Text Available We prove Browder's type strong convergence theorems for infinite families of nonexpansive mappings. One of our main results is the following: let be a bounded closed convex subset of a uniformly smooth Banach space . Let be an infinite family of commuting nonexpansive mappings on . Let and be sequences in satisfying for . Fix and define a sequence in by for . Then converges strongly to , where is the unique sunny nonexpansive retraction from onto .

  5. [The medical social aspects of childhood traumatism accounting the family type].

    Science.gov (United States)

    2012-01-01

    In the Russian Federation the childhood traumatism is considered as one of progressing social dangers. The interest in studying the impact of family type on childhood morbidity formation is increased during last years. The family is a fundamental principle of mechanisms of public health formation. The questionnaire poll of parents of children suffered from traumas provides the data concerning the medical social risk factors impacting the level of childhood traumatism. The one of the most important prevention measures is the impact on the family.

  6. Educating families from ethnic minorities in type 1 diabetes-experiences from a Danish intervention study

    DEFF Research Database (Denmark)

    Povlsen, Lene; Olsen, Birthe; Ladelund, Steen

    2005-01-01

    focusing on immigrant families with children with type 1 diabetes is described. The intervention included the development of adapted educational material and guidelines, and a subsequent re-education of children, adolescents and parents from 37 families. The study demonstrated that it was possible...... to improve health outcome. During the study, the knowledge of diabetes increased, but with considerable differences between the families. HbA(1c) also decreased significantly during the intervention, but increased during follow-up. The paper discusses possible explanations and suggestions for optimising...

  7. Parental type of personality, negative affectivity and family stressful events in children with cancer.

    Science.gov (United States)

    Jakovljević, Gordana; Culić, Srđana; Benko, Marta; Jakupcević, Katja Kalebić; Stepan, Jasminka; Sprajc, Mirjana

    2010-09-01

    Psychological interactions between parents,children and social environment are very important for childhood health. The type of personality and stressful events are probably also cancer risk factors. We investigated personality types A/B and D (negative affectivity and social inhibition) in parents of children with cancer (PCC), as well as social environmental factors, and family / children's stressful events before the appearance of cancer. Bortner Type A Scale for evaluating parental type A/B personality, and 14 question personality test (DS14) for parental type D personality (negative affectivity and social inhibition score) were performed. Questionnaire eligible information about stressful events and social environmental factors in children with cancer (CC) were analyzed. Analyzing 127 PCC and 136 parents of healthy children (PHC) we found no significant differences in A/B type personality and social inhibition. There was significant difference in negative affectivity. PCC had more negative affectivity than PHC. We found more stressful events before cancer appearance in the families of children with cancer (FCC) than in healthy families (FHC), and more children's stressful events in CC then in healthy ones (HC). There were more quarrels in FCC, while CC were more "easy good-mannered children" than HC. Our results support the hypothesis that stress is a cancer risk factor and the idea that impaired parental functioning may be a mechanism linking family stress with the aetiology of cancer.

  8. Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1

    International Nuclear Information System (INIS)

    Brandi, M.L.; Aurbach, G.D.; Fitzpatrick, L.A.; Quarto, R.; Spiegel, A.M.; Bliziotes, M.M.; Norton, J.A.; Doppman, J.L.; Marx, S.J.

    1986-01-01

    Hyperplasia of the parathyroid glands is a central feature of familial multiple endocrine neoplasia type 1. We used cultured bovine parathyroid cells to test for mitogenic activity in plasma from patients with this disorder. Normal plasma stimulated [ 3 H]thymidine incorporation, on the average, to the same extent as it was stimulated in a plasma-free control culture. This contrasted with the results of the tests with plasma from patients with familial multiple endocrine neoplasia type 1, in which parathyroid mitogenic activity increased 2400 percent over the control value (P less than 0.001). Plasma from these patients also stimulated the proliferation of bovine parathyroid cells in culture, whereas plasma from normal subjects inhibited it. Parathyroid mitogenic activity in plasma from the patients with familial multiple endocrine neoplasia type 1 was greater than that in plasma from patients with various other disorders, including sporadic primary hyperparathyroidism (with adenoma, hyperplasia, or cancer of the parathyroid), sporadic primary hypergastrinemia, sporadic pituitary tumor, familial hypocalciuric hypercalcemia, and multiple endocrine neoplasia type 2 (P less than 0.05). Parathyroid mitogenic activity in the plasma of patients with familial multiple endocrine neoplasia type 1 persisted for up to four years after total parathyroidectomy. The plasma also had far more mitogenic activity in cultures of parathyroid cells than did optimal concentrations of known growth factors or of any parathyroid secretagogue. This mitogenic activity had an apparent molecular weight of 50,000 to 55,000. We conclude that primary hyperparathyroidism in familial multiple endocrine neoplasia type 1 may have a humoral cause

  9. Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

    Science.gov (United States)

    Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao

    2017-11-01

    The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?

    DEFF Research Database (Denmark)

    Cameron, F.J.; Skinner, T.C.; Beaufort, C.E. de

    2008-01-01

    Aims To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods Adolescents with Type 1 diabetes aged 11-18 years, from 21 paediatric diabetes care centres, in 19 countries, and their parents were invited to participate...... a questionnaire. Family demographic factors that were associated with metabolic outcomes included: parents living together (t = 4.1; P ...-parent disagreement on responsibility for diabetes care practices (F = 8.46; d.f. = 2; P outcomes, but were stronger predictors of metabolic control than age, gender or insulin treatment regimen...

  11. Self-concept, attitude toward illness and family functioning in adolescents with type 1 diabetes.

    Science.gov (United States)

    Ho, Josephine; Lee, Arden; Kaminsky, Laura; Wirrell, Elaine

    2008-09-01

    The primary objective of the present study was to assess self-concept in adolescents with type 1 diabetes, and to determine whether this is associated with attitudes toward having chronic disease, family functioning or severity of diabetes. The secondary objective was to assess the impact of family income, sex, age and age at diagnosis on adolescent self-concept. A cross-sectional, self-report survey of 48 adolescents with type 1 diabetes (22 boys and 26 girls; mean +/- SD age at time of study 15.2+/-1.7 years [range 12.2 to 18.0 years]; mean age at diagnosis 9.2+/-3.3 years [range 1.3 to 14.9 years]) was performed using the Piers-Harris Children's Self-Concept (PHCSC) scale, second edition; the Child Attitude Toward Illness Scale; and the Family Assessment Measure scale, version III. Demographic information including net family income and a symptom inventory form to assess disease severity was collected. Adolescents' self-concept measured by the PHCSC scale was significantly positively correlated with a more positive attitude toward chronic illness as measured by the Child Attitude Toward Illness Scale. The PHCSC scale was found to have a significant negative correlation with the Family Assessment Measure scale score, indicating that a better self-concept was correlated with enhanced family functioning. Self-concept was not significantly correlated with disease severity, income of family, sex, age at diagnosis, age at time of study, episodes of diabetic ketoacidosis or episodes of hypoglycemia. Adolescents with better self-concept had more positive attitudes toward their chronic illness and enhanced family functioning. Although no correlation with diabetes disease severity was seen in the study population, interventions aimed at improving adolescent self-concept may have a positive impact on diabetes treatment by improving attitude toward living with type 1 diabetes.

  12. Immunomodulation by the Pseudomonas syringae HopZ type III effector family in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Jennifer D Lewis

    Full Text Available Pseudomonas syringae employs a type III secretion system to inject 20-30 different type III effector (T3SE proteins into plant host cells. A major role of T3SEs is to suppress plant immune responses and promote bacterial infection. The YopJ/HopZ acetyltransferases are a superfamily of T3SEs found in both plant and animal pathogenic bacteria. In P. syringae, this superfamily includes the evolutionarily diverse HopZ1, HopZ2 and HopZ3 alleles. To investigate the roles of the HopZ family in immunomodulation, we generated dexamethasone-inducible T3SE transgenic lines of Arabidopsis for HopZ family members and characterized them for immune suppression phenotypes. We show that all of the HopZ family members can actively suppress various facets of Arabidopsis immunity in a catalytic residue-dependent manner. HopZ family members can differentially suppress the activation of mitogen-activated protein (MAP kinase cascades or the production of reactive oxygen species, whereas all members can promote the growth of non-virulent P. syringae. Localization studies show that four of the HopZ family members containing predicted myristoylation sites are localized to the vicinity of the plasma membrane while HopZ3 which lacks the myristoylation site is at least partially nuclear localized, suggesting diversification of immunosuppressive mechanisms. Overall, we demonstrate that despite significant evolutionary diversification, all HopZ family members can suppress immunity in Arabidopsis.

  13. Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family

    Science.gov (United States)

    Pour-Jafari, H; Zamanian, A; Pour-Jafari, B

    2010-01-01

    Background: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. In this study, we delineated the genetic analysis of an Iranian family with four members affected with OCA1. Methods: Clinical exams and paraclinical test were performed for all patients of the case family, also proband, her husband, and her parents. Pedigree chart was drawn too. We extracted the genomic DNA from the leukocytes of seven members of the family. Haplotype analysis at the TYR locus was done and informative microsatellite markers were employed. In order to amplify the entire coding region of the TYR gene, for bidirectional direct sequencing mutation analysis, eight sets of primers were used. Results: Our patients were diagnosed as affected with Oculocutaneous albinism type1a. Analysis of pedigree pattern showed an autosomal recessive inheritance. Analysis with different markers in chromosomes 5, 6, 9, 11 and 15 showed that cause of albinism in our case family was on chromosome 11 (D11S1887 marker was informative). Conclusions: The results offered a more developed method of diagnosis for OCA1 carrier identification and genetic counseling for OCA1 affected families as well; also submit a sample of mutation involved with oculocutaneous albinism in Iran. Genetic analysis is necessary for determining the type of albinism in an individual patient. PMID:23112997

  14. Prevention of Type 2 diabetes after gestational diabetes directed at the family context

    DEFF Research Database (Denmark)

    Kragelund Nielsen, K; Grunnet, L Groth; Maindal, H Terkildsen

    2018-01-01

    for future research. A narrative review of the symposium presentations and related literature is given. GDM is associated with increased short- and long-term adverse outcomes including Type 2 diabetes for both mother and offspring. Interestingly, women's partners are also at higher risk of Type 2 diabetes....... Thus, although GDM is diagnosed in pregnant women, the implications seem to affect the whole family. Structured lifestyle intervention can prevent or delay the onset of Type 2 diabetes. In this review, we show how numerous challenges are present in the target group, when such interventions are sought......In this review, we aim to summarize knowledge about gestational diabetes (GDM) after delivery; with special focus on the potential of preventing Type 2 diabetes in a family context. The review expands on the key messages from a symposium held in Copenhagen in May 2017 and highlights avenues...

  15. Characteristics of the Danish families with multiple endocrine neoplasia type 1

    DEFF Research Database (Denmark)

    Jäger, Anne Charlotte; Friis-Hansen, Lennart; Hansen, Thomas V O

    2006-01-01

    Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier...... mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were...... found in 68 patients with other fore-/midgut endocrine tumours. Moreover, screening of 60 consecutive patients with primary prolactinoma did not identify any mutation carriers. Our data indicate that MEN1 mutation screening is efficient in patients with familial MEN1. Screening should also be offered...

  16. A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.

    Science.gov (United States)

    Xiao, Yun; Luo, Jianfen; Zhang, Fengguo; Li, Jianfeng; Han, Yuechen; Zhang, Daogong; Wang, Mingming; Ma, Yalin; Xu, Lei; Bai, Xiaohui; Wang, Haibo

    2016-01-01

    The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1. Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1). WS1 was diagnosed in a 4-year-old boy according to the Waardenburg syndrome Consortium criteria. The detailed family history revealed four affected members in the family. Routine clinical, audiological examination, and ophthalmologic evaluation were performed on four affected and 10 healthy members in this family. The genetic analysis was conducted, including the targeted next-generation sequencing of 127 known deafness genes combined with Sanger sequencing, TA clone and bioinformatic analysis. A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified in PAX3, which was co-segregated with WS1 in the Chinese family. This mutation was absent in the unaffected family members and 200 ethnicity-matched controls. The phylogenetic analysis and three-dimensional (3D) modeling of Pax3 protein further confirmed that the novel compound heterozygous mutation was pathogenic.

  17. Involvement of family members in life with type 2 diabetes: Six interconnected problem domains of significance for family health identity and healthcare authenticity.

    Science.gov (United States)

    Grabowski, Dan; Andersen, Tue Helms; Varming, Annemarie; Ommundsen, Christine; Willaing, Ingrid

    2017-01-01

    Family involvement plays a key role in diabetes management. Problems and challenges related to type 2-diabetes often affect the whole family, and relatives are at increased risk of developing diabetes themselves. We highlight these issues in our objectives: (1) to uncover specific family problems associated with mutual involvement in life with type 2-diabetes and (2) to analytically look at ways of approaching these problems in healthcare settings. Qualitative data were gathered in participatory problem assessment workshops. The data were analysed in three rounds using radical hermeneutics. Problems were categorized in six domains: knowledge, communication, support, everyday life, roles and worries. The final cross-analysis focusing on the link between family identity and healthcare authenticity provided information on how the six domains can be approached in healthcare settings. The study generated important knowledge about problems associated with family involvement in life with type 2 diabetes and about how family involvement can be supported in healthcare practice.

  18. Diabetes care provider perceptions on family challenges of pediatric type 1 diabetes

    Science.gov (United States)

    Pediatric healthcare providers' perspectives on barriers to diabetes self-management among youth with type 1 diabetes and strategies to overcome them were explored qualitatively. Family conflict about diabetes care was viewed as a common problem, addressable by behavioral interventions to improve co...

  19. Young Children's Sibling Relationship Interactional Types: Associations with Family Characteristics, Parenting, and Child Characteristics

    Science.gov (United States)

    Gamble, Wendy C.; Yu, Jeong Jin

    2014-01-01

    Research Findings: This study examines patterns of sibling relationship qualities or interactional types and their association with family characteristics, parenting, and the characteristics of 1 of those children. Participants were 65 children (34 boys; Time 1 mean age = 51 months), their mothers, fathers, and Head Start teachers. Approximately…

  20. (GPR98) gene in an Iranian family with Usher syndrome type II

    Indian Academy of Sciences (India)

    2014-12-04

    Dec 4, 2014 ... Usher syndrome (USH) is an autosomal recessive disease characterized by bilateral sensorineural ... Usher syndrome type 1 (USH1) which is manifested by severe to profound congenital ... down-sloping moderate sensorineural HL across all frequencies in this family. (c) Segregation of c.10019T>G (p.

  1. Genomewide analysis of MATE-type gene family in maize reveals ...

    Indian Academy of Sciences (India)

    Research on evolutionary relationship and expression profiles of MATE-type gene family in maize .... To analyse the evolutionary relationships among the 49 ... sess 11 to 13 introns. Additionally, some close gene pairs were indeed distinct in intron–exon arrangements. For exam- ple, ZmMATE24 contained six introns, ...

  2. Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

    NARCIS (Netherlands)

    van Asperen, C. J.; Overweg-Plandsoen, W. C.; Cnossen, M. H.; van Tijn, D. A.; Hennekam, R. C.

    1998-01-01

    The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1

  3. Parenting Practices and Child Adjustment in Different Types of Households: A Study of African American Families

    Science.gov (United States)

    Simons, Leslie Gordon; Chen, Yi-Fu; Simons, Ronald L.; Brody, Gene; Cutrona, Carolyn

    2006-01-01

    This article uses a sample of 867 African American households to investigate differences in parenting practices and child outcomes by type of household. Results indicate that mothers provide similar levels of parenting regardless of family structure. Secondary caregivers, however, show a great deal of variation in quality of parenting. Fathers and…

  4. Influence of family type and parenting behaviours on teenage sexual behaviour and conceptions.

    Science.gov (United States)

    Bonell, C; Allen, E; Strange, V; Oakley, A; Copas, A; Johnson, A; Stephenson, J

    2006-06-01

    Longitudinal data were used to explore relations between teenage pregnancy, sexual behaviour, and family type. The study examined whether students from lone parent and/or teenage mother initiated families more commonly report sex, lack of contraception at first sex, and/or conceptions by age 15/16, and whether such associations can be explained by low parental strictness, difficult parent-child communication, and/or low parental input into sex education. Up to date longitudinal UK research on family influences on conceptions is lacking, as is longitudinal research on family influences on sexual behaviour. No previous studies have comprehensively examined effects of parenting behaviours. Unlike previous research, this study tested theories suggesting that parenting deficits among lone parent and teenage initiated families increase risk of teenage pregnancy among their children. Secondary analysis of data from a trial of sex education. Girls and boys from lone parent families or having mothers who were teenagers when they were born were more likely to report sex but not lack of contraception at first sex by age 15/16. Girls and boys with mothers having them as teenagers, and boys but not girls from lone parent families, were more likely to report being involved in conceptions by age 15/16. Only the association between teenage mother family and girls' conceptions was reduced by adjusting for a parenting behaviour measure. Students from lone parent families or having mothers who were teenagers when they were born are more likely to report early sexual debut and conceptions by age 15/16, but this is not generally explained by parenting style.

  5. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

  6. [Association between type 2 diabetes and physical activity in individuals with family history of diabetes].

    Science.gov (United States)

    Petermann, Fanny; Díaz-Martínez, Ximena; Garrido-Méndez, Álex; Leiva, Ana María; Martínez, María Adela; Salas, Carlos; Poblete-Valderrama, Felipe; Celis-Morales, Carlos

    2017-12-01

    To investigate whether the association between type 2 diabetes (T2D) and family history of diabetes is modified by the levels of physical activity in the Chilean population. In this study were included 5129 participants from the cross-sectional 2009-2010 National Health Survey. Physical activity level was assessed using the Global Physical Activity Questionnaire and family history of T2D, through self-reporting. The association between diabetes, family history of diabetes and physical activity was determined using logistic regression. The odds of developing T2D in people with family history of this pathology is high, independent of their levels of physical activity and adiposity. Both men and women with family history of T2D have a higher probability of developing T2D. The odds ratio for having T2D was 5,49 (95%CI: 3,85-7,84; p <0,0001) in women, and 8,16 (95%CI: 4,96-13,4; p <0,0001) in men with family history of T2D and low levels of physical activity in comparison to those with high levels of physical activity and without a family history. Given the elevated risk of developing T2D presented by individuals with a family history of this pathology, and the effect of physical activity in reducing such risk, people with family history of diabetes may need higher levels of physical activity to attenuate their susceptibility to T2D. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Teratógenos - Primera parte*

    Directory of Open Access Journals (Sweden)

    Patricia McElhatton

    2003-08-01

    Full Text Available Los riesgos y beneficios de la farmacoterapia durante el embarazo siguen siendo difíciles de evaluar. En el presente artículo, que consta de dos partes, se establecen algunos principios generales de teratogenia y de prescripción durante el embarazo, se enumeran los medicamentos con efectos fetotóxicos o teratógenos conocidos y se describen los problemas específicos causados por productos que actúan en el sistema nervioso central. Entre esos problemas cabe citar dismorfismo facial y defectos del tubo neural causados por los anticonvulsivos, posibles defectos cardiacos por el litio y posible síndrome de abstinencia por los antidepresivos.A bibliographic review of professional competence was made and concepts of competence, evaluation and conditions to create evaluative tools were analyzed. The different levels of professional performance were described according to Miller´s model. Reference was made to the newest evaluation test, the objective structured clinical examination, which is one of the most complete methodologies at present, although it is made clear that the evaluation is carried out under a created and simulated situation. It is concluded that the bases for making the evaluative tools that will measure the competence or incompetence of our medical sciences professionals should be structured.

  8. Significance of family and peer support for metabolic control of type 1 diabetes in adolescents

    Directory of Open Access Journals (Sweden)

    Đurović Dušanka

    2009-01-01

    Full Text Available The aim of the paper was to explore the significance of family and peer support for metabolic control of Type 1 diabetes in adolescents. Metabolic control refers to maintenance of acceptable blood glucose level thus diminishing risk for chronic complications. It involves regular insulin shots, measuring blood glucose and keeping diary, as the daily based self-control. Regular visits to endocrinologist and screening for chronic complications are compulsory. The sample comprised 79 adolescents age 10-17 years with diagnose of Type 1 diabetes and properly treated at the institute. The sample was divided in two groups - with good (N=40 and poor (N=39 metabolic control. A criterium for good metabolic control was glycosilated hemoglobin less than 7,6%. Social support was measured by Social Support Scale consisting of two parts - the first for estimation of registered family support (based upon modified Perceived Social Support Family Scale and the second for estimation of registered friends' support (modified Perceived Social Support Friend Scale. Adolescents with good metabolic control referred statistically more significant social support in the family, unlike the group with poor metabolic control. Considering peer social support, there was no statistically significant difference. Positive family history for diabetes also appeared to be directly linked to good metabolic control.

  9. Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia

    Energy Technology Data Exchange (ETDEWEB)

    Feussner, G.; Dobmeyer, J. [Univ. of Heidelberg (Germany); Nissen, H.; Hansen, T.S. [Odense Univ. Hospital (Denmark)

    1996-10-16

    We report on a 20-year-old man with the combination of two independent familial lipoprotein disorders: heterozygous familial hypercholesterolemia (FH) and type III hyperlipoproteinemia (HLP). Familial hypercholesterolemia was diagnosed by elevated total and low density lipoprotein cholesterol levels and family history. By denaturing gradient gel electrophoresis, DNA sequencing and restriction fragment length polymorphism analysis, a G{r_arrow}A splice donor mutation in intron 3 of the proband`s low density lipoprotein receptor gene was identified as the underlying molecular defect. This mutation was described previously as a receptor-negative founder mutation in Norway (FH-Elverum) and subsequently in 6 unrelated heterozygous English patients, creating a severe phenotype of familial hypercholesterolemia. Type III HLP was confirmed by homozygosity for apolipoprotein (apo) E2 and an elevated ratio of very low density lipoprotein cholesterol to serum triglycerides (0.40; normal ratio about 0.20). The patient has unusual flat xanthomas in the interdigital webs of the hands which are normally not found in either disease. These dermatological findings might therefore be indicative of the rare combination of both disorders of lipoprotein metabolism in one individual. 29 refs., 5 figs., 1 tab.

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

    Science.gov (United States)

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

    2016-01-01

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

  11. La ADN topoisomerasa tipo I de protozoos patógenos como Diana terapéutica de fármacos antitumorales Type I DNA topoisomerase from protozoan pathogens as a potential target for anti-tumoral drugs

    Directory of Open Access Journals (Sweden)

    Rosa M Reguera

    2007-12-01

    , Chagas disease or leishmaniasis, among others, are unicellular protozoan parasites with no immune-prophylactic treatment and where the chemotherapeutical treatment is still under controversy. At present, the chemotherapeutic approach to these diseases is expensive, has side or toxic effects and it does not provide economic profits to the Pharmaceuticals which then have no or scarce enthusiasm in R & D investments in this field. The identification of type I DNAtopoisomerases as promising drug targets is based on the excellent results obtained with camptothecin derivatives in anticancer therapy. The recent finding of significant structural differences between human type I DNAtopoisomerase and their counterparts in trypanosomatids has open a new field in drug discovery, the aim is to find structural insights to be targeted by new drugs. This review is an update of DNA-topoisomerases as potential chemotherapeutic targets against the most important protozoan agents of medical interest.

  12. SELF-CARE PRACTICES DEVELOPED FOR TYPE 2 DIABETICS IN A FAMILY HEALTH UNIT

    Directory of Open Access Journals (Sweden)

    Maria Imaculada Cardoso

    2011-01-01

    Full Text Available Diabetes mellitus type 2 (DM2 is a chronic condition that imposes limitations onindividuals in daily activities and may lead to decreased self-esteem and affect quality of life,requiring actions of health education for the whole family and society in order to promote self-care.This study aimed to characterize the type 2 diabetics in a health unit served by the FamilyEducation Program of Work for Health / Family Health in Várzea Grande / MT in relation to sociodemographicand self-care practices. 26 individuals participated in the study who responded to aquestionnaire, whose results were tabulated on Epi-Info 3.5.1 Program. Of these, 74.1% werefemale, 57.7% married, 38.5% were between 60 to 69 years, 50% had finished elementary school,and 69.2% had family income between 1 and 2 minimum wages . It was found that self-carepractices are developed in part with a predominance of adherence to drug therapy and change ineating habits, but there is poor adherence to the practice of physical exercises. We conclude that it isimportant to promote health education activities to consider the person with type 2 diabetes in theirpotential for new learning with a view to permanent self-care.

  13. Educating families from ethnic minorities in type 1 diabetes-experiences from a Danish intervention study

    DEFF Research Database (Denmark)

    Povlsen, Lene; Olsen, Birthe; Ladelund, Steen

    2004-01-01

    Ethnic minorities may constitute vulnerable groups within Western health care systems as their ability to master severe chronic diseases could be affected by barriers such as different culture and health/illness beliefs, communication problems and limited educational background. An intervention...... focusing on immigrant families with children with type 1 diabetes is described. The intervention included the development of adapted educational material and guidelines, and a subsequent re-education of children, adolescents and parents from 37 families. The study demonstrated that it was possible...... education and calls for new projects where ethnic minorities are active participants in the development of appropriate educational programs and material....

  14. Educating families from ethnic minorities in type 1 diabetes-experiences from a Danish intervention study

    DEFF Research Database (Denmark)

    Povlsen, Lene; Olsen, Birthe; Ladelund, Steen

    2004-01-01

    focusing on immigrant families with children with type 1 diabetes is described. The intervention included the development of adapted educational material and guidelines, and a subsequent re-education of children, adolescents and parents from 37 families. The study demonstrated that it was possible...... to improve health outcome. During the study, the knowledge of diabetes increased, but with considerable differences between the families. HbA(1c) also decreased significantly during the intervention, but increased during follow-up. The paper discusses possible explanations and suggestions for optimising......Ethnic minorities may constitute vulnerable groups within Western health care systems as their ability to master severe chronic diseases could be affected by barriers such as different culture and health/illness beliefs, communication problems and limited educational background. An intervention...

  15. Xenoestrógenos: función y efectos

    Directory of Open Access Journals (Sweden)

    Alejandro Canales A.

    2003-01-01

    Full Text Available Existen compuestos xenobióticos capaces de incrementar la síntesis de estrógenos mediante el acople al sitio activo del receptor a estrógenos o con la aplicación de una acción semejante a los estrógenos endógenos, por lo que son nombrados xenoestrógenos. Éstos se clasifican en el grupo de las xenohormonas, conformado por compuestos químicos sintéticos o naturales de plantas que pueden interferir con las funciones del sistema endocrino. La forma en la que actúan este tipo de compuestos es variada, mediante la unión al receptor a estrógenos, la elaboración de rutas de señales bioquímicas o bien por medio de mecanismos complejos independientes de la unión al receptor a estrógenos. Existen estudios que demuestran que el sistema endocrino de ciertos peces y especies silvestres ha sido alterado por compuestos químicos que contaminan su medio ambiente. El efecto ha sido puesto en evidencia en varias investigaciones llevadas a cabo, tanto en especies silvestres como en humanos. Incluso se le ha asociado con trastornos en el sistema reproductor y sistema endocrino, así como con una alta incidencia en el desarrollo de diferentes tipos de tumores malignos. Otro tipo de xenohormonas pueden ser benéficas, como las que se encuentran de manera natural en plantas y peces. El consenso generalizado entre investigadores expertos indica que existe la necesidad de estudios más precisos de toxicidad, carcinogenecidad y actividad hormonal, tanto hacia los productos químicos sintéticos ya existentes, como hacia los nuevos productos químicos, antes de que éstos sean comercializados

  16. Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

    DEFF Research Database (Denmark)

    Farooq, Muhammad; Nakai, Hiroyuki; Fujimoto, Atsushi

    2013-01-01

    All TGF-beta family members have a prodomain that is important for secretion. Lack of secretion of a TGF-beta family member GDF5 is known to underlie some skeletal abnormalities, such as brachydactyly type C that is characterized by a huge and unexplained phenotypic variability. To search...... for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T>C; p.Leu176Pro). Initial in vitro...

  17. Clinical and genetic investigation of families with type II Waardenburg syndrome.

    Science.gov (United States)

    Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

    2016-03-01

    The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

  18. A family of Newton-Halley type methods to find simple roots of nonlinear equations and their dynamics

    Directory of Open Access Journals (Sweden)

    Carlos E. Cadenas R.

    2017-09-01

    Full Text Available In this work a new family of Newton-Halley type methods for solving nonlinear equations is presented. the dynamics of the Newton-Halley family is analyzed for the class of quadratic polynomials and the convergence is established. We find the fixed and critical points. The stable and unstable behaviors are studied. The parameter space associated with the family is studied and finally, some dynamical planes that show different aspects of the dynamics of this family are presented.

  19. Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).

    Science.gov (United States)

    Barros, José; Mendes, Alexandre; Matos, Ilda; Pereira-Monteiro, José

    2012-10-01

    Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2. A 10-year follow-up allowed us to observe complex auras, including psychotic symptoms in two siblings. Male, 48 years old, with an aura that included complex illusions with a feeling of time travelling, coincident with other aura features. The aura was regarded as mystical by the patient. Female, 38 years old, with a complex migraine aura, during which she believed she had the ability to time travel and was being followed by lobbyists who wanted to steal this ability from her. FHM type 2 must be included in the list of differential diagnoses of acute psychosis in patients with a previous history of migraine aura.

  20. Comparison of children's self-reports of depressive symptoms among different family interaction types in northern Taiwan

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    Yen Lee-Lan

    2007-06-01

    Full Text Available Abstract Background Previous research has shown that family interactions are associated with depressive symptoms in children. However, detailed classifications of family interaction types have not been studied thoroughly. This study aims to understand the types of family interactions children experience and to identify the specific types of family interactions that are associated with a higher risk of depressive symptoms in children. Methods Data used in the study was collected as part of the Child and Adolescent Behavior in Long term Evolution (CABLE project in 2003. CABLE is a longitudinal cohort study that commenced in 2001 and collects data annually from children in Taipei city and Hsinchu county in northern Taiwan. The data analyzed in this study was that obtained from the sixth graders (aged 11 to 12 years old in 2003. Of the 2,449 sixth graders, 51.2% were boys and 48.8% were girls. Factor analysis and cluster analysis were used to investigate the types of family interactions. One way ANOVA was used to establish the relationship between family interaction types and children's self-reports of depressive symptoms. Results Based on the results of factor analysis, the latent factors for family interactions included supporting activities, psychological control, parental discipline, behavioral supervision, and family conflict. After conducting cluster analysis using factor scores, four types of family interactions were revealed: supervised (29.66%, disciplined (13.56%, nurtured (40.96% and conflict (15.82%. Children from the disciplined or conflict families were more likely to report depressive symptoms. Children from the nurtured families were least likely to report depressive symptoms. Conclusion Family interactions can be classified into four different types, which are related to children's self-reports of depressive symptoms. The creation of a family interaction environment that is beneficial for children's mental health is an important

  1. A Müntz type theorem for a family of corner cutting schemes

    KAUST Repository

    Ait-Haddou, Rachid

    2013-02-01

    Dimension elevation process of Gelfond–Bézier curves generates a family of control polygons obtained through a sequence of corner cuttings. We give a Müntz type condition for the convergence of the generated control polygons to the underlying curve. The surprising emergence of the Müntz condition in the problem raises the question of a possible connection between the density questions of nested Chebyshev spaces and the convergence of the corresponding dimension elevation algorithms.

  2. Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome

    Directory of Open Access Journals (Sweden)

    H. Amartino

    2014-01-01

    Full Text Available Mucopolysaccharidosis type II (MPSII is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS. The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.

  3. EFECTOS DE LOS FITOESTRÓGENOS EN LA REPRODUCCIÓN ANIMAL PHYTOSTROGEN EFFECTS ON ANIMAL REPRODUCTION

    Directory of Open Access Journals (Sweden)

    Yasser Yohan Lenis Sanin

    2010-12-01

    Full Text Available Los fitoestrógenos son compuestos producidos como metabolitos secundarios en algunas plantas y forrajes destinados al consumo humano y animal. Su importancia radica en que cuando son consumidos pueden tener actividad endógena de forma agónica o antagónica con los estrógenos. Se conocen cinco familias de fitoestrógenos clasificadas de acuerdo a su estructura química (flavonoides, isoflavonoides, coumestanos, lignanos y estilbenos. A pesar de que los fitoestr��genos afectan aparatos y sistemas de vital importancia como el renal, nervioso, cardiovascular entre otros; uno de los sistemas más afectados es el reproductivo, sobre el cual se centra la presente revisión, sin embargo, la literatura es controversial al respecto, demostrado efectos tanto carcinogénicos como anticarcinogénicos. El mecanismo de acción de los fitoestrógenos está mediado por la estimulación o inhibición de los receptores ERalfa y ERbeta que son propios de los estrógenos, por lo cual se consideran de importancia en los sistemas productivos y la salud humana por alteraciones que puedan provocar sobre la fisiología reproductiva. El objetivo de esta revisión es mostrar el estado del arte del conocimiento del efecto de los fitoestrógenos sobre la reproducción y resaltar los vacíos en el conocimiento.Phytoestrogens are compounds produced as secondary metabolites in some plants and forajes for animal and human consumption. Its importance is that when they are consumed they can have endogenous activity of agonizing or antagonizing the estrogens. It is known five families of phytoestrogens classified according to their chemical structure as (flavonoids, isoflavones, coumestans, lignans and stilbenes. Despite the fact that phytoestrogens affect vital systems such as the kidney, nervous, cardiovascular and others, one of the most affected is the reproductive tract, in which is the focuses of this review; however, the literature is controversial because they has

  4. Weyl fermions in a family of Gödel-type geometries with a topological defect

    Science.gov (United States)

    Garcia, G. Q.; Oliveira, J. R. De S.; Furtado, C.

    In this paper, we study Weyl fermions in a family of Gödel-type geometries in Einstein general relativity. We also consider that these solutions are embedded in a topological defect background. We solve the Weyl equation and find the energy eigenvalues and eigenspinors for all three cases of Gödel-type geometries where a topological defect is passing through them. We show that the presence of a topological defect in these geometries contributes to the modification of the spectrum of energy. The energy zero modes for all three cases of the Gödel geometries are discussed.

  5. Types of strain among family members of individuals with autism spectrum disorder across the lifespan.

    Science.gov (United States)

    Shivers, Carolyn M; Krizova, Katarina; Lee, Gloria K

    2017-09-01

    Although increased caregiver strain is often found among family caregivers of individuals with autism spectrum disorder, it is still unclear as to how different types of strain relate to amount and types of caregiving across the lifespan. The present study examined different types of strain (i.e. subjective internalized strain, subjective externalized strain, and objective strain) and how such strain relates to the amount of caregiving responsibilities. Data was collected via online survey from a sample of 193 family caregivers of individuals with ASD from the United States, Canada, and the Republic of Ireland. Participants completed measures of strain and caregiving responsibilities, as well as coping, demographics, and services needed and received by the individual with ASD. Caregivers reported higher levels of objective strain than subjective, and caregiving responsibility was related to objective and subjective internalized strain. Coping style was strongly correlated with all types of strain, and unmet service needs were significantly related to objective and subjective internalized strain. Caregiving behaviors were only related to objective strain. The present results indicate that, although caregiving responsibility is related to objective and subjective internalized strain, the relationship is perhaps not as strong as the relationship between coping mechanisms and strain. Future research is needed to understand different types of strain and develop strategies to help caregivers. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Identification of a SIRT1 mutation in a family with type 1 diabetes

    DEFF Research Database (Denmark)

    Biason-Lauber, Anna; Böni-Schnetzler, Marianne; Hubbard, Basil P

    2013-01-01

    developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative colitis. Initially, a 26-year-old man was diagnosed with the typical features of type 1 diabetes, including lean body mass, autoantibodies, T cell reactivity to β cell antigens, and a rapid dependence on insulin......Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members...... identify a role for SIRT1 in human autoimmunity and unveil a monogenic form of type 1 diabetes....

  7. Economic burden on families of childhood type 1 diabetes in urban Sudan.

    Science.gov (United States)

    Elrayah, Hind; Eltom, Mohamed; Bedri, Ashraf; Belal, Abdelrahim; Rosling, Hans; Ostenson, Claes-Göran

    2005-11-01

    The aims of this study were to estimate the direct costs of childhood diabetes in a low income country, Sudan, and to assess the effectiveness of care paid for by the families. For this purpose, socio-economic and demographic data on families were obtained from the parents of 147 children with type 1 diabetes, attending public or private clinics in Khartoum State, Sudan. The median annual income of the families of diabetic children was US dollars (US$) 1222 (range 0-14,338) of which 16% was received as financial help from relatives and friends. The median annual expenditure of diabetes care was US$ 283 per diabetic child of which 36% was spent on insulin. Of the family expenditure on health, 65% was used for the diabetic child. Families of diabetic children who were attending private clinics had a significantly higher total expenditure on health and home blood glucose monitoring than those who were attending the public clinics. However, there was no difference in total income between the two groups and glycaemic control was poor in 86% of the patients, regardless of whether care was being given by private or public clinics. The occurrence of the disease and its poor control appeared to exert a negative impact on the school performance of the diabetic child. In conclusion, the low direct costs reflect the minimal care given to the diabetic patients. Under the present economic conditions, families pay a considerable part of their income to sponsor the health of their diabetic children and receive little support other than that from relatives and friends. The present organization of diabetes care does not provide the patient with empowerment, knowledge and self-care ability. Well-trained diabetic teams and education programs may improve this situation.

  8. The impact of family status on gender identity and on sex-typing of household tasks in Israel.

    Science.gov (United States)

    Kulik, Liat

    2005-06-01

    The author examined differences in sex-typing of household tasks (adult gender roles and children's chores) and differences in gender identity among adult Israelis. The author compared 2 groups of participants: single people without children (single-family participants; n = 62) and married people with children (full-family participants; n = 62). Regarding sex-typing of household tasks and direct assessments of masculine and feminine identity, there were no differences between single-family participants and full-family participants. However, family status affected self-assessments of gender identity that were based on cultural definitions of masculine and feminine attributes. Furthermore, correlations between direct assessments of gender identity and sex-typing of household tasks differed according to family status.

  9. The GenoChip: A New Tool for Genetic Anthropology

    Science.gov (United States)

    Elhaik, Eran; Greenspan, Elliott; Staats, Sean; Krahn, Thomas; Tyler-Smith, Chris; Xue, Yali; Tofanelli, Sergio; Francalacci, Paolo; Cucca, Francesco; Pagani, Luca; Jin, Li; Li, Hui; Schurr, Theodore G.; Greenspan, Bennett; Spencer Wells, R.

    2013-01-01

    The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project’s new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic

  10. KIR haplotypes are associated with late-onset type 1 diabetes in European-American families.

    Science.gov (United States)

    Traherne, J A; Jiang, W; Valdes, A M; Hollenbach, J A; Jayaraman, J; Lane, J A; Johnson, C; Trowsdale, J; Noble, J A

    2016-01-01

    Classical human leukocyte antigens (HLA) genes confer the strongest, but not the only, genetic susceptibility to type 1 diabetes. Killer cell immunoglobulin-like receptors (KIR), on natural killer (NK) cells, bind ligands including class I HLA. We examined presence or absence, with copy number, of KIR loci in 1698 individuals, from 339 multiplex type 1 diabetes families, from the Human Biological Data Interchange, previously genotyped for HLA. Combining family data with KIR copy number information allowed assignment of haplotypes using identity by descent. This is the first disease study to use KIR copy number typing and unambiguously define haplotypes by gene transmission. KIR A1 haplotypes were positively associated with T1D in the subset of patients without the high T1D risk HLA genotype, DR3/DR4 (odds ratio=1.29, P=0.0096). The data point to a role for KIR in type 1 diabetes risk in late-onset patients. In the top quartile (age of onset>14), KIR A2 haplotype was overtransmitted (63.4%, odds ratio=1.73, P=0.024) and KIR B haplotypes were undertransmitted (41.1%, odds ratio=0.70, P=0.0052) to patients. The data suggest that inhibitory 'A' haplotypes are predisposing and stimulatory 'B' haplotypes confer protection in both DR3/DR4-negative and late-onset patient groups.

  11. [PAX3 gene mutation analysis for two Waardenburg syndrome typefamilies and their prenatal diagnosis].

    Science.gov (United States)

    Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

    2016-12-07

    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

  12. Family type, domestic violence and under-five mortality in Nigeria.

    Science.gov (United States)

    Titilayo, Ayotunde; Anuodo, Oludare O; Palamuleni, Martin E

    2017-06-01

    Nigeria still showcases unacceptably high under-five mortality despite all efforts to reduce the menace. Investigating the significant predictors of this occurrence is paramount. To examine the interplay between family setting, domestic violence and under-five death in Nigeria. Cross-sectional secondary data, the 2013 Nigeria Demographic and Health Survey, (NDHS) women dataset was utilized. Subset of 26,997 ever married and ever had childbirth experience respondents were extracted from the nationally representative women dataset. Dependent and Independent variables were recoded to suit the statistical analysis for the study. The study revealed that 33.7% of the respondents were in polygyny family setting; one-quarter of the ever married women reported ever experiencing one form of domestic violence or the other. The results of the logistic regressions indicate that family type and domestic violence were significant predictors of under-five children mortality in Nigeria. The study concludes that women who belong to polygyny family setting and who ever experienced sexual domestic violence are highly susceptible to experience under-five children mortality than their counterparts. The study recommends that strategies and policies aimed at improving child survival should strengthen women empowerment initiatives, discourage multiple wives and campaign against domestic violence in Nigeria.

  13. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

    Science.gov (United States)

    Sartorato, Paola; Lapeyraque, Anne-Laure; Armanini, Decio; Kuhnle, Ursula; Khaldi, Yasmina; Salomon, Rémi; Abadie, Véronique; Di Battista, Eliana; Naselli, Arturo; Racine, Alain; Bosio, Maurizio; Caprio, Massimiliano; Poulet-Young, Véronique; Chabrolle, Jean-Pierre; Niaudet, Patrick; De Gennes, Christiane; Lecornec, Marie-Hélène; Poisson, Elodie; Fusco, Anna Maria; Loli, Paola; Lombès, Marc; Zennaro, Maria-Christina

    2003-06-01

    We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons. Three missense mutations (G633R, Q776R, L979P) differently affect hMR function. The DNA binding domain mutant R633 exhibits reduced maximal transactivation, although its binding characteristics and ED(50) of transactivation are comparable with wild-type hMR. Ligand binding domain mutants R776 and P979 present reduced or absent aldosterone binding, respectively, which is associated with reduced or absent ligand-dependent transactivation capacity. Finally, P979 possesses a transdominant negative effect on wild-type hMR activity, whereas mutations G633R and Q776R probably result in haploinsufficiency in PHA1 patients. We conclude that hMR mutations are a common feature of autosomal dominant PHA1, being found in 70% of our familial cases. Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease.

  14. Family History of Type 2 Diabetes is Associated with Metabolic Syndrome in Obese Female Subjects

    Directory of Open Access Journals (Sweden)

    Ticiana Costa Rodrigues

    2008-08-01

    Full Text Available The aim of this study was to evaluate the association between the family history (FH of type 2 diabetes and metabolic syndrome (MetS in a group of non-diabetic obese female subjects. A cross-sectional study was conducted in 239 female patients with obesity, regularly attending the Internal Medicine Division’s outpatient clinic (Hospital de Clínicas de Porto Alegre, Brazil. The inclusion criteria were patients with body mass index ?30 kg/m2 and absence of type 2 diabetes. The FH was considered positive if a first degree relative had a diagnosis of diabetes. Seventy-four of 239 patients evaluated (30% had a positive FH for type 2 diabetes. Patients with positive FH had higher waist/hip ratio and MetS more often than patients with negative FH. FH of type 2 diabetes was associated with MetS in this sample of non-diabetic obese female patients. Waist/hip ratio and fasting plasma glucose, markers of insulin resistance, were also associated with FH of type 2 diabetes. The simple question: “Do you have a FH of type 2 diabetes?” may help to identify the obese patients that should be better evaluated and intensively treated with the objective of preventing type 2 diabetes.

  15. Rendimiento deportivo: glucógeno muscular y consumo proteico

    OpenAIRE

    Pérez-Guisado, Joaquín

    2008-01-01

    Para conseguir un óptimo rendimiento deportivo mediante el control de parámetros relacionados directa o indirectamente con la ingesta, puede resultar de gran importancia conocer y saber controlar el entramado metabólico relacionado con el glucógeno muscular y la optimización del consumo proteico. La recuperación de las reservas de glucógeno tras la realización del ejercicio físico es un proceso lento que puede llevar de 24 a 48 h según las pérdidas producidas. La velocidad de resíntesis del g...

  16. Los Enteógenos y la Ciencia

    OpenAIRE

    López-Pavillard, Santiago

    2003-01-01

    Las religiones se caracterizan por el desarrollo de complejas mitologías y ritos que hacen que olvidemos su origen primordial: la experiencia de lo Sagrado; fenómeno psíquico que el ser humano puede experimentar directamente mediante Estados Alterados de Consciencia. La experiencia enteogénica permite analizar lo Sagrado desde dentro. El artículo incluye las siguientes secciones: origen de la palabra enteógeno; una disciplina ilegal: cuestiones previas; el estudio de los enteógenos como una d...

  17. Relationship between serum concetrations of type III procollagen, hyluronic acid and histopathological findings in the liver of HCV-positive blood donors Relação entre concentrações séricas de procolágeno tipo III, ácido hialurônico com achados histopatológicos do fígado em doadores de sangue anti-HCV positivos

    Directory of Open Access Journals (Sweden)

    Vera Regina Rodrigues Camacho

    2007-06-01

    Full Text Available BACKGROUND: Serologic markers have been proposed for monitoring hepatic fibrosis in chronic liver disease. Among fibrosis markers, type III procollagen (PIIIP and hyaluronic acid have been studied in these patients. AIM: To evaluate the association between these serum markers with histological findings. METHODS: A prospective cross-sectional study was carried out with HCV-positive blood donors. The studied population included men and women whose age ranged from 18 to 60 years, with elevated liver function tests [ALT levels > 1.5 times the normal value and alterations of two or more of the following: any changes in the levels of ALT, aspartate aminotransferase, conjugated bilirrubin, gammaglobulin, gammaglutamyltranspeptidase, albumin, platelet count; alkaline phosphatase levels >1.5 times the normal value, or prothrombin time below 70% and above 60%]. Fourty-nine patients were submitted to liver biopsy, blood analysis of PIIIP, hyaluronic acid, besides liver function tests. RESULTS: Liver function tests were not associated with tissular fibrosis, as assessed by ALT (>1.5 times above normal, fibrosis risk=18.8%; RACIONAL: Marcadores sorológicos têm sido propostos para monitorar fibrose hepática em doença crônica do fígado. Dentre os marcadores de fibrose, ácido hialurônico e procolágeno tipo III têm sido estudados nestes pacientes. OBJETIVO: Avaliar a associação de marcadores séricos de fibrose com achados histológicos. MÉTODOS: Foi realizado estudo transversal prospectivo em doadores de sangue anti-HCV positivos. A população estudada incluiu homens e mulheres com idade entre 18-60 anos com provas de função hepática alteradas (níveis de alanina aminotransferase >1.5 vezes do normal e alterações de dois ou mais dos seguintes: qualquer alteração nos níveis de alanina aminotransferase, aspartato aminotransferase, bilirrubina conjugada, gamaglobulina, gamaglutamiltranspeptidase, albumina, plaquetas, níveis de fosfatase

  18. Screening for Partner Violence Among Family Mediation Clients: Differentiating Types of Abuse.

    Science.gov (United States)

    Cleak, Helen; Schofield, Margot J; Axelsen, Lauren; Bickerdike, Andrew

    2018-04-01

    Family mediation is mandated in Australia for couples in dispute over separation and parenting as a first step in dispute resolution, except where there is a history of intimate partner violence. However, validation of effective well-differentiated partner violence screening instruments suitable for mediation settings is at an early phase of development. This study contributes to calls for better violence screening instruments in the mediation context to detect a differentiated range of abusive behaviors by examining the reliability and validity of both established scales, and newly developed scales that measured intimate partner violence by partner and by self. The study also aimed to examine relationships between types of abuse, and between gender and types of abuse. A third aim was to examine associations between types of abuse and other relationship indicators such as acrimony and parenting alliance. The data reported here are part of a larger mixed method, naturalistic longitudinal study of clients attending nine family mediation centers in Victoria, Australia. The current analyses on baseline cross-sectional screening data confirmed the reliability of three subscales of the Conflict Tactics Scale (CTS2), and the reliability and validity of three new scales measuring intimidation, controlling and jealous behavior, and financial control. Most clients disclosed a history of at least one type of violence by partner: 95% reported psychological aggression, 72% controlling and jealous behavior, 50% financial control, and 35% physical assault. Higher rates of abuse perpetration were reported by partner versus by self, and gender differences were identified. There were strong associations between certain patterns of psychologically abusive behavior and both acrimony and parenting alliance. The implications for family mediation services and future research are discussed.

  19. Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study

    Directory of Open Access Journals (Sweden)

    S. Cyril

    2016-08-01

    Full Text Available Abstract Background Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. Methods A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Results Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6 and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9, but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8 than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p < 0.05 and after (β = 1.73; 95 % CI: 0.53, 2.94; p < 0.001 controlling for confounders, and an inverse relationship between consensual family type and child BMI after adjustment (β = −1.92; 95 % CI: −3.59, −0.24; p < 0.05. There was no significant relationship between parental BMI and family functioning, communication, family type or parenting style. Conclusion Children’s perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need

  20. Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study.

    Science.gov (United States)

    Cyril, S; Halliday, J; Green, J; Renzaho, A M N

    2016-08-03

    Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6) and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9), but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8) than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p < 0.05) and after (β = 1.73; 95 % CI: 0.53, 2.94; p < 0.001) controlling for confounders, and an inverse relationship between consensual family type and child BMI after adjustment (β = -1.92; 95 % CI: -3.59, -0.24; p < 0.05). There was no significant relationship between parental BMI and family functioning, communication, family type or parenting style. Children's perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need to adopt an intergenerational approach to promote a clear

  1. Familial hemiplegic migraine type 1 shows no hypersensitivity to nitric oxide

    DEFF Research Database (Denmark)

    Hansen, J.M.; Thomsen, L.L.; Olesen, J.

    2008-01-01

    patients do not show hypersensitivity of the NO-cGMP pathway, as characteristically seen in migraine patients with and without aura. This indicates that the pathophysiological pathways underlying migraine headache in FHM-1 may be different from the common types of migraine Udgivelsesdato: 2008/5......Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways....... Experimental studies have established that activation of the nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that CACNA1A mutations in patients with FHM-1 are associated with hypersensitivity to NO-cGMP pathway...

  2. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Motley, William W; Palaima, Paulius; Yum, Sabrina W; Gonzalez, Michael A; Tao, Feifei; Wanschitz, Julia V; Strickland, Alleene V; Löscher, Wolfgang N; De Vriendt, Els; Koppi, Stefan; Medne, Livija; Janecke, Andreas R; Jordanova, Albena; Zuchner, Stephan; Scherer, Steven S

    2016-06-01

    We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Resposta de testes de hipersensibilidade tardia utilizando PPD e outros antígenos em crianças e adolescentes saudáveis e infectados pelo HIV-1 e vacinados com BCG Delayed-type hypersensitivity skin test responses to PPD and other antigens among BCG-vaccinated HIV-1-infected and healthy children and adolescents

    Directory of Open Access Journals (Sweden)

    Natalia Moriya Xavier da Costa

    2011-10-01

    Full Text Available INTRODUÇÃO: A contagem de células CD4+ representa marcador da resposta imune celular em pacientes infectados pelo HIV-1. Testes cutâneos de hipersensibilidade tardia (DTH podem ser empregados para avaliar in vivo respostas celulares a antígenos comuns. MÉTODOS: DTH para derivado proteico purificado de tuberculina (PPD, esporotriquina, tricofitina, candidina e estreptoquinase/estreptodornase foram realizados. Foram testados crianças/adolescentes infectados pelo HIV-1 (n=36 e indivíduos saudáveis (n=56, soronegativos para HIV-1/HIV-2 pareados por sexo-idade, todos com cicatriz vacinal por BCG. Teste exato de Fisher foi aplicado (pINTRODUCTION: Among HIV-1-infected patients, CD4+ T cell counts are well-established markers of cell-mediated immunity. Delayed-type hypersensitivity (DTH skin tests can be used to evaluate in vivo cell-mediated immunity to common antigens. METHODS: DTH responses to tuberculin purified protein derivative (PPD, sporotrichin, trichophytin, candidin and streptokinase/streptodornase antigens were assessed. Thirty-six HIV-1-infected children/adolescents and 56 age- and sex-matched HIV-1/HIV-2-seronegative participants were tested. All participants had a BCG scar. Fisher's exact test was used to evaluate significant differences between groups (p<0.05. RESULTS: The main characteristics of the HIV-1 patients were as follows: median age 8.1 years; 20/36 were males; 35 were vertical transmission cases; 34 were AIDS cases under antiretroviral therapy; median viral load = 3.04 log10 copies/ml; median CD4+ T cell count = 701 cells/μl. A total of 25% (9/36 and 87.5% (49/56 of HIV-1-infected and healthy participants, respectively, displayed DTH reactivity to at least one antigen (p<0.001. Among HIV-1-infected participants, reactivity to candidin predominated (8/36, 22.2%, while PPD positivity prevailed among healthy participants (40/56, 71.4%. PPD reactivity in the HIV-1-positive group was 8.3% (p<0.01. The median PPD

  4. [Cloning and analysis of three genes encoding type II CHH family neuropeptides from Fennropenaeus chinensis].

