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1. Functional characteristics of LDL particles derived from various LDL-apheresis techniques regarding LDL-drug-complex preparation.

Author

HW Schultis, H von Baeyer, H Neitzel, and E Riedel

Subjects
Biochemistry, QD415-436
Abstract

Low density lipoproteins (LDL) have the potential to serve as cell specific drug carriers. The LDL may be derived in large quantities from LDL-apheresis procedures. Therefore, LDL particles isolated from the waste of three types of LDL-apheresis were investigated concerning their functional integrity in cell transport tests. LDL particles obtained from dextran sulfate-apheresis (DSA) and heparin extracorporeal lipoprotein precipitation (HELP)-LDL-apheresis are capable of specific internalization into HepG2 cells via the apoB receptor pathway. DSA-LDL-apoB appears to be split into two fragments as judged by SDS gel-polyacrylamide gel electrophoresis without changing transport behavior. Membrane differential filtration (MDF)- and HELP-derived LDL particles showed parallel transport behavior and electrophoretic mobility. Acetylated LDL particles obtained from MDF-LDL-apheresis and from blood donation plasma were transported into P388-macrophages via the scavenger receptor pathway. The results confirm the use of LDL particles from LDL-apheresis as substrates for transformation into drug carriers.

Published
1990
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2. Überleben, medizinische Betreuung und Lebensqualität von Kindern mit Trisomie 13 und 18

Author

H. Neitzel, D. Hüseman, Christoph Bührer, Lars Garten, and A. Kusztrich

Subjects
Gynecology, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, business.industry, 030204 cardiovascular system & hematology, medicine.disease, Medical care, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Pediatrics, Perinatology and Child Health, medicine, Trisomy, business, Median survival
Abstract

Hintergrund: Kinder mit Trisomie 13 (T13) und Trisomie 18 (T18) sterben in der Regel fruh, die Beratung ihrer Eltern erfordert moglichst detaillierte Informationen zu Lebenserwartung und Lebensqualitat. Methode: Retrospektive Analyse der an der Kinderklinik der Freien Universitat Berlin (1980–1995) bzw. der Charite (1995–2010) behandelten Neugeborenen mit zytogenetisch diagnostizierter T13-oder T18. Mutter von T13-oder T18-Kindern, die mindestens 3 Monate gelebt hatten, wurden gebeten, Fragebogen zur psychomotorischen Entwicklung und Lebensqualitat ihrer Kinder auszufullen und die erfahrene medizinische Betreuung in einem Interview darzustellen. Ergebnisse: Bei 18 Kindern mit T13 und 18 Kindern mit T18 betrug die mittlere Uberlebenszeit 5 Tage (T13) bzw.19 Tage (T18), bei 2 bzw. 3 T13/T18-Kindern fehlten die Angaben. Ein T13 und 2 T18-Kinder lebten langer als ein Jahr. Von den Muttern der 5 Kinder, die mindestens 3 Monate alt geworden waren (3x T13, 2x T18), schilderten 4 ihre Kinder als freundlich und ausgeglichen. Diese Mutter berichteten uber Entwicklungsfortschritte und bejahten aktiv die zahlreichen stationaren und ambulanten medizinischen Masnahmen. Bedauert wurde das Fehlen einer zentralen arztlichen Fuhrung und einer aktiv angebotenen psychologischen Betreuung. Schlussfolgerung: Mehr als ein Zehntel der Kinder mit T13 oder T18 leben mehr als 3 Monate, ihre Lebensqualitat wird von den Muttern uberwiegend positiv bewertet.

Published
2016
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3. [Survival, Medical Care and Quality of Life in Children with Trisomy 13 and 18]

Author

A, Kusztrich, D, Hüseman, L, Garten, H, Neitzel, and C, Bührer

Subjects
Chromosomes, Human, Pair 13, Trisomy 13 Syndrome, Infant, Newborn, Infant, Mothers, Chromosome Disorders, Trisomy, Life Expectancy, Professional-Family Relations, Cause of Death, Germany, Quality of Life, Humans, Chromosomes, Human, Pair 18, Trisomy 18 Syndrome
Abstract

While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life.30-year single-center retrospective chart analysis (1980-2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant's quality of life and talk about their experiences with medical staff.Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved. Median survival times were 5 d for T13 and 19 d for T18. One T13 and 2T18 children survived past 1 year. Out of 5 mothers whose infants had survived at least 3 months, 4 described their infant as friendly, happy and peaceful. They observed some degree of psychomotor development and were in favour of the numerous medical and surgical interventions performed. They wished to have had a doctor coordinating these interventions and missed an active offer for psychological help.While most infants with T13 or T18 die as neonates, mothers of infants surviving longer periods of time have positive memories about their infants' quality of life.

Published
2016

5. Jacobsen Syndrome and Beckwith-Wiedemann Syndrome Caused by a Parental Pericentric Inversion inv(11)(p15q24)

Author

Dorothea Gadzicki, Holger Tönnies, Karl Welte, A. Baumer, Doris Steinemann, H. Neitzel, Christoph M. Happel, Brigitte Schlegelberger, E. Wey, Christoph Klein, and Cornelia Rudolph

Subjects
Male, Monosomy, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Chromosome Disorders, Trisomy, Trigonocephaly, Chromosomal rearrangement, Biology, Genetics, medicine, Humans, Abnormalities, Multiple, Jacobsen syndrome, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomal inversion, Chromosomes, Human, Pair 11, Infant, Karyotype, Syndrome, medicine.disease, Phenotype, Karyotyping, Chromosome Inversion, Chromosome Deletion
Abstract

Here we report on a male infant presenting the typical pattern of Jacobsen syndrome including trigonocephaly, thrombocytopenia, congenital heart defect, urethral stenosis, and partial agenesis of the corpus callosum. Conventional karyotyping, FISH, SKY and CGH analyses showed that the region distal to the MLL locus on 11q23 was lost and replaced by the distal region of 11p, leading to a partial trisomy of 11p and a partial monosomy of 11q. According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1). Array-CGH analysis allowed us to narrow down the breakpoints to 11p15.1 and 11q24.1. Methylation analyses of genes located on 11p showed an increased level of the non-methylated paternal allele of the KCNQ1OT1 gene, confirming the concomitant presence of Beckwith-Wiedemann syndrome (BWS). The phenotype resulting from the 11q deletion seems to dominate the phenotype due to the distal 11p trisomy. Investigation of the parents revealed that this chromosomal rearrangement was caused by a paternal pericentric inversion inv(11)(p15q24). Since chromosomal aberrations like the one described here can easily be overlooked during routine chromosome analysis, combined FISH analysis using subtelomeric and possibly additional probes should be applied if there is any doubt about the integrity of telomeric regions.

Published
2006
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6. Kongenitaler melanotischer neuroektodermaler Tumor

Author

M. Guschmann, H. Neitzel, G. Schmidt, B. Stöver, M. von Wickede, and H. Tönnies

Subjects
Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Surgery, business
Abstract

Kongenitale melanotische neuroektodermale Tumoren (MNT) sind extrem seltene Tumoren des Kindesalters. Sie lassen sich aufgrund der mikroskopischen Befund deskriptiv der Gruppe der klein- und blauzelligen Tumoren zuordnen. Es handelt sich um Neoplasien mit uberwiegend benignem Verlauf, Auftreten in den ersten Lebensmonaten und Lokalisation in der Maxilla. Die Atiologie dieser Tumoren ist noch nicht vollstandig geklart, eine Abstammung von Zellen der Neuralleiste wird jedoch favorisiert. Die Diagnosestellung gelingt immunhistochemisch bei Koexpression melanozytarer und epithelialer Antigene. Differenzialdiagnostisch sind weitere klein- und blauzellige Tumoren abzugrenzen, so bspw. das Ewing-Sarkom, das Neuroblastom, der PNET oder maligne Lymphome. Therapie der Wahl ist die komplette Tumorresektion. Wir stellen den Fall eines 3 Monate alten Kindes mit ungewohnlicher Rezidivneigung eines MNT vor. Molekularzytogenetische Untersuchungen blieben ohne Nachweis numerischer oder struktureller Chromosomenimbalancen. Erstmals wurde ein MNT hinsichtlich der Expression von Wachstumsfaktoren untersucht. Es zeigte sich eine kraftige Expressionen des Wachstumsfaktors VEGF innerhalb der neuroblastaren Tumorzellen. Angiotensinogen-1 wurde verstarkt innerhalb der melanozytaren Tumorzellen exprimiert.

Published
2005
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7. Title Pages / Contents

Author

H.A. Wichman, A. Bardhan, D.A. Parish, M. Rábová, R. Wimmer, A. Banaszek, C.A. Redi, S. Garagna, Terence J. Robinson, D.W. Burt, T.L. Lear, C. Tease, Z. Taib, H. Neitzel, S. Henschel, B.A. Reutter, L. Granjon, W. Vogel, R.M. Jones, B. Sicard, S. Fedyk, E. Sjöstrand, Patricia C. M. O’Brien, J.S. Heslop-Harrison, H. Guedes-Pinto, P.G. Johnston, F. Ståhl, S. Santos, Polina L. Perelman, J.-F. Ducroz, N.B. Rubtsov, R. Chaves, W. Just, T. Raudsepp, H. Brünner, M. Hakhverdyan, N. Ihara, S. Röttger, W. Feichtinger, B.M.N. Wallace, Å. Sjöling, I. Nanda, N. Bogdanchikova, W.R. Harrison, P.M. Mirol, R. Visbal García, C. Mais, S.-I. Kawada, T. Sharma, M. Bahadur, T. Ashley, M. Lombard, V. Aniskin, Natalya A. Serdukova, E. Lecompte, P. Vise, J. Hausser, M.A. Hultén, P. Mariani, G. Dobigny, H. Kühl, A.P. Singh, J.A. Marshall Graves, J. Britton-Davidian, V. Volobouev, R.J. Baker, M.J. Puertas, N.V. Vorobieva, V. Kalscheuer, J.J. Bull, K.M. Mendoza, U. Arnason, L.E. Jensen, P. Gómez-Fabre, C.J. Metcalfe, M. Schmid, T.V. Karamysheva, Jan Zima, M. Morgan-Richards, G. Levan, W. Chetnicki, A. Janke, Y.M. Borissov, O.V. Andreenkova, P. Nová, H. Hameister, K.M. Reed, F. Yang, M.D. Giménez, J.B. Searle, W. Schempp, K. Klinga-Levan, E. Capanna, M.D.B. Eldridge, K. Belkhir, D.A. Martí, T. Haaf, A. Fernández Badillo, A.L. Barlow, F. Adega, Larisa S. Biltueva, B.P. Chowdhary, U. Fiedorczuk, J. Catalan, Alexander S. Graphodatsky, C.A. Everett, V.T. Volobouev, B.S. Milne, F.A. Ponce de León, R. Bellavia, K. Sperling, N.O. Bianchi, A. Behboudi, B. Schreiner, C.W. Beattie, G.L. Bennett, I. Reisert, M.A. Ferguson-Smith, N. Lugon-Moulin, V.M. Aniskin, K.A. Szałaj, C.J. Bidau, M. Corti, B. Fu, M. Zuccotti, C. Steinlein, M.N. Bochkaerev, A. Baumstark, R. Castiglia, Pavel M. Borodin, and Y. Sugimoto

