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14 results on '"Wolfgang Kühnau"'

1. Possible Impact of Cytomegalovirus-Specific CD8+ T Cells on Immune Reconstitution and Conversion to Complete Donor Chimerism after Allogeneic Stem Cell Transplantation

Author

Eva M. Weissinger, Lothar Hambach, Pavankumar Reddy Varanasi, Ulrike Koehl, Patrick Schweier, Justyna Ogonek, Susanne Luther, Elke Dammann, Arnold Ganser, Gudrun Göhring, Sylvia Borchers, Michael Stadler, and Wolfgang Kühnau

Subjects
0301 basic medicine, Transplantation, biology, business.industry, T cell, CD3, virus diseases, chemical and pharmacologic phenomena, Hematology, 03 medical and health sciences, Haematopoiesis, 030104 developmental biology, 0302 clinical medicine, Immune system, medicine.anatomical_structure, Immunology, biology.protein, Cytotoxic T cell, Medicine, Stem cell, business, CD8, 030215 immunology
Abstract

Complete donor chimerism is strongly associated with complete remission after allogeneic stem cell transplantation (allo-SCT) in patients with hematologic malignancies. Donor-derived allo-immune responses eliminate the residual host hematopoiesis and thereby mediate the conversion to complete donor chimerism. Recently, cytomegalovirus (CMV) reactivation was described to enhance overall T cell reconstitution, to increase graft-versus-host disease incidence, and to reduce the leukemia relapse risk. However, the link between CMV and allo-immune responses is still unclear. Here, we studied the relationship between CMV-specific immunity, overall T cell reconstitution, and residual host chimerism in 106 CMV-seropositive patients transplanted after reduced-intensity conditioning including antithymocyte globulin. In accordance with previous reports, the recovery of CMV-specific cytotoxic T cells (CMV-CTLs) was more frequent in CMV-seropositive recipients (R) transplanted from CMV-seropositive than from seronegative donors (D). However, once CMV-CTLs were detectable, the reconstitution of CMV-specific CTLs was comparable in CMV R+/D– and R+/D+ patients. CD3+ and CD8+ T cell reconstitution was significantly faster in patients with CMV-CTLs than in patients without CMV-CTLs both in the CMV R+/D– and R+/D+ setting. Moreover, CMV-CTL numbers correlated with CD3+ and CD8+ T cell numbers in both settings. Finally, presence of CMV-CTLs was associated with low host chimerism levels 3 months after allo-SCT. In conclusion, our data provide a first indication that CMV-CTLs in CMV-seropositive patients might trigger the reconstitution of T cells and allo-immune responses reflected by the conversion to complete donor chimerism.

Published
2017

2. Possible Impact of Cytomegalovirus-Specific CD8

Author

Justyna, Ogonek, Pavankumar, Varanasi, Susanne, Luther, Patrick, Schweier, Wolfgang, Kühnau, Gudrun, Göhring, Elke, Dammann, Michael, Stadler, Arnold, Ganser, Sylvia, Borchers, Ulrike, Koehl, Eva M, Weissinger, and Lothar, Hambach

Subjects
Adult, Male, Young Adult, Transplantation Conditioning, Hematopoietic Stem Cell Transplantation, Cytomegalovirus, Humans, Transplantation, Homologous, Female, CD8-Positive T-Lymphocytes, Middle Aged, Chimerism, Tissue Donors
Abstract

Complete donor chimerism is strongly associated with complete remission after allogeneic stem cell transplantation (allo-SCT) in patients with hematologic malignancies. Donor-derived allo-immune responses eliminate the residual host hematopoiesis and thereby mediate the conversion to complete donor chimerism. Recently, cytomegalovirus (CMV) reactivation was described to enhance overall T cell reconstitution, to increase graft-versus-host disease incidence, and to reduce the leukemia relapse risk. However, the link between CMV and allo-immune responses is still unclear. Here, we studied the relationship between CMV-specific immunity, overall T cell reconstitution, and residual host chimerism in 106 CMV-seropositive patients transplanted after reduced-intensity conditioning including antithymocyte globulin. In accordance with previous reports, the recovery of CMV-specific cytotoxic T cells (CMV-CTLs) was more frequent in CMV-seropositive recipients (R) transplanted from CMV-seropositive than from seronegative donors (D). However, once CMV-CTLs were detectable, the reconstitution of CMV-specific CTLs was comparable in CMV R+/D- and R+/D+ patients. CD3

Published
2017

3. Characterization of High-Avidity Cytomegalovirus-Specific T Cells with Differential Tetramer Binding Coappearing after Allogeneic Stem Cell Transplantation

Author

Justyna Ogonek, Christian Koenecke, Elke Dammann, Christian Schultze-Florey, Patrick Schweier, Ulrike Koehl, Lothar Hambach, Susanne Luther, Eva M. Weissinger, Michael Stadler, Kriti Verma, Pavankumar Reddy Varanasi, Gudrun Göhring, Wolfgang Kühnau, and Arnold Ganser

Subjects
0301 basic medicine, Adult, Male, Receptors, CCR7, Adolescent, CD3 Complex, T cell, medicine.medical_treatment, Immunology, Cytomegalovirus, chemical and pharmacologic phenomena, Hematopoietic stem cell transplantation, Human leukocyte antigen, Biology, Virus, 03 medical and health sciences, Interferon-gamma, Young Adult, 0302 clinical medicine, Immune system, HLA Antigens, medicine, Immunology and Allergy, Humans, Transplantation, Homologous, Aged, Cell Proliferation, Hematopoietic Stem Cell Transplantation, virus diseases, hemic and immune systems, Middle Aged, Virology, Tissue Donors, Transplantation, Kinetics, 030104 developmental biology, medicine.anatomical_structure, Cytomegalovirus Infections, Leukocyte Common Antigens, Female, Stem cell, CD8, 030215 immunology, Stem Cell Transplantation, T-Lymphocytes, Cytotoxic
Abstract

CMV reactivation is a major complication after allogeneic stem cell transplantation (SCT). Immune reconstitution of CMV-specific CTLs (CMV-CTLs) is essential for virus control. During CMV-CTL monitoring using mutated HLA/CMV tetramers selectively detecting high-avidity T cells, we observed coappearance of CMV-CTLs with low (CMV tetlow CTLs) and high tetramer binding (CMV tethigh CTLs) in 53/115 CMV IgG+ patients stem cell transplanted from CMV IgG+ donors. However, the relevance of these coappearing differentially tetramer binding (“dual”) CMV-CTLs was unclear. In this study, we investigated the kinetics, properties, and clinical impact of coappearing CMV tetlow and tethigh CTLs after allogeneic SCT. Patients with dual CMV-CTLs had more CMV tethigh than tetlow CTLs. Chimerism analysis of isolated CMV tetlow and tethigh CTLs revealed their exclusive donor origin. CMV tetlow and tethigh CTLs had an identical effector memory CD45RA−CCR7− and CD45RA+CCR7− T cell distribution, equal differentiation, senescence, and exhaustion marker expression and were negative for regulatory CD8+ T cell markers. Isolated CMV tetlow and tethigh CTLs were equally sensitive to CMV peptides in IFN-γ release and cytotoxicity assays. However, CMV tethigh CTLs proliferated more in response to low CMV peptide concentrations than tetlow CTLs. TCR repertoire analysis revealed that CMV tetlow and tethigh CTLs use different TCRs. Finally, dual CMV-CTLs were not associated with CMV antigenemia. In conclusion, these data show for the first time, to our knowledge, that both CMV tetlow and tethigh CTLs are functional effector T cells differing by proliferation, numbers in peripheral blood, and probably by their precursors without increasing the CMV reactivation risk after allogeneic SCT.