    Science.gov (United States)

    Wang, Zai-Zhao; Xiang, Jian-Hai

    2003-10-01

    On the basis of sequence similarity, the crustean hyperglycemic hormone (CHH) family peptides have been classified into two types of hormones: type I and type II. Molt-inhibiting hormone (MIH) is a neuropeptide member of type II CHH family. Molting in shrimp is controlled by MIH and ecdysone. By inhibiting the synthesis of ecdysone in the Y-organ, MIH indirectly suppresses the molting activity of shrimp. In this study, we reported the cloning and characterization of 3 gene fragments encoding type II CHH family neuropeptides of the shrimp Fennropenaeus chinensis. According to the complementary DNA sequence of the mult-inhibiting hormone of Fennropenaeus chinensis, 3 primers were designed and synthesized. MP1 and MP2 are sense primers, and MP3 is anti-sense primer. Polymerase chain reaction was performed using genomic DNA of Fennropenaeus chinensis as template. Three PCR products were obtained using primers MP1 and MP3. Their sizes are about 600 bp, 850 bp, 1050 bp, respectively. A 580 bp PCR product was obtained using primers MP2 and MP3. All the 4 PCR products were cloned into pMD18-T vector. The recombinant clones were sequenced using ABI 310 Genetic Analyzer. After sequencing, all the DNA sequences were searched in the GenBank by Blast program to find similar gene sequences. The searching results revealed 3 DNA fragment sequences were of high similarity with CHH family neuropeptide genes from various crustean species. The 3 DNA fragments were named as NP1, NP2, and NP3. Their sizes were 540 bp, 601 bp, and 826 bp, respectively. Using the mRNA sequences with the most similarity to the 3 sequence fragments as reference, the gene structure of the 3 DNA fragment sequences was analyzed. The exons of 3 sequence fragments were aligned with their similar sequences by Clustal W program. Both NP1 and NP2 consisted of 1 intron and 2 exons. NP3 consisted of 2 introns and 3 exons. Sequence analysis suggested that these 3 products belonged to sequence fragments of neuropeptide

  5. Supportive and non-supportive interactions in families with a type 2 diabetes patient: an integrative review.

    Science.gov (United States)

    Bennich, Birgitte B; Røder, Michael E; Overgaard, Dorthe; Egerod, Ingrid; Munch, Lene; Knop, Filip K; Vilsbøll, Tina; Konradsen, Hanne

    2017-01-01

    Type 2 diabetes and its management affect the patient and the close family potentially causing either psychological distress or increased sense of responsibility and collaboration in these families. Interactions between patient and family play an important role in maintaining lifestyle changes and diabetes self-management. The purpose of this integrative review was to summarise and assess published studies on the intra-family perspective of supportive and non-supportive interactions in families with a type 2 diabetes patient. Included in the review were published qualitative and quantitative studies that examined the intra-family perspective on supportive and non-supportive interactions. We searched the literature from 2000 to 2016 and the search strategy comprised the following databases: Cochrane, PubMed, CINAHL, Web of Science, PsycINFO and Psyc-ARTICLES as well as hand searching of reference lists. Quality assessment, data extraction and analysis were undertaken on all included studies. We identified five eligible research papers. Employing content analysis three categories describing interactions were refined: Impact of practical action, impact of emotional involvement, and impact of communication content. Supportive interactions included encouraging communication and family collaboration in managing diet, medications, and blood glucose checking. Non-supportive interactions were visible irritation, nagging behaviour and refusing to share the burden of living with diabetes. The findings stress the importance of including both patient and family in clinical practice to target diabetes self-management adherence and well-being of the whole family. The majority of self-management occurs within the family environment. Therefore, the intra-family perspective of supportive and non-supportive interactions should be understood and addressed as the family members are interdependent and affected by each other. Future research assessing the impact of professional support

  6. Impact of Type 1 Diabetes Technology on Family Members/Significant Others of People With Diabetes.

    Science.gov (United States)

    Barnard, Katharine; Crabtree, Vincent; Adolfsson, Peter; Davies, Melanie; Kerr, David; Kraus, Amy; Gianferante, Danielle; Bevilacqua, Elizabeth; Serbedzija, George

    2016-07-01

    The aim was to explore the impact of diabetes-related technology to ensure that such devices are used in a way that returns maximum benefit from a medical and psychological perspective. Spouses and caregivers of people with type 1 diabetes were invited to complete an online questionnaire about their experiences with diabetes technologies used by their family members. Participants were recruited via the Glu online community website. Questions explored impact on daily living, frequency and severity of hypoglycemia, and diabetes-related distress. In all, 100 parents/caregivers and 74 partners participated in this survey. Average (mean) duration of living with a person with type 1 diabetes was 16 years (SD = 13) for partners, with duration of diabetes for children being 4.2 ± 3.2 years. Average duration of current therapy was 8.3 ± 7.3 years for adults and 3.4 ± 2.9 years for children. Of the participants, 86% partners and 82% parents/caregivers reported diabetes technology had made it easier for their family members to achieve blood glucose targets. Compared to partners, parents/caregivers reported more negative emotions (P technologies and their uptake is increasing but some downsides were reported. Barriers to uptake of technologies lie beyond the mechanics of diabetes management. Supporting users in using diabetes technology to achieve the best possible glycemic control, in the context of their own life, is crucial. Furthermore, understanding these issues with input from the type 1 diabetes community including family members and caregivers will help innovation and design of new technology. © 2016 Diabetes Technology Society.

  7. Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine

    DEFF Research Database (Denmark)

    Hansen, J.M.; Thomsen, L.L.; Marconi, R.

    2008-01-01

    the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 mu g kg(-1) min(-1) glyceryl trinitrate (GTN) over 20 min. We......Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested...... to be higher in patients, 1 (0, 3.8), than in controls, 0 (0, 1) (P = 0.056). During the delayed phase, the median peak headache occurred 4 h after the start of the infusion and was significantly higher in patients, 2.5 (0, 3), than in controls, 0 (0, 0) (P = 0.046). We found no difference in the AUC...

  8. Capture of comets from the Oort cloud into Halley-type and Jupiter-family orbits

    Science.gov (United States)

    Biryukov, E. E.

    2007-06-01

    This paper analyzes the capture of comets into Halley-type and Jupiter-family orbits from the nearparabolic flux of the Oort cloud. Two types of capture into Halley-type orbits are found. The first type is the evolution of near-parabolic orbits into short-period orbits (with heliocentric orbital periods P perturbations from the Galaxy, and then their semimajor axes decrease as a result of diffusion. The capture takes place, on average, in 500 revolutions of the comet about the Sun, whereas in the first case, the comet is captured, on average, after 12500 revolutions. The region of initial orbital perihelion distances q > 4 au is found to be at least as important a source of Halley-type comets as the region of perihelion distances q parabolic flux with q > 4 au. The analysis of the dynamic evolution of objects moving in short-period orbits shows that the distribution of Centaurs orbits agrees well with the observed distribution corrected for observational selection effects. Hence, the hypothesis associating the origin of Centaurs with the Edgeworth-Kuiper belt and the trans-Neptunian region exclusively should be rejected.

  9. Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting

    Directory of Open Access Journals (Sweden)

    Ofori SN

    2014-05-01

    Full Text Available Sandra N Ofori, Chioma N Unachukwu Department of Internal Medicine, University of Port Harcourt Teaching Hospital, Port Harcourt, Rivers State, Nigeria Abstract: Diabetes mellitus (DM is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM is a major risk factor for cardiovascular disease (CVD. The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members. Keywords: cardiovascular disease, multifactorial management

  10. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes.

    Science.gov (United States)

    Papazafiropoulou, Athanasia; Sotiropoulos, Alexios; Skliros, Eystathios; Kardara, Marina; Kokolaki, Anthi; Apostolou, Ourania; Pappas, Stavros

    2009-04-27

    A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D). The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05) and lower LDL-cholesterol levels (115.12 +/- 39.76 vs. 127.13 +/- 46.53 mg/dl, P = 0.006) than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  11. A family history of Type 1 alcoholism differentiates alcohol consumption in high cortisol responders to stress.

    Science.gov (United States)

    Brkic, Sejla; Söderpalm, Bo; Söderpalm Gordh, Anna

    2015-03-01

    The differentiation between high and low cortisol responders to stress is of interest in determining the risk factors which may, along with genetic vulnerability, influence alcohol intake. Thirty-two healthy volunteers, family history positive to alcoholism (FHP, n = 16) and family history negative (FHN, n = 16) attended two laboratory sessions during which alcohol or placebo was offered. There were no differences in consumption of alcohol or placebo between FHP and FHN subjects. STUDY 2: Fifty-eight healthy social drinkers, FHP (n = 27) and FHN (n = 31) attended two laboratory sessions. They were administered either alcohol or placebo in both sessions they attended. All subjects underwent either a stress task (the Trier Social Stress Test, TSST) or a stress-free period, at two separate occasions, before being offered beverage. After the salivary cortisol analysis, subjects in each group were divided into high (HCR) or low (LCR) cortisol responders. After stress, subjects who were FHP-HCR consumed more alcohol than FHN-HCR. There were no differences in the placebo intake between FHP and FHN subjects regardless of their cortisol response. This result indicates that stress promotes alcohol consumption only in subjects with a family history of Type 1 alcoholism who show an increase in cortisol response to stress. This behaviour is similar to that previously observed in alcohol dependent individuals after stress and thus could represent an endophenotype posing a risk for future development of alcohol use disorders. Copyright © 2015. Published by Elsevier Inc.

  12. Neurofibromatosis type I (von Recklinghausen′s disease: A family case report and literature review

    Directory of Open Access Journals (Sweden)

    Parichehr Ghalayani

    2012-01-01

    Full Text Available The term neurofibromatosis (NF is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1, also known as von Recklinghausen′s disease, is the most common type of NF, and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3,000 births. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of the NF1 patients. The aim of this article is to report the NF1 in a family with different manifestations and to review the literature.

  13. Family predictors of disease management over one year in Latino and European American patients with type 2 diabetes.

    Science.gov (United States)

    Chesla, Catherine A; Fisher, Lawrence; Skaff, Marilyn M; Mullan, Joseph T; Gilliss, Catherine L; Kanter, Richard

    2003-01-01

    Family context is thought to influence chronic disease management but few studies have longitudinally examined these relationships. Research on families and chronic illness has focused almost exclusively on European American families. In this prospective study we tested a multidimensional model of family influence on disease management in type 2 diabetes in a bi-ethnic sample of European Americans and Latinos. Specifically, we tested how baseline family characteristics (structure, world view, and emotion management) predicted change in disease management over one year in 104 European American and 57 Latino patients with type 2 diabetes. We found that emotion management predicted change in disease management in both groups of patients as hypothesized, while family world view predicted change in both ethnic groups but in the predicted direction only for European Americans. Examining family context within ethnic groups is required to elucidate unique cultural patterns. Attending to culturally unique interpretations of constructs and measures is warranted. The import of family emotion management, specifically conflict resolution, in disease management deserves further study to support clinical intervention development. Examining multiple domains of family life and multidimensional health outcomes strengthens our capacity to develop theory about family contexts and individual health.

  14. GenoSets: visual analytic methods for comparative genomics.

    Directory of Open Access Journals (Sweden)

    Aurora A Cain

    Full Text Available Many important questions in biology are, fundamentally, comparative, and this extends to our analysis of a growing number of sequenced genomes. Existing genomic analysis tools are often organized around literal views of genomes as linear strings. Even when information is highly condensed, these views grow cumbersome as larger numbers of genomes are added. Data aggregation and summarization methods from the field of visual analytics can provide abstracted comparative views, suitable for sifting large multi-genome datasets to identify critical similarities and differences. We introduce a software system for visual analysis of comparative genomics data. The system automates the process of data integration, and provides the analysis platform to identify and explore features of interest within these large datasets. GenoSets borrows techniques from business intelligence and visual analytics to provide a rich interface of interactive visualizations supported by a multi-dimensional data warehouse. In GenoSets, visual analytic approaches are used to enable querying based on orthology, functional assignment, and taxonomic or user-defined groupings of genomes. GenoSets links this information together with coordinated, interactive visualizations for both detailed and high-level categorical analysis of summarized data. GenoSets has been designed to simplify the exploration of multiple genome datasets and to facilitate reasoning about genomic comparisons. Case examples are included showing the use of this system in the analysis of 12 Brucella genomes. GenoSets software and the case study dataset are freely available at http://genosets.uncc.edu. We demonstrate that the integration of genomic data using a coordinated multiple view approach can simplify the exploration of large comparative genomic data sets, and facilitate reasoning about comparisons and features of interest.

  15. Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

    DEFF Research Database (Denmark)

    Hovden, Silje; Jespersen, Marie Louise; Nissen, Peter H

    2016-01-01

    Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and fo...

  16. Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

    Science.gov (United States)

    Souza, Cynthia C.; Hirotsu, Camila; Neves, Eduardo L.A.; Santos, Lidiane C.L.; Costa, Iandra M.P.F.; Garcez, Catarina A.; Nunes, Paula S.; Araujo, Adriano A.S.

    2015-01-01

    Objectives: Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Methods: Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. Results: 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m2); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Conclusions: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. Citation: Souza CC, Hirotsu C, Neves EL, Santos LC, Costa IM, Garcez CA, Nunes PS, Araujo AA. Sleep pattern in charcot-marie-tooth disease type 2: report of family case series. J Clin Sleep Med 2015;11(3):205–211. PMID:25515278

  17. [Two families of X-linked lymphoproliferative disease type 1 characterized by agammaglobulinemia].

    Science.gov (United States)

    Li, W Y; Chen, J S; Zhao, Q; Dai, R X; Wang, Y P; Zhao, H Y; Chen, X M; Xue, X H; Sun, X Y; Tang, X M; Zhang, Y; Ding, Y; Zhao, X D; Zhang, Z Y

    2017-05-04

    Objective: To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1). Method: Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. The absolute and relative numbers of lymphocyte subsets, T lymphocyte proliferative response, SAP protein expression were assessed by flow cytometry. Quantification of signal joint TCR rearrangementexcision circle (sjTRECs), CDR3 spectratyping of TCRvβ and gene mutation of SH2D1A were detected by PCR based on genomic DNA or cDNA. Result: Four male patients from two families were diagnosed with XLP-1. The ages of disease onset were more than 1 year, more than 1 year, more than 1 month and 6 months. The ages at diagnosis were nine years and ten months, sixteen years and eight months, fourteen years and ten months, four years and nine months. All patients had recurrent infections and EBV infection. Patients 1, 2, and 3 had agammaglobulinemia and Patient 4 had hypogammaglobulinemia. Chest CT scan showed all patients had atelectasis and pneumonia, and Patient 3 had bronchiectasis. Patient 3 was diagnosised as Burkitt lymphoma. For immunological function, all patients exhibited reduced CD4/CD8 ratios, increased numbers of exhausted T lymphocyte, decreased number of NK cell. The numbers of total B lymphocyte and naïve B lymphocyte were normal, but the number of memory B lymphocyte declined in all cases. Four patients' copy numbers of sjTRECs were low and CDR3 spectratypings of TCRvβ showed mildly skewed. But their T lymphocyte proliferative response was normal. SAP protein expression in four cases were measured by flow cytometry. Two patients from Family A were absent and two patients from Family B showed

  18. Clinical Guidance on Screening Chronic Kidney Disease in Type 2 Diabetic Patients for Family Physicians

    Directory of Open Access Journals (Sweden)

    Seyed Esmaeil Managheb

    2015-10-01

    Full Text Available Incidence of diabetes is increasing in developing countries as well as Iran. Half of the patients are not aware of their disease so screening of diabetes is necessary. Lifestyle changes in society, high-saturated fat diet and decreased physical activity are the factors that influence the growing rate of diabetes in Iran.1 The need for addressing type 2 diabetes has been clarified for family physicians.2 Diabetes is a common disease that is associated with significant morbidity and mortality. It has an asymptomatic stage that may be present for up to several years before diagnosis.3 Diabetes is the leading cause of kidney disease.4 In a study among patients over 45 years with type 2 diabetes, these results were reported: 22% suffered from retinopathy, 7% had impaired vision, 6% had kidney diseases, 9% had clinical symptoms, and 19.1% were at risk for foot ulcers.5 Early treatment of type 2 diabetes can reduce or delay complications.6 Optimal glycemia and BP are important in the prevention of diabetic chronic kidney disease (CKD.4 Therapeutic goals in patients with complications, such as CKD, include maintaining renal function and stopping the trend of renal deterioration.5 Progression of diabetic nephropathy can be slowed through the use of some medications.4 How to screen and manage chronic kidney disease in patients with type 2 diabetes is shown in Figure 1.

  19. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

  20. Reducing health risk in family members of patients with type 2 diabetes: views of first degree relatives.

    LENUS (Irish Health Repository)

    Whitford, David L

    2009-01-01

    BACKGROUND: Patients with type 2 diabetes can have an important role in discussing health risk within families. This study aimed to establish the acceptability to first degree relatives towards their relative with type 2 diabetes intervening as health promoters in their own families, using the Health Belief Model as a theoretical framework for evaluation. METHODS: Cross-sectional questionnaire design. Survey questionnaire for first degree relative (sibling or child) mailed to a random sample of patients with type 2 diabetes registered with an urban hospital diabetes clinic (n = 607 eligible patients). Patients were asked to pass on questionnaires to one to two first degree relatives. RESULTS: Questionnaires were returned from 257 families (42% response rate) with two responses provided by 107 families (a total of 364 questionnaires). The majority (94%) of first degree relatives of patients with type 2 diabetes would like to be informed about reducing their risk. Half (48%) of respondents reported being spoken to by a relative with type 2 diabetes about their risk of diabetes. Those spoken to were more likely to see themselves at risk of diabetes, to worry about developing diabetes and to view diabetes as a serious condition. CONCLUSIONS: A role for patients with type 2 diabetes in discussing health risk in their family appears to be acceptable to many relatives. Discussion of risk and interventions to reduce health risk with their relatives should be encouraged in patients with type 2 diabetes.

  1. Everyday experience of families three years after diagnosis of type 1 diabetes in children: a research paper.

    Science.gov (United States)

    Wennick, Anne; Lundqvist, Anita; Hallström, Inger

    2009-06-01

    The purpose of this study was to illuminate the everyday experience of family members 3 years after a child had been diagnosed as having Type 1 diabetes. Qualitative interviews were conducted with 35 family members in 11 families and analyzed using a content analysis. The results were identified as eight categories describing the family member's everyday experiences: (a) knowledge and tried experience give skills, (b) capricious blood sugar level, (c) ambivalent parenthood, (d) stressful daily planning, (e) physical activity as pleasure and annoyance, (f) fear of losing control, (g) a private and public concern, and (h) needed and not needed medical service. Three years after a child was diagnosed as having diabetes, the illness had become a natural element of the families' life; however, it affected the daily life of family members to different degrees.

  2. HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes.

    Science.gov (United States)

    Parkkola, Anna; Laine, Antti-Pekka; Karhunen, Markku; Härkönen, Taina; Ryhänen, Samppa J; Ilonen, Jorma; Knip, Mikael

    2017-01-01

    Genetic predisposition could be assumed to be causing clustering of autoimmunity in individuals and families. We tested whether HLA and non-HLA loci associate with such clustering of autoimmunity. We included 1,745 children with type 1 diabetes from the Finnish Pediatric Diabetes Register. Data on personal or family history of autoimmune diseases were collected with a structured questionnaire and, for a subset, with a detailed search for celiac disease and autoimmune thyroid disease. Children with multiple autoimmune diseases or with multiple affected first- or second-degree relatives were identified. We analysed type 1 diabetes related HLA class II haplotypes and genotyped 41 single nucleotide polymorphisms (SNPs) outside the HLA region. The HLA-DR4-DQ8 haplotype was associated with having type 1 diabetes only whereas the HLA-DR3-DQ2 haplotype was more common in children with multiple autoimmune diseases. Children with multiple autoimmune diseases showed nominal association with RGS1 (rs2816316), and children coming from an autoimmune family with rs11711054 (CCR3-CCR5). In multivariate analyses, the overall effect of non-HLA SNPs on both phenotypes was evident, associations with RGS1 and CCR3-CCR5 region were confirmed and additional associations were implicated: NRP1, FUT2, and CD69 for children with multiple autoimmune diseases. In conclusion, HLA-DR3-DQ2 haplotype and some non-HLA SNPs contribute to the clustering of autoimmune diseases in children with type 1 diabetes and in their families.

  3. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Apostolou Ourania

    2009-04-01

    Full Text Available Abstract Background A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D. The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. Methods A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. Results The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05 and lower LDL-cholesterol levels (115.12 ± 39.76 vs. 127.13 ± 46.53 mg/dl, P = 0.006 than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P 2, P = 0.08, higher prevalence of dyslipidemia (49.8 vs. 44.6%, P = 0.06 and retinopathy (17.9 vs. 14.5%, P = 0.08 compared with patients with no diabetic relatives. No difference in the degree of metabolic control and the prevalence of chronic complications were observed. Conclusion The present study showed an excess maternal transmission of T2D in a sample of Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  4. [Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

    Science.gov (United States)

    Wu, Qinghua; Shi, Hui-rong; Liu, Ning; Lu, Ning; Jiang, Miao; Zhao, Zhen-hua; Kong, Xiang-dong

    2012-08-01

    To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type I (OCA1). Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed. PCR was used to amplify the exons, exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents. The products were further analyzed by direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of the probands or their parents were determined. Compound heterozygous mutations were detected in all pedigrees, which included 9 mutations, namely R76Q, c.232insGGG, R116X, R278X, R299H, c.929-930insC, IVS2-11delTT, Q399X and W400L. Among these, R76Q and Q399X were identified for the first time. Seven families have requested prenatal diagnoses. One fetus was detected with double mutations of TYR gene, and the parents have decided to have therapeutic abortion. Two fetuses did not carry the mutations identified in the probands, whilst other four fetuses were carriers of heterozygous mutations. Six families decided to carry on with the pregnancies. And the neonates did not show any symptoms of OCA after birth. Direct sequencing of the TYR gene is helpful for genetic counseling, prenatal diagnosis and carriers screening of OCA1.

  5. Shaking the myosin family tree: biochemical kinetics defines four types of myosin motor.

    Science.gov (United States)

    Bloemink, Marieke J; Geeves, Michael A

    2011-12-01

    Although all myosin motors follow the same basic cross-bridge cycle, they display a large variety in the rates of transition between different states in the cycle, allowing each myosin to be finely tuned for a specific task. Traditionally, myosins have been classified by sequence analysis into a large number of sub-families (∼35). Here we use a different method to classify the myosin family members which is based on biochemical and mechanical properties. The key properties that define the type of mechanical activity of the motor are duty ratio (defined as the fraction of the time myosin remains attached to actin during each cycle), thermodynamic coupling of actin and nucleotide binding to myosin and the degree of strain-sensitivity of the ADP release step. Based on these properties we propose to classify myosins into four different groups: (I) fast movers, (II) slow/efficient force holders, (III) strain sensors and (IV) gates. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I

    Directory of Open Access Journals (Sweden)

    MCH Janssen

    2014-06-01

    Full Text Available We report three adult sibs (one female, two males with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A>G, c.1154C>T. These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members.

  7. The use of the codes from MCU family for calculations of WWER type reactors

    International Nuclear Information System (INIS)

    Abagijan, L.P.; Alexeyev, N.I.; Bryzgalov, V.I.; Gomin, E.A.; Glushkov, A.E.; Gorodkov, S.S.; Gurevich, M.I.; Kalugin, M.A.; Marin, S.V.; Shkarovsky, D.A.; Yudkevich, M.S.

    2000-01-01

    The MCU-RFFI/A and MCU-REA codes developed within the framework of the long term MCU project are widely used for calculations of neutron physic characteristics of WWER type reactors. Complete descriptions of the codes are available in both Russian and English. The codes are verified and validated by means of the comparison of calculated results with experimental data and mathematical benchmarks. The codes are licensed by Russian Nuclear and Criticality Safety Regulatory Body (Gosatomnadzor RF) (Code Passports: N 61 of 17.10.1966 and N 115 of 02.03.2000 accordingly)). The report gives examples of WWER reactor physic tasks important for practice solved using the codes from the MCU family. Some calculational results are given too. (Authors)

  8. Plesiomonasshigelloides and Aeromonadaceae family pathogens isolated from marine mammals of Southern and Southeastern Brazilian coast Plesiomonasshigelloides e patógenos da família Aeromonadaceae isolados de mamíferos marinhos da costa sul e sudeste do Brasil

    Directory of Open Access Journals (Sweden)

    Christiane S. Pereira

    2008-12-01

    Full Text Available The aquatic environment is the habitat of many microorganisms, including Plesiomonasshigelloides and Aeromonas species which are pathogenic to human and animals. In the present investigation, we evaluated the occurrence of these pathogens from marine mammals beached or accidentally captured by fishing net in southeastern (RJ and southern (RS coastal Brazilian regions. A total of 198 swabs from 27 specimens of marine mammals, including 11 different species, were collected by DEENSP and GEMARS-CECLIMAR/UFRGS Institutes and sent to LRNCEB/IOC/FIOCRUZ. The samples were enriched in Alkaline Peptone Water (APW added with 1% of sodium chloride (NaCl, APW plus 3% NaCl and incubated at 37ºC for 18-24 hours. Following, samples were streaked onto Pseudomonas-Aeromonas Selective Agar Base (GSP Agar and suspected colonies were biochemically characterized. The results revealed 114 strains, including ten Aeromonas species and P.shigelloides. The main pathogens isolated were A.veronii biogroup veronii (19.3%, A. caviae (12.3%, A. hydrophila (9.6% and P.shigelloides (7%. The pathogens were isolated in both coastal and offshore marine mammals. These data point the importance of epidemiological surveillance and microbiological monitoring and reinforce the need to implement environmental protection programs, especially related to endangered cetacean species.O ambiente aquático é o habitat de vários microrganismos, incluindo Plesiomonasshigelloides e espécies de Aeromonas, os quais são patogênicos para o homem e os animais. Na presente investigação, foi avaliada a ocorrência destes patógenos a partir de swabs coletados de mamíferos marinhos encalhados ou capturados acidentalmente em redes de pesca nas regiões costeiras do sudeste (RJ e sul (RS do Brasil. O total de 198 swabs de 27 espécimes de mamíferos marinhos, incluindo 11 espécies distintas, foi coletado por profissionais dos institutos DEENSP, GEMARS-CECLIMAR/UFRGS e enviado ao LRNCEB

  9. Family-of-Origin Relationships and Self-Differentiation among University Students with Bulimic-Type Behaviors.

    Science.gov (United States)

    Levy, Patricia A.; Hadley, Barbara J.

    1998-01-01

    Examines the difference between undergraduate students who self-reported a high incidence of bulimic-type behaviors and those students who reported a low incidence of bulimic type behaviors. Results show that females exhibiting bulimic behaviors tend to fuse with their families and lack personal authority, whereas males indicated fusion and…

  10. A study of Chinese guanxi type in family business from the perspective of power-based and leadership behaviours

    Directory of Open Access Journals (Sweden)

    Hsien-Tang Tsai

    2013-12-01

    Full Text Available In Chinese society, a guanxi network is based on kinship or family ties of affection. This special pattern has a historical background and is one of the important factors that have enabled many Taiwanese enterprises to continue operating through the decades. The personal links between people create a kind of social network known as guanxi, which is a unique characteristic of Chinese society. The study aims to investigate the guanxi type of managers in Taiwanese family businesses, and examines how the guanxi type may moderate the correlation between the managers’ power and the influence tactics used to handle subordinates. We surveyed 178 managers who are working in Taiwanese family business. The results of the hierarchical regression modeling showed that as managers have more position power, especially those exercising the family guanxi, they are more likely to be assertive in their treatment of their subordinates. Managers possessing the friend guanxi often play a bridging role to complement the function of those managers with the family guanxi, who may use the assertive approach too strongly. Managers of this type can provide a “lubricant effect” and keep the family business running smoothly. We recommend that family business owners should pay more attention to relationship harmony and internal communication channels in their organisations.

  11. Particularidades de la medición de presión sonora y vibraciones en grupos electrógenos MAN 18 V48/60 B // Distinctive features for sound pressure level and vibration measurements over engine generator sets type MAN 18 v48/60 b

    Directory of Open Access Journals (Sweden)

    Yanexi Cepero‐Aguilera

    2011-01-01

    Full Text Available Como parte de las líneas de investigación del Centro de Estudios en Ingeniería de Mantenimiento, sedesarrolla un proyecto de investigación encaminado a establecer las pautas para la evaluación de lacondición de grupos electrógenos. El presente artículo muestra las particularidades de la mediciónde sonido y vibraciones sobre un Grupo Electrógeno MAN 18 V48/60 B. Se analiza lo indicado en elestándar ISO 3744 concluyéndose con la imposibilidad práctica de su aplicación en el entornoindustrial y para grandes máquinas como lo es el caso de los grupos electrógenos MAN 18 V48/60 B.El interés de esta investigación se enfoca al generador del grupo electrógeno y por ello no obstante,se efectuaron mediciones de presión sonora orientando el micrófono hacia los cojinetes de este,sobre los cuales también se registraron sus vibraciones siguiendo lo indicado en el estándar ISO8528-9. El análisis comparativo de los registros espectrales de presión sonora y de vibracionesobligó a convertir los espectros FFT en espectros de ancho de banda proporcional constante. Comoresultado fundamental se obtiene la no correlación de las frecuencias espectrales de presión sonoracon las de vibraciones y una evaluación preliminar del generador exhibiendo una condición normal.Palabras claves: nivel de presión sonora, medición de vibraciones, ancho de banda proporcionalconstante, grupos electrógenos._________________________________________________________________AbstractA research project for condition monitoring of engine generator sets is developed as part of mainresearches at Maintenance Engineering Research Center. Sound pressure level and vibrationmeasurements over an engine generator set MAN 18 V48/60 B are made with the goal of identifythose frequencies present in both, sound pressure level and vibration spectra which could give thepossibility to use sound pressure level as a symptom parameter because of the continuous feature ofthis kind of

  12. Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

    International Nuclear Information System (INIS)

    Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier

    2005-01-01

    The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution

  13. Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) Attenuates Type 2 Diabetes and Its Associated Cardiomyopathy.

    Science.gov (United States)

    Bhattacharjee, Niloy; Khanra, Ritu; Dua, Tarun K; Das, Susmita; De, Bratati; Zia-Ul-Haq, M; De Feo, Vincenzo; Dewanjee, Saikat

    2016-01-01

    Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) rhizome has been claimed to possess antidiabetic activity in the ethno-medicinal literature in India. Therefore, present experiments were carried out to explore the protective role of edible (aqueous) extract of S. roxburghiana rhizome (SR) against experimentally induced type 2 diabetes mellitus (T2DM) and its associated cardiomyopathy in Wistar rats. SR was chemically characterized by GC-MS analysis. Antidiabetic activity of SR (50 and 100 mg/kg, orally) was measured in high fat diets (ad libitum) + low-single dose of streptozotocin (35 mg/kg, intraperitoneal) induced type 2 diabetic (T2D) rat. Fasting blood glucose level was measured at specific intermissions. Serum biochemical and inflammatory markers were estimated after sacrificing the animals. Besides, myocardial redox status, expressions of signal proteins (NF-κB and PKCs), histological and ultrastructural studies of heart were performed in the controls and SR treated T2D rats. Phytochemical screening of the crude extract revealed the presence of phenolic compounds, sugar alcohols, sterols, amino acids, saturated fatty acids within SR. T2D rats exhibited significantly (p disintegration, oxidative stress, vascular inflammation and prevented the activation of oxidative stress induced signaling cascades leading to cell death. Histological and ultra-structural studies of cardiac tissues supported the protective characteristics of SR. From the present findings it can be concluded that, SR could offer protection against T2DM and its associated cardio-toxicity via multiple mechanisms viz. hypoglycemic, antioxidant and anti-inflammatory actions.

  14. Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

    Energy Technology Data Exchange (ETDEWEB)

    Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier, E-mail: poch@igbmc.u-strasbg.fr [Département de Biologie et Génomiques Structurales, UMR 7104, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP Strasbourg, 1 Rue Laurent Fries, 64404 Illkirch (France)

    2005-10-01

    The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution.

  15. Impact of Education on Disease Knowledge and Glycaemic Control Among Type 2 Diabetic Patients in Family Practice

    OpenAIRE

    Samira Herenda; Husref Tahirović; Džemal Poljaković

    2007-01-01

    In patients with diabetes type 2, good knowledge about disease often doesn’t follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disea...

  16. Impaired Fasting Glucose in Omani Adults with no Family History of Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Sawsan Al-Sinani

    2014-05-01

    Full Text Available Objectives: The aim of this study was to estimate the prevalence of impaired fasting glucose (IFG among Omani adults with no family history (FH of diabetes and to investigate the factors behind the risk of developing type 2 diabetes (T2D, while excluding a FH of diabetes. Methods: A total of 1,182 Omani adults, aged ≥40 years, visited the Family Medicine & Community Health Clinic at Sultan Qaboos University Hospital, Oman, on days other than the Diabetes Clinic days, from July 2010 to July 2011. The subjects were interviewed and asked if they had T2D or a FH of T2D. Results: Only 191 (16% reported no personal history of T2D or FH of the disease. Of these, anthropometric and biochemical data was complete in 159 subjects. Of these a total of 42 (26% had IFG according to the American Diabetes Association criteria. Body mass index, fasting insulin, haemoglobin A1C and blood pressure (BP, were significantly higher among individuals with IFG (P <0.01, P <0.05, P <0.01 and P <0.01, respectively. In addition, fasting insulin, BP and serum lipid profile were correlated with obesity indices (P <0.05. Obesity indices were strongly associated with the risk of IFG among Omanis, with waist circumference being the strongest predictor. Conclusion: Despite claiming no FH of diabetes, a large number of Omani adults in this study had a high risk of developing diabetes. This is possibly due to environmental factors and endogamy. The high prevalence of obesity combined with genetically susceptible individuals is a warning that diabetes could be a future epidemic in Oman.

  17. Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series.

    Science.gov (United States)

    Souza, Cynthia C; Hirotsu, Camila; Neves, Eduardo L A; Santos, Lidiane C L; Costa, Iandra M P F; Garcez, Catarina A; Nunes, Paula S; Antunes, Adriano

    2015-03-15

    Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m(2)); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. © 2014 American Academy of Sleep Medicine.

  18. Self-Esteem of Rural Teens: Results for Three Family Types.

    Science.gov (United States)

    Hall, Anita M.; Rowe, George P.

    1991-01-01

    A total of 108 (of 200) adolescents completed the Coopersmith Self-Esteem Inventory and family characteristics questionnaire. Results showed that it is not the structure of the family but the degree of discord within the family that influences self-esteem. (Author/JOW)

  19. Average happiness and dominant family type in Western Europe around 2000

    NARCIS (Netherlands)

    G.R. Brulé (Gaël); R. Veenhoven (Ruut)

    2014-01-01

    textabstractResearch on the relation between family and happiness has focused on the micro level and considered the effects of an individual’s place in the family system, such as whether or not one is married and exchange of support with kin. Macro level differences in the family system as such have

  20. Types of Family Caregiving and Daily Experiences in Midlife and Late Adulthood: The Moderating Influences of Marital Status and Age.

    Science.gov (United States)

    Wong, Jen D; Shobo, Yetunde

    2017-07-01

    Guided by the life-course perspective, this study contributes to the family caregiving, aging, and disability literature by examining the daily experiences of three types of family caregivers in midlife and late adulthood. A sample of 162 caregivers from the National Survey of Midlife in the United States study completed interviews, questionnaires, and a Daily Diary Study. Multilevel models showed the patterns of daily time use did not differ by caregiver types. Caregivers of sons/daughters with developmental disabilities (DD) experienced more daily stressors than caregivers of parents with health conditions (HC) and caregivers of spouses with HC. Unmarried caregivers of sons/daughters with DD reported spending more time on daily leisure activities and exhibited greater daily stressor exposure than other family caregivers. Age did not moderate the associations between caregiver types and daily experiences. Findings highlight the important consideration of the caregivers' characteristics to better determine the quality of their daily experiences in midlife and late adulthood.

  1. A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families

    Energy Technology Data Exchange (ETDEWEB)

    Marsh, D.J.; Andrew, S.; Richardson, A.L. [Royal North Shore Hospital, St. Leonards (Australia)]|[Univ. of Sydney, New South Wales (Australia)] [and others

    1994-09-15

    Multiple endocrine neoplasia type 2A (MEN2A) and familial medullary thyroid carcinoma (FMTC) are autosomal dominant inherited cancer syndromes with incomplete penetrance. Following the identification of mutations in the RET proto-oncogene that segregate with the disease phenotype in MEN2A, MEN2B, and FMTC, genetic screening of individuals with mutations in RET may be performed. The authors have employed restriction endonuclease digestion of polymerase chain reaction products as an alternative to sequence analysis for rapid identification of mutant gene carriers in families in which MEN2A and RMTC are segregating. Twenty-one Australasian MEN2A and FMTC families have been screened for mutations in a cysteine-rich region of the RET proto-oncogene. Seven independent mutations were identified in key individuals in 16 of these families. The authors have identified a mutation in codon 620, 2053 T {r_arrow}C (Cys620Arg), and two mutations in codon 634 of exon 11 of RET, 2095 T {r_arrow} C (Cys634Arg) and 2096 G {r_arrow} A (Cys634Tyr), all three of which were present in both MEN2A and FMTC families. 7 refs., 1 fig., 1 tab.

  2. The association of age, gender, ethnicity, family history, obesity and hypertension with type 2 diabetes mellitus in Trinidad.

    Science.gov (United States)

    Nayak, B Shivananda; Sobrian, Arianne; Latiff, Khalif; Pope, Danielle; Rampersad, Akash; Lourenço, Kodi; Samuel, Nichole

    2014-01-01

    To assess the impact of risk factors such as age, gender, ethnicity, family history, body mass index (BMI), waist circumference and hypertension, on the development of type 2 diabetes mellitus in the Trinidadian population. A cross-sectional case control study comprised 146 non-diabetics and 147 type 2 diabetics ≥18 years of age, from North Central, South West and Eastern regions of Trinidad. Cross-tabulations revealed a significant difference between type 2-diabetes and age at pdifference at pdifference was observed between type 2 diabetes and gender and BMI. Age was the most significant risk factor of type 2 diabetes. Therefore it can be concluded that family history, ethnicity, waist circumference and hypertension are more significant risk factors of this disease than BMI and gender in the Trinidadian population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  3. 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

  4. Mecanismos de defensa en las interacciones planta-patógeno

    DEFF Research Database (Denmark)

    Madriz-Ordeñana, Kenneth

    1998-01-01

    consecuencia de un proceso de re- conocimiento específico entre la planta y el patógeno. En este trabajo se describen los procesos más importan- tes que determinan la especificidad de una interacción planta-patógeno.Se incluyen también las etapas que ini- cian con el reconocimiento del patógeno por parte de la...

  5. A Model for the Common Origin of Jupiter Family and Halley Type Comets

    Science.gov (United States)

    Emel'yanenko, V. V.; Asher, D. J.; Bailey, M. E.

    2013-02-01

    A numerical simulation of the Oort cloud is used to explain the observed orbital distributions and numbers of Jupiter-family (JF) and Halley-type (HT) short-period (SP) comets. Comets are given initial orbits with perihelion distances between 5 and 36 au, and evolve under planetary, stellar and Galactic perturbations for 4.5 Gyr. This process leads to the formation of an Oort cloud (which we define as the region of semimajor axes a > 1,000 au), and to a flux of cometary bodies from the Oort cloud returning to the planetary region at the present epoch. The results are consistent with the dynamical characteristics of SP comets and other observed cometary populations: the near-parabolic flux, Centaurs, and high-eccentricity trans-Neptunian objects. To achieve this consistency with observations, the model requires that the number of comets versus initial perihelion distance is concentrated towards the outer planetary region. Moreover, the mean physical lifetime of observable comets in the inner planetary region ( q observed HT comets and nearly half of observed JF comets come from the Oort cloud, and initially (4.5 Gyr ago) from orbits concentrated near the outer planetary region. Comets that have been in the Oort cloud also return to the Centaur (5 observers. The model provides a unified picture for the origin of JF and HT comets. It predicts that the mean physical lifetime of all comets in the region q < 1.5 au is less than ˜200 revolutions.

  6. Hidrógeno: Aplicación en motores de combustión interna

    OpenAIRE

    Fàbrega Ramos, Marc

    2009-01-01

    En el presente Proyecto Final de Carrera se pretende realizar un estudio sobre los motores de combustión interna de hidrógeno y su viabilidad de introducción en el mercado. En el presente Proyecto Final de Carrera se pretende realizar un estudio sobre los motores de combustión interna de hidrógeno y su viabilidad de introducción en el mercado. No debemos confundir los motores de combustión interna de hidrógeno con los de pila de combustible de hidrógeno. En la combustión,...

  7. Shared Genetic Basis for Type 1 Diabetes, Islet Autoantibodies, and Autoantibodies Associated With Other Immune-Mediated Diseases in Families With Type 1 Diabetes

    DEFF Research Database (Denmark)

    Brorsson, Caroline Anna; Pociot, Flemming

    2015-01-01

    Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim of this s......Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim...... of this study was to investigate whether susceptibility loci identified in genome-wide association studies (GWAS) of T1D were also associated with autoantibody positivity in individuals with diabetes. Fifty single nucleotide polymorphisms (SNPs) were genotyped in 6,556 multiethnic cases collected by the Type 1...

  8. The relationship between type 2 diabetes family history, body composition and blood basal glycemia in sedentary people.

    Science.gov (United States)

    Bianco, Antonino; Pomara, Francesco; Raccuglia, Margherita; Bellafiore, Marianna; Battaglia, Giuseppe; Filingeri, Davide; Paoli, Antonio; Palma, Antonio

    2014-02-01

    The aim of this study was to verify whether there is a positive correlation between family history to type 2 diabetes mellitus and body mass and composition, and alterations in blood basal glycaemia levels in sedentary male and female. Anthropometric variables, blood parameters, body composition and body surface area were evaluated on 183 male and 237 female sedentary individuals. Participants were classified into two groups: FH(+) (family history positive) and FH(-) (familiar history negative) according to their medical history. The FH(+) group showed higher values of body mass and body surface area than FH(-) group. These differences were statistically significant (p composition correlate positively to family history to type 2 diabetes. The relationship between family history and body composition is particularly evident in young FH(+) female. Thus, as family history might represent a risk factor for the development of type 2 diabetes, this could be considered as an important parameter able to predict the onset of the disease itself. This knowledge could be used to improve preventive interventions (i.e. increasing levels of physical activity) promoting healthy lifestyle.

  9. Colágeno na cartilagem osteoartrótica

    Directory of Open Access Journals (Sweden)

    Ana Paula P. Velosa

    2003-06-01

    Full Text Available A cartilagem articular é um tecido altamente especializado, composto por células, os condrócitos, e um conjunto de macromoléculas, como o colágeno e os proteoglicanos. O colágeno é uma proteína fibrilar que garante resistência ao tecido, enquanto os proteoglicanos têm a função de mola biológica, sendo responsáveis pela compressibilidade da cartilagem. A complexa interação entre estas duas proteínas garante a elasticidade. Estas características específicas da cartilagem são essenciais para amortecer as grandes forças de impacto a que as articulações diartrodiais estão submetidas, sem muito gasto de energia, visto tratar-se de um tecido avascular. Em processos artrósicos ocorre um desequilíbrio entre a produção de componentes da matriz extracelular e destruição pelas metaloproteases, levando à degradação e perda do tecido cartilaginoso. A fase inicial da osteoartrose é marcada por perda de fragmentos de proteoglicanos para o líquido sinovial, aumento dos colágenos tipo II e tipo VI, aparecimento dos colágenos I e III, não típicos da cartilagem, e diminuição do colágeno tipo IX, que é importante para manter a integridade da matriz extracelular, além do entumescimento da cartilagem. Como conseqüência, a cartilagem perde suas características específicas, levando a alterações na função articular. A evolução da doença promove diminuição significativa das proteínas, até mesmo do colágeno tipo XI, que tem localização mais interna na estrutura da fibrila heterotípica, e, portanto levando até a exposição do osso. Até o momento, o tratamento da osteoartrose está baseado principalmente no controle da dor e/ou inflamação, não diminuindo ou impedindo a degradação da cartilagem articular. Neste aspecto a perspectiva de tratamento futuro da osteoartrose estaria na utilização de inibidores das metaloproteases associadas a condroprotetores interferindo no "turnover" da cartilagem e

  10. Body image mediates negative family climate and deteriorating glycemic control for single adolescents with type 1 diabetes.

    Science.gov (United States)

    Hartl, Amy C; Seiffge-Krenke, Inge; Laursen, Brett

    2015-12-01

    Glycemic control declines during adolescence, as youth with diabetes struggle with pubertal changes and a changing social world. The present study tests whether body image mediates longitudinal links between family climate and changes in adolescent glycemic control. Mediation was hypothesized for nondating adolescents but not for dating adolescents, because the former are thought to remain more family oriented than the latter. Participants were German adolescents with Type 1 diabetes (51 girls, 58 boys; M = 15.84 years, SD = 1.44). Participants reported body image and family climate. Physicians assayed blood HbA1c levels (M = 8.22%, SD = 1.80%) to measure glycemic control. For nondating adolescents, body image mediated associations between family climate and longitudinal changes in glycemic control. Poorer family climate was associated with poorer body image, which predicted deteriorating glycemic control. For dating adolescents, family climate was unassociated with changes in glycemic control. Nondating adolescents may look to parents for feedback on body image, which affects how they manage the challenges of diabetes. Parents and practitioners alike should be alert to the fact that family climate continues to be an important determinant of adolescent adjustment, particularly for those who have not moved into romantic relationships. We know that body image matters to adolescents, but for some youth, body image may be the difference between health and serious physical problems. (PsycINFO Database Record (c) 2015 APA, all rights reserved).

  11. Family history and renin-angiotensin system gene polymorphisms in Chinese patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Pan, Yan-Hong; Huang, Yan-Mei; Qiao, Yong-Chao; Ling, Wei; Geng, Li-Jun; Xiao, Jian-Long; Zhang, Xiao-Xi; Zhao, Hai-Lu

    2017-12-01

    A positive family history is recognized as an important risk factor for type 2 diabetes mellitus (T2DM), but the association of family history with rennin-angiotensin system (RAS) gene polymorphisms has not been reported yet, thus we aim to investigate it.Family history records, clinical and biochemical data were obtained from 1239 T2DM patients. Polymerase chain reaction (PCR) was performed for angiotensin-converting enzyme (ACE) genotyping and PCR-restricted fragment length polymorphism was used for angiotensinogen (AGT) genotyping.Patients with a negative family history had higher level of triglyceride and blood pressure, whereas those with a positive family history showed younger onset age and lower body mass index value (All P history (All P history and those with a negative family history had comparable genotype and allele distribution of ACE gene insertion/deletion polymorphisms and AGT gene M/T polymorphisms.A positive family history of diabetes was not associated with the RAS gene polymorphisms. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  12. Diabetes education for children with type 1 diabetes mellitus and their families.

    Science.gov (United States)

    Couch, Robert; Jetha, Mary; Dryden, Donna M; Hooten, Nicola; Liang, Yuanyuan; Durec, Tamara; Sumamo, Elizabeth; Spooner, Carol; Milne, Andrea; O'Gorman, Kate; Klassen, Terry P

    2008-04-01

    To determine the effectiveness of diabetes education on metabolic control, diabetes-related hospitalizations, complications, and knowledge, quality of life and other psychosocial outcomes for children with type 1 diabetes and their families. A systematic and comprehensive literature review was conducted in 21 electronic databases of medical and health education literature to identify randomized controlled trials (RCTs) and observational studies evaluating the effectiveness of diabetes education. Study selection, quality assessment, and data extraction were conducted independently by several investigators in duplicate. A descriptive analysis is presented. From 12,756 citations, 80 studies were identified and included in the review (53 RCTs or CCTs, 27 observational studies). The methodological quality of studies was generally low. Most studies (35/52) that examined the effect of educational interventions on HbA1c found no evidence of increased effectiveness of the interventions over the education provided as part of standard care. Successful interventions were heterogeneous and included cognitive behavioral therapy, family therapy, skills training and general diabetes education. Most studies reported a positive effect on health service utilization (i.e., reduced use), although less than half were statistically significant. There was no clear evidence that educational interventions had an effect on short-term complications. The effect of educational interventions on diabetes knowledge was unclear with 12/30 studies reporting a significant improvement. Interventions which had varying effects on knowledge scores included diabetes camp, general diabetes education, and cognitive behavioral therapy. In the area of self management/regimen adherence, 10/21 studies reported improving this outcome significantly. Successful interventions included general diabetes education and cognitive behavioral therapy. Educational interventions were successful in improving various

  13. A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients.

    Science.gov (United States)

    Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee

    2017-09-15

    The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were "type 2 diabetes," "self-management," "diabetes self-management education (DSME)," "family support," "social support," and "uncontrolled glycaemia." Joanna Briggs Institute (JBI) guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.

  14. The Impact of Gender, Family Type and Age on Undergraduate Parents' Perception of Causes of Sexual Abuse

    Science.gov (United States)

    Onoyase, Anna

    2016-01-01

    The purpose of this study was to investigate the Impact of Gender, Family type and Age on undergraduate parents' perception of causes of child Sexual Abuse. Three hypotheses were formulated and tested. There was a review of relevant literature. The population for the study were 2014 sandwich contact students of Delta State University, Abraka who…

  15. Implicit and Explicit Iterations with Meir-Keeler-Type Contraction for a Finite Family of Nonexpansive Semigroups in Banach Spaces

    Directory of Open Access Journals (Sweden)

    Jiancai Huang

    2012-01-01

    Full Text Available We introduce an implicit and explicit iterative schemes for a finite family of nonexpansive semigroups with the Meir-Keeler-type contraction in a Banach space. Then we prove the strong convergence for the implicit and explicit iterative schemes. Our results extend and improve some recent ones in literatures.

  16. Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil

    2016-01-01

    Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...

  17. The influence of expressed emotion, family dynamics, and symptom type on the social adjustment of schizophrenic young adults.

    Science.gov (United States)

    King, S; Dixon, M J

    1996-12-01

    The goal of this study was to test a path analytic model that reflects the hypothesis that family cohesion and family adaptability underlie family members' expressed emotion (critical comments and emotional overinvolvement), that these family variables underlie the preponderance of positive symptoms in a patient with schizophrenia 9 months after relatives are interviewed, and that all of these variables influence the patient's social adjustment at follow-up. The subjects were 69 patients who met the DSM-III-R criteria for schizophrenia and 108 of their relatives. Relatives were assessed with the Camberwell Family Interview and the Family Adaptability and Cohesion Evaluation Scales III. Patients were interviewed 9 months later with the Brief Psychiatric Rating Scale and the Social Adjustment Scale II. Significant amounts of variance were explained by the model for three of the five social adjustment components. Neither family cohesion nor adaptability was associated with either critical comments or emotional overinvolvement. Family cohesion was negatively associated and emotional overinvolvement was positively associated with a preponderance of positive symptoms. Greater family adaptability was associated with lower social adjustment scores, and greater emotional overinvolvement was associated with higher social adjustment. Cohesion had a significant positive indirect effect on social adjustment through its association with symptom type. Critics of expressed emotion will be pleased to see that one component of high expressed emotion (emotional overinvolvement) is actually associated with a better social outcome in patients. Proponents of the expressed emotion concept will be pleased to see the applicability of expressed emotion to other facets of schizophrenic outcome. The results highlight the importance of using the expressed emotion scales in their continuous rather than dichotomized state and of analyzing critical comments and emotional overinvolvement

  18. Bouncing forward: families living with a type I diabetic child | Brown ...

    African Journals Online (AJOL)

    ... Despite the multitude of challenges that families living with a child with diabetes face, they have been found to adapt to such an extent that diabetes is viewed as a manageable condition. This study was concerned with the factors that enable these families to adapt. The internationally acclaimed Resiliency Model of Stress, ...

  19. Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

    Directory of Open Access Journals (Sweden)

    Loredana Leo

    2011-06-01

    Full Text Available Familial hemiplegic migraine type 2 (FHM2 is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain. We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. Homozygous Atp1a2(R887/R887 mutants died just after birth, while heterozygous Atp1a2(+/R887 mice showed no apparent clinical phenotype. The mutant α2 Na,K-ATPase protein was barely detectable in the brain of homozygous mutants and strongly reduced in the brain of heterozygous mutants, likely as a consequence of endoplasmic reticulum retention and subsequent proteasomal degradation, as we demonstrate in transfected cells. In vivo analysis of cortical spreading depression (CSD, the phenomenon underlying migraine aura, revealed a decreased induction threshold and an increased velocity of propagation in the heterozygous FHM2 mouse. Since several lines of evidence involve a specific role of the glial α2 Na,K pump in active reuptake of glutamate from the synaptic cleft, we hypothesize that CSD facilitation in the FHM2 mouse model is sustained by inefficient glutamate clearance by astrocytes and consequent increased cortical excitatory neurotransmission. The demonstration that FHM2 and FHM1 mutations share the ability to facilitate induction and propagation of CSD in mouse models further support the role of CSD as a key migraine trigger.

  20. Limb-girdle muscular dystrophy type 2D: clinical and genetic analysis of a family

    Directory of Open Access Journals (Sweden)

    Li-yu OU

    2017-09-01

    Full Text Available Objective To study the characteristics and diagnosis of limb-girdle muscular dystrophy type 2D (LGMD2D. Methods The clinical characteristics, EMG, muscle MRI and muscle pathological studies of 2 female patients in a family with LGMD2D were analyzed. Genetic analysis was used in the diagnosis of this disease. The cases were reported along with related literatures review. Results The onset of the proband and her younger sister occurred at 3 years old with progressive proximal muscle weakness of four limbs as the main clinical manifestation. The serum creatine kinase (CK was significantly high (> 50 × 10 3 U/L. EMG showed myogenic damage. Muscle MRI indicated partial muscle atrophy, fatness or fiber edema. Muscle pathological examination of the proband's younger sister revealed skeletal muscle necrosis and focal regeneration, partial striated muscle disappearance, and the muscle fibers in different sizes. Sequencing of all 10 coding exons of the SGCA gene in 2 patients revealed the same mutation: a c.262delT (p.Phe88SerfsX123 frameshift mutation in exon 3 and a c.409G > A (p.Glu137Lys missense mutation in exon 5. Their mother was a carrier of SGCA gene c.409G > A (p.Glu137Lys mutation. c.409G > A (p.Glu137Lys is a mutation already found, and c.262delT (p.Phe88SerfsX123 is a novel mutation. The proband's father did not take the genetic test for some reason. Conclusions In case of a female with Duchenne muscular dystrophy (DMD.like symptom, if she has been excluded from the DMD gene carrier, pedigree analysis and genetic analysis involving limb . girdle muscular dystrophy (LGMD should be conducted to facilitate the diagnosis of the LGMD and its subtypes. DOI: 10.3969/j.issn.1672-6731.2017.08.010

  1. REMOCIÓN BIOLÓGICA DE MATERIA ORGÁNICA, NITRÓGENO Y FÓSFORO EN UN SISTEMA TIPO ANAEROBIO-ANÓXICO-AEROBIO BIOLOGICAL REMOVAL OF ORGANIC MATTER, NITROGEN AND PHOSPHORUS IN A SYSTEM TYPE ANAEROBIC- ANOXIC -AEROBIC

    Directory of Open Access Journals (Sweden)

    Maribel González

    2008-12-01

    Full Text Available Este trabajo muestra los resultados experimentales de una serie de procesos biológicos unitarios para la remoción conjunta de materia orgánica (MO, nitrógeno (N y fósforo (P, empleando un sustrato sintético similar al agua residual doméstica de concentración media. Se utilizó un sistema tipo A2O (anaerobio-anóxico-aerobio, que se desarrolló en dos etapas. La etapa preliminar duró 60 días y comprendió, además de la aclimatación del lodo biológico, el ensayo de espuma de poliuretano, como material de soporte en la etapa aerobia. La etapa secundaria duró 280 días más, en los que el sistema alcanzó una estabilidad, lográndose un aumento notable en las eficiencias promedio de remoción de 92,5 % en materia orgánica, 87,7 % en nitrógeno y 83,5 % en fósforo. Se realizó un seguimiento permanente a parámetros tales como el oxígeno disuelto (OD y el potencial de óxido reducción (ORP, que variaron de acuerdo con el proceso correspondiente a cada unidad de tratamiento, y el pH, que permaneció en valores superiores a 7,2 unidades, garantizando la viabilidad del proceso de nitrificacióndesnitrificación. Adicionalmente, se realizó un estudio hidráulico con trazadores para evaluar el efecto del material de soporte en el régimen hidráulico de la unidad aerobia.Experimental results from a series of biological unitary processes for the simultaneous removal of organic matter (OM, nitrogen (N and phosphorus (P are shown in this study. A synthetic substrate similar to a domestic wastewater of average concentration was used. The experimental development was made using an A2O system (anoxic-aerobic-anaerobic performed in two phases. The preliminary stage lasted 60 days and included, besides the acclimatization of the biological sludge, the examination of polyurethane foam as a support medium in the aerobic phase. In the secondary stage, the stability was rapidly reached; this phase lasted 280 more days; a significant increase of the

  2. Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement.

