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Biomedical subjects

M G Butler

Publications and source records attributed to M G Butler.

At least 163 records · Page 9Linked to original sources
PubMed1987

High resolution chromosome and DNA analysis in multiple endocrine neoplasia type II syndrome.

Multiple endocrine neoplasia type II (MEN-II or Sipple's syndrome) is an autosomal dominant disorder characterized by medullary thyroid cancers, pheochromocytomas, and parathyroid adenomas. A blind analysis of high resolution G-banded chromosomes was performed on blood specimens from eight MEN-II individuals from three unrelated families and six control subjects. Seven of eight MEN-II patients and one of six control subjects were determined to have a deletion at 20p12.2. These findings support the hypothesis that MEN-II patients have a 20p12.2 deletion (chi 2 = 6.99; p less than 0.01). Genomic DNA from seven of the eight MEN-II patients was studied using the DNA probe, D20S5, localized by in situ hybridization to 20p12. The probe binding site is not deleted in some MEN-II patients, as demonstrated by the presence of two alleles detected as restriction fragment length polymorphisms. Thus, D20S5 does not hybridize to DNA sequences that are deleted based on cytogenetic analysis in MEN-II patients.

Alleles↗
PubMed1987

Cytogenetic studies of individuals from four kindreds with multiple endocrine neoplasia type II syndrome.

Multiple endocrine neoplasia type II (MEN-II) syndrome is an autosomal dominant condition characterized by medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid adenoma. A cytogenetic investigation was conducted on 13 MEN-II syndrome patients from four unrelated kindreds and 13 age-matched control subjects for chromosome instability and the chromosome 20 deletion reported in MEN-II syndrome. A significant increase (p less than 0.05) was found in the total number of chromatid and chromosome aberrations in MEN-II cells (12.3%) compared with control cells (6.9%) grown at 96 hours in mitomycin C (20 ng/ml, final concentration). The major difference between the two groups was in chromatid, and not chromosome, aberrations. There was no difference between MEN-II and control individuals in fragile site expression, the number of sister chromatid exchanges or cell kinetics. A blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from 13 MEN-II and seven control individuals. Twelve of 13 MEN-II patients and one of seven control subjects were scored as having a 20p12.2 deletion (chi 2 = 12.6; p less than 0.001). Additional research is needed to determine if this cytogenetic finding is due to a chromosome deletion, inversion, or polymorphism.

Adult↗
PubMed1987

Robinow syndrome: report of two patients and review of literature.

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow-up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype. Development delay and mental retardation was noted in 18% of the reported cases. Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical differences were identified among those individuals with different inheritance patterns. Male to male transmission was reported in one family. Parental age does not appear to be a factor in the cause of this syndrome.

Abnormalities, Multiple↗
PubMed1987

New marker of B lymphocytes, MB2: comparison with other lymphocyte subset markers active in conventionally processed tissue sections.

The use of the murine monoclonal antibody MB2 for identifying B lymphocytes in routinely processed tissue was evaluated and contrasted with the use of the monoclonal antibody UCHL1 for identifying T cells. One hundred and sixty eight surgical biopsy specimens were immunostained with these antibodies, including a wide range of normal and neoplastic non-lymphoid tissues, as well as normal lymphoreticular tissues and lymphomas. Sixty four non-Hodgkin's lymphomas were also examined, of which 51 had been previously phenotypically defined. In selected cases the results were compared with those obtained using two other monoclonal antibodies MB1 and MT1, used for identifying B and T cells, respectively, in paraffin sections. MB1 stained a smaller proportion of B cell tumours than MB2 and staining was, in general, weaker, except in one case of centroblastic lymphoma. MT1 immunoreactivity was comparable with that of UCHL1, except in one case of T lymphoblastic lymphoma (MT1 positive, UCHL1 negative). None of the antibodies is ideal, but, if used as a panel, they permit the separation of B cells and T cells in paraffin sections.

Antibodies, Monoclonal↗
PubMed1987

Rapid technique of DNA-DNA in situ hybridisation on formalin fixed tissue sections using microwave irradiation.

The relative sensitivities of different protocols for detecting cytomegalovirus nucleic acid sequences in histological specimens, using a biotinylated cDNA probe, were assessed. Several commonly used pre-treatment steps were not essential, nor was the use of a highly sensitive detection system. The choice of enzyme used for proteolytic digestion of tissue seems to be important, and increasing the temperature of denaturation of tissue and probe DNA to above 100 degrees C greatly increased the sensitivity of the method. Difficulties in achieving such high temperatures in a controlled manner were overcome by the use of a rapid microwave heating method that can be used routinely in laboratories. This technique detected cytomegalovirus infections in formalin fixed, paraffin processed tissue sections within a single working day.