Published
2016

4. Body weight gain induced by atypical antipsychotics: an extension of the monocygotic twin and sib pair study

Author

Jörg Schmidtke, J.-C. Krieg, Frank M. Theisen, Wolfgang Kühnau, Helmut Remschmidt, Michael Haberhausen, Monika Heinzel-Gutenbrunner, J. Hebebrand, Peter M. Wehmeier, and Stefan Gebhardt

Subjects
Pharmacology, medicine.medical_specialty, Pediatrics, Risperidone, medicine.drug_class, business.industry, medicine.medical_treatment, Monozygotic twin, Atypical antipsychotic, Heritability, Twin study, Endocrinology, Internal medicine, medicine, Pharmacology (medical), medicine.symptom, Antipsychotic, business, Weight gain, Clozapine, medicine.drug
Abstract

Summary Background and objective: In our original study based on five monozygotic twin pairs and seven same-sex sib pairs, we previously showed that genetic factors contribute to body weight gain induced by the atypical antipsychotic clozapine. We aim to study this further by including patients treated with the atypical antipsychotics olanzapine or risperidone as well as opposite-sex sib pairs. Methods: Twin and sib pairs were identified by a telephone screening. Measured data on weight and other clinical variables were obtained cross-sectionally and retospectively from medical records. In seven monozygotic twin pairs and 12 sib pairs (total number of patients treated: n = 38, mean age 29·5 ± 9·5, range 13·7–54·3 years), the similarity in BMI (kg/m2) change under these atypical antipsychotics (atypical ΔBMI) and upon additional inclusion of BMI change under prior antipsychotic medication (total ΔBMI) was explored. Results: For total ΔBMI we found greater similarity in antipsychotic-induced BMI change in MZ twin pairs than in sib pairs (intrapair difference) with a heritability of h2 = 0·6, but not for atypical ΔBMI, possibly because of a genetically influenced weight plateau achieved under antipsychotic medication. Conclusion: The results of the present and our previous report suggest a contribution of genetic factors in antipsychotic-induced weight gain of 60–80%.

Published
2009

5. Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality

Author

Manfred Stuhrmann, El-Harith A. El-Harith, Dorothea Gadzicki, Wolfgang Kühnau, Michael Krawczak, Mirghani A. M. Ahmed, and Jörg Schmidtke

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Offspring, Activin Receptors, Type II, Nonsense mutation, Saudi Arabia, Abortion, Consanguinity, hemic and lymphatic diseases, otorhinolaryngologic diseases, Genetics, Humans, Medicine, Telangiectasia, Gene, Genetics (clinical), Phenocopy, business.industry, Homozygote, ACVRL1, General Medicine, Pedigree, Codon, Nonsense, Mutation (genetic algorithm), Female, Telangiectasia, Hereditary Hemorrhagic, medicine.symptom, business
Abstract

In a large Saudi Arabian family with hereditary hemorrhagic telangiectasia (HHT), we identified ACVRL1 (ALK1) nonsense mutation Q490X in 40 HHT patients and three healthy children, but neither in 11 individuals with epistaxis, 41 other healthy family members, nor in 50 healthy unrelated Saudi Arabian controls. Sequence analysis of the entire coding region of the ACVRL1 and ENG genes in five of the 11 epistaxic individuals did not reveal any other disease-causing mutation. Epistaxis seems to be a relatively common phenocopy of HHT in the family under study. One couple, both affected by HHT and carriers of Q490X, had 12 pregnancies. Three of them ended in spontaneous abortion, four in early neonatal death, and only five yielded living offspring, all of which had HHT and were Q490X heterozygous. This observation corroborates previous claims that homozygosity for HHT-causing mutations is lethal.

Published
2006

6. Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family

Author

B. H. Al-Awamy, Manfred Stuhrmann, Wolfgang Kühnau, E. A. El-Harith, Layla Bashawri, Joerg Schmidtke, and Mirghani Ali Mohamed Ahmed

Subjects
Genetics, Thrombocytosis, Genetic linkage, medicine, Locus (genetics), Hematology, Familial thrombocytosis, Allele, Biology, medicine.disease, X chromosome, X-linked recessive inheritance, Thrombopoietin
Abstract

Familial thrombocytosis (FT) has previously been described as an autosomal-dominant disorder with manifestations similar to those of sporadic essential thrombocythaemia. We studied an Arab family consisting of four brothers, aged 4-8 years, who had either sustained markedly elevated (> 1000 x 109/l) or moderately elevated (> 500 x 109/l) platelet counts, two healthy sisters and their parents who had normal platelet counts. The four brothers with FT had normal plasma thrombopoietin levels and are currently not presenting with any thrombotic or haemorrhagic complications. Mutation analysis at the thrombopoietin gene (THPO) of the affected family members failed to detect the intron 3 G-->C splice mutation that had been described as causing FT. In addition, segregation analysis using a polymorphic CA marker revealed completely discordant THPO alleles among the affected brothers. We postulate the existence of a new locus for FT whereby the disease is transmitted as a recessive, possibly X-linked trait.