    LENUS (Irish Health Repository)

    McLaughlin, Patrick D

    2012-11-01

    OBJECTIVE: Familial partial lipodystrophy type 2 (Online Mendelian Inheritance in Man no. 151660) is a systemic disorder characterized by regional lipoatrophy and lipohypertrophy, severe insulin resistance, and early cardiovascular death. At initial presentation, whole-body MRI allows the radiologist to accurately characterize patients with familial partial lipodystrophy and helps differentiate familial partial lipodystrophy from many other subtypes of lipodystophy. We present the findings of serial quantitative MRI analysis in two patients with familial partial lipodystrophy type 2 and outline the objective imaging changes that occur during medical therapy with oral rosiglitazone. CONCLUSION: Cervical adipose volume and visceral adipose area increased by 105% and 60% in the two patients and hepatic fat fraction decreased by 55% during a 21-month period of medical therapy. These changes coincided with a decrease in biochemical indexes of insulin resistance. Whole body quantitative MRI may therefore help to demonstrate the subclinical changes in fat deposition that occur as a result of novel treatment of familial partial lipodystrophy and with continued research may play a role in guiding the choice, duration, and intensity of novel medical therapy.

  3. Evaluación de patógenos en clones de lulo (Solanum quitoense Lam.

    Directory of Open Access Journals (Sweden)

    Montes Rojas Consuelo

    2010-06-01

    Full Text Available

    family: Verdana; mso-fareast-font-family: 'Times New Roman'; mso-ansi-language: ES; mso-fareast-language: ES; mso-bidi-language: AR-SA; mso-bidi-font-family: 'Times New Roman';">En el noroccidente de Popayán, Colombia, se evaluó la presencia de plagas causadas por patógenos en 42 clones de lulo (Solanum quitoense Lam.. Los clones fueron plantados en bolsas plásticas, donde se desarrollaron por 3 semanas antes de ser trasplantados al campo. Se utilizó un diseño de bloques completos al azar con cuatro repeticiones, la parcela útil estuvo conformada por 6 plantas, las cuales se sembraron a 'tresbolillo' a 2.5 m entre surcos y 2 m entre plantas. Para determinar el efecto de las plagas en el cultivo, se calculó el porcentaje de incidencia y severidad del ataque. La incidencia se evaluó como porcentaje de plantas afectadas, y la severidad como porcentaje de tejido afectado por el patógeno. Las enfermedades más limitantes para los 42 clones fueron: gota (Phytophthora infestans que provocó una mortalidad de plantas superior a 40%; fusarium (Fusarium oxysporum que se presentó en 12 de los clones evaluados; antracnosis (Colletotrichum sp. que afectó 21 clones, los cuales se clasificaron entre tolerantes y medianamente tolerantes; y mancha clorótica (Cladosporium sp. que afectó 21 clones, clasificados como susceptibles. Los clones PL19, PL24, PL11, PL35 fueron medianamente tolerantes. Se seleccionaron por supervivencia los clones: JY E1 (52.2%, PH E 1 (45.8%, VM E2 (45.8%; por supervivencia y por tolerancia a Fusarium oxysporum los clones PL35, PL11, PL24, PL8, PL19, 120052, 120043, ORE1, AGE1. Los clones SER 7, SER 15, SER 9, SEC 31, SEC 27 presentaron alta mortalidad pero se seleccionaron por ser medianamente tolerantes a gota, tolerantes a antracnosis y medianamente resistentes a nematodos, con buen vigor y producción.

  4. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

    Science.gov (United States)

    Hazan, Filiz; Ozturk, A Taylan; Adibelli, Hamit; Unal, Nurettin; Tukun, Ajlan

    2013-01-01

    Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.

  5. Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes

    DEFF Research Database (Denmark)

    Eliraqi, G M; Vistisen, D; Lauritzen, T

    2015-01-01

    Aim To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Methods Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients ...... the adverse effects of family history of diabetes on glycaemic control. The effect of this improvement on long-term diabetic complications warrants further investigation....... with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood...... pressure, lipids and HbA1c) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age...

  6. HLA non-class II genes may confer type I diabetes susceptibility in a Mapuche (Amerindian) affected family.

    Science.gov (United States)

    Pérez-Bravo, Francisco; Martinez-Laso, Jorge; Martin-Villa, Jose M; Moscoso, Juan; Moreno, Almudena; Serrano-Vela, Juan I; Zamora, Jorge; Asenjo, Silvia; Gleisner, Andrea; Arnaiz-Villena, Antonio

    2006-01-01

    A rare case of type I diabetes is studied in an Amerindian (Mapuche) family from Chile, analyzing glutamic acid decarboxylase, islet-cell autoantibodies and human leukocyte antigen (HLA) genes. The affected sib is the only one that has one specific HLA haplotype combination that differs from the other sibs only in the HLA class I genes. It is concluded that HLA diabetes susceptibility factors may be placed outside the class II region or even that susceptibility factors do not exist in the HLA region in this Amerindian family.

  7. Accessing integrated genomic data using GenoBase: A tutorial, Part 1

    Energy Technology Data Exchange (ETDEWEB)

    Overbeek, R.; Price, M.

    1993-01-01

    GenoBase integrates genomic information from many existing databases, offering convenient access to the curated data. This document is the first part of a two-part tutorial on how to use GenoBase for accessing integrated genomic data.

  8. Needs and Concerns of Family Caregivers of American Indians, African Americans, and Caucasians With Type 2 Diabetes.

    Science.gov (United States)

    Scarton, Lisa J; Bakas, Tamilyn; Poe, G Doug; Hull, Margie A; Ongwela, Loice A; Miller, Wendy R

    2016-04-01

    Although type 2 diabetes is a chronic illness affecting the entire family, scant literature exists in this area. This study's purpose was to identify needs of family caregivers of persons with type 2 diabetes across cultures. Using a semi-structured interview guide with open-ended questions, a convenience sample of 33 family caregivers of American Indians (n = 14), African Americans (n = 11), and Caucasians (n = 8) with type 2 diabetes were interviewed by telephone. Qualitative content analysis was conducted based on five pre-determined categories derived from an existing conceptual model. Results were similar across groups and provided support for the conceptual model with themes emerging within the five pre-determined categories: (a) information about type 2 diabetes, (b) managing emotions and behaviors, (c) physical care, (d) instrumental care, and (e) personal responses to caregiving. No additional themes emerged. Although small and exploratory, findings provide information that may be useful to the future development of culturally based interventions. © The Author(s) 2014.

  9. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

    2014-06-01

    Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  10. Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Trinh Hermanns-Lê

    2012-01-01

    Full Text Available The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH and the benign joint hypermobility syndrome (BJHS is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

  11. Health information sources for different types of information used by Chinese patients with cancer and their family caregivers.

    Science.gov (United States)

    Xie, Bo; Su, Zhaohui; Liu, Yihao; Wang, Mo; Zhang, Ming

    2017-08-01

    Little is known about the information sources of Chinese patients with cancer and their family caregivers, yet this knowledge is critical for providing patient-centred care. To assess and compare the information sources used by Chinese patients with cancer and their family caregivers. The validated Health Information Wants Questionnaire (HIWQ) was translated and administered in March 2014. The oncology department of a general hospital in south-west China. A convenience sample of 198 individuals, including 79 patients with cancer (mean age=55.24, SD=13.80) and 119 family caregivers (mean age=46.83, SD=14.61). Ratings on the HIWQ items assessing information sources for different types of information. The interaction between information source and group was significant (F 3,576 =6.32, Pinformation than patients from the Internet. Caregivers and patients did not differ in the amount of information they obtained from doctors/nurses, interpersonal contacts or mass media. The interaction between information type and information source was significant (F 18,3456 =6.38, Pinformation of all types from doctors/nurses than from the other three sources and obtained more information from interpersonal contacts than from mass media or the Internet. The information sources of Chinese patients with cancer and their family caregivers were similar, with an important difference that caregivers obtained more online information than patients. These findings have important implications for patient care and education in China where the family typically plays a major role in the care and decision making. © 2016 The Authors. Health Expectations Published by John Wiley & Sons Ltd.

  12. New views for sustainable production in family agriculture: Assessment of American lettuce cultivated with different types of organic fertilizers

    Directory of Open Access Journals (Sweden)

    Renan Borro Celestrino

    2017-07-01

    Full Text Available The general objective of this work was to evaluate the response of the American Lettuce to its development, using different types of organic fertilizers. Specifically, the objective was to outline the potential market for this type of food with agroecological production, with emphasis on small producers of family agriculture and to seek alternatives for legal marketing of organic products through family farming, based on Law 10.831/2003. Data collection on lettuce response to fertilization was completely randomized, with five treatments and four repetitions. It is a descriptive, exploratory research. Through a bibliographical survey, it was concluded that the insertion in the system of agroecological-organic production is opportune to establish competitiveness in family farming, in the primary productive sector of the production chain of olericulture, where the American Lettuce is among the main cultivated varieties. It was observed that the fertilization with manure of hardened chicken showed a higher development of lettuce in relation to other treatments. The consumer market confirms a demand for healthy food with the focus on vegetables. For legal marketing, organic food needs to get a special seal. Brazilian legislation establishes three guarantee instruments: third-party certification, participatory guarantee systems and social control for direct sale without certification. This last recommended for family farmers.

  13. Randomized trial of a diabetes self-management education and family teamwork intervention in adolescents with Type1 diabetes

    DEFF Research Database (Denmark)

    Murphy, H. R.; Wadham, C.; Hassler-Hurst, J.

    2012-01-01

    Aims To evaluate the effectiveness of a family-centred group education programme, in adolescents with Type1 diabetes. Methods Three hundred and five adolescents with Type1 diabetes; age 13.1±1.9years, diabetes duration 5.6±3.3years, BMI 20.9±3.7kg/m 2, HbA 1c 78±6mmol/mol (9.3±1.9%) were randomly...... allocated to the Families and Adolescents Communication and Teamwork Study (FACTS) diabetes education programme; (six 90-min monthly sessions attended by parents and adolescents incorporating skills training and family teamwork) or conventional clinical care. Primary outcome was HbA 1c at 18months (12months...... post-intervention). Secondary outcomes were HbA 1c at 9months, psychosocial outcomes, adolescent quality of life, well-being, family responsibility and insulin dose adjustment behaviours at 12months (6months post-intervention) and episodes of severe hypoglycaemia and diabetic ketoacidois during the 12...

  14. The Development of Children Placed into Different Types of Russian Families Following an Institutional Intervention

    Science.gov (United States)

    McCall, Robert B.; Muhamedrahimov, Rifkat J.; Groark, Christina J.; Palmov, Oleg I.; Nikiforova, Natalia V.; Salaway, Jennifer L.; Julian, Megan M.

    2016-01-01

    This study examined whether interventions in Russian Baby Homes promoting warm, sensitive, and responsive caregiver-child interactions and relationships would be associated with advantages in those children’s behavior years after they transitioned to family care. Children (N = 135) who had resided for at least 3 months (M = 13.8 months) in one of three intervention institutions were subsequently placed in Russian families (relatives or non-relatives) for at least 1 year (M = 33.5 months). When children were 1.5–10.8 years of age, parents provided ratings of attachment, indiscriminate friendliness, executive functioning, social-emotional development, and behavior problems. Despite very substantial differences in the developmental status of children at departure from the three institutions, there were fewer than expected significant differences between children from the three institutions at follow-up or as a function of being placed with relatives or non-relatives. Specifically, children reared in the most improved institution displayed less indiscriminate friendliness, were less aggressive/defiant, and had less externalizing behavior. Children from all three institutions who were placed into families at older ages tended to be rated more poorly on some measures. These results suggest that previously institutionalized children adjust well to family life, but improved institutional caregiving can have some persistent benefits over several years in children transitioned to families. PMID:28042513

  15. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

    Science.gov (United States)

    Lu, Qian; Yuan, Lamei; Xu, Hongbo; Huang, Xiangjun; Yang, Zhijian; Yi, Junhui; Ni, Bin; Chen, Yong; Deng, Hao

    2017-03-01

    Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

  16. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

    Science.gov (United States)

    Nicita, Francesco; Torrente, Isabella; Spalice, Alberto; Bottillo, Irene; Papetti, Laura; Pinna, Valentina; Ursitti, Fabiana; Ruggieri, Martino

    2014-02-01

    Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations. We describe a patient who fulfilled the diagnostic criteria for spinal neurofibromatosis and belonged to a family in which other affected members exhibited classical NF1 stigmata. A novel missense (c.7109 T>A; p.Val2370Asp) mutation in exon 39 of the NF1 gene was present in the affected family members. The family displayed extreme phenotypic variability in the spectrum of NF1. To our knowledge, this is the first patient with spinal neurofibromatosis in the context of classical NF1 with an NF1 gene mutation. The term FSNF is inaccurate as this condition simply reflects the typical autosomal dominant pattern of NF1 inheritance with phenotypoc variability and does not encompass patients with sporadic disease or those in the context of a classical NF1 phenotype as reported in the present family. The term could be replaced by "spinal neurofibromatosis". Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Supportive and non-supportive interactions in families with a type 2 diabetes patient

    DEFF Research Database (Denmark)

    Bennich, Birgitte B; Røder, Michael E; Overgaard, Dorthe

    2017-01-01

    and non-supportive interactions should be understood and addressed as the family members are interdependent and affected by each other. Future research assessing the impact of professional support and the family function will have the potential to improve the daily life and well-being of patients...... and quantitative studies that examined the intra-family perspective on supportive and non-supportive interactions. We searched the literature from 2000 to 2016 and the search strategy comprised the following databases: Cochrane, PubMed, CINAHL, Web of Science, PsycINFO and Psyc-ARTICLES as well as hand searching...... of reference lists. Quality assessment, data extraction and analysis were undertaken on all included studies. RESULTS: We identified five eligible research papers. Employing content analysis three categories describing interactions were refined: Impact of practical action, impact of emotional involvement...

  18. The spatiotemporal expression pattern of the bone morphogenetic protein family in rat ovary cell types during the estrous cycle

    OpenAIRE

    Erickson, Gregory F; Shimasaki, Shunichi

    2003-01-01

    Abstract In the mammalian ovary, great interest in the expression and function of the bone morphogenetic protein (BMP) family has been recently generated from evidence of their critical role in determining folliculogenesis and female fertility. Despite extensive work, there is a need to understand the cellular sites of expression of these important regulatory molecules, and how their gene expression changes within the basic ovary cell types through the cycle. Here we have performed a detailed...

  19. Moisture supply in Danish single-family houses – the influence of occupant behaviour and type of room

    DEFF Research Database (Denmark)

    Møller, Eva B.; Hansen, Ernst Jan de Place

    2017-01-01

    . The study focuses on the dependency of number and age of occupants, occupants’ time spent in the house, square meters living space, ventilation habits and type of room. Moisture supply depends on the type of room; bathroom, basement and living room have the highest values. None of the other parameters seems......According to ISO 13788, the internal moisture supply in dwellings can be described by humidity classes defined by outdoor temperature, occupancy and ventilation. Hygrothermal measurements in indoor air in 500 Danish single-family houses were made to investigate if this corresponds with reality...

  20. Alimentos funcionales, alfalfa y fitoestrógenos

    Directory of Open Access Journals (Sweden)

    Alejandro De Jesús

    2016-05-01

    Full Text Available El desarrollo de alimentos funcionales en los últimos años ha ido en aumento debido principalmente, al interés de la población por alimentos que no solo cumplan con la función nutricional sino también por que tengan un efecto benéfico en salud reduciendo así el riesgo a padecer diversas enfermedades. La alfalfa ha sido generalmente un alimento destinado para la alimentación del ganado, sin embargo, en diversas investigaciones alrededor del mundo se ha reportado que contiene compuestos bioactivos –fitoquímicos– y proteínas con efecto estrogénico, antimicrobiano y antioxidante, así como también protector contra enfermedades cardiovasculares, cáncer y diabetes, entre otras, clasificándola potencialmente como un alimento funcional. El presente documento tiene como objetivo dar un bosquejo general informativo a través de la búsqueda y revisión bibliográfica acerca de los alimentos funcionales y en especial de la alfalfa y constituyentes fitoquímicos (fitoestrógenos que la ubican dentro de este grupo de alimentos; así como los hallazgos que se han reportado como efectos adversos en animales experimentales específicamente en el aparato reproductivo debido al consumo de este tipo de fitocompuestos. Esta dicotomía entre los efectos adversos y benéficos no es más que la señalización de que aún falta mucha más información y estudios que realizar respecto al resultado que pueden tener los fitoestrógenos en el desarrollo y función reproductiva de animales, el agonismo y antagonismo de su efecto así como la concordancia en el riesgo-beneficio de su consumo.

  1. Desarrollo endógeno y globalización

    Directory of Open Access Journals (Sweden)

    Antonio Vázquez-Barquero

    2000-12-01

    Full Text Available El desarrollo endógeno es una interpretación que permite explicar la mecánica de la acumulación de capital en un entorno de fuerte competencia como el que caracteriza a la globalización. El artículo argumenta que la difusión del conocimiento, la organización flexible de la producción, las economías de urbanización y la densidad del tejido institucional son los procesos que determinan el aumento de la productividad y que gracias al efecto Hanoi es posible generar la sinergia necesaria entre estos procesos, lo que facilita la aparición de rendimientos crecientes. El desarrollo endógeno es una interpretación para la acción, y la política de desarrollo local incide sobre estos procesos, lo que permite a las ciudades y regiones responder a los desafíos de la globalizaciónEndogenous development is a notion that explains the mechanics of capital accumulation under the conditions of increasing competition, such as those that characterize the globalization process. The paper argues that the productivity determinants are the difussion of innovation, the flexible organization of production, the agglomeration economies and institutional thickness. The Hanoi effect would propel the necessary sinergy between these processes and determine the rise of increasing returns. Endogenous development is an approach for action and local development policiy tools focus on these processes and help the cities and regions answer the challenges of globalization.

  2. The collection of type specimens of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain

    Directory of Open Access Journals (Sweden)

    Viñolas, A.

    2014-05-01

    Full Text Available The type collection of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain, has been organised, revised and documented. It contains 430 type specimens belonging to 155 different taxa. Of note are the large number of hypogean species, the species of Cicindelidae from Asenci Codina’s collection, and the species of Harpalinae extracted from Jacques Nègre’s collection. In this paper we provide all the available information related to these type specimens. We therefore provide the following information for each taxon, species or subspecies: the original and current taxonomic status, original citation of type materials, exact transcription of original labels, and preservation condition of specimens. Moreover, the differences between original descriptions and labels are discussed. When a taxonomic change has occurred, the references that examine those changes are included at the end of the taxa description.

  3. Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis.

    Science.gov (United States)

    Madson, Justin G

    2012-05-15

    A café-au-lait macule (CALM) is an evenly pigmented macule or patch of variable size. Solitary CALMs are common birthmarks in up to 2.5 percent of normal neonates and their incidence rises to up to 25 percent in preschool-aged children. Two or more CALMs occur much less frequently. Multiple lesions may warrant investigation to identify an underlying disease including neurofibromatosis types 1 (NF1), neurofibromatosis type 2, McCune-Albright syndrome, and neurofibromatosis type 1-like syndrome. Considered a hallmark and diagnostic criteria for NF1 is the presence of 6 or more CALMs greater than 0.5 cm in prepubertal individuals. Rare reports describe families which demonstrate the phenomenon of multiple CALMs without other stigmata of NF1 or evidence of other systemic disease. Herein is a description of the condition and justification for this entity to be named Neurofibromatosis type 6.

  4. Three novel KCNA1 mutations in episodic ataxia type I families

    NARCIS (Netherlands)

    Scheffer, H; Brunt, ERP; Mol, GJJ; van der Vlies, P; Stulp, RP; Verlind, E; Mantel, G; Averyanov, YN; Hofstra, RMW; Buys, CHCM

    Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families

  5. Types of cancers diagnosed and the preference of families of adult ...

    African Journals Online (AJOL)

    Background: Cancer has become one of the top causes of death in developing nations killing more people than the common infectious diseases do. For several reasons, disclosing cancer diagnosis to the patient is a challenging job for physicians and family members. Materials and methods: A cross-sectional study was ...

  6. Genomewide analysis of MATE-type gene family in maize reveals ...

    Indian Academy of Sciences (India)

    Multidrug and toxic compound extrusion (MATE) proteins are a group of secondary active transporters, which widely exist in all living organisms and play important role in the detoxication of endogenous secondary metabolites and exogenous agents. However, to date, no systematic and comprehensive study of this family is ...

  7. Type 2 Gaucher\\'s disease in a Malian family | Traoré | African ...

    African Journals Online (AJOL)

    Gaucher's disease is a recessive autosomal disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C14 techniques have ...

  8. Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa

    Czech Academy of Sciences Publication Activity Database

    Fábera, Petr; Krijtová, H.; Tomášek, M.; Krýsl, D.; Zámečník, J.; Mohapl, M.; Jiruška, Přemysl; Marusič, P.

    2015-01-01

    Roč. 31, Sep 2015 (2015), s. 120-123 ISSN 1059-1311 R&D Projects: GA MZd(CZ) NT14489 Institutional support: RVO:67985823 Keywords : familial temporal lobe epilepsy * focal cortical dysplasia * epilepsy surgery * genetics of epilepsy Subject RIV: FH - Neurology Impact factor: 2.109, year: 2015

  9. Family type, domestic violence and under-five mortality in Nigeria.

    African Journals Online (AJOL)

    Abstract. Background: Nigeria still showcases unacceptably high under-five mortality despite all efforts to reduce the menace. Investigat- ing the significant predictors of this occurrence is paramount. Objective: To examine the interplay between family setting, domestic violence and under-five death in Nigeria. Methods: ...

  10. Global analysis of ankyrin repeat domain C3HC4-type RING finger gene family in plants.

    Directory of Open Access Journals (Sweden)

    Xiaowei Yuan

    Full Text Available Ankyrin repeat (ANK C3HC4-type RING finger (RF genes comprise a large family in plants and play important roles in various physiological processes of plant life. In this study, we identified 187 ANK C3HC4-type RF proteins from 29 species with complete genomes and named the ANK C3HC4-type RF proteins the XB3-like proteins because they are structurally related to the rice (Oryza sativa XB3. A phylogenetic relationship analysis suggested that the XB3-like genes originated from ferns, and the encoded proteins fell into 3 major groups. Among these groups, we found that the spacing between the metal ligand position 6 and 7, and the conserved residues, which was in addition to the metal ligand amino acids, in the C3HC4-type RF were different. Using a wide range of protein structural analyses, protein models were established, and all XB3-like proteins were found to contain two to seven ANKs and a C3HC4-type RF. The microarray data for the XB3-like genes of Arabidopsis, Oryza sative, Zea mays and Glycine max revealed that the expression of XB3-like genes was in different tissues and during different life stages. The preferential expression of XB3-like genes in specified tissues and the response to phytohormone and abiotic stress treatments of Arabidopsis and Zea mays not only confirmed the microarray analysis data but also demonstrated that the XB3-like proteins play roles in plant growth and development as well as in stress responses. Our data provide a very useful reference for the identification and functional analysis of members of this gene family and also provide a new method for the genome-wide analysis of gene families.

  11. Application of variable number of tandem repeats typing to describe familial outbreaks of brucellosis in Argentina.

    Science.gov (United States)

    Lucero, Nidia E; Tenenbaum, Marina; Jacob, Nestor R; Escobar, Gabriela I; Groussaud, Pauline; Whatmore, Adrian M

    2010-06-01

    Consumption of inadequately pasteurized dairy products is the most common means of transmission of brucellosis. This report describes two foodborne outbreaks that occurred in families infected after consumption of fresh home-made cheese bought in different Argentine provinces. High resolution variable number of tandem repeats (VNTR)-based analysis revealed two well-defined groups comprising essentially identical profiles and corresponding to the two different outbreaks. Similar clinical findings in members of the same family could indicate that the differential virulence of different bacterial clones, as indicated by VNTR data, could have influenced the course of the disease. We observed the importance of adequate treatment in early stages of the disease; combination therapy and extended treatment for 6 weeks or longer yielded significantly better results. The risk of the foodborne transmission of this zoonotic disease and disease prevention should be considered.

  12. The Use of GenoFibroTest Results in Routine Clinical Practice

    Directory of Open Access Journals (Sweden)

    I.A Anastasiy

    2015-04-01

    Full Text Available The value of GenoFibroTest results for predicting the possibility of achieving sustained virological response in patients with chronic hepatitis C genotype 1 is presented in this article. The results of GenoFibroTest must be taken into account to make a decision about antiviral therapy. Patient’s awareness about the activity and the stage of the disease increases the adherence to treatment. The results of GenoFibroTest enable to modify treatment duration depending on achievement of rapid virological response.

  13. Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

    Directory of Open Access Journals (Sweden)

    Mohammed Saadah

    2014-01-01

    Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

  14. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  15. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

    Science.gov (United States)

    Peng, Hao; Zhang, Yuhui; Long, Zhigao; Zhao, Ding; Guo, Zhenxin; Xue, Jinjie; Xie, Zhiguo; Xiong, Zhimin; Xu, Xiaojuan; Su, Wei; Wang, Bing; Xia, Kun; Hu, Zhengmao

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  16. Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.

    Science.gov (United States)

    Ospina, Naykky Singh; Maraka, Spyridoula; Donegan, Diane; Morris, John C

    2017-10-01

    We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other RET mutations.

  17. Telopéptido carboxilo terminal del colágeno tipo I (b-CTX sérico y compromiso óseo en la insuficiencia renal crónica Serum b-Type I collagen carboxyterminal telopeptide (b-CTXs and bone involvement in chronic renal failure

    Directory of Open Access Journals (Sweden)

    Beatriz Oliveri

    2005-08-01

    Full Text Available La osteodistrofia renal (ODR se caracteriza por alteraciones óseas. Se evaluaron métodos bioquímicos alternativos a la biopsia ósea en pacientes renales para determinar cambios rápidos del remodelamiento óseo en 43 pacientes predialíticos (PD y 49 hemodializados (HD. Los PD presentaron fosfatemia, fosfatasa alcalina ósea (FAO, hormona paratiroidea intacta (PTHi y b-telopéptido carboxilo terminal del colágeno tipo I (bCTXs mayores y clearence de creatinina (Ccr menores (p40 ml/min. En PD, bCTXs (pAn increase in parathyroid hormone (PTH levels in chronic renal failure (CRF induces bone abnormalities known as renal osteodystrophy (ROD. The aim of the present study was to evaluate alternative biochemical methods to bone biopsy, to evaluate changes in bone remodeling in renal patients. Intact PTH (iPTH and bone markers were measured in 43 predialysis (PD, 49 hemodialysis patients (HD and 185 controls. bCTXs, bone alkaline phosphatase (bAL, iPTH were higher and creatinine clearance (Ccr was lower in PD and HD compared with controls (p40 ml/min. bCTXs (p<0.05 in PD and bCTXs and bAL in HD patients were higher than controls, even when iPTH was within normal range (<65 pg/ml. Patients with severe secondary hyperparathyroidism showed higher bone markers than patients with normal or moderately increased iPTH (p<0.001. These results suggest that even when there is no increase in iPTH, bone remodeling increases (possibly due to other factors exhibiting higher bone resorption, and bCTXs would seem to be an adequate non-invasive tool to assess early bone changes in CRF and prevent future fractures. Bone marker measurements in ROD would be useful to identify patients who may require bone biopsy. However, further studies comparing both methods must be performed before replacing bone biopsy with serum b-CTX.

  18. Tissue-type plasminogen activator-binding RNA aptamers inhibiting low-density lipoprotein receptor family-mediated internalisation.

    Science.gov (United States)

    Bjerregaard, Nils; Bøtkjær, Kenneth A; Helsen, Nicky; Andreasen, Peter A; Dupont, Daniel M

    2015-07-01

    Recombinant tissue-type plasminogen activator (tPA, trade name Alteplase), currently the only drug approved by the US Food and Drug Administration and the European Medicines Agency for the treatment of cerebral ischaemic stroke, has been implicated in a number of adverse effects reportedly mediated by interactions with the low-density lipoprotein (LDL) family receptors, including neuronal cell death and an increased risk of cerebral haemorrhage. The tissue-type plasminogen activator is the principal initiator of thrombolysis in human physiology, an effect that is mediated directly via localised activation of the plasmin zymogen plasminogen at the surface of fibrin clots in the vascular lumen. Here, we sought to identify a ligand to tPA capable of inhibiting the relevant LDL family receptors without interfering with the fibrinolytic activity of tPA. Systematic evolution of ligands by exponential enrichment (SELEX) was employed to isolate tPA-binding RNA aptamers, which were characterised in biochemical assays of tPA association to low density lipoprotein receptor-related protein-1 (LRP-1, an LDL receptor family member); tPA-mediated in vitro and ex vivo clot lysis; and tPA-mediated plasminogen activation in the absence and presence of a stimulating soluble fibrin fragment. Two aptamers, K18 and K32, had minimal effects on clot lysis, but were able to efficiently inhibit tPA-LRP-1 association and LDL receptor family-mediated endocytosis in human vascular endothelial cells and astrocytes. These observations suggest that coadministration alongside tPA may be a viable strategy to improve the safety of thrombolytic treatment of cerebral ischaemic stroke by restricting tPA activity to the vascular lumen.

  19. Kernel based machine learning algorithm for the efficient prediction of type III polyketide synthase family of proteins

    Directory of Open Access Journals (Sweden)

    Mallika V

    2010-03-01

    Full Text Available Type III Polyketide synthases (PKS are family of proteins considered to have significant role in the biosynthesis of various polyketides in plants, fungi and bacteria. As these proteins show positive effects to human health, more researches are going on regarding this particular protein. Developing a tool to identify the probability of sequence, being a type III polyketide synthase will minimize the time consumption and manpower efforts. In this approach, we have designed and implemented PKSIIIpred, a high performance prediction server for type III PKS where the classifier is Support Vector Machine (SVM. Based on the limited training dataset, the tool efficiently predicts the type III PKS superfamily of proteins with high sensitivity and specificity. PKSIIIpred is available at http://type3pks.in/prediction/. We expect that this tool may serve as a useful resource for type III PKS researchers. Currently work is being progressed for further betterment of prediction accuracy by including more sequence features in the training dataset.

  20. Multiple endocrine neoplasia type 2A in a black South African family

    African Journals Online (AJOL)

    1. $obol H. Narod SA, Nakamura Y. et al. Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis. N Engl J Med 1989: 321: 996-1001. 2. Mulligan LM, Eng C. He-aly CS, e-r al. Germ-line mutations of the RET proto- oncogene in multiple endocrine neoplasia type 2A Nature 1993; 363: 458-460_.

  1. Aspectos genéticos del procesamiento de antígenos intracelulares

    Directory of Open Access Journals (Sweden)

    Beatriz Martínez

    1993-03-01

    Full Text Available La activación de los linfocitos T (LT, un aspecto fundamental en la generación de la respuesta inmune (RI, se produce mediante el contacto de sus receptores antigénicos (TCR con un complejo formado por un péptido derivado del antígeno y una molécula del complejo mayor de Histocompatibilidad (MHC, HLA en el humano sobre la superficie de una célula presentadora de antígenos (APC. El origen del péptido puede ser exógenooextracelular, como sucede con la mayoría de los antígenos presentados por las moléculas MHC clase II, o endógeno (intracelular, como es el caso de las proteínas virales. sintetizadas por la célula y presentadas por las moléculas MHC Clase.

  2. El receptor de estrógenos alfa como mediador del efecto proliferativo de progestágenos en cáncer de mama

    Directory of Open Access Journals (Sweden)

    Sebastián Giulianelli

    2012-08-01

    Full Text Available En carcinomas mamarios murinos (C4-HD y en células de cáncer de mama humano (T47D observamos que el progestágeno sintético, acetato de medroxiprogesterona (MPA, induce la activación del receptor de estrógenos alfa (REa y su asociación nuclear con el receptor de progesterona (RP. En este trabajo postulamos que dicha interacción a nivel genómico sería fundamental para desarrollar respuestas proliferativas mediadas por progestágenos. Demostramos que el antiestrógeno fulvestrant (FUL, ICI182.780 indujo la regresión completa de tumores C4-HD creciendo con MPA. El progestágeno indujo la expresión temprana de CCND1 y MYC en células T47D y este efecto fue revertido al bloquear el REa. En células tratadas con MPA utilizamos ensayos de inmunoprecipitación de la cromatina (ChIP y corroboramos la colocalización nuclear de RP/REa en los mismos sitios de los promotores de CCND1 y MYC. El ICI no afectó la unión de RP a ambas secuencias regulatorias, pero sí inhibió la unión del REa. Confirmamos la interacción nuclear entre REa y RP en muestras de cáncer de mama humano. Los resultados demuestran que la presencia del REa, interactuando con el RP, en promotores de CCND1 y MYC es fundamental para la transcripción génica y la proliferación celular inducida por el progestágeno.

  3. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

    OpenAIRE

    Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

    1986-01-01

    We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous ...

  4. “Factores exógenos y endógenos en la capacitación tecnológica”

    OpenAIRE

    Malevini, Graciela

    2005-01-01

    Plantea los divergentes direccionamientos que hay que afrontar al gestionar capacitación frente a las TIC’s en educación superior; desde posturas realistas, reflexionando sobre experiencias áulicas y vivencias de crecimiento recíproco para determinar su grado de factibilidad de acuerdo a la incidencia de los factores exógenos o endógenos. La inclusión de prácticas innovadoras configuradas por las TIC’s supone nuevos roles, habilidades y estrategias. Emerge, entonces, la controversia de fl...

  5. Evaluación del lenguaje interno ansiógeno y depresógeno en la experiencia de dolor crónico

    OpenAIRE

    Cano García, Francisco Javier; Rodríguez Franco, Luis

    2002-01-01

    En este trabajo adaptamos dos instrumentos de evaluación de lenguaje interno ansiógeno y depresógeno, el Cuestionario de Automanifestaciones Ansiosas (ASSQ), de Kendall y Hollon (1989), y el Cuestionario de Pensamientos Automáticos (ATQ), de Hollon y Kendall (1980), respectivamente, para su utilización con pacientes de dolor crónico. Para ello nos basamos en los resultados obtenidos en 205 casos analizados en centros de sanitarios de la provincia de Sevilla que comprendieron la práctica total...

  6. Regulación por andrógenos y estrógenos de la gliosis tras lesiones cerebrales en rata

    OpenAIRE

    Sampaio Barreto, George Emilio

    2009-01-01

    Los andrógenos y los estrógenos modulan la supervivencia neuronal, la diferenciación glial y la expresión génica en muchas áreas del sistema nervioso durante el desarrollo. Además, estas hormonas tienen efectos protectores frente al daño neuronal causado por diversas patologías neurodegenerativas, traumáticas y toxicas durante la vida adulta. Nuestra hipótesis es que al menos una parte de las acciones neuroprotectoras de la testosterona y el estradiol puede estar mediada por acciones so...

  7. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  8. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  9. Analytic solutions to a family of boundary-value problems for Ginsburg-Landau type equations

    Science.gov (United States)

    Vassilev, V. M.; Dantchev, D. M.; Djondjorov, P. A.

    2017-10-01

    We consider a two-parameter family of nonlinear ordinary differential equations describing the behavior of a critical thermodynamic system, e.g., a binary liquid mixture, of film geometry within the framework of the Ginzburg-Landau theory by means of the order-parameter. We focus on the case in which the confining surfaces are strongly adsorbing but prefer different components of the mixture, i.e., the order-parameter tends to infinity at one of the boundaries and to minus infinity at the other one. We assume that the boundaries of the system are positioned at a finite distance from each other and give analytic solutions to the corresponding boundary-value problems in terms of Weierstrass and Jacobi elliptic functions.

  10. Influence of Type 1 Diabetes Mellitus on Women's Nutritional Beliefs and Lifestyle Choices for Themselves and Their Families.

    Science.gov (United States)

    Nnedu, Cordelia Chinwe; Gayle, Lynette; Popoola, Sola

    2015-12-01

    The aim of this research was to examine the impact of type 1 diabetes on women's nutritional beliefs and their lifestyle choices both for themselves and for their families. The data sources used were the online databases of OVID, CINAHL, MEDLINE, PsyINFO, PsyARTICLE, ERIC, Health Source Nursing/Academic edition, and the Centers for Disease Control from January 2000 to 2012. The concentration of the search was to identify literature with the key words "nutrition," "lifestyle," or "women with type 1 diabetes." The researchers found 28 data-based research articles that examined women with type 1 diabetes. The articles were individually scrutinized for relevance and limited to English language articles. Data concerning the nutritional beliefs, lifestyle choices, andfamily dynamics among women with DM1 were extracted. The research articles consisted of 19 qualitative studies, 7 quantitative studies, and 2 theory-testing studies. The themefor the studies included, but was not limited to, birth size, eating disorders, complications of diabetes mellitus, theory testing, documentations of effectiveness, estimations of carbohydrates, weight, changes during pregnancy in women with type 1 diabetes mellitus, and their educational preferences. This integrative review described the effects of DM1 on women's nutritional belief and lifestyle choices. Results demonstrated the importance of education and follow-ups; however, future studies are needed to identify factors that contribute to noncompliance and waysfor patients to comprehend the seriousness of complications that can arise from type 1 diabetes mellitus.

  11. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

    Science.gov (United States)

    Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

    1986-10-01

    We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous globular domain (NC1) of type IV collagen from normal human GBM, while FNS identified only the 26,000-mol wt monomer. FNS reacted with EBM of 12 controls and nine unaffected male kindred members but not EBM of eight affected males. Five affected females exhibited interrupted reactivity of FNS with EBM. GPS showed variable reactivity with EBM and was not discriminating with respect to Alport-type FN. FNS did not stain renal basement members of five affected males. However, the EBM, tubular basement membrane, and Bowman's capsules of affected males contained antigens reactive with GPS. These immunochemical studies suggest that the FNS antigen is distinct from Goodpasture antigen(s). The expression of FNS antigen located on the NC1 domain of type IV collagen is altered in basement membranes of patients with Alport-type FN, and the distribution of this antigenic anomaly within kindreds suggests X-linked dominant transmission of a defective gene.

  12. Impact of Education on Disease Knowledge and Glycaemic Control Among Type 2 Diabetic Patients in Family Practice

    Directory of Open Access Journals (Sweden)

    Samira Herenda

    2007-08-01

    Full Text Available In patients with diabetes type 2, good knowledge about disease often doesn’t follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disease. Disease Knowledge Test of Michigan Diabetes Training and Research Center was used to evaluate knowledge about diabetes and glycaemic control was assessed by HbAic. Participants were tested at the beginning of survey, after 3 months of passive education and additional 3 months of intensive one. Basic test showed good knowledge of participants (score 8,3 out of 15, improved knowledge after passive education (score 9,23 and intensive one (11,19 (P<0,0001. Demographic characteristics of patients (age, sex, living area, level of education, duration of disease and type of treatment had no influence on disease knowledge and glycaemic control during education. Generally, patient education improved significantly glycaemic control by HbA1c reduction 0,45% (P=0,011 without significant differences between passive and intensive one. Education of patients improves both disease knowledge and glycaemic control among type 2 diabetic patients.

  13. Impact of education on disease knowledge and glycaemic control among type 2 diabetic patients in family practice.

    Science.gov (United States)

    Herenda, Samira; Tahirović, Husref; Poljaković, Dzemal

    2007-08-01

    In patients with diabetes type 2, good knowledge about disease often doesn't follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disease. Disease Knowledge Test of Michigan Diabetes Training and Research Center was used to evaluate knowledge about diabetes and glycaemic control was assessed by HbA1c. Participants were tested at the beginning of survey, after 3 months of passive education and additional 3 months of intensive one. Basic test showed good knowledge of participants (score 8,3 out of 15), improved knowledge after passive education (score 9,23) and intensive one (11,19) (Psex, living area, level of education, duration of disease and type of treatment) had no influence on disease knowledge and glycaemic control during education. Generally, patient education improved significantly glycaemic control by HbA1c reduction 0,45% (P=0,011) without significant differences between passive and intensive one. Education of patients improves both disease knowledge and glycaemic control among type 2 diabetic patients.

  14. Type 1 diabetes mellitus associated with autoimmune thyroid disease, celiac disease and familial Mediterranean fever: case report.

    Science.gov (United States)

    Baş, Firdevs; Kabataş-Eryilmaz, Sema; Günöz, Hülya; Darendeliler, Feyza; Küçükemre, Banu; Bundak, Rüveyde; Saka, Nurçin

    2009-01-01

    It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.

  15. Multi-time Lagrangian 1-forms for families of Bäcklund transformations. Relativistic Toda-type systems

    International Nuclear Information System (INIS)

    Boll, Raphael; Petrera, Matteo; Suris, Yuri B

    2015-01-01

    We establish the pluri-Lagrangian structure for families of Bäcklund transformations of relativistic Toda-type systems. The key idea is a novel embedding of these discrete-time (one-dimensional) systems into certain two-dimensional (2D) pluri-Lagrangian lattice systems. This embedding allows us to identify the corner equations (which are the main building blocks of the multi-time Euler–Lagrange equations) with local superposition formulae for Bäcklund transformations. These superposition formulae, in turn, are key ingredients necessary to understand and to prove commutativity of the multi-valued Bäcklund transformations. Furthermore, we discover a 2D generalization of the spectrality property known for families of Bäcklund transformations. This result produces a family of local conservations laws for 2D pluri-Lagrangian lattice systems, with densities being derivatives of the discrete 2-form with respect to the Bäcklund (spectral) parameter. Thus, a relation of the pluri-Lagrangian structure with more traditional integrability notions is established. (paper)

  16. Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia

    NARCIS (Netherlands)

    Bdier, Amnah Y.; Al-Ghamdi, Saleh; Verma, Prashant K.; Dagriri, Khalid; Alshehri, Bandar; Jiman, Omamah A.; Ahmed, Sherif E.; Wilde, Arthur A. M.; Bhuiyan, Zahurul A.; Al-Aama, Jumana Y.

    2017-01-01

    One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene. Bi-allelic mutations in the KCNQ1 gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and

  17. Models of Parenting: Implications for Adolescent Well-Being within Different Types of Family Contexts.

    Science.gov (United States)

    Shucksmith, J.; And Others

    1995-01-01

    Examines parenting models and parent-child relationships from early to middle adolescence. Focuses on implications for adolescent functioning, including school integration and psychological well being. Results identify four distinct types of parenting styles characterized by different degrees of acceptance and control of young people's behavior.…

  18. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    van den Berg, M. P.; Wilde, A. A.; Viersma, T. J. W.; Brouwer, J.; Haaksma, J.; van der Hout, A. H.; Stolte-Dijkstra, I.; Bezzina, C. R.; van Langen, I. M.; Beaufort-Krol, G. C.; Cornel, J. H.; Crijns, H. J.

    2001-01-01

    We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this family. The study

  19. Number and Severity of Type 2 Diabetes among Family Members Are Associated with Nutrition and Physical Activity Behaviors

    Directory of Open Access Journals (Sweden)

    Ann Oyare Amuta

    2017-07-01

    Full Text Available AimA binary measurement of type 2 diabetes (T2D has been found not to influence behaviors. We aimed to examine the influence of other measures of family history such as number of relatives, genetic closeness of relatives, and severity of T2D of family members on nutrition and physical activity behaviors among college students.MethodsStudents across four colleges in Texas were sampled. Multiple linear regression models, controlling for covariates, were used to model results. Cross-sectional data were used.ResultsMore number of relatives with T2D was associated with vegetable consumption (β = 0.131, p = 0.007 and exercise (β = 0.129, p = 0.037. Having relatives with severe T2D was associated with vegetable consumption (β = 0.157, p = 0.002 and exercise (β = 106, p = 0.027. Closer genetic relationship with someone with T2D was associated with increased vegetable consumption (β = 0.107, p = 0.023 and exercise (β = 0.096, p = 0.047.ConclusionIt is likely that the severe complications that may accompany the relatives T2D or having an immediate family member living with T2D may in fact motivate other family members without T2D to modify their attitudes, beliefs, and knowledge about T2D, thus encourage health-protective behaviors.

  20. Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation

    Energy Technology Data Exchange (ETDEWEB)

    Ketterling, R.P.; Vielhaber, E.; Bottema, C.D.K.; Schaid, D.J.; Sommer, S.S. (Mayo Clinic/Foundation, Rochester, MN (United States)); Cohen, M.P. (Vanderbilt Univ., Nashville, TN (United States)); Sexauer, C.L. (Children' s Hospital, Oklahoma City, OK (United States))

    1993-01-01

    Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, the authors report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by them, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males. 62 refs., 1 fig., 5 tabs.

  1. [HLA genetic markers and auto-antibody profile in a Mapuche family with a case affected of type 1 diabetes].

    Science.gov (United States)

    Asenjo, Sylvia; Gleisner, Andrea; Pérez, Francisco

    2004-01-01

    Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.

  2. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    International Nuclear Information System (INIS)

    Wang Haoyang; Hou Yanning; Cui Yingxia; Huang Yufeng; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun

    2009-01-01

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

  3. The spatiotemporal expression pattern of the bone morphogenetic protein family in rat ovary cell types during the estrous cycle

    Directory of Open Access Journals (Sweden)

    Shimasaki Shunichi

    2003-02-01

    Full Text Available Abstract In the mammalian ovary, great interest in the expression and function of the bone morphogenetic protein (BMP family has been recently generated from evidence of their critical role in determining folliculogenesis and female fertility. Despite extensive work, there is a need to understand the cellular sites of expression of these important regulatory molecules, and how their gene expression changes within the basic ovary cell types through the cycle. Here we have performed a detailed in situ hybridization analysis of the spatial and temporal expression patterns of the BMP ligands (BMP-2, -3, -3b, -4, -6, -7, -15, receptors (BMPR-IA, -IB, -II, and BMP antagonist, follistatin, in rat ovaries over the normal estrous cycle. We have found that: i all of the mRNAs are expressed in a cell-specific manner in the major classes of ovary cell types (oocyte, granulosa, theca interstitial, theca externa, corpora lutea, secondary interstitial, vascular and ovary surface epithelium; and ii most undergo dynamic changes during follicular and corpora luteal morphogenesis and histogenesis. The general principle to emerge from these studies is that the developmental programs of folliculogenesis (recruitment, selection, atresia, ovulation, and luteogenesis (luteinization, luteolysis are accompanied by rather dramatic spatial and temporal changes in the expression patterns of these BMP genes. These results lead us to hypothesize previously unanticipated roles for the BMP family in determining fundamental developmental events that ensure the proper timing and developmental events required for the generation of the estrous cycle.

  4. Detección de pepsinógeno mediante el uso de antisueros y anticuerpos monoclonales.

    Directory of Open Access Journals (Sweden)

    Oscar Orozco

    2000-02-01

    Full Text Available

    family: Arial">El pepsinógeno (PGA y PGC es una aspartato proteasa secretada por células principales gástricas que a pH ácido se convierte en pepsina. Los niveles séricos de dicha enzima se han postulado como indicadores del estado de la mucosa gástrica ya que dependiendo de la patología de base estos pueden encontrarse elevados o disminuidos. Así, en la gastritis superficial y úlcera duodenal los niveles de PGA se encuentran aumentados, mientras que en la gastritis atrófica y cáncer gástrico se encuentran disminuidos. Se planteó como objetivo de este trabajo producir anticuerpos policlonales y monoclonales anti-pepsinógeno con el fin de ser empleados en el diseño de sistemas de cuantificación de pepsinógeno sérico, ya que los sistemas de cuantificación comerciales son muy costosos y de difícil acceso. Para la producción de los anticuerpos se empleó pepsina A porcina como inmunógeno teniendo en cuenta que presenta una alta homología en la secuencia de aminoácidos (86% con la pepsina A humana y además tienen una estructura secundaria idéntica. Anticuerpos policlonales fueron obtenidos de conejos Nueva Zelanda inmunizados vía subcutánea con pepsina A porcina y los anticuerpos monoclonales a partir de células de bazo de los ratones BALB/c inmunizados con pepsina A vía intraperitoneal. Los anticuerpos tanto policlonales como monoclonales fueron purificados por precipitación con sulfato de amonio y posteriormente cromatografía de intercambio iónico a partir del suero o líquido ascítico respectivamente. Los anticuerpos purificados, tanto policlonales como monoclonales, son capaces de reconocer pepsina porcina y pepsinógeno humano presente en sonicados de biopsias gástricas en ensayos de ELISA y western blot. En ensayos de inmunohistoquímica realizados sobre cortes de biopsias gástricas los anticuerpos monoclonales detectan el pepsinógeno presente en el

  5. Antibacterial activity of different types of snake venom from the Viperidae family against Staphylococcus aureus

    Directory of Open Access Journals (Sweden)

    Isabela Nascimento Canhas

    2017-09-01

    Full Text Available Toxins and venoms produced by living organisms have exhibited a variety of biological activities against microorganisms. In this study, we tested seven snake venoms from the family Viperidae for antibacterial activity and the activities of reversal of antibiotic resistance and inhibition of biofilm formation against 22 clinical isolates of Staphylococcus aureus. Bothrops moojeni venom exhibited anti staphylococcal activity with the lowest mean value of minimum inhibitory concentration (MIC. Moreover, reversal of antibiotic resistance was observed for combinations of B. moojeni venom (½ x MIC and norfloxacin or ampicillin (both ½ x MIC for 86.4% and 50% of the isolates, respectively. B. moojeni venom alone at ½ MIC inhibited 90% of biofilm formation, whereas in combination with ciprofloxacin, both at ½ MIC, a reduction on the NorA efflux pump activity was observed. The detection of in vitro mutants colonies of S. aureus resistant to B. moojeni venom was low and they did not survive. A phospholipase A2 was purified from the venom of B. moojeni and displayed anti-staphylococcal activity when tested alone or in combination with ciprofloxacin. The results presented here will contribute to the search for new antimicrobial agents against resistant S. aureus.

  6. Researches on the influence exerted by beehive type on bee family hibernation

    Directory of Open Access Journals (Sweden)

    Silvia Patruica

    2017-05-01

    Full Text Available This work presents the results of hibernation of bee colonies maintained in multi-storied beehives endowed with anti-varroa ground, made of wood and polystyrene Dadant. The experiments were carried out Banat’s University of Agricultural Sciences and Veterinary Medicine „King Michael the Ist” from Timişoara, Romania, between the 1st of November 2016 and 1st of March 2017. The biological material was represented by 20 Apis mellifera carpatica bee colonies, divided in two experimental variants, 10 colonies/batch, with similar power and same-age queens.  During the experiment, we observed the bee amount at the start of hibernation; the bee amount at the end of hibernation; the evolution of feed intake and losses caused by mortality. At the end of the experiment, we determined a bigger bee amount in the polystyrene Dadant beehives, significantly lower losses caused by mortality from a statistical point of view (p<0.001 and lower feed intake with 12.04% compared with the bee families maintained in the wooden multi-storied beehives.

  7. Paleosuelos de sepiolita en el neógeno de la cuenca de Madrid

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    Medina, J. A.

    1989-12-01

    Full Text Available The mineralogical composition from sepiolite bearing clays allows us to stablish remarkable variations among this mineral: smectite, illite, detrital grains (quartz and feldspar and carbonates (calcite and dolomite according to bed thickness. Sepiolite formation is related to silicification processes which control textural features, crystallinity degree (sharpness and sepiolite aggregate size as a function of the SiO2/MgO ratio. Silicification is favoured by CaCO3 and an oscillating water table with dissolution-precipitation mechanisms which give rise to hydromorphic paleosoils in the shallower zones. In these paleosoils sepiolite develops mainly on saponite bearing green clays, with glomerulae and laminated textures. In deeper zones, sepiolite appears with massive textures (grid-type on clays, cementing when there is a high content of terrigenous minerals, both are diagenetic in origin.El análisis de la composición mineral de materiales arcillosos con sepiolita, pone de manifiesto variaciones significativas en el contenido de este mineral, con respecto a esmectitas e illitas, minerales terrígenos (cuarzo y feldespato y carbonatos (calcita y dolomita según la potencia de los materiales. La formación de sepiolita se relaciona con un proceso de silicificación, que controla el tipo de textura, el grado de cristalinidad y el tamaño de los agregados de sepiolita en función de la relación SiO22/MgO. La silicificación está favorecida por la presencia de CO3Ca, el carácter alternante de la tabla de agua, con mecanismos de disolución-precipitación, da lugar en las zonas más superficiales a suelos hidromórficos. En estos suelos la sepiolita se forma principalmente sobre lutitas verdosas ricas en saponita, con desarrollo de texturas glomerulares y laminares. En zonas más profundas se desarrollan texturas masivas de sepiolita, de tipo reticular sobre materiales arcillosos, y en forma de cémentos cuando predominan minerales terrígenos

  8. Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

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    Luciano de Souza Queiroz

    1974-03-01

    Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

  9. Splitting families and the Noetherian type of $\\beta\\omega-\\omega$

    OpenAIRE

    Milovich, David

    2007-01-01

    Extending some results of Malykhin, we prove several independence results about base properties of $\\beta\\omega-\\omega$ and its powers, especially the Noetherian type $Nt(\\beta\\omega-\\omega)$, the least $\\kappa$ for which $\\beta\\omega-\\omega$ has a base that is $\\kappa$-like with respect to containment. For example, $Nt(\\beta\\omega-\\omega)$ is never less than the splitting number, but can consistently be that $\\omega_1$, $2^\\omega$, $(2^\\omega)^+$, or strictly between $\\omega_1$ and $2^\\omega...

  10. Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.