Subjects
Genetics, Library science, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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8. Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation

Author

Ulrich-Frank Pape, H Neitzel, H Tönnies, Bertram Wiedenmann, C Ramel, M R Toliat, and Wolfgang Berger

Subjects
Adult, Male, Candidate gene, Adolescent, Aneuploidy, Neuroendocrine tumors, Biology, digestive system, Genome, Article, Gene duplication, medicine, Humans, Aged, Gastrointestinal Neoplasms, Chromosome Aberrations, Genetics, fungi, Gene Amplification, Gastroenterology, Nucleic Acid Hybridization, Chromosome, Midgut, Foregut, Middle Aged, medicine.disease, Pancreatic Neoplasms, Neuroendocrine Tumors, Female, Chromosome Deletion
Abstract

BACKGROUND—Chromosomal instability is observed in a wide spectrum of human cancer syndromes. However, to date, little is known of the characteristic genetic changes in sporadic neuroendocrine tumours of the gastroenteropancreatic system. AIMS AND METHOD—We have studied copy number aberrations (CNAs) in 26 sporadic neuroendocrine tumours of the enteropancreatic system (12 foregut and 14 midgut tumours) by comparative genomic hybridisation (CGH), allowing simultaneous evaluation of the entire tumour genome. RESULTS—Nearly all tumours (25/26; that is, 96%) showed chromosomal imbalances, including full chromosomal aneuploidies, losses and gains of chromosome arms, interstitial deletions, and amplifications. Whereas gains of chromosomes 4, 5, and 19 were found in both foregut and midgut tumours, gains of chromosomes 20q (58%), 19 (50%), as well as 17p (50%), and partial losses of chromosomes 1p (42%), 2q (42%), 3p, 4q, and 6q (25% each) were frequently observed only in foregut tumours. In contrast, midgut tumours displayed less CNAs. Gains were detected for chromosomes 17q and 19p (57%). Most frequent losses affected chromosomes 18 (43%) and 9p (21%). CONCLUSIONS—The results of our CGH analyses revealed new distinct candidate regions in the human genome associated with sporadic neuroendocrine tumours. Some of the genetic alterations were shared by foregut and midgut tumours while others discriminated between the two groups. Thus our results allude to the involvement of identical as well as discriminative genetic loci in tumorigenesis and progression of neuroendocrine neoplasms of the foregut and midgut. Based on these findings potential new candidate genes will be discussed. Keywords: gastroenteropancreatic tumours; comparative genomic hybridisation; foregut; midgut

Published
2001
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9. Früher neonataler Tod bei Drash-Syndrom

Author

H. Neitzel, Thomas Lennert, M. Guschmann, M. Vogel, B. Royer-Pokora, and Valérie Schumacher

Subjects
Gynecology, medicine.medical_specialty, business.industry, Recien nacido, Pediatrics, Perinatology and Child Health, medicine, Mesangial proliferative glomerulonephritis, Surgery, Glomerulonephritis, Congenital disease, medicine.disease, business, Kidney disease
Abstract

Berichtet wird uber ein phanotypisch weibliches Neugeborenes der 37. SSW, welches unter dem Bild einer Niereninsuffizienz am 14. Lebenstag verstarb. Das Kind zeigte einen normalen mannlichen Chromosomensatz von 46 XY und eine ungewohnlich stark ausgepragte, diffuse Mesangiosklerose mit interstitieller Nephritis. Molekulargenetische Untersuchungen sicherten die Diagnose eines Drash-Syndroms. Diskussion: Das Drash-Syndrom ist ein seltenes sporadisch auftretendes Krankheitsbild mit Glomerulopathie, urogenitalen Fehlbildungen und Wilms-Tumor-Risiko. Die Glomerulopathie ist das klinische Leitsymptom. In der Regel entwickelt sich binnen des 1. Lebensjahrs eine Niereninsuffizienz.

Published
1998
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10. Selected bibliography of Susumu Ohno

Author

D. Meschede, W. Schempp, W. Traut, J. Klein, T.W. Glover, S.J. Palmer, J.T. Epplen, E.J.M. Santos, B.R. Migeon, R. Toder, J. Horst, M. Guttenbach, G. Bonnet, T. Matsunaga, C.V. Beechey, B. Choudhary, M. Cohn, D. Weichenhan, S. Ball, G. Bernardi, S. Lautsch, H. Winking, T. Vogel, E.Y. Cheng, K. Benirschke, N. Nassar, U. Wolf, J. Schmidtke, L.-S. Correa-Cerro, M. Sugimoto, W. Beçak, B. Kerem, T. Sharma, S.S. Wachtel, J. Zhang, A.T. Midro, K. Sperling, C. O’hUigin, V.V. Kapitonov, R. Lesniewicz, S.K. Mahadevaiah, W.R. Harrison, C. Geerkens, C. Dixkens, W. Just, H. Shibata, R.M. Cabrera, C.M. Disteche, M. Schartl, N. Zhdanova, J.A.M. Graves, U. Drews, S. Saccone, G.P. Holmquist, D.K. Lamatsch, M.F. Lyon, S. Zeitler, S.K. Davis, K. Bender, C. Klett, J. Bruch, G.G. Sharma, M.L. Houck, S. Henschel, N. Takagi, A.T. Kumamoto, R. Raman, H. Neitzel, P.S. Burgoyne, M. Erdel, O.L. Serov, A. Kollak, S. Jainta, S. Mizuno, Y. Hayashizaki, J. Jurka, F.A. Ponce de León, W. Rietschel, Y. Narain, B. Kunze, V. Kalscheuer, C. Ebenhoch, G. Beller, W. Rau, M. Held, A. Baumstark, J. Parzefall, T.J. Robinson, M. Digweed, S. Schmidt Drury, S.M. Gartler, M. Döbler, G. Wanner, Y.-F.C. Lau, H. Hameister, M.L. Beçak, H. Ogura, Y.-J. Chen, S. Takada, F.F.B. Elder, S. Ganesh, A. Ashworth, G. Scherer, K. Fredga, A. Sato, J. Perry, W. Vogel, I. Nanda, W. Mäueler, N. Mise, B.M. Cattanach, W. Feichtinger, H. Macgregor, R.P. Erickson, C. Federico, N.B. Atkin, S.-S. Tan, M. Schmid, I. Schlupp, K.M.S. Townsend, and C. Steinlein

Subjects
Evolutionary biology, Genetics, Bibliography, Animals, Humans, History, 20th Century, Biology, Molecular Biology, United States, Genetics (clinical), Genealogy
Published
1998
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11. Contents Vol. 114, 2006

Author

I. Solovei, W. Jonat, B. Schlegelberger, H. Stöcklein, J. Schubert, J. Vermeesch, C. Bittner, H.H.Q. Heng, J.-P. Fryns, D. Gisselsson, T. Liehr, T. Hardt, B. Andréo, M. Cohen, F. Pellestor, S. Michel, K. Junker, M. Grigoriadou, B. Farren, A. Gerlach, L. Kearney, G. Lefort, C. Sarri, R. Hastings, P. Paulasova, M. Cremer, C. Rudolph, M. Schmid, B. Thienpont, A.N. Pursley, H.F. Zitzelsberger, J. Walter, P. Zschieschang, A. Helmrich, M. Stumm, H. Mkrtchyan, K. Devriendt, V. Trifonov, S.A. Romanenko, Y. Stewénius, A. Theisen, M.R. Speicher, L.G. Shaffer, Y. Ito, Steven W. Bremer, K. Müller, C.J. Ye, U. Heinrich, M. Gewillig, J. Wiegant, R.C. Dunn, S. Zhang, S. Borell-Kost, T.B. Tuton, N. Arnold, J.F. Weier, A. Kuechler, B.A. Bejjani, M. Gross, T. Abe, L.W. Chu, U. Wedding, M. Stötter, A.C. Feller, H. Tönnies, C. Ferlatte, M. Glaser, A. Barnicoat, E. Leich, V.K. Maloney, A. Baumgartner, M.L. Cooper, S. Darilek, D.E. Mensing, J. Weimer, A. Matthaei, D.A. Pflumm, T. Fritsch, S.J. Fisher, Y. Gyftodimou, R.H. Martin, M.B. Petersen, C. Karst, A. Bolzer, K. Stout-Weider, K.J. Ye, P. O’Brien, B. Heineking, C. Steinlein, W.S. Wun, L.M. Neumann, K. Mrasek, A.K. Raap, S. Singer, S.W. Cheung, C.J. Jung, A. Weise, Joshua B. Stevens, H.J. Tanke, N.V. Rumyantseva, G. Ott, H. Eckel, T. Cremer, A. Heller, U. Wiedemann, S. Müller, P. Adam, M. Oliver-Bonet, H. Merz, M. Bloechle, S. Hamamah, N. Kosyakova, H. Kokotas, J.C.K. Barber, H. Neitzel, H. Starke, S. Kalogirou, I. Fickelscher, A. Rosenwald, E. Haralambieva, L. Brecevic, H.K. Müller-Hermelink, Thomas Liehr, H.-U.G. Weier, A.L. Collins, P.A. Benedetti, F. Yang, C.D. Kashork, R.-D. Wegner, S. Ye, R.A. Pedersen, U. Steinhaeuser, N. Friend, R. Aroutiounian, A. Dufke, J. Wienberg, H.-N. Nguyen, J. Benet, H. Enders, H. Albiez, A. Hartmann, B. Joffe, W. Schulze, E. Schrock, S.C. Angus, U.A. Mau-Holzmann, A.D. Polityko, E. Pandelia, G.M. Grunert, F. Hunstig, K. Höffken, N. Kakazu, G. Liu, and C.-M. Lu

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2006
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13. Bibliography of Karl Fredga