Published
2001

7. Twin study on heritability of activity, attention, and impulsivity as assessed by objective measures

Author

Helmut Remschmidt, Monika Heinzel-Gutenbrunner, Johannes Hebebrand, J. Grabarkiewicz, Jörg Schmidtke, Joachim Frey, Philip Heiser, Susann Friedel, J. Smidt, and Wolfgang Kühnau

Subjects
Male, Medizin, Motor Activity, Impulsivity, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Statistical analyses, Statistics, Genetic model, Diseases in Twins, Twins, Dizygotic, Developmental and Educational Psychology, medicine, Humans, Attention, 030212 general & internal medicine, Child, Twins, Monozygotic, Heritability, Twin study, Zygosity, 030227 psychiatry, Disruptive, Impulse Control, and Conduct Disorders, Clinical Psychology, Movement pattern, Social Class, Attention Deficit Disorder with Hyperactivity, Attention deficit, Female, medicine.symptom, Psychology
Abstract

Objective: The purpose of this study was to assess heritability of activity, attention, and impulsivity by comparing young monozygotic (MZ) twins with dizygotic (DZ) twins using objective measures. Method: The OPTAx test is an infrared motion analysis to record the movement pattern during a continuous performance test. Seventeen MZ and 12 same sexed DZ twin pairs in the range of 6 to 12 years were tested. The zygosity was determined by DNA-fingerprinting. The measures under investigation were activity (microevents and spatial scaling), impulsivity (errors of commission), and attention (accuracy and variability). For statistical analyses, the classical model of Falconer and the ACE and ADE genetic model for twin data were applied in order to estimate the proportion of the variance in activity, impulsivity and attention that is due to genetic effects. Results: The respective coefficients of intraclass correlations in MZ twins ranged between .35 and .65 whereas for DZ twins the correlations were between .12 and .88. The heritability estimates resulting from both models were about 30% for 4 of the 5 measures, but none of these was significantly different from 0. Conclusion: We found no significant influence of genetic factors for activity, attention, and impulsivity. The authors conclude that further investigation of heritability of ADHD is necessary using larger sample sizes and objective measures.

Published
2006

8. Clozapine-induced weight gain : A study in monozygotic twins and same-sex sib pairs

Author

Jürgen-Christian Krieg, Johannes Hebebrand, Michael Haberhausen, Frank M. Theisen, Wolfgang Kühnau, Peter M. Wehmeier, Jörg Schmidtke, Helmut Remschmidt, Stefan Gebhardt, and Monika Heinzel-Gutenbrunner

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Medizin, Biology, Weight Gain, Body Mass Index, Internal medicine, Genetics, medicine, Humans, Antipsychotic, Clozapine, Biological Psychiatry, Genetics (clinical), Retrospective Studies, Sex Characteristics, Siblings, Twins, Monozygotic, Heritability, Twin study, Psychiatry and Mental health, Endocrinology, Standard error, Cross-Sectional Studies, Sample size determination, Female, medicine.symptom, Weight gain, Body mass index, medicine.drug
Abstract

To assess the relative contribution of genetic factors in antipsychotic-induced weight gain, we explored the similarity in body mass index (BMI) (kg/m(2)) change under clozapine only (clozapine DeltaBMI) and upon additional inclusion of BMI change under prior antipsychotic medication (total DeltaBMI) of five monozygotic twins in comparison with seven same-sex sibs. Twin and sib pairs were identified by a telephone screening of 786 office-based psychiatrists. Measured data on weight and other clinical variables were obtained cross-sectionally and retrospectively from medical records. We found greater similarity in total DeltaBMI in monozygotic twins (intrapair difference 2.78+/-3.41 kg/m(2)) than in same-sex sibs (5.55+/-4.35 kg/m(2)), resulting in heritability estimates of h(2)=0.8 and A=0.45 (ACE twin model). However, intrapair differences in clozapine DeltaBMI were similar between twins (4.18+/-4.27 kg/m(2)) and sibs (4.68+/-4.88 kg/m(2)). We hypothesize that the weight plateau achieved under clozapine is influenced by genetic factors. The weight gain achieved during pretreatment with other antipsychotics seems to limit clozapine-induced weight gain, thus presumably explaining why heritability/similarity in monozygotic twins in comparison with same-sex sibs is greater for total DeltaBMI than for clozapine DeltaBMI. An important caveat is that, owing to the sample size, the heritability estimates have a large standard error and thus have to be interpreted with caution.

