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N Martin

Publications and source records attributed to N Martin.

At least 163 records · Page 9Linked to original sources
PubMed1995

Expression of the bcl-2 protein in B cell lymphomas arising from mucosa associated lymphoid tissue.

AIM: To determine whether lymphomas arising from mucosa associated lymphoid tissue (MALT) express the bcl-2 protein. METHODS: Forty two cases of MALT B cell lymphomas, 20 low grade neoplasms and 22 high grade tumours, were studied. Immunohistological staining was performed on paraffin wax embedded tissue using a monoclonal antibody specific for the bcl-2 protein. RESULTS: All of the low grade lymphomas gave positive results on staining, with clear cytoplasmic labelling for bcl-2 protein in the small neoplastic cells, some of which formed characteristic lympho-epithelial lesions. A striking feature was that larger bcl-2 negative cells were observed in nine of these tumours. They were either scattered singly among the small neoplastic cells or formed small clusters, suggesting that they could represent early areas of transformation to high grade neoplasia. Germinal centres in the vicinity of the tumours lacked bcl-2 protein and hence contrasted clearly with the neoplastic cells. In some cases this permitted germinal centres, which were not obvious on conventional histological staining, to be recognised. In 20 of the 22 cases of high grade B cell lymphoma the large neoplastic cells were bcl-2 negative; the remaining two cases, however, contained a proportion of large neoplastic bcl-2 positive cells. In four of the 22 cases of high grade tumours a low grade component was found which expressed bcl-2 in all cases. CONCLUSION: Bcl-2 protein is expressed in low grade, but not in most high grade, MALT lymphomas. In view of recent data indicating that most high grade nodal lymphomas express bcl-2, these findings suggest that MALT lymphomas may regulate bcl-2 gene expression differently to nodal lymphomas.

Antibodies, Monoclonal↗
PubMed1995

[Hypercalcemia in cancer patients. Who, when and how to treat?].

The most frequent, potentially fatal, metabolic complication in cancer patients is hypercalcemia. After a discussion of cancer-associated hypercalcemia, we propose an individualized intervention model based on an analysis of the clinical situation, the prognosis, and available treatment options.

Humans↗
PubMed1995

Discordant expression of immunoglobulin and its associated molecule mb-1/CD79a is frequently found in mediastinal large B cell lymphomas.

Mediastinal large B cell lymphomas are uncommon neoplasms that are thought to originate from thymic B cells. An unusual feature of these neoplasms is that they often lack surface immunoglobulin (Ig), a molecule ubiquitously expressed by most mature B cells. In the present study we have analyzed 12 cases of mediastinal large B cell lymphoma for the expression of the mb-1/CD79a polypeptide. This is a component, together with B29/CD79b, of a heterodimer that is associated with surface Ig on normal B cells. Our aim was to see whether loss of Ig in this type of lymphoma is associated with loss of the accompanying CD79a molecule. We have also evaluated 128 B cell lymphomas of other categories to see whether any of them show discordance between mb-1 and Ig expression and analyzed 30 T cell lymphomas as Ig-negative controls. We found that 5 of the 7 mediastinal large B cell lymphomas with interpretable staining results for both mb-1 and Ig, lack Ig but expressed CD79a (mb-1). This phenotype was very rare in other categories of B cell lymphoma, being found among 110 cases in only 5 cases that were all follicular lymphoma. The remaining 105 B cell lymphomas displayed mb-1+/Ig+ phenotype. All 30 T cell lymphomas were mb-1 negative. We conclude that discordant mb-1/Ig expression occurs commonly in mediastinal large B cell lymphomas. In addition, the finding that 11 of 12 of these neoplasms express a phenotype (CD10-, CD19+, CD20+, CD21-, CD22+, CD23-/+) that is very similar to that described for thymic medullary B cells reinforces the idea that most mediastinal large B cell lymphomas are of thymic B cell origin. The correlation between mb-1 and Ig staining patterns in B cell lymphomas of other categories reveals that in the majority (90%), expression of the antigen receptor complex parallels that of mature B cells. These data therefore confirm that the expression of the mb-1 protein provides independent strong evidence for the B lineage of lymphomas and may be used for their routine phenotypic characterization.

