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Biomedical subjects

M A Morris

Publications and source records attributed to M A Morris.

At least 91 records · Page 5Linked to original sources
PubMed1992

Robinow syndrome in two siblings from consanguineous parents.

A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).

Abnormalities, Multiple↗
PubMed1992

High affinity, Ca2+ specific ATPase and Na+K(+)-ATPase in the gills of a supralittoral crab Leptograpsus variegatus.

1. The gills of Leptograpsus variegatus contain a high-affinity, Ca(2+)-activated ATPase, probably located in the basolateral plasma membrane of the gill epithelia. 2. The affinity of the ATPase for Ca2+ is in the micromolar concentration range (6-35 mumol/l). 3. The specific activity of the enzyme did not change during the moult cycle. The ATPase probably does not contribute substantially to increased calcium influx from the medium during the post moult period. 4. The enzyme is believed to function as a selective extrusion mechanism involved in the maintenance of a low cytosolic Ca2+ level in the epithelial cells.

Animals↗
PubMed1992

Lipids and Dupuytren's disease.

We studied prospectively the relationship between serum lipids and Dupuytren's disease of the hand in 85 patients, 65 men and 20 women. The Dupuytren patients had significantly higher fasting serum cholesterol and triglyceride levels than did the controls (p < 0.001). The raised levels of serum lipids appeared to be associated with the pathogenesis of Dupuytren's disease, and this may help to explain the high incidence of Dupuytren's disease in alcoholic, diabetic and epileptic patients, since these conditions are also associated with raised serum lipid levels.

Adult↗
PubMed1991

A long-term review of the Harrison-Nicolle peg in digital arthrodesis.

Fifty arthrodeses of the digital joints using the Harrison-Nicolle peg in 22 patients have been reviewed at a mean of 8.5 years after operation. 96% of these operations were judged to have been successful by our patients, most of whom were suffering from inflammatory joint disease. 66% went on to bony union, 30% to fibrous union and 4% to non-union. There was no difference in clinical outcome between the bony and fibrous union groups and only those with non-union were disappointed. All arthrodeses remained in the same angle of flexion as that in which they were originally fixed.

Adult↗
PubMed1990

Amino acid sequence and characterization of a protein inhibitor of protein kinase C.

The complete primary structure has been determined for an inhibitor protein of protein kinase C. The bovine brain-derived inhibitor has a pI of 6 and its N-terminal alanine residue is blocked by acetylation. Fragments obtained by chemical and enzymatic cleavage of the purified inhibitor were analyzed by Edman degradation, fast atom bombardment mass spectrometry, and tandem mass spectrometry. The results establish that the protein has a calculated average molecular mass of 13,690 daltons and contains 125 amino acid residues with the following sequence: (sequence: see text) The inhibitor does not show significant homology with any other known protein. Circular dichroism of the freshly prepared apoprotein indicated a secondary structural content of 23% alpha-helix, 31% beta-sheet, and 11% beta-turn. Immobilization on nitrocellulose followed by exposure to a 65Zn2(+)-containing overlay solution showed that, like protein kinase C itself, the inhibitor is a zinc-binding protein, although the sequence does not reveal a "zinc finger" structure. Competition with 10-fold molar excess Ca2+ or Mg2+ did not reduce the zinc-binding specificity of this inhibitor.

Acetylation↗
PubMed1990

Confirmation of lymphomatous pulmonary involvement by immunophenotypic and gene rearrangement analysis of bronchoalveolar lavage fluid.

Pathologic diagnosis of pulmonary involvement with lymphoma has traditionally necessitated open-lung biopsy in most cases. Specimens large enough to allow recognition of characteristic cytologic and architectural changes are usually not obtained bronchoscopically. Even when adequate biopsy specimens are available, however, unequivocal differentiation of lymphoma from benign inflammatory proliferative lesions (for example, pseudolymphoma or lymphocytic interstitial pneumonitis) is not possible on the basis of light microscopic findings alone. Pathologists have relied on immunohistologic examinations in which antibodies directed against B-cell and T-cell surface antigens are used to help distinguish benign from malignant lymphoid proliferations. Unfortunately, even immunohistologic findings may be nondiagnostic, particularly in T-cell lymphomas and in cases in which lymphoma is surrounded by a benign reactive lymphocytosis. Recent development of molecular biologic techniques (for example, Southern blotting) has provided the ability to detect a monoclonal population of cells based on detection of rearrangements of the genes that encode either B-cell immunoglobulin proteins or T-cell antigen receptor proteins. This technique is capable of detecting a clone of cells even when they constitute as little as 5% of a lymphoid infiltrate. Bronchoalveolar lavage can provide samples of sufficient size to facilitate Southern blotting. We present the first case wherein pulmonary involvement with a B-cell lymphoma was confirmed by both immunohistologic and molecular biologic studies of bronchoalveolar lavage fluid.