Published
2005

9. Poster

Author

Olivera Aleksic, Milica Pejovic-Milovancevic, Smiljka Popovic-Deusic, Biljana Pirgic, Ivana Sojic, Christoph Correll, Umesh Parikh, Vladimir Olshanskiy, Bhrigu Chopra, John M. Kane, Anil K. Malhotra, Sonja Sieslack, Gottfried Maria Barth, Gunther Klosinski, Sheila Sadigorsky, Sefi Kronenberg, Amos Frisch, Nicola Williams, Bruce Tonge, Neville King, Glenn Melvin, Amanda Dudley, Michael Gordon, Ester Klimkeit, Simon Hatch, John Breddy, Heleen DeCory, Sara Cameron, Mary Solanto, Maria Serra-Pinheiro, Isabella Sousa, Paulo Mattos, Fernanda Gomes, Giuseppe Pastura, Desna Milinkovic, Oliver Bilke, Sibille Kühnel, Bernhard Winterfeld, John Campo, James Perel, David Axelson, Jeff Bridge, Boris Birmaher, Neal Ryan, David Brent, Edmund J. S. Sonuga-Barke, Dorothea Y. Sanchez, Mani Pavuluri, David B. Henry, Julie A. Carbray, Gwendolyn Sampson, Michael W. Naylor, Philip G. Janicak, Stefan Gebhardt, Frank Theisen, Michael Haberhausen, Monika Heinzel-Gutenbrunner, Peter Wehmeier, Jürgen-Christian Krieg, Wolfgang Kühnau, Jörg Schmidtke, Helmut Remschmidt, Johannes Hebebrand, Hans-Willi Clement, Christian Fleischhaker, Klaus Hennighausen, Eberhard Schulz, Reiner Frank, Belda Karamete, Gunnel Löndahl, Peik Gustafsson, Anneli Parnegdrd, Giancarlo Rigon, Simona Chiodo, Alessandra Mancaruso, Daniele Giovanni Poggioli, Stefano Costa, Pedro Pires, Isabel Brito, Isabel Carvalho, Sara Almeida, Paula Zaragoza, Yury Shevchenko, Vasilisa Korneeva, Miodrag Stankovic, Aneta Lakic, Vesna Milovanovic, Sandra Stankovic, Bernard Hobrücker, Filip Caby, Jean Chambry, Stéphane Laudrin, Catherine Graindorge, Arata Oiji, Yukiko Morioka, Ami Murata, Madoka Sato, Yume Hashizume, Katarina Müller, Willigis Werner, Matthias Martin, Eva Mattejat, Myriam Olivieri, Annalisa Simoncini, Sonia Marchegiani, Marco Lazzorotto Muratori, Gabriele Borsetti, Shewikar Farrag, Riccardo Coltrinari, Doa Habib, Daniel Fung, Nelson Lee, Susanne Ohmann, C. Popow, M. Lanzenberger, H. Herzog, S. Schuch, S. Miksch, Fatemeh Abdollahy, S. Khani, B. Shabankhani, Joao Guerra, Claudia Fontes, Vania Martins, Ana Teles, Corina Rodrigues, Zulmira Correia, Gereon Becht-Jördens, Catherine McElearney, Michael Fitzgerald Henry Marsh, Alexander Naumann, Dirk Holst, Annette Engbarth, Tiberiu Mircea, Ashima Nehra, Savita Malhotra, Subho Chakrabarti, Shashi Kiran, Srinath Shoba, Allan Hvolby, Jan Ib Jorgensen, Marco Medeiros, Ariete Correia, Maria Gabilondo, Pedro Caldeira da Silva, Augusto Carreira, Jae-Won Yang, Yeoung-Rang Kim, Sung-Do David Hong, Sang-Sin Lee, Seong-Hu Lim, Jeoung-Hwan Park, Vera Trbic, Danica Boskovic, Jan Pauschardt, Fritz Mattejat, Kurt Quaschner, Erika Lischka, Mechthild Bauer, Franka Petzke, Britta Wehrmann, Sigita Lesinskiene, Laura Paskauskaite, Luisa Garcia-Giralda Bueno, Juana Montiel Gonzales, Javier Gallego Cumbres, Francisco Gutierrez Asensio, Susanne Denoix, Franz Kimmig, Marc Weinhardt, Peter Greven, Stefan Buchmann, Nurgül Atas, Ute Jonkanski, Bodo Pisarsky, Silvia Treuter, Josep Cornellà, Alex Llusent, Lara Condesso, António Trigueiros, Klaus Schütz, Michael Tarren-Sweeney, Philip Hazell, Luigi Mazzone, Diego Mugno, Liliana Ruta, Valentina Genitori D’Arrigo, Perrotta Concetta Simona, Teresa Mattina, Domenico Mazzone, Ralf Nordbeck, Wolfgang Gierow, Frank Haessler, Johannes Buchmann, Lucia Bliznakova, Yvonne Grimmer, H. J. Roth, Christine Jennen-Steinmetz, Martin H. Schmidt, Katja Becker, Andrea G. Ludolph, Alexander Storch, Tobias Boeckers, Joachim Kirsch, Jörg M. Fegert, Oksana Drevitska, Carlo Cianchetti, Simona Corona, Maria Foscoliano, Daniela Contu, Giuseppina Sannio Fancello, Anna Costa, Mara Roello, Angela Romano, Anna Fabrizi, Andrea Pelliccia, Maria Matricardi, Nickola Matthias, Timo Lesnick, Matthias Gass, Linyan Su, Jishui Zhang, Dazing Wu, Xuerong Luo, Ignazio Ardizzone, Paola D’Oto, Francesca Priskich, Elvira Rigillo, Nadia Tomassetti, Francesca Vagnoni, Beate Sabisch, Anja Hahne, Lisa Glass, Angela D. Friederici, Waldemar von Suchodoletz, Carlo Di Brina, Andrea Pagnacco, Flavia Capozzi, Roberta Penge, Fabio Bocci, Laura Cantonetti, Alessandra De Carlo, Barbara Scanferla, Teresa Sebastiani, Cristina Vagnoni, Xueping Gao, Yasong Du, Fabio Lorenzetti, Michael von Aster, Martin Schweiter, Karin Kucian, Thomas Loenneker, Thomas Dietrich, Ernst Martin-Fiori, Hesham Abuhegaz, Hashem Bahary, Dae-Hwan Lee, Bong-Seog Kim, Seong-Ill Jeon, Sun-Lu Chung, Maria Conceicao Taborda da Simoes, Maria Luz Vale da Dias, Ulf Engqvist, Per-Anders Rydelius, Maria Dores das Formosinho, Ana Monica Pinto, Luiza Nobre Lima, Tobias Edbom, Jan-Olov Larsson, Paul Lichtenstein, Bernardo Perez, Macarena Marin, Su-Jin Yang, Helen Lee, Kyung-Sun Noh, Ferdinand Keller, Lutz Goldbeck, Ghizlane Benjelloun, Dirk Dhossche, Sara Stanfill, Akiko Takahara, Minemitsu Kusu, Sumiko Watanabe, Tatsuya Matsui, Kengo Ikeda, Hiroe Matsuda, Hiie Allik, Hans Smedje, Sadaaki Shirataki, Bonko Murakami, Rawheya Ahmad Mohamed, Fiona Dunbar, Sarah Shea, Mariko Atsumi, Hideo Matsumoto, Akitoshi Ooya, Seiji Koishi, Yutaka Aoki, Youichi Enseki, Yuri Nakamura, Kostas Francis, Vassilis Kazaridis, Panagiota Kirillidou, Sofia Koukouvinou, Sobharani Paliwal, Parkview Clinic, William Whitehouse, Margo Edwards, Ayliffe Edwards, Sunita Pandit, Judith Powell, Mehdi Tehrani-Doost, Mitra Sepasi, Javad Alaghband-Rad, Reza Rad Goodarzi, Masaki Kodaira, Andrea Viertler, Katja Elpel, Olaf Reis, Melda Ayse Akçakn, Gulsen Erden, Efser Kerimoglu, Eric Lemonnier, Toshio Munesue, Kouhei Mutoh, Kazunori Shimoda, Hideo Nakatani, Yoshifumi Koshino, Isabell Germerott, Eman Galal Sadek, A. G. Litvinov, Froylan Calderón-Castaneda, Alberto Enrique Nuno-Licona, Efren Alatorre-Miguel, Kirstin Goth, Klaus Schmeck, Sibylle Winter, Anja Wiegard, Günter Hinrichs, Denis Köhler, Martin Kammerer, Diana Adams, Brida von Castelberg, Alyx Taylor, Maj-Britt Posserud, Kjell Morten Stormark, Astri J. Lundervold, Christopher Gillberg, Maaike Steijnen, Sophie Verhoeven, Ivana Francula, Igor Prpic, Rena Volga, Stefania Di Biasi, Francesca Piperno, Filomena Puleo, Sara Cerracchio, Roberta Giacchè, Zoé Rein, Nathalie Godart, Fabienne Perdereau, Florence Curt, Philippe Jeammet, Jacques Fermanian, Emine Ozgur Bayman, Yesim Taneli, Neslim Guvendeger, Bulent Ediz, Suna Taneli, Ismet Kan, Angela Plaß, Claus Barkmann, B. Mack, K. Mittenzwei, Peter Riedesser, Michael Schulte-Markwort, Veit Roessner, Andreas Becker, Nicola Hagenberg, Matthias Berking, Tobias Banaschewski, Aribert Rothenberger, Nathalie Coulon, Daniela