Author

K. Klinga-Levan, J. Hausser, E. Capanna, M.J. Puertas, H. Neitzel, N. Ihara, D.A. Martí, U. Fiedorczuk, V.T. Volobouev, B.S. Milne, H. Kühl, L.E. Jensen, W.R. Harrison, S. Henschel, F. Ståhl, W. Vogel, R.M. Jones, A. Behboudi, B. Schreiner, C.W. Beattie, B.A. Reutter, T.V. Karamysheva, G.L. Bennett, B. Fu, P. Vise, W. Schempp, O.V. Andreenkova, T. Haaf, A.L. Barlow, Larisa S. Biltueva, C. Mais, G. Levan, M.D.B. Eldridge, I. Reisert, S. Röttger, C. Steinlein, F. Yang, M.D. Giménez, R.J. Baker, J. Catalan, Natalya A. Serdukova, M.N. Bochkaerev, A. Janke, Polina L. Perelman, U. Arnason, B. Sicard, E. Sjöstrand, S. Santos, W. Just, T. Raudsepp, R. Chaves, J.A. Marshall Graves, Pavel M. Borodin, Y. Sugimoto, W. Feichtinger, A. Bardhan, D.A. Parish, M. Rábová, J.B. Searle, C. Tease, Y.M. Borissov, E. Lecompte, H. Brünner, P. Nová, T. Sharma, Terence J. Robinson, D.W. Burt, T.L. Lear, J. Britton-Davidian, I. Nanda, H. Guedes-Pinto, N. Lugon-Moulin, V.M. Aniskin, K.M. Mendoza, H.A. Wichman, P. Gómez-Fabre, K. Sperling, N.O. Bianchi, K.A. Szałaj, P.G. Johnston, Patricia C. M. O’Brien, S.-I. Kawada, Å. Sjöling, S. Garagna, H. Hameister, R. Wimmer, V. Aniskin, K.M. Reed, A. Baumstark, A. Banaszek, P. Mariani, M. Lombard, C.A. Redi, S. Fedyk, R. Castiglia, A.P. Singh, J.J. Bull, J.S. Heslop-Harrison, N.B. Rubtsov, M. Morgan-Richards, R. Bellavia, K. Belkhir, L. Granjon, N.V. Vorobieva, V. Kalscheuer, G. Dobigny, A. Fernández Badillo, J.-F. Ducroz, R. Visbal García, C.J. Bidau, M. Corti, M. Zuccotti, M.A. Ferguson-Smith, M.A. Hultén, W. Chetnicki, M. Hakhverdyan, B.M.N. Wallace, N. Bogdanchikova, P.M. Mirol, M. Bahadur, T. Ashley, Z. Taib, V. Volobouev, C.J. Metcalfe, M. Schmid, F. Adega, B.P. Chowdhary, Alexander S. Graphodatsky, C.A. Everett, F.A. Ponce de León, and Jan Zima

Subjects
Genetics, Bibliography, Biology, Molecular Biology, Genetics (clinical), Classics
Published
2002
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14. Massive Plazentahämorrhagie bei Partialmole infolge einer Hypotriploidie (68,XX) - Pränatale Diagnose und klinischer Verlauf 1

Author

Wolfgang Henrich, A. Schmider, N. Sarioglu, and H. Neitzel

Subjects
Gynecology, medicine.medical_specialty, Fetus, business.industry, Obstetrics, Clinical course, Obstetrics and Gynecology, Karyotype, Prenatal diagnosis, Placental hemorrhage, Maternity and Midwifery, Pediatrics, Perinatology and Child Health, medicine, Etiology, Gestation, Hypotriploidy, business
Abstract

BACKGROUND Triploidy describes the presence of threefold haploid chromosome set and is a frequent cause of early abortion. Only few pregnancies reach the second trimester. CASE REPORT Prenatal diagnosis of a fetus in the 28th week of gestation with a hypotriploidy and with characteristic ultrasonographic features is presented. An enlarged placenta with molar changes, an oligohydramnion, severe growth retardation and minor cardiac anomalies were observed by ultrasound. Before prenatal karyotyping could be performed, immediate cesarian section was necessary due to massive intraplacentar hemorrhage resulting in a decrease of the hemoglobin level. The diagnosis of triploidy was confirmed postnatally by cytogenetic analysis of lymphocytes, the child died after 3 days. DISCUSSION Ultrasonographic and clinical features for the diagnosis of triploidy are presented. Etiology of the rare karyotype 68,XX is discussed.

Published
2001
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15. Contents Vol. 93, 2001

Author

T. Brueckmann, W. Brenner, M. Steinemann, W. Vogel, S. Schlaubitz, C. Zühlke, M. Lombard, F. Boán, K. Benirschke, S. Naumann, S.W. Bremer, C. Steinlein, S. Steinemann, F. Richard, P.D. Thomsen, M. Yerle, K.D. Zang, Z. Docherty, C. Amid, K. Mrasek, I. Schubert, M. Mende, I. Nanda, T. Paiss, C. Genêt, L.J. Peelman, I. Chudoba, M. Hughes, R.-D. Wegner, U. Claussen, L. Sánchez, B. Seipel, F. Grützner, F.J. García-Cozar, D. Prawitt, B.U. Zabel, J.L. Wright, A. Van Zeveren, K. Stout, V. Kalscheuer, M. Stumm, R.V. Rambau, N. Reissmann, D.S. Gallagher, B. Zabel, A. Ishikawa, C. Messaoudi, A.T. Kumamoto, E.C. Akeson, A. Mujica, A. Dalski, P. Kaiser, T. Liehr, J.G. Scammell, S. Bremer, C. Pfeifer, S. Munsche, M.M. Valdivia, M. Van Poucke, M. Schmid, C.M. Tuck-Muller, H. Starke, F. Domínguez, Y. Matsuda, S. Störkel, C.G. Mathew, F.F.B. Elder, S. Narayanswami, H. Scherthan, J. Decker, E. Schwinger, A. Niveleau, V. Trifonov, H. Mayrhofer, J. Gómez-Márquez, J.P. Lambert, S.-E. Bikar, E. Zend-Ajusch, L.J. Bechtel, T. Haaf, Y.A. Wang, A. Viñas, C. Iglesias, C. Mackie Ogilvie, A. Bahr, T. Nagase, A. Dufke, H.H.Q. Heng, A. Winterpacht, W. Lu, T.J. Robinson, C. Maier, K. Matsubara, A. Heller, A. Kuroiwa, M. Rocchi, B. Dutrillaux, C.J. Ye, N. Nomura, N. Rubtsov, E.R. Schmidt, T. Namikawa, M.T. Davisson, C. Tuggle, K. Gardiner, H. Enders, G. Liu, M. Buceta, H. Hanson, H. Hauser, N. Sampson, H. Neitzel, P.D. Waters, T. Hankeln, H. Tönnies, C. Pendón, J. Bolívar, M.L. Houck, D. Reutzel, M. Leipoldt, A. Cichutek, P. Moens, J.A.M. Graves, P.J. Kirby, B. Maurer, A. Astola, S.A. Krawetz, and F. Piumi

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2001
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18. Analysis of the S810L point mutation of the mineralocorticoid receptor in patients with pregnancy-induced hypertension

Author

Angela Reles, W. Henrich, M. Krause, M. Wirsing, Joachim W. Dudenhausen, H. Neitzel, U. Büscher, and Annette Schmider‐Ross

Subjects
medicine.medical_specialty, Hypertension in Pregnancy, Pregnancy Complications, Cardiovascular, Mutation, Missense, Gene mutation, Exon, Mineralocorticoid receptor, Pregnancy, Internal medicine, Internal Medicine, medicine, Missense mutation, Humans, Point Mutation, Codon, Maternal Welfare, business.industry, Point mutation, Obstetrics and Gynecology, Exons, medicine.disease, Probability Theory, Endocrinology, Receptors, Mineralocorticoid, Mutation (genetic algorithm), Hypertension, Female, business
Abstract

A missense mutation at codon 810 (Ser --Leu) of the mineralocorticoid receptor was recently observed in a family with early manifestation of hypertension. Our objective was to determine if this mineralocorticoid receptor alterations is prevalent in patients with pregnancy-induced hypertension.Thirty-eight women with hypertension during pregnancy were tested for the mineralocorticoid receptor gene mutation. DNA was extracted out of blood leucocytes. PCR and automated DNA sequencing were used to analyze exon 6 for the S810L missense mutation. Anamnestical data concerning cardiovascular risk factors and family history were evaluated with a questionnaire. Pregnancy course and outcome were documented in all cases.In 33 patients with pregnancy-induced hypertension and in five patients with exacerbation of preexisting hypertension in pregnancy no point mutations were found at codon 810 in exon 6.Our data suggest that the S810L missense mutation of the mineralocorticoid receptor does not play a major role in the etiology of pregnancy-induced hypertension in a German /Turkish population.

Published
2004

19. Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of Microtus agrestis

Author

H, Neitzel, V, Kalscheuer, A P, Singh, S, Henschel, and K, Sperling

Subjects
Male, Genome, Sex Chromosomes, X Chromosome, Retroelements, Transcription, Genetic, Arvicolinae, Chromosome Mapping, Mitosis, DNA, Chromosome Banding, Animals, Newborn, Heterochromatin, Sequence Homology, Nucleic Acid, Oocytes, Animals, Female
Abstract

Mobile elements are most abundant in the mammalian genome, comprising at least 40-50% of the DNA. They are differentiated into two most prominent families: the LINE elements, which are preferentially located in the G-bands, and SINES, which are clustered in the R-bands. We report here a novel mammalian non-L1-retroposon, which invaded the genome of Microtus agrestis in a very short time from an evolutionary viewpoint. No relevant sequence homology could be demonstrated to known sequences in the NCBI database. However, cross-hybridizing sequences exist in the genomes of all other Microtus species analyzed, but not in Mus musculus, indicating the recent evolutionary origin of this element. This retroposon is enriched in the entire heterochromatin of the X and Y chromosomes, but is also interspersed in autosomal locations in euchromatic portions of the genome. We show that the retroposon is heavily transcribed from the heterochromatin during female meiosis prerequisite for the subsequent retrotransposition. The estimated rate of retrotransposition is at least 1-2 x 10(-2) per generation, which is hundred-fold higher than that of the majority of invertebrate retroposons and also higher than the transposition rate of a murine L1 element, which was calculated to be 3 x 10(-3) per generation.

Published
2002

20. [Massive placental hemorrhage in partial molar pregnancy due to hypotriploidy (68,XX)--prenatal diagnosis and clinical course]

Author

W, Henrich, A, Schmider, N, Sarioglu, and H, Neitzel

Subjects
Adult, Placenta Diseases, Ploidies, Pregnancy, Karyotyping, Placenta, Pregnancy Trimester, Second, Humans, Abnormalities, Multiple, Female, Hemorrhage, Hydatidiform Mole
Abstract

Triploidy describes the presence of threefold haploid chromosome set and is a frequent cause of early abortion. Only few pregnancies reach the second trimester.Prenatal diagnosis of a fetus in the 28th week of gestation with a hypotriploidy and with characteristic ultrasonographic features is presented. An enlarged placenta with molar changes, an oligohydramnion, severe growth retardation and minor cardiac anomalies were observed by ultrasound. Before prenatal karyotyping could be performed, immediate cesarian section was necessary due to massive intraplacentar hemorrhage resulting in a decrease of the hemoglobin level. The diagnosis of triploidy was confirmed postnatally by cytogenetic analysis of lymphocytes, the child died after 3 days.Ultrasonographic and clinical features for the diagnosis of triploidy are presented. Etiology of the rare karyotype 68,XX is discussed.

