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Biomedical subjects

J Mueller

Publications and source records attributed to J Mueller.

At least 109 records · Page 6Linked to original sources
PubMed1995

Microsatellite instability in adenocarcinomas of the upper gastrointestinal tract. Relation to clinicopathological data and family history.

We analyzed 66 adenocarcinomas arising in the upper gastrointestinal tract for microsatellite instability at eight microsatellite loci to investigate the role of these genetic alterations in the etiology of these tumors. We identified alterations in at least one locus in 11/46 adenocarcinomas of the stomach, in 2/15 adenocarcinomas arising in Barrett's esophagus, and in 1/5 adenocarcinomas of the duodenum and jejunum. Microsatellite instability in gastric tumors was found in 5/22 of intestinal, 1/3 of mixed, and 5/21 of diffuse type tumors. No relationship to the tumor stage (TNM), age, and survival time of the patients was observed. One patient had two synchronous gastric tumors both exhibiting microsatellite instability at multiple loci. His family history revealed four individuals in the maternal line afflicted with gastric carcinoma in three generations. Our data show that microsatellite instability is a genetic event in 11 to 24% of tumors of the upper gastrointestinal tract. The observation of microsatellite instability and a familial clustering of gastric tumors may suggest a genetic predisposition for a subset of gastric tumors, which may be identified by microsatellite analysis.

Adenocarcinoma↗
PubMed1994

In situ hybridization in pathology.

The technique of in situ hybridization (ISH) is presented with special reference to its use in the practice of pathology. Methodological and theoretical aspects of ISH are first considered with regard to tissue fixation, probe selection and preparation, various types of labeling reactions and aspects of hybridization conditions as they relate to hybridization protocols. This is followed by a discussion about the interpretation of the results of ISH with regard to sensitivity and specificity and the importance of, and various types of, controls. Lastly, specific applications of ISH in pathology are discussed, concluding with possible future applications for ISH in research and diagnosis.

Animals↗
PubMed1993

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplicated segment appears to cause the disease. The PMP22 gene, which encodes a myelin protein, has been mapped within the duplication and proposed as a candidate gene for CMT type 1A. METHODS: We analyzed DNA samples from a cohort of 32 unrelated patients with CMT type 1 who did not have the 1.5-Mb tandem duplication in 17p11.2-p12 for mutations within the PMP22 coding region. Molecular techniques included the polymerase chain reaction (PCR), heteroduplex analysis to detect point mutations, and direct nucleotide-sequence determination of amplified PCR products. RESULTS: A 10-year-old boy was identified with a point mutation in PMP22, which resulted in the substitution of cysteine for serine in a putative transmembrane domain of PMP22. Analysis of family members revealed that the PMP22 point mutation arose spontaneously and segregated with the CMT type 1 phenotype in an autosomal dominant pattern. The patients with the PMP22 point mutation had clinical and electrophysiologic phenotypes that were similar to those of patients with the 1.5-Mb duplication. CONCLUSIONS: The PMP22 gene has a causative role in CMT type 1. Either a point mutation in PMP22 or a duplication of the region including the PMP22 gene can result in the disease phenotype.

Amino Acid Sequence↗
PubMed1992

High-specificity in-situ hybridization. Methods and application.

We describe a technique of in-situ hybridization using oligonucleotide probes employing the expression of immunoglobulin VH genes as a model. Optimal conditions for hybridization with the 35S-labeled oligonucleotide probes were established with monoclonal B-cell lines that express VH genes of known nucleic acid sequence. The range of sensitivity and specificity achieved with this technique is documented. Under conditions of high stringency, this method can detect the expression of highly related VH hypervariable regions.

B-Lymphocytes↗
PubMed1992

Lesbian erotics: the utopian trope of Donne's "Sapho to Philaenis".

Famous for its self-assertive masculinity, John Donne's love poetry nonetheless includes a verse elegy which stands alone not only in his work but also in the entire literary production of the Renaissance for its celebration and defense of a passionate lesbian relation binding the two women of its title. No editorial grounds exist for denying Donne's authorship of "Sapho to Philaenis"; rather the interpretive task is to reconstitute the poem's significance in period terms. The task is complicated by Donne's penchant for flouting literary and social convention as he successively overturns Ovid's influential portrayal of Sappho as an aging voluptuary reclaimed for heterosexuality, the virulent homophobia of Renaissance humanists, and the coy idealizations and transient evocation given to lesbian affectivity by the very few Renaissance writers (including Shakespeare) who touched on the subject at all. When "Sapho to Philaenis" is set in the context of Donne's other love elegies in verse as productions by a young intellectual moving in sophisticated London circles and writing for a coterie audience, lesbianism looks like a master trope for positively resolving a dilemma that confounded Montaigne and many other authors of the age. Could the perfections of love and friendship be united in a relation of equality between two persons? Gender hierarchy and separate socialization precluded a heterosexual construction of any such equality in the Renaissance, and the greater opprobrium cast on male homosexuality in this era must have influenced Donne's decision to figure his equal lovers and friends as a lesbian couple. Yet the disclosive power of "Sapho to Philaenis" goes far beyond the entailments of a specific choice of poetic representation. Donne really undertakes to imagine the pleasures, sustenance, and ideological implications by which lesbianism, as a mode of loving and being, resists patriarchal disposition and diminution of women. Donne anticipates the advances of twentieth-century feminists (Colette, Kofman, Irigaray) as he poetically articulates possibilities and knowledge that were otherwise denied expression by Renaissance culture and its exponents.

England↗
PubMed1991

Protection by U-50,488H against beta-chlornaltrexamine antagonism of nitrous oxide antinociception in mice.

Nitrous oxide antinociception in the abdominal constriction test was significantly reduced in mice pretreated intracerebroventricularly (i.c.v.) with beta-chlornaltrexamine (beta-CNA). However, this antagonism was reversed when the beta-CNA was co-administered i.c.v. with the kappa-opioid ligand U-50,488H but not the mu-opioid ligand CTOP. These findings further demonstrate that nitrous oxide antinociception in the mouse abdominal constriction paradigm is mediated by kappa- but not mu-opioid receptors.

3,4-Dichloro-N-methyl-N-(2-(1-pyrrolidinyl)-cycloh↗
PubMed1991

Vibrio vulnificus. Hazard on the half shell.

Vibrio vulnificus is an extremely invasive gram-negative bacillus that causes bacteremia and shock. It should be suspected in any patient who is immunocompromised or has liver disease or hemochromatosis. Reduced gastric acidity may also increase the risk of infection if a patient presents with a history of ingesting raw shellfish (especially oysters) or trauma in brackish waters and skin lesions. Patients most commonly present with one of three clinical syndromes: primary septicemia, wound infection, or gastroenteritis. Treatment includes aggressive wound debridement, antibiotic therapy, and supportive care. Rapidly diagnosing and promptly initiating therapy are critical because V vulnificus infection is rapidly progressive and mortality approaches 100% if septic shock occurs.

Animals↗