    Science.gov (United States)

    Lu, Yili; Wang, Liyin; Li, Jun; Wu, Beibei; Wu, Huiping; Luo, Yue; Jin, Zi-Bing; Shan, Xiaoou

    2016-10-01

    Glycogen storage disease type‑Ia (GSD‑Ia) is a rare autosomal recessive disease caused by a mutation in the gene encoding glucose‑6‑phosphate‑α (G6PC). The present study reported the case of a 3‑month‑old female Chinese patient with GSD‑Ia born to consanguineous parents. The aim of the present study was to identify the precise mutation of the G6PC gene associated with this family and to describe the phenotypic characteristics of the patient. A comprehensive examination was performed on the patient, including physical examination, vein blood gas analysis, abdominal sonography and biochemical analyses. In addition, gene sequencing was performed on the coding region of the G6PC gene to identify the mutation. The patient was diagnosed with GSD‑Ia and a G6PC missense mutation of c.518T>C (p.L173P) located in a highly conserved area was identified. The mutation is in a non‑helical region of the protein, which previous studies have suggested should result in a lesser effect on G6PC enzymatic activity and milder phenotypic characteristics compared with mutations located in helical regions. However, the severity of the disease phenotype in the subject of the present study was inconsistent with that predicted from her genotype. The patient suffered from serious hypoglycemia, lactic acidosis, increased triglycerides, hepatic dysfunction, clear hepatomegaly and nephromegaly. The incidence of the p.L173P mutation may be relatively high in the Chinese population. Knowledge of the various phenotypic presentations of the p.L173P mutation may beneficial for future investigations.

  11. Molecular cloning and expression analysis of hyp-1 type PR-10 family genes in Hypericum perforatum

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    Katja eKarppinen

    2016-04-01

    Full Text Available Hypericum perforatum L. is an important medicinal plant for the treatment of depression. The plant contains bioactive hypericins that accumulate in dark glands present especially in reproductive parts of the plant. In this study, pathogenesis-related class 10 (PR-10 family genes were identified in H. perforatum, including three previously unidentified members with sequence homology to hyp-1, a phenolic coupling protein that has earlier been suggested to participate in hypericin biosynthesis and binding/transportation. The PR-10 genes showed constitutive but variable expression patterns in different H. perforatum tissues. They were all expressed at relatively high levels in leaves, variably in roots and low levels in stem and reproductive parts of the plant with no association with dark glands. The gene expression was up-regulated in leaves after salicylic acid, abscisic acid and wounding treatments but with variable levels. To study exact location of the gene expression, in situ hybridization of hyp-1 transcripts was performed and the accumulation of the Hyp-1 protein was examined in various tissues. The presence of Hyp-1 protein in H. perforatum tissues mostly paralleled with the mRNA levels. In situ RNA hybridization localized the hyp-1 transcripts predominantly in vascular tissues in root and stem, while in leaf the mRNA levels were high also in mesophyll cells in addition to vasculature. Our results indicate that the studied PR-10 genes are likely to contribute to the defence responses in H. perforatum. Furthermore, despite the location of the hyp-1 transcripts in vasculature, no support for the transportation of the Hyp-1 protein to dark glands was found in the current study. The present results together with earlier data question the role of the hyp-1 as a key gene responsible for the hypericin biosynthesis in dark glands of H. perforatum.

  12. Designation of type genus for the holothuroid family Cucumellidae (Echinodermata : Holothuroidea : Dendrochirotida) with re-examination of the holotype of Cucumella decaryi Cherbonnier.

    Science.gov (United States)

    Thandar, Ahmed; Arumugam, Preyan

    2014-02-04

    Thandar & Arumugam (2011), in their erection of the new dactylochirotid family Cucumellidae, inadvertently omitted to designate its type genus. This error is here rectified and Cucumella Heding (in Ludwig & Heding, 1935) is designated the type genus of the new family Cucumellidae to comply with the requirements of Article 61 of the International Code. Following Smirnov (2012), in his revised classification of the Holothuroidea, the new family is now classified in the order Dendrochirotida. In addition, the holotype of Cucumella decaryi Cherbonnier is re-examined to confirm its synonymy with Neostichopus grammatus (H.L. Clark).

  13. El nitrógeno en los sistemas ganaderos de leche

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    Jorge Elizondo Salazar

    2006-01-01

    Full Text Available El nitrógeno es un elemento muy importante para todo organismo. Se encuentra en: la atmósfera, el suelo y el agua. Se aplica en todo el mundo para producir alimentos. El nitrógeno para la agricultura incluye: el proveniente de fertilizantes inorgánicos, aquel fijado biológicamente, el proveniente de estiércoles de animales, el de residuos de cosechas y el que se mineraliza en el suelo. Hoy en día, los fertilizantes nitrogenados son la mayor fuente de nitrógeno para la producción agrícola y el nitrógeno presente en el estiércol animal se está utilizando ineficientemente. Además, el nitrógeno está siendo aplicado en cantidades mayores que las que el ecosistema puede tolerar, ocasionando problemas de olores y contaminación de las aguas, lo que ha provocado intoxicaciones tanto en personas como en animales y otra serie de efectos negativos en los ecosistemas tanto terrestres como acuáticos. El presente trabajo tiene como objetivo hacer un breve repaso sobre la importancia del nitrógeno en los organismos, conocer los efectos negativos que el exceso de nitrógeno puede ocasionar en el ambiente y reconocer alternativas viables y económicas que permitan disminuir la excreción de este elemento en los sistemas ganaderos de leche

  14. Influencia del acabado superficial en la permeación de hidrógeno del acero API 5L-X52

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    Réquiz, R.

    2004-02-01

    Full Text Available The influence of surface roughness on the corrosion and hydrogen permeation behaviour was evaluated on a type API 5L-X52 steel in deaerated 0.1 M Na2SO4 at pH=2. Potentiodynamic polarization curves were employed to determine the electrochemical behaviour of the steel, while the Devanathan-Stachurski technique was used to estimate the hydrogen permeation rate. Additionally, the surface roughness profiles were obtained in order to correlate the changes in the hydrogen permeation rate with different metal surface finishings. The obtained results clearly demonstrate that when the roughness parameters have larger values, the cathodic current of hydrogen evolution increases while the hydrogen entry rate decreases. This effect can be attributed to the microstructural defects induced at the steel surface, such as dislocations, which increase the catalytic activity of the atomic hydrogen favouring its recombination. Also, these defects could allow the atomic hydrogen to remain adsorbed on the steel surface. Both effects could hinder the hydrogen diffusion into the metal since the possibility for this atom of becoming absorbed has been reduced

    En el presente trabajo de investigación se evalúa la influencia del acabado superficial, tanto en la corrosión generalizada como en la permeación de hidrógeno del acero API 5L-X52 en solución de Na2SO4 0,1M, a pH=2. El comportamiento electroquímico del acero se estudió mediante las curvas de polarización potenciodinámicas, mientras que la susceptibilidad al daño por hidrógeno se evaluó mediante la técnica de permeación de Devanathan- Stachurski. Además, se determinaron los parámetros de rugosidad a las muestras de acero con diferentes acabados superficiales, para luego correlacionarlos con los cambios en las corrientes de permeación de hidrógeno. Los resultados obtenidos demuestran, claramente, que, cuando la rugosidad superficial del acero

  15. Phylogenomics and sequence-structure-function relationships in the GmrSD family of Type IV restriction enzymes.

    Science.gov (United States)

    Machnicka, Magdalena A; Kaminska, Katarzyna H; Dunin-Horkawicz, Stanislaw; Bujnicki, Janusz M

    2015-10-23

    GmrSD is a modification-dependent restriction endonuclease that specifically targets and cleaves glucosylated hydroxymethylcytosine (glc-HMC) modified DNA. It is encoded either as two separate single-domain GmrS and GmrD proteins or as a single protein carrying both domains. Previous studies suggested that GmrS acts as endonuclease and NTPase whereas GmrD binds DNA. In this work we applied homology detection, sequence conservation analysis, fold recognition and homology modeling methods to study sequence-structure-function relationships in the GmrSD restriction endonucleases family. We also analyzed the phylogeny and genomic context of the family members. Results of our comparative genomics study show that GmrS exhibits similarity to proteins from the ParB/Srx fold which can have both NTPase and nuclease activity. In contrast to the previous studies though, we attribute the nuclease activity also to GmrD as we found it to contain the HNH endonuclease motif. We revealed residues potentially important for structure and function in both domains. Moreover, we found that GmrSD systems exist predominantly as a fused, double-domain form rather than as a heterodimer and that their homologs are often encoded in regions enriched in defense and gene mobility-related elements. Finally, phylogenetic reconstructions of GmrS and GmrD domains revealed that they coevolved and only few GmrSD systems appear to be assembled from distantly related GmrS and GmrD components. Our study provides insight into sequence-structure-function relationships in the yet poorly characterized family of Type IV restriction enzymes. Comparative genomics allowed to propose possible role of GmrD domain in the function of the GmrSD enzyme and possible active sites of both GmrS and GmrD domains. Presented results can guide further experimental characterization of these enzymes.

  16. A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

    Science.gov (United States)

    Shi, Yunfang; Li, Xiaozhou; Ju, Duan; Li, Yan; Zhang, Xiuling; Zhang, Ying

    2016-04-01

    Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 ( PAX3 ), microphthalmia-associated transcription factor ( MITF ), endothelin 3 ( END3 ), endothelin receptor type B ( EDNRB ), SRY (sex determining region Y)-box 10 ( SOX10 ) and snail homolog 2 ( SNAI2 )] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.

  17. A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

    Science.gov (United States)

    Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

    2017-01-27

    Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

  18. Antiestrógenos: mecanismo de acción y aplicaciones clínicas Antiestrogens: mechanism of action and clinical applications

    Directory of Open Access Journals (Sweden)

    Arturo Barrón-González

    2001-12-01

    Full Text Available Los antiestrógenos son compuestos que antagonizan la acción de los estrógenos compitiendo por su receptor. Los estrógenos están implicados en la proliferación y diferenciación de las células blanco y se consideran entre los principales factores de riesgo para el desarrollo de cáncer de mama y útero. Algunos antiestrógenos, entre ellos el Tamoxifén, son utilizados como terapia coadyuvante en el tratamiento del cáncer de mama y se ha propuesto su inclusión en los programas de prevención, en mujeres con alto riesgo. Los antiestrógenos se clasifican en tipo I o parciales (agonista/antagonista, y tipo II o puros (antagonista puro, los cuales tienen mecanismos de acción diferentes. Debido al continuo avance en el desarrollo de nuevos compuestos con actividad antiestrogénica, y su importancia aplicativa en clínica. En este documento se presenta una revisión del estado actual del conocimiento de estos compuestos, su mecanismo de acción y su aplicación clínica. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html Antiestrogens are compounds that inhibit estrogen action by competing for its receptors. Estrogens are involved in the proliferation and differentiation of target cells and are among the main risk factors for breast and uterine cancer. Some antiestrogens, such as Tamoxifen, are used as adjuvant therapy against breast cancer, and have been proposed to be included in prevention programs for women at high risk of cancer. Antiestrogens are classified according to their action mechanisms into Type I or partial (agonistic/antagonistic, and Type II or pure (pure antagonistic. Advancements in the development of new antiestrogens and their clinical importance are reviewed in this paper, as well as their mechanism of action and clinical applications. The English version of this paper is available at: http://www.insp.mx/salud/index.html

  19. Eggplant Latent Viroid, the Candidate Type Species for a New Genus within the Family Avsunviroidae (Hammerhead Viroids)

    Science.gov (United States)

    Fadda, Z.; Daròs, J. A.; Fagoaga, C.; Flores, R.; Duran-Vila, N.

    2003-01-01

    Viroids, small circular RNAs that replicate independently and in most cases incite diseases in plants, are classified into the families Pospiviroidae, composed of species with a central conserved region (CCR) and without hammerhead ribozymes, and Avsunviroidae, composed of three members lacking CCR but able to self-cleave in both polarity strands through hammerhead ribozymes. Here we report the biological and molecular properties of Eggplant latent viroid (ELVd). Purified circular ELVd induces symptomless infections when inoculated into eggplant seedlings. ELVd can be transmitted horizontally and through seed. Sequencing 10 complete cDNA clones showed that ELVd is a circular RNA of 332 to 335 nucleotides with high variability. This RNA can adopt a quasi-rod-like secondary structure of minimal free energy and alternative foldings that permit formation of stable hammerhead structures in plus and minus strands. The ribozymes are active in vitro and, most likely, in vivo. Considering the ELVd properties to be intermediate between those of the two genera of family Avsunviroidae, we propose ELVd as the type species of a third genus with the name Elaviroid. PMID:12743309

  20. A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

    Directory of Open Access Journals (Sweden)

    V. P. Fedotov

    2015-01-01

    Full Text Available Hereditary motor-sensory neuropathy (MIM 118200 is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

  1. Organization of Laundry Facility Types and Energy Use in Owner-Occupied Multi-Family Buildings in Sweden

    Directory of Open Access Journals (Sweden)

    Lena Borg

    2014-06-01

    Full Text Available The way in which we plan and produce buildings today will influence our energy consumption in the future. This paper explores how the types of laundry facilities provided in owner-occupied multi-family buildings in Sweden have changed since the 1990s and seeks to draw attention to how this may impact energy consumption for laundry. Three factors are analyzed that influence energy consumption: the number of laundry appliances, energy performance in laundry appliances and user demand for laundry. The results indicate that there has been a change in building practices, from the domination of communal laundry rooms towards in-unit laundry facilities. The findings imply that the changes in provision of laundry facilities increase the number of appliances but do not necessarily increase energy consumption during the usage phase depending on energy performance and user behavior. Thus, developers should consider laundry facility organization when designing multi-family buildings in order to optimize the use of space and resources, given user demand and building regulations. This paper is exploratory in nature and indicates a shift in building practices that up until now has been undocumented in a research context which in turn opens up for many new research questions related to resource use but also related to the economics of developers, housing firms and households.

  2. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Wenzhi, He; Ruijin, Wen; Jieliang, Li; Xiaoyan, Ma; Haibo, Liu; Xiaoman, Wang; Jiajia, Xian; Shaoying, Li; Shuanglin, Li; Qing, Li

    2015-10-01

    Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

    Directory of Open Access Journals (Sweden)

    Yanping Lu

    Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  4. The basal energy expenditure of female athletes vs. sedentary women as related to their family history of type 2 diabetes.

    Science.gov (United States)

    Gravante, G; Pomara, F; Angelomè, C; Russo, G; Truglio, G

    2001-01-01

    The purpose of this study was to investigate the basal metabolic rate (BMR) in 16 professional sportswomen (soccer players) versus 15 sedentary women, as related to the presence (FH+) or absence (FH-) of a family history of type 2 diabetes. The sportswomen, in toto, had a significantly higher BMR than expected from predictive equations (+14.92%). However, the difference was limited only to FH- sportswomen (+18.66%, pdiabetes had a BMR lower than that of FH- sportswomen, and similar to that of sedentary sedentary women. It appears that FH+ sportswomen have a "sub-clinical metabolic inertia", representing a precocious signal in young diabetes-prone subjects, despite the modifications induced from activity on their body composition (increased FFM, even though marginally significant).

  5. Antiestrógenos: mecanismo de acción y aplicaciones clínicas

    Directory of Open Access Journals (Sweden)

    Barrón-González Arturo

    2001-01-01

    Full Text Available Los antiestrógenos son compuestos que antagonizan la acción de los estrógenos compitiendo por su receptor. Los estrógenos están implicados en la proliferación y diferenciación de las células blanco y se consideran entre los principales factores de riesgo para el desarrollo de cáncer de mama y útero. Algunos antiestrógenos, entre ellos el Tamoxifén, son utilizados como terapia coadyuvante en el tratamiento del cáncer de mama y se ha propuesto su inclusión en los programas de prevención, en mujeres con alto riesgo. Los antiestrógenos se clasifican en tipo I o parciales (agonista/antagonista, y tipo II o puros (antagonista puro, los cuales tienen mecanismos de acción diferentes. Debido al continuo avance en el desarrollo de nuevos compuestos con actividad antiestrogénica, y su importancia aplicativa en clínica. En este documento se presenta una revisión del estado actual del conocimiento de estos compuestos, su mecanismo de acción y su aplicación clínica. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html

  6. Type specimens of the Siberian and Russian Far Eastern taxa of family Polygonaceae Juss. kept in the Herbarium of the Komarov Botanical Institute (LE

    Directory of Open Access Journals (Sweden)

    A. E. Grabovskaya-Borodina

    2015-05-01

    Full Text Available Data on type material of 75 taxa of the family Polygonaceae Juss. kept in the Herbarium of the Komarov Botanical Institute (LE are summarized in the paper. Information is given about types of both the names accepted in the “Vascular plants of the Soviet Far East” and “Flora of Siberia” and the names treated as synonyms.

  7. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2015-05-01

    Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. El crecimiento endógeno a partir de las externalidades del capital humano

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    Gaviria Ríos Mario Alberto

    2007-08-01

    Full Text Available Partiendo del enfoque de Robert Lucas (1988, este trabajo desarrolla un
    modelo de crecimiento endógeno que considera dos efectos de la acumulación
    de capital humano: el primero de orden interno, que mide el impacto
    sobre la productividad de cada persona y el segundo de orden externo,
    relacionado con la contribución a la productividad de los demás factores
    de producción. Para los propósitos del ejercicio, la propuesta de Lucas
    se complementa con la descomposición del factor tecnológico en dos componentes,
    uno exógeno y otro endógeno, de acuerdo a las interacciones
    entre el capital humano y el cambio técnico.

  9. IL12RB2 gene is associated with the age of type 1 diabetes onset in Croatian family Trios.

    Directory of Open Access Journals (Sweden)

    Marina Pehlić

    Full Text Available BACKGROUND: Common complex diseases are influenced by both genetic and environmental factors. Many genetic factors overlap between various autoimmune diseases. The aim of the present study is to determine whether four genetic variants known to be risk variants for several autoimmune diseases could be associated with an increased susceptibility to type 1 diabetes mellitus. METHODS AND FINDINGS: We genotyped four genetic variants (rs2358817, rs1049550, rs6679356, rs9865818 within VTCN1, ANXA11, IL12RB2 and LPP genes respectively, in 265 T1DM family trios in Croatian population. We did not detect association of these polymorphisms with T1DM. However, quantitative transmission disequilibrium test (QTDT, orthogonal model revealed a significant association between the age of onset of T1DM and IL12RB2 rs6679356 variant. An earlier onset of T1DM was associated with the rs6679356 minor dominant allele C (p = 0.005. The association remained significant even after the Bonferroni correction for multiple testing and permutation. CONCLUSIONS: Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene, sarcoidosis (ANXA11 gene, primary biliary cirrhosis (IL12RB2 gene and celiac disease (LPP gene were not associated with type 1 diabetes in our dataset. Nevertheless, association of IL12RB2 rs6679356 polymorphism with the age of T1DM onset suggests that this gene plays a role in defining the time of disease onset.

  10. Type 2 diabetes family histories, body composition and fasting glucose levels: a cross-section analysis in healthy sedentary male and female.

    Science.gov (United States)

    Bianco, Antonino; Pomara, Francesco; Thomas, Ewan; Paoli, Antonio; Battaglia, Giuseppe; Petrucci, Marco; Proia, Patrizia; Bellafiore, Marianna; Palma, Antonio

    2013-01-01

    Diabetes type 2 is a world wide spread disease with a multifactorial pathogenetic evolution. Various factors like obesity, physical inactivity and poor lifestyle habits contribute to its development. The aim of this study was to verify if in young healthy sedentary male and female there is positive correlation between family history to type 2 diabetes and an increase in body weight and fat mass, or alterations in basal glycemia values. Totally183 male and 237 female healthy sedentary subjects were analysed in 2012, in Italy. They were divided in three groups: FH(+) with first degree family history, FH(++) with second degree family history and FH(-) with no family history. Anthropometrics, body composition and blood parameters were assessed. Male had the highest BMI values (Plife-style changes, such as increased physical activity and controlled quantity and quality of food intake.

  11. RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

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    Xiao-Ping Qi

    Full Text Available BACKGROUND: Whole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia type 2/familial medullary thyroid carcinoma using this approach. METHODOLOGY/PRINCIPAL FINDINGS: We sequenced the whole exome of six individuals from a large Chinese MEN2A/FMTC pedigree to identify the variants of the RET (REarranged during Transfection protooncogene and followed this by validation. Then prophylactic or surgical thyroidectomy with modified or level VI lymph node dissection and adrenalectomy were performed for the carriers. The cases were closely followed up. Massively parallel sequencing revealed four missense mutations of RET. We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C634Y/V292M/R67H/R982C compound mutation, due to the involvement of p.C634Y in the proband with MEN 2A and p.V292M/R67H/R982C in the proband's husband with FMTC. In the maternal origin, p.C634Y caused bilateral MTC in all 5 cases and bilateral pheochromocytoma in 2 of the 5; the earliest onset age was 28 years. In the paternal origin, one of the six p.V292M/R67H/R982C carriers presented bilateral MTC (70 years old, one only had bilateral C-cell hyperplasia (44 years, two had bilateral multi-nodules (46 and 48 years and two showed no abnormality (22 and 19 years. CONCLUSIONS/SIGNIFICANCE: The results confirmed the successful clinical utility of whole exome sequencing, and our data suggested that the p.C634Y/V292M/R67H/R982C mutation of RET exhibited a more aggressive clinical phenotype than p.C634Y or p.V292M/R67H/R982C, while p.V292M/R67H/R982C presented a relatively milder pathogenicity of MTC and likely predisposed to FMTC.

  12. Genetic diversity of the Mycobacterium tuberculosis Beijing family based on SNP and VNTR typing profiles in Asian countries.

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    Yih-Yuan Chen

    Full Text Available The Mycobacterium tuberculosis (MTB Beijing strain is highly virulent, drug resistant, and endemic over Asia. To explore the genetic diversity of this family in several different regions of eastern Asia, 338 Beijing strains collected in Taiwan (Republic of China were analyzed by mycobacterial interspersed repetitive unit-variable number tandem repeat (MIRU-VNTR typing and compared with published MIRU-VNTR profiles and by the Hunter-Gaston diversity index (HGDI of Beijing strains from Japan and South Korea. The results revealed that VNTR2163b (HGDI>0.6 and five other loci (VNTR424, VNTR4052, VNTR1955, VNTR4156 and VNTR 2996; HGDI>0.3 could be used to discriminate the Beijing strains in a given geographic region. Analysis based on the number of VNTR repeats showed three VNTRs (VNTR424, 3192, and 1955 to be phylogenetically informative loci. In addition, to determine the geographic variation of sequence types in MTB populations, we also compared sequence type (ST data of our strains with published ST profiles of Beijing strains from Japan and Thailand. ST10, ST22, and ST19 were found to be prevalent in Taiwan (82% and Thailand (92%. Furthermore, classification of Beijing sublineages as ancient or modern in Taiwan was found to depend on the repeat number of VNTR424. Finally, phylogenetic relationships of MTB isolates in Taiwan, South Korea, and Japan were revealed by a minimum spanning tree based on MIRU-VNTR genotyping. In this topology, the MIRU-VNTR genotypes of the respective clusters were tightly correlated to other genotypic characters. These results are consistent with the hypothesis that clonal evolution of these MTB lineages has occurred.

  13. Genetic Diversity of the Mycobacterium tuberculosis Beijing Family Based on SNP and VNTR Typing Profiles in Asian Countries

    Science.gov (United States)

    Chen, Yih-Yuan; Chang, Jia-Ru; Huang, Wei-Feng; Kuo, Shu-Chen; Su, Ih-Jen; Sun, Jun-Ren; Chiueh, Tzong-Shi; Huang, Tsi-Shu; Chen, Yao-Shen; Dou, Horng-Yunn

    2012-01-01

    The Mycobacterium tuberculosis (MTB) Beijing strain is highly virulent, drug resistant, and endemic over Asia. To explore the genetic diversity of this family in several different regions of eastern Asia, 338 Beijing strains collected in Taiwan (Republic of China) were analyzed by mycobacterial interspersed repetitive unit-variable number tandem repeat (MIRU-VNTR) typing and compared with published MIRU-VNTR profiles and by the Hunter-Gaston diversity index (HGDI) of Beijing strains from Japan and South Korea. The results revealed that VNTR2163b (HGDI>0.6) and five other loci (VNTR424, VNTR4052, VNTR1955, VNTR4156 and VNTR 2996; HGDI>0.3) could be used to discriminate the Beijing strains in a given geographic region. Analysis based on the number of VNTR repeats showed three VNTRs (VNTR424, 3192, and 1955) to be phylogenetically informative loci. In addition, to determine the geographic variation of sequence types in MTB populations, we also compared sequence type (ST) data of our strains with published ST profiles of Beijing strains from Japan and Thailand. ST10, ST22, and ST19 were found to be prevalent in Taiwan (82%) and Thailand (92%). Furthermore, classification of Beijing sublineages as ancient or modern in Taiwan was found to depend on the repeat number of VNTR424. Finally, phylogenetic relationships of MTB isolates in Taiwan, South Korea, and Japan were revealed by a minimum spanning tree based on MIRU-VNTR genotyping. In this topology, the MIRU-VNTR genotypes of the respective clusters were tightly correlated to other genotypic characters. These results are consistent with the hypothesis that clonal evolution of these MTB lineages has occurred. PMID:22808061

  14. pyGeno: A Python package for precision medicine and proteogenomics.

    Science.gov (United States)

    Daouda, Tariq; Perreault, Claude; Lemieux, Sébastien

    2016-01-01

    pyGeno is a Python package mainly intended for precision medicine applications that revolve around genomics and proteomics. It integrates reference sequences and annotations from Ensembl, genomic polymorphisms from the dbSNP database and data from next-gen sequencing into an easy to use, memory-efficient and fast framework, therefore allowing the user to easily explore subject-specific genomes and proteomes. Compared to a standalone program, pyGeno gives the user access to the complete expressivity of Python, a general programming language. Its range of application therefore encompasses both short scripts and large scale genome-wide studies.

  15. Enteógenos e Inteligência Existencial: Plantas Mestres como Instrumentos Cognitivos

    OpenAIRE

    Kenneth Tupper

    2012-01-01

    DOI: 10.12957/periferia.2011.3946 A partir de recentes mudanças nas legislações em relação às drogasem diferentes países, investiguei o potencial dos enteógenos (i.e.,plantas psicoativas usadas como sacramentos espirituais) comoinstrumentos para favorecer a inteligência existencial. PlantasMestres das Américas como a ayahuasca, os cogumelos depsilocibina, o peiote e o soma indo-ariano da Eurásia, são alguns dosexemplos de enteógenos que foram e continuam a ser utilizados, nopassado e no prese...

  16. Hongos Fitopatógenos asociados a semillas de palto (Persea Americana mill.)

    OpenAIRE

    Leon Ttacca, Betsabe; Universidad Nacional del Altiplano Puno Perú; Mattos Calderon, Leonor; Universidad Nacional Agraria La Molina - Lima Perú

    2016-01-01

    Una serie de enfermedades severas de origen fungoso son diseminadas por semillas de palto, y pueden causar una disminución de la producción en aproximadamente el 14 % y una reducción de calidad en un 10 %. El presente trabajo consistió en aislar, identificar, determinar la frecuencia y el porcentaje de semillas infectadas por hongos fitopatógenos presentes en las semillas de palto. A partir del embrión y cotiledón de 200 semillas de palto de la raza Mexicana se aislo los hongos fitopatógenos ...

  17. Concentraciones del activador tisular del plasminógeno y del inhibidor del activador del plasminógeno en pacientes con homocistinuria clásica

    Directory of Open Access Journals (Sweden)

    Beatriz Meneses

    2001-04-01

    Full Text Available El aumento moderado o severo de Homocisteína (Hcy en sangre y las alteraciones en el sistema fibrinolítico, se asocian con enfermedad vascular que afecta venas y arterias de todos los calibres. Los pacientes con homocistinuria clásica padecen con mucha frecuencia eventos tromboembólicos, que son su principal causa de mortalidad. El objetivo de este estudio fue determinar las concentraciones de Hcy, Inhibidor del Activador del Plasminógeno tipo 1 (PAI-1 y Activador tisular del Plasminógeno (tPA en pacientes con homocistinuria clásica, en familiares de éstos y en población control sana.

  18. Psychometric Properties of the Family Support Scale Adapted for African American Women with Type 2 Diabetes Mellitus.

    Science.gov (United States)

    Littlewood, Kerry; Cummings, Doyle M; Lutes, Lesley; Solar, Chelsey

    2015-01-01

    The purpose of our study was two-fold: 1) adapt and test a social support measure specific to the experiences of African American women with type 2 diabetes mellitus (T2DM); 2) examine its relationship to psychosocial measures. 200 rural African American women with uncontrolled T2DM participating in a randomized controlled trial completed surveys at baseline on their social support, empowerment, self-care, self-efficacy, depression and diabetes distress. Exploratory factor analysis and correlation analysis were conducted to test the psychometric properties of the Dunst Family Support Scale adapted for AA women with T2DM (FSS-AA T2DM) and its relationship with other psychosocial measures. The 16 items of the FSS-AA T2DM loaded onto three distinct factors: parent and spouse/partner support, community and medical support, and extended family and friends support. Reliability for the entire scale was good (Cronbach's α = .90) and was acceptable to high across these three factors (Cronbach's α of .86, .83, and .83 respectively). All three factors were significantly correlated with self-reported empowerment, self-care, self-efficacy, depression and diabetes distress, although the pattern was different for each factor. FSS-AA-T2DM showed good concurrent validity when compared with similar items on the Diabetes Distress Scale. The FSS-AA T2DM, a 16-item scale measuring social support among rural African American women with T2DM, is internally consistent and reliable. Findings support the utility of this screening tool in this population, although additional testing is needed with other groups in additional settings.

  19. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

    Science.gov (United States)

    Jalilian, Nazanin; Tabatabaiefar, Mohammad Amin; Farhadi, Mohammad; Bahrami, Tayyeb; Noori-Daloii, Mohammad Reza

    2015-10-01

    Sensorineural hearing impairment (HI) is one of the most frequent congenital defects, with a prevalence of 1 in 500 among neonates. Although there are over 400 syndromes involving HI, most cases of HI are nonsyndromic (70%), 20% of which follow autosomal dominant mode of inheritance. Waardenburg syndrome (WS) ranks first among autosomal dominant syndromic forms of HI. WS is characterized by sensorineural hearing impairment, pigmentation abnormalities of hair and skin and hypoplastic blue eyes or heterochromia iridis. WS is subdivided into four major types, WS1-WS4. WS1 is diagnosed by the presence of dystopia canthorum and PAX3 is the only gene involved. This study aims to determine the pathogenic mutation in a large Iranian pedigree affected with WS1 in order to further confirm the clinical diagnosis. In the present study, a family segregating HI was ascertained in a genetic counseling center. Upon clinical inspection, white forelock, dystopia canthorum, broad high nasal root and synophrys, characteristic of WS1 were evident. In order to clarify the genetic etiology and confirm the clinical data, primers were designed to amplify exons and exon-intron boundaries of the responsible gene, PAX3 with 10 exons, followed by the Sanger DNA sequencing method. Genetic analysis of PAX3 revealed a novel mutation in PAX3 (c.1024_1040 del AGCACGATTCCTTCCAA). Our data provide genotype-phenotype correlation for the mutation in PAX3 and WS1 in the studied family, with implications for genetic counseling, which necessitates detailed clinical inspection of HI patients to distinguish syndromic HI from the more common non-syndromic cases. Our results reveal the value of phenotype-directed genetic analysis and could further expand the spectrum of PAX3 mutations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  20. Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.

    Science.gov (United States)

    Larsen, Z M; Johannesen, J; Kristiansen, O P; Nerup, J; Pociot, F

    2004-03-01

    To investigate whether the WFS1 gene, the gene for Wolfram syndrome, is a susceptibility gene for more common forms of diabetes in the Danish population. One hundred and fifty-two Danish Type 1 diabetes mellitus sib-pair families were genotyped for two microsatellite markers situated within 5 cM of the WFS1 gene and analysed for linkage and association using the sib-TDT. The entire coding region, the 5'UTR and 3'UTR of the WFS1 gene, were screened for mutations by direct sequencing in 29 selected Type 1 diabetes patients. Four of the identified mutations were tested for linkage and association in 255 Danish Type 1 diabetes families (including 103 simplex families). Evidence for linkage to Type 1 diabetes was found as the second most frequent allele of the marker D4S394 were transmitted 137 times (T = 61%) and not transmitted 88 times to affected offspring (Puc = 0.0011). Twelve mutations were found in the coding region and three mutations in the 3'UTR. No evidence for linkage and association to Type 1 diabetes was found testing four of the identified amino acid substitutions. Evidence of linkage to Type 1 diabetes was observed in the Danish family collection. However, no evidence of linkage and association was observed for any of the analysed polymorphisms, suggesting that other variations must be responsible for the observed evidence of linkage in the region.

  1. Historia del conocimiento de los perisodáctilos del Neógeno español

    Directory of Open Access Journals (Sweden)

    Alberdi, M. T.

    2006-12-01

    Full Text Available This paper presents a brief review on the studies of the Order Perissodactyla from the Spanish Neogene. References begin with the first records during the XIX century, and continue until present, summarizing the progress and knowledge of this conspicuous group of mammals in Spain. The paper focuses mainly on families Equidae and Rhinocerotidae, whose remains are very abundant and have a large temporal distribution, giving place to a huge amount of documentation. More scarce references concern families Tapiridae and Chalicotheriidae, owing to their more restricted records.En el presente trabajo, se realiza una breve historia del estudio de los Perisodáctilos del Neógeno de España. Abarca las distintas vicisitudes de estos estudios desde las primeras citas de su presencia en suelo español durante el siglo XIX hasta nuestros días. Se enfoca principalmente en los representantes de las familias Equidae y Rhinocerothidae, que están ampliamente representadas a lo largo y ancho de la Península y sobre los que hay abundante documentación. Más brevemente, se trata la Familia Tapiridae, cuyo registro es mucho más restringido, y se hace mención de la Familia Chalicotheriidae que, aunque muy escasa, también está presente en la Península Ibérica.

  2. [Structure and Family Type in Patients With Substance Abuse or Dependence Psychoactive Rehabilitation Center of Addiction in the Municipality of Chia Cundinamarca].

    Science.gov (United States)

    Vargas Navarro, Pedro; Parra Vera, Mario Danilo; Arévalo Zamora, Caterín; Cifuentes Gaitán, Luisa Karen; Valero Carvajal, Jaime; Sierra de Jaramillo, Margarita

    2015-01-01

    To determine the family type, family structure in a group of patients with a diagnosis of substance abuse or dependence who were at a rehabilitation center for addiction during the period between August and October 2009. Through a descriptive qualitative-interpretative methodology 10 patients who met inclusion criteria for substance dependence or abuse were studied. The fieldwork and transcripts were made for three months by non-participant observation, non-structured interviews and examination of patients' clinical history. Seven of the families interviewed were single-parent families with an unconventional organization on "gender roles". Single-parent families favored loneliness, difficulty in rule-setting, de-idealization of the place of the father in the family structure and a constant search for complicity. In the analysis by categories, we found that in 10 families in the study of individuals with addictions it is common to find family structure characteristics such as inadequate communication, lack of authority rules and limits, presence of triangulations, the lack of cohesion due to the existence of a disconnected relationship pattern and changed roles compared to conventional gender. The search for the affection of the mother at her emotional overload absence of roles and lack of father, raised by the separation of the couple, was found as an essential aspect underlying the addictive behavior. A pattern of parental abandonment is configured. The findings confirmed what has been mentioned by various authors regarding the characteristics of the family typology structure and personal factors in patients with addictions, in addition to their need for affection combined with the desire for the mother's presence. The family typology does not determine for itself the abuse of psychoactive substances, but the influence of other factors such as family structure, especially deficient affective interactions, which should be considered in the development of

  3. Does childhood overweight, parental perception of overweight, or family history of diabetes mellitus increase parental perception of type 2 diabetes risk for their child?

    Science.gov (United States)

    Lee, Joyce M; Woolford, Susan; Herman, William H; Clark, Sarah J

    2010-03-01

    To evaluate factors that influence parental perception of diabetes mellitus risk for their child. Self-administered survey of parents in a managed care plan. Child overweight status, family history of type 2 diabetes, and accurate parental perception of their child's overweight status were independent predictors of parental worry about diabetes and perception of greater diabetes risk for their child. Accurate parental perception of their child's weight status and a family history of type 2 diabetes may serve as useful motivators in the clinical setting for diabetes prevention.

  4. Transmission of Human Herpesvirus Type 8 Infection Within Families in American Indigenous Populations From the Brazilian Amazon

    Science.gov (United States)

    Borges, Jaila D.; Souza, Vanda A. U. F.; Giambartolomei, Claudia; Dudbridge, Frank; Freire, Wilton S.; Gregório, Shinai Arriel; Torrez, Pasesa Pascuala Quispe; Quiroga, Mariana; Mayaud, Philippe; Pannuti, Claudio S.; Nascimento, Maria Cláudia

    2012-01-01

    Background The intrafamilial dynamics of endemic infection with human herpesvirus type 8 (HHV-8) in Amerindian populations is unknown. Methods Serum samples were obtained from 517 Amerindians and tested for HHV-8 anti–latent nuclear antigen (anti-LANA) and antilytic antibodies by immunofluorescence assays. Logistic regression and mixed logistic models were used to estimate the odds of being HHV-8 seropositive among intrafamilial pairs. Results HHV-8 seroprevalence by either assay was 75.4% (95% confidence interval [CI]: 71.5%–79.1%), and it was age-dependent (Ptrend 4) number of siblings (OR, 3.20, 95% CI: 1.33–7.67). In separate analyses by serological assay, there was strong dependence in mother–offspring (OR 8.94, 95% CI: 2.94–27.23) and sibling pairs aged ≥10 years (OR, 11.91, 95% CI: 2.23–63.64) measured by LANA but not lytic antibodies. Conclusions This pattern of familial dependence suggests that, in this endemic population, HHV-8 transmission mainly occurs from mother to offspring and between close siblings during early childhood, probably via saliva. The mother to offspring dependence was derived chiefly from anti-LANA antibodies. PMID:22474036

  5. Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Glerup, Simon; Gesslein, Bodil

    2016-01-01

    )) phenocopy several FHM2-relevant disease traits e.g., by mimicking mood depression and OCD. In vitro studies showed impaired glutamate uptake in hippocampal mixed astrocyte-neuron cultures from α2(G301R/G301R) E17 embryonic mice, and moreover, induction of cortical spreading depression (CSD) resulted......Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...... and psychiatric manifestations, such as obsessive-compulsive disorder (OCD). FHM2 disease-mutations locate to the ATP1A2 gene encoding the astrocyte-located α2-isoform of the sodium-potassium pump (α2Na(+)/K(+)-ATPase). We show that knock-in mice heterozygous for the FHM2-associated G301R-mutation (α2(+/G301R...

  6. Cardiovascular risk in Gullah African Americans with high familial risk of type 2 diabetes mellitus: project SuGAR.

    Science.gov (United States)

    Hunt, Kelly J; Kistner-Griffin, Emily; Spruill, Ida; Teklehaimanot, Abeba A; Garvey, W Timothy; Sale, Michèle; Fernandes, Jyotika

    2014-10-01

    To determine the prevalence of cardiovascular disease, levels of cardiovascular risk factors, and extent of preventive care in Gullah African Americans with a high familial risk of type 2 diabetes mellitus. Between 1995 and 2003, 1321 Gullah African Americans with a high prevalence of diabetes mellitus from the South Carolina Sea Islands consented to and enrolled in the Sea Islands Genetic African American Registry (Project SuGAR). A cross-sectional analysis of cardiometabolic risk, preventive care, and self-reported cardiovascular disease was conducted. Cardiometabolic risk factor levels were high and vascular disease was prevalent. Among the subjects with diabetes mellitus, the mean disease duration was 10.5 years; approximately one-third reported reduced vision or blindness; and >80% reported numbness, pain, or burning in their feet. Preventive diabetes care was limited, with <60%, <25%, and <40% seeing an ophthalmologist, podiatrist, and dentist, respectively, within the past year. Only 54.4% of women and 39.3% of men reported daily glucose monitoring. As the largest existing study of Gullah individuals, our study offers insight into not only the level of cardiovascular risk in this population but also the pathophysiological mechanisms central to ancestral differences in cardiometabolic risk in the broader African American population.

  7. On the Emerging Role of the Taste Receptor Type 1 (T1R Family of Nutrient-Sensors in the Musculoskeletal System

    Directory of Open Access Journals (Sweden)

    Shoichiro Kokabu

    2017-03-01

    Full Text Available The special sense of taste guides and guards food intake and is essential for body maintenance. Salty and sour tastes are sensed via ion channels or gated ion channels while G protein-coupled receptors (GPCRs of the taste receptor type 1 (T1R family sense sweet and umami tastes and GPCRs of the taste receptor type 2 (T2R family sense bitter tastes. T1R and T2R receptors share similar downstream signaling pathways that result in the stimulation of phospholipase-C-β2. The T1R family includes three members that form heterodimeric complexes to recognize either amino acids or sweet molecules such as glucose. Although these functions were originally described in gustatory tissue, T1R family members are expressed in numerous non-gustatory tissues and are now viewed as nutrient sensors that play important roles in monitoring global glucose and amino acid status. Here, we highlight emerging evidence detailing the function of T1R family members in the musculoskeletal system and review these findings in the context of the musculoskeletal diseases sarcopenia and osteoporosis, which are major public health problems among the elderly that affect locomotion, activities of daily living, and quality of life. These studies raise the possibility that T1R family member function may be modulated for therapeutic benefit.

  8. Patógenos introducidos al Perú en post larvas de Litopenaeus vannamei importadas

    Directory of Open Access Journals (Sweden)

    Mervin Guevara

    2012-11-01

    Full Text Available El comercio internacional de animales acuáticos es uno de los factores más importantes en la introducción involuntaria de patógenos a una región libre de estos. Los patógenos introducidos han sido causa de enormes pérdidas económicas en organismos bajo cultivo y daños ecológicos en poblaciones silvestres. En este trabajo, utilizando la técnica de la PCR se analizaron postlarvas de Litopenaeus vannamei importadas desde Ecuador para ser utilizada en los cultivos de langostinos en Tumbes. La finalidad fue detectar patógenos como el virus de la mancha blanca (WSV, virus de la cabeza amarilla (YHV, virus de la necrosis hipodérmica y hematopoyética infecciosa (IHHNV, Baculovirus penaei (BP, virus del síndrome de Taura (TSV y la bacteria de la hepatopancreatitis necrotizante (NHPB. Se analizaron 177 muestras de postlarvas en el año 2009 y 274 en el 2010. En el año 2009 se encontraron cuatro patógenos infecciosos en las postlarvas analizadas, siendo más frecuente el IHHNV (9,60%. En el año 2010 la frecuencia de aparición de postlarvas infectadas con IHHNV fue mayor (16,79%. Tanto en el 2009 como en el 2010 se encontraron postlarvas positivas a NHPB, BP y TSV

  9. El hidrógeno y la energía

    Directory of Open Access Journals (Sweden)

    Aurelio Mendoza Medellín

    2006-01-01

    Full Text Available El hidrógeno es el elemento más simple, pero es fundamental para la vida. En el futuro sustituirá a los combustibles fósiles como fuente de energía para las máquinas hechas por el hombre. Hoy en día su uso es muy caro, pero ya existen motores que trabajan quemando este gas. En el sol la fusión de hidrógeno libera cantidades inconmensurables de energía, que en parte es captada por los cloroplastos, que la transforman en la energía química contenida en los carbohidratos resultantes de la fotosíntesis. Esto implica la transferencia del hidrógeno del agua al dióxido de carbono. Los animales liberan la energía de los combustibles biológicos revirtiendo dicha reacción a través del metabolismo oxidativo, la cadena respiratoria y la fosforilación oxidativa. El hidrógeno es vital para producir ATP y por lo tanto para la vida.

  10. Geno protective and anti-apoptotic effect of green tea against ...

    African Journals Online (AJOL)

    Geno protective and anti-apoptotic effect of green tea against perinatal lipopolysaccharide-exposure induced liver toxicity in rat newborns. Ahmed A. Allam, Sami A. Gabr, Jamaan Ajarem, Ahmad H. Alghadir, Revathi Sekar, Billy K.C. Chow ...

  11. Microbiología de la producción de hidrógeno

    OpenAIRE

    López Pérez, José Pedro

    2011-01-01

    Este artículo muestra las directrices para lograr el éxito en la producción microbiológica de hidrógeno (a microescala) como experiencia en un laboratorio de educación secundaria obligatoria y las repercusiones sociales como fuente de energía renovable.

  12. Frecuencia del antígeno y aloanticuerpos del sistema Diego en donantes de sangre.

    Science.gov (United States)

    Góngora, Fernando B; Chiriboga-Ponce, Rosa F

    2018-01-01

    El sistema Diego es un sistema sanguíneo irregular involucrado de manera clínica en casos de enfermedad hemolítica del recién nacido y en reacciones postransfusionales, dentro de este sistema de han identificado a 22 antígenos eritrocitarios de los cuales el par Di a /Di b son los de mayor importancia por su potencial inmunogénico. Determinar la frecuencia del antígeno Di a y la identificación del aloanticuerpo en la población ecuatoriana. Se realizó un muestreo aleatorio simple y se testó mediante aglutinación en tubo la presencia o ausencia del antígeno y en metodología en gel la presencia del aloanticuerpo anti-Di a . se estableció una prevalencia del antígeno Di a del 25% frente a un 6.09% de aloinmunización por dicho antígeno en donantes de sangre ecuatorianos; no existieron diferencias significativas en la asociación de las variables, siendo estas independientes de la edad y procedencia del donante, sin embargo se pudo constatar que en Ecuador existe población portadora del antígeno Diego Di a y casos de aloinmunización por este sistema debidos probablemente a la incompatibilidad transfusional sea esta por vía maternofetal o por transfusiones de sangre. La distribución de la frecuencia de antígenos y aloanticuerpos del sistema Diego es casi uniforme dentro de la población de nuestro país, probablemente por ser un territorio con alto grado de mestizaje, por lo que es de vital importancia la implementación de la detección de este sistema sanguíneo y su inclusión dentro de los protocolos de detección de anticuerpos irregulares en los bancos de sangre de Ecuador. Copyright: © 2018 SecretarÍa de Salud

  13. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    Van Den Berg, Maarten P.; Wilde, Arthur A. M.; Viersma, Jan Willem; Brouwer, Jan; Haaksma, Jaap; Van Der Hout, Annemieke H.; Stolte-Dijkstra, Irene; Bezzina, Connie R.; Van Langen, Irene M.; Beaufort-Krol, Gertie C. M.; Hein Cornel, J.A.N.; Crijns, Harry J. G. M.

    Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this

  14. Type of Violence, Age, and Gender Differences in the Effects of Family Violence on Children's Behavior Problems: A Mega-Analysis

    Science.gov (United States)

    Sternberg, Kathleen J.; Baradaran, Laila P.; Abbott, Craig B.; Lamb, Michael E.; Guterman, Eva

    2006-01-01

    A mega-analytic study was designed to exploit the power of a large data set combining raw data from multiple studies (n=1870) to examine the effects of type of family violence, age, and gender on children's behavior problems assessed using the Child Behavior Checklist (CBCL). Our findings confirmed that children who experienced multiple forms of…

  15. Role of adiposity and lifestyle in the relationship between family history of diabetes and 20-year incidence of type 2 diabetes in US women

    NARCIS (Netherlands)

    van 't Riet, E.; Dekker, J.M.; Sun, Q.; Nijpels, G.; Hu, F.B.; van Dam, R.M.

    2010-01-01

    OBJECTIVE - To evaluate to what extent the association between family history of diabetes and risk of type 2 diabetes can be explained by excess adiposity and lifestyle risk factors. RESEARCH DESIGN AND METHODS - We analyzed data from 73,227 women who participated in the Nurses' Health Study cohort.

  16. High degree of concordance between flow cytometry and geno2pheno methods for HIV-1 tropism determination in proviral DNA

    Directory of Open Access Journals (Sweden)

    Alex José Leite Torres

    2015-03-01

    Full Text Available Use of CCR5 antagonists requires previous viral tropism determination. The available methods have high cost, are time-consuming, or require highly trained personnel, and sophisticated equipment. We compared a flow cytometry-based tropism assay with geno2pheno method to determine HIV-1 tropism in AIDS patients, in Bahia, Brazil. We tested peripheral blood mononuclear cells of 102 AIDS patients under antiretroviral therapy by using a cytometry-based tropism assay and geno2pheno assay. Cellular membrane receptors were identified by using CXCR4, CCR5 and CD4 monoclonal antibodies, while detection of cytoplasmic mRNAs for gag and pol HIV regions was achieved by using a labeled probe. Genotypic identification of X4 and R5 tropic viruses was attempted by geno2pheno algorithm. There was a high degree of concordance between cytometry-based tropism assay and geno2pheno algorithm in determination of HIV-1 tropism. Cytometry-based tropism assay demonstrated higher sensitivity and specificity in comparison to geno2pheno, which was used as a gold-standard. One sample could not be amplified by geno2pheno method, but was classified as duotropic by cytometry-based tropism assay. We did not find any association between CD4+ count or plasma HIV-1 RNA viral load and tropism results. The overall performances of cytometry-based tropism assay and geno2pheno assay were almost identical in determination of HIV-1 tropism.

  17. High degree of concordance between flow cytometry and geno2pheno methods for HIV-1 tropism determination in proviral DNA.

    Science.gov (United States)

    Torres, Alex José Leite; Brígido, Luis Fernando de Macedo; Abrahão, Marcos Herculano Nunes; Angelo, Ana Luiza Dias; de Jesus Ferreira, Gilcivaldo; Coelho, Luana Portes; Ferreira, João Leandro; Jorge, Célia Regina Mayoral Pedroso; Netto, Eduardo Martins; Brites, Carlos

    2015-01-01

    Use of CCR5 antagonists requires previous viral tropism determination. The available methods have high cost, are time-consuming, or require highly trained personnel, and sophisticated equipment. We compared a flow cytometry-based tropism assay with geno2pheno method to determine HIV-1 tropism in AIDS patients, in Bahia, Brazil. We tested peripheral blood mononuclear cells of 102 AIDS patients under antiretroviral therapy by using a cytometry-based tropism assay and geno2pheno assay. Cellular membrane receptors were identified by using CXCR4, CCR5 and CD4 monoclonal antibodies, while detection of cytoplasmic mRNAs for gag and pol HIV regions was achieved by using a labeled probe. Genotypic identification of X4 and R5 tropic viruses was attempted by geno2pheno algorithm. There was a high degree of concordance between cytometry-based tropism assay and geno2pheno algorithm in determination of HIV-1 tropism. Cytometry-based tropism assay demonstrated higher sensitivity and specificity in comparison to geno2pheno, which was used as a gold-standard. One sample could not be amplified by geno2pheno method, but was classified as duotropic by cytometry-based tropism assay. We did not find any association between CD4+ count or plasma HIV-1 RNA viral load and tropism results. The overall performances of cytometry-based tropism assay and geno2pheno assay were almost identical in determination of HIV-1 tropism. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  18. Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

    NARCIS (Netherlands)

    Tavraz, N.N.; Friedrich, T.; Durr, K.L.; Koenderink, J.B.; Bamberg, E.; Freilinger, T.; Dichgans, M.

    2008-01-01

    Mutations in ATP1A2, the gene coding for the Na(+)/K(+)-ATPase alpha(2)-subunit, are associated with both familial hemiplegic migraine and sporadic cases of hemiplegic migraine. In this study, we examined the functional properties of 11 ATP1A2 mutations associated with familial or sporadic

  19. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome

    DEFF Research Database (Denmark)

    Bisschoff, Izak J; Zeschnigk, Christine; Horn, Denise

    2013-01-01

    have studied 55 sporadic and six familial cases of suspected OFD1. Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes. Analysis...

  20. Structural analyses of the CRISPR protein Csc2 reveal the RNA-binding interface of the type I-D Cas7 family.

    Science.gov (United States)

    Hrle, Ajla; Maier, Lisa-Katharina; Sharma, Kundan; Ebert, Judith; Basquin, Claire; Urlaub, Henning; Marchfelder, Anita; Conti, Elena

    2014-01-01

    Upon pathogen invasion, bacteria and archaea activate an RNA-interference-like mechanism termed CRISPR (clustered regularly interspaced short palindromic repeats). A large family of Cas (CRISPR-associated) proteins mediates the different stages of this sophisticated immune response. Bioinformatic studies have classified the Cas proteins into families, according to their sequences and respective functions. These range from the insertion of the foreign genetic elements into the host genome to the activation of the interference machinery as well as target degradation upon attack. Cas7 family proteins are central to the type I and type III interference machineries as they constitute the backbone of the large interference complexes. Here we report the crystal structure of Thermofilum pendens Csc2, a Cas7 family protein of type I-D. We found that Csc2 forms a core RRM-like domain, flanked by three peripheral insertion domains: a lid domain, a Zinc-binding domain and a helical domain. Comparison with other Cas7 family proteins reveals a set of similar structural features both in the core and in the peripheral domains, despite the absence of significant sequence similarity. T. pendens Csc2 binds single-stranded RNA in vitro in a sequence-independent manner. Using a crosslinking - mass-spectrometry approach, we mapped the RNA-binding surface to a positively charged surface patch on T. pendens Csc2. Thus our analysis of the key structural and functional features of T. pendens Csc2 highlights recurring themes and evolutionary relationships in type I and type III Cas proteins.

  1. Immunohistochemical detection of the latent nuclear antigen-1 of the human herpesvirus type 8 to differentiate cutaneous epidemic Kaposi sarcoma and its histological simulators Detecção imuno-histoquímica do antígeno nuclear latente-1 do herpesvirus tipo 8 para diferenciar o sarcoma de Kaposi epidêmico cutâneo de seus simuladores histológicos

    Directory of Open Access Journals (Sweden)

    Patricia Fonseca Pereira

    2013-04-01

    Full Text Available Kaposi's sarcoma is the most common neoplasia diagnosed in AIDS patients and the expression of the human herpesvirus-8 (HHV-8 latent nuclear antigen-1 has been useful for its histological diagnosis. The aim of this study is to confirm that immunohistochemistry is a valuable tool for differentiating KS from its simulators in skin biopsies of HIV patients. Immunohistochemical and histological analyses were performed in 49 Kaposi's sarcoma skin biopsies and 60 of its histological simulators. Positivity was present in the 49 Kaposi's sarcoma skin biopsies and no staining was observed in the 60 simulators analyzed, resulting in sensibility and specificity of 100%. HHV-8 immunohistochemical detection is an effective tool for diagnosing Kaposi's sarcoma, especially in early lesions in which neoplastic features are not evident. It also contributes to its histological differential diagnosis.O sarcoma de Kaposi é a neoplasia mais diagnosticada em pacientes com SIDA e a expressão do antígeno nuclear latente-1 do herpesvírus humano tipo-8 (HHV-8 tem se mostrado útil no seu diagnóstico histológico. O objetivo deste estudo é confirmar que o método imuno-histoquímico é uma ferramenta útil para diferenciar o sarcoma de Kaposi cutâneo de seus simuladores histológicos em pacientes HIV positivos. Análise histológica e imuno-histoquímica foram realizadas em 49 casos de sarcoma de Kaposi cutâneo e 60 casos de seus simuladores histológicos. Positividade à imuno-histoquímica para o antígeno nuclear latente 1 do HHV-8 foi observada nos 49 casos de sarcoma de Kaposi e nenhuma reação foi detectada nos 60 simuladores analisados, resultando em 100% de sensibilidade e especificidade. A detecção do HHV-8 por imuno-histoquímica é uma ferramenta útil para o diagnóstico de sarcoma de Kaposi, especialmente na lesão inicial cujo caráter neoplásico não é evidente, e contribui para seu diagnóstico diferencial histológico.

