Müller, Annika

[["dc.bibliographiccitation.firstpage","191"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY"],["dc.bibliographiccitation.lastpage","195"],["dc.bibliographiccitation.volume","439"],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Beyser, K."],["dc.contributor.author","Arps, H."],["dc.contributor.author","Bolander, S."],["dc.contributor.author","Becker, H."],["dc.contributor.author","Ruschhoff, J."],["dc.date.accessioned","2018-11-07T08:51:00Z"],["dc.date.available","2018-11-07T08:51:00Z"],["dc.date.issued","2001"],["dc.description.abstract","Germline mutations within mismatch repair genes, such as hMSH2, hMLH1, and hMSH6, have been shown to be the hallmark of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. The spectrum of tumors associated with mismatch repair gene defects and the possible relationship between genotype and phenotype are still unclear. Therefore, the spectrum of tumors and the possible genotype-phenotype relationship are still under discussion. Here, we report on a family with a new germline mutation in the hMSH2 gene with a 2-bp deletion at codons 232 and 233 leading to a frame shift and a stop at codon 254. Accordingly, immunohistochemistry revealed loss of hMSH2 expression in colorectal carcinomas of three affected family members. In this one family, there was a high penetrance. Interestingly, mutational screening of the family revealed a high penetrance of the mutation affecting four of five tested people at risk, with a high mortality rate and a trend toward lower age of onset in subsequent generations. Finally, a metachronous breast cancer in one patient turned out to be a tumor unrelated to microsatellite instability phenocopy, i.e., a sporadic tumor unrelated to HNPCC that expressed the hMSH2 gene and did not show any microsatellite instability."],["dc.identifier.isi","000170606400011"],["dc.identifier.pmid","11561760"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21827"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0945-6317"],["dc.title","Genotype and phenotype of a new 2-bp deletion of hMSH2 at codon 233"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1014"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Cancer Research"],["dc.bibliographiccitation.lastpage","1019"],["dc.bibliographiccitation.volume","62"],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Edmonston, T. B."],["dc.contributor.author","Corao, D. A."],["dc.contributor.author","Rose, D. G."],["dc.contributor.author","Palazzo, J. P."],["dc.contributor.author","Becker, H."],["dc.contributor.author","Fry, R. D."],["dc.contributor.author","Rueschoff, Josef"],["dc.contributor.author","Fishel, R."],["dc.date.accessioned","2018-11-07T10:31:52Z"],["dc.date.available","2018-11-07T10:31:52Z"],["dc.date.issued","2002"],["dc.description.abstract","Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant genetic predisposition syndrome that accounts for 2-7% of all colorectal cancers. Diagnosis of HNPCC is based on family history (defined by Amsterdam or Bethesda Criteria), which often includes a history of multiple synchronous or metachronous cancers. The majority of HNPCC results from germ-line mutations in the DNA mismatch repair (MMR) genes hMSH2 and hMLH1 with rare alterations in hMSH6 and hPMS2 in atypical families. Both HNPCC and sporadic MMR-deficient tumors invariably display high microsatellite instability (MSI-H). Two types of HNPCC families can be distinguished: type I (Lynch I) with tumors exclusively located in the colon; and type II (Lynch II) with tumors found in the endometrium, stomach, ovary, and upper urinary tract in addition to the colon. A proposed association of breast cancer with type II HNPCC is controversial. To address this important clinical question, we examined NISI in a series of 27 female patients who presented with synchronous or metachronous breast plus colorectal cancer. Although NISI-H was found in 5 of 27 (18.5%) of the colon cancers, in all cases the matched breast cancer was microsatellite stable. We also examined the breast tumors from three women who were carriers of MMR gene mutations from HNPCC families. None of these three breast tumors displayed NISI nor was the expression of MMR proteins altered in these tumors. We conclude that breast cancer largely arises sporadically in HNPCC patients and is rarely associated with the HNPCC syndrome."],["dc.description.sponsorship","NCI NIH HHS [CA72027]"],["dc.identifier.isi","000173969400014"],["dc.identifier.pmid","11861375"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/44211"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Assoc Cancer Research"],["dc.relation.issn","0008-5472"],["dc.title","Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1854"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Critical Care Medicine"],["dc.bibliographiccitation.lastpage","1858"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","Samel, S. T."],["dc.contributor.author","Neufang, T."],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Leister, Ingo"],["dc.contributor.author","Becker, H."],["dc.contributor.author","Post, Stephen G."],["dc.date.accessioned","2018-11-07T10:12:32Z"],["dc.date.available","2018-11-07T10:12:32Z"],["dc.date.issued","2002"],["dc.description.abstract","Objective: In experimental studies of capillary blood flow that use intravital video microscopy, organs are exposed in observation chambers implanted into the animal. In this article we describe an abdominal cavity chamber for intravital video microscopy of gut mucosa microcirculation during increased intra-abdominal pressure. Design: Prospective, experimental animal study. Setting: Research laboratory at a university hospital. Subjects: Male Wistar rats. Interventions: The abdominal cavity chamber was designed for implantation into the abdominal wall of rats after laparotomy, thus creating an expanded hermetic, abdominal cavity volume. Animals were assigned to three levels of intra-abdominal pressure: controls (group 1), 10 mm Hg (group 2), and 15 mm Hg (group 3). Intra-abdominal pressure was increased by intra-abdominal insufflation