Tardiola, Stefano Balsamo, Nadia Capriotti, Tanveer Sandhu, Tuula Tamminen, Nina Iovchuk, Ivona Milacic, Oliver Vidojevic, Ayse Kilincaslan, Nahit Motavalli Mukaddes, Gokce Sozen, Ayla Umut, Kenji Yamamoto, Shinko Koishi, Noriko Natsume, Kosuke Yamazaki, Eiji Nanba, Fabienne Naber, Emma van Daalen, Jan Buitelaar, Marinus van IJzendoorn, Sophie Willemsen-Swinkels, Marian J. BakermansKranenburg, Herman van Engeland, Maretha de Jonge, Chantal Kemner, Andrea Caby, Stefan Bendt, Vera Bashina, Maria Krasnoperova, Jan Croonenberghs, Sonja Sliwinski, Armand Christophe, Dirk Deboutte, Michael Maes, Alessia Tosco, Emanuela Giorgi, Monica Lazzarini, M. Liliana Iorio, Mercedes Becciu, Bung-Nyun Kim, Jeong In-Hyoung, Dong-Hyun Ahn, Boong-Nyun Kim, Yun-O Shin, Kang-E Hong, Michal Hrdlicka, Jiri Neuwirth, Vladimir Komarek, Marketa Havlovicova, Zdenek Sedlacek, Marek Blatny, Tomas Urbanek, Masataka Ohta, Yukiko Kano, Yoko Nagai, Anne Wintgens, Jean-Yves Hayez, Seoung-Hu Lim, Ji-Hye Ha, Hee-Jung Byun, Ji-Hae Kim, Rebecca Lee, Eric Fombonne, Eric Taylor, Füsun Çuhadaroôlu Çetin, Deborah James, Maria Lawlor, Nick Sofroniou, Kiyoko Kamibeppu, Lori Sato, Yasutaka Hoshi, Jezdimir Zdravkovic, Petar Kostic, Khalid Murafi, Michael Ries, Rainer Georg Siefen, Martin Jelinek, Helena Klimusova, Jaroslava Blizkovska, C. Burke, B. Doody, Carole Müller Nix, Ayala Nicole, Markus Wilken, Marguerite Dunitz-Scheer, Alexandra Krasnovsky, Anastasia Dressler, Valentina Perelli, Francesca Tinelli, Valentina Rafanelli, Stefania Bargagna, Gerhard Libal, Paul Plener, Jórg M. Fegert, Fumiko Enokido, Masako Higuchi, Istuki Jibiki, Martina Tomori, Hee-Jeong Yoo, Su-Yeon Kim, In-Hee Cho, Sook-Kyeong Yune, In-Kyoon Lyoo, Ji-Hyun Ha, Barbara Haas, Lyudmila Danilova, Kanita Dervic, Janos Csorba, Sandor Rozsa, Marjorie Kleinman, Laszlo Tringer, Max Friedrich, Madelyn Gould, Tuerkan Akkaya-Kalayci, Gerhard Lenz, Elisa Lapponi, Maria Carla Filipponi, Felicia Lauria, Carla Sogos, Akihide Kitamura, Bjoern Albrecht, Xianghui Zhang, Xuerong Li, Vesna Hercigonja-Novkovim, Dubravka Kocijan-Hercigonja, Stephen Ralston, Maria Lorenzo, Asmaa Amin Abdel Aziz, Joseph Biederman, Thomas Spencer, Rodney Moore, Haitao Gao, Josep Cornelld, Natasa Potocnik Dajcman, Rok Holnthaner, Guangrong Xie, Ulrike Sühlfleisch-Thurau, Frank Häßler, Margaret Tiffin-Richards, Michael Richards, Marcus Hasselhorn, Alper Bayrak, R. Rodrigues Pereira, W. Brussel, L. Vlasveld, H. G. Tuynman-Qua, M. J. Lorenzo, Dong-Ho Song, Eun-Hye Ha, Eun-Sik Lee, Young-Min Yu, Hans-Theo Weiler, Heike Hellrung, Caro Grünling, Stephan Overmeyer, Markus Ligges, Bernhard Blanz, Armin Claus, Susanne Walitza, Peter Scheuerpflug, Christoph Wewetzer, Manfred Gerlach, Andreas Warnke, Mieko Aoki, Shozo Aoki, Masato Takii, Yasuko Uchigata, Takehiro Nozaki, Keisuke Kawai, Shu Takakura, Chikako Koreeda, Chiharu Kubo, Hitoshi Saino, Kenzo Denda, Kouichi Ito, Satoshi Asakura, Yukiya Sasaki, Fumi Sasaki, Seishiro Inoue, Sonja Werneck-Rohrer, Ernst Eveline, Heidrun Eichberger, Carolin Prause, Bibiana Schuch, Andreas Lamerz, Jutta Kuepper-Nybelen, Christine Wehle, Gabriele Trost-Brinkhues, Hermann Brenner, Beate Herpertz-Dahlmann, Beata Pawlowska, Maria Chuchra, Marta Kaczynska-Haladyj, Ulrike Margarete Elisabeth Schulze, Simone Schuler, Dieter Schlamp, Peter Schneider, Christian Reiners, Chihiro Morita, Anatoly Severny, Victor Brutman, Irina Kireeva, Marc Schmid, Antje Zander, Marta Kaczynska-Haladyi, Nicole Bruning, Gabriele TrostBrinkhues, Christian Popow, Andreas Karwautz, Sylvia Eimecke, Kristian Holtkamp, Anna Capasso, Masaki Seki, Yu Wakabayashi, Ken Takaoka, Marc G. Schmid, Claudia Zerahn-Hartung, Kayo Morioka, Jan Nedoschill, Peter Leiberich, Thomas Loew, Jae-Suk Jung, Young-Sik Lee, Sun-Ju Chung, Tae-Won Park, Alba Sunshine Bettoschi, Pasquale Carboni, Soo-Churl Cho, Jeong-Mee Ahn, Kang-E. Hong, Jan Elena Kassubek, Sylvia Quiner, Michaela Seyering, Max H. Friedrich, Ana Radojkovic, Ana Velimirovic, Sherese Ali, Kevin Parker, Zarko Martinovic, Nadezda Krstic, Nevenka Buder, Veronika Ispanovic, Ewa Mojs, Maria Danuta Glowacka, Junko Hayashi, Syunichi Funakosi, Takamichi Kamiyama, Takashi Ueno, Tomohiro Ishii, Yutaka Hayashi, Hiroo Matsuoka, William Gardner, Amanda Lucas, David Kolko, Kelly Kelleher, Maria Claustre Jané Ballabriga, Sergi Ballespi Sola, Montse Dorado, Natalia Diaz Reganon, Maite Gonzalez Alonso, Maria Dolores Riba, Edelmira Domenech Llaberia, Kayano Ishii, Kayo Inoko, Aya Nishizono-Maher, Makiko Osawa, Mari Kasahara, Kazuhiko Saitou, Satomi Murase, Risa Oga, Takashi Murakami, Shuji Honjo, Hitoshi Kaneko, Shiori Arai, Sabine Völkl-Kernstock, Sonja Bauch-Prater, Martha Feucht, Paula Vilariça, Isadora Pereira, Olivia Pastor, Susana Farinha, Pedro Caldeira, Maria Antónia Silva, Caterina Gawrilow, Peter M. Gollwitzer, Keun-Ah Cheon, Young-Hoon Ryu, Jae-won Kim, Alceu Gomes Correia Filho, Luis Augusto Rohde, Tatiana Silva, Rafael Bodanese, Michael Aman, W. Boudewijn Gunning, Manfred Laucht, Mahha El-Faddagh, Martin Schmidt, Jakob Nützel, Juliane Ball, Cornelia Elben, Halina Kadziela-Olech, Taewon Park, Myung Ho Im, Daehee Kang, Hee Jeong Yoo, David Michelson, Shuyu Zhang, Dustin Ruff, Peter Feldman, Niels Bilenberg, Jurgen Jensen, Azar Moradi, Vahed Alaey, Christopher Kratochvil, Timothy Wilens, Laurence Greenhill, Douglas Gelowitz, Leon Patrice Celestin, Smadar Celestin-Westreich, Somnath Banerjee, M. Chandola, S. Venables, Hideki Negoro, Junzo Lida, Hidemi Iwasaka, Masanori Kyo, Tatsushi Nagano, Kanae Kishino, Toshihumi Kishimoto, Bong-Suk Kim, Jun-Won Hwang, Masanori Kyoh, Lida Junzo, Negoro Hideki, Nagano Tatsushi, Kishino Kanae, Iwasaka Hidemi, Kishimoto Toshifumi, Rael Strous, Simion Kertzman, Z. Ben Nachum, Moshe Kotler, Roni Hegesh, David Coghill, Quentin Spender, Joanne Barton, Chris Hollis, Cammy Yuen, Irina Cleemput, Lieven Annemens, Susanne Eschmann, Karl Christoph Käppler, Maycoln M. L. Teodoro, Eva Stieger, Anouk Mugier, Stephanie Stüttler, Cord Alexander Heise, Henrik Uebel, Charlotte Hanisch, Kerstin Konrad, Ralph Radach, Dagmar Horn, Noa Tsujii, Akira Okada, Noriko Kuriki, Junko Matsuo, Kazushi Hanada, Takeshi Kusube, Kazuhiko Hitomi, Marcelo Schmitz, Daniel Denardin, Tatiana da Silva, Thiago Pianca, Tatiana Roman, Mara Hutz, Asma Bouden, Ines Dengezli, Mohamed Halayem, Oscar Herreros, Francisco Sanchez, Belen Rubio, Ramon Gracia, Simone Henrike Weber, Alex Wolters, Albert J. Allen, Roger Kurlan, Donald Gilbert, David Dunn, F. Randy Sallee, Christine Thomason, Virginia Sutton, Denai