  2. Extracción y caracterización de antígeno micelial de Aspergillus fumigatus

    Directory of Open Access Journals (Sweden)

    Bernarda Cuadrado

    1995-06-01

    Full Text Available Este estudio presenta la estandarización y caracterización antigénica de un extracto micelial de Aspergillus fumigatus, con el fin de utilizarlo posteriormente en pruebas diagnósticas de aspergilosis pulmonar. Para la evaluación del antígeno micelial, se emplearon técnicas de doble inmunodifusión (DD, contra inmunoelectroforesis (CIE+ ID y enzimoinmuno ensayo (ELISA, comparando sus resultados con un antígeno de referencia. La concentración de proteínas y carbohidratos del antígeno estudiado fue de 8.800pglmL y 2.452 pg/mL respectivamente, muy similares a los encontrados en el antígeno de referencia. Los antígenos analizados presentaron bandas de identidad total y parcial en la DD. No hubo bandas de precipitinas al enfrentar ambos antígenos con 20 sueros negativos, utilizando las pruebas de DD y CIE+ID. En la ClE+lD se presentaron precipitinas en los lados anódico y catódico de ambos antígenos. El punto de corte determinado en la prueba de ELlSA para el antígeno del estudio fué de 0,352, con un intervalo de confianza del 95%. Es posible concluir que el antígeno micelial estudiado puede ser empleado en pruebas serológicas diagnósticas.

  3. Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family

    Science.gov (United States)

    Khaiboullina, Svetlana F.; Mendelevich, Elena G.; Shigapova, Leyla H.; Shagimardanova, Elena; Gazizova, Guzel; Nikitin, Alexey; Martynova, Ekaterina; Davidyuk, Yuriy N.; Bogdanov, Enver I.; Gusev, Oleg; van den Maagdenberg, Arn M. J. M.; Giniatullin, Rashid A.; Rizvanov, Albert A.

    2017-01-01

    Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a known genetic cause, can help in diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing to identify the causal gene mutation and (ii) measured, using Bio-Plex technology, 22 cytokines in serum of patients with familial migraine (two with hemiplegic migraine and two with migraine with aura) from a Russian family that ethnically belongs to the Tatar population. MRI scanning was used to assess cerebellar atrophy associated with migraine in mutation carriers. Results: Whole-exome sequencing revealed the R583Q missense mutation in the CACNA1A gene in the two patients with hemiplegic migraine and cerebellar ataxia with atrophy, confirming a FHM1 disorder. Two further patients did not have the mutation and suffered from migraine with aura. Elevated serum levels of pro-inflammatory and pro-nociceptive IL-6 and IL-18 were found in all four patients (compared to a reference panel), whereas pro-apoptotic SCGF-β and TRAIL were higher only in the patients with the FHM1 mutation. Also, cytokines CXCL1, HGF, LIF, and MIF were found particularly high in the two mutation carriers, suggesting a possible role of vascular impairment and neuroinflammation in disease pathogenesis. Notably, some “algesic” cytokines, such as β-NGF and TNFβ, remained unchanged or even were down-regulated. Conclusion: We present a detailed genetic, neurological, and biochemical characterization of a small Russian FHM1 family and revealed evidence for higher levels of specific cytokines in migraine patients that support migraine-associated neuroinflammation in the pathology of migraine. PMID:28900389

  4. THE RELATIONSHIP BETWEEN PERSONALITY TYPE, FAMILY SUPPORT AND DEPRESSION IN INDONESIAN ELDERLY IN THE HOME CARE CENTER OF TRESNA WERDHA MINAULA, KENDARI, INDONESIA

    Directory of Open Access Journals (Sweden)

    Taamu

    2017-06-01

    Full Text Available Background: Depression in elderly is widespread, often undiagnosed, and usually untreated. Objective: This study aimed to determine the relationship between personality, family support, and depression in elderly in the Home Care Center of Tresna Wedha Minaula Kendari. Methods: This was a correlational cross-sectional study conducted in 2015. The population in this study is all elderly people in the Home Care Center of Tresna Wedha Minaula Kendari as many as 90 persons. Of the total population, 41 samples were selected using purposive sampling. Data data were analyzed using frequency distribution and chi square test. Results: There were significant associations between personality type (p = 0.019, family support (p = 0.047, and depression in elderly persons. Conclusion: There is a significant relationship between personality type, family support, and depression in the elderly in the Home Care Center of Tresna Wedha Minaula Kendari. It is important to understand how the roles of personalities and family support from each family member contributes to depression.

  5. Efecto de rastrojos en el nitrógeno de biomasa microbiana en un agroecosistema arrocero inundado

    OpenAIRE

    Quirós Herrera, Rodolfo; Ramírez Martínez, Carlos

    2005-01-01

    Efecto de rastrojos en el nitrógeno de biomasa microbiana en un agroecosistema arrocero inundado. Del año 2002 al 2004 se investigó en un agroecosistema arrocero inundado a fin de evaluar cambios en la actividad de la biomasa microbiana y su contenido de nitrógeno "N", durante cuatro ciclos consecutivos del cultivo. Se comparó la tendencia del contenido de nitrógeno de la biomasa microbiana "NBM" en los sistemas siembra directa sobre rastrojos "SDR" y labranza mecanizada convencional "LMC". D...

  6. USO DE PRETRATAMIENTO Y NUEVO BUFFER PARA OPTIMIZAR LA PRODUCCIÓN DE HIDRÓGENO BIOLÓGICO

    OpenAIRE

    Fernando Gerosa; Rodrigo García; Florencia Daneri; Marcelo Cabezas; Verónica Martínez; Juan Franco

    2017-01-01

    El objetivo de este trabajo es optimizar la producción de hidrógeno biológico por fermentación oscura a partir de cultivos bacterianos mixtos, utilizando glucosa como fuente de carbono. Para ello se evaluó el efecto en rendimientos y porcentajes de hidrógeno, al aplicar un pretratamiento con calor del inóculo. Esto permitió alcanzar porcentajes mayores de hidrógeno y rendimientos algo superiores con respecto a cultivos sin pretratamiento. También...

  7. Efeitos de dois tipos de treinamento de natação sobre a adiposidade e o perfil lipídico de ratos obesos exógenos Effects of two different types of swimming exercise on adiposity and lipid profile in rats with exogenous obesity

    Directory of Open Access Journals (Sweden)

    Lucimara Zambon

    2009-10-01

    obesity though the consumption of a palatable fat-rich diet. The following was investigated: evolution of body weight, food intake, adiposity, fat percentage in tissues and lipid profile. METHODS: Adult rats were kept in individual cages with free access to food and water. The experimental protocol included: 1 development of exogenous obesity (3 weeks. The animals were divided into S - inactive animals fed the standard Primor® diet (n=8 and HF - inactive animals fed a high-fat diet (n=32; 2 Treatment (the 8 following weeks - the animals (n=24 were given the standard diet and divided into an inactive group, a continuous training group and an intermittent training group. Training occurred 5 times per week and was either continuous (90 minutes per day or intermittent (3 times 30 minutes per day. The animals were killed at 3 and 8 weeks and the fat tissues, the liver and the blood were collected. Adiposity, fat percentage of the fat tissues and liver, gain of body weight, food consumption and lipid profile were determined. RESULTS: The high-fat diet increased adiposity, percentage of fat in the liver, and induced dyslipidemias. Diet change and the two types of training were capable of reducing exogenous obesity. However, intermittent exercise was more efficient in reducing adiposity and preventing weight gain. CONCLUSION: When associated with a balanced diet, the trainings used in this study can be used as a strategy to control weight and dyslipidemias, both in experimental models and in human beings.

  8. F-Type Lectins: A Highly Diversified Family of Fucose-Binding Proteins with a Unique Sequence Motif and Structural Fold, Involved in Self/Non-Self-Recognition

    Directory of Open Access Journals (Sweden)

    Gerardo R. Vasta

    2017-11-01

    Full Text Available The F-type lectin (FTL family is one of the most recent to be identified and structurally characterized. Members of the FTL family are characterized by a fucose recognition domain [F-type lectin domain (FTLD] that displays a novel jellyroll fold (“F-type” fold and unique carbohydrate- and calcium-binding sequence motifs. This novel lectin family comprises widely distributed proteins exhibiting single, double, or greater multiples of the FTLD, either tandemly arrayed or combined with other structurally and functionally distinct domains, yielding lectin subunits of pleiotropic properties even within a single species. Furthermore, the extraordinary variability of FTL sequences (isoforms that are expressed in a single individual has revealed genetic mechanisms of diversification in ligand recognition that are unique to FTLs. Functions of FTLs in self/non-self-recognition include innate immunity, fertilization, microbial adhesion, and pathogenesis, among others. In addition, although the F-type fold is distinctive for FTLs, a structure-based search revealed apparently unrelated proteins with minor sequence similarity to FTLs that displayed the FTLD fold. In general, the phylogenetic analysis of FTLD sequences from viruses to mammals reveals clades that are consistent with the currently accepted taxonomy of extant species. However, the surprisingly discontinuous distribution of FTLDs within each taxonomic category suggests not only an extensive structural/functional diversification of the FTLs along evolutionary lineages but also that this intriguing lectin family has been subject to frequent gene duplication, secondary loss, lateral transfer, and functional co-option.

  9. Transmission disequilibrium of rs4809957 in type 2 diabetes mellitus families and its association with vitamin D deficiency: A family-based case-control study.

    Science.gov (United States)

    Yu, Songcheng; Li, Xing; Wang, Yan; Mao, Zhenxing; Wang, Chongjian; Ba, Yue; Li, Wenjie

    2018-04-01

    Association between T2DM and vitamin D was found in many epidemiologic reports. And 24-hydroxylase encoded by CYP24A1 is the very enzyme that degrades the active vitamin D metabolite. We aimed to investigate the association between rs4809957 in CYP24A1 and T2DM, as well as vitamin D level. A total of 419 pedigrees containing 1556 participants were included. T2DM diagnosis, 25(OH)D measurement and genotyping of rs4809957 were conducted for all the individual. Then association between rs4809957 and T2DM, as well as 25(OH)D level, was investigated by family-based association test (FBAT) and 1:1 matched case-control study. The FBAT results revealed that there was transmission disequilibrium for allele G in T2DM families by both additive model (Z = 2.183, P = 0.029049) and recessive model (Z = 2.236, P = 0.025347). Allele G was also associated with 25(OH)D level in both additive model (Z = 2.549, P = 0.010811) and dominant model (Z = 2.012, P = 0.044187). On the other hand, results of case-control study suggested that vitamin D deficiency was a risk factor for T2DM (OR 1.987; 95%CI 1.331-2.964; P = 0.001). Further stratified analysis revealed that vitamin D deficiency increased T2DM risk in women (OR 2.347; 95%CI 1.373-4.012; P = 0.002), instead of men (OR 1.600; 95%CI 0.874-2.931; P = 0.127). In addition, T2DM patients with GG and AG genotypes were more susceptible to vitamin D deficiency than the control (P = 0.006 and P = 0.038, respectively). There was transmission disequilibrium for allele G of rs4809957 in T2DM families, which was linked to vitamin D deficiency. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Estudio del daño por hidrógeno en uniones soldadas de un acero API 5L X52

    Directory of Open Access Journals (Sweden)

    Réquiz, R.

    2008-04-01

    Full Text Available The main objective of the present investigation was to study the susceptibility to hydrogen damage on a type API 5L X52 steel welded by electrical resistance. Several techniques, such as hydrogen permeation and cathodic charging were used. The metallic material was characterized using SEM and TEM. The base metal microstructure was very similar to that one corresponding to the welded area. This microstructure was mainly comprised by ferrite and perlite, differing only in the grain size. Therefore, the susceptibility to hydrogen damage was similar in both cases. It is worth mentioning that the welded area has very small dimensions. Indeed, the fusion zone is only 5 mm wide while the heat affected zone is 1 mm wide. The hydrogen damage observed was mainly in the form of blisters, which were associated to the presence of aluminum rich inclusions. Also, it was noticed partial inclusion dissolution and some matrix attack adjacent to the inclusions.

    En la presente investigación se estudió la susceptibilidad al daño por hidrógeno en un acero API 5L X52 soldado por resistencia eléctrica. Para ello, se emplearon técnicas de permeación y de carga catódica de hidrógeno. El material fue caracterizado mediante microscopía electrónica de barrido y de transmisión. La susceptibilidad al daño por hidrógeno fue similar tanto en el metal base como en el cordón de soldadura. Este comportamiento se vincula a la microestructura homogénea constituida por perlita y ferrita, que presentan ambos, aun cuando existen diferencias en el tamaño de grano. El cordón de soldadura tenía dimensiones muy pequeñas, donde la zona de fusión y la afectada por el calor poseen espesores de 5 mm y 1 mm, respectivamente. El daño inducido por hidrógeno se presentó en forma de ampollas en la superficie del material, asociado, principalmente, a la presencia de inclusiones globulares y semiglobulares ricas en aluminio. Además, se manifestó una disoluci

  11. Synergistic Effect of Family History of Diabetes and Dietary Habits on the Risk of Type 2 Diabetes in Central China

    Directory of Open Access Journals (Sweden)

    Yanyan Zhao

    2017-01-01

    Full Text Available Background. Family history of diabetes (FHD and lifestyle are associated with type 2 diabetes (T2DM, but little is known about the FHD diet interactions. We aimed to analyze the interactions of FHD and lifestyle factors in Chinese T2DM onset. Methods. This was a cross-sectional survey in central urban China (n=1234 patients with T2DM and n=8615 non-T2DM subjects. The biological interactions, defined by Rothman interactions, between FHD and each dietary factor were analyzed by using the synergy index (S scores. Results. After adjustment for age, gender, BMI, and WHR, a uniparental FHD (OR=2.84, 95% CI: 2.36–3.42, P<0.001, a paternal history of FHD (OR=2.53, 95% CI: 1.91–3.35, P<0.001, a maternal history of FHD (OR=3.27, 95% CI: 2.67–4.02, P<0.001, a biparental history of FHD (OR=5.26, 95% CI: 2.98–9.31, P<0.001, and a FHD, irrespective of the parent (OR=3.59, 95% CI: 3.08–4.17, P<0.001, were associated with T2DM onset. There were significant interactions between FHD and consuming <15 g/d of potatoes (S=1.54, 95% CI: 1.12–2.12, <8 g/d of poultry (S=1.51, 95% CI: 1.04–2.17, <85 g/d of fresh fruits (S=2.17, 95% CI: 1.63–2.88, and no freshly squeezed juice (S=2.25, 95% CI: 1.46–3.49. Conclusions. Risk of T2DM was synergistically affected by FHD and dietary habits. Nutrition educational intervention may decrease the prevalence of T2DM in the Chinese with FHD.

  12. Molecular diagnosis of MDR-TB using GenoType MTBDRplus 96 ...

    African Journals Online (AJOL)

    olayemitoyin

    rifampicin; one (16.7%) showed mono-resistance to isoniazid while two (30.0%) were resistant to the two drugs. This study shows that MDR-TB is present in Ibadan. There is a need to make DST ... According to the World Health Organization (WHO) report, one third of the current world population is infected with TB (WHO, ...

  13. La Diseminación de los Fitopatógenos

    Directory of Open Access Journals (Sweden)

    Garcés O. Carlos

    1950-03-01

    Full Text Available Como base para una mejor comprensión de los principios de Protección e Inmunización en el control de las enfermedades de las plantas y por tanto para sacar un mejor provecho en su aplicación, es necesario considerar primero las formas que tienen los patógenos cuando alcanzan el patio de infección y se establecen en sus correspondientes susceptivos, así como las fuentes de donde estos patógenos salen, los agentes que los transportan y las condiciones bajo las cuales llegan al patio de infección y se establecen allí. Debemos pues entrar a considerar al fenómeno de la diseminación.

  14. Una aproximación teórica al desarrollo endógeno

    Directory of Open Access Journals (Sweden)

    Alfredo Macías

    2004-05-01

    Full Text Available Este trabajo propone una reflexión teórica y conceptual acerca del desarrollo como proceso endógeno. La viabilidad de tal perspectiva depende, en gran medida, de si se asume o no su construcción a partir de la vida comunitaria como espacio de subjetividad. La tarea es compleja pero posible, pues parece depender de las propias comunidades y de sus capacidades para  sobreponer sus facultades reflexivas a un ethos racionalista,propio de una civilización que progresivamente niega y desestima sus dimensiones morales y afectivas. Es necesario entonces superar el fatalismo determinista de lo estructural, el reto del desarrollo endógeno es, en primer término, subjetivo y humano.

  15. El hidrógeno y la energía

    OpenAIRE

    Aurelio Mendoza Medellín

    2006-01-01

    El hidrógeno es el elemento más simple, pero es fundamental para la vida. En el futuro sustituirá a los combustibles fósiles como fuente de energía para las máquinas hechas por el hombre. Hoy en día su uso es muy caro, pero ya existen motores que trabajan quemando este gas. En el sol la fusión de hidrógeno libera cantidades inconmensurables de energía, que en parte es captada por los cloroplastos, que la transforman en la energía química contenida en los carbohidratos resultantes de la fotosí...

  16. El hidrógeno y la energía

    OpenAIRE

    Aurelio Mendoza Medellín

    2006-01-01

    El hidrógeno es el elemento más simple, pero es fundamental para la vida. En el futuro sustituirá a los combustibles fósiles como fuente de energía para las máquinas hechas por el hombre. Hoy en día su uso es muy caro, pero ya existen motores que trabajan quemando este gas. En el sol la fusión de hidrógeno libera cantidades inconmensurables de energía, que en parte es captada por los cloroplastos, que la transforman en la energía química contenida en los carbohidratos resultantes ...

  17. GenoCAD Plant Grammar to Design Plant Expression Vectors for Promoter Analysis.

    Science.gov (United States)

    Coll, Anna; Wilson, Mandy L; Gruden, Kristina; Peccoud, Jean

    2016-01-01

    With the rapid advances in prediction tools for discovery of new promoters and their cis-elements, there is a need to improve plant expression methodologies in order to facilitate a high-throughput functional validation of these promoters in planta. The promoter-reporter analysis is an indispensible approach for characterization of plant promoters. It requires the design of complex plant expression vectors, which can be challenging. Here, we describe the use of a plant grammar implemented in GenoCAD that will allow the users to quickly design constructs for promoter analysis experiments but also for other in planta functional studies. The GenoCAD plant grammar includes a library of plant biological parts organized in structural categories to facilitate their use and management and a set of rules that guides the process of assembling these biological parts into large constructs.

  18. Combined assessment of cyto-, geno-, and embryotoxicity of silica nanoparticles in experiments in vitro

    International Nuclear Information System (INIS)

    Protasova, G A; Popov, V B; Shabasheva, L V; Strekalovskii, I V; Panferova, Y A; Khlebnikova, N S; Radilov, A A

    2017-01-01

    A complex of express methods for cyto-, geno-, and embryotoxicity assessment of nanoparticles (NPs), based on the simultaneous use of three models: the cultures of pre- and post-implantation embryos of mice (egg cleavage, blastocyst formation, 1−5 day of development) and rats (head fold−neurulation stages, 30 somite pairs, 9.5−11.5 day of development), as well as human peripheral blood lymphocytes, is developed. Pathogenic (dysmorphogenic) effects of SiO 2 NPs in concentrations of 100 and 200 µg/mL on early embryo development processes were established. The cytogenetic methods used for cyto-, geno-, and mutagenicity assessment (micronuclear test under cytokinesis-block conditions, chromosomal aberrations test, and DNA comet assay) revealed no effects of SiO 2 NPs in concentrations 200, 100, and 20 µg/mL. (paper)

  19. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

  20. CCCH-type zinc finger family in maize: genome-wide identification, classification and expression profiling under abscisic acid and drought treatments.

    Directory of Open Access Journals (Sweden)

    Xiaojian Peng

    Full Text Available BACKGROUND: CCCH-type zinc finger proteins comprise a large protein family. Increasing evidence suggests that members of this family are RNA-binding proteins with regulatory functions in mRNA processing. Compared with those in animals, functions of CCCH-type zinc finger proteins involved in plant growth and development are poorly understood. METHODOLOGY/PRINCIPAL FINDINGS: Here, we performed a genome-wide survey of CCCH-type zinc finger genes in maize (Zea mays L. by describing the gene structure, phylogenetic relationships and chromosomal location of each family member. Promoter sequences and expression profiles of putative stress-responsive members were also investigated. A total of 68 CCCH genes (ZmC3H1-68 were identified in maize and divided into seven groups by phylogenetic analysis. These 68 genes were found to be unevenly distributed on 10 chromosomes with 15 segmental duplication events, suggesting that segmental duplication played a major role in expansion of the maize CCCH family. The Ka/Ks ratios suggested that the duplicated genes of the CCCH family mainly experienced purifying selection with limited functional divergence after duplication events. Twelve maize CCCH genes grouped with other known stress-responsive genes from Arabidopsis were found to contain putative stress-responsive cis-elements in their promoter regions. Seven of these genes chosen for further quantitative real-time PCR analysis showed differential expression patterns among five representative maize tissues and over time in response to abscisic acid and drought treatments. CONCLUSIONS: The results presented in this study provide basic information on maize CCCH proteins and form the foundation for future functional studies of these proteins, especially for those members of which may play important roles in response to abiotic stresses.

  1. Hidrógeno : Estudio de sus propiedades y diseño de una planta de licuado.

    OpenAIRE

    Junyent Guinart, Enric

    2011-01-01

    En el contenido de este proyecto se podrá visualizar el esquema y funcionamiento de una planta de licuado de hidrógeno, así como presentar una serie de propiedades y aspectos importantes a tener en cuanta que influyen en la elección del sistema de producción, almacenamiento y distribución del hidrógeno.

  2. Identification of Heat Shock Protein families and J-protein types by incorporating Dipeptide Composition into Chou's general PseAAC.

    Science.gov (United States)

    Ahmad, Saeed; Kabir, Muhammad; Hayat, Maqsood

    2015-11-01

    Heat Shock Proteins (HSPs) are the substantial ingredients for cell growth and viability, which are found in all living organisms. HSPs manage the process of folding and unfolding of proteins, the quality of newly synthesized proteins and protecting cellular homeostatic processes from environmental stress. On the basis of functionality, HSPs are categorized into six major families namely: (i) HSP20 or sHSP (ii) HSP40 or J-proteins types (iii) HSP60 or GroEL/ES (iv) HSP70 (v) HSP90 and (vi) HSP100. Identification of HSPs family and sub-family through conventional approaches is expensive and laborious. It is therefore, highly desired to establish an automatic, robust and accurate computational method for prediction of HSPs quickly and reliably. Regard, a computational model is developed for the prediction of HSPs family. In this model, protein sequences are formulated using three discrete methods namely: Split Amino Acid Composition, Pseudo Amino Acid Composition, and Dipeptide Composition. Several learning algorithms are utilized to choice the best one for high throughput computational model. Leave one out test is applied to assess the performance of the proposed model. The empirical results showed that support vector machine achieved quite promising results using Dipeptide Composition feature space. The predicted outcomes of proposed model are 90.7% accuracy for HSPs dataset and 97.04% accuracy for J-protein types, which are higher than existing methods in the literature so far. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. The development of postinstitutionalized versus parent-reared Russian children as a function of age at placement and family type.

    Science.gov (United States)

    McCall, Robert B; Muhamedrahimov, Rifkat J; Groark, Christina J; Palmov, Oleg I; Nikiforova, Natalia V; Salaway, Jennifer; Julian, Megan M

    2016-02-01

    A total of 149 children, who spent an average of 13.8 months in Russian institutions, were transferred to Russian families of relatives and nonrelatives at an average age of 24.7 months. After residing in these families for at least 1 year (average = 43.2 months), parents reported on their attachment, indiscriminately friendly behavior, social-emotional competencies, problem behaviors, and effortful control when they were 1.5-10.7 years of age. They were compared to a sample of 83 Russian parents of noninstitutionalized children, whom they had reared from birth. Generally, institutionalized children were rated similarly to parent-reared children on most measures, consistent with substantial catch-up growth typically displayed by children after transitioning to families. However, institutionalized children were rated more poorly than parent-reared children on certain competencies in early childhood and some attentional skills. There were relatively few systematic differences associated with age at family placement or whether the families were relatives or nonrelatives. Russian parent-reared children were rated as having more problem behaviors than the US standardization sample, which raises cautions about using standards cross-culturally.

  4. Atividade antifúngica de extratos vegetais sobre o desenvolvimento de fitopatógenos

    Directory of Open Access Journals (Sweden)

    L.R. Venturoso

    2011-03-01

    Full Text Available A formação de uma consciência ecológica e a busca pela preservação do meio ambiente tem gerado a necessidade de testar produtos naturais, visando um controle alternativo de fitopatógenos. Desta forma, objetivou-se avaliar o potencial de dez extratos aquosos sobre o desenvolvimento in vitro de fungos fitopatogênicos. Foram conduzidos seis ensaios experimentais em delineamento inteiramente casualizado, com 11 tratamentos e 10 repetições para cada ensaio. Os tratamentos constaram dos extratos bruto aquosos de alho, arruda, canela, cravo-da-índia, cavalinha, eucalipto, hortelã, jabuticaba, melão de são caetano e nim na concentração de 20%, mais a testemunha (somente BDA. Os ensaios foram realizados com os fungos Aspergillus sp., Penicillium sp., Cercosporakikuchii, Colletotrichum sp., Fusarium solani e Phomopsis sp. Os extratos foram filtrados em papel wathman nº 1, colocados em banho maria a 65ºC, durante 1 hora, incorporados em meio BDA e após vertido em placas de Petri, transferiu-se discos de micélio dos patógenos (0,3 cm de diâmetro. Foi analisado o crescimento micelial da colônia, a porcentagem de inibição e a taxa de crescimento dos fungos. Observou-se que os meios de cultura contendo os extratos de cravo-da-índia, alho e canela apresentaram maior atividade antifúngica sobre os fitopatógenos, quando comparados aos demais extratos utilizados, destacando o extrato de cravo-da-índia, que inibiu completamente o desenvolvimento de todos os fitopatógenos testados.

  5. Enteropatógenos de importancia en salud pública

    Directory of Open Access Journals (Sweden)

    Maribel Riveros

    Full Text Available La diarrea continúa siendo la tercera causa de muerte en niños menores de 5 años, pese a los avances recientes en el manejo y prevención de esta enfermedad. Es causada por múltiples patógenos, sin embargo, la prevalencia de cada uno varía según el grupo de edad, la zona geográfica y el escenario donde se registran los casos (comunitario vs hospitalario. Los patógenos de mayor relevancia en salud pública son aquellos asociados con mayor carga de enfermedad, severidad, complicaciones y mortalidad. En nuestro medio, el norovirus, Campylobacter y las E. coli diarrogénicas, son los patógenos más prevalentes a nivel comunitario en niños. En este artículo se revisa la epidemiología local y las potenciales áreas de desarrollo en cinco patógenos seleccionados: rotavirus, norovirus, E. coli productora de toxina Shiga (STEC, Shigella y Salmonella. De estos, el rotavirus es el más importante en la población pediátrica y el principal responsable de la mortalidad infantil por diarrea. La introducción de la vacunación contra rotavirus en nuestro país tendrá un importante impacto en la carga de enfermedad y la mortalidad por diarrea. Sin embargo, se requieren estudios de vigilancia para determinar el impacto de la vacunación y el cambio en la epidemiología de la diarrea en el Perú luego de la introducción de nuevas vacunas, así como la vigilancia de las tasas de resistencia antibiótica para las bacterias de importancia clínica.

  6. Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

    Science.gov (United States)

    Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2015-02-01

    The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Development of Family-Based Dietary Self-Management Support Program on Dietary Behaviors in Patients with Type 2 Diabetes Mellitus in Indonesia: A Literature Review

    Directory of Open Access Journals (Sweden)

    Aklima Aklima

    2012-08-01

    -solving strategies, and (5 goal-setting and action planning by assisting the patient to write the goals and action plan on a specially prepared form. All of these sessions would involve the patient‟s family. Follow-up visits may be needed to evaluate the dietary behaviors of patients. Conclusion: The collaboration of patients, family and health care professionals can have a positive impact on the dietary self-management behaviors of patients with T2DM. Further study is needed, as there is a growing awareness of the important role in diabetes management of integrating family support into routine diabetes management. Key words: Type 2 diabetes mellitus, dietary behaviors, self-management, and family support.

  8. Enteógenos e Inteligência Existencial: Plantas Mestres como Instrumentos Cognitivos

    Directory of Open Access Journals (Sweden)

    Kenneth Tupper

    2012-09-01

    Full Text Available DOI: 10.12957/periferia.2011.3946 A partir de recentes mudanças nas legislações em relação às drogasem diferentes países, investiguei o potencial dos enteógenos (i.e.,plantas psicoativas usadas como sacramentos espirituais comoinstrumentos para favorecer a inteligência existencial. PlantasMestres das Américas como a ayahuasca, os cogumelos depsilocibina, o peiote e o soma indo-ariano da Eurásia, são alguns dosexemplos de enteógenos que foram e continuam a ser utilizados, nopassado e no presente. Todas estas plantas foram reverenciadas porpessoas e culturas diferentes como instrumentos cognitivos quepromovem um mais rico entendimento cosmológico do mundo. Utilizoa teoria das múltiplas inteligências revisada por Gardner (1999 e suaformulação de uma inteligência “existencial” como uma lente teóricaatravés da qual se deve considerar as possibilidades cognitivas dosenteógenos e explorar potenciais caminhos na Educação.

  9. Board composition and performance in Spanish non-listed family firms: The influence of type of directors and CEO duality

    Directory of Open Access Journals (Sweden)

    Mª Katiuska Cabrera-Suárez

    2015-10-01

    Full Text Available This study analyzes the effect that certain characteristics of board of directors in Spanish non-listed family firms have on performance. The results of a hierarchical regression analysis on a database of 544 firms show a negative effect of a higher proportion of executive directors and a positive effect of CEO duality. No effects were found in relation to the diversity of family directors (executive or non-executive. In relation to the effect of outside boards, the influence on performance is negative except when this variable was considered in interaction with CEO duality. In this case, the effect on performance was positive.

  10. Erythrocyte fatty acid composition and insulin sensitivity in daughters of Type 2 diabetic patients and women with no family history of diabetes.

    Science.gov (United States)

    Ntali, G; Koutsari, C; Karakike, K; Makras, P; Skopouli, F; Mc Milan, M; Slater, C; Higgins, S; Zampelas, A; Malkova, D

    2010-05-01

    There is evidence that the impact of environmental factors on insulin sensitivity is modified by the presence of family history of diabetes. To compare the association between the erythrocyte phospholipid fatty acid composition (a biomarker of dietary fatty acids) and insulin sensitivity in daughters of Type 2 diabetic patients with the corresponding association in women without family history of diabetes. Eighteen offspring of Type 2 diabetic patients [age 30+/-6.5 yr; body mass index (BMI) 22.2+/-2.5 kg/m2; body fat 31.8+/-5.1%] and 18 matched women (age 30.1+/-6.8 yr; BMI 22.2+/-1.8 kg/m2; body fat 32.2+/-6.0%) participated in the study. Insulin Sensitivity Index (ISI)-Matsuda tended to be lower (p=0.06) in the Offspring than the control group. Weight proportions of erythrocyte phospholipid saturated (SFA), polyunsaturated (PUFA), and monounsaturated fatty acids (MUFA) were similar between the two groups. In the offspring, erythrocyte total SFA were negatively correlated with ISI-Matsuda [r=-0.47, pcomposition and insulin sensitivity are distinct between daughters of Type 2 diabetic patients and women without family history of diabetes.

  11. Comparing the capitalisation benefits of light-rail transit and overlay zoning for single-family houses and condos by neighbourhood type in metropolitan Phoenix, Arizona.

    Science.gov (United States)

    Atkinson-Palombo, Carol

    2010-01-01

    Light rail transit (LRT) is increasingly accompanied by overlay zoning which specifies the density and type of future development to encourage landscapes conducive to transit use. Neighbourhood type (based on land use mix) is used to partition data and investigate how pre-existing land use, treatment with a park-and-ride (PAR) versus walk-and-ride (WAR) station and overlay zoning interrelate. Hedonic models estimate capitalisation effects of LRT-related accessibility and overlay zoning on single-family houses and condos in different neighbourhoods for the system in metropolitan Phoenix, Arizona. Impacts differ by housing and neighbourhood type. Amenity-dominated mixed-use neighbourhoods-predominantly WAR communities-experience premiums of 6 per cent for single-family houses and over 20 per cent for condos, the latter boosted an additional 37 per cent by overlay zoning. Residential neighbourhoods-predominantly PAR communities-experience no capitalisation benefits for single-family houses and a discount for condos. The results suggest that land use mix is an important variable to select comparable neighbourhoods.

  12. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans

    DEFF Research Database (Denmark)

    Stattin, Eva-Lena; Wiklund, Fredrik; Lindblom, Karin

    2010-01-01

    proteins in the cartilage extracellular matrix. Binding studies with recombinant mutated and wild-type G3 proteins showed loss of fibulin-1, fibulin-2, and tenascin-R interactions for the V2303M protein. Mass spectrometric analyses of aggrecan purified from patient cartilage verified that V2303M aggrecan...... is produced and present in the tissue. Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo....

  13. Effect of Cadmium Contaminants Against Absorption of Cadmium and the Results of 3 Types of Families Brassicaceae Vegetables on Peat Soil

    OpenAIRE

    Panthera Boy, Godefridus Delanova; Suswati, Denah; Susana, Rini

    2014-01-01

    Cadmium (Cd) is a heavy metal that is often the pollutants on agricultural land. This research aimed to study the absorption of cadmium (Cd) and yield of the three kinds family brassicaceae grown in peat media contaminated with cadmium (Cd). The method used in this research was Split Plot Design. As the main plot are 3 types of vegetables consist of 3 types of mustards: mustard greens, Chinese cabbage, and Chinese broccoli. Sub plot the dose cadmium treatment consisting of c0 (no contaminant)...

  14. Bloqueo aurículo-ventricular familiar progresivo tipo I: descripción clínica de una familia Progressive familial atrio-ventricular block type I: clinical description of a family

    Directory of Open Access Journals (Sweden)

    Guillermo Mora

    2011-10-01

    Full Text Available Se presenta el caso de una familia con bloqueo aurículo-ventricular, que compromete varias generaciones, con herencia mendeliana autosómica dominante, que afecta de manera progresiva el sistema de conducción cardiaco llevando a síncope y muerte súbita en edades tempranas. Esta entidad corresponde al bloqueo familiar cardiaco progresivo tipo I, descrito principalmente en Suráfrica. El tratamiento con marcapaso definitivo fue exitoso.We present the case of a family with atrio-ventricular block that involves several generations, with dominant autosomal mendelian inheritance that progressively affects the cardiac conduction system leading to syncope and sudden death in early life. This entity corresponds to progressive familial atrio-ventricular block type I, described mainly in South Africa . Treatment with permanent pacemaker therapy was successful.

  15. Type 2 diabetes in Mauritania: prevalence of the undiagnosed diabetes, influence of family history and maternal effect.

    Science.gov (United States)

    Meiloud, Ghlana; Arfa, Imen; Kefi, Rym; Abdelhamid, Isselmou; Veten, Fatimetou; Lasram, Khaled; Ben Halim, Nizar; Sidi Mhamed, Abdallahi; Samb, Abdoulaye; Abdelhak, Sonia; Houmeida, Ahmed Ould

    2013-04-01

    We estimated the prevalence of undiagnosed diabetes, analyzed the influence of family history on the occurrence of T2D and evaluated its aggregation pattern in the Mauritanian population. The prevalence of unknown diabetes was obtained using data compiled from 1278 Mauritanian adults applying a questionnaire and fasting serum glucose tests. Detailed family history of diabetes and clinical characteristics were gathered from 421 T2D patients. The prevalence of undiagnosed diabetes was 4.7 ± 1.2% in the studied population (3.1% in men and 6.4% in women). 27% of T2D patients reported at least one relative with diabetes. Association between family history and diabetes was higher among first degree compared to second degree relatives (p=0.003). We observed more probands with an affected mother than those who have a father with diabetes (p = 0.002), suggesting a preferential maternal effect which did not extend to second degree relatives. These results show that the prevalence of diabetes in the Mauritanian population could be higher than currently thought. Family history screening may be used in the management of this condition in Mauritania. Copyright © 2012 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.

  16. Efeito dos Estrógenos Conjugados e da Medroxiprogesterona sobre a Mama: Estudo Experimental

    Directory of Open Access Journals (Sweden)

    Santos Luciana de Oliveira Marques dos

    2001-01-01

    Full Text Available Objetivo: avaliar no tecido mamário a influência de drogas empregadas na terapia de reposição hormonal sobre a proliferação celular, a quantidade de colágeno e de fibras elásticas e as alterações histológicas gerais do parênquima. Método: utilizaram-se 61 ratas Wistar-UFPR, adultas, divididas em 5 grupos. O grupo padrão (n=12 representou o perfil hormonal ovariano normal. As 49 ratas restantes foram ooforectomizadas e a partir do 96º dia P.O. receberam a medicação designada para cada grupo durante 30 dias. O grupo EEC (n=13 recebeu 50 mg/dia de estrógenos eqüinos conjugados; o grupo MPA (n=12, 2,0 mg/dia de acetato de medroxiprogesterona; o grupo EEC + MPA (n=12, ambos, e o grupo AD (n=12, água destilada. No 31º dia de medicação todos os animais foram sacrificados e as mamas inguinais foram retiradas para análise histológica. A avaliação da proliferação celular nos ductos e ácinos foi realizada por método imuno-histoquímico utilizando-se anticorpo anti-PCNA. Utilizando-se a coloração de Sirius-Red quantificou-se o colágeno maduro (tipo I e imaturo (tipo III. A coloração de Weigert avaliou a formação de fibras elásticas. A análise anatomopatológica foi realizada em coloração de hematoxilina-eosina, determinando-se o número de ácinos por ducto terminal, número de ductos por campo, presença de secreção intraductal e a intensidade de vacuolização intracitoplasmática. Resultados: o grupo EEC + MPA apresentou menor porcentagem de células ductais em proliferação (46,1% (p<0,0001. Também mostrou maior taxa de proliferação das células acinares (66,3%, sendo semelhante ao grupo MPA (p=0,075 mas diferente dos demais grupos (p<0,004. No grupo EEC encontrou-se maior quantidade de colágeno imaturo (33,6% (p<0,01 e o grupo MPA apresentou mais elevada concentração de fibras elásticas (11,7% (p<0,0001. Os grupos EEC + MPA e MPA apresentaram hiperplasia acinar secretora, sendo intensa (91,7% no grupo

  17. Presence of inulin-type fructo-oligosaccharides and shift from raffinose family oligosaccharide to fructan metabolism in leaves of boxtree (Buxus sempervirens

    Directory of Open Access Journals (Sweden)

    Wim eVan den Ende

    2016-03-01

    Full Text Available from raffinose family oligosaccharide to fructan metabolism in leaves of boxtree (Buxus sempervirens Wim Van den Ende1,* Marlies Coopman1, Rudy Vergauwen1, André Van Laere11 KU Leuven, Laboratory of Molecular Plant Biology, Institute of Botany and Microbiology, Kasteelpark Arenberg 31, B-3001 Leuven, Belgium* Correspondence: Wim Van den Ende, Laboratory of Molecular Plant Biology,Institute of Botany and Microbiology, Kasteelpark Arenberg 31, B-3001 Leuven, Belgium tel +32 16321952; fax +32 16321967;Wim.vandenende@bio.kuleuven.beKeywords: inulin, oligosaccharides, stress, RFO, fructanAbstractFructans are known to occur in 15% of flowering plants and their accumulation is often associated with stress responses. Typically, particular fructan types occur within particular plant families. The family of the Buxaceae, harbouring Pachysandra terminalis, an accumulator of graminan- and levan-type fructans, also harbours boxtree (Buxus sempervirens, a cold and drought tolerant species. Surprisingly, boxtree leaves do not accumulate the expected graminan- and levan-type fructans but small inulin fructo-oligosaccharides (FOS: 1-kestotriose and nystose and raffinose family oligosaccharides (RFO: raffinose and stachyose instead. The seasonal variation in concentrations of glucose, fructose, sucrose, FOS and RFO were followed. Raffinose and stachyose peaked during the winter months, while FOS peaked at a very narrow time-interval in spring, immediately preceded by a prominent sucrose accumulation. Sucrose may function as a reserve carbohydrate in winter and early spring leaves. The switch from RFO to fructan metabolism in spring strongly suggests that fructan and RFO fulfil distinct roles in boxtree leaves. RFO may play a key role in the cold acclimation of winter leaves while temporal fructan biosynthesis in spring might increase sink strength to sustain the formation of new shoots.

  18. Parenting style and family type, but not child temperament, are associated with television viewing time in children at two years of age.

    Science.gov (United States)

    Howe, Anna S; Heath, Anne-Louise M; Lawrence, Julie; Galland, Barbara C; Gray, Andrew R; Taylor, Barry J; Sayers, Rachel; Taylor, Rachael W

    2017-01-01

    Despite the American Academy of Pediatrics (AAP) recommending that electronic media be avoided in children under two years of age, screen use is common in infants and toddlers. The aims of this study were to determine how parenting style, infant temperament, and family type are associated with television viewing in two-year-old children. Participants were from the Prevention of Overweight in Infancy (POI) randomized controlled trial (n = 802) (Dunedin, New Zealand). Demographic information was collected at baseline (late pregnancy), and television and other screen time assessed by questionnaire at 24 months of age. Parenting style (Parenting Practices Questionnaire), infant temperament (Colorado Childhood Temperament Inventory), and family type (7 categories) were reported by both parents. Data were available for 487 participants (61% of the original participants). Median television viewing was relatively low at 21 minutes per day, or 30 minutes in those watching television (82%). Children who watched television played with mobile phones (12% of children) or iPads/tablets (22% of children) more frequently than children who did not (6% of children). In terms of parenting style, children of more authoritarian mothers (β = 17, 95% CI: 6-27 minutes), more authoritarian partners (β = 14, 95% CI: 2-26 minutes), or more permissive mothers (β = 10, 95% CI: 3-17 minutes) watched significantly more television. No significant relationships were observed between child temperament and time watching television after adjustment for confounding variables. Children from "active" families (as rated by partners) watched 29 minutes less television each day (P = 0.002). Parenting style and family type were associated with television viewing time in young children, whereas child temperament was not.

  19. Evolution of the P-type II ATPase gene family in the fungi and presence of structural genomic changes among isolates of Glomus intraradices

    Directory of Open Access Journals (Sweden)

    Sanders Ian R

    2006-03-01

    Full Text Available Abstract Background The P-type II ATPase gene family encodes proteins with an important role in adaptation of the cell to variation in external K+, Ca2+ and Na2+ concentrations. The presence of P-type II gene subfamilies that are specific for certain kingdoms has been reported but was sometimes contradicted by discovery of previously unknown homologous sequences in newly sequenced genomes. Members of this gene family have been sampled in all of the fungal phyla except the arbuscular mycorrhizal fungi (AMF; phylum Glomeromycota, which are known to play a key-role in terrestrial ecosystems and to be genetically highly variable within populations. Here we used highly degenerate primers on AMF genomic DNA to increase the sampling of fungal P-Type II ATPases and to test previous predictions about their evolution. In parallel, homologous sequences of the P-type II ATPases have been used to determine the nature and amount of polymorphism that is present at these loci among isolates of Glomus intraradices harvested from the same field. Results In this study, four P-type II ATPase sub-families have been isolated from three AMF species. We show that, contrary to previous predictions, P-type IIC ATPases are present in all basal fungal taxa. Additionally, P-Type IIE ATPases should no longer be considered as exclusive to the Ascomycota and the Basidiomycota, since we also demonstrate their presence in the Zygomycota. Finally, a comparison of homologous sequences encoding P-type IID ATPases showed unexpectedly that indel mutations among coding regions, as well as specific gene duplications occur among AMF individuals within the same field. Conclusion On the basis of these results we suggest that the diversification of P-Type IIC and E ATPases followed the diversification of the extant fungal phyla with independent events of gene gains and losses. Consistent with recent findings on the human genome, but at a much smaller geographic scale, we provided evidence

  20. Changing Utilization of Noninvasive Diagnostic Imaging Over 2 Decades: An Examination Family-Focused Analysis of Medicare Claims Using the Neiman Imaging Types of Service Categorization System.

    Science.gov (United States)

    Rosman, David A; Duszak, Richard; Wang, Wenyi; Hughes, Danny R; Rosenkrantz, Andrew B

    2018-02-01

    The objective of our study was to use a new modality and body region categorization system to assess changing utilization of noninvasive diagnostic imaging in the Medicare fee-for-service population over a recent 20-year period (1994-2013). All Medicare Part B Physician Fee Schedule services billed between 1994 and 2013 were identified using Physician/Supplier Procedure Summary master files. Billed codes for diagnostic imaging were classified using the Neiman Imaging Types of Service (NITOS) coding system by both modality and body region. Utilization rates per 1000 beneficiaries were calculated for families of services. Among all diagnostic imaging modalities, growth was greatest for MRI (+312%) and CT (+151%) and was lower for ultrasound, nuclear medicine, and radiography and fluoroscopy (range, +1% to +31%). Among body regions, service growth was greatest for brain (+126%) and spine (+74%) imaging; showed milder growth (range, +18% to +67%) for imaging of the head and neck, breast, abdomen and pelvis, and extremity; and showed slight declines (range, -2% to -7%) for cardiac and chest imaging overall. The following specific imaging service families showed massive (> +100%) growth: cardiac CT, cardiac MRI, and breast MRI. NITOS categorization permits identification of temporal shifts in noninvasive diagnostic imaging by specific modality- and region-focused families, providing a granular understanding and reproducible analysis of global changes in imaging overall. Service family-level perspectives may help inform ongoing policy efforts to optimize imaging utilization and appropriateness.

  1. The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene

    Energy Technology Data Exchange (ETDEWEB)

    Slaugenhaupt, S.A. [Massachusetts General Hospital, Boston, MA (United States)]|[Harvard Medical School, Boston, MA (United States); Liebert, C.B.; Lucente, D.E. [Massachusetts General Hospital, Boston, MA (United States)] [and others

    1995-02-10

    The neurotrophic tyrosine kinase receptor type 2 (NTRK2) gene is a member of the trk family of tyrosine protein kinases, which encode receptors for the nerve growth factor-related proteins known as neurotrophins. The neurotrophins and their receptors have long been considered candidate genes for familial dysautonomia (FD), a hereditary sensory neuropathy resulting from the congenital loss of both sensory and autonomic neurons. The DYS gene has recently been mapped to human chromosome 9q31-q33, and therefore we set out to determine the chromosomal localization of the candidate gene NTRK2. A mouse trkB probe was hybridized to both somatic cell hybrids containing human chromosome 9 and a human chromosome 9 flow-sorted cosmid library. The human homologue of trkB, NTRK2, was assigned to chromosome 9. To localize the NTRK2 gene further, a dinucleotide repeat polymorphism was identified within a cosmid that contains NTRK2 exon sequences. This marker was genotyped in the CEPH reference pedigrees and places the NTRK2 gene near D9S1 on the proximal long arm of human chromosome 9. The NTRK2 gene is located approximately 22 cm proximal to DYS and shows several recombinants in disease families. Therefore, the NTRK2 gene can now be excluded as a candidate gene for familial dysautonomia. 18 refs., 1 fig.

  2. Continuity and change in glycemic control trajectories from adolescence to emerging adulthood: relationships with family climate and self-concept in type 1 diabetes.

    Science.gov (United States)

    Luyckx, Koen; Seiffge-Krenke, Inge

    2009-05-01

    To determine developmental classes of glycemic control in young people with type 1 diabetes throughout adolescence and emerging adulthood and assess relationships with general family climate and self-concept. In an eight-wave longitudinal study, 72 individuals (37 females) completed questionnaires assessing family climate (at times 1-4) and self-concept (at times 1-4 and 6). Times 1-4 covered adolescence (mean ages were 14-17 years, respectively); times 5-8 covered emerging adulthood (mean ages were 21-25 years, respectively). At each time point, patients visited their physicians to determine A1C values, and questionnaires were sent to the physicians to obtain these values. Latent class growth analysis was used to identify developmental classes of glycemic control. Latent class growth analysis favored a three-class solution, consisting of optimal control (n = 10), moderate control (n = 51), and deteriorating control (n = 11). From time 3 on and especially during emerging adulthood, mean A1C levels were substantially different among the classes. Additional ANOVAs indicated that at times 1, 2, and 4, the optimal control class was characterized by the most optimal family climate, whereas at times 3, 4, and 6, the deteriorating control class was characterized by the lowest score on positive self-concept. From late adolescence on, a multiformity of glycemic control trajectories emerged, which became more diversified throughout emerging adulthood. Family climate and self-concept in mid-to-late adolescence served as psychosocial markers of these developmental classes.

  3. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

    Science.gov (United States)

    Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

    2016-10-01

    Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    Energy Technology Data Exchange (ETDEWEB)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis [Papageorgiou Hospital, Radiology Department, Thessaloniki (Greece); Arvaniti, Maria [Genimatas Hospital, Radiology Department, Thessaloniki (Greece)

    2009-10-15

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  5. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    International Nuclear Information System (INIS)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis; Arvaniti, Maria

    2009-01-01

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  6. A simple and rapid micromethod for genomic DNA extraction from jugal epithelial cells. Application to human lymphocyte antigen typing in one large family of atopic/asthmatic probands.

    Science.gov (United States)

    Aron, Y; Swierczewski, E; Lockhart, A

    1994-10-01

    We describe a rapid and reliable micromethod for DNA isolation from buccal epithelial cells from the interior mouth mucosa. This convenient, noninvasive method could be applied to genetic typing in a small number of cells (about 2000 cells per cheek). We have shown that DNA released by this method is suitable for further amplification by polymerase chain reaction (PCR). Using this protocol, coupled with the PCR-RFLP (restriction fragment length polymorphism) method, we analyzed the allelic sequence diversity of the human lymphocyte antigen (HLA) class II genes in an extended family of 33 persons containing 14 asthmatic or atopic members. Six of eight DQA1 alleles, and 11 DQB1, 20 DPB1, and 10 DR haplotypes could be identified in a single DNA sample. Our results suggest that the DR53 group haplotype is frequently associated with allergic asthma and atopy. The micromethod described here may be useful in genetic epidemiology, especially in family studies involving small children.

  7. Risk factors for diabetes, but not for cardiovascular disease, are associated with family history of Type 2 diabetes in subjects from central Mexico.

    Science.gov (United States)

    Zamora-Ginez, Irma; Pérez-Fuentes, Ricardo; Baez-Duarte, Blanca G; Revilla-Monsalve, Cristina; Brambila, Eduardo

    2012-03-01

    Independent of obesity, family history of type 2 diabetes mellitus (FHT2DM) is another important risk factor for developing diabetes. To establish the association among FHT2DM, risk factors for diabetes and cardiovascular disease in subjects from central Mexico. Clinical and biochemical studies were performed in 383 first-degree relatives of patients with type 2 diabetes and 270 subjects unrelated to patients with type 2 diabetes-all subjects were from the city of Puebla in central Mexico. Logistic regressions were used to assess the association between FHT2DM and metabolic parameters. Cardiovascular risk was classified by dyslipidemia and the Framingham Risk Score (FRS). FHT2DM was associated with risk factors for diabetes, such as increased fasting insulin levels (OR = 1.731, 95% CI = 1.041-2.877), decreased insulin sensitivity (OR = 1.951, 95% CI = 1.236-3.080) and pre-diabetes (OR = 1.63, 95% CI = 1.14-2.33). FHT2DH was not associated with risk factors for cardiovascular disease, such as dyslipidemia (OR = 1.12, 95% CI = 0.70-1.79) and FRS (OR = 0.74, 95% CI = 0.40-1.36) when adjusted for gender, age, smoking and obesity. Diabetic risk factors, but not cardiovascular disease risk factors, are associated with a positive family history of diabetes in subjects from central Mexico, independent of the presence of obesity.

  8. A comparative analysis of pollinator type and pollen ornamentation in the Araceae and the Arecaceae, two unrelated families of the monocots

    Directory of Open Access Journals (Sweden)

    Anstett Marie-Charlotte

    2009-07-01

    Full Text Available Abstract Background The high diversity of ornamentation type in pollen grains of angiosperms has often been suggested to be linked to diversity in pollination systems. It is commonly stated that smooth pollen grains are associated with wind or water pollination while sculptured pollen grains are associated with biotic pollination. We tested the statistical significance of an association between pollen ornamentation and pollination system in two families of the monocotyledons, the Araceae and the Arecaceae, taking into account the phylogenetic framework. Findings Character optimization was carried out with the Maximum Parsimony method and two different methods of comparative analysis were used: the Concentrated-Change test and the Discrete method. The ancestral ornamentation in Araceae is foveolate/reticulate. It is probably the same in Arecaceae. The ancestral flowers of Araceae were pollinated by beetles while ancestral pollination in Arecaceae is equivocal. A correlation between ornamentation type and pollination was highlighted in Araceae although the results slightly differ depending on the method and the options chosen for performing the analyses. No correlation was found in palms. Conclusion In this study, we show that the relationships between the ornamentation type and the pollination system depend on the family and hence vary among taxonomic groups. We also show that the method chosen may strongly influence the results.

  9. Contaminación acústica por grupos electrógenos

    Directory of Open Access Journals (Sweden)

    Yanexy Cepero-Aguilera

    2009-05-01

    Full Text Available El trabajo tiene como tema el impacto ambiental por ruido de grupos electrógenos (GE. Se muestran diferentes definiciones y conceptos referidos a la explotación de los GE y las consecuencias que puede provocar a las personas que permanezcan cerca de ellos durante su funcionamiento. Los grupos electrógenos son además de generadores de energía, generadores de ruido y por tanto contribuyen a la contaminación acústica del lugar donde estén situados. En el documento se aborda la importancia del correcto uso y selección de los protectores auditivos para aquellas personas que trabajen directamente en las baterías de grupos electrógenos, así como algunas formas de atenuar el ruido. También se caracteriza la emisión sonora de estos a partir de estudios realizados.This paper concerns with the environmental damage due to noise emission introduced by Engine Generator Sets. Definitions and concepts about Engine Generator operation are shown as well as the consequences over the personnel who stand near the Engine Generators during their operation. Obviously, such kind of machines generates energy but they also generate noise which contaminates the environment around them. The paper states how important are the right selection and use of noise protection devices for those whose main job is to operate engine generator sets. Some methods for noise damping are also shown. Finally, some case studies are presented in order to describe the noise emission registered in the real world.