of gas. By using a fluorescent marker, we quantitatively assessed mucosa perfusion index, functional capillary density, red blood cell velocity, capillary diameters, and flow motion during increased intra-abdominal pressure by intravital video microscopy. Results were expressed as mean SEM. Significance of differences was determined by analysis of variance and multiple comparison of means with post hoc test ( p < .05 groups vs. control; daggerp < .05 group 3 vs. group 2). Measurements and Main Results: When compared with controls, animals subjected to an intra-abdominal pressure of 10 and 15 mm Hg showed a significant stepwise decrease in mucosa perfusion index (88%, 71% , 22% dagger), functional capillary density (665.4 +/- 71.7, 461.6 +/- 71.9 , 375.1 +/- 2.0 dagger cm(-1)), and red blood cell velocity (0.50 +/- 0.04, 0.33 +/- 0.03 , 0.04 +/- 0.06 dagger mm/sec), indicating a stepwise impairment of mucosal microcirculation. Capillary diameters and flow motion did not change with respect to intra-abdominal pressure. Conclusions: This novel animal model of intravital intestinal video microscopy that uses an abdominal cavity chamber is a feasible and sensitive experimental tool to study intestinal microcirculation during increased intra-abdominal pressure. Intra-abdominal pressure likely results in a severe impairment of mucosal microcirculation."],["dc.identifier.doi","10.1097/00003246-200208000-00030"],["dc.identifier.isi","000177459800030"],["dc.identifier.pmid","12163805"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40255"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0090-3493"],["dc.title","A new abdominal cavity chamber to study the impact of increased intra-abdominal pressure on micro circulation of gut mucosa by using video microscopy in rats"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","73"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Zeitschrift für Gastroenterologie"],["dc.bibliographiccitation.lastpage","75"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Wilhelm, A."],["dc.contributor.author","Langer, C."],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Becker, H."],["dc.date.accessioned","2018-11-07T09:40:51Z"],["dc.date.available","2018-11-07T09:40:51Z"],["dc.date.issued","2001"],["dc.description.abstract","Meckel's diverticulitis is a rare disease. In addition to physical examination, abdominal ultrasound can help to pinpoint the diagnosis. By presenting a case report we would like to demonstrate the typical ultrasonographic findings in acute Meckel's diverticulitis and differentiate it from acute appendicitis. A 60-year-old patient was admitted to our hospital with the diagnosis of acute appendicitis. Abdominal ultrasound was performed and a blind ending, liquid-filled segment of small bowel in the right lower quadrant of the abdomen found. This segment was not compressible, no peristalsis was evident, nor was there any anatomical association with the cecum. Locally we found free fluid and hints of inflamed mesenteric fatty tissue. A perforated Meckel's diverticulum was diagnosed and confirmed intraoperatively. The major ultrasonographic difference between an inflamed Meckel's diverticulum and acute appendicitis is its anatomical location. In contrast to the appendix there is no association with the cecum. A diameter of up to 40 mm and a well-defined wall of small bowel with 3 definite layers visible by ultrasound may help to distinguish between a Meckel's diverticulum and the appendix."],["dc.identifier.doi","10.1055/s-2001-10689"],["dc.identifier.isi","000166811700006"],["dc.identifier.pmid","11215372"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/33592"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Demeter Verlag Georg Thieme Verlag"],["dc.relation.issn","0044-2771"],["dc.title","Diagnosis of an inflamed Meckel's diverticulum by ultrasonography in an adult"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","195"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","199"],["dc.bibliographiccitation.volume","140A"],["dc.contributor.author","Mueller, A."],["dc.contributor.author","Schackert, Hans K."],["dc.contributor.author","Lange, B."],["dc.contributor.author","Ruschoff, J."],["dc.contributor.author","Fuzesi, Laszlo"],["dc.contributor.author","Willert, J."],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Shah, Pranali"],["dc.contributor.author","Becker, H."],["dc.contributor.author","Epplen, J. T."],["dc.contributor.author","Stemmler, S."],["dc.date.accessioned","2018-11-07T10:19:50Z"],["dc.date.available","2018-11-07T10:19:50Z"],["dc.date.issued","2006"],["dc.description.abstract","Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by heterozygous germline mutations in DNA mismatch repair genes (MMR), (MSH2, MLH1, MSH6. and PMS2) and it is inherited in an autosomal dominant pattern with high penetrance. Several patients have been reported carrying bi-allelic MMR gene mutations and whose phenotype resembled a syndrome with childhood malignancies including hematological malignancies, brain, and colorectal tumors. This phenotype is similar to the tumor spectrum of MMR knockout mice. Herein we describe two brothers of healthy consanguineous parents from Pakistan, who had developed two and three colorectal cancers at the ages of 11 and 12 years, respectively, and less than 30 polyps. Tumor specimens were microsatellite instable (MSI-H), and expression of MSH2 and MSH6 was lost. Mutation analyses of DNA samples from both patients revealed a novel homozygous c.2006-5T > A mutation in intron 12 of the MSH2 gene. This phenotype of the brothers is unusual as they neither develop hematological malignancies nor brain tumors at an older age of presentation than other patients with homozygous MSH2 mutations. The milder phenotype may be due to the expression of low amounts of MSH2 protein with reduced activity. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.31070"],["dc.identifier.isi","000235264400001"],["dc.identifier.pmid","16372347"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41747"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]