B-Lymphocytes↗
PubMed1990

Mitochondrial mutations in neuro-ophthalmological diseases. A review.

Mutations in the genetic material of mitochondria have been described in patients with a range of neuro-ophthalmological and neuromuscular disorders. Many cases of Leber's hereditary optic neuropathy are caused by a single point mutation, for example, and Kearns-Sayre syndrome, chronic external ophthalmoplegia, and other mitochondrial cytopathies are frequently associated with large-scale deletions of mitochondrial genes. A knowledge of the role of the mitochondrial genome and of the precise nature of these mutations is important in understanding the etiology of such diseases and is already leading to more effective therapy.

Chromosome Deletion↗
PubMed1989

[Chorionic villus sampling (CVS): level of activity and methods to resolve certain difficulties in interpretation].

As of December 1, 1988, we had, as part of our prenatal diagnostic service, studied 458 transcervical chorionic villus biopsies. Three-fourths of these samples were taken because of advanced maternal age (greater than or equal to 35 years), whereas nearly one fifth were done to alleviate parental anxiety. The remainder were performed because of a precedent chromosomal anomaly in child or parent, to determine fetal sex in the case of X-linked familial disorders, or to obtain DNA for molecular analyses. Among the cytogenetic anomalies detected after 24 to 48 hours of culture, eight involved classical trisomies. In four other instances the chromosomal abnormalities were more difficult to interpret (mosaic trisomies 10, 13 and 15, an apparently uniform trisomy 7). All four were revealed to be "false positives", since neither the amniocenteses nor the karyotypes of the normal newborns (one pregnancy is still ongoing) confirmed an abnormal karyotype. In the case of the trisomy 7 we were able, after birth of the baby, to study two placental biopsies, one of which revealed an abnormality distinct from that detected in the chorionic villi. The observations concerning a fifth false positive are more worrisome, as an apparently uniform trisomy 18, with a fetus showing growth retardation on ultrasound, could not be confirmed in the abortus. Otherwise, we have not encountered a false negative result. In this article we discuss the mechanisms potentially responsible for the cytogenetic discrepancies sometimes observed between fetal and placental tissues. Molecular analyses may help to establish whether a chromosomal anomaly present in fetal chorionic villi had its origin in the pre- or post-zygotic stage; in the latter case the aneuploidy may be uniquely extrafetal.

Chorionic Villi Sampling↗
PubMed1988

Effect of recombinant cytokines on glycolysis and fructose 2,6-bisphosphate in rheumatoid synovial cells in vitro.

Recombinant-derived human interleukin 1 (IL1) alpha and beta and interferon gamma (IFN-gamma) each produced similar increases in rheumatoid synovial cell (RSC) glycolysis, as judged by increased values for glucose uptake, lactate production and cellular fructose 2,6-bisphosphate [Fru(2,6)P2]. Measurement of Fru(2,6)P2 proved to be the most sensitive parameter for an assessment of glycolysis: IL1 alpha, IL1 beta and IFN-gamma all produced a 3-6-fold increase in this metabolite whereas tumour necrosis factor (TNF alpha) was far less effective. Prostaglandin E production was stimulated predominantly by IL1 alpha and IL1 beta rather than by IFN-gamma or TNF alpha. When combinations of cytokines were examined the addition of IFN-gamma with either IL1 alpha, IL1 beta or murine IL1 produced a synergistic increase in cellular Fru(2,6)P2. The three forms of IL1 increased Fru(2,6)P2 via the same pathway, whereas IFN-gamma acted via a different mechanism. The increase in Fru(2,6)P2 in subcultured RSC produced by addition of medium from a primary culture exceeded the maximal effects of any of the single cytokines studied, suggesting the presence of a mixture of cytokines in the primary RSC culture medium.

Arthritis, Rheumatoid↗