  10. Fraccionamiento de nitrógeno en frijol ( phaseolus vulgaris l. en el valle de san juan

    Directory of Open Access Journals (Sweden)

    Juan Cedano

    2000-01-01

    Full Text Available Fraccionamiento de nitrógeno en frijol (Phaseolus vulgaris L. en el valle de San Juan. Se realizó un estudio para determinar el efecto del fraccionamiento de la fertilización nitrogenada y el momento adecuado para la aplicación de nitrógeno en el cultivo de frijol (Phaseolus vulgaris L. en cinco localidades del Valle de San Juan, R. D. Los experimentos fueron establecidos del 5 al 14 de noviembre (1997 , se utilizó un diseño de bloques completamente al azar y nueve tratamientos en cada localidad, encontrándose que en los terrenos con altos niveles de nitrógeno no hubo respuesta a la aplicación de nitrógeno ni al fraccionamiento de este nutrimento; mientras que en los suelos con deficiencia en nitrógeno si hubo respuesta a la fertilización nitrogenada encontrándose diferencia estadística significativa a la aplicación y al momento de aplicación del fertilizante. Entre las localidades hubo diferencia estadística significativa (P>0.05, mientras que no se encontró interacción entre los tratamientos y las localidades

  11. Efecto de los estrógenos equinos conjugados sobre el envejecimiento de la piel de la cara en mujeres posmenopáusicas

    Directory of Open Access Journals (Sweden)

    Luis Alfonso Correa

    2008-02-01

    Full Text Available

     

    family: MyriadPro-BoldCond">OBJETIVOS: family: BelweBT-Light">verificar si la aplicación tópica de 1 gramo diario de estrógenos equinos conjugados, durante 6 meses, en la piel de la cara, mejora las características clínicas e histopatológicas en mujeres posmenopáusicas entre 45 y 65 años de edad y a la vez, su satisfacción estética personal.

    family: BelweBT-Light">

    family: MyriadPro-BoldCond">MÉTODOS: family: BelweBT-Light">se efectuó un ensayo clínico de intervención, controlado con la misma paciente (antes y después, de la aplicación en la cara de 1 gramo diario de estrógenos equinos conjugados, durante un período de seis meses. Se estudiaron 16 pacientes que cumplieron con los criterios de inclusión y a quienes se les tomaron biopsias antes y después del empleo del medicamento, en las que se evaluaron el grosor epidérmico y dérmico y el grado de elastosis solar. Además se les hizo una encuesta de satisfacción antes y después del estudio.

    family: BelweBT-Light">

    family: MyriadPro-BoldCond">RESULTADOS: family: BelweBT-Light">de las 16 pacientes evaluadas, 15 tenían en las biopsias previas elastosis de grado I y en solo una era de grado II. Los resultados de las biopsias posteriores al tratamiento no evidenciaron ningún cambio en el estadiaje final; sin embargo, se observaron mejoría en el grosor y mayor apetencia tintorial de las fibras de colágeno, sin cambios en la ectasia vascular. La escala de satisfacción global estética de las pacientes

  12. Control de patógenos de origen telúrico presentes en los cultivos

    OpenAIRE

    Cara Garcia, Miguel de; Diánez Martínez, Fernando; Palmero Llamas, Daniel; Tello Marquina, Julio

    2004-01-01

    Con patógenos de origen telúrico o edáfico nos referimos a aquéllos establecidos en plantaciones en suelo natural, suelo modificado o en cultivos sobre sustratos. Se pueden clasificar según afecten a la raíz, cuello o base del tallo, siendo indiferentes a la presencia de agua libre o actuando únicamente en condiciones de encharcamiento, o afectar al sistema vascular, entre los que se encuentran el conocido Verticilium dahliae o la compleja especie denominada Fusarium.

  13. Colágeno asimilable. Fuente de prevención de enfermedades osteoarticuladas

    OpenAIRE

    Parra Parra, Yolanda; Quesada Martínez, María Inmaculada; Pérez Collado, Elisa María

    2015-01-01

    Cartel presentado en la Segunda Conferencia Internacional de Comunicación en Salud, celebrada el 23 de octubre de 2015 en la Universidad Carlos III de Madrid Introducción: El colágeno es la proteína más abundante de nuestro cuerpo humano y uno de sus componentes esencial de articulaciones, cartílago, ligamento, tendones, huesos, piel. Su especial estructura lo hacen único, presenta una estructura fibrosa, que aporta gran resistencia y flexibilidad a los tejidos de los que forma parte. Cu...

  14. Vehículos de hidrógeno. Perspectivas de futuro.

    OpenAIRE

    Vicens Garcia, Gabriel

    2011-01-01

    En un contexto de crisis ambiental y agotamiento de los recursos energéticos convencionales el modelo energético actual, basado en los combustibles fósiles, queda obsoleto. Para el sector del transporte, está tomando forma la solución de vehículos alimentados con hidrógeno. Al tratar el tema se hace evidente la dependencia entre los sectores energéticos y el del transporte. Las soluciones se deben desarrollar de manera conjunta para ambos. Esta tesina analiza la situación actual de estos ...

  15. Desarrollo endógeno articulado con la red de cooperación empresarial internacional

    OpenAIRE

    González Alvarado, Tania Elena

    2006-01-01

    A través del presente proyecto de investigación se pretende encontrar respuesta a las siguientes preguntas: ¿de qué manera las PYME mexicanas agroindustriales que participan en las redes de cooperación empresarial internacionales están actuando como instrumentos de desarrollo endógeno? ¿Qué ventaja representa la red de cooperación empresarial internacional para los sistemas productivos locales? ¿Cuál es la medida que se requiere para que la PYME mexicana agroindustrial no sólo se internacion...

  16. Técnicas inmunohistoquímicas para la identificación de antígenos fimbriales de E. coli enteropatógeno Immunohistochemical methods for the identification of enteropathogenic E. coli fimbriae

    OpenAIRE

    A.M. CANAL; V. CUBILLOS G.; J. ZAMORA; G. REINHARDT; E. PAREDES; R. ILDEFONSO; A. ALBERDI; P. MACÍAS

    1999-01-01

    Con el propósito de evaluar dos técnicas inmunohistoquímicas (IHQ), Inmunofluorescencia Indirecta (IFI) y Streptavidina-Biotina-Peroxidasa (LSAB) para la identificación de antígenos fimbriales de E. coli y su correlación con el Test de Aglutinación, se realizó una inoculación experimental con cepas enteropatógenas de E. coli que expresaban antígenos fimbriales F4, F5, F6 y F41 en cerdos neonatos, los cuales no ingierieron calostro y se mantuvieron aislados de sus madres. El antígeno F4 se dis...

  17. Unveiling the Rosetta Stone of syllids: redescription and neotype designation of Syllis monilaris Savigny in Lamarck, 1818, type species of type genus of family Syllidae Grube, 1850 (Annelida).

    Science.gov (United States)

    Álvarez-Campos, Patricia; Gil, João; San Martín, Guillermo

    2015-11-11

    Syllis monilaris Savigny in Lamarck, 1818, the type species of the genus Syllis Savigny in Lamarck, 1818, is redescribed based on two specimens deposited in the Museum für Naturkunde Berlin (Germany). One specimen is designated as neotype, since the original type material is considered to be lost, and there is a necessity to stabilize the nomenclature of the group. The species is large sized, with long dorsal cirri on anterior segments, becoming short and fusiform from midbody, it has thick compound chaetae with short, unidentate blades, not fused to shafts. The lack of chaetae with fused shafts and blades contradicts the division of the genus Syllis into subgenera as proposed by Langerhans (1879), who considered the subgenus Syllis as having thick fused chaetae on midbody, in addition to compound chaetae, and the subgenus Typosyllis with only compound chaetae. A discussion about the systematics of the genus is included, and according to this new data, Typosyllis is a junior synonymy of Syllis.

  18. Orosomucoid typing of apes (family Pongidae) by isoelectric focusing: Among primates do only humans have two functional orosomucoid loci

    Energy Technology Data Exchange (ETDEWEB)

    Yuasa, I. (Tottori University School of Medicine, Yonago (Japan)); Umetsu, K. (Yamagata University School of Medicine (Japan)); Udono, T.; Sasaoka, S. (Primate Center, Misumi (Japan)); Suzuki, R.; Shotake, T.; Kawamoto, Y.; Takenaka, O.; Nozawa, K. (Kyoto University, Inuyama (Japan))

    1991-12-01

    It has been demonstrated that human orosomucoid (ORM) is controlled by more than one functional loci, while Macaca ORM is controlled by one locus. To examine the time when the ORM gene was duplicated in the evolution of primates, plasma samples from 118 apes (family Pongidae) belonging to 4 genera and 12 species were investigated for ORM polymorphism using isoelectric focusing followed by immunoprinting. The band patterns of ORM in the subfamily Ponginae showed quantitatively different products as in humans. A pedigree study of common chimpanzees supported the two-locus model for ORM. Gibbons (subfamily Hylobatinae) displayed highly variable band patterns, but the number of loci was not determined unequivocally. Thus, this study shows that duplication of the ORM gene in primates occurred either before or after the divergence of hylobatinae and Ponginae, consistent with a previous prediction from the molecular evolutionary rate of ORM.

  19. A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.

    Science.gov (United States)

    Sun, Aping; Liu, Xiangyi; Zheng, Mei; Sun, Qingli; Huang, Yu; Fan, Dongsheng

    2015-09-01

    To explore the clinical features of a novel glycyl-tRNA synthetase (GARS) gene mutation in a family with Charcot-Marie-Tooth disease type 2D (CMT2D). Exome capture with the next-generation sequencing technique was used to detect gene mutations. The mutations were verified by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique combined with DNA sequencing. In this pedigree, eight members were affected; seven males and one female. The affected members initially manifested with the onset of hand muscle weakness and atrophy in adolescence followed by gradual development of distal lower limb involvement and minor sensory involvement. Electrophysiological studies revealed that this disease mainly involves axonal damage. Genetic detection showed that all affected family members had a heterozygous missense mutation, c.999G>T (p.E333D), of the GARS gene. The c.999G>T mutation is a novel mutation of the GARS gene that has not been previously reported. The phenotype of this family is CMT2D, which is first reported in Chinese population.

  20. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

    NARCIS (Netherlands)

    Coenen, M.J.H.; Tieleman, A.A.; Schijvenaars, M.M.V.A.P.; Leferink, M.; Ranum, L.P.; Scheffer, H.; Engelen, B.G.M. van

    2011-01-01

    Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with muscle weakness and myotonia as main characteristics. The disease is caused by a repeat expansion in the zinc-finger protein 9 (ZNF9) gene on chromosome 3q21. Several reports show that patients from European ancestry share an

  1. Evaluación de diferentes aceros para la evolución de hidrógeno en KOH

    Directory of Open Access Journals (Sweden)

    Falk Michel Julke

    2014-05-01

    Full Text Available Se estudió el comportamiento electroquímico de los diferentes tipos de aceros comerciales de bajo costo (A36, 430 y 304 como electrodos para la obtención de hidrógeno. El propósito de este trabajo fue estudiar la evolución de hidrógeno, para lo cual se utilizaron técnicas electroquímicas como cronoamperometría y curvas voltamperométricas, en diferentes concentraciones de KOH (5% y 25% m/m. El acero inoxidable 304 en una concentración de 25%m/m tuvo el mejor desempeño, pues en estas condiciones el inicio de liberación de hidrógeno disminuyó y presentó el menor requerimiento de potencial para su uso como placa bipolar.

  2. Acumulación y concentración de nitrógeno, fosforo y potasio en Gypsophila paniculata L. cv. perfecta

    Directory of Open Access Journals (Sweden)

    Medina Gladys Adriana

    1999-12-01

    Full Text Available

    family: ">Sobre las necesidades nutricionales de G. paniculata L. bajo condiciones de invernadero en la Sabana de Bogotá, no existe suficiente información publicada. Por lo tanto, teniendo en cuenta la importancia de esta especie para el sector floricultor, el presente trabajo pretende determinar las concentraciones y la acumulación de nitrógeno, fosforo y potasio en todos los órganos de la planta a lo largo del ciclo de vida. De tal forma, que ello permita ampliar cl conocimiento bio1ogico de la especie y contribuir a la realizaci6n de ajustes en los programas de fertilización.

    family: "> 

    family: ">Palabras claves:family: "> Nutrición, macronutrientes, flores de corte.

    family: "> 

  3. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

    Science.gov (United States)

    Gale, Daniel P; Oygar, D Deren; Lin, Fujun; Oygar, P Derin; Khan, Nadia; Connor, Thomas M F; Lapsley, Marta; Maxwell, Patrick H; Neild, Guy H

    2016-11-01

    Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts. We used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses. We identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1. This mutation predicts truncation of the protein with disruption of the C-terminal part of the NC1 domain. We confirmed its presence in 20 family members, 17 with confirmed haematuria, 5 of whom also had stage 4 or 5 chronic kidney disease. Eleven family members exhibited kidney cysts (55% of those with the mutation), but muscle cramps or cerebral aneurysms were not observed and serum creatine kinase was normal in all individuals tested. Missense mutations of COL4A1 that encode the CB3 [IV] segment of the triple helical domain (exons 24 and 25) are associated with HANAC syndrome (hereditary angiopathy, nephropathy, aneurysms and cramps). Missense mutations of COL4A1 that disrupt the NC1 domain are associated with antenatal cerebral haemorrhage and porencephaly, but not kidney disease. Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the α1 chain of type IV collagen is important in the integrity of glomerular basement membrane in humans. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA.

  4. Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

    Science.gov (United States)

    Aharoni, Sharon; Barwick, Katy E S; Straussberg, Rachel; Harlalka, Gaurav V; Nevo, Yoram; Chioza, Barry A; McEntagart, Meriel M; Mimouni-Bloch, Aviva; Weedon, Michael; Crosby, Andrew H

    2016-11-16

    CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone.

  5. A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation. Report of a case

    International Nuclear Information System (INIS)

    Yonekawa, Hiroyuki; Sugitani, Iwao; Fujimoto, Yoshihide; Arai, Masami; Yamamoto, Noriko

    2007-01-01

    Since the majority of multiple endocrine neoplasia type 2A (MEN 2A) patients have missense mutations at codon 634 and those with the Cys630 RET genotype mutations are extremely rare, limited clinical information is available about this rare type. We report here three members of one Japanese MEN 2A family with the Cys630Tyr genotype. A 67-year-old woman presented a firm thyroid nodule, and preoperative examination revealed medullary thyroid carcinoma with primary hyperparathyroidism and no pheochromocytoma. At surgery, bilateral medullary thyroid carcinomas and parathyroid adenoma were found. No lymph node metastasis was identified. Computed tomography scans and laboratory examination of blood have shown no evidence of tumor recurrence and no abnormality of parathyroid function during the 4 years after surgery. A 40-year-old man, the proband's son, was shown to have the same RET mutation, underwent total thyroidectomy prophylactically, and only microscopic foci of medullary thyroid carcinoma were found. A 10-year-old boy, the proband's grandson also having the same RET mutation, showed normal basal serum calcitonin level and has been followed up conservatively. To our knowledge, 18 patients of 6 families with the Cys630 mutations have been reported so far. This is only the second reported case with primary hyperparathyroidism. RET 630 mutations might be associated with lower penetrance of primary hyperparathyoidism and pheochromocytoma. (author)

  6. Single nucleotide polymorphism-based molecular typing of M. leprae from multicase families of leprosy patients and their surroundings to understand the transmission of leprosy.

    Science.gov (United States)

    Turankar, R P; Lavania, M; Chaitanya, V S; Sengupta, U; Darlong, J; Darlong, F; Siva Sai, K S R; Jadhav, R S

    2014-03-01

    The exact mode of transmission of leprosy is not clearly understood; however, many studies have demonstrated active transmission of leprosy around a source case. Families of five active leprosy cases and their household contacts were chosen from a high endemic area in Purulia. Fifty-two soil samples were also collected from different areas of their houses. DNA was extracted from slit-skin smears (SSS) and soil samples and the Mycobacterium leprae-specific RLEP (129 bp) region was amplified using PCR. Molecular typing of M. leprae was performed for all RLEP PCR-positive samples by single nucleotide polymorphism (SNP) typing and confirmation by DNA sequencing. SSS of these five patients and six out of the total 28 contacts were PCR positive for RLEP whereas 17 soil samples out of 52 showed the presence of M. leprae DNA. SNP typing of M. leprae from all RLEP PCR-positive subjects (patients and smear-positive contacts) and 10 soil samples showed the SNP type 1 genotype. M. leprae DNA from the five leprosy patients and the six contacts was further subtyped and the D subtype was noted in all patients and contacts, except for one contact where the C subtype was identified. Typing followed by subtyping of M. leprae clearly revealed that either the contacts were infected by the patients or both patients and contacts had the same source of infection. It also revealed that the type of M. leprae in the soil in the inhabited areas where patients resided was also of the same type as that found in patients. © 2013 The Authors Clinical Microbiology and Infection © 2013 European Society of Clinical Microbiology and Infectious Diseases.

  7. Symmetries in Genetic Systems and the Concept of Geno-Logical Coding

    Directory of Open Access Journals (Sweden)

    Sergey V. Petoukhov

    2016-12-01

    Full Text Available The genetic code of amino acid sequences in proteins does not allow understanding and modeling of inherited processes such as inborn coordinated motions of living bodies, innate principles of sensory information processing, quasi-holographic properties, etc. To be able to model these phenomena, the concept of geno-logical coding, which is connected with logical functions and Boolean algebra, is put forward. The article describes basic pieces of evidence in favor of the existence of the geno-logical code, which exists in p­arallel with the known genetic code of amino acid sequences but which serves for transferring inherited processes along chains of generations. These pieces of evidence have been received due to the analysis of symmetries in structures of molecular-genetic systems. The analysis has revealed a close connection of the genetic system with dyadic groups of binary numbers and with other mathematical objects, which are related with dyadic groups: Walsh functions (which are algebraic characters of dyadic groups, bit-reversal permutations, logical holography, etc. These results provide a new approach for mathematical modeling of genetic structures, which uses known mathematical formalisms from technological fields of noise-immunity coding of information, binary analysis, logical holography, and digital devices of artificial intellect. Some opportunities for a development of algebraic-logical biology are opened.

  8. Phylogenetic Analysis of C Type Lectin from Toxocara canis Infective Larvae and Comparison with the C Type Lectin Fam-ily in the Immune System of Mouse and Human

    Directory of Open Access Journals (Sweden)

    Fazeleh ETEBAR

    2018-03-01

    Full Text Available Background: C type lectin (CTL family is a type of calcium-dependent proteins found in vertebrates and invertebrates. The objective of this study was to perform a comparative analysis and phylogenetic inferring for understanding the similarities and differences of carbohydrate recognition domain (CRD domain of Toxocara canis CTL and other nematodes, and similar C type lectin involved in the immune system of mouse and human as their host.Methods: The female T. canis was retrieved from the 2-6 months puppies (Department of Parasitology, Faculty of Veterinary Medicine, University of Tehran, 2015. To collect T. canis eggs, the worms were cultured for 5 d until they were embryonated. The hatching process was accelerated for collecting the stage 2 larvae, and the larvae were cultured for a week. A cDNA library was made from the total mRNA of T. canis infective larvae. The PCR amplification for C type lectin gene was performed and the amino acids were analyzed using the alignment method and the construction of phylogenetic tree.Results: The suspension sample maintained at 30 ºC for four weeks could embryonate 90%-100% of eggs. T. canis CTL gene was 657 bp in length and encoded a protein with 219 amino acids. The CTL of species of Strongylida order were closely placed in the tree, whereas the members of Ascaridida orders were located in a separate branch. High levels of similarity (36%-44% and conservation of C type lectin from T. canis with mouse and human C type lectins. Its C type lectin showed a higher similarity with asialoglycoprotein receptor (ASGPR, macrophage lectin, dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN, MINCLE receptor of mouse and human.Conclusion: Analysis of CRD domain of C type lectin protein could make a better understanding of their role in the interaction of nematode parasite with their hosts.

  9. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  10. Risk Perceptions for Developing Type 2 Diabetes among Overweight and Obese Adolescents with and without a Family History of Type 2 Diabetes.

    Science.gov (United States)

    Amuta, Ann O; Barry, Adam E; J McKyer, E Lisako

    2015-11-01

    Examine risk perceptions among overweight and obese adolescents for developing Type 2 Diabetes (T2D) compared to their peers, in adulthood and in their lifetime. Participants (N = 319) were overweight/obese college-aged students. Multiple linear regression analyses examined the predictive relationship of the independent variables on comparative, absolute and 5-year perceived risk for developing T2D. Female adolescents (β=0.186, p risk perceptions. Although most respondents reported behavioral risk factors for developing T2D, behavioral causal belief had no statistically significant (p > .05) association with personal T2D risk assessment. The at-risk participants in this investigation primarily based their T2D risk assessment on non-modifiable factors, possible undervaluing the influence of behavioral risk and protective factors. Future work should seek to improve awareness of the influence of behavioral factors and also seek to increase the perceived risk of not engaging in protective behaviors such as physical activity and weight management.

  11. Interacciones genotóxicas de mutágenos en mezclas binarias mediante ensayo cometa alcalino en linfocitos humanos

    OpenAIRE

    Isabel C. Ortiz; Carlos A. Peláez; Luz Yaneth Orozco; Margarita Zuleta

    2012-01-01

    Introducción. Los mutágenos contenidos en mezclas complejas presentan interacciones desinergismo, aditivas o antagónicas. Se han desarrollado enfoques experimentales que permitandilucidar el responsable de las interacciones en la mezcla. Objetivo. Desarrollar un diseño experimental para comprender los procesos que se llevan a caboentre los compuestos presentes en las mezclas complejas. Materiales y métodos. Se expusieron linfocitos humanos a mezclas binarias de mutágenos B[a]P,DMBA, T...

  12. COMPARACIÓN DE DOS MODELOS DE RESPUESTA A DOSIS DE NITRÓGENO EN MAÍZ Y CAFETO

    OpenAIRE

    Gloria M. Martín Alonso; Alberto Pérez Díaz; Ramón Rivera Espinosa; Carlos Bustamante González; Rolando Viñals Núñez; Mario Varela Nualles

    2016-01-01

    El método común para generar recomendaciones de fertilización, es ajustar los datos de rendimiento en forma independiente para cada cultivo, a través de modelos matemáticos. El trabajo se realizó con el objetivo de comparar dos modelos de ecuaciones de respuesta a dosis de nitrógeno, en dos cultivos de importancia económica: maíz y cafeto y definir los criterios más adecuados para seleccionar el modelo que ofrezca una dosis óptima de fertilización. Se estudiaron dosis de nitrógeno que oscilar...

  13. pyGeno: A Python package for precision medicine and proteogenomics [version 2; referees: 1 approved, 2 approved with reservations

    Directory of Open Access Journals (Sweden)

    Tariq Daouda

    2016-05-01

    Full Text Available pyGeno is a Python package mainly intended for precision medicine applications that revolve around genomics and proteomics. It integrates reference sequences and annotations from Ensembl, genomic polymorphisms from the dbSNP database and data from next-gen sequencing into an easy to use, memory-efficient and fast framework, therefore allowing the user to easily explore subject-specific genomes and proteomes. Compared to a standalone program, pyGeno gives the user access to the complete expressivity of Python, a general programming language. Its range of application therefore encompasses both short scripts and large scale genome-wide studies.

  14. Efecto modulador del sulfuro de hidrógeno en el metabolismo basal en Cavia porcellus (cuy) normales

    OpenAIRE

    Gómez Herreros, César Gonzalo

    2016-01-01

    Evalúa el efecto modulador del H2S a 80 ppm sobre el metabolismo basal en Cavia porcellus (cuy) normales. Para ello mide el consumo de oxígeno y producción de dióxido de carbono del Cavia porcellus (cuy) normales inmediatamente antes y después de la exposición al sulfuro de hidrógeno. Para luego determinar los cambios histológicos a nivel de tejido pulmonar, cardiaco y renal, y los niveles de hemoglobina entre los grupos experimentales (control, experimental y gold estándar). Tesis

  15. Actividad in vitro de bacterias endófitas fijadoras de nitrógeno y solubilizadoras de fosfatos.

    OpenAIRE

    Alexander Pérez-Cordero; Adriana Tuberquia-Sierra; Daniel Amell-Jímenez

    2014-01-01

    Actividad in vitro de bacterias endófitas fijadoras de nitrógeno y solubilizadoras de fosfatos. El objetivo de este estudio fue evaluar in vitro la actividad fijadora de nitrógeno y solubilizadora de fosfato de bacterias endófitas de pasto colosoana (Bothriochloa pertusa). Se colectó la raíz, los tallos y las hojas del pasto en cuatro zonas agroecológicas del municipio de Corozal, Sucre, Colombia, durante el segundo semestre del año 2012. Cada tejido fue sometido a proceso de desinfec...

  16. Estrogens, aging and Alzheimer's dosiase Estrógenos, envejecimiento y enfermedad de Alzheimer

    Directory of Open Access Journals (Sweden)

    Fabio Sánchez E.

    1999-03-01

    Full Text Available The possible protective role of estrogens in aging and Alzheimer‘s disease, is presently a subject of considerable interest and research. There are evidences that decreased estrogen production after menopause is associated with cognitive deterioration that can be prevented or corrected with hormonal substitution therapy (HST. Some studies have concluded that HST with estrogens is related with a decreased risk of developing Alzheimer‘s disease or, at least, with a delay in its onset. Other clinical studies show, though preliminarily, that estrogens can improve cognitive functions in women with Alzheimer‘s disease. Nevertheless, these evidences are not yet sufficient to recommend indiscriminate use of estrogens either in all postmenopausal women or in those affected by dementia. It will be necessary to wait for the results of the prospective WH1-MS study, that will analyze the effects of HST on the development of dementia in a large female population. Faced with an incurable illness, like Alzheimer‘s disease, any therapy that offers a delay in the age of onset, reduces its severity or the speed of progression, or produces an improvement in the quality of life, becomes a matter of interest for those affected and for the scientific community that studies this disorder. El posible papel protector que ejercen los estrógenos en el envejecimiento y en la prevención de la enfermedad de Alzheimer es un tema de mucho interés y de investigación hoy en día. Existen evidencias de que la merma en la producción de estrógenos después de la menopausia está asociada con deterioro cognitivo que puede subsanarse o prevenirse con el uso de terapia de sustitución hormonal. Algunos estudios han concluido, además, que la terapia de sustitución hormonal con estrógenos se relaciona con disminución del riesgo de desarrollar enfermedad de Alzheimer o, por lo menos, con un retardo en su inicio. Otros estudios clínicos evidencian, aunque de manera

  17. Association of the TPO gene in Colombian families with type 1 diabetes Asociación del gen TPO en familias colombianas con la diabetes tipo 1

    Directory of Open Access Journals (Sweden)

    Federico Uribe Londoño

    2009-11-01

    Full Text Available

    family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">We have found linkage and association of type 1 diabetes (T1D to 2p25. The TPO gene lies within this region. Our aim was to test the association of this gene with the susceptibility to T1D in a group of Colombian families, all of them originated in Antioquia, a special population in northwestern Colombia. One hundred familial trios with type 1 diabetes (T1D were analyzed. They had already been studied for anti-glutamic acid descarboxilase (GAD antibodies and the marker locus D2S319.

    family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">For further characterization, the probands were tested for autoantibodies against insulin, TPO and thyrosine phosphatase 2 (IA-2. Two single nucleotide polymorphisms (SNPs (rs4927611 and rs732609 were tested in TPO. These two markers were chosen considering that the polymorphism changes the encoded amino-acid and a minor allele frequency, MAF, ≥ 0.3. SNP typing was carried out by means of the polymerase chain reaction/restriction fragment length polymorphisms (PCR-RFLP and the tetraprimer amplification  refractory   mutation    system  (ARMS-PCR methods. Hardy-Weinberg family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">equilibrium (HWE and linkage disequilibrium (LD analyses were separately tested on both parents and probands. Genetic association was tested by the

  18. Detección de mutacarcinógenos en aguas del Río Pantanillo y efecto genotóxico de esta agua en el DNA nuclear y mitocondrial de células eucarióticas

    Directory of Open Access Journals (Sweden)

    Margarita Zuleta

    2000-02-01

    Full Text Available

    family: Arial">Las aguas negras procedentes de domicilios, hospitales, fábricas, estaciones de gasolina, etc, están cargadas de gran variedad de mutacarcinógenos, como el benzopireno y el antraceno que se forman durante la combustión y pirólisis del material orgánico y se agrupan como hidrocarburos policíclicos aromáticos (HPA, además de las nitrosaminas y aminas heterocíclicas que se generan por la descomposición térmica de alimentos ricos en proteínas y creatina, como la carne asada y frita.  Estos mutágenos también se encuentran en las cenizas, el vapor del aceite de fritos y en la orina y las heces de personas que consumen alimentos fritos y asados (Felton y Knize 1990; Zuleta et al, sin publicar. Las aguas negras del Retiro son tratadas en una planta de lodos activados y luego son vertidas en el río Pantanillo, el cual es el principal afluente de la represa La Fe. Ésta surte la planta de tratamiento de aguas la Ayurá, que distribuye agua potable a más de 2.000.000 de personas. Con el fin de conocer el tipo de mutágenos que pueden llegar al río Pantanillo y si la planta de tratamiento a base de lodos activados es eficiente en su retención, identificamos los mutágenos contenidos en las aguas negras antes y después de pasar por la planta. Además evaluamos su mutagenicidad, genotoxicidad y la inhibición de la síntesis del DNA.

    family: Arial">Hasta el presente hemos obtenido los siguientes resultados:

    family: Symbol">·family: 'Times New Roman'; font-style: normal; font-variant: normal; font-weight: normal; font-size: 7pt; line-height: normal; font-size-adjust: none; font-stretch: normal">         

  19. Effect of personal characteristics, victimization types, and family- and school-related factors on psychological distress in adolescents with intellectual disabilities.

    Science.gov (United States)

    Chiu, Yu-Lung; Kao, Senyeong; Tou, Shao-Wen; Lin, Fu-Gong

    2017-02-01

    The purpose of this study was to determine the prevalence of bullying victimization among adolescents with intellectual disabilities and the influence of victimization experience on their mental health in Taiwan. Data on 706 adolescents from the 2011 Special Needs Education Longitudinal Study were analyzed. Multivariate regression analysis was applied to variables comprising 7 items of psychological distress, 4 types of bullying victimization, and family-, school-, and peer-related factors. Approximately 70% of the survey respondents had experienced at least one type of victimization, and 44% of them had experienced at least two types of victimization. Exclusion (50%) and verbal bullying (70%) were the most commonly reported types. In addition, exclusion and verbal bullying were found to be significantly associated with psychological distress in these adolescents. Our findings suggest that victimization is a common experience among adolescents with disabilities, and a notable risk factor for the psychological well-being of adolescents with intellectual disabilities. However, a good relationship with parents and peers can relieve psychological distress and its effect on mental health. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  20. Restriction fragment length polymorphism of rRNA genes for molecular typing of members of the family Legionellaceae

    DEFF Research Database (Denmark)

    Bangsborg, J M; Gerner-Smidt, P; Colding, H

    1995-01-01

    Typing of Legionella pneumophila remains important in the investigation of outbreaks of Legionnaires' disease and in the control of organisms contaminating hospital water. We found that the discriminatory power of a nonradioactive ribotyping method could be improved by combining results obtained...... of the combinations of enzymes used. Some strains belonging to the same serogroup were assigned to different ribotypes, and some ribotypes contained members of different serogroups, indicating, as others have found, that serogroup and genotype are not always related. The discriminatory power of the method...

  1. Human dehydrogenase/reductase (SDR family) member 11 is a novel type of 17β-hydroxysteroid dehydrogenase.

    Science.gov (United States)

    Endo, Satoshi; Miyagi, Namiki; Matsunaga, Toshiyuki; Hara, Akira; Ikari, Akira

    2016-03-25

    We report characterization of a member of the short-chain dehydrogenase/reductase superfamily encoded in a human gene, DHRS11. The recombinant protein (DHRS11) efficiently catalyzed the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5α-androstanes into their 17β-hydroxyl metabolites with NADPH as a coenzyme. In contrast, it exhibited reductive 3β-hydroxysteroid dehydrogenase activity toward 5β-androstanes, 5β-pregnanes, 4-pregnenes and bile acids. Additionally, DHRS11 reduced α-dicarbonyls (such as diacetyl and methylglyoxal) and alicyclic ketones (such as 1-indanone and loxoprofen). The enzyme activity was inhibited in a mixed-type manner by flavonoids, and competitively by carbenoxolone, glycyrrhetinic acid, zearalenone, curcumin and flufenamic acid. The expression of DHRS11 mRNA was observed widely in human tissues, most abundantly in testis, small intestine, colon, kidney and cancer cell lines. Thus, DHRS11 represents a novel type of 17β-hydroxysteroid dehydrogenase with unique catalytic properties and tissue distribution. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Las pruebas intradérmicas de evaluación de competencia celular Estudio comparativo entre antígenos clásicos y otros antígenos

    Directory of Open Access Journals (Sweden)

    Miguel Guzmán

    1982-12-01

    Full Text Available Se presenta un estudio comparativo en la respuesta de hipersensibilidad demorada frente a 4 antígenos universalmente recomendados. Tuberculina (TU. Candidina (CA, Streptokinasa/Streptodornasa (SK/SD y virus de Parotiditis (PA con otros antígenos de uso menos común tal como Antígeno-Respiratorio-Mixto (ARM y lisado de Staphylococcus aureus 80/81 (LS. De igual manera se estudió la respuesta al Dinitroclorobenceno (DNCB. La población probada fue de 49 personas normales con edades entre 18-23 años. Los resultados mostraron que la reactividad para ARM es de 91,8%, para LS 91.8%. para Candidina 75%. para TU (10U 24.4%. pare SK/SD de solo 6.8% y para Parotiditis 6,1%. Los estudios con DNCB permiten aconsejar su uso solo en casos muy especiales. El trabajo presentado sugiere una normalización en la lectura y el uso de 4 antígenos con la más alta frecuencia de positividad dentro del grupo probado así: ARM, LS, CA, y TU.

  3. Activity-Dependent Calcium, Oxygen, and Vascular Responses in a Mouse Model of Familial Hemiplegic Migraine Type 1

    DEFF Research Database (Denmark)

    Khennouf, Lila; Gesslein, Bodil; Lind, Barbara Lykke

    2016-01-01

    it with assessment of local field potentials by electrophysiological recordings, cerebral blood flow by laser Doppler flowmetry, and oxygen consumption with measurement of the oxygen tissue tension. Results: During spreading depression, the evoked increase in cytosolic Ca2+ was larger and faster in FHM1 mice than...... wild-type (WT) mice. It was accompanied by larger increases in oxygen consumption in FHM1 mice, leading to tissue anoxia, but moderate hypoxia, in WT mice. In comparison, before CSD, Ca2+ and hemodynamic responses to somatosensory stimulations were smaller in FHM1 mice than WT mice and almost abolished...... after CSD. The CSD-induced Ca2+ changes were mitigated by the CaV2.1 gating modifier, tert-butyl dihydroquinone. Interpretation: Our findings suggest that tissue anoxia might be a mechanism for prolonged aura in FHM1. Reduced Ca2+ signals during normal network activity in FHM1 as compared to WT mice may...

  4. A new synthetic route to a family of non-classical addition-type thermoplastics. I - Concept and demonstration

    Science.gov (United States)

    Pater, Ruth H.

    1988-01-01

    A synthesis scheme was developed for a host of nonclassical addition-type thermoplastics (ATT) that can be cured by an addition reaction, leading to a linear polymer structure. The synthesis involves the reaction of an acetylene-terminated prepolymer with either a bismaleimide (BMI) or a biscitraconimide. A new polymer, designated LaRC-RP80, synthesized using this scheme, was found to exhibit several significantly improved properties over the commercial BMI, Kerimid 601, including an eight-fold increase in toughness while maintaining a high Tg, a higher (by 167 C) heat stability, and a 50-percent increase in moisture resistance. In addition, LaRC-RP80 has good hot/wet lap shear strength and processes easily at 288 C without voids in the finished product.

  5. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies

    Energy Technology Data Exchange (ETDEWEB)

    Becker, J.; Schmidt, W.; Olek, K. [Univ. of Bonn (Germany)] [and others

    1996-04-01

    The clinical manifestation of hemophilia A is caused by a wide range of different mutations. In this study the factor VIII genes of 147 severe hemophilia A patients-all exclusively from sporadic families-were screened for mutations by use of the complete panel of modern DNA techniques. The pathogenous defect could be characterized in 126 patients (85.7%). Fifty-five patients (37.4%) showed a F8A-gene inversion, 47 (32.0%) a point mutation, 14 (9.5%) a small deletion, 8 (5.4%) a large deletion, and 2 (1.4%) a small insertion. Further, four (2.7%) mutations were localized but could not be sequenced yet. No mutation could be identified in 17 patients (11.6%). Sixteen (10.9%) of the P identified mutations occurred in the B domain. Four of these were located in an adenosine nucleotide stretch at codon 1192, indicating a mutation hotspot. Somatic mosaicisms were detected in 3 (3.9%) of 76 patients` mothers, comprising 3 of 16 de novo mutations in the patients` mothers. Investigation of family relatives allowed detection of a de novo mutation in 16 of 76 two-generation and 28 of 34 three-generation families. On the basis of these data, the male:female ratio of mutation frequencies (k) was estimated as k = 3.6. By use of the quotients of mutation origin in maternal grandfather to patient`s mother or to maternal grandmother, k was directly estimated as k = 15 and k = 7.5, respectively. Considering each mutation type separately, we revealed a mutation type-specific sex ratio of mutation frequencies. Point mutations showed a 5-to-10-fold-higher and inversions a >10-fold- higher mutation rate in male germ cells, whereas deletions showed a >5-fold-higher mutation rate in female germ cells. Consequently, and in accordance with the data of other diseases like Duchenne muscular dystrophy, our results indicate that at least for X-chromosomal disorders the male:female mutation rate of a disease is determined by its proportion of the different mutation types. 68 refs., 1 fig., 5 tabs.

  6. Cobre antimicrobiano contra patógenos intrahospitalarios en Perú

    Directory of Open Access Journals (Sweden)

    Edwin Neciosup

    2015-01-01

    Full Text Available Introducción: Las infecciones intrahospitalarias (IIH constituyen un problema de salud pública que generan grandes gastos por parte de los gobiernos, debido a que los patógenos causantes de IIH presentan resistencia a fármacos y generan una mayor permanencia de los pacientes, pues la infraestructura hospitalaria constituye un reservorio favorable para los patógenos. Las superficies de cobre surgen como opción sanitaria y efectiva para controlar el crecimiento y propagación de estos patógenos. Objetivos: Evaluar la actividad bactericida de las superficies de cobre contra los principales bacterias patógenas causantes de IIH (Escherichia coli, Pseudomonas aeruginosa y Staphylococcus aureus. Diseño: Estudio experimental con muestreo no probabilístico. Lugar: Hospital Regional Docente las Mercedes (HRDLM y Hospital Provincial Docente Belén (HPDB, Lambayeque, Perú. Materiales: Nueve cepas bacterianas, 3 de E. coli , 3 de P. aeruginosa y 3 de S. aureus; superficies metálicas (1 cm² de cobre y acero inoxidable (control . Intervenciones: Las 9 cepas bacterianas fueron proporcionadas por los hospitales HRDLM (4 cepas y HPDB (5 cepas. Los análisis de ANOVA y de Tukey fueron aplicados para evaluar la actividad bactericida de las superficies de cobre y acero inoxidable contra las 9 cepas causantes de IIH, usando los programas estadísticos Minitab y Sigmaplot, respectivamente. Principales medidas de resultados: Diferencias en el crecimiento bacteriano sobre superficies de cobre o acero inoxidable, con respecto al tiempo de exposición. Resultados: Las 9 cepas -3 de P. aeruginosa, 3 de E. coli y 3 de S. aureus - expuestas a superficies de cobre fueron eliminadas en 10, 15 y 60 minutos, respectivamente. La carga bacteriana de las células expuestas en superficies de acero inoxidable permaneció constante y viable por periodos mayores a 60 minutos. Además, las superficies de cobre eliminaron más rápido a las bacterias Gram negativas (P

  7. PrhN, a putative marR family transcriptional regulator, is involved in positive regulation of type III secretion system and full virulence of Ralstonia solanacearum

    Directory of Open Access Journals (Sweden)

    Zhang eYong

    2015-04-01

    Full Text Available The MarR-family of transcriptional regulators are involved in various cellular processes, including resistance to multiple antibiotics and other toxic chemicals, adaptation to different environments and pathogenesis in many plant and animal pathogens. Here, we reported a new MarR regulator PrhN, which was involved in the pathogenesis of Ralstonia solanacearum. prhN mutant exhibited significantly reduced virulence and stem colonization compared to that of wild type in tomato plants. prhN mutant caused identical hypersensitive response (HR on resistant plants to the wild type. Deletion of prhN gene substantially reduced the expression of type III secretion system (T3SS in vitro and in planta (mainly in tomato plants, which is essential for pathogenicity of R. solanacearum, and the complemented PrhN could restore its virulence and T3SS expression to that of wild type. T3SS is directly controlled by AraC-type transcriptional regulator HrpB, and the transcription of hrpB is activated by HrpG and PrhG. HrpG and PrhG are homologues but are regulated by the PhcA positively and negatively respectively. Deletion of prhN gene also abolished the expression of hrpB and prhG, but didn't change the expression of hrpG and phcA. Together, these results indicated that PrhN positively regulates T3SS expression through PrhG and HrpB. PrhN and PhcA should regulate prhG expression in a parallel way. This is the first report on the pathogenesis of MarR regulator in R. solanacearum, and this new finding will improve our understanding on the various biological functions of MarR regulator and the complex regulatory network on hrp regulon in R. solanacearum.

  8. An Examination of Family, Healthcare Professionals, and Peer Advice on Physical Activity Behaviors among Adolescents at High Risk for Type 2 Diabetes.

    Science.gov (United States)

    Amuta, Ann O; Jacobs, Wura; Barry, Adam E

    2017-07-01

    Studies have shown that many college students do not meet the recommended daily physical activity (PA) levels, and about 22% of these students are overweight. Given that engaging in PA is a protective behavior against many chronic conditions, it is imperative to understand what sources of information/advice to engage in PA is most influential. Hence, the purpose of this study was to examine the relative impact of different sources of advice regarding exercise and PA on actual PA engagement among obese/overweight adolescents. Using data from 319 overweight/obese college students, multivariate regression analyses were conducted to examine which source of advice (from parents, peers, or healthcare provider) to engage in PA was associated with PA behavior among these adolescents. Influence of type 2 diabetes (T2D) family history on PA behavior was also examined. Moderate and vigorous PA behavior was more likely among obese/overweight adolescents who received advice to exercise or engage in PA from their peers (B = 200.85, β = 0.193, p = 0.001; B = 121.19, β = 0.145, p = 0.014). Overweight/obese adolescents with a T2D family history were more likely to walk compared with those without a T2D family history (χ 2  = 12.97, p = 0.000). Findings suggest that although healthcare professionals advise obese/overweight adolescents, those who received advice regarding PA behavior from their peers were more likely to heed the advice and exercise/engage in PA. In essence, intervention efforts should focus on employing peer ambassadors to counsel other adolescents on the importance of PA.

  9. The Relationship Between Maternal Awareness, Socioeconomic Situation of Families and Metabolic Control in Children With Type 1 Diabetes Miletus in an Iranian Population

    Directory of Open Access Journals (Sweden)

    Soheilipour

    2015-08-01

    Full Text Available Background Type 1 diabetes mellitus (T1DM is one of the most common chronic pediatric conditions, with potentially life-threatening sequels. However, good metabolic control can protect the patients against sequels. Objectives The aim of this study was to examine the relationship between awareness of the mothers about this disease on improving diabetic children metabolic control and also, to examine the relationship between socioeconomic situations of families and control of diabetes in this group of patients. Patients and Methods This is a cross-sectional descriptive analytic study on 80 diabetic children and their mothers, who were registered in the diabetes association of Iran, for outpatient control of disease. Diabetes knowledge was measured by Michigan diabetes knowledge test and glycemic control was assessed by glycosylated hemoglobin (HbA1c. To assess the socio-economic status of a diabetic child’s family, educational level, occupational and marital status of parents were asked and the socioeconomic status (SES was evaluated with Hollingshed four-factor index of SES. Results Mothers’ mean knowledge score was 17.72, children’s mean HbA1c was 7.77 and mean of SES was 27.89. There was no significant correlation between children’s HbA1c and mother’s SES. Also, there was an inverse linear relationship between mothers’ knowledge score and children’s HbA1c and there was a direct linear relationship between the mothers’ knowledge score and SES. Conclusions Finally, based on the results obtained in this study, it can be concluded that the awareness of mothers of T1DM children has a good impact on blood sugar control, whereas the SES of families has no direct effect on blood sugar control. Additionally, SES can indirectly impact on the consciousness of mothers and lead to the reduction of HbA1c.

  10. Association of the HindIII and S447X Polymorphisms in LPL Gene with Hypertension and Type 2 Diabetes in Mexican Families

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    Salvador Muñoz-Barrios

    2012-01-01

    Full Text Available Lipoprotein lipase (LPL is a key enzyme in lipid metabolismand is associatedwith obesity, dyslipidemias, hypertension (HTN and type 2 diabetes mellitus (T2DM. LPL gene polymorphisms can be related with the development of cardiovascular risk factors. The present study was conducted to analyze the relationship of the HindIII and S447X polymorphisms in LPL gene with cardiovascular risk factors in Mexican families. The study population comprised ninety members of 30 Mexican families, in which an index case had obesity, were included in the study. We evaluated the body composition by bioelectrical impedance. Peripheral blood samples were collected to determine biochemical parameters. Screening for both polymorphisms was made by PCR-RFLPs. In the parents, both polymorphisms were in Hardy-Weinberg’s equilibrium. We found that the genotype T/T of HindIII was associated with diastolic blood pressure ≧ 85 mmHg (OR = 1.1; p = 0.011, whereas the genotype C/C of S447X was associated with systolic blood pressure ≧ 130 mmHg (OR = 1.2; p < 0.001, diastolic blood pressure ≧ 85 mmHg (OR = 1.3; p < 0.001, T2DM (OR = 1.3; p < 0.001 and with increase of total cholesterol (β = 23.6 mg/mL; p = 0.03. These data suggest that the HindIII and S447X LPL gene polymorphisms can confer susceptibility for the development of hypertension and T2DM in Mexican families.

  11. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

    Science.gov (United States)

    Stiburkova, Blanka; Krijt, Jakub; Vyletal, Petr; Bartl, Josef; Gerhatova, Eva; Korinek, Martin; Sebesta, Ivan

    2012-01-18

    The article describes the clinical, biochemical, enzymological and molecular genetics findings in two patients from two families with xanthinuria type I. Biochemical analysis using high performance liquid chromatography, allopurinol loading test and analysis of xanthine oxidase activity in plasma and of uromodulin excretion in urine were performed. Sequencing analysis of the xanthine dehydrogenase gene and the haplotype and statistical analyses of consanguinity were performed. Probands showed extremely low concentrations of uric acid, on seven occasions under the limit of detection. The concentration of uric acid in 38-year-old female was 15 μmol/L in serum and 0.04 mmol/L in urine. Excretion of xanthine in urine was 170 mmol/mol creatinine. The concentration of uric acid in 25-year-old male was 0.03 mmol/L in urine. Excretion of xanthine in urine was 141 mmol/mol creatinine. The allopurinol loading test confirmed xanthinuria type I. The xanthine oxidase activities in patients were 0 and 0.4 pmol/h/mL of plasma. We found three nonsense changes: p.P214QfsX4 and unpublished p.R825X and p.R881X. We found two nonconsanguineous compound heterozygotes with xanthinuria type I caused by three nonsense changes. The methods used did not confirm consanguinity in the probands, thus there might be an unconfirmed biological relationship or mutational hotspot. Copyright © 2011 Elsevier B.V. All rights reserved.

  12. CRECIMIENTO Y EFICIENCIA FOTOSINTÉTICA DE Ludwigia decurrens Walter (ONAGRACEAE BAJO DIFERENTES CONCENTRACIONES DE NITRÓGENO

    Directory of Open Access Journals (Sweden)

    MARIA ANGÉLICA SANCLEMENTE

    2008-01-01

    Full Text Available En el presente estudio se evaluó el crecimiento y la eficiencia fotosintética de Ludwigia decurrens (Onagraceae, a partir de la estimación de la fluorescencia de la clorofila bajo diferentes concentraciones de nitrógeno (0 mg/L, 465 mg/L y 930 mg/L en condiciones de laboratorio. Como parámetros de crecimiento se utilizaron la longitud total del tallo y el área foliar. Durante el periodo de estudio se observó un incremento en el crecimiento y la eficiencia quántica con el aumento en la concentración de nitrógeno. Sin embargo, no se presentaron diferencias significativas (p<0,05 en los valores de fluorescencia de la clorofila entre los tratamientos. Los resultados del comportamiento de la eficiencia fotosintética (Fv/Fm y el crecimiento de las plantas tratadas con diferentes concentraciones de nitrógeno, demuestran que la macrófita Ludwigia decurrens crece en ambientes relativamente altos de nitrógeno.

  13. Antígenos nativos de Aspergillus fumigatus con utilidad para el inmunodiagnóstico de aspergiloma

    Directory of Open Access Journals (Sweden)

    José Casquero

    2009-04-01

    Full Text Available Con el objetivo de evaluar la utilidad de los antígenos nativos de cepas autóctonas de Aspergillus fumigatus para el inmunodiagnóstico de aspergiloma, se desarrolló un estudio empleando dos cepas de ese hongo, aisladas de pacientes con diagnóstico de aspergiloma (533 y 554, los cuales fueron confrontados con sueros controles comerciales de A. fumigatus, A. flavus, A. niger, Candida, Coccidioides, Histoplasma y Paracoccidioides mediante la prueba de inmunodifusión, asimismo, se evaluaron frente a 28 sueros de pacientes con sospecha de aspergiloma. Además, se realizó la caracterización de los componentes proteicos de los antígenos nativos con la técnica de SDS-PAGE y se confrontaron con diez sueros de pacientes con aspergiloma, paracoccidioidomicosis, histoplasmosis, proteína C reactiva e hidatidosis y suero de persona sana por inmunoblot. Se encontró una buena concordancia (kappa 0,92 entre los antígenos 533 y 554, y algo menor de éstos con el antígeno comercial para A. fumigatus (kappa 0,73 y 0,81 para el 553 y 554; respectivamente. La banda de 97 kDa reaccionó sólo con sueros de pacientes con aspergiloma siendo inmunodominante.

  14. Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.

    Science.gov (United States)

    Nakamura, T; Ozawa, T; Kawasaki, T; Yasumi, K; Wang, D Y; Kitagawa, M; Takehira, Y; Tamakoshi, K; Yamada, M; Kida, H; Sugie, H; Nakamura, H; Sugimura, H

    1999-06-01

    A 40-year-old man with glycogen storage disease type 1a (von Gierke disease, GSD1a) developed hepatocellular carcinoma (HCC). Cold single-strand conformation polymorphism (SSCP) with 12% glycerol identified the G727T mutation in the glucose-6-phosphatase (G6Pase) gene, which has been reported to be the most common mutation in Japanese GSD1a patients. This case report is the first documentation of HCC in a case with G727T mutation. Given the prevalence of HCC in GSD1a with various germline mutations, analysis is needed to confirm that the germline mutation in this case is really related to hepatocarcinogenesis. DNA analysis of the family pedigree of this case, revealed three individuals with GSD1a and seven heterozygous carriers of the G727T mutation. As the diagnosis of GSD1a in this family was made only after these three patients reached adulthood, DNA diagnosis may help early identification of GSD1a patients and prevention of the progression of the disease. This DNA-based diagnosis permits prenatal diagnosis in at-risk patients and may facilitate screening and counselling of patients clinically suspected of having this disease.

  15. Bacillus anthracis: una mirada molecular a un patógeno célebre Bacillus anthracis: a molecular look at a famous pathogen

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    María E Pavan

    2011-12-01

    Full Text Available Bacillus anthracis es un bacilo gram positivo del grupo Bacillus cereus, que posee un genoma extremadamente monomórfco y comparte gran similitud fsiológica y de estructura genética con B. cereus y Bacillus thuringiensis. En este artículo se describen nuevos métodos moleculares para la identifcación y tipifcación de B. anthracis, basados en repeticiones en tándem de número variable o en diferencias genéticas detectadas por secuenciación, desarrollados en los últimos años. Los aspectos moleculares de los factores de virulencia tradicionales, cápsula, antígeno protector, factor letal y factor edema se describen en profundidad, junto con factores de virulencia recientemente propuestos, como los sideróforos, petrobactina y bacilibactina, la adhesina de la capa S y la lipoproteína MntA. También se detalla la organización molecular de los megaplásmidos pXO1 y pXO2, incluyendo la isla de patogenicidad de pXO1. El esqueleto genético de estos plásmidos se ha encontrado en otras especies relacionadas, probablemente debido a eventos de transferencia lateral. Finalmente, se presentan los dos receptores celulares del antígeno protector, ANTXR1/TEM8 y ANTXR2/CMG2, esenciales en la interacción del patógeno con el hospedador. Los estudios moleculares realizados en los últimos años han permitido aumentar enormemente el conocimiento de los diferentes aspectos de este microorganismo y su relación con el hospedador, pero a la vez han abierto nuevos interrogantes sobre este notorio patógeno.Bacillus anthracis, a gram-positive rod belonging to the Bacillus cereus group, has an extremely monomorphic genome, and presents high structural and physiological similarity with B. cereus and Bacillus thuringiensis. In this work, the new molecular methods for the identifcation and typing of B. anthracis developed in the last years, based on variable number tandem repeats or on genetic differences detected through sequencing, are described. The

  16. High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

    DEFF Research Database (Denmark)

    Gjesing, Anette Marianne Prior; Hornbak, Malene; Allin, Kristine H.

    2014-01-01

    -induced beta cell response. In addition, single nucleotide polymorphisms (SNPs) having an exclusive effect on either glucose- or tolbutamide-stimulated insulin release were identified. Methods: Two hundred and eighty-four non-diabetic family members of patients with type 2 diabetes underwent a t......-FSIGT with intravenous injection of glucose at t∈=∈0 min and tolbutamide at t∈=∈20 min. Measurements of plasma glucose, serum insulin and serum C-peptide were taken at 33 time points from fasting to 180 min. Insulin secretion rate, acute insulin response (AIR), disposition index (DI) after glucose and disposition index...... after tolbutamide (DIT), insulin sensitivity (SI), glucose effectiveness (SG) and beta cell responsiveness to glucose were calculated. A polygenic variance component model was used to estimate heritability, genetic correlations and associations. Results: We found high heritabilities for acute insulin...