Published
2001

21. Establishment and characterization of an immortalized human sebaceous gland cell line (SZ95)

Author

C C, Zouboulis, H, Seltmann, H, Neitzel, and C E, Orfanos

Subjects
Chromosome Aberrations, Sebaceous Glands, Phenotype, Antigens, Polyomavirus Transforming, Humans, Simian virus 40, Transfection, Lipids, Cell Division, Cell Line
Abstract

Human facial sebaceous gland cells were transfected with a PBR-322-based plasmid containing the coding region for the Simian virus-40 large T antigen. The resulting proliferating cell cultures have been passaged over 50 times to date, have been cloned, and show no signs of senescence after 4DF;1 2 y in vitro, whereas normal human sebocytes can only be grown for three to six passages. The immortalized transfected cells, termed SZ95, expressed the Simian virus-40 large T antigen and presented an hyper-diploid-aneuploid karyotype with a modal chromosome number of 64.5. The SZ95 cell line exhibited epithelial, polymorphous characteristics with different cell sizes of up to 3.25-fold during proliferation and 6-fold at confluence, showing numerous cytoplasmic lipid droplets. The cells showed large cytoplasm profiles with abundant organelles, including vacuoles and myelin figures which indicated lipid synthesis. Lack of or only few desmosomal areas were observed. SZ95 cells expressed molecules typically associated with human sebocytes, such as keratins 7, 13, and 19, and several proteins of the polymorphous epithelial mucin family. Functional studies revealed synthesis of the sebaceous lipids squalene and wax esters as well as of triglycerides and free fatty acids, even after 25-40 passages; active lipid secretion; population doubling times of 52.4 +/- 1.6 h; reduced growth but maintenance of lipid synthesis under serum-free conditions; and retrieval of cell proliferation after addition of 5alpha-dihydrotestosterone. Retinoids significantly inhibited proliferation of certain SZ95 cell clones in the expected magnitude 13-cis-retinoic acidall-trans-retinoic acidacitretin. Thus SZ95 is an immortalized human sebaceous gland cell line that shows the morphologic, phenotypic and functional characteristics of normal human sebocytes.

Published
1999

22. Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20

Author

T, Sander, T, Hildmann, T F, Wienker, C, Ramel, G, Beck-Mannagetta, A, Bianchi, U, Sailer, K, Berek, G, Bauer, H, Neitzel, B, Schmitz, M, Durner, K J, Johnson, and D, Janz

Subjects
Genetic Markers, Male, Epilepsy, Absence, Genetic Linkage, Chromosomes, Human, Pair 20, Chromosome Mapping, Humans, Epilepsies, Myoclonic, Female, Pedigree
Abstract

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). A trait locus (EBN1) for a rare subtype of IGEs, the benign neonatal familial convulsions, and a susceptibility gene (EEGV1) for the common human low-voltage electroencephalogram have been mapped close together with D20S19 to the chromosomal region 20q13.2. Both loci are potential candidates for the susceptibility to IGE spectra with age-related onset beyond the neonatal period. The present study tested the hypothesis that a putative susceptibility locus linked to D20S19 predisposes to spectra of IGEs with age-related onset from childhood to adolescence. Linkage analyses were conducted in 60 families ascertained through IGE patients with juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy. Our results provide evidence against linkage of a putative susceptibility gene for four hierarchically broadened IGE spectra with D20S19 assuming tentative single-locus genetic models. The extent of an "exclusion region" (lod scores below-2) varied from 0.5 cM up to 22 cM on either side of D20S19 depending on the trait assumed. These results are contrary to the expectation that a susceptibility gene in vicinity to D20S19 confers a common major gene effect to the expression of IGE spectra with age-related onset from childhood to adolescence.

Published
1996

23. Contents Vol. 96, 2002

Author

V. Volobouev, W. Schempp, M. Corti, C.J. Metcalfe, M. Schmid, Z. Taib, M.D.B. Eldridge, M. Hakhverdyan, B.M.N. Wallace, N.V. Vorobieva, V. Kalscheuer, A. Bardhan, D.A. Parish, M. Rábová, S.-I. Kawada, T.V. Karamysheva, A. Janke, H. Neitzel, J.B. Searle, V. Aniskin, P. Mariani, U. Fiedorczuk, N. Lugon-Moulin, J. Hausser, C. Tease, S. Henschel, P. Vise, V.T. Volobouev, B.S. Milne, M. Zuccotti, L.E. Jensen, V.M. Aniskin, Terence J. Robinson, B.A. Reutter, N. Bogdanchikova, A. Behboudi, U. Arnason, K.A. Szałaj, F. Adega, B.P. Chowdhary, K.M. Reed, G. Levan, C. Mais, B. Schreiner, M.J. Puertas, G. Dobigny, Alexander S. Graphodatsky, F. Yang, M.D. Giménez, C.A. Everett, S. Fedyk, H. Guedes-Pinto, M.A. Ferguson-Smith, Natalya A. Serdukova, S. Garagna, C.W. Beattie, F.A. Ponce de León, Y.M. Borissov, Patricia C. M. O’Brien, Å. Sjöling, J.A. Marshall Graves, I. Nanda, J.S. Heslop-Harrison, M. Lombard, N. Ihara, H. Brünner, S. Röttger, P.G. Johnston, R. Visbal García, E. Lecompte, J.J. Bull, R. Chaves, T. Sharma, M. Morgan-Richards, B. Sicard, E. Sjöstrand, C.A. Redi, H.A. Wichman, K.M. Mendoza, K. Klinga-Levan, E. Capanna, H. Kühl, S. Santos, G.L. Bennett, L. Granjon, D.W. Burt, T.L. Lear, I. Reisert, R. Bellavia, C.J. Bidau, R. Wimmer, A. Banaszek, O.V. Andreenkova, J. Catalan, W.R. Harrison, T. Haaf, A.L. Barlow, W. Vogel, R.M. Jones, Larisa S. Biltueva, K. Sperling, N.O. Bianchi, R.J. Baker, P. Nová, Polina L. Perelman, W. Just, T. Raudsepp, W. Feichtinger, M.A. Hultén, K. Belkhir, W. Chetnicki, A. Fernández Badillo, N.B. Rubtsov, J. Britton-Davidian, P. Gómez-Fabre, Jan Zima, D.A. Martí, B. Fu, A.P. Singh, C. Steinlein, F. Ståhl, M.N. Bochkaerev, Pavel M. Borodin, Y. Sugimoto, A. Baumstark, R. Castiglia, H. Hameister, P.M. Mirol, M. Bahadur, T. Ashley, and J.-F. Ducroz

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2002
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24. Subject Index Vol. 96, 2002

Author

Å. Sjöling, P.G. Johnston, M. Lombard, J.J. Bull, C. Tease, N. Lugon-Moulin, V.M. Aniskin, V. Volobouev, C.J. Metcalfe, M. Schmid, M. Morgan-Richards, K.A. Szałaj, F. Adega, B.P. Chowdhary, Alexander S. Graphodatsky, C.A. Everett, F.A. Ponce de León, U. Fiedorczuk, P. Vise, S.-I. Kawada, V. Aniskin, H. Guedes-Pinto, V.T. Volobouev, B.S. Milne, K. Klinga-Levan, L. Granjon, Z. Taib, U. Arnason, E. Lecompte, P. Mariani, E. Capanna, B. Fu, P.M. Mirol, M. Bahadur, T. Ashley, S. Röttger, G.L. Bennett, C.A. Redi, I. Reisert, K.M. Mendoza, Y.M. Borissov, A. Behboudi, D.W. Burt, T.L. Lear, J.B. Searle, A. Bardhan, C. Steinlein, B. Schreiner, D.A. Parish, M. Rábová, K. Sperling, H. Neitzel, N.O. Bianchi, M. Hakhverdyan, A.P. Singh, J. Catalan, K.M. Reed, S. Henschel, M.N. Bochkaerev, C.W. Beattie, B.M.N. Wallace, B.A. Reutter, C.J. Bidau, W. Schempp, R.J. Baker, H. Hameister, M.D.B. Eldridge, M.A. Hultén, Pavel M. Borodin, Y. Sugimoto, Polina L. Perelman, J.-F. Ducroz, O.V. Andreenkova, R. Chaves, G. Dobigny, T. Haaf, S. Garagna, F. Ståhl, W. Just, T. Raudsepp, A.L. Barlow, R. Visbal García, Larisa S. Biltueva, S. Fedyk, W. Feichtinger, W. Chetnicki, P. Nová, M.A. Ferguson-Smith, N. Ihara, J.S. Heslop-Harrison, J. Hausser, I. Nanda, T.V. Karamysheva, M. Corti, H.A. Wichman, H. Brünner, H. Kühl, R. Wimmer, A. Janke, A. Banaszek, R. Bellavia, N.V. Vorobieva, V. Kalscheuer, A. Baumstark, M. Zuccotti, M.J. Puertas, W. Vogel, R.M. Jones, S. Santos, R. Castiglia, J. Britton-Davidian, K. Belkhir, A. Fernández Badillo, P. Gómez-Fabre, Jan Zima, D.A. Martí, B. Sicard, E. Sjöstrand, N.B. Rubtsov, Patricia C. M. O’Brien, W.R. Harrison, Terence J. Robinson, T. Sharma, L.E. Jensen, G. Levan, F. Yang, M.D. Giménez, N. Bogdanchikova, C. Mais, Natalya A. Serdukova, and J.A. Marshall Graves

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
2002
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25. Covalent coupling of nucleosides to low density lipoprotein (LDL) generates macrophage specific (drug)-carriers

Author

H, von Baeyer, H, Neitzel, M, Nündel, E, Riedel, and H K, Schultis

Subjects
Drug Carriers, Lysine, Macrophages, Biological Transport, Endocytosis, Lipoproteins, LDL, Mice, Animals, Autoradiography, Humans, Zidovudine, Cells, Cultured, Apolipoproteins B, Thymidine
Abstract

Covalent coupling of thymidine and azidothymidine (ZIDOVUDINE) to epsilon-amino groups of lysine side chains of LDL-Apo B is described. This procedure generates LDL-nucleoside particles that exhibits affinity solely for the scavenger receptor pathway on macrophages which is demonstrated by cell culture experiments. Autoradiography shows that 3H-thymidine, as representative of nucleosides, is delivered to the cell nucleus. Hence internalization, lysosomal cleavage and triphosphorylation of thymidine evidently had occurred. The application of this new method of drug targeting is macrophage selective inhibition of HIV-reverse transcriptase in AIDS.