Antigens, CD↗
PubMed1994

The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart.

The identity of a gene coamplified with the adenylate deaminase 2 gene (AMPD2) in coformycin-resistant cells was determined by analysis of its genomic sequence. Sequence comparisons reveal a significant homology with the 3' terminal part of the gene encoding the alpha i3 subunit of Gi proteins from several species (GNAI3). Identification of the gene was confirmed by Western blot analysis of its products. A precise sequence comparison was performed with the human genomic sequence. It showed that conservation remains important in noncoding exons as well as in introns. However, sequences corresponding to combined U6 snRNA and E protein pseudogene, previously identified inside intron 7 of the human gene, were not found in the Chinese hamster gene. GNAI3 is mapped to a region of conserved linkage between human chromosome 1 (locus 1p13) and mouse chromosome 3 (at 48.4 cM). The Chinese hamster GNAI3 gene maps to chromosome 1 within a 120-kb fragment that also comprises the AMPD2 and GSTM genes.

AMP Deaminase↗
PubMed1994

Local anaesthetics.

Explore the source record for details and available documents.

Anesthesia, Dental↗
PubMed1994

Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.

One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recent English survey by Evans et al. [J Med Genet 30:460-464, 1993]. The frequencies of most manifestations are similar. However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented simplex cases, and, accordingly, the apparent new mutation rate is surprisingly high (14-81%) given the lack of impact of NBCCS on reproductive capabilities. There is some evidence to suggest that this may be attributable to anticipation.

Abnormalities, Multiple↗
PubMed1994

Origins of paraphasias in deep dysphasia: testing the consequences of a decay impairment to an interactive spreading activation model of lexical retrieval.

This study investigates an account of atypical error patterns within the framework of an interactive spreading activation model. Martin and Saffran (1992) described a patient, NC, whose error pattern was unusual for the occurrence of higher rates of form-related than meaning-related word substitutions in naming and the production of semantic errors in repetition. They proposed that NC's error pattern could be accounted for by a pathologically rapid decay of primed nodes in the semantic-lexical-phonological network that shifts the probabilities of error outcome in lexical retrieval. In the present study, Martin and Saffran's account was tested and supported in a series of simulations that reproduce essential features of NC's lexical error pattern in naming and repetition. Also described here are the results of a longitudinal study of NC's naming and repetition, which revealed a shift in relative lexical error rates toward a qualitatively normal pattern. This change in error pattern was simulated by assuming that recovery reflects resolution of the rapid decay rate toward normal levels. The patient data and computational studies are discussed in terms of their significance for the understanding of aphasic impairments and their implications for models of lexical retrieval.

Acute Disease↗
PubMed1994

Establishment of a cell line from a hepatocellular carcinoma from a patient with hemochromatosis.

We describe the establishment and characterization of a novel hepatoma cell line. This cell line, designated RBHF-1, was established from a hepatocellular carcinoma of a 67-yr-old man with a history of genetic hemochromatosis. At this writing, the cells have been maintained in RPMI-1640 tissue-culture medium and fetal calf serum without any additional supplements for 30 mo. The cells form colonies on soft agar and are not tumorigenic in nude mice. The cell line is polymorphic and displays characteristics of mature hepatocytes by synthesizing albumin, alpha 2-macroglobulin, fibronectin and alpha-fetoprotein. Cytogenetic analysis shows multiple chromosomal aberrations, with a consistent deletion in the long arm and deletions or rearrangements in the short arm of chromosome 1. There is no evidence for hepatitis B or hepatitis C virus infection of the cell line. The cells contain no detectable intracellular iron after staining with Perls' stain. Unlike other hepatoma cell lines, there is no detectable binding of epidermal growth factor to RBHF-1 cells. This is the first cell line to be established from a patient with hemochromatosis, and it provides a potentially important model for the study of hepatocyte transformation in association with iron overload.

Aged↗
PubMed1994

Computer image analysis in the diagnosis of melanoma.