  17. Evaluación de un antígeno purificado para el diagnóstico de toxocariosis

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    Graciela Santillán

    Full Text Available La toxocariosis es una zoonosis causada por la ingestión de huevos infectivos de Toxocara spp. El diagnóstico de la enfermedad se basa en la detección de anticuerpos en el suero u otros fluidos biológicos. La técnica serológica más utilizada es el ELISA, que usa como antígeno los productos de excreción-secreción de larvas de tercer estadio (ES/L3. Estos productos antigénicos son glicoproteínas que se originan en los órganos secretorios del parásito y no son específicos de especie. Para evaluar la especificidad de la técnica de ELISA con el antígeno ES/L3, se emplearon sueros de personas con otras helmintiasis y con patologías no parasitarias. Se observó que estos sueros presentaron reactividad entre el 11 y el 70 % de los casos. El Western blot con suero de los mismos pacientes reveló que la glicoproteína que corresponde al triplete de 120 kDa fue la más inespecífica. Teniendo en cuenta estos resultados y con el propósito de purificar el antígeno se realizó una cromatografía de intercambio iónico. Cuando se analizaron los sueros de los pacientes con diferentes enfermedades parasitarias y no parasitarias con el antígeno ES/L3 purificado, solo fueron reactivos entre un 10 y un 20 % de ellos. La sensibilidad del test de ELISA determinada por el programa Epidat 3. 0 para los dos antígenos fue del 100 %, pero se observaron diferencias en la especificidad: para el antígeno ES/L3 total esta fue del 84 % y para el ES/L3 purificado del 99 %. Empleando el antígeno ES/L3 purificado se puede considerar que los sueros que son reactivos, en presencia de una sintomatología compatible, corresponden a pacientes que fueron o están parasitados con Toxocara canis.

  18. Development of a new 718-type Ni-Co superalloy family for high temperature applications at 750∘C

    Directory of Open Access Journals (Sweden)

    Fedorova Tatiana

    2014-01-01

    Full Text Available Alloy718 has been used for many years in the aerospace industry due to its unique mechanical properties and good processing characteristics, especially its workability. However, the temperature limit of Alloy718 is about 650 ∘C because of the thermal instability of the main strengthening phase γ′′-Ni3(Nb,Ti,Al. Numerous attempts have been made to develop a new wrought 718-type alloy for high temperature applications. The approach was to increase the stability, i.e. the solvus temperature of the γ′-phase (Tγ′,s. However, this affected workability as the solvus temperature of the δ-phase (Tδ,s did not increase accordingly so that the window for fine grain forging Tδ,s-Tγ′,s became smaller. In this paper the development of a new γ′/γ′-alloy on the basis of Alloy718 is presented, where the microstructure is stable at 800 ∘C, mechanical properties are similar to Alloy718, yet do not deteriorate beyond 650 ∘C, and the forging window is wider than the one of Alloy718, allowing for good workability. This was essentially achieved by the addition of about 17%–30% Co in combination with an Al/Ti-ratio of more than 5.0 and an Al-content of about 1.6%–2.2%. The key role of cobalt is to stabilize the δ-phase, allowing for solvus temperatures in excess of 1100 ∘C. Consequently, the stability of the γ′ -phase can be increased by further addition of aluminium. At the same time the Ti-content is reduced to prevent formation of the η-(Ni,Co3(Ti,Al,Nb phase. Besides discussion of the alloy development concept, information on microstructure evolution and mechanical properties will be given.

  19. An AIL family protein promotes type three secretion system-1-independent invasion and pathogenesis of Salmonella enterica serovar Typhi.

    Science.gov (United States)

    Chowdhury, Rimi; Mandal, Rahul S; Ta, Atri; Das, Santasabuj

    2015-04-01

    Adhesion and invasion of Intestinal Epithelial Cells (IECs) are critical for the pathogenesis of Salmonella Typhi, the aetiological agent of human typhoid fever. While type three secretion system-1 (T3SS-1) is a major invasion apparatus of Salmonella, independent invasion mechanisms were described for non-typhoidal Salmonellae. Here, we show that T2942, an AIL-like protein of S. Typhi Ty2 strain, is required for adhesion and invasion of cultured IECs. That invasion was T3SS-1 independent was proved by ectopic expression of T2942 in the non-invasive E. coli BL21 and double-mutant Ty2 (Ty2Δt2942ΔinvG) strains. Laminin and fibronectin were identified as the host-binding partners of T2942 with higher affinity for laminin. Standalone function of T2942 was confirmed by cell adhesion of the recombinant protein, while the protein or anti-T2942 antiserum blocked adhesion/invasion of S. Typhi, indicating specificity. A 20-amino acid extracellular loop was required for invasion, while several loop regions of T2942 contributed to adhesion. Further, T2942 cooperates with laminin-binding T2544 for adhesion and T3SS-1 for invasion. Finally, T2942 was required and synergistically worked with T3SS-1 for pathogenesis of S. Typhi in mice. Considering wide distribution of T2942 among clinical strains, the protein or the 20-mer peptide may be suitable for vaccine development. © 2014 John Wiley & Sons Ltd.

  20. The envelope glycoprotein of human endogenous retrovirus type W uses a divergent family of amino acid transporters/cell surface receptors.

    Science.gov (United States)

    Lavillette, Dimitri; Marin, Mariana; Ruggieri, Alessia; Mallet, François; Cosset, François-Loïc; Kabat, David

    2002-07-01

    The human endogenous retrovirus type W (HERV-W) family includes proviruses with intact protein-coding regions that appear to be under selection pressure, suggesting that some HERV-W proviruses may remain active in higher primates. The envelope glycoprotein (Env) encoded by HERV-W is highly fusogenic, is naturally expressed in human placental syncytiatrophoblasts, and has been reported to function as a superantigen in lymphocyte cultures. Recent evidence suggested that HERV-W Env can mediate syncytium formation by interacting with the human sodium-dependent neutral amino acid transporter type 2 (hASCT2; gene name, SLC1A5) (J.-L. Blond, D. Lavillette, V. Cheynet, O. Bouton, G. Oriol, S. Chapel-Fernandez, B. Mandrand, F. Mallet, and F.-L. Cosset, J. Virol. 74:3321-3329, 2000) and that it can pseudotype human immunodeficiency virus cores (D. S. An, Y. Xie, and I. S. Y. Chen, J. Virol. 75:3488-3489, 2001). By using cell-cell fusion and pseudotype virion infection assays, we found that HERV-W Env efficiently uses both hASCT2 and the related transporter hASCT1 (gene name, SLC1A4) as receptors. In addition, although HERV-W Env mediates only slight syncytium formation or infection of mouse cells, it utilizes the mouse transporters mASCT1 and mASCT2 when their sites for N-linked glycosylation are eliminated by mutagenesis. Consistent with their role as a battlefield in host-virus coevolution, the viral recognition regions in ASCT1 and ASCT2 of humans and mice are highly divergent compared with other regions of these proteins, and their ratios of nonsynonymous to synonymous nucleotide sequence changes are extremely large. The recognition of ASCT1 and ASCT2 despite this divergence of their sequences strongly suggests that the use of both receptors has been highly advantageous for survival and evolution of the HERV-W family of retroviruses.

  1. A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II

    Directory of Open Access Journals (Sweden)

    Prashant Warang

    2015-12-01

    Full Text Available Recessive hereditary methemoglobinemia (RCM associated with severe neurological abnormalities is a very rare disorder caused by NADH- cytochrome b5 reductase (cb5r deficiency (Type II. We report a case of 11 month old male child who had severe mental retardation, microcephaly and gross global developmental delay with methemoglobin level of 61.1%. The diagnosis of NADH-CYB5R3 deficiency was made by the demonstration of significantly reduced NADH-CYB5R3 activity in the patient and intermediate enzyme activity in both the parents. Mutation analysis of the CYB5R gene revealed a novel nine nucleotide deletion in exon 6 leading to the elimination of 3 amino acid residues (Lys173, Ser174 and Val 175. To confirm that this mutation was not an artifact, we performed PCR-RFLP analysis using the restriction enzyme Drd I. As the normal sequence has a restriction recognition site for Drd I which was eliminated by the deletion, a single band of 603-bp was seen in the presence of the homozygous mutation. Molecular modeling analysis showed a significant effect of these 3 amino acids deletion on the protein structure and stability leading to a severe clinical presentation. A novel homozygous 9 nucleotide deletion (p.K173–p.V175del3 is shown to be segregated with the disease in this family. Knowing the profile of mutations would allow us to offer prenatal diagnosis in families with severe neurological disorders associated with RCM — Type II.

  2. Staphylococcus aureus, evolución de un viejo patógeno

    Directory of Open Access Journals (Sweden)

    Ileana Álvarez Lam

    2012-12-01

    Full Text Available El Staphylococcus aureus está considerado uno de los microorganismos más importantes en la práctica médica diaria. Es capaz de provocar una amplia gama de enfermedades, ya sea por acción directa o mediante la acción de sus toxinas. El tratamiento de estas infecciones se ha convertido en algo extraordinariamente complejo en la época actual como consecuencia de la aparición en la comunidad de cepas de S. aureus, resistentes a la meticillina, que provocan infecciones en pacientes sin factores de riesgo, fundamentalmente niños y adolescentes. En este artículo se hace una revisión, que va desde los cambios en la epidemiología de este patógeno, hasta las implicaciones que para el tratamiento médico presupone este fenómeno.

  3. Generador oxihidrógeno para motor de combustión interna

    OpenAIRE

    Cebrián López, Héctor

    2014-01-01

    La pujada de preus dels carburants per la crisi econòmica actual motiva a investigar fonts d'energia alternatives. Les fonts d'energia convencionals com els combustibles fòssils són contaminants i costoses, i l'hidrogen generat a través de l'electròlisi de l'aigua és una solució ecològica i econòmica. En aquest projecte es dissenya un generador d'oxihidrógeno i s'estudien els efectes de l'addició d'aquest gas en 2 motors de combustió interna de 2 temps i 50 cc. Els resultats indiquen que, ...

  4. Combustible Biogás en Celdas de Hidrógeno

    OpenAIRE

    Dietmar Rössel Kipping; Hipólito Ortiz Laurel

    2013-01-01

    Celdas de hidrógeno con una capacidad de hasta 10 kW se ensayan en plantas pequeñas de generación de energía eléctrica. Esta es una fuente motriz alternativa, viable y competitiva. El combustible biogás consiste principalmente de metano y dióxido de carbono y otros compuestos, además de una variedad de impurezas que sin embargo, son dañinas para las celdas. Se exploró la viabilidad de producir un biogás adecuado para utilizarse en las celdas, la identificación de los gases dañinos y su remoci...

  5. GenoSol Platform: A Logistic and Technical Platform for Conserving and Exploring Soil Microbial Diversity.

    Science.gov (United States)

    Dequiedt, Samuel; Maron, Pierre-Alain; Ranjard, Lionel

    2016-01-01

    In 2008, the platform "GenoSol" ( http://www.dijon.inra.fr/plateforme_genosol ) was created at the INRA (French National Institute for Agronomic Research) of Dijon. This platform was launched by several soil microbial ecologist senior scientists to provide a logistics and technical structure dedicated to the acquisition, conservation, characterization, and supply of genetic resources (DNA) of soils from very large-scale samplings (several hundred to several thousand corresponding to large spatial and/or temporal scales). Thanks to this structure metagenomic analysis of soil microbial communities has been standardized as well as a reliable reference system for analysis of the microbial genetic resources of the collected soils (more than 10,000 soil samples to date). This platform also illustrates the usefulness of existing soil archives in providing a readily available source of ecological information that is relevant to microbial ecology, probably more than we can currently fathom.

  6. The technology of storage of a geno-fund of seeds of plants and animals

    International Nuclear Information System (INIS)

    Ombayev, A.M.; Tokhanov, M.T.; Burtebayeva, D.T.; Burtebayev, N.

    2002-01-01

    Because of an absent of special storages a geno-fund of plants seeds are stored mainly in usual unpractical laboratory conditions (in paper packs, in fabric bags, in metal boxes and so on). And during the first year of the storage the many Kinds of seeds begin to reduce a capacity of an inter-growth, and after several years they became to be useless to a sowing. As result, plant - breeders are forced to carry out frequent transplanting of collection samples, but it is connected with both significant material expenditures and a possible loss of a valuable geno-fund of seeds. But, from other hand, it is well known, that for a creation of only one new breed of animals it is necessary to carry out some experiments of during with from 15 to 30 years. With some economical reforms in Kazakhstan high - productive breeds of animals are on the brink of a disappearance. In connection with this the problem of the creation of the storage for the geno-fund of the seeds of the plants and of high - productive breeds of animals in Kazakhstan begins being an actual one. National storages, created in USA, Japan, Italy, Turkey, countries of SIS, correspond to definite standards, where there are maintained strict parameters for the storage active ventilation, storage in cooling state, a storage without of an access for air, a freezing in liquid nitrogen and in other coolants). Our investigations has established, that the storage of seeds of plants in gaseous medium with below-average content of oxygen increases a germinating power of seed. F.e. seeds of arid food plant of 'izen, Kochia prostrata', by natural way, keep the germinating power of seed, during about (6-8) months, and in gaseous medium its germinating power of seed reaches up to 5.5 years. Besides, at maturity of micro -organisms, there ore exterminated insects- pests and rodents. In order to improve mobility and a frost resistance of sperms of high productive stud-rams we had investigated the influence of electromagnetic

  7. Salvinorina A: terpeno alucinógeno presente en Salvia divinorum Epling & Játiva

    OpenAIRE

    Soto-Restrepo, Valentina; Taborda-Ocampo, Gonzalo; Garzón-Méndez, William

    2017-01-01

    Resumen. Tema y alcance: el objetivo de esta revisión es presentar los estudios químicos que se han realizado sobre Salvia divinorum E&J en estos últimos años. Características: desde la década de 1990 hasta hoy se ha incrementado la distribución y el uso de Salvia divinorum E&J para “fines recreativos”, debido a sus efectos alucinógenos y a su fácil acceso. Sus efectos en el organismo se han relacionado con las de otras sustancias como: delta-9- thc en la marihuana, dmt, lsd, mdma, pcp y keta...

  8. Reconocimiento de antígenos lipopolisacarídicos de Pseudomonas aeruginosa por sueros humanos

    Directory of Open Access Journals (Sweden)

    Jacquelin Alfonso

    2004-04-01

    Full Text Available En este trabajo se procedió al reconocimiento de lipopolisacáridos de diferentes serotipos de Pseusodomas aeruginosa por sueros humanos. Los lipopolisacáridos fueron aislados por el método Wespthal y Jann. Se utilizaron un total de 104 sueros de pacientes infectados y donantes voluntarios, provenientes de instalaciones hospitalarias y del Banco de Sangre, para el reconocimiento de antígenos lipopolisacarídicos, mediante el ensayo de Dott Blot. Los resultados mostraron que los serotipos de mayor reconocimiento, por los sueros testados, fueron el O11, O13, O16 y el O15, existiendo diferencias significativas entre ellos (p< 0,05.

  9. Fasciola hepatica: identificação in situ de antígenos

    Directory of Open Access Journals (Sweden)

    Sandra Márcia Tietz Marques

    2006-02-01

    Full Text Available O presente estudo objetivou avaliar antígenos excretórios/secretórios (Ag E/S e somáticos (Ag S de Fasciola hepatica, anticorpos específicos e demonstrar a presença de sítios reativos em corte histológico do parasito adulto pela técnica de imunoistoquímica. A resposta imune foi observada pela reação intensa nas células que circundam a ventosa ventral do parasito. A técnica de imunoistoquímica é sensível e de fácil execução na detecção de sítios antigênicos em cortes histológicos de Fasciola hepatica.

  10. AMONIO-OXIDASAS BACTERIANAS Y ARQUEALES INVOLUCRADAS EN EL CICLO DEL NITRÓGENO

    Directory of Open Access Journals (Sweden)

    Sergio Andrade Ochoa

    2015-07-01

    Full Text Available La nitrificación, la oxidación microbiana de amoníaco a nitrato, juega un papel crítico en el ciclo global del nitrógeno. Se ha considerado a dos grupos distintos de bacterias capaces de oxidar el amoníaco (AOB como las responsables de llevar a cabo el primer paso de la nitrificación; en esos dos grupos se encuentran las Beta-proteobacterias, que incluyen a los géneros Nitrosomonas y Nitrosospira, y las Gamma-proteobacterias, que engloban al género Nitrosococcus. Sin embargo, se ha demostrado la existencia de arqueas oxidantes de amoníaco (AOA y su contribución al ciclo del nitrógeno, siendo Nitrosopumilus maritimus la más estudiada en este proceso. La dinámica entre estos dos sistemas de oxidantes de amoníaco es compleja y los estudios se han enfocado a distintos hábitats, se ha propuesto que las contribuciones relativas de las comunidades AOA y AOB dependen de propiedades fisicoquímicas del ambiente, que afectan su abundancia y diversidad; esto dificulta establecer con exactitud el nicho ecológico en el que se desempeña cada comunidad. El objetivo de esta revisión es discutir la evidencia científica que facilite el entendimiento del papel que desempeñan los microorganismos oxidantes del amoníaco.

  11. Radicales libres de oxígeno y distress respiratorio agudo

    Directory of Open Access Journals (Sweden)

    Aracelis E. Dorado Lambert

    2000-09-01

    Full Text Available Se realizó una revisión acerca de la formación de radicales libres de oxígeno en el organismo, así como el aumento exagerado de su génesis durante la exposición a altas concentraciones de oxígeno y en el desarrollo de la explosión respiratoria que acompaña la fagocitosis. Se analiza además la formación de estos radicales en el pulmón durante la evolución del distress respiratorio agudo. Se abordó, posteriormente, el uso actual, sobre todo en el ámbito internacional, de los antioxidantes y bloqueadores de la lipoperoxidación para disminuir los efectos adversos de los radicales libres. A pesar de estas nuevas medidas, se corrobora que la disminución experimentada en la mortalidad por esta entidad, obedece a la optimización de los cuidados respiratorios, en especial la ventilación mecánica.The formation of free oxygen radicals in the body and the excessive increase of its genesis during exposure to high concentrations of oxygen and in the development of respiratory burst accompanying phagocytosis were reviewed. Also the formation of these radicals in lung during acute respiratory distress was analyzed. Similarly, the present use at the international level of antioxidants and lipoperoxidation blockers to diminish adverse effects of free radicals are addressed in this paper. In spite of these new measures, it was confirmed that the reduction of mortality rate from this disease was due to the improvement of respiratory care particularly the mechanical ventilation.

  12. Retrovirus endógenos humanos: Significado biológico e implicaciones evolutivas

    Directory of Open Access Journals (Sweden)

    Sentís, Carlos

    2002-05-01

    Full Text Available El genoma humano contiene un importante número de retrovirus endógenos (HERVs, es decir, secuencias derivadas de pasadas infecciones retrovirales insertadas de forma permanente; y secuencias similares se pueden observar en prácticamente todos los organismos eucariontes. Muchos de estos HERVs se transcriben y traducen en condiciones fisiológicas normales, llegando a formar partículas virales completas, y participando en procesos tan complejos como la placentación. Por su capacidad de retrotransposición y recombinación entre ellos son una fuente importante de remodelación genómica y, junto con otros retroelementos, participan en la generación de retrogenes y retropseudogenes, que suponen un sustrato de variabilidad informacional fundamental para la aparición de nuevas estructuras y funciones. Puesto que su actividad responde también a las condiciones ambientales, los cambios genómicos generados por ellos no son graduales, sino que aparecen en oleadas, de modo que se puede producir una variedad fenotípica muy extensa en momentos evolutivos concretos, coincidiendo con situaciones ambientales críticas. La consideración de los HERVs como parte integral y consustancial de nuestro genoma obliga a replantearse la utilización de vectores retrovirales en protocolos de terapia génica, así como la utilización de órganos animales -con sus propios retrovirus endógenos- para xenotrasplantes.

  13. Evaluación de patógenos en clones de lulo (Solanum quitoense Lam.

    Directory of Open Access Journals (Sweden)

    Consuelo Montes Rojas

    2010-04-01

    Full Text Available En el noroccidente de Popayán, Colombia, se evaluó la presencia de plagas causadas por patógenos en 42 clones de lulo (Solanum quitoense Lam.. Los clones fueron plantados en bolsas plásticas, donde se desarrollaron por 3 semanas antes de ser trasplantados al campo. Se utilizó un diseño de bloques completos al azar con cuatro repeticiones, la parcela útil estuvo conformada por 6 plantas, las cuales se sembraron a ‘tresbolillo’ a 2.5 m entre surcos y 2 m entre plantas. Para determinar el efecto de las plagas en el cultivo, se calculó el porcentaje de incidencia y severidad del ataque. La incidencia se evaluó como porcentaje de plantas afectadas, y la severidad como porcentaje de tejido afectado por el patógeno. Las enfermedades más limitantes para los 42 clones fueron: gota (Phytophthora infestans que provocó una mortalidad de plantas superior a 40%; fusarium (Fusarium oxysporum que se presentó en 12 de los clones evaluados; antracnosis (Colletotrichum sp. que afectó 21 clones, los cuales se clasificaron entre tolerantes y medianamente tolerantes; y mancha clorótica (Cladosporium sp. que afectó 21 clones, clasificados como susceptibles. Los clones PL19, PL24, PL11, PL35 fueron medianamente tolerantes. Se seleccionaron por supervivencia los clones: JY E1 (52.2%, PH E 1 (45.8%, VM E2 (45.8%; por supervivencia y por tolerancia a Fusarium oxysporum los clones PL35, PL11, PL24, PL8, PL19, 120052, 120043, ORE1, AGE1. Los clones SER 7, SER 15, SER 9, SEC 31, SEC 27 presentaron alta mortalidad pero se seleccionaron por ser medianamente tolerantes a gota, tolerantes a antracnosis y medianamente resistentes a nematodos, con buen vigor y producción.

  14. GenoLink: a graph-based querying and browsing system for investigating the function of genes and proteins

    Directory of Open Access Journals (Sweden)

    Divo1 Jean-Louis

    2006-01-01

    Full Text Available Abstract Background A large variety of biological data can be represented by graphs. These graphs can be constructed from heterogeneous data coming from genomic and post-genomic technologies, but there is still need for tools aiming at exploring and analysing such graphs. This paper describes GenoLink, a software platform for the graphical querying and exploration of graphs. Results GenoLink provides a generic framework for representing and querying data graphs. This framework provides a graph data structure, a graph query engine, allowing to retrieve sub-graphs from the entire data graph, and several graphical interfaces to express such queries and to further explore their results. A query consists in a graph pattern with constraints attached to the vertices and edges. A query result is the set of all sub-graphs of the entire data graph that are isomorphic to the pattern and satisfy the constraints. The graph data structure does not rely upon any particular data model but can dynamically accommodate for any user-supplied data model. However, for genomic and post-genomic applications, we provide a default data model and several parsers for the most popular data sources. GenoLink does not require any programming skill since all operations on graphs and the analysis of the results can be carried out graphically through several dedicated graphical interfaces. Conclusion GenoLink is a generic and interactive tool allowing biologists to graphically explore various sources of information. GenoLink is distributed either as a standalone application or as a component of the Genostar/Iogma platform. Both distributions are free for academic research and teaching purposes and can be requested at academy@genostar.com. A commercial licence form can be obtained for profit company at info@genostar.com. See also http://www.genostar.org.

  15. PLASTICIDAD FENOTÍPICA EN Lippia alba Y Lippia origanoides (VERBENACEAE: RESPUESTA A LA DISPONIBILIDAD DE NITRÓGENO

    Directory of Open Access Journals (Sweden)

    CARLOS ANDRÉS ANTOLINEZ-DELGADO

    2008-01-01

    Full Text Available Este trabajo comparó la plasticidad fenotípica (PF a través de la etapa vegetativa de dos especies del genero Lippia (Verbenaceae que presentan amplitud ecológica contrastante con respecto a la disponibilidad de nitrógeno. Lippia alba, especie distribuida en suelos de alta a baja disponibilidad de nitrógeno y Lippia origanoides distribuida en suelos con baja disponibilidad de nitrógeno. Nuestra hipótesis de trabajo planteó que la magnitud de la plasticidad fenotípica en estas especies podría correlacionarse con su amplitud ecológica. Treinta y cinco clones de Lippia alba y Lippia origanoides fueron asignado aleatoriamente en tres tratamientos que variaron en la disponibilidad de nitrógeno en el suelo así: 0,5; 2,5 y 5 mM. A los 25, 35, 50 y 70 días cinco clones de cada especie por tratamiento fueron colectadas. Se evaluó el numero de hojas, área foliar, fracción masa de las hojas, fracción masa de la raíz, razón raíz/parte aérea, volumen de la raíz, longitud de la raíz, masa seca total y tasa de crecimiento relativo. Los resultados indican que ambas plantas presentan una alta PF a la disponibilidad de nitrógeno; sin embargo, las normas de reacción de los caracteres estimados variaron dependiendo de la especie y la edad de la planta. Contrario a nuestra hipótesis no encontramos una correlación entre la PF y la distribución ecológica de estas especies.

  16. Purificación de antígeno de Candida albicans para pruebas cutáneas: estudio preliminar

    Directory of Open Access Journals (Sweden)

    Miriam Díaz

    1996-04-01

    Full Text Available La evaluación de la inmunidad celular mediante la respuesta producida por los linfocitos T, que son estimulados por la presencia de un antígeno determinado, es de sumo interés para el tratamiento de diversas enfermedades infecciosas que se producen durante el transcurso de quemaduras, lesiones, traumatismos, etcétera, por lo que la obtención de antígenos purificados para su uso en pruebas cutáneas que se emplean para dicha evaluación es de gran importancia. En nuestro trabajo nos dimos a la tarea de desarrollar un método de purificación para la obtención de uno de estos antígenos, a partir de la Candida albicans. El método utilizado fue el descrito por Buckley et al., al cual se le realizaron modificaciones. Se encontró que la metodología era adecuada y reproducible, pues el antígeno obtenido tenía características similares al antígeno de referencia.The assessment of cellular immunity by means of the response produced by T-lymphocytes stimulated by the presence of a determined antigen, is of great interest in the treatment of several infectious diseases during the course of burns, lesions, traumas, etc., and due to this it is very important to obtain purified antigens for their usage in the skin tests used in such assessment. The authors developed a purification method to obtain one of these antigens, from Candida albicans. They carried out modifications on the method described by Buckley et al., and found that the methodology was adequate and reproducible, since the antigen obtained had similar characteristics to those of the reference antigen.

  17. Four adult hemoglobin types in one mulatto family Quatro tipos de hemoglobina em uma família adulta de mulatos

    Directory of Open Access Journals (Sweden)

    João Targino de Araújo

    1996-06-01

    Full Text Available The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha2G-philabeta2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha268 Asn->Lys beta2 and Hb C showed alpha2beta26 Glu->Lys.A família em estudo mostrou a presença de quatro diferentes tipos de hemoglobinas. O membro da família que deu origem ao estudo (propositus foi identificado como Hb C e o híbrido com Hb CG-phila. O propositus tem três filhos todos portadores de Hb AC; nenhum membro da família apresentou sintomas clínicos. A pesquisa da hemoglobina resultou da existência de hemácias em alvo, no pré-operatório de varizes de membros inferiores. O híbrido Hb CG-phila é constituído por dois pares de genes, mas cada um com expressão inidividual, determinando a síntese e o tipo particular das subunidades. O híbrido Hb CG-phila é formado pela velocidade de combinação das subunidades alfa2G-philabeta2C assim sendo a proporção do híbrido Hb CG-phila é menor do que a Hb G-phila e Hb C. A identificação e caracterização molecular da Hb G-phila mostrou a posição alfa268 Asn->Lys beta2 a Hb C alfa2beta26 Glu->Lys.

  18. In Vitro Transcripts of Wild-Type and Fluorescent Protein-Tagged Triticum mosaic virus (Family Potyviridae) are Biologically Active in Wheat.

    Science.gov (United States)

    Tatineni, Satyanarayana; McMechan, Anthony J; Bartels, Melissa; Hein, Gary L; Graybosch, Robert A

    2015-11-01

    Triticum mosaic virus (TriMV) (genus Poacevirus, family Potyviridae) is a recently described eriophyid mite-transmitted wheat virus. In vitro RNA transcripts generated from full-length cDNA clones of TriMV proved infectious on wheat. Wheat seedlings inoculated with in vitro transcripts elicited mosaic and mottling symptoms similar to the wild-type virus, and the progeny virus was efficiently transmitted by wheat curl mites, indicating that the cloned virus retained pathogenicity, movement, and wheat curl mite transmission characteristics. A series of TriMV-based expression vectors was constructed by engineering a green fluorescent protein (GFP) or red fluorescent protein (RFP) open reading frame with homologous NIa-Pro cleavage peptides between the P1 and HC-Pro cistrons. We found that GFP-tagged TriMV with seven or nine amino acid cleavage peptides efficiently processed GFP from HC-Pro. TriMV-GFP vectors were stable in wheat for more than 120 days and for six serial passages at 14-day intervals by mechanical inoculation and were transmitted by wheat curl mites similarly to the wild-type virus. Fluorescent protein-tagged TriMV was observed in wheat leaves, stems, and crowns. The availability of fluorescent protein-tagged TriMV will facilitate the examination of virus movement and distribution in cereal hosts and the mechanisms of cross protection and synergistic interactions between TriMV and Wheat streak mosaic virus.

  19. Families and Assisted Living

    Science.gov (United States)

    Gaugler, Joseph E.; Kane, Robert L.

    2007-01-01

    Purpose: Despite growing research on assisted living (AL) as a residential care option for older adults, the social ramifications of residents' transitions to AL are relatively unexplored. This article examines family involvement in AL, including family structures of residents, types of involvement from family members living outside the AL…

  20. Diversidad y patogenicidad de especies de hongos entomopatógenos en insectos plaga de la yerba mate Ilex paraguariensis en la provincia de Misiones

    OpenAIRE

    Schapovaloff, María Elena

    2013-01-01

    Las especies de hongos entomopatógenos nativos presentan en general mayor especificidad para los hospedadores de los cuales fueron aislados originalmente y además se adaptan mejor a las condiciones ambientales del lugar de origen, que los hongos patógenos procedentes de hospedantes y lugares diferentes. El objetivo general de esta tesis es estudiar la diversidad y patogenicidad de hongos patógenos de insectos plaga de la yerba mate en la región del Noreste Argentino. Los o...

  1. Plasticidad fenotípica en lippia alba y lippia origanoides (verbenaceae): respuesta a la disponibilidad de nitrógeno

    OpenAIRE

    ANTOLINEZ-DELGADO, CARLOS ANDRÉS; RODRÍGUEZ-LÓPEZ, NELSON

    2008-01-01

    Este trabajo comparó la plasticidad fenotípica (PF) a través de la etapa vegetativa de dos especies del genero Lippia (Verbenaceae) que presentan amplitud ecológica contrastante con respecto a la disponibilidad de nitrógeno. Lippia alba, especie distribuida en suelos de alta a baja disponibilidad de nitrógeno y Lippia origanoides distribuida en suelos con baja disponibilidad de nitrógeno. Nuestra hipótesis de trabajo p...

  2. Producción de hidrógeno por reformado catalítico en fase acuosa de disoluciones de metanol. Catalizador de Platino.

    OpenAIRE

    Izquierdo Oraa, Oihane

    2015-01-01

    El objetivo que persigue la línea de investigación en la que se engloba este trabajo es la obtención de hidrógeno desde disoluciones acuosas de metanol (aproximadamente del 10% de metanol), considerando estos compuestos como una forma de almacenar hidrógeno y obtenerlo a baja temperatura “on-board” en un vehículo mediante el reformado en fase acuosa. El reto es conseguir un sistema catalítico de pequeño volumen y rápida respuesta a las demandas de hidrógeno con elevado rendimiento y calidad a...

  3. Sensibilización frente a antígenos de parásitos responsables de helmintozoonosis y artritis reumatoide

    OpenAIRE

    Díez Morrondo, María Carolina

    2012-01-01

    Las posibilidades de contacto entre personas y animales se incrementan con la tenencia de mascotas, o mediante la explotación de animales de renta, lo que favorece la exposición a determinados agentes patógenos, que pueden afectar tanto a personas como a animales y que son responsables de enfermedades que se denominan zoonosis. Es importante tener en cuenta que el contacto con estos patógenos o sus antígenos no sólo puede provocar graves alteraciones en las personas al desarrol...

  4. C7L family of poxvirus host range genes inhibits antiviral activities induced by type I interferons and interferon regulatory factor 1.

    Science.gov (United States)

    Meng, Xiangzhi; Schoggins, John; Rose, Lloyd; Cao, Jingxin; Ploss, Alexander; Rice, Charles M; Xiang, Yan

    2012-04-01

    Vaccinia virus (VACV) K1L and C7L function equivalently in many mammalian cells to support VACV replication and antagonize antiviral activities induced by type I interferons (IFNs). While K1L is limited to orthopoxviruses, genes that are homologous to C7L are found in diverse mammalian poxviruses. In this study, we showed that the C7L homologues from sheeppox virus and swinepox virus could rescue the replication defect of a VACV mutant deleted of both K1L and C7L (vK1L(-)C7L(-)). Interestingly, the sheeppox virus C7L homologue could rescue the replication of vK1L(-)C7L(-) in human HeLa cells but not in murine 3T3 and LA-4 cells, in contrast to all other C7L homologues. Replacing amino acids 134 and 135 of the sheeppox virus C7L homologue, however, made it functional in the two murine cell lines, suggesting that these two residues are critical for antagonizing a putative host restriction factor which has some subtle sequence variation in human and murine cells. Furthermore, the C7L family of host range genes from diverse mammalian poxviruses were all capable of antagonizing type I IFN-induced antiviral activities against VACV. Screening of a library of more than 350 IFN-stimulated genes (ISGs) identified interferon-regulated factor 1 (IRF1) as an inhibitor of vK1L(-)C7L(-) but not wild-type VACV. Expression of either K1L or C7L, however, rendered vK1L(-)C7L(-) resistant to IRF1-induced antiviral activities. Altogether, our data show that K1L and C7L antagonize IRF1-induced antiviral activities and that the host modulation function of C7L is evolutionally conserved in all poxviruses that can readily replicate in tissue-cultured mammalian cells.

  5. The potential impact of family history of metabolic syndrome and risk of type 2 diabetes mellitus: In a highly endogamous population

    Directory of Open Access Journals (Sweden)

    Abdulbari Bener

    2014-01-01

    Full Text Available Aim: This study aims to determine the potential impact of positive family history of Metabolic Syndrome (MetS among two generations, on developing Type 2 Diabetes Mellitus (T2DM and the potential relation of consanguineous marriage among patients with MetS to the risk of developing T2DM among a sample of Qataris. Design: A cross-sectional study. Setting: Primary healthcare (PHC centers. Materials and Methods: The survey and measurement were conducted from April 2011 to December 2012 among Qatari nationals above 20 years of age. Of the 2,182 subjects, who were approached to participate in the study, 1,552 (71% gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by anthropometric measurements and laboratory tests. Metabolic syndrome was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (ATP III as well as International Diabetes Federation (IDF. Results: Overall, the prevalence of MetS was 26.2% according to ATP III and 36.9% according to IDF (P < 0.0001. The mean age of MetS patients with T2DM was significantly higher than those without T2DM (Mean 48 ± 9.9 vs. 42.5 ± 9.2; P < 0.001. The proportion of females was higher among MetS patients with T2DM as compared to those without T2DM (61% vs. 51%; P = 0.053. In addition, there were significant differences between MetS patients with and without DM in terms of co-morbidities of hypertension, coronary heart disease, and high cholesterol. The proportion of MetS patients with positive family history for MetS was significantly higher in MetS patients with T2DM as compared to those without T2DM (46.7% vs. 33.8%; P = 0.009. The proportion of positive family history of MetS among fathers (35% vs. 21.9%; P = 0.005, mothers (30.5% vs. 18.8%; P = 0.008, maternal aunt (18.3% vs. 11.2%; P = 0.055, and maternal grand father (19.5% vs. 10%; P = 0.010 were significantly higher in MetS patients with T2DM as compared to the

  6. The family Coriobacteriaceae is a potential contributor to the beneficial effects of Roux-en-Y gastric bypass on type 2 diabetes.

    Science.gov (United States)

    Liu, Haijun; Zhang, Hong; Wang, Xiao; Yu, Xuemei; Hu, Cheng; Zhang, Xueli

    2018-01-17

    Changes in gut microbiota induced by bariatric surgery have been associated with metabolic benefits. Our aim was to identify specific gut microbiota that may contribute to the improvement of type 2 diabetes (T2D) after Roux-en-Y gastric bypass (RYGB). Laboratories of Shanghai Diabetes Institute and Shanghai Sixth People's Hospital. Diabetic rats induced via a high-fat diet and low-dose streptozotocin administration were randomized to RYGB or sham surgery, and stool samples were collected at baseline and at postoperative week 8. The fecal microbiota was profiled using 16S ribosomal RNA gene sequencing. Additionally, we performed a case-control study of the gut microbial community profiles of T2D patients compared with those of healthy individuals via 16S ribosomal RNA gene sequencing of mucosal-luminal interface samples collected from the ascending colon during colonoscopy. RYGB significantly reduced the weight and improved glucose tolerance and insulin sensitivity in diabetic rats. Principal coordinate analysis showed that RYGB caused marked alterations in the gut microbiota. The RYGB group was postoperatively enriched for Bacteroidetes, Proteobacteria, Fusobacteria, and Actinobacteria, whereas the sham surgery group was enriched for Firmicutes and Verrucomicrobia. Based on the gut microbial patterns in the T2D patients, we found that the family Coriobacteriaceae within Actinobacteria might contribute to the beneficial effects of RYGB on T2D. RYGB significantly improves glucose metabolism and alters the gut microbiota. Moreover, the family Coriobacteriaceae may partly mediate the beneficial effects of RYGB on T2D and thus possibly contribute to the development of novel bacteria-based therapeutic approaches. Copyright © 2018 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

  7. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  8. Los roedores y lagomorfos del Neógeno de España

    Directory of Open Access Journals (Sweden)

    Sesé, C.

    2006-12-01

    most part of the Miocene, and their homogeinity at the end of the Miocene and during the Pliocene with the southern France in the so called Ibero-Occitanian province. It has been also indicated the main paleoenvironmental changes inferred from the micromammal faunal changes, mainly those that have been related with global changes.Los estudios realizados desde mediados del siglo pasado en España por muchos autores sobre las faunas de micromamíferos, han dado lugar a que actualmente haya un buen conocimiento del registro fósil del Neógeno español. Trabajos de síntesis anteriores a éste, como los de mamíferos del Neógeno realizados por López et al. (1987 y Calvo et al. (1993, el de roedores por Sesé (1988 y el de lagomorfos por López (1989, muestran la extraordinaria riqueza fosilífera de las diversas áreas geográficas y cuencas españolas (Ebro, Tajo, Calatayud-Teruel, Duero, Vallés Penedés, Levante, Béticas. En el presente trabajo se realiza una síntesis de revisión y actualización del registro fósil de roedores (orden Rodentia y lagomorfos (orden Lagomorpha del Neógeno (Mioceno y Plioceno en España, principalmente de la península que es donde se han realizado más hallazgos, pero también de algunos realizados en las islas. Se han analizado, desde los puntos de vista sistemático y biostratigráfico principalmente, las faunas de los yacimientos neógenos que presentan taxones característicos de la edad que se les asigna. El orden de presentación de este análisis es, en un primer nivel, por pisos o edades de mamíferos, dando las características más importantes de los mismos, y, en un segundo nivel, analizando los aspectos más característicos de las faunas de las biozonas que comprende cada uno. Los pisos a que nos referimos son: en el Mioceno, la base del Mioceno Inferior, Rambliense, Aragoniense, Vallesiense y Turoliense, y, en el Plioceno, el Rusciniense (Alfambriense y Villaniense. En cuanto a las zonas, para el Mioceno seguimos la

  9. The EPIC Kids Study: a randomized family-focused YMCA-based intervention to prevent type 2 diabetes in at-risk youth.

    Science.gov (United States)

    Hingle, Melanie D; Turner, Tami; Kutob, Randa; Merchant, Nirav; Roe, Denise J; Stump, Craig; Going, Scott B

    2015-12-18

    It is well established that behavioral lifestyle interventions resulting in modest weight reduction in adults can prevent or delay type 2 diabetes mellitus; however in children, successful weight management interventions are rarely found outside of controlled clinical settings. The lack of effective community-based programs is a barrier to reducing obesity prevalence and diabetes risk in children. The objective of our study is to develop and test a group-randomized family-centered community-based type 2 diabetes prevention intervention targeting at-risk children, 9- to 12-years-old. Using participatory methods, the adult-focused YMCA Diabetes Prevention Program was adapted for families, creating a novel lifestyle behavior change program focused on healthy eating, physical activity, and a supportive home environment. The program will be tested in sixty 9- to 12-year-old children at risk of diabetes and sixty parents over 12 consecutive weeks with two intervention formats randomized by location: a face-to-face instructor-led program, or a hybrid program with alternating face-to-face and mobile technology-delivered content. Anthropometric, behavioral, psychosocial and physiological outcomes will be assessed at baseline, post-intervention (12 weeks), and follow-up (24 weeks). Secondary outcomes are participant acceptability, feasibility, and adherence. The RE-AIM framework (reach, efficacy, adoption, implementation, and maintenance) will guide intervention implementation and evaluation. Changes at 12 weeks will be assessed using a paired t-test combining both delivery formats. Exploratory models using linear regression analysis will estimate the magnitude of the difference between the face-to-face and hybrid format. The sample size of 60 children, informed by a previous YMCA intervention in which -4.3 % change in overweight (SE = 1.1) was observed over 6 months, will give us 80 % power to detect an effect size of this magnitude, assuming a one-sided test at alpha

  10. Psychosocial family factors and glycemic control among children aged 1-15 years with type 1 diabetes: a population-based survey

    Directory of Open Access Journals (Sweden)

    Haugstvedt Anne

    2011-12-01

    Full Text Available Abstract Background Being the parents of children with diabetes is demanding. Jay Belsky's determinants of parenting model emphasizes both the personal psychological resources, the characteristics of the child and contextual sources such as parents' work, marital relations and social network support as important determinants for parenting. To better understand the factors influencing parental functioning among parents of children with type 1 diabetes, we aimed to investigate associations between the children's glycated hemoglobin (HbA1c and 1 variables related to the parents' psychological and contextual resources, and 2 frequency of blood glucose measurement as a marker for diabetes-related parenting behavior. Methods Mothers (n = 103 and fathers (n = 97 of 115 children younger than 16 years old participated in a population-based survey. The questionnaire comprised the Life Orientation Test, the Oslo 3-item Social Support Scale, a single question regarding perceived social limitation because of the child's diabetes, the Relationship Satisfaction Scale and demographic and clinical variables. We investigated associations by using regression analysis. Related to the second aim hypoglycemic events, child age, diabetes duration, insulin regimen and comorbid diseases were included as covariates. Results The mean HbA1c was 8.1%, and 29% had HbA1c ≤ 7.5%. In multiple regression analysis, lower HbA1c was associated with higher education and stronger perceptions of social limitation among the mothers. A higher frequency of blood glucose measurement was significantly associated with lower HbA1c in bivariate analysis. Higher child age was significantly associated with higher HbA1c both in bivariate and multivariate analysis. A scatterplot indicated this association to be linear. Conclusions Most families do not reach recommended treatment goals for their child with type 1 diabetes. Concerning contextual sources of stress and support, the families who

  11. Terapia com surfactante pulmonar exógeno em pediatria Exogenous surfactant therapy in pediatrics

    Directory of Open Access Journals (Sweden)

    Norberto A. Freddi

    2003-11-01

    Full Text Available OBJETIVO: Revisar o estágio atual do conhecimento sobre a utilização do surfactante exógeno nas diferentes doenças pulmonares que levam à insuficiência respiratória aguda em crianças. FONTES DOS DADOS: Este manuscrito baseia-se na experiência clínica dos autores sobre o assunto e na revisão da literatura recente através de consulta aos bancos de dados ONIA, Mdconsult, Medline e Cochrane Database Library. SÍNTESE DOS DADOS: Apesar do sucesso obtido com a utilização do surfactante exógeno na síndrome de desconforto respiratório do recém-nascido, questões permanecem indefinidas, como o momento do seu emprego, muito precoce (profilático, baseado na idade gestacional ou em testes rápidos de maturidade pulmonar, ou então mais tardiamente, após o quadro clínico instalado. Em outras patologias graves que levam à insuficiência respiratória grave com necessidade de suporte ventilatório, o seu uso ainda é controverso, e os dados da literatura são limitados e conflitantes. Porém, relatos de uso clínico em várias destas situações, com sucesso, têm sido freqüentes. A pesquisa em surfactante tem-se centrado ultimamente na sua inativação por várias substâncias que podem estar presentes na via aérea. Nas patologias em que a inativação parece ser um fator importante, novos surfactantes com adição de adjuvantes para reverter a tendência à inativação (por exemplo: polietilenoglicol estão atualmente em fase de testes. CONCLUSÕES: A terapia com surfactante exógeno ainda não é um tema esgotado, nem mesmo na SDR. Os surfactantes podem ser ainda aperfeiçoados, sobretudo para resistir à inibição, e as formas de utilização em outras doenças que não a SDR deverão ser aperfeiçoadas.OBJECTIVE: To review current knowledge about the use of exogenous surfactants in the treatment of different lung diseases causing acute respiratory failure in children. SOURCE OF DATA: This review is based on the authors

  12. Vacuna atenuada de Salmonella como vector de antígenos heterólogos

    Directory of Open Access Journals (Sweden)

    Oscar G. Gómez

    2000-06-01

    Full Text Available Salmonella enterica, serotipo Typhi, es el agente etiológico de la fiebre tifoidea de los habitantes de las regiones más pobres del mundo y es, además. el centro de atención de muchos investigadores dados sus fascinantes mecanismos de invasión, multiplicación intracelular y diseminación intercelular que expresa in vivo e in vitro. Aunque estos mecanismos se asocian directamente con la patogenicidad y la severidad de la enfermedad, las mutaciones definidas en el cromosoma de Salmonella han permitido que estos mecanismos de virulencia se puedan utilizar en beneficio del hospedero. Las mutantes atenuadas de Salmonella son capaces de invadir las células M de la mucosa intestinal y de migrar a las células linfoides del sistema reticuloendotelial donde, en lugar de causar enfermedad, activan eficazmente las respuestas inmunes humoral y celular no sólo contra el microorganismo mismo sino también contra aquellos antigenos heterólogos recombinantes que la bacteria pueda expresar y transportar. En la presente revisión, se discutirán los avances más recientes en el campo de las vacunas vivas atenuadas de Salmonella, su evaluación preclinica y clinica y, también, su aplicación como vector de antigenos. Se darán a conocer las técnicas biomoleculares de clonación y expresión procariótica de las toxinas diftérica, tetánica y de pertusis. así como de los antígenos de Helicobacterpylori y de Plasmodium falciparum. Finalmente, se propone el uso de Salmonella atenuada como vector de vacunas de ADN para expresión eucariótica de los antígenos recombinantes. Los continuos esfuerzos cientificos y tecnológicos en el campo de la vacunación con vectores vivos atenuados sugieren que Salmonella es una herramienta potencialmente útil para enfrentar el constante reto de la fiebre tifoidea. Igualmente, los estudios preclínicos y clínicos de fase I demuestran la eficacia de la vacuna de Salmonella viva atenuada como vector de antígenos heter

  13. Plesiomonas shigelloides: um enteropatógeno emergente?

    Directory of Open Access Journals (Sweden)

    J. P. FALCãO

    2009-01-01

    Full Text Available

    Plesiomonas shigelloides é um bacilo Gram-negativo, pertencente à família Enterobacteriaceae, isolado de água doce e salgada, de peixes de água doce, mariscos e de inúmeros tipos de animais. Suspeita-se que a maioria das infecções humanas causadas por P. shigelloides, seja veiculada pela água, pois a bactéria está presente em águas não tratadas que são usadas para beber, águas recreacionais ou água para lavar alimentos que são consumidos sem cozimento ou aquecimento. A ingestão de P. shigelloides não causa sempre doença no animal hospedeiro, mas o microrganismo pode permanecer temporariamente como membro transitório não infeccioso da microbiota intestinal. A bactéria é isolada de fezes de pacientes com diarréia, mas algumas vezes também de fezes de indivíduos sem sintomas. A doença causada por P. shigelloides é a gastrenterite, que normalmente é auto-limitante, com febre, calafrio, dor abdominal, náusea, diarréia ou vômito. Em casos graves, as fezes diarréicas podem ser verde-amareladas, espumosas e com presença de sangue. A bactéria pode também causar infecções extra-intestinais. Ademais, pode produzir toxinas e ser invasora. As características utilizadas para considerar P. shigelloides como um enteropatógeno não são totalmente convincentes. Embora seja isolada de pacientes com diarréia e incriminada em vários surtos epidêmicos envolvendo água e alimentos contaminados, não foi possível identificar em muitas amostras de P. shigelloides, associadas com infecções gastrintestinais, um mecanismo de virulência definitivo. Palavras-chave: P. shigelloides; enteropatógeno; gastrenterite; diarréia; infecções extra-intestinais.

  14. DETERMINACIÓN RÁPIDA Y PRECISA DEL CONTENIDO DE HIDRÓGENO EN MEZCLAS DE HIDROCARBUROS POR RMN 1H

    Directory of Open Access Journals (Sweden)

    Eliseo Avella

    2011-12-01

    Full Text Available Se presentan y discuten resultados de ladeterminación de hidrógeno en mezclasde hidrocarburos y de fracciones pesadasde petróleo por integración de las señalesen sus espectros RMN 1H de alta resolución.Los resultados muestran la posibilidadde cuantificar de manera rápida yprecisa el hidrógeno en 37 fragmentosestructurales, además del hidrógeno totalen la muestra, mediante aplicación deintervalos de integración unificados. Adiferencia de los métodos publicados enla literatura, la determinación de hidrógenoes posible con menor cantidad demuestra en disolución, con corto tiempode reciclado, d1, sin ajustes estrictos detemperatura ni adición de agente de relajacióno uso de algún estándar de cuantificaciónexterno.

  15. Cálculos electrónicos de la disociación de hidrógeno en nanopartículas de cobalto

    OpenAIRE

    Fernández Fernández, Julio

    2017-01-01

    El dopado de materiales porosos con átomos metálicos, clúster y nanopartículas está siendo visto como una forma de mejorar el almacenamiento de hidrógeno en estos materiales. Por esta razón, presento un estudio teórico de la interacción del hidrógeno molecular con un clúster de 13 átomos de cobalto. La adsorción del hidrógeno en el clúster lleva a dos tipos de estados. Por una parte, el estado más simple es un estado activado del hidrógeno molecular. Por otra parte, el segundo tipo es un esta...

  16. Remoción de nitrógeno de lixiviados de un relleno sanitario mediante un sistema pasivo biológico secuencial.

    OpenAIRE

    Suárez García, Edgar; Cardona Gallo, Santiago Alonso

    2013-01-01

    Se estudio la eficiencia de un sistema pasivo de biopelícula anaerobio-aerobio para la remoción de nitrógeno. Se caracterizaron los lixiviados de un relleno sanitario con elevadas concentraciones de nitrógeno amoniacal, Diversas tecnologías se han aplicado para la remoción de nitrógeno, puede lograrse en sistemas con arrastre con aire, lo cual incrementa los costos elevados de operación. En este trabajo se evaluó la capacidad de remoción de nitrógeno con la implementación de un diseño innovad...

  17. Removal of a frameshift between the hsdM and hsdS genes of the EcoKI Type IA DNA restriction and modification system produces a new type of system and links the different families of Type I systems

    Science.gov (United States)

    Roberts, Gareth A.; Chen, Kai; Cooper, Laurie P.; White, John H.; Blakely, Garry W.; Dryden, David T. F.

    2012-01-01

    The EcoKI DNA methyltransferase is a trimeric protein comprised of two modification subunits (M) and one sequence specificity subunit (S). This enzyme forms the core of the EcoKI restriction/modification (RM) enzyme. The 3′ end of the gene encoding the M subunit overlaps by 1 nt the start of the gene for the S subunit. Translation from the two different open reading frames is translationally coupled. Mutagenesis to remove the frameshift and fuse the two subunits together produces a functional RM enzyme in vivo with the same properties as the natural EcoKI system. The fusion protein can be purified and forms an active restriction enzyme upon addition of restriction subunits and of additional M subunit. The Type I RM systems are grouped into families, IA to IE, defined by complementation, hybridization and sequence similarity. The fusion protein forms an evolutionary intermediate form lying between the Type IA family of RM enzymes and the Type IB family of RM enzymes which have the frameshift located at a different part of the gene sequence. PMID:23002145

  18. Removal of a frameshift between the hsdM and hsdS genes of the EcoKI Type IA DNA restriction and modification system produces a new type of system and links the different families of Type I systems.

    Science.gov (United States)

    Roberts, Gareth A; Chen, Kai; Cooper, Laurie P; White, John H; Blakely, Garry W; Dryden, David T F

    2012-11-01

    The EcoKI DNA methyltransferase is a trimeric protein comprised of two modification subunits (M) and one sequence specificity subunit (S). This enzyme forms the core of the EcoKI restriction/modification (RM) enzyme. The 3' end of the gene encoding the M subunit overlaps by 1 nt the start of the gene for the S subunit. Translation from the two different open reading frames is translationally coupled. Mutagenesis to remove the frameshift and fuse the two subunits together produces a functional RM enzyme in vivo with the same properties as the natural EcoKI system. The fusion protein can be purified and forms an active restriction enzyme upon addition of restriction subunits and of additional M subunit. The Type I RM systems are grouped into families, IA to IE, defined by complementation, hybridization and sequence similarity. The fusion protein forms an evolutionary intermediate form lying between the Type IA family of RM enzymes and the Type IB family of RM enzymes which have the frameshift located at a different part of the gene sequence.

  19. WtsE, an AvrE-family type III effector protein of Pantoea stewartii subsp. stewartii, causes cell death in non-host plants.

    Science.gov (United States)

    Ham, Jong Hyun; Majerczak, Doris; Ewert, Sophie; Sreerekha, Mysore-Venkatarau; Mackey, David; Coplin, David

    2008-09-01

    Pantoea stewartii subsp. stewartii (Pnss) causes Stewart's bacterial wilt of sweet corn and leaf blight of maize. The pathogenicity of Pnss depends on synthesis of extracellular polysaccharide and an Hrp type III secretion system. WtsE, a type III secreted effector protein, is essential for the virulence of Pnss on corn. It belongs to the AvrE family of effectors, which includes DspA/E from Erwinia amylovora and AvrE1 from Pseudomonas syringae. Previously, WtsE was shown to cause disease-associated cell death in its host plant, sweet corn. Here, we examine the biological activity of WtsE in several non-host plants. WtsE induced cell death in Nicotiana benthamiana, tobacco, beet and Arabidopsis thaliana when it was transiently produced in plant cells following agroinfiltration or translocated into plant cells from Pnss, Escherichia coli or Pseudomonas syringae pv. phaseolicola (Pph). WtsE-induced cell death in N. benthamiana, tobacco and beet resembled a hypersensitive response and in N. benthamiana it was delayed by cycloheximide. Interestingly, WtsE strongly promoted the growth of Pnss in N. benthamiana prior to the onset of cell death. Deletion derivatives of WtsE that failed to induce cell death in N. benthamiana and tobacco also did not complement wtsE mutants of Pnss for virulence in sweet corn, indicating a correlation between the two activities. WtsE also induced cell death in A. thaliana, where it suppressed basal defences induced by Pph. Thus, WtsE has growth-promoting, defence-suppressing and cell death-inducing activities in non-host plants. Expression of WtsE also prevented the growth of yeast, possibly due to an innate toxicity to eukaryotic cells.