Published
1993

26. Subject Index Vol. 93, 2001

Author

N. Sampson, W. Lu, H. Neitzel, P.D. Waters, T. Brueckmann, W. Brenner, C. Mackie Ogilvie, A. Heller, H. Tönnies, B. Dutrillaux, M. Steinemann, C. Pendón, J. Bolívar, R.-D. Wegner, M. Lombard, C.J. Ye, A. Ishikawa, E. Zend-Ajusch, T. Nagase, Y.A. Wang, F. Richard, A. Kuroiwa, N. Rubtsov, E.R. Schmidt, C. Tuggle, C. Genêt, K. Gardiner, H. Enders, B. Zabel, A. Van Zeveren, M. Rocchi, H. Scherthan, A. Dalski, R.V. Rambau, J.P. Lambert, K. Stout, A. Dufke, B. Seipel, F.F.B. Elder, J.L. Wright, T. Namikawa, H. Hauser, E. Schwinger, M. Buceta, C. Pfeifer, S. Narayanswami, A.T. Kumamoto, H. Starke, V. Kalscheuer, J.G. Scammell, M. Stumm, K. Matsubara, V. Trifonov, C. Amid, K. Mrasek, G. Liu, A. Bahr, T. Haaf, A. Viñas, C. Iglesias, Z. Docherty, H. Mayrhofer, P. Kaiser, S.-E. Bikar, I. Chudoba, C.M. Tuck-Muller, J. Decker, L.J. Bechtel, H.H.Q. Heng, A. Winterpacht, M.M. Valdivia, C. Messaoudi, D. Reutzel, M. Van Poucke, C. Steinlein, S. Störkel, U. Claussen, T.J. Robinson, J.A.M. Graves, A. Niveleau, F. Grützner, A. Mujica, N. Nomura, W. Vogel, S. Naumann, M. Hughes, E.C. Akeson, S. Steinemann, I. Nanda, S. Bremer, S. Munsche, S.W. Bremer, P.D. Thomsen, F.J. García-Cozar, D. Prawitt, B.U. Zabel, B. Maurer, A. Astola, T. Liehr, F. Domínguez, M.T. Davisson, H. Hanson, T. Hankeln, L.J. Peelman, M.L. Houck, N. Reissmann, Y. Matsuda, J. Gómez-Márquez, M. Leipoldt, A. Cichutek, K.D. Zang, P. Moens, T. Paiss, D.S. Gallagher, M. Schmid, C.G. Mathew, S.A. Krawetz, F. Piumi, S. Schlaubitz, C. Zühlke, F. Boán, K. Benirschke, M. Yerle, I. Schubert, M. Mende, P.J. Kirby, L. Sánchez, and C. Maier

Subjects
Genetics, Index (economics), Subject (documents), Social science, Biology, Molecular Biology, Genetics (clinical)
Published
2001
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27. Psychomental retardierter Patient mit gestörter Okulo- und Statomotorik

Author

T. Müller and H. Neitzel

Subjects
medicine.medical_specialty, Pediatrics, Psychomotor retardation, Vascular disease, business.industry, Eye disease, medicine.disease, Developmental disorder, Immunopathology, Pediatrics, Perinatology and Child Health, Pediatric surgery, Ataxia-telangiectasia, Child and adolescent psychiatry, medicine, Surgery, medicine.symptom, business
Published
2000
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28. Contents Vol. 91, 2000

Author

E. Glauner, C. Baldermann, A. Bardhan, Susumu Ohno, A. Mannan, C. Althaus, R. Brauner, E. Schnakenberg, K. Hirschhorn, W. Krone, G. Williams, B.H.F. Weber, K. Sperling, G.A. Rappold, K.R. Held, J.S. Schinfeld, J. Seidel, H. Guedes-Pinto, H. Berninger, O.J. Miller, M. Kämper, M.J. Wakefield, H.L. Schulz, W.K. Holloman, M. Schmidt, M. Krawczak, B. Petersen, S. Kußmann, N. Mah, S. Fröhlich, M. Fellous, Helmut Baitsch, M.L. Houck, T. Bonk, D. Bächner, B. Skawran, L.G. Kömüves, J. Andrich, W. Vogel, T.O. Goecke, Y.-F.C. Lau, P.M. Chou, U. Zechner, N.B. Atkin, V. Beensen, D.K. Lamatsch, andK. Benirschke, H.P. Klinger, A. Rosenthal, T. Dörk, A. Gal, R. Melcher, G. Tariverdian, S. Ebner, P.E. Warburton, W. Schloot, P. Miny, C. Kelbova, J. Neesen, C. Reuter, M.S. Magid, K. Lücke, U. Drews, M. Rosemblatt, W. Jaggernauth, S. Knauf, E. Günther, A. Rump, C. Backsch, B. Gharavi, K. Trenz, M. Stumm, M. Wilda, V. Kalscheuer, S. Stengel-Rutkowski, B. Schröder, R. von Golitschek, H. Bostelmann, J. Schmidtke, U. Klein-Vogler, D. Schlote, J.T. Epplen, L. Walter, T. Grimm, S.S. Wachtel, S.C. Kingswood, M.P. Achary, F. Jaubert, H. Przuntek, C. Steinlein, U. Langenbeck, M. Schöning, W. Kress, H. Enders, A. Schinzel, S. Kümmerle, R. Breuer, B. Levy, I. Nanda, C. Nihoul-Feketé, S. Henschel, K. Schiebel, H. Kehrer-Sawatzki, H.G. Nothwang, H. Stöhr, M. Winkelmann, C. Groß, C.R. Mueller, W. Schempp, P. Kaiser, C. Saft, S.G. Somkuti, N.A. Ellis, M. Gencik, F. Vogel, R. Chaves, P. Schütz, P.R. Papenhausen, H. Neitzel, M. Schartl, R. Werdin, A.P. Singh, A. Epplen, G. Senger, J.H. Tepperberg, L. Setterfield, M.M. Sanz, K. Dreikorn, F. Dechend, A.J. Kersten, T. Liehr, M. Schmid, H. Hameister, A. Alfieri, C. Tyler-Smith, A.T. Kumamoto, S.J. Charter, S. Schubert, C. Dixkens, M. Büsse, S. Balg, U. Grumpelt, L. Salas-Cortés, H. Collmann, B. Vikram, K. Fredga, H.M. Schüler, P. Wieacker, A. Humeny, E. Passarge, M.B. Petersen, K. Kainer, G. Herzberger, J. Meder, S. Röttger, H. Hoehn, S. Jakubiczka, T.M. Dunn, B. Halliger-Keller, W. Mosgoeller, R. Bendix, J.S. Heslop-Harrison, S.K. Bohlander, E.P. Evans, E.M. Bühler, I. Hansmann, R. Toder, M. Mikkelsen, K. Kutsche, D. Schindler, P. Burfeind, T. Haaf, J. Frowein, H.G. Schwarzacher, M. Döbler-Neumann, T. Sharma, B. Eiben, P.H. Yen, N.B. Kardon, J. German, M. Proytcheva, H. Winking, G. Speit, G. Scherer, C. Fischer, K. Eggermann, A. Pomarino, A. Hehr, A. Dufke, E. Reichl, W. Engel, S. Avenarius, P.S. Burgoyne, J.A. Alonzo, T. Schwarzacher, A. Gehrig, T.O. Schulz, J.A.M. Graves, E. Gross, U. Müller, J.C. Iezzoni, U. Mittwoch, S. Fallet, and J.J. Pasantes

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
2000
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29. Subject Index Vol. 91, 2000

Author

H. Kehrer-Sawatzki, G. Williams, H. Berninger, O.J. Miller, K. Dreikorn, F. Dechend, M. Kämper, T. Bonk, V. Beensen, N. Mah, S. Balg, S. Jakubiczka, W. Schloot, I. Hansmann, M. Wilda, D. Schindler, K. Lücke, A. Hehr, G. Herzberger, T. Liehr, H.G. Nothwang, A. Bardhan, S. Henschel, A. Dufke, N.A. Ellis, J.S. Heslop-Harrison, S.K. Bohlander, K. Eggermann, M. Gencik, T.M. Dunn, R. Werdin, L. Setterfield, L. Walter, W. Vogel, M.P. Achary, K. Kainer, M. Schmid, S. Kußmann, R. Bendix, C. Nihoul-Feketé, K. Schiebel, W. Engel, S. Avenarius, B. Gharavi, E. Passarge, G. Tariverdian, H.L. Schulz, K. Trenz, D.K. Lamatsch, J. Frowein, P. Schütz, H. Neitzel, M.S. Magid, C. Steinlein, T. Grimm, J. Meder, T. Dörk, M. Fellous, M. Stumm, G. Senger, J.A. Alonzo, M.B. Petersen, H. Enders, M.L. Houck, S. Kümmerle, U. Grumpelt, R. Chaves, W. Mosgoeller, P.E. Warburton, A.T. Kumamoto, B. Schröder, R. Melcher, P.H. Yen, K. Kutsche, J.T. Epplen, C. Kelbova, H.G. Schwarzacher, D. Schlote, M. Döbler-Neumann, P.M. Chou, R. Brauner, F. Jaubert, J. Neesen, M. Proytcheva, B. Eiben, J. German, C. Reuter, J.J. Pasantes, G. Scherer, H. Winking, Y.-F.C. Lau, U. Zechner, V. Kalscheuer, Susumu Ohno, M. Winkelmann, A. Mannan, W. Jaggernauth, E. Reichl, P.S. Burgoyne, E. Glauner, S. Knauf, H. Przuntek, S.G. Somkuti, U. Müller, C. Baldermann, andK. Benirschke, C. Backsch, A. Gehrig, H. Stöhr, H.P. Klinger, M.M. Sanz, S. Fröhlich, M.J. Wakefield, T.O. Goecke, J.C. Iezzoni, C. Dixkens, M. Büsse, C. Althaus, R. Breuer, B. Levy, I. Nanda, A. Epplen, B. Vikram, E. Schnakenberg, P. Miny, R. Toder, L. Salas-Cortés, C. Groß, F. Vogel, P.R. Papenhausen, E.M. Bühler, A. Rump, U. Langenbeck, M. Schöning, W.K. Holloman, M. Schmidt, A. Alfieri, H. Collmann, S.C. Kingswood, K.R. Held, Helmut Baitsch, P. Burfeind, T. Haaf, J.A.M. Graves, E. Gross, S. Ebner, B.H.F. Weber, T. Sharma, K. Sperling, U. Klein-Vogler, J. Seidel, H. Guedes-Pinto, G. Speit, B. Petersen, J. Schmidtke, K. Hirschhorn, A.P. Singh, M. Krawczak, L.G. Kömüves, B. Halliger-Keller, M. Mikkelsen, N.B. Kardon, C. Fischer, W. Krone, J.S. Schinfeld, A. Schinzel, M. Rosemblatt, S.S. Wachtel, W. Kress, A.J. Kersten, C.R. Mueller, C. Saft, W. Schempp, A. Humeny, J.H. Tepperberg, N.B. Atkin, S. Schubert, H.M. Schüler, P. Wieacker, G.A. Rappold, R. von Golitschek, H. Bostelmann, J. Andrich, S. Röttger, P. Kaiser, M. Schartl, H. Hameister, C. Tyler-Smith, S.J. Charter, K. Fredga, E.P. Evans, H. Hoehn, D. Bächner, B. Skawran, U. Mittwoch, A. Rosenthal, A. Gal, S. Fallet, U. Drews, A. Pomarino, E. Günther, T. Schwarzacher, T.O. Schulz, and S. Stengel-Rutkowski

Subjects
Genetics, Index (economics), Subject (documents), Biology, Social science, Molecular Biology, Genetics (clinical)
Published
2000
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30. Functional characteristics of LDL particles derived from various LDL-apheresis techniques regarding LDL-drug-complex preparation

Author

H W, Schultis, H, von Baeyer, H, Neitzel, and E, Riedel

Subjects
Lipoproteins, LDL, Drug Carriers, Kinetics, Mice, Macrophages, Animals, Humans, Biological Transport, Electrophoresis, Polyacrylamide Gel, Lipids
Abstract

Low density lipoproteins (LDL) have the potential to serve as cell specific drug carriers. The LDL may be derived in large quantities from LDL-apheresis procedures. Therefore, LDL particles isolated from the waste of three types of LDL-apheresis were investigated concerning their functional integrity in cell transport tests. LDL particles obtained from dextran sulfate-apheresis (DSA) and heparin extracorporeal lipoprotein precipitation (HELP)-LDL-apheresis are capable of specific internalization into HepG2 cells via the apoB receptor pathway. DSA-LDL-apoB appears to be split into two fragments as judged by SDS gel-polyacrylamide gel electrophoresis without changing transport behavior. Membrane differential filtration (MDF)- and HELP-derived LDL particles showed parallel transport behavior and electrophoretic mobility. Acetylated LDL particles obtained from MDF-LDL-apheresis and from blood donation plasma were transported into P388-macrophages via the scavenger receptor pathway. The results confirm the use of LDL particles from LDL-apheresis as substrates for transformation into drug carriers.