BACKGROUND: It is often difficult to differentiate early melanoma from benign pigmented lesions of similar clinical appearance. OBJECTIVE: Our purpose was to develop a computer image analysis system that has the potential for use as an adjunct to the clinical distinction of melanoma from less serious pigmented lesions. METHODS: The system, consisting of a hand-held device incorporating a color video camera and color frame grabber mounted in a microcomputer, was used in a pigmented lesion clinic. Analysis software extracted features relevant to the size, color, shape, and boundary of each lesion, and these features were correlated with clinical and histologic characteristics on which standard diagnoses of skin tumors are based. For discriminant analysis based on image analysis measurements, equal prior probabilities were assigned to two specified diagnostic groups, namely melanoma and "other pigmented lesions," most of which were melanocytic nevi. RESULTS: In a 20-month period, video images of 164 unselected pigmented lesions for which complete diagnostic data were available were successfully captured using the camera. Sixteen of 18 melanomas, and 89% of pigmented lesions overall, were correctly classified by the image analysis system, compared with 83% based on clinical gradings of lesion characteristics. CONCLUSION: Computer image analysis has the potential to provide a valuable diagnostic aid that could enable clinicians to make highly sensitive and specific diagnoses of early, curable melanoma.

Adolescent↗
PubMed1994

Familial testicular carcinoma: in search of genetic triggers.

Two cases of testicular tumours in non-twin brothers of a cancer-prone family are described. Cytogenetic studies of these two patients and human leucocyte antigen (HLA) typing of the family failed to identify any genetic defects. The authors propose using linkage analysis for further genetic studies but would require additional families for this to be performed.

Adult↗
PubMed1994

Amygdalohippocampal MR volume measurements in the early stages of Alzheimer disease.

PURPOSE: To evaluate the accuracy of hippocampal and amygdala volume measurements in diagnosing patients in the early stages of Alzheimer disease. METHODS: Measurements of the hippocampal formation, amygdala, amygdalohippocampal complex (the two measurements summed), caudate nucleus, and ventricles, normalized for total intracranial volume, were obtained on coronal sections (1.5 T, 400/13 [repetition time/echo time], 5 mm) of 13 patients in the mild (minimental status > or = 21) and five patients in the moderate stages of Alzheimer disease (10 < minimental status < 21), and eight age-matched control subjects. RESULTS: For patients with a minimental status score of 21 or greater, atrophy was significant for the amygdala and hippocampal formation (-36% and -25% for amygdala/total intracranial volume and hippocampal formation/total intracranial volume, respectively), but not for the caudate nucleus. No significant ventricular enlargement was found. For patients with a minimental status score less than 21, atrophy was more severe in all structures studied (amygdala/total intracranial volume, -40%; hippocampal formation/total intracranial volume, -45%; caudate nucleus/total intracranial volume, -21%), and ventricles were enlarged (63%). No overlap was found between Alzheimer disease and control values for the amygdalohippocampal volume, even in the mild stages of the disease. In Alzheimer disease patients, hippocampal formation volumes correlated with the minimental status. CONCLUSION: Hippocampal and amygdala atrophy is marked and significant in the mild stages of Alzheimer disease. Volumetric measurements of the amygdala and the amygdalohippocampal complex appear more accurate than those of the hippocampal formation alone in distinguishing patients with Alzheimer disease.

Aged↗
PubMed1994

Immunohistochemical detection of bcl-2 protein in normal and pathological human liver.

The bcl-2 protein, which prolongs cell survival by blocking apoptosis, is expressed by progenitor cells in several self-renewing tissues and by tumoral cells in some extrahepatic neoplasms. Because the liver is a slow self-renewing tissue, an immunohistochemical study of the cellular distribution of the bcl-2 protein was performed in normal liver (12 cases), nontumoral hepatic lesions (33 cases), and benign or malignant liver tumors (46 cases). In normal liver, bcl-2 was expressed by bile ductules and small bile duct epithelium, but not by hepatocytes or large bile duct epithelium. In cirrhosis and focal nodular hyperplasia, epithelial cells of the ductular proliferation were bcl-2-positive. Eight of 11 cholangiocarcinomas stained positively for bcl-2, whereas all 15 hepatocellular carcinomas were bcl-2-negative. bcl-2 was also expressed in 6 of 14 metastatic adenocarcinomas. These findings suggest that the ductular cells and small bile duct epithelial cells might have a prolonged survival and might be hepatic progenitor cells. In addition, the bcl-2 protein appears to be a marker of cholangiocarcinoma but not of hepatocellular carcinoma and could help in distinguishing between these two primary liver tumors.