Cytomegalovirus↗
PubMed1987

Demonstration of lymphoid antigens in decalcified bone marrow trephines.

A panel of antibodies recognising lymphoid and epithelial antigens in formalin fixed, paraffin embedded sections was applied to a series of 54 bone marrow trephines decalcified by formic or edetic acids. Normal trephines and cases infiltrated by myeloid, lymphoid, and epithelial tumours were included. Patterns of reactivity were distinct and allowed the different diseases to be distinguished. All lymphoid tumours expressed leucocyte common antigen, with B cell tumours staining with MB1 and MB2, and T cell tumours staining with MT1 and UCHL1. T cell acute lymphoblastic leukaemia (ALL)/lymphoblastic lymphoma all stained with MT1, but some were negative with UCHL1. B cell ALL/lymphoblastic lymphoma also stained with MT1, but could be distinguished by its reactivity with MB1 and MB2. Reed-Sternberg cells did not stain with any reagent. Normal and neoplastic myeloid cells stained with MT1. Carcinomas stained with CAM 5.2 but were negative for lymphoid markers except MB2 staining in some cases. A case of neuroblastoma could be distinguished from ALL/lymphoblastic lymphoma by its lack of reactivity with all antileucocyte antibodies and its staining with antineurone specific enolase. Although not ideal, if used together, this panel of reagents may usefully be applied to routinely fixed and processed, decalcified bone marrow trephines.

Antibodies, Monoclonal↗
PubMed1987

Acetone/periodate-lysine-paraformaldehyde (PLP) fixation and improved morphology of cryostat sections for immunohistochemistry.

Cryostat sections are extensively used in the study of lymphoid tissues because the majority of antigens do not survive routine fixation and processing. A major disadvantage of cryostat section immunohistochemistry is their poor morphology. The use of periodate-lysine-paraformaldehyde (PLP) fixation regimes for cryostat sections was evaluated and compared with conventional acetone immersion. This fixation gives excellent morphology but poor immunostaining. The quality of immunostaining with a panel of 31 antibodies was good with brief acetone fixation followed by PLP fixation. Morphological preservation was very good. We suggest that acetone-PLP fixation is an improvement over acetone alone for cryostat section immunohistochemistry.

Acetone↗
PubMed1986

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.

Adolescent↗
PubMed1986

Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones. The metacarpophalangeal pattern profile (MCPP) developed by Poznanski, Garn, and others (Poznanski et al. Birth Defects VIII (5): 125-131, 1972) is a graphic representation of the relative lengthening and shortening of the 19 tubular bones of the hand useful for diagnosis, comparison of dissimilar patients, and gene carrier detection. The profile hand bone measurements are derived from posteroanterior hand radiographs and are standardized for age and sex. Specific profiles have been developed for several syndromes. Therefore, MCPP analysis has developed from a method of describing changes in the hand to a technique useful in assigning a diagnosis to a specific syndrome and evaluation of skeletal development. The current status of MCPP analysis in clinical genetics, particularly with the Prader-Labhart-Willi and Sotos syndromes, is discussed.

Adolescent↗
PubMed1986

Cytokeratin and laminin immunostaining in the diagnosis of cutaneous neuro-endocrine (Merkel cell) tumours.

Nine cutaneous neuro-endocrine tumours have been immunostained with monoclonal antibodies to low molecular weight cytokeratin (CAM 5.2) and neurofilament. Polyclonal antisera to neurone-specific enolase, calcitonin and laminin were also used. All nine cases showed paranuclear, dot-like positive staining with CAM 5.2 and diffuse cytoplasmic staining for neurone-specific enolase. Neurofilament and calcitonin immunoreactivity could not be demonstrated. All tumours were negative for laminin immunoreactivity. The limitations of staining for neurone-specific enolase are discussed and the value of CAM 5.2 in the differential diagnosis of cutaneous neuro-endocrine tumours is emphasized. The histogenetic implications of the absence of laminin staining are considered.

Aged↗
PubMed1986

Isolated atrial amyloid contains atrial natriuretic peptide: a report of six cases.

Twenty five specimens of the human right atrial appendage were examined for immunoreactivity to alpha human atrial natriuretic peptide. In the electron microscope characteristic amyloid fibrils were identified around small blood vessels and adjacent to atrial muscle cells in eight of the surgical cases and in two necropsy cases. In six cases, four surgical and two necropsy, these fibrils contained immunoreactive alpha human atrial natriuretic peptide. Amyloid is known to occur in peptide secreting endocrine tumours and immunoreactive peptide may be incorporated in the amyloid matrix. The demonstration of atrial amyloid containing immunoreactive alpha human atrial natriuretic peptide suggests that some deposits of cardiac amyloid are of a type analogous to that found in other endocrine organs.

Adult↗