  20. Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus.

    Science.gov (United States)

    Zouk, H; D'Hennezel, E; Du, X; Ounissi-Benkalha, H; Piccirillo, C A; Polychronakos, C

    2014-03-01

    The type 1 diabetes-associated 16p13 locus contains the CLEC16A gene. Its preferential immune cell expression suggests involvement in autoimmunity. Given its elevated expression in dendritic and B cells - known professional antigen-presenting cells (APCs) - we hypothesize that C-type lectin domain family 16 member A (CLEC16A) may be involved in T cell co-stimulation and consequent activation and proliferation. We also sought to identify CLEC16A's subcellular localization. The effect of the CLEC16A knock-down (KD) on B cell co-stimulation and activation of T cells was tested in human lymphoblastoid cell lines (LCLs) by co-culture with CD4(+) T cells. T cell activation and proliferation were determined by flow-cytometric analysis of CD69 and CD25 expression and carboxyfluorescein succinimidyl ester (CFSE) dilution, respectively. CLEC16A subcellular localization in K562 cells was examined by immunofluorescence. We show that the CLEC16A KD did not affect the tested indices of lymphoblastoid cell line (LCL) APC capacity. Additionally, the percentage of activated T cells following LCL co-culture was not affected significantly by the CLEC16A KD. T cells co-cultured with KD or control LCLs also exhibited similar cell division profiles. CLEC16A co-localized with an endoplasmic reticulum (ER) marker, suggesting that it may be an ER protein. In conclusion, CLEC16A may not be involved in T cell co-stimulation. Additional studies on CLEC16A, accounting for its ER localization, are needed to uncover its biological role. © 2013 British Society for Immunology.

  1. Diagnóstico de polineuropatía amiloidótica familiar tipo I en la Argentina Diagnosis of familial amyloid polyneuropathy type I in Argentina

    Directory of Open Access Journals (Sweden)

    Gladys Pérez

    2008-08-01

    transthyretin (TTR the principal component of amyloid fibrils. TTR is a normal plasma protein (previously called prealbumin that functions as a transport protein binding tiroxine and retinol. Among many mutations that have been found in the TTR gene, the variant with a single amino acid substitution of methionine for valine at position 30 (TTR Val30Met is the responsible of the Portuguese-type Familial Amyloidotic Polyneuropathy (FAP Type I. Interest in this pathology has arisen in Argentina because of the finding of an endemic area where a group of Portuguese immigrant families is localized. Since liver transplantation is a widely accepted treatment because it results in the disappearance of variant transthyretin from plasma, an early detection of the altered gene is essential. Thus, the objective of the present work was to optimize a methodology to detect the Val30Met mutation introducing modifications into techniques that were previously developed. The simple method here described is useful to confirm the diagnosis of the potential disease and, therefore, make it possible for patients to gain access to early liver transplantation.

  2. Eliminación catalítica de óxidos de nitrógeno

    OpenAIRE

    Lick, Ileana Daniela

    2004-01-01

    Se denomina smog a la niebla o dispersión coloidal de un líquido en aire, altamente tóxica por su elevada concentración en óxidos de azufre y nitrógeno, los que le confieren características ácidas por la presencia de los ácidos sulfúrico y nítrico. El pH de estas nieblas puede llegar a valores de 2. Las nieblas producidas por las reacciones fotoquímicas son llamadas comúnmente smog fotoquímico. El mismo se forma por la presencia de hidrocarburos y όxidos de nitrógeno en presencia de la luz so...

  3. Balance de nitrógeno y digestibilidad energética en ratas alimentadas con manteca de freidura

    Directory of Open Access Journals (Sweden)

    Jiménez, S.

    1992-06-01

    Full Text Available This study was carried out during 90 days in order to know the effect of frying lard on the energy digestibility and nitrogen bioavailability. A significant decrease occurred on energy utilization of the diets prepared with frying lard (52 frying times. Nitrogen bioutilization on growing rats was also affected.

    Se realiza un estudio de 90 días de duración en ratas con el fin de conocer posibles efectos de las grasas de freidura sobre el coeficiente de digestibilidad energética y la biodisponibilidad del nitrógeno. Se observó una disminución de la utilización de la energía de la dieta con el consumo reiterado de grasas con 52 freiduras y se encontró afectada la bioutilización del nitrógeno del organismo en crecimiento.

  4. Reprodutibilidade e estabilidade de antígenos preparados de culturas de Trypanosoma cruzi para reações de fixação do complemento

    Directory of Open Access Journals (Sweden)

    José Oliveira de Almeida

    1978-12-01

    Full Text Available Antígenos preparados de culturas de Trypanosoma cruzi foram experimentados com um sôro chagásico de referência, em reações quantitativas de fixação do complemento. Quatro deles foram liofilizados em pequenos volumes e mantidos em geladeira. Um outro foi mantido em estado líquido, com az ida sódica e a 3-6º C. Os títulos do complexo-imune, em termos de sôro ou de antígeno foram determinados como a inclinação da linha de regressão traçada quando se projetam as quantidades de complexo (em termos de sôro ou de antígeno necessárias para 50% de hemólise contra o número de unidades de complemento usadas na reação. Dividindo-se o título do antígeno pelo título do sôro, obtem-se um índice de reatividade específica (I.R.E., que informa sobre a reprodutibilidade e estabilidade do antígeno. Examinando os antígenos, de frascos colhidos ao acaso, verificou-se que os antígenos B.W. 89 e CDC 10-75 apresentaram um I.R.E. com pequena diferença entre as amostras, enquanto maior variação foi observada com os antígenos B.W. 105 e 760130. Antígenos reconstituídose mantidos em geladeira, até oito meses, perdiam lentamente sua capacidade reativa, com exceção do antígeno B.W. 89 e CDC 10-75. Os dados sugerem que o uso de antígenos de para reações de fixação do complemento devem ser empregados quando reconstituídos, evitando-se sua manutenção em estado líquido, pela queda do seu poder fixador.

  5. A Family of Salmonella Type III Secretion Effector Proteins Selectively Targets the NF-κB Signaling Pathway to Preserve Host Homeostasis.

    Science.gov (United States)

    Sun, Hui; Kamanova, Jana; Lara-Tejero, Maria; Galán, Jorge E

    2016-03-01

    Microbial infections usually lead to host innate immune responses and inflammation. These responses most often limit pathogen replication although they can also result in host-tissue damage. The enteropathogenic bacteria Salmonella Typhimurium utilizes a type III secretion system to induce intestinal inflammation by delivering specific effector proteins that stimulate signal transduction pathways resulting in the production of pro-inflammatory cytokines. We show here that a family of related Salmonella Typhimurium effector proteins PipA, GogA and GtgA redundantly target components of the NF-κB signaling pathway to inhibit transcriptional responses leading to inflammation. We show that these effector proteins are proteases that cleave both the RelA (p65) and RelB transcription factors but do not target p100 (NF-κB2) or p105 (NF-κB1). A Salmonella Typhimurium strain lacking these effectors showed increased ability to stimulate NF-κB and increased virulence in an animal model of infection. These results indicate that bacterial pathogens can evolve determinants to preserve host homeostasis and that those determinants can reduce the pathogen's virulence.

  6. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients

    Science.gov (United States)

    An, Omer; Gursoy, Attila; Gurgey, Aytemiz; Keskin, Ozlem

    2013-01-01

    Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus-infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism resulting in a rare but fatal disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL2). Here we report a comprehensive in silico structural analysis of a collection of 76 missense perforin mutations based on a proposed pore model. In our model, perforin monomers oligomerize having cyclic symmetry in consistent with previously found experimental constraints yet having flexibility in the size of the pore and the number of monomers involved. Clusters of the mutations on the model map to three distinct functional regions of the perforin. Calculated stability (free energy) changes show that the mutations mainly destabilize the protein structure, interestingly however, A91V polymorphism, leads to a more stable one. Structural characteristics of mutations help explain the severe functional consequences on perforin deficient patients. Our study provides a structural approach to the mutation effects on the perforin oligomerization and impaired cytotoxic function in FHL2 patients. PMID:23592409

  7. Psychological trauma symptoms and Type 2 diabetes prevalence, glucose control, and treatment modality among American Indians in the Strong Heart Family Study.

    Science.gov (United States)

    Jacob, Michelle M; Gonzales, Kelly L; Calhoun, Darren; Beals, Janette; Muller, Clemma Jacobsen; Goldberg, Jack; Nelson, Lonnie; Welty, Thomas K; Howard, Barbara V

    2013-01-01

    The aims of this paper are to examine the relationship between psychological trauma symptoms and Type 2 diabetes prevalence, glucose control, and treatment modality among 3776 American Indians in Phase V of the Strong Heart Family Study. This cross-sectional analysis measured psychological trauma symptoms using the National Anxiety Disorder Screening Day instrument, diabetes by American Diabetes Association criteria, and treatment modality by four categories: no medication, oral medication only, insulin only, or both oral medication and insulin. We used binary logistic regression to evaluate the association between psychological trauma symptoms and diabetes prevalence. We used ordinary least squares regression to evaluate the association between psychological trauma symptoms and glucose control. We used binary logistic regression to model the association of psychological trauma symptoms with treatment modality. Neither diabetes prevalence (22%-31%; p=0.19) nor control (8.0-8.6; p=0.25) varied significantly by psychological trauma symptoms categories. However, diabetes treatment modality was associated with psychological trauma symptoms categories, as people with greater burden used either no medication, or both oral and insulin medications (odds ratio=3.1, ppsychological trauma symptoms suggests future research investigate patient and provider treatment decision making. © 2013.

  8. Ocorrência de patógenos em cultivos de melancia e abóbora no sertão da Paraíba

    Directory of Open Access Journals (Sweden)

    M. G. F. O. Soares

    2016-01-01

    Full Text Available Por constituírem uma importante fonte de alimento, plantações de melancia e abóbora são comumente cultivadas no sertão paraibano, porém pouco se sabe sobre a ocorrência de patógenos causadores de doenças, os quais limitam a sua produtividade e renda aos produtores. Visando obter informações sobre a ocorrência dos patógenos virais e fúngicos em cultivos de abóbora e melancia situados em municípios produtores no sertão da Paraíba, amostras coletadas com sintomas de mosaico e deformação foliar, típicos de doenças virais foram analisadas pela técnica sorológica “enzime linked immuno sorbentassay” (Elisa indireto para Papaya ring spot virus, type watermelon (PRSV-W, Watermelon mosaic virus (WMV, Zucchini yellow mosaic virus (ZYMV e Cucumber mosaic virus (CMV. O teste de dupla difusão em Agar foi utilizado para verificar a presença de Squash mosaic virus (SqMV. Em contrapartida, amostras coletadas com sintomas de doenças fúngicas foram analisadas pelo isolamento do patógeno e visualização de suas características morfológicas em microscópio óptico. Em abóbora, houve prevalência dos vírus ZYMV e PRSV-W em infecções simples e mistas, e maior incidência dos fungos Cladosporium spp., e Alternaria spp. Em melancia detectou-se infecção simples e mistas das espécies PRSV-W, WMV e ZYMV, e maior freqüência de Fusarium spp. e Alternaria spp.. Não foram detectados os vírus CMV e SqMV. Os resultados obtidos revelam a ocorrência de vários patógenos fúngicos e viróticos em cultivos de abóbora e melancia situados no sertão da Paraíba e ressaltam a importância da utilização de estratégias de manejo que reduzem os danos ocasionados por esses patógenos.Occurrence of pathogens in watermelon and pumpkin crops in the State of ParaibaAbstract: By constitute an important food source, watermelon and pumpkin plantations are commonly grown on Paraíba backlands, but little is known about the occurrence of disease

  9. High degree of concordance between flow cytometry and geno2pheno methods for HIV-1 tropism determination in proviral DNA

    OpenAIRE

    Torres, Alex José Leite; Brígido, Luis Fernando de Macedo; Abrahão, Marcos Herculano Nunes; Angelo, Ana Luiza Dias; Ferreira, Gilcivaldo de Jesus; Coelho, Luana Portes; Ferreira, João Leandro; Jorge, Célia Regina Mayoral Pedroso; Martins Netto, Eduardo; Brites, Carlos

    2015-01-01

    Use of CCR5 antagonists requires previous viral tropism determination. The available methods have high cost, are time-consuming, or require highly trained personnel, and sophisticated equipment. We compared a flow cytometry-based tropism assay with geno2pheno method to determine HIV-1 tropism in AIDS patients, in Bahia, Brazil. We tested peripheral blood mononuclear cells of 102 AIDS patients under antiretroviral therapy by using a cytometry-based tropism assay and geno2pheno assay. Cellular m...

  10. Poblaciones bacterianas utilizadoras de hidrógeno presentes en el tracto gastrointestinal del avestruz (Struthio camelus Var. Domesticus

    Directory of Open Access Journals (Sweden)

    J. M. Miramontes-Carrillo

    2008-01-01

    Full Text Available Tres grupos de bacterias compiten por hidrógeno en diferentes ecosistemas anaerobios, y junto con CO 2 , producen metano, sulfuro dehidrógeno y acetato. Estas reacciones representan ganancia de energía al animal. Motivo por el cual, el presente trabajo pretende evaluar la presencia y tamaño de poblaciones de bacterias utilizadoras de hidrógeno en el tracto gastrointestinaldel avestruz. Para ello se utilizaron medios AC11 para acetogénicas, Potgate para sulfato-reductoras y Fosfato buffer para metanogénicas. Las poblaciones se determinaron por el método del número más probable (NMP. El diseño fue completamente al azar, con arreglo factorial, A = porciones del tracto digestivo y B = microorganismo. El NMP, de acetogénicas y metanogénicas fue cero. Las bacterias sulfato-reductoras están presentes en todo el tracto gastrointestinal. Las poblaciones fueron 544.00; 532.00; 157.20; 155.32 y 76.48 x 10/ 6 para el intestino grueso, ciegos, intestino delgado, proventrículo y ventrículo, respectivamente. Los resultados confirman presencia y predominio de las sulfato-reductoras en todas las porciones del tracto gastrointestinal del Struthio camelus. La producción de AGV en el tracto gastrointestinal del avestruz, es producto del metabolismo y reutilización del hidrógeno por bacterias sulfato-reductoras.

  11. Evaluación de la respuesta de anticuerpos hacia antígenos de Pseudomonas aeruginosa.

    Directory of Open Access Journals (Sweden)

    Aniel Moya

    2007-04-01

    Full Text Available Pseudomonas aeruginosa es un patógeno extracelular que genera una respuesta de anticuerpos específicos con utilidad para el diagnóstico y vacunas. En el presente estudio nos propusimos evaluar en suero humano los niveles de anticuerpos contra antígenos relevantes de P. aeruginosa. Realizamos la determinación de anticuerpos IgG contra tres exoenzimas, consideradas como factores de virulencia de mayor importancia en infecciones. Este resultado dio paso a la evaluación del reconocimiento de IgG e IgA hacia antígenos de la envoltura celular bacteriana por ELISA de células enteras. Todos los sueros evaluados mostraron títulos de IgG e IgA superiores a los individuos sanos, con excepción de dos muestras de pacientes que no mostraron alto título. Este ensayo permitió analizar el nivel de reconocimiento hacia los antígenos más expuestos de la bacteria que incluyen principalmente LPS y proteínas de membrana externa. Se encontró diferencias entre los valores de densidad óptica a 450 nm de individuos sanos y enfermos. El método usado permitió seleccionar dos sueros de pacientes de diferentes tipos de infecciones que fueron comparados por Western blot. Se observó que aunque los sueros tenían reacción hacia distintos serotipos de P. aeruginosa, la intensidad del reconocimiento variaba según el tipo de infección.

  12. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  13. Sensibilización de placas para ensayos inmunoenzimáticos con antígenos vacunales

    Directory of Open Access Journals (Sweden)

    Rolando Ochoa

    2001-12-01

    Full Text Available Se describe un procedimiento de sensibilización de placas para ensayos inmunoenzimáticos (ELISA con antígenos vacunales. Se define como concentración óptima de sensibilización aquella donde se alcanza la mayor densidad óptica con los sueros estándares y la menor con los sueros negativos y el blanco reactivo. Como modelo se emplean ensayos indirectos correspondientes a los antígenos de captura: toxoide tetánico, diftérico y la vesícula de membrana externa de meningococo B, materia prima activa de la vacuna antimeningocócica VA-MENGOC-BC. Esta metodología permite alcanzar un mayor recubrimiento de la fase sólida, lo cual incrementa la sensibilidad de los ensayos. La ocupación de espacios libres en la placa se hizo más evidente con antígenos de menor peso molecular, como los toxoides diftérico y tetánico.

  14. Producción de hidrógeno a partir del tratamiento anaerobio de vinazas en un reactor UASB

    Directory of Open Access Journals (Sweden)

    César González-Ugalde

    2014-09-01

    Bajo condiciones mesofílicas (37 °C, un pH de operación de aproximadamente 5,50, una concentración del sustrato de 20 000 mg DQO/L y un tiempo de retención hidráulica (TRH de seis horas, la producción promedio de hidrógeno obtenida en el reactor UASB fue de 1,68 mL H2/h/L, con una tasa máxima de 13,4 mL H2/h/L. El porcentaje de remoción de DQO en el proceso de fermentación alcanzó valores máximos del 43%, con un promedio cercano al 20%. Tanto la producción de hidrógeno como la remoción de DQO presentaron una dependencia inversamente proporcional al TRH. Los resultados obtenidos en este estudio demuestran que la fermentación anaerobia en un reactor UASB abre la posibilidad de utilizar las vinazas para producir hidrógeno molecular de forma sostenible.

  15. Automatismo para el monitoreo y control de un grupo electrógeno con arranque eléctrico

    Directory of Open Access Journals (Sweden)

    Flavio Humberto Fernández-Morales

    2015-01-01

    Full Text Available El presente trabajo tiene como objetivo desarrollar un sistema automático para el monitoreo de variables y el control sobre un grupo electrógeno trifásico con arranque eléctrico. Los procesos a controlar son: el encendido y apagado del grupo electrógeno; la conexión y desconexión del grupo y de la red a la carga, también llamado transferencia eléctrica, y el control del sistema de precalentamiento. Se diseñó un sistema distribuido, conformado por cinco módulos microcontrolados, que permite la captura y visualización de las variables más representativas en los grupos electrógenos, junto con una operación segura al momento de manejar y mantener la máquina. Un punto interesante fue el desarrollo de un bus de comunicaciones que permite el intercambio de información entre los diversos módulos del sistema a una distancia de hasta 20 m. Para ello se adaptó el protocolo I2C, inicialmente concebido para la comunicación entre circuitos integrados conectados en una misma tarjeta.

  16. Blastogénesis y pruebas intracutáneas con antígeno parcialmente purificado de Candida albicans

    Directory of Open Access Journals (Sweden)

    Maye Bernal Rivera

    1990-12-01

    Full Text Available Utilizando un antígeno parcialmente purificado de Candida albicans cuya composición se estudió por electrofóresis de poliacrylamida, se demostró que este antígeno estimula una respuesta de hipersensibilidad retardada en el curí, evidenciada tanto por el fenómeno de induración que aparece a las 24 horas y desaparece a las 72 como por estudios de histopatología. De 16 voluntarios estudiados 81.25%, fueron positivos y 18.75% negativos. Los estudios de transformación blástica de linfocitos de los candidina positivos estimulados con cantidades variables del antígeno parcialmente purificado y con base a la incorporación de timidina tritiada, fueron negativos lo cual plantea el hecho de que la prueba de hipersensibilidad retardada y la transformación blástica son fenómenos diferentes en la evaluación inmunológica.

  17. Patógenos associados a doenças de plantas ornamentais no Estado do Ceará

    Directory of Open Access Journals (Sweden)

    FRANCISCO DAS CHAGAS OLIVEIRA FREIRE

    2009-05-01

    Full Text Available Este trabalho consta de uma lista patógenos associados a doenças de plantas ornamentais no Estado do Ceará. Os fungos Cercospora apii, Chalara paradoxa, Corynespora cassiicola, Cylindrocladium candelabrum, Sphaeropsis sp., Plasmopora halstedii, Uredo anthuri e Zygosporium sp., as bactérias Pectobacterium sp., Dickeya chrysanthemi, Ralstonia solanacearum raça 2  e  Xanthomonas axonopodisis pv. dieffenbachiae, Chrysantemum stem necrosis virus bem como a “faixa clorótica do tapeinóquilos” (Rhabdovirussão relatados pela primeira vez associados a plantas ornamentais no Estado do Ceará. As plantas Anthurium andreanum, Chrysanthemum morifolium, Codiaeum variegatum Duranta repens var. aurea,  Etlingera elatior, Heliconia spp., Gomphrena globosa,  Jatropha podagrica e Sansevieria cylindrica são registradas como novas hospedeiras de nematóides do gênero Meloidogyne. O elevado número de patógenos associados a plantas ornamentais no Ceará tem sido acrescido de novos fitopatógenos, pela introdução indiscriminada de material propagativo infectado, adquirido em outros estados brasileiros.

  18. Eliminación de patógenos en biosólidos por estabilización alcalina

    Directory of Open Access Journals (Sweden)

    Silva Leal Jorge Antonio

    2009-09-01

    Full Text Available La Planta de Tratamiento de Aguas Residuales de Cañaveralejo –PTAR-C de Cali– Colombia, produce alrededor de 100 t/día de biosólidos que, aunque no tienen restricción por metales pesados, son clase B por el nivel de microorganismos patógenos y parásitos. En un diseño completamente al azar, conformado por seis tratamientos con su respectivo duplicado, se evaluó la estabilización alcalina con dosis del 9% peso a peso de cal viva e hidratada, aplicada a pilas de 0.5 t de biosólidos húmedos (66.5% y secos a temperatura ambiente (25 - 31°C durante 72 h (humedad 50.1%. Con la estabilización alcalina el pH aumentó a valores superiores a 12 unidades durante el tiempo suficiente para garantizar la reducción de patógenos y parásitos, alcanzando un material clase A; sin embargo, el biosólido seco facilitó la formación de grumos que dificultaron las labores de homogenización del sustrato con los alcalinizantes, factor indeseable para la eficiente reducción de patógenos.

  19. Eliminación de patógenos en biosólidos por estabilización alcalina

    Directory of Open Access Journals (Sweden)

    Patricia Torres Lozada

    2009-07-01

    Full Text Available La Planta de Tratamiento de Aguas Residuales de Cañaveralejo -PTAR-C de Cali- Colombia, produce alrededor de 100 t/día de biosólidos que, aunque no tienen restricción por metales pesados, son clase B por el nivel de microorganismos patógenos y parásitos. En un diseño completamente al azar, conformado por seis tratamientos con su respectivo duplicado, se evaluó la estabilización alcalina con dosis del 9% peso a peso de cal viva e hidratada, aplicada a pilas de 0.5 t de biosólidos húmedos (66.5% y secos a temperatura ambiente (25 - 31°C durante 72 h (humedad 50.1%. Con la estabilización alcalina el pH aumentó a valores superiores a 12 unidades durante el tiempo suficiente para garantizar la reducción de patógenos y parásitos, alcanzando un material clase A; sin embargo, el biosólido seco facilitó la formación de grumos que dificultaron las labores de homogenización del sustrato con los alcalinizantes, factor indeseable para la eficiente reducción de patógenos.

  20. USO DE PRETRATAMIENTO Y NUEVO BUFFER PARA OPTIMIZAR LA PRODUCCIÓN DE HIDRÓGENO BIOLÓGICO

    Directory of Open Access Journals (Sweden)

    Fernando Gerosa

    2017-01-01

    Full Text Available El objetivo de este trabajo es optimizar la producción de hidrógeno biológico por fermentación oscura a partir de cultivos bacterianos mixtos, utilizando glucosa como fuente de carbono. Para ello se evaluó el efecto en rendimientos y porcentajes de hidrógeno, al aplicar un pretratamiento con calor del inóculo. Esto permitió alcanzar porcentajes mayores de hidrógeno y rendimientos algo superiores con respecto a cultivos sin pretratamiento. También se evaluaron distintas soluciones amortiguadoras para regular el pH del medio. Comparamos el buffer comercial MES con un buffer acético-acetato de preparación propia. Éste último mantuvo el pH en valores cercanos al pKa del ácido acético, que es uno de los principales productos de fermentación. Además, al ser más económico, se lo utilizó para realizar un escalado en lote en un biorreactor de 5 litros tipo tanque agitado, logrando obtener un rendimiento entre los más altos reportados para cultivos mixtos.

  1. Evaluación de la fijación de nitrógeno por cepas de Rhizobium que nodulan Frijol (Phaseolus vulgaris L.

    Directory of Open Access Journals (Sweden)

    María Inés Ballesteros

    2010-07-01

    Full Text Available La capacidad de fijar nitrógeno de ocho cepas de Rhizohium fue evaluada incdiante dos ensayos de invernadero, en solución nutritiva, con cinco variedades de fríjol: ICA CITARA, ICA PIJAO, DIACOL CATIO, ANDINO y PVA 916. Se determinó en floración el peso seco de la parle aérea, peso seco de nodulos y nitrógeno total en la planta por el método de microkjeldahi. Las cepas de mejor comportamiento en cuanto a nitrógeno fijado fueron en su orden : CIAT 144, CIAT 899, y CIAT 2; aunque en general la respuesta de las cepas fue diferente con la variedad de Iríjol se logró un porcentaje promedio de nitrógeno fijado del orden del 28% comparado con los controles que recibieron nitrógeno combinado (Ensayo 2. Las cepas CIAT 71 15 y CIAT 632 presentaron la menor efectividad con las variedades ensayadas. Se encontró correlación altamente significativa entre el rendimiento en peso seco y el nitrógeno fijado para todas las variedades de fríjol.

  2. Comparação entre a hidroxiapatita porosa de coral e o enxerto ósseo autógeno em coelhos Comparison between coralline porus hidroxyapatite and osseous xenograft in rabbits

    Directory of Open Access Journals (Sweden)

    Arthur Silveira de Figueiredo

    1997-06-01

    Full Text Available O objetivo da pesquisa é a utilização da hidroxiapatita porosa de coral, como um xenoenxerto ósseo. Utilizou-se onze coelhos da raça Nova Zelândia, nos quais fez-se defeito padrão nas metáfises femorais distais. Nesses locais praticou-se o implante de hidroxiapatita porosa de coral ou enxerto ósseo autógeno. Fez-se estudo clínico, macroscópico, exames radiológicos e histológicos em intervalos de duas, quatro e doze semanas. Os resultados comparativos foram similares enter dois tipos de implantes. Concluiu-se que a hidroxiapatita porosa de coral é um substituto adequado para enxertos ósseos autógenos em coelhos.The purpose is to utilize coralline porous hydroxyapatite as osseous xenograft. It was utilized eleven New Zeland rabbits, wich it made pattern defect in the distal femoral mataphise. In this place was used coralline porous hidroxyapatite or autogenous graft. It was made clinical, macroscopic, radiologic and histologic study, with interval of two, four and twelve weeks. The comparatives results was similaries between the two implants types. It was concluded taht coralline porous hidroxyapatite is appropriate replacement for osseos autogenous grafts in rabbits.

  3. Quiste odontógeno: Presentación de caso

    Directory of Open Access Journals (Sweden)

    Gladys Pérez López

    2003-12-01

    Full Text Available Se presenta un paciente de 18 años de edad, remitido al Servicio de Otorrinolaringología del Hospital Clinicoquirúrgico "Comandante Manuel Fajardo", con el cuadro clínico de sinusitis recurrente y opacidad homogénea de seno maxilar izquierdo . La radiografia convencional de senos perinasales es considerada un medio diagnóstico muy importante al nivel de la atención primaria de salud, aunque también se considera necesario el ortopantograma para el diagnóstico diferencial (dientes supernumerarios, quistes dentígenos, molares retenidos. La técnica de Caldwell-Luc mejora la visibilidad y accesibilidad de las lesions, contribuye al diagnóstico, al alivio del paciente y está exenta de complicaciones.A case of 18-years old male patient with recurrent maxillary sinusitis and radiographic study with opacity in left maxillay sinus was reported. He was admitted at the Otorhinolaringology Department of "Comandante Manuel Fajardo" university clinical and surgical hospital. Conventional radiographic examination of perinasal sinus is considered a very important tool in primary health care; but also orthopantogram is required to exclude diverse diagnosis (supernumerary teeth, dentigenous cyst, and embedded tooth. The Caldwell-Luc approach improves visibility of and accesibility to lesions, contributes to make diagnosis and relieves the patient's condition without further complications. The most relevant quotations found in research works about the topic were selected.

  4. Extratos vegetais no controle de patógenos em sementes de Pterogyne nitens Tul

    Directory of Open Access Journals (Sweden)

    José George Ferreira Medeiros

    Full Text Available A demanda por sementes florestais para reflorestamento e outras finalidades poderá se constituir em um meio de disseminação de patógenos, que podem comprometer a qualidade fisiológica das sementes. Assim, objetivou-se avaliar o efeito de extratos naturais de melão-de-são-caetano (Momordica charantia e alamanda (Allamanda blanchetti sobre a micoflora e a fisiologia de sementes de Pterogyne nitens. Os seguintes tratamentos fitossanitários foram avaliados: testemunha (sementes não tratadas; fungicida Captan® (240 g/100 kg, e extratos de melão-de-são-caetano e alamanda nas concentrações de 10, 100, 500 e 1000 ppm. No teste de germinação, avaliaram-se a porcentagem de germinação, a primeira contagem e o índice de velocidade de germinação (IVG. Os extratos vegetais de melão-de-são-caetano e alamanda reduziram a incidência de fungos e aumentaram o percentual de germinação das sementes de P. nitens.

  5. Densidad de oxígeno en el aire y crisis de broncospasmo

    Directory of Open Access Journals (Sweden)

    Roberto Alvarez Sintes

    1995-04-01

    Full Text Available Se realizó un estudio prospectivo en 94 pacientes asmáticos atendidos en el consultorio médico de la familia No. 43 perteneciente al Policlínico Docente "Antonio Maceo" del municipio Cerro de Ciudad de La Habana. Durante un año (junio de 1991 a mayo de 1992 relacionamos las eventualidades diarias del estado de salud de estos pacientes con la densidad de oxígeno en el aire según la fórmula de Gotzek (9/m³ se obtuvieron los datos en el Departamento de Climatología del Instituto de Meteorología de la Academia de Ciencias de Cuba. El análisis estadístico se realizó con el uso del entrecruzamiento de variable, regresión múltiple, método de paso a paso del paquete estadístico SPSS/PC Plus. Se realizó matriz de correlación lineal paramétrica. Se obtuvo correlación significativa directa.

  6. Cisto enterógeno intrarraquiano: relato de caso Intraspinal enterogenous cyst: case report

    Directory of Open Access Journals (Sweden)

    Osmi Hamamoto

    1997-06-01

    Full Text Available Os autores relatam o caso de um paciente de 7 anos de idade, com quadro de dor cervical e tetraparesia progressiva há 2 meses, que apresentava lesão cística intrarraquiana de C4 a C6. Foi submetido a exerese da lesão por via anterior, através de corporectomia de C5-C6 e reconstrução com enxerto de crista ilíaca e placa metálica. O diagnóstico anátomo-patológico da lesão foi de cisto enterógeno. Aspectos relacionados a apresentação clínica, embriologiae tratamento dessa lesão são discutidos.The authors report the case of a 7 years old boy with cervical pain and tetraparesis progressing by two months. He presented an intraspinal cystic lesion from C4 to C6. Exeresis of the lesion was undergone by anterior way through a corpectomy of C5-C6 followed by reconstruction with bone graft of the iliac crest and metallic plaque. Anatomic diagnosis of the lesion was enterogenous cyst. Aspects of clinical presentation, embryology and treatment of these cysts are discussed.

  7. GenoBase: comprehensive resource database of Escherichia coli K-12.

    Science.gov (United States)

    Otsuka, Yuta; Muto, Ai; Takeuchi, Rikiya; Okada, Chihiro; Ishikawa, Motokazu; Nakamura, Koichiro; Yamamoto, Natsuko; Dose, Hitomi; Nakahigashi, Kenji; Tanishima, Shigeki; Suharnan, Sivasundaram; Nomura, Wataru; Nakayashiki, Toru; Aref, Walid G; Bochner, Barry R; Conway, Tyrrell; Gribskov, Michael; Kihara, Daisuke; Rudd, Kenneth E; Tohsato, Yukako; Wanner, Barry L; Mori, Hirotada

    2015-01-01

    Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for functional analysis, modeling and simulation both in individual and systematic approaches. With the long-term goal of complete understanding of a cell, we have over the past decade created a variety of clone and mutant sets for functional genomics studies of Escherichia coli K-12. We have made these experimental resources freely available to the academic community worldwide. Accordingly, these resources have now been used in numerous investigations of a multitude of cell processes. Quality control is extremely important for evaluating results generated by these resources. Because the annotation has been changed since 2005, which we originally used for the construction, we have updated these genomic resources accordingly. Here, we describe GenoBase (http://ecoli.naist.jp/GB/), which contains key information about comprehensive experimental resources of E. coli K-12, their quality control and several omics data sets generated using these resources. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  8. Synthesis, Characterization, In Vitro Evaluation, and Preclinical Profiling of beta-Cyclodextrin Polyrotaxane Families for Use As Potential Niemann-Pick Type C Therapeutics

    Science.gov (United States)

    Collins, Christopher J.

    Niemann-Pick Disease Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation and storage of UC and other lipids. A broad range of visceral and neurological symptoms result from this accumulation exhibiting a variable age of onset and a disease progression that is ultimately fatal. The disease has an incidence of approximately 1 in 120,000 live births and has no known effective treatment. beta-Cyclodextrin (beta-CD) are natural small molecules macrocycles composed of glucose units with a hydrophobic inner cavity and hydrophilic outer rims. beta-CD derivatives have recently been shown to be effective therapeutics for NPC in cellular and animal models. In the mouse model of the disease, beta-CD therapy increases overall lifetime by as much as 50% and slows the progression of neurodegeneration. The progress has led to the initiation of a National Institutes of Health phase I clinical trial. A main drawback of beta-CD administration is the poor pharmacokinetic profile characterized by rapid renal clearance of the drug through the urine. Libraries of beta-CD derivative carrying high molecular weight polyrotaxane (PR) systems have been designed to prevent glomerular filtration of the injected beta-CD dose. An initial family of unmodified beta-CD PRs was synthesized, characterized, and their therapeutic efficacy was tested in NPC fibroblasts. This was followed by screening of PRs consisting of mixed beta-CD derivative threading featuring charged sulfobutylether beta-CD. Finally, we sought to define PR structure-property effects on in vivo pharmacokinetics, biodistribution, toxicity, immunogenicity, and protein hard corona composition. This was accomplished using a family of gadolinium carrying PRs composed of triblock Pluronic co-polymers of varying

  9. Diabetes IN develOpment (DINO): the bio-psychosocial, family functioning and parental well-being of youth with type 1 diabetes: a longitudinal cohort study design.

    Science.gov (United States)

    Eilander, Minke M A; de Wit, Maartje; Rotteveel, Joost; Aanstoot, Henk Jan; Waarde, Willie M Bakker-van; Houdijk, Euphemia C A M; Luman, Marjolein; Nuboer, Roos; Oosterlaan, Jaap; Winterdijk, Per; Snoek, Frank J

    2015-07-15

    Strict glycemic control during adolescence decreases the risk of developing complications later in life, even if this level of control is not maintained afterwards. However, the majority of adolescents with type 1 diabetes (T1D) are in poor control and so far medical or psychological interventions have shown limited success. Adolescence is characterized by major biological, psychosocial, cognitive and parent-child relationship changes and the complex interaction between these developmental trajectories, and its impact on health outcomes is still poorly understood. A specific topic of interest in this context is the timing of diagnosis. The longitudinal study DINO (Diabetes IN develOpment) aims to examine: 1) If and how the onset of T1D before vs. during puberty results in different outcomes of glycemic control, self-management, psychological functioning and diabetes-related quality of life. 2) The timing of onset of disturbed eating behavior, its risk factors and its prospective course in relation to glycemic and psychological consequences. 3) If and how the onset of T1D before vs. during puberty results in different family functioning and parental well-being. 4) If and how the cognitive development of youth with T1D relates to glycemic control and diabetes self-management. DINO, a longitudinal multi-center cohort study is conducted in youth with T1D in the age range 8-15 years at baseline. Participants will be divided into two subgroups: pre-pubertal and pubertal. Both groups will be followed for 3 years with assessments based on a bio-psychosocial model of diabetes, scheduled at baseline, 12 months, 24 months and 36 months examining the biological, psychosocial -including disturbed eating behaviors- and cognitive development, family functioning and parental well-being. A better understanding of how the different trajectories affect one another will help to gain insight in the protective and risk factors for glycemic outcomes and in who needs which support at what

  10. Structures of a bi-functional Kunitz-type STI family inhibitor of serine and aspartic proteases: Could the aspartic protease inhibition have evolved from a canonical serine protease-binding loop?

    Science.gov (United States)

    Guerra, Yasel; Valiente, Pedro A; Pons, Tirso; Berry, Colin; Rudiño-Piñera, Enrique

    2016-08-01

    Bi-functional inhibitors from the Kunitz-type soybean trypsin inhibitor (STI) family are glycosylated proteins able to inhibit serine and aspartic proteases. Here we report six crystal structures of the wild-type and a non-glycosylated mutant of the bifunctional inhibitor E3Ad obtained at different pH values and space groups. The crystal structures show that E3Ad adopts the typical β-trefoil fold of the STI family exhibiting some conformational changes due to pH variations and crystal packing. Despite the high sequence identity with a recently reported potato cathepsin D inhibitor (PDI), three-dimensional structures obtained in this work show a significant conformational change in the protease-binding loop proposed for aspartic protease inhibition. The E3Ad binding loop for serine protease inhibition is also proposed, based on structural similarity with a novel non-canonical conformation described for the double-headed inhibitor API-A from the Kunitz-type STI family. In addition, structural and sequence analyses suggest that bifunctional inhibitors of serine and aspartic proteases from the Kunitz-type STI family are more similar to double-headed inhibitor API-A than other inhibitors with a canonical protease-binding loop. Copyright © 2016. Published by Elsevier Inc.

  11. The Prediction of Type 1 Diabetes in discordant and concordant families: 16 years of follow-up. Focus on the future

    Directory of Open Access Journals (Sweden)

    Elena Vitalyevna Titovich

    2014-07-01

    Full Text Available For 40 years, research continues to improve the forecasting methods and the development of effective and safe methods of preventing type 1 diabetes mellitus (T1DM.АimPrediction of the early preclinical stage of T1DM.Materials and methodsWe studied the predisposing and protective haplotypes (HLA-DRB1, gene DQ together with immunological markers (ICA, GADA, IAA in 224 discordant/concordant families.ResultsAt the Endocrinology Research Centre, population and family risks of the development of T1DM in Russia were calculated on the basis of population genetic approaches. The analysis of the prevalence of HLA genotypes among T1DM patients revealed that the high-risk haplotypes in the structure of genotype(s DQ2 and/or DQ8 in combination with the others were 78%: of these genotypes DQ2/DQ8, DQ2/DQ2, and DQ8/DQ8 accounted for 35%; DQ2/X* and DQ8/X* accounted for 43%; and the low-risk genotype Х*/Х* accounted for 22%. The genotype Х/Х consisted of weaker predisposing haplotypes that were specific to the Russian population in combination with neutral haplotypes or those consisting of neutral haplotypes only. The analysis of patients with T1DM genotypes revealed that high-risk genotypes (DQ2/DQ8 were more common in ill children up to the age of 5 (33% of cases than in T1DM children over 10 years (23% (p=0.05. Conversely, the low-risk genotypes were significantly less likely to be found in children with manifestations of diabetes up to 5 years than in sick people over 10 years [5% and 13%, respectively (p <0.05]. This is consistent with hereditary load of diabetes manifestations in young children and with the earlier data. The 16-year prospective surveillance showed that the manifestation of the disease occurred in 8.4% of siblings. The analysis of the frequency of autoantibodies revealed that autoantibodies were identified the most reliably prior to the manifestation of the disease compared with T1DM patients in the initial period and healthy siblings

  12. Coproantígenos de Fasciola hepatica de posible utilidad en el diagnóstico de la fascioliasis

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    Ana M. Espino

    2000-04-01

    Full Text Available En el presente estudio se describen cuáles son los antígenos de Fasciola hepatica que están presentes en las heces de pacientes con fascioliasis crónica y de ratas infectadas experimentalmente con metacercarias de F. hepatica. Mediante el empleo de la técnica de inmunoelectrotransferencia (Western blot con un suero hiperinmune obtenido frente a antígenos de excreción/secreción de adultos de F. hepatica, se pudo demostrar que en las heces de los pacientes se encuentran antígenos de posible interés para el diagnóstico con masas moleculares de 14, 19, 20, 23, 25, 32, 46, 51 y 62 kilodaltons (kDa. Además, se comprobó que algunos de estos péptidos (los de 14, 20, 23 y 51 kDa son reconocidos también por la mayoría de los sueros de pacientes crónicos. Después de purificar por cromatografía de afinidad los antígenos presentes en heces de ratas con 6 a 12 semanas de infección, empleando para ello el anticuerpo monoclonal ES78 acoplado a Sepharosa 4B-CNBr, se identificaron seis polipéptidos de 11, 14, 26, 32, 47 y 51 kDa; otros tres polipéptidos, de 17, 24 y 66 kDa, solo se pudieron identificar en heces de ratas con 10 a 12 semanas de infección. Nuestros resultados sugieren que estos polipéptidos pueden ser antígenos comunes a ambos estadios parasitarios y constituir importantes marcadores de la fascioliasis aguda y crónica, en particular los de 14, 24, 26 y 51 kDa, puesto que reaccionaron con el inmunosuero, los sueros humanos y el anticuerpo monoclonal ES78.

  13. THE MYC FAMILY OF ONCOGENES AND THEIR PRESENCE AND IMPORTANCE IN SMALL-CELL LUNG-CARCINOMA AND OTHER TUMOR TYPES

    NARCIS (Netherlands)

    DEVRIES, EGE; MULDER, NH

    1993-01-01

    The myc family of cellular oncogenes, c - myr, N - myc, encodes three highly related, cell cycle specific, nuclear phosphoproteins. All are able to transform primary rat embryo fibroblasts when cotransfected with the c - ras oncogene. Myc family genes am differentially expressed with respect to

  14. Brief Computer-Delivered Intervention to Increase Parental Monitoring in Families of African American Adolescents with Type 1 Diabetes: A Randomized Controlled Trial.

    Science.gov (United States)

    Ellis, Deborah A; Idalski Carcone, April; Ondersma, Steven J; Naar-King, Sylvie; Dekelbab, Bassem; Moltz, Kathleen

    2017-06-01

    African American adolescents with type 1 diabetes (T1D) are at elevated risk for poor diabetes management and metabolic control. Parental supervision and monitoring of adolescent diabetes management have been shown to promote better diabetes management among adolescents, but parents typically decrease their oversight during the transition to independent diabetes care. The purpose of the study was to conduct a randomized clinical trial to test the feasibility and efficacy of a three-session, computer-delivered motivational intervention (The 3Ms) to promote increased parental monitoring among primary caregivers of young African American adolescents with T1D. The intervention was brief and optimized for delivery during routine diabetes clinic visits. Sixty-seven adolescents with T1D aged 11-14 and their primary caregiver were randomly assigned to one of three arms: adolescent and parent motivational intervention (Arm 1), adolescent control and parent motivational intervention (Arm 2), or adolescent and parent control (Arm 3). Intervention effects were assessed 1 month after intervention completion. Parents in Arm 1 and Arm 2 had significant increases in knowledge of the importance of monitoring adolescents' diabetes care. Parents in Arm 2 also had trend to significant increases in direct observation and monitoring of adolescent diabetes care, and adolescents in Arm 2 had significant improvements in glycemic control. Findings from the present study provide preliminary support for the efficacy of a brief, computer-delivered parenting intervention for improving family management practices and adolescent health outcomes among African American adolescents with T1D and their caregivers.

  15. Pregnancy induces molecular alterations reflecting impaired insulin control over glucose oxidative pathways that only in women with a family history of Type 2 diabetes last beyond pregnancy.

    Science.gov (United States)

    Piccinini, M; Mostert, M; Seardo, M A; Bussolino, S; Alberto, G; Lupino, E; Ramondetti, C; Buccinnà, B; Rinaudo, M T

    2009-01-01

    In circulating lymphomonocytes (CLM) of patients with Type 2 diabetes (DM2) pyruvate dehydrogenase (PDH), the major determinant of glucose oxidative breakdown, is affected by a cohort of alterations reflecting impaired insulin stimulated glucose utilization. The cohort is also expressed, although incompletely, in 40% of healthy young subjects with a DM2-family history (FH). Pregnancy restrains glucose utilization in maternal peripheral tissues to satisfy fetal requirements. Here we explore whether pregnant women develop the PDH alterations and, if so, whether there are differences between women with and without FH (FH+, FH-). Ten FH+ and 10 FH- were evaluated during pregnancy (12-14, 24-26, and 37-39 weeks) and 1 yr after (follow-up) for fasting plasma glucose and insulin as well as body mass index (BMI), and for the PDH alterations. Twenty FH- and 20 FH+ non-pregnant women served as controls. All FH+ and FH- controls exhibited normal clinical parameters and 8 FH+ had an incomplete cohort of PDH alterations. In FH- and FH+ pregnant women at 12-14 weeks clinical parameters were normal; from 24-26 weeks, with unvaried glucose, insulin and BMI rose more in FH- and only in the latter recovered the 12-14 weeks values at follow-up. In all FH-, the cohort of PDH alterations was incomplete at 24-26 weeks, complete at 37-39 weeks, and absent at follow-up but complete from 12-14 weeks including follow-up in all FH+. In FH-, the cohort is an acquired trait restricted to pregnancy signaling transiently reduced insulin-stimulated glucose utilization; in FH+, instead, it unveils the existence of an inherited DM2-related background these women all have, that is awakened by pregnancy and as such lastingly impairs insulin-stimulated glucose utilization.

  16. Biochemical Characterization of the Lactobacillus reuteri Glycoside Hydrolase Family 70 GTFB Type of 4,6-α-Glucanotransferase Enzymes That Synthesize Soluble Dietary Starch Fibers.

    Science.gov (United States)

    Bai, Yuxiang; van der Kaaij, Rachel Maria; Leemhuis, Hans; Pijning, Tjaard; van Leeuwen, Sander Sebastiaan; Jin, Zhengyu; Dijkhuizen, Lubbert

    2015-10-01

    4,6-α-Glucanotransferase (4,6-α-GTase) enzymes, such as GTFB and GTFW of Lactobacillus reuteri strains, constitute a new reaction specificity in glycoside hydrolase family 70 (GH70) and are novel enzymes that convert starch or starch hydrolysates into isomalto/maltopolysaccharides (IMMPs). These IMMPs still have linear chains with some α1→4 linkages but mostly (relatively long) linear chains with α1→6 linkages and are soluble dietary starch fibers. 4,6-α-GTase enzymes and their products have significant potential for industrial applications. Here we report that an N-terminal truncation (amino acids 1 to 733) strongly enhances the soluble expression level of fully active GTFB-ΔN (approximately 75-fold compared to full-length wild type GTFB) in Escherichia coli. In addition, quantitative assays based on amylose V as the substrate are described; these assays allow accurate determination of both hydrolysis (minor) activity (glucose release, reducing power) and total activity (iodine staining) and calculation of the transferase (major) activity of these 4,6-α-GTase enzymes. The data show that GTFB-ΔN is clearly less hydrolytic than GTFW, which is also supported by nuclear magnetic resonance (NMR) analysis of their final products. From these assays, the biochemical properties of GTFB-ΔN were characterized in detail, including determination of kinetic parameters and acceptor substrate specificity. The GTFB enzyme displayed high conversion yields at relatively high substrate concentrations, a promising feature for industrial application. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  17. Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2.

    Science.gov (United States)

    Valerio, Cynthia Melissa; de Almeida, Juliana Severo; Moreira, Rodrigo Oliveira; Aguiar, Luiza Barreto S; Siciliano, Priscila O; Carvalho, Denise P; Godoy-Matos, Amelio F

    2017-01-01

    Dipeptidyl peptidase-4 (DDP4) is an enzyme responsible for glucagon-like peptide-1 inactivation and plays an important role in glucose metabolism. The aim of this study was to evaluate DPP4 levels in patients with familial partial lipodystrophy type 2 (FPLD2) and correlate it with body fat distribution. Fourteen patients with FPLD2 were selected to participate in this study and matched to a healthy control group (n = 8). All participants had anthropometrical data registered. Body adiposity index (BAI) was used to evaluate fat distribution in this population. Body fat content and distribution were analyzed by dual X-ray absorptiometry (DXA). Biochemical exams, including DPP4 levels, were performed in all individuals. Despite the same body mass index, lipodystrophic patients had a significant lower hip (median 92.0 vs 94.5; p = 0.028), HDL cholesterol (42.6 ± 10.4 vs 66.1 ± 16.0; p correlation was found between DPP4 levels and percentage of total body fat (r = 0.86; p = 0.0025) and android fat (r = 0.78; p = 0.014). Patients with FPLD2 exhibit an increase in DDP4 levels in comparison to a healthy control group. The increase in the levels of this enzyme does not seem to be related to the diagnosis of diabetes and might be associated with an increase in central fat (estimated using BAI and measured using DXA). These results might be used to reinforce the concept that DDP4 is an adipokine related to central fat distribution.

  18. Global mapping of cell type-specific open chromatin by FAIRE-seq reveals the regulatory role of the NFI family in adipocyte differentiation.

    Directory of Open Access Journals (Sweden)

    Hironori Waki

    2011-10-01

    Full Text Available Identification of regulatory elements within the genome is crucial for understanding the mechanisms that govern cell type-specific gene expression. We generated genome-wide maps of open chromatin sites in 3T3-L1 adipocytes (on day 0 and day 8 of differentiation and NIH-3T3 fibroblasts using formaldehyde-assisted isolation of regulatory elements coupled with high-throughput sequencing (FAIRE-seq. FAIRE peaks at the promoter were associated with active transcription and histone modifications of H3K4me3 and H3K27ac. Non-promoter FAIRE peaks were characterized by H3K4me1+/me3-, the signature of enhancers, and were largely located in distal regions. The non-promoter FAIRE peaks showed dynamic change during differentiation, while the promoter FAIRE peaks were relatively constant. Functionally, the adipocyte- and preadipocyte-specific non-promoter FAIRE peaks were, respectively, associated with genes up-regulated and down-regulated by differentiation. Genes highly up-regulated during differentiation were associated with multiple clustered adipocyte-specific FAIRE peaks. Among the adipocyte-specific FAIRE peaks, 45.3% and 11.7% overlapped binding sites for, respectively, PPARγ and C/EBPα, the master regulators of adipocyte differentiation. Computational motif analyses of the adipocyte-specific FAIRE peaks revealed enrichment of a binding motif for nuclear family I (NFI transcription factors. Indeed, ChIP assay showed that NFI occupy the adipocyte-specific FAIRE peaks and/or the PPARγ binding sites near PPARγ, C/EBPα, and aP2 genes. Overexpression of NFIA in 3T3-L1 cells resulted in robust induction of these genes and lipid droplet formation without differentiation stimulus. Overexpression of dominant-negative NFIA or siRNA-mediated knockdown of NFIA or NFIB significantly suppressed both induction of genes and lipid accumulation during differentiation, suggesting a physiological function of these factors in the adipogenic program. Together, our

  19. Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes: a post hoc analysis of the ADDITION-Denmark randomized controlled trial.

    Science.gov (United States)

    Eliraqi, G M; Vistisen, D; Lauritzen, T; Sandbaek, A; Jørgensen, M E; Faerch, K

    2015-08-01

    To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood pressure, lipids and HbA1c ) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age, sex, baseline value of the risk factor and general practice (random effect). At baseline, participants with a family history of diabetes were younger and had a 1.1 mmol/mol (0.1%) higher HbA1c concentration at the time of diagnosis than those without a family history of diabetes. Family history of diabetes modified the effect of the intervention on changes in HbA1c levels. In the group receiving routine care, participants with a family history of diabetes experienced an improvement in HbA1c concentration that was 3.3 mmol/mol (0.3%) lower than the improvement found in those without a family history of diabetes after 5 years of follow-up. In the intensive treatment group, however, there was no difference in HbA1c concentrations between participants with and without a family history of diabetes after 5 years of treatment. Intensive treatment of diabetes may partly remove the adverse effects of family history of diabetes on glycaemic control. The effect of this improvement on long-term diabetic complications warrants further investigation. © 2015 The Authors. Diabetic Medicine

  20. Frecuencia de subgrupos del antígeno A en donantes voluntarios de sangre.

    Science.gov (United States)

    Parra-Jaramillo, Katherine; Chiriboga-Ponce, Rosa F

    2018-01-01

    La presencia de variantes débiles del grupo sanguíneo A representa un desafío en la práctica de la inmunohematología por las discrepancias en el momento de la tipificación. Es común en bancos de sangre realizar una tipificación directa e inversa con el objetivo de confirmar el grupo sanguíneo; sin embargo, no todas las personas que presentan un subgrupo sanguíneo A2 han desarrollado anticuerpos anti-A1, lo que dificulta la identificación de subgrupos de A. El presente estudio es descriptivo, observacional y transversal, y tiene el objetivo de establecer la proporción de los subgrupos del antígeno A en donantes de sangre mediante la técnica manual en tubo con reactivos hemoclasificadores monoclonales: anti A, anti-A1 (extracto de las lectinas Dolichus biflorus) y anti-H. Se analizaron un total de 818 muestras provenientes de donantes de sangre (muestreo aleatorio estratificado), de los cuales 737 fueron tipificados inicialmente como A y 81 como AB, con un grado de confianza del 95% (error alfa del 5% y precisión del 3%). Se identificó la existencia de los subgrupos A1, A2, A1B, A2B, A intermedio y A intB en donantes de sangre ecuatorianos. Se recomienda la implementación de la identificación de los subgrupos de A en laboratorios clínicos y bancos de sangre. Copyright: © 2018 SecretarÍa de Salud