Published
1990

31. P33.15: Prenatal diagnosis of Larsen syndrome by 2D and 3D/4D ultrasound

Author

H. Neitzel, N. Sarioglu, Martin Brauer, Joachim W. Dudenhausen, E. Gottschalk, and S. Heinze

Subjects
medicine.medical_specialty, Radiological and Ultrasound Technology, business.industry, Obstetrics, Obstetrics and Gynecology, Prenatal diagnosis, General Medicine, medicine.disease, Reproductive Medicine, Medicine, Radiology, Nuclear Medicine and imaging, Larsen syndrome, business, 3d 4d ultrasound
Published
2007
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32. The chromosomes of Micromys minutus (Rodentia, Murinae)

Author

R. Johannisson, H. Neitzel, T. Haaf, and Michael Schmid

Subjects
Genetics, Euchromatin, Heterochromatin, Synapsis, Karyotype, Biology, biology.organism_classification, Chiasma, Bivalent (genetics), Cell biology, Meiosis, Evolutionary biology, Constitutive heterochromatin, Micromys minutus, Molecular Biology, Genetics (clinical), X chromosome
Abstract

Both light and electron microscopy were used to study the pairing behavior of the sex chromosomes of the harvest mouse, Micromys minutus, in surface-spread pachytene spermatocytes. The XY pairing pattern is very exceptional in that the site of synaptic initiation is located interstitially in the short arms of the X and the Y, next to their centromeric-regions. From this tiny euchromatic site, synapsis proceeds unidirectionally along the homologous heterochromatic short arms of the X and the Y toward the ends of the chromosomes. After pairing of the short arm is concluded, synapsis begins between the nonhomologous long arms of the X and the Y in the immediate vicinity of the centromeres and progresses unidirectionally toward the end of the long arm of the Y. A synaptic complex develops between the constitutive heterochromatin of the long arm of the Y and the euchromatin of the long arm of the X. Analysis of C-banded and distamycin A/DAPI-stained diakineses revealed a trefoil-like XY bivalent, which was interpreted to be the result of an interstitial chiasma occurring in the paired short arms of the X and the Y. A conspicuous, electron-dense body, about 1 µm in diameter, was found closely associated with the centromeres of the X and the Y in numerous pachytene spermatocytes. A review of the literature showed that comparable XY-associated bodies have been found in only eight other mammals to date.

Published
1984
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33. Contents, Vol. 45, 1987

Author

M. Schmid, E.C. Douglass, M.A. Pierotti, D.J. Shaw, H. Auer, J.G. McLeod, M. Farrall, F.J. Ratty, B. Mayr, W. Schleger, R. Giardini, L.J. Old, J. Sümegi, E. Etcubanas, M.B. Zwi, T. Haaf, R. Ionasescu, B.L. Webber, M.M. Power, B.J. Morris, A.M. Bowcock, R. Williamson, M. Valentine, H.H. Wolff, V. Ionasescu, L.R. Griffiths, Z. Wirschubsky, R.E. Magenis, D. Delia, C. Searby, G. Klein, G. Della Porta, G. Sozzi, M. Camargo, T. Mohandas, B. Wainwright, S.J. Barton, D.H. Wurster-Hill, H.R. Beresford, L.L. Cavalli-Sforza, M.G. Bertoglio, J.M. Hebert, W. Schloot, E.M. Kuhn, E. Wijsman, M. Weinberg, G.B. Peters, T. Jahnsen, S.J. O’Brien, A. Agresti, M.G. Borrello, P.J. Houghton, J.E. Wright, J.D. Brook, S. Bartnitzke, J. Haubrich, R. Chilla, U. Löhrs, G.A. Nicholson, J. Szpirer, K. Davies, Y. Song, J.E. Disney, C.D. Boyd, O.G. Ward, E. Therman, A.M. Christiano, M. Lambrou, H. Kruyer, S. Ingvarsson, W.J. Rettig, W.G. Nash, G. Levan, E. Schwinger, N. Lench, R. Johannisson, F. Rilke, G.E. Sarto, T. Burns, D.A. Ross, J. Bullerdiek, H. Neitzel, D. Parham, L.B. MacCormac, J. Cervenka, A.A. Green, and P. Scambler

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
1987
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34. Analysis of sporadic neuroendocrine tumours of the enteropancreatic system by comparative genomic hybridisation.

Author

H, Tnnies, R, Toliat M, C, Ramel, F, Pape U, H, Neitzel, W, Berger, and B, Wiedenmann

Abstract

BACKGROUND: Chromosomal instability is observed in a wide spectrum of human cancer syndromes. However, to date, little is known of the characteristic genetic changes in sporadic neuroendocrine tumours of the gastroenteropancreatic system. AIMS AND METHOD: We have studied copy number aberrations (CNAs) in 26 sporadic neuroendocrine tumours of the enteropancreatic system (12 foregut and 14 midgut tumours) by comparative genomic hybridisation (CGH), allowing simultaneous evaluation of the entire tumour genome. RESULTS: Nearly all tumours (25/26; that is, 96%) showed chromosomal imbalances, including full chromosomal aneuploidies, losses and gains of chromosome arms, interstitial deletions, and amplifications. Whereas gains of chromosomes 4, 5, and 19 were found in both foregut and midgut tumours, gains of chromosomes 20q (58%), 19 (50%), as well as 17p (50%), and partial losses of chromosomes 1p (42%), 2q (42%), 3p, 4q, and 6q (25% each) were frequently observed only in foregut tumours. In contrast, midgut tumours displayed less CNAs. Gains were detected for chromosomes 17q and 19p (57%). Most frequent losses affected chromosomes 18 (43%) and 9p (21%). CONCLUSIONS: The results of our CGH analyses revealed new distinct candidate regions in the human genome associated with sporadic neuroendocrine tumours. Some of the genetic alterations were shared by foregut and midgut tumours while others discriminated between the two groups. Thus our results allude to the involvement of identical as well as discriminative genetic loci in tumorigenesis and progression of neuroendocrine neoplasms of the foregut and midgut. Based on these findings potential new candidate genes will be discussed.

Published
2001

36. [Clinical experience of Ethrane inhalation anaesthesia compared with halothane inhalation anaesthesia in dogs (author's transl)]

Author

J J, van Nes, H, Neitzel, and H W, de Vries

Subjects
Acid-Base Equilibrium, Methyl Ethers, Blood Pressure, Heart, Carbon Dioxide, Enflurane, Electrocardiography, Dogs, Hematocrit, Heart Rate, Animals, Anesthesia, Anesthesia, Inhalation, Halothane, Pulse
Abstract

Anaesthesia was carried out in fourteen cases as part of the present study, ethrane being used in eight and halothane in six cases. Each group included an experimental dog in which surgery was not performed. The others were patients which had to undergo a surgical procedure. In addition to clinical impressions, the following parameters were recorded: the pulse and heart rates, the electrocardiogram, the systolic pressure and the capnogram. In view of the small number of and marked variation in patients, only cautious conclusions could be drawn. Attention is drawn to the fact that cardiovascular complications may occur when large doses of the anaesthestics are administered. These large doses were constantly required to maintain a sufficiently deep anaesthesia when ethrane was used. The amount of ethrane utilized therefore was definitely larger than was that of halothane. Ethrane had the advantage that recovery from anaesthesia was mor rapid and smoother. Personal experience showed that satisfactory anaesthesia may be produced by either anaesthetic. Secondary considerations may therefore be an important factor in making a choice between the two agents.

Published
1975

37. Abstracts of Selected Posters

Author

R. Albanese, J. L. Antoine, B. Dutrillaux, T. Ashley, L. Avivi, I. Kariv, C. Barigozzi, L. Baratelli, S. Profeta, C. R. Bartram, A. de Klein, A. Hagemeijer, G. Grosveld, D. Bootsma, Michael D. Bennett, J. B. Smith, J. P. Ward, J. S. Heslop-Harrison, N. Blin, M. Kopun, C. H. C. M. Buys, T. Koerts, A. Y. van der Veen, L. de Leij, M. V. Civitelli, E. Capanna, J. Couturier, U. Arnason, N. Mandahl, N. Créau-Goldberg, C. Turleau, C. Cochet, J. de Grouchy, A. J. J. Dietrich, J. D. A. Delhanty, H. A. Mazzullo, H. M. G. Cooke, A. Dotan, M. E. Dresser, M. J. Moses, E. P. Evans, P. B. Burgoyne, M. Ferraro, P. Lavia, C. Fonatsch, H. H. Kirchner, A. Pajunk, M. Schaadt, H. Burrichter, V. Diehl, J. H. Ford, C. G. Roberts, B. Friebe, R. Vogel, M. Friedländer, R. Gamperl, E. Amtmann, H. Pfister, E. Gebhart, H. Wagner, P. Goetz, A. C. Chandley, R. M. Speed, V. J. Goyanes, J. B. Schvartzman, U. Graeven, H. J. Weh, D. K. Hossfeld, I. M. Greenblatt, U. Gripenberg, V. Söderlund, C. Wahlberg, L. Blomqvist, M. R. Guichaoua, D. Delafontaine, J. L. Taillemite, J. M. Luciani, T. Naaf, D. Grunert, M. Schmid, H. Hameister, K. Sperling, A. Hamers, P. Jongbloet, G. Peeters, J. Geraedts, B. Hartley-Asp, W. K. Heneen, L. Hens, M. Kirsch-Volders, C. Susanne, E. W. Herbst, H. Winking, C. P. Claussen, B. Putz, D. Sellin, U. Kolbus, A. Gropp, M. D. Bennett, C. Heyting, F. Koperdraad, E. J. W. Redeker, G. Holmquist, M. Goldman, Halina Jaworska, R. Johannisson, B. Kerem, R. Goitein, C. Richier, M. Marcus, H. Cedar, H. Koch, H. Hoehn, Manfred Kubbies, Peter S. Rabinovitch, W. Kunz, G. Franz, J. R. Lacadena, M. C. Cermeno, J. Orellana, J. L. Santos, F. Lemeunier, C. Derbin, C. C. Lin, D. I. Hoar, J. J. Hoo, H. C. Macgregor, S. Sims, H. A. Horner, P. Pellatt, J. M. Mackay, D. P. Fox, P. W. Brunt, A. W. Johnston, R. E. Magenis, J. Chamberlin, L. Allen, D. Tomar, S. Olson, T. Donlon, P. Marlekaj, A. Balcini, A. Fantoni, A. de Capoa, T. Martinsson, B. Dahllöf, G. Levan, S. Matsukuma, T. Utakoji, J. del Mazo, J. Avila, D. A. Miller, S. I. Feinstein, O. J. Miller, T. Morita, C. Delarbre, G. Gachelin, P. Kourilsky, K. Moritz, K. Moriwaki, N. Miyashita, H. T. Imai, C. H. Wang, F. Bonhomme, M. Murer-Orlando, A. C. Peterson, H. Neitzel, J. Bogenberger, F. Fittler, M. Gaenge, C. Schulze, H. Nietzel, F. Nürnberger, H. Höhn, G. J. B. van Ommen, F. Baas, A. C. Arnberg, P. L. Pearson, J. J. M. De Vijilder, E. Bakker, M. Hofker, M. C. Wapenaar, J. M. Parrington, L. F. West, S. Povey, F. Pasquali, R. Casalone, P. Bernasconi, J. Paul, U. Froster-Iskenius, E. Schwinger, W. Moje, P. O. Pearson, G. C. Beverstock, H. Veenema, J. J. v.d Kamp, E. Petitpierre, J. Philip, C. Lundsteen, M. van der Ploeg, A. C. van Prooijen-Knegt, J. G. J. Bauman, P. van Duijn, M. J. Puertas, A. de la Pena, B. Estades, F. Merino, S. R. V. Rao, K. Vasantha, B. K. Thelma, R. C. Juyal, S. C. Jhanwar, Ch Ratomponirina, A. Hamilton, Y. Rumpler, M. Moses, D. Raveh, A. Ben-Zeoev, C. A. Redi, S. Garagna, C. N. R. Italy, M. Robert-Nicoud, I. Streichhan, E. Möhr, R. Westermann, U. Grossbach, P. Sandberg, A. Levan, Mireille Schäfer, W. Schempp, J. M. J. C. Scheres, T. W. J. Hustinx, R. S. G. Holdrinet, R. R. Tice, T. Schwarzacher, R. A. Finch, J. B. Searle, T. Sharma, S. Sen, N. Cheong, E. Siebert, J. Loidl, R. M. Slater, J. de Kraker, P. A. Voute, J. F. M. Delemarre, D. F. C. M. Smeets, A. P. T. Smits, E. Solleder, B. Inglin, B. Geile, I. Somssich, E. Schwarz, G. Speit, K. Mehnert, W. Vogel, A. Stahl, M. Hartung, M. Devictor, M. Guichaoua, C. Stoll, M.-P. Roth, B. Dott, A. Tabor, M. Madsen, N. Tommerup, W. Traut, F. Chavin-Colin, C. Junien, M. Vekemans, D. Esseltine, W. Venegas, Cl Lasne, I. Chouroulinkov, F. Vidal, J. Navarro, C. Templado, J. Egozcue, E. Viegas-Péquignot, B. Malfoy, E. Taillandier, M. Leng, Y. Viinikka, H. Spielmann, S. Boldin, V. T. Volobouev, G. C. Webb, E. Krumins, R.-D. Wegner, E.-L. Lüdtke, A. Weith, M. Westerman, R. Thomson, A. Sinclair, Y. Z. Yacobi, M. Feldman, and J. S. Yoon