Milton, Dorthe Petersen, Solvejg Kristensen, Jörg Kinkelbur, Juliane Hellwig, Martin Hellwig, Eckert Rüther, Olayinka Omigbodun, O. Esan, K. Bakare, B. O. Yusufi, F. Nuhu, A. Adesokan, Marie Kopecky-Wenzel, Mark-Peter Steenhuis, Ruud Minderaa, Marie-Louise Körlof, Margit Wängby, Lars R. Bergman, Suwei Yu, Petteri Multimäki, Kai Parkkola, Andre Sourander, Georgios Nikolakaros, Hans Helenius, Carina Freitas, Assunçâo Rocha, Lídia Pocinho, Shinichi Arai, Hironobu Ichikawa, Ikuko Hirosawa, Maria Elena Mdrquez-Caraveo, Verónica Pérez-Barrón, Merete Juul Sorensen, Ole Mors, Per Hove Thomsen, Kai von Klitzing, Sonja Perren, Agnes von Wyl, Dieter Burgin, Han-Ik Yoo, Min-Sup Shin, Kang E. Hong, Ehsan Syed, Sobia Haqqi, Michail Semago, Sigita Girdzijauskiene, Dainius Puras, Grazina Gintiliene, Dovile Cerniauskaite, Christiane Bormann-Kischkel, Rosemarie Schmoetzer, Diana Frischholz, Martin Linder, Catharina Ganseforth, Daniela Rödder, Angela Kribs, Frank Pillekamp, Alexander von Gontard, Bernhard Roth, Tjhin Wiguna, Cristina Maria Ribeiro Marques, Teresa Goldschmidt, Teresa Cepeda, Ayse Arman, Refika Ersu, Dilsad Save, Goksin Karaman, Koray Karabekiroglu, Bulent Karadag, Meral Berkem, Lene Ruge Moller, Parathasarathy Biswas, Anil Malhotra, Nitin Gupta, Tord Ivarsson, Oeystein Litlere, Per Svalander, Yelena Yelikova, Petar Nastasic, Snezana Filipovic, Roza Panoski, Goran Lazetic, Nataliya Zvereva, Monika Strauss, A. Graf, R. Zollinger, Tanja Brückl, Michael Höfler, Lena Schwenden, Hans-Ulrich Wittchen, Roselind Lieb, Angelika Schweitzer, Jane Edwards, Monika Schlögelhofer, Paul G. Amminger, Maria Giuseppina Ledda, A. Zuddas, T. Piroddi, M. Abis, A. Mereu, Fabian Härtling, Ralf Tepest, Tanja Goncharova, David E. D. Linden, Peter Falkei, Kai Vogeley, Fritz Poustka, Miriam Spinner, Julian Dobranowski, Duncan MacCrimmon, Jim Gibson, Susan Fawcett, Margarita Criollo, Brigitte Ramsauer, Nina Janke, Danica Boskovic Djukic, Fabiola Napoli, Raffaella Valente, Valeria Neri, Mauro Ferrara, Carla D’Agostini Costa, Christian Veronesi, Sergio Melogno, Achille Gigliotti, Bruna Mazzoncini, Antonio Fonseca, Eva Maid, Erika Hohm, Claudia Mehler-Wex, J. Catharina Duvigneau, Romana T. Hartl, Dorit Ben-Shachar, Harvey Kranzier, Sanjiv Kumra, Ginny Gerbino-Rosen, David Roofeh, Courtney De Thomas, Carolyn Dombrowski, Marjorie McMeniman, Hsueh-Ling Chang, Sue-Huei Chen, Keh-Chiang Yu, Michael Kölch, Reinhild Bücheler, Christoph H. Gleiter, Stephanie P. Bohne, Frank M. Häßler, Bärbel Gierow, Julie Carbray, Sampson Gwen, Michael Naylor, Anja Taanila, Katri Hautala, Päivi Kemppainen, Arto Kotimaa, Hanna Ebeling, Irma Moilanen, Monica Biscaldi, Bettina Wagner, Ute Dürrwächter, Susanne Trauzettel-Klosinski, Jens Reinhard, Ellen Plume, Gerd Schulte-Körne, Branko Aleksic, Regula Blaser, Ulrich Preuss, Claudia Meusel, Georg Macharey, Ulrich Strehlow, Johann Haffner, Jürgen Bischof, Volker Gratzka, Peter Parzer, Franz Resch, Steffi Sachse, Beatrice Anke, Monika Adamski, Angelika Pecha, Dragana Macesic-Petrovic, Svetlana Slavnic, Chie Hatagaki, Hanna Swaab, P. Cohen-Kettenis, Roberta Di Scipio, Ester Patruno, Sylvia Reinelt-Straka, Liselotte Hoffmann, Max H. Friedrich Dragana, Macesic Petrovic, Monique Nesa, David Hay, Clare Roberts, Mairead McCoy, Harriet Salbach, Uta Klopfer, Swantje Hagen, Bürger Arne, Ulrike Lehmkuhl, Bradley Smith, Judith Sinzig, Martin Hohmann, Takayo Mukai, Pia Enebrink, Niklas Ldngström, Henrik Andershed, Louis Richer, Lise Lachance, Claude Dubé, Serge Saintonge, Matti Virkkunen, Jyrki Liesivuori, Risto Bloigu, Jari Tiihonen, Alasdair Vance, Chidambaram Prakash, Magali Reyes-Harde, Krisztina Csaba, Marielle Eerdekens, Roza Olah, Ilse Augustyns, Ulrike Hellmann, Astrid Matei, Ji Hyun Ha, In Hee Cho, Mee Gyeong Kim, Sook Kyeong Yune, In Kyoon Lyoo, Bruce Barbro, Guilherme Polanczyk, Zineb Iraqi, Nadia Kadri, Driss Moussaoui, Kamal Raddaoui, Karl Titze, Susanne Wollenweber, Verena Nell, Andreas Wiefel, Margarita Forcada Guex, Basaran Sezer, Farshid Shamsaei, Fatemeh Cheraghi, Oytun Hasturk, Mehmet Okan, Naoko Sato, Aya Sato, Eleonora Camillo, Viviana Porcari, Maria Patrizia Salatiello, Sabrina Chifari, Valentina Dell’Oglio, Militello Rosanna, Carmela Scrò, Lisette Hart-Kerkhoffs, A. Ph. van Wijk, L. M. C. Jansen, Robert Vermeiren, Theodore Doreleijers, Shi Ji Zhang, Reija Latva, Liisa Lehtonen, Raili Salmelin, Emmanouel Tsalamanios, Gerasimos Kolaitis, Elena Paliokosta, Stauroula Diareine, Sofia Anasontzi, Alkis Tsiantis, Irini Limbinaki, John Tsiantis, Leontina Dreana-Ianciu, Miriana Vrajitoriu, Laura Lebedeva, Yasemen Taner, Betul Bakkaloglu, Füsun Çuhadaroâlu Çetin, Cengiz Ozbesler, Mihriban Erturk, Sandra Sebre, Audrey Keller, Ayala Borghini, Blaise Pierrehumbert, François Ansermet, Adrian Furnham, Peter Noack, Bruce Kirkcaldy, Michaela Felber, Stefan Puig, James Swain, James Leckman, Linda Mayes, Ruth Feldman, Robert Constable, Robert Schultz, Evgeny Koren, Umaporn Trangkasombat, Michael Karle, Marina Belianchikova, Galina Scoblo, Valentin Fadeev, Lyne Jaunin, Francois Ansermet, Tatsuo Ujiie, Kenji Nomura, Yasuko Sasaki, Vaska Stancheva-Popkostadinova, Meglena Achkova, Emine Kilic, Gönül Erdogan, Rami Gaber, Areej Qasqas, Martin Aßhauer, Hubertus Adam, Lynne Jones, Linda Rachidi, Kawtar Halty, Omar Battas, Agnes Leor, Shmuel Tyano, Schaul Shreiber, Nan Hosogane, Kyoto Watanabe, Makiko Okuyama, Young-Shin Kim, Bennett Leventhal, Yun-Joo Koh, W. Thomas Boyce, Sonja Liptai, Marianne Clauß, Petra Heuer, Abdul Nasser Kaadan, Samuel Menahem, Frances Salo-Thompson, Bizhan Shabankhani, Christoph Hoeger, Seong-Shim Jeong, Jeong-Hwan Park, Eduardo Szaniecki, Lise Roll-Pettersson, Patrick Ehnis, Maria Trosse, Piedade Van Rebelo, Eva Heimdahl Mattson, Giulietta Cucchiaro, Mariadonatella Cocuzza, Giada Morales, Nataliya Bobrova, Fernando Asbahr, Renato Ramos, André Costa, Roberto Sassi, Maaike Nauta, Sonila Tomori, Valbona Alikaj, A. Como, Lisa Snider, Marjorie Garvey, Dirce Zanetta, Helio Elkis, Susan Swedo, Pinar Vural, Kai Wang, Yan Zhu, Osman Sabuncuoglu, Viktoryia Krasavina, Nina Pykhtareva, Bianca Venuti, Naohiko Tachi, Naomi Kodoi, Naoko Sakamoto, Michiko Watanabe, Motiko Goto, Frank Geller, J. Reinlein, Nikolaus Barth, F. Hahn, Anke Hinney, Monika Robatzek, Rosa Calvo, Lazaro Luisa, Lucrezia Cirigliano, Loredana Lucarelli, Uwe Ratz, Thomas Stegemann, Ulla Breuer, Susanne von Widdern, Leonie Fricke, Alexander Mitschke, Alfred Wiater, Gerd Lehmkuhl, Kyoichi Honda, Muhmmad Lafta, Secil Oktem Kurultak, S. Tomori, and E. Petrela