Adenocarcinoma↗
PubMed1993

Karyotypic abnormalities in benign adrenocortical tumors producing aldosterone.

Because familial hyperaldosteronism type II (FH-II) includes tumor formation, we examined the karyotypes of benign adrenocortical aldosterone-producing adenomas (APAs), including those from patients with FH-II. Cell culture was successful in 12 of 14 tumors removed, two of which were from patients with FH-II. Five of the 12 tumors cultured (one from a patient with FH-II) had abnormal karyotypes. All were from male patients, and loss of the Y chromosome was observed in each. One showed loss of chromosome 19, and another showed an unbalanced t(6;7) producing partial trisomy 7q. Oncogenes are present at these breakpoints, and loss of the Y chromosome and monosomy 19 have previously been reported in neoplasia. This is the first report of cytogenetic abnormalities in benign adrenocortical tumors.

Adrenal Gland Neoplasms↗
PubMed1993

A pathway for disulfide bond formation in vivo.

Protein disulfide bond formation in Escherichia coli requires the periplasmic protein DsbA. We describe here mutations in the gene for a second protein, DsbB, which is also necessary for disulfide bond formation. Evidence suggests that DsbB may act by reoxidizing DsbA, thereby regenerating its ability to donate its disulfide bond to target proteins. We propose that DsbB, an integral membrane protein, may be involved in transducing redox potential across the cytoplasmic membrane.

Amino Acid Sequence↗
PubMed1993

Site distribution of cutaneous melanoma in Queensland.

The age-adjusted incidence rates of cutaneous melanoma in Queensland in 1987 have been analysed for 16 anatomic sites, taking into account their surface areas. In men, the incidence of invasive melanoma on the ears, a chronically sun-exposed site, was extraordinarily high with annual rates of over 200 per 10(5) units of surface area in the Queensland population. Next highest rates of over 100 melanomas per 10(5) units were found on the face, neck, shoulders and back in men and the face and shoulders in women. Comparison with site-specific incidence rates in the same population 7 1/2 years previously showed that incidence of invasive disease had significantly increased for all these sites, though the largest relative increase in this period occurred on the forearm in both men and women. Melanoma was very rare on the buttocks of both sexes and on the scalp in women, sites which receive the least sun exposure. These findings are consistent with the theory that excessive total sun exposure plays a major role in the aetiology of cutaneous melanoma.

Adult↗
PubMed1993

Asymptomatic cerebral involvement in Sjögren's syndrome: MRI findings of 15 cases.

Fifteen patients with Sjögren's syndrome without clinical evidence of central nervous system disease were studied by MRI. Signal abnormalities were observed in 9 (60%). They were always visible on T2-weighted images as small punctate areas of high signal in the basal ganglia and the white matter of the cerebral hemispheres. Abnormalities were less frequently seen on T1-weighted images. Enlargement of cerebral sulci was observed in 6 cases. The specificity and significance of these abnormalities are discussed.

Adult↗
PubMed1993

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.

The Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a life-threatening autosomal disease characterized by loss of dermal-epidermal adherence with abnormal anchoring fibrils (AF). We recently linked HS-RDEB to the type VII collagen gene (COL7A1) which encodes the major component of AF. We describe a patient who is homozygous for an insertion-deletion in the FN-4A domain of the COL7A1 gene. This defect causes a frameshift mutation which leads to a premature stop codon in the FN-5A domain, resulting in a marked diminution in mutated mRNA levels, with no detectable type VII collagen polypeptide in the patient. Our data suggest strongly that this null allele prevents normal anchoring fibril formation in homozygotes and is the underlying cause of HS-RDEB in this patient.

Base Sequence↗