Published
1984
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38. The chromosomes of Micromys minutus (Rodentia, Murinae). II. Pairing pattern of X and Y chromosomes in meiotic prophase

Author

M, Schmid, R, Johannisson, T, Haaf, and H, Neitzel

Subjects
Male, Muridae, Meiosis, Microscopy, Electron, X Chromosome, Spermatocytes, Karyotyping, Y Chromosome, Animals, Prophase, Chromosome Banding
Abstract

Both light and electron microscopy were used to study the pairing behavior of the sex chromosomes of the harvest mouse, Micromys minutus, in surface-spread pachytene spermatocytes. The XY pairing pattern is very exceptional in that the site of synaptic initiation is located interstitially in the short arms of the X and the Y, next to their centromeric regions. From this tiny euchromatic site, synapsis proceeds unidirectionally along the homologous heterochromatic short arms of the X and the Y toward the ends of the chromosomes. After pairing of the short arm is concluded, synapsis begins between the nonhomologous long arms of the X and the Y in the immediate vicinity of the centromeres and progresses unidirectionally toward the end of the long arm of the Y. A synaptic complex develops between the constitutive heterochromatin of the long arm of the Y and the euchromatin of the long arm of the X. Analysis of C-banded and distamycin A/DAPI-stained diakineses revealed a trefoil-like XY bivalent, which was interpreted to be the result of an interstitial chiasma occurring in the paired short arms of the X and the Y. A conspicuous, electron-dense body, about 1 micron in diameter, was found closely associated with the centromeres of the X and the Y in numerous pachytene spermatocytes. A review of the literature showed that comparable XY-associated bodies have been found in only eight other mammals to date.

Published
1987

40. Subject Index Vol. 45, 1987

Author

G. Levan, H. Auer, M. Weinberg, L.J. Old, W. Schloot, J.E. Wright, J. Cervenka, N. Lench, A. Agresti, M.A. Pierotti, A.A. Green, J.G. McLeod, M. Farrall, E. Schwinger, E. Wijsman, B. Mayr, R.E. Magenis, J. Szpirer, P. Scambler, L.R. Griffiths, T. Mohandas, C.D. Boyd, J. Sümegi, J. Haubrich, B. Wainwright, C. Searby, J.E. Disney, O.G. Ward, G. Klein, P.J. Houghton, J.D. Brook, R. Giardini, E. Etcubanas, W.J. Rettig, Z. Wirschubsky, W.G. Nash, A.M. Bowcock, V. Ionasescu, R. Ionasescu, E. Therman, S. Bartnitzke, R. Chilla, A.M. Christiano, S.J. Barton, L.L. Cavalli-Sforza, U. Löhrs, M.G. Bertoglio, D. Delia, J.M. Hebert, M. Schmid, T. Haaf, S.J. O’Brien, G.B. Peters, T. Jahnsen, M. Lambrou, G. Sozzi, D.H. Wurster-Hill, D.J. Shaw, M. Camargo, H.R. Beresford, M. Valentine, H. Kruyer, G. Della Porta, S. Ingvarsson, M.G. Borrello, G.A. Nicholson, K. Davies, Y. Song, R. Williamson, W. Schleger, E.M. Kuhn, M.B. Zwi, B.L. Webber, M.M. Power, B.J. Morris, F. Rilke, D.A. Ross, E.C. Douglass, J. Bullerdiek, R. Johannisson, H.H. Wolff, F.J. Ratty, L.B. MacCormac, D. Parham, G.E. Sarto, T. Burns, and H. Neitzel

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
1987
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41. Population monitoring of trisomy 21: problems and approaches.

Author

Sperling K, Scherb H, and Neitzel H

Abstract

Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epigenetic modifications take place. Thus, maternal meiosis is an error prone process with an extreme sensitivity to endogenous factors, as exemplified by maternal age. This contrasts with the missing acceptance of causal exogenous factors. The proof of an environmental agent is a great challenge, both with respect to ascertainment bias, determination of time and dosage of exposure, as well as registration of the relevant individual health data affecting the birth prevalence. Based on a few exemplary epidemiological studies the feasibility of trisomy 21 monitoring is illustrated. In the nearer future the methodical premises will be clearly improved, both due to the establishment of electronic health registers and to the introduction of non-invasive prenatal tests. Down syndrome is a sentinel phenotype, presumably also with regard to other congenital anomalies. Thus, monitoring of trisomy 21 offers new chances for risk avoidance and preventive measures, but also for basic research concerning identification of relevant genomic variants involved in chromosomal nondisjunction., (© 2023. The Author(s).)

Published
2023
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42. Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Author

Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tönsing V, Nürnberg P, Nürnberg G, Schweiger M, Digweed M, Hildebrand G, Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D, and Sperling K

Subjects
Cell Division, Humans, Mutation, Protein Serine-Threonine Kinases genetics, Cell Cycle Proteins genetics, Cell Cycle Proteins metabolism, Centrioles genetics, Centrioles metabolism
Abstract

The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, altered PLK4 expression is associated with aneuploidy in human embryos. Here, we report on a consanguineous four-generation family with 8 affected individuals compound heterozygous for a novel missense variant, c.881 T > G, and a deletion of the PLK4 gene. The clinical phenotype of the adult patients is mild compared to individuals with previously described PLK4 mutations. One individual was homozygous for the variant c.881G and phenotypically unaffected. The deletion was inherited by 14 of 16 offspring and thus exhibits transmission ratio distortion (TRD). Moreover, based on the already published families with PLK4 mutations, it could be shown that due to the preferential transmission of the mutant alleles, the number of affected offspring is significantly increased. It is assumed that reduced expression of PLK4 decreases the intrinsically high error rate of the first cell divisions after fertilization, increases the number of viable embryos and thus leads to preferential transmission of the deleted/mutated alleles., (© 2022. The Author(s).)

Published
2022
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43. Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Author

Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, Faber R, Digweed M, Voss R, Jäger K, Sperling K, and Walter M

Subjects
Adolescent, Animals, Cell Line, Tumor, Child, Child, Preschool, Disease Models, Animal, Female, Heterozygote, Homozygote, Humans, Infant, Karyotyping, Male, Mice, Mice, Transgenic, Nijmegen Breakage Syndrome genetics, Nijmegen Breakage Syndrome pathology, Progeria pathology, Telomerase metabolism, Young Adult, Cell Cycle Proteins genetics, Nijmegen Breakage Syndrome complications, Nuclear Proteins genetics, Progeria genetics, Telomere pathology, Telomere Homeostasis genetics
Abstract

Background: Nibrin, as part of the NBN/MRE11/RAD50 complex, is mutated in Nijmegen breakage syndrome (NBS), which leads to impaired DNA damage response and lymphoid malignancy., Results: Telomere length (TL) was markedly reduced in homozygous patients (and comparably so in all chromosomes) by ~40% (qPCR) and was slightly reduced in NBS heterozygotes older than 30 years (~25% in qPCR), in accordance with the respective cancer rates. Humanized cancer-free NBS mice had normal TL. Telomere elongation was inducible by telomerase and/or alternative telomere lengthening but was associated with abnormal expression of telomeric genes involved in aging and/or cell growth. Lymphoblastoid cells from NBS patients with long survival times (>12 years) displayed the shortest telomeres and low caspase 7 activity., Conclusions: NBS is a secondary telomeropathy. The two-edged sword of telomere attrition enhances the cancer-prone situation in NBS but can also lead to a relatively stable cellular phenotype in tumor survivors. Results suggest a modular model for progeroid syndromes with abnormal expression of telomeric genes as a molecular basis., Methods: We studied TL and function in 38 homozygous individuals, 27 heterozygotes, one homozygous fetus, six NBS lymphoblastoid cell lines, and humanized NBS mice, all with the same founder NBN mutation: c.657_661del5.