Published
2004

10. A paternity case with apparently conflicting multilocus and single-locus DNA typing results

Author

Michael Krawczak, Wolfgang Kühnau, Jörg Schmidtke, and Ingolf Böhm

Subjects
Genetics, Linkage (software), Male, Clinical Biochemistry, Paternity, DNA, Minisatellite Repeats, Multiple Loci VNTR Analysis, Biology, Biochemistry, DNA Fingerprinting, Analytical Chemistry, chemistry.chemical_compound, DNA profiling, Tandem repeat, chemistry, Multilocus sequence typing, Humans, Electrophoresis, Polyacrylamide Gel, Typing, Oligomer restriction, Oligonucleotide Probes, Probability
Abstract

A paternity case is presented in which DNA typing with thirteen variable number of tandem repeat (VNTR) systems was in apparent conflict with an initial multilocus DNA analysis using oligonucleotide probe (CAC)5. A dual approach was necessary, because the multilocus analysis yielded a proportion of aberrant nonmaternal offspring bands far too small and level of band-sharing too high for non-paternity. The case could finally be solved by reference to the joint likelihood ratio combining both approaches. Arguments are presented that summation of log likelihoods is indeed valid even if no information is available regarding linkage between the VNTR loci and the loci contributing to a multilocus DNA fingerprint.