Published
2020
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44. Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Author

Habib R, Neitzel H, Ernst A, Wong JKL, Goryluk-Kozakiewicz B, Gerlach A, Demuth I, Sperling K, and Chrzanowska K

Abstract

Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence., Case Presentation: Here we present an incidental finding. Skin fibroblasts, derived from a 9 year old NBS patient, showed a mosaic of normal diploid cells (46,XY) and those with a complex, unbalanced translocation. The aberrant karyotype was analysed by G-banding, comparative genomic hybridization, and whole chromosome painting. The exact breakpoints of the derivative chromosome were mapped by whole genome sequencing: 45,XY,der(6)(6pter → 6q11.1::13q11 → 13q21.33::20q11.22 → 20qter),-13. The deleted region of chromosomes 6 harbors almost 1.400 and that of chromosome 13 more than 500 genes, the duplicated region of chromosome 20 contains about 700 genes. Such unbalanced translocations are regularly incompatible with cellular survival, except in malignant cells. The aberrant cells, however, showed a high proliferation potential and could even be clonally expanded. Telomere length was significantly reduced, hTERT was not expressed. The cells underwent about 50 population doublings until they entered into senescence. The chromosomal preparation performed shortly before senescence showed telomere fusions, premature centromere divisions, endoreduplications and tetraploid cells, isochromatid breaks and a variety of marker chromosomes. Inspection of the site of skin biopsy 18 years later, presented no evidence for abnormal growth., Conclusions: The aberrant cells had a significant selective advantage in vitro. It is therefore tempting to speculate that this highly unbalanced translocation could be a primary driver of cancer cell growth., Competing Interests: The cell line was established with the ethical approval of The Children’s Memorial Health Institute, Warsaw and the consent of the proband’s parents.All authors declared their consent for publication.The authors declare that they have no competing interestsSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Published
2018
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45. [Survival, Medical Care and Quality of Life in Children with Trisomy 13 and 18].

Author

Kusztrich A, Hüseman D, Garten L, Neitzel H, and Bührer C

Subjects
Cause of Death, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, Germany, Humans, Infant, Infant, Newborn, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Chromosome Disorders, Life Expectancy, Mothers education, Mothers psychology, Professional-Family Relations, Quality of Life psychology, Trisomy
Abstract

Background: While infants with trisomy 13 (T13) and trisomy 18 (T18) are known to die early, parents want to know more about life expectancy and quality of life., Methods: 30-year single-center retrospective chart analysis (1980-2010) of cytogenetically confirmed T13 and T18 cases. Mothers of infants who had lived 3 months or longer were approached to judge their infant's quality of life and talk about their experiences with medical staff., Results: Data of 18/20 T13 infants and 18/21 T18 infants could be retrieved. Median survival times were 5 d for T13 and 19 d for T18. One T13 and 2T18 children survived past 1 year. Out of 5 mothers whose infants had survived at least 3 months, 4 described their infant as friendly, happy and peaceful. They observed some degree of psychomotor development and were in favour of the numerous medical and surgical interventions performed. They wished to have had a doctor coordinating these interventions and missed an active offer for psychological help., Conclusion: While most infants with T13 or T18 die as neonates, mothers of infants surviving longer periods of time have positive memories about their infants' quality of life., (© Georg Thieme Verlag KG Stuttgart · New York.)

Published
2016
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46. Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany.

Author

Paustian L, Chao MM, Hanenberg H, Schindler D, Neitzel H, Kratz CP, and Ebell W

Subjects
Adenoma blood, Adenoma mortality, Adolescent, Adult, Child, Child, Preschool, Fanconi Anemia blood, Fanconi Anemia drug therapy, Fanconi Anemia mortality, Female, Germany epidemiology, Hemoglobins metabolism, Humans, Leukocyte Count, Liver Neoplasms blood, Liver Neoplasms mortality, Male, Neoplasms, Second Primary blood, Neoplasms, Second Primary mortality, Retrospective Studies, Androgens adverse effects, Androgens therapeutic use
Abstract

A substantial number of individuals with Fanconi anemia (FA) develop bone marrow failure and are treated with androgen therapy in order to increase blood counts. The authors retrospectively identified 70 patients who received androgen therapy any time between July 1976 and September 2014. Among these patients, 37 had medical records for analysis. Twenty-five of the 37 (68%) patients had response in hemoglobin level (n = 25), platelet count (n = 21), and/or absolute neutrophil count (n = 13). The median rise in hemoglobin was 6.5 mg/dL, platelet count 70,000/mm(3), and absolute neutrophil count (ANC) 1530/μL. The majority of patients (n = 22) had a response in 2 or more blood parameters. Reasons for discontinuation of therapy included development of cytogenetic aberrations (n = 9), lack of response (n = 7), hepatic adenoma (n = 6), progression to myelodysplastic syndrome/acute myeloid leukemia (n = 3), stabilization of blood parameters (n = 3), resolution of cytopenia secondary to mosaicism (n = 1), virilization (n = 1), development of anogenital carcinoma (n = 1), inaccessibility of medication (n = 1), and unknown (n = 1). Four patients at last follow-up remain on androgen therapy. These results highlight that androgen therapy can significantly improve blood counts for many FA patients, but progression of underlying bone marrow disease and development of liver adenomas requires careful monitoring.

Published
2016
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47. Chromosome structure deficiencies in MCPH1 syndrome.

Author

Arroyo M, Trimborn M, Sánchez A, Hirano T, Neitzel H, and Marchal JA

Subjects
Cell Cycle Proteins, Chromatin Assembly and Disassembly genetics, Chromosome Structures genetics, Cytoskeletal Proteins, Humans, Microcephaly metabolism, Mitosis, Chromosome Structures metabolism, Microcephaly genetics, Mutation, Nerve Tissue Proteins genetics
Abstract

Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation. MCPH1 patient cells display premature chromosome condensation in G2 phase of the cell cycle and delayed decondensation in early G1 phase, observable as an increased proportion of cells with prophase-like appearance. MCPH1 deficiency thus appears to uncouple the chromosome cycle from the coordinated series of events that take place during mitosis such as some phases of the centrosome cycle and nuclear envelope breakdown. Here, we provide a further characterization of the effects of MCPH1 loss-of-function on chromosome morphology. In comparison to healthy controls, chromosomes of MCPH1 patients are shorter and display a pronounced coiling of their central chromatid axes. In addition, a substantial fraction of metaphase chromosomes shows apparently unresolved chromatids with twisted appearance. The patient chromosomes also showed signs of defective centromeric cohesion, which become more apparent and pronounced after harsh hypotonic conditions. Taking together, the observed alterations indicate additional so far unknown functions of MCPH1 during chromosome shaping and dynamics.

Published
2015
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48. Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only.

Author

Chao MM, Kuehl JS, Strauss G, Hanenberg H, Schindler D, Neitzel H, Niemeyer C, Baumann I, von Bernuth H, Rascon J, Nagy M, Zimmermann M, Kratz CP, and Ebell W

Subjects
Adolescent, Child, Child, Preschool, Female, Graft vs Host Disease diagnosis, Graft vs Host Disease prevention & control, Hematopoietic Stem Cell Transplantation trends, Humans, Male, Treatment Outcome, Young Adult, Antineoplastic Agents administration & dosage, Fanconi Anemia diagnosis, Fanconi Anemia therapy, Hematopoietic Stem Cell Transplantation methods, Transplantation Conditioning methods, Unrelated Donors
Abstract

Fanconi anemia (FA) is a genomic instability syndrome associated with bone marrow failure, myelodysplastic syndrome (MDS), and/or acute myeloid leukemia (AML) requiring hematopoietic stem cell transplantation (HSCT) to restore normal hematopoiesis. Although low-intensity fludarabine-based preparative regimens without radiation confer excellent outcomes in FA HSCTs with HLA-matched sibling donors, outcomes for FA patients with alternative donors are less encouraging, albeit improving. We present our experience with 17 FA patients who completed mismatched related or unrelated donor HSCT using a non-radiation fludarabine-based preparative regimen at Charité University Medicine Berlin. All patients engrafted; however, one patient had unstable chimerism in the setting of multi-viral infections that necessitated a stem cell boost to revert to full donor chimerism. Forty-seven percent of patients developed grade I acute graft-verus-host disease (aGVHD). No grade II-IV aGVHD or chronic graft-versus-host disease of any severity occurred. At a median follow-up of 30 months, 88 % of patients are alive with normal hematopoiesis. Two patients died of infections 4 months post-transplantation. These results demonstrate that short-term outcomes for FA patients with mismatched and unrelated donor HSCTs can be excellent using chemotherapy only conditioning. Viral reactivation, however, was a major treatment-related complication.

Published
2015
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49. 5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac.

Author

Schmid M, Steinlein C, Lomb C, Sperling K, and Neitzel H

Subjects
Animals, Cell Line, Male, 5-Methylcytosine analysis, Heterochromatin chemistry, Muntjacs genetics
Abstract

Two 5-methylcytosine (5-MeC)-rich heterochromatic regions were demonstrated in metaphase chromosomes of the Indian muntjac by indirect immunofluorescence using a monoclonal anti-5-MeC antibody. The metaphases were obtained from diploid and triploid cell lines. A major region is located in the 'neck' of the 3;X fusion chromosome and can be detected after denaturation of the chromosomal DNA with UV-light irradiation for 1 h. It is located exactly at the border of the X chromosome and the translocated autosome 3. A minor region is found in the centromeric region of the free autosome 3 after denaturing the chromosomal DNA for 3 h or longer. The structure and possible function of the major hypermethylated region as barrier against spreading of the X-inactivation process into the autosome 3 is discussed., (© 2016 S. Karger AG, Basel.)

Published
2015
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50. Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population.

Author

Becker R, Keller T, Wegner RD, Neitzel H, Stumm M, Knoll U, Stärk M, Fangerau H, and Bittles A

Subjects
Adolescent, Adult, Europe epidemiology, Female, Germany epidemiology, Humans, Infant, Newborn, Male, Middle Aged, Pregnancy, Prevalence, Urban Population statistics & numerical data, Young Adult, Consanguinity, Ethnicity statistics & numerical data, Pregnancy Outcome epidemiology
Abstract

Objective: The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal situation., Methods: Over 20 years (1993-2012), 35,391 fetuses were examined by prenatal sonography. In 675 cases (1.9%), parents were consanguineous, with 307 couples (45.5%) related as first cousins, 368 couples (54.5%) beyond first cousins. Detailed information was retrieved on 31,710 (89.6%) fetuses, (consanguineous 568: 1.8%)., Results: Overall prevalence of major anomalies among fetuses with non-consanguineous parents was 2.9% (consanguineous, 10.9%; first cousins, 12.4%; beyond first cousins, 6.5%). Adjusting the overall numbers for cases having been referred because of a previous index case, the prevalences were 2.8% (non-consanguineous) and 6.1% (consanguineous) (first cousin, 8.5%; beyond first cousin, 3.9%). Further adjustment for differential rates of trisomic pregnancies indicated 2.0%/5.9% congenital anomalies (non-consanguineous/consanguineous groups), that is, a consanguinity-associated excess of 3.9%, 6.1% in first cousin progeny and 1.9% beyond first cousin., Conclusions: The prevalence of major fetal anomalies associated with consanguinity is higher than in evaluations based only on postnatal life. It is important that this information is made available in genetic counselling programmes, especially in multi-ethnic and multi-religious communities, to enable couples to make informed decisions., (© 2014 John Wiley & Sons, Ltd.)

Published
2015
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