Published
1997

11. A novel missense mutation (Thr176?IIe) at the putative hinge of the neo N-terminus of activated protein C

Author

David Neil Cooper, Pier Mannuccio Mannucci, C. Legnani, Wolfgang Kühnau, A. I. Wacey, Michael Krawczak, Vijay V. Kakkar, and Paula J. Hallam

Subjects
Adult, Models, Molecular, Threonine, Protein Folding, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Pregnancy, Genetics, medicine, Humans, Point Mutation, Missense mutation, Amino Acid Sequence, Isoleucine, Peptide sequence, Genetics (clinical), Mutation, Base Sequence, Point mutation, Protein C Deficiency, Molecular biology, Enzyme Activation, N-terminus, Biochemistry, Female, Protein folding, Oxyanion hole, Protein C, medicine.drug
Abstract

We describe the detection of a novel missense mutation (Thr176-->Ile) that is located at the neo N-terminus of activated protein C. The Thr176-->Ile substitution leads to a type 1 deficiency state. Evidence is presented suggesting that this residue plays a role in pivoting the N-terminus of protein C to fold into the oxyanion hole.

Published
1995

12. Distribution of human adult lactose phenotypes in Egypt

Author

Wolfgang Kühnau, Gebhard Flatz, Laila Hussein, and Sibylle D. Flatz

Subjects
Adult, Male, Veterinary medicine, Adolescent, medicine.medical_treatment, Biology, chemistry.chemical_compound, Lactose Intolerance, Gene Frequency, Lactose Tolerance Test, Genetics, medicine, Humans, Lactose tolerance test, Lactose, Nile delta, Genetics (clinical), medicine.diagnostic_test, business.industry, Age Factors, virus diseases, Lactase, Biological evolution, beta-Galactosidase, Biological Evolution, Biotechnology, Diet, Galactosidases, Phenotype, chemistry, Gene Expression Regulation, Egypt, business, Hydrogen breath test
Abstract

Lactose absorption was studied in 570 health adolescent and adult males in Egypt. Employing a field version of the noninvasive hydrogen breath test, 156 (27.4%) lactose absorbers and 414 (72.6%) lactose malabsorbers were identified. The age-specific prevalence of the lactose phenotypes indicated that lactase repression is complete at the age of 14 years in Egyptians. The regional distribution showed significant differences between the Nile Delta and the northern and southern part of Upper Egypt. The existence of a north-south gradient of decreasing frequencies of the hypolactasia gene from the Nile Delta to the Sudan is suggested.

Published
1982

13. Pulmonary hydrogen and methane excretion following ingestion of an unabsorbable carbohydrate: a study of twins

Author

G. Flatz, Wolfgang Kühnau, Julia Métneki, A. Czeizel, S. D. Flatz, and D. Jahn

Subjects
Adult, Male, medicine.medical_specialty, Biometry, Population, Twins, Methane, Intestinal absorption, Excretion, Lactulose, chemistry.chemical_compound, Internal medicine, medicine, Dietary Carbohydrates, Twins, Dizygotic, Ingestion, Humans, Lactose, education, Lung, education.field_of_study, business.industry, Gastroenterology, Twins, Monozygotic, Heritability, Endocrinology, chemistry, Intestinal Absorption, Pediatrics, Perinatology and Child Health, Female, business, medicine.drug, Hydrogen
Abstract

Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excreted large amounts of hydrogen between 90 and 180 min after lactulose administration. Methane excretion in the fasting state was observed in 124 of 228 of the probands (54.4%), and 68 of 228 (29.8%) produced additional methane in response to lactulose ingestion. In contrast to hydrogen production, both methane excretion and production were significantly more frequent in females than in males. In the total group, and more distinctly in females, the correlation between peak hydrogen and methane concentrations was negative. Twin concordance of fasting methane excretion and lactulose-induced methane production was near 70% in both MZ and DZ pairs. Heritability estimates of methane excretion and production based on intrapair correlation and variance were smaller than unity, and intrapair correlation coefficients were larger in twin pairs living apart than in those living in the same household. Methane excretion is comparatively frequent in the Hungarian population, and a substantial proportion of fasting methane excreters (55%) produce additional methane from lactulose. The sex difference of methane excretion appears to be characteristic of European populations. The twin data disprove regular Mendelian inheritance of methane production and are suggestive of genetic effects in a multifactorial system.

Published
1985

14. Prevalence of primary adult lactose malabsorption in three populations of northern China

Author

Y S Yan, Gebhard Flatz, R F Du, Y G Wang, Wolfgang Kühnau, J J Xu, and Sibylle D. Flatz

Subjects
Adult, Male, China, Malabsorption, Adolescent, Physiology, Biology, Inner mongolia, chemistry.chemical_compound, Lactose Intolerance, Lactose Tolerance Test, Genetics, medicine, Ethnicity, Humans, Lactose tolerance test, Lactose, Genetics (clinical), Lactose intolerance, Mongolia, Carbohydrate, medicine.disease, Kazakhstan, Phenotype, chemistry, Biochemistry, Absorption capacity, Female
Abstract

Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16-46 years) using a field version of the lactose tolerance test with breath hydrogen determination. In the total sample, 89 lactose absorbers and 552 lactose malabsorbers were identified. Lactose malabsorption was most frequent in a subgroup of Han (Chinese) from northeastern China (229 of 248 subjects, 92.3%). Among 198 Mongols from Inner Mongolia, there were 174 lactose malabsorbers (87.9%). The frequency of lactose malabsorption was lowest in a group of Kazakhs, traditional herders from the northwestern region of Xinjiang (149 of 195 subjects, 76.4%). Reported symptoms of lactose intolerance were significantly more frequent in lactose malabsorbers. The findings in northern Han are similar to the reported lactose malabsorption frequency in southern (mainly overseas) Chinese, and correspond with the absence of animal milk from traditional Chinese diets. The relatively low prevalence of lactose malabsorption among the Kazakhs suggests that lactose persistence may be frequent in herding pastoralist populations of southwest Asia.

Published
1984

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