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Biomedical subjects

E M Thompson

Publications and source records attributed to E M Thompson.

At least 19 recordsLinked to original sources
PubMed1992

Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.

Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3.

Adult↗
PubMed1991

Problems in day care surgery.

In-patient admission represents a failure of a day care service. The hospital records of 105 patients transferred from the day ward to the in-patient wards were studied retrospectively. Of 2,039 patients treated in the day care ward, 105 (5%) required in-patient admission over a 12 month period. Of these 105 admissions, 17% did not fulfil the criteria for day care patients, 46% had surgical problems, and 35% anaesthetic-associated problems. The in-patient admission rate could be reduced by improved out-patient selection of cases, use of a separate day care theatre, increased use of local anaesthetic techniques, reduction in the use of parenteral opioids, the use of simple oral analgesics or non-steroidal anti-inflammatory agents as pre-emptive analgesia and a wider use of propofol as an induction agent which provides superior recovery from anaesthesia.

Ambulatory Surgical Procedures↗
PubMed1990

Vargula hilgendorfii luciferase: a secreted reporter enzyme for monitoring gene expression in mammalian cells.

The small marine ostracod crustacean, Vargula hilgendorfii, produces a bright blue luminous secretion which is ejected into seawater. The luminescence is due to a simple enzyme-catalyzed reaction involving only luciferase, luciferin (substrate), and molecular oxygen. Thus, V. hilgendorfii luciferase (VL) should be useful as a reporter enzyme in studies of gene expression in mammalian cells. Expression plasmids consisting of VL cDNA (vl) linked to the promoters simian virus 40 early region, Rous sarcoma virus long terminal repeat, human elongation factor, or mouse granulocyte colony-stimulating factor were introduced into a series of mammalian cell lines. Following transfection, VL activities in cell extracts and culture media were determined by a rapid light emission assay with V. hilgendorfii luciferin. Parallel experiments were carried out with the chloramphenicol acetyltransferase (CAT)-encoding gene. In all cell lines tested, VL was secreted, allowing the reporter activity to be determined directly from a small aliquot of the culture medium. The results indicate that the secreted VL enzyme is superior to CAT, firefly luciferase, and bacterial luciferase as a convenient and versatile indicator of gene expression in mammalian cells.

Animals↗
PubMed1990

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families.

Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome.

Cystic Fibrosis↗
PubMed1990

Kinetics of enteroendocrine cells with implications for their origin: a study of the cholecystokinin and gastrin subpopulations combining tritiated thymidine labelling with immunocytochemistry in the mouse.

Evidence for a common endodermal stem cell has been derived from kinetic studies in mouse small intestine which indicate that the turnover characteristics of endocrine cells are similar to those of other cell lineages (columnar and goblet cells). We have used continuous tritiated thymidine labelling and peptide immunocytochemistry on resin embedded semithin sections, a combination of techniques which have not been used before in the small intestine. Our data show that the turnover time for endocrine cells in the small intestine is 10 days, considerably longer than the four days suggested by previous studies, although for columnar and mucous cell lineages, turnover rates are similar to the published literature. In the stomach, the turnover time was very slow indeed (of the order of 45-60 days). These results show that endocrine cells do not share turnover characteristics with the other cell types and suggest that they constitute a kinetically distinct cell population independent of the other cell lineages. These data are not consistent with a common stem cell origin for gut endocrine cells.

Animals↗
PubMed1989

Cloning and expression of cDNA for the luciferase from the marine ostracod Vargula hilgendorfii.

The marine ostracod Vargula hilgendorfii ejects luciferin and luciferase into seawater to produce a bright luminous cloud. The light is due to the oxidation of luciferin, an imidazopyrazine compound, by molecular oxygen, catalyzed by luciferase. The mechanism of the reaction has been studied extensively and the 60 kcal/mol required for the blue emission have been shown to be derived from the oxidation of luciferin via a dioxetanone intermediate, in which the excited state oxyluciferin bound to luciferase is the emitter. However, only limited information is available regarding the properties of the enzyme. This paper reports the cloning and sequence analysis of the cDNA for Vargula luciferase and the expression of the cDNA in a mammalian cell system. The primary structure, deduced from the nucleotide sequence, consists of 555 amino acid residues in a single polypeptide chain with a molecular weight of 62,171. Two regions of the enzyme show significant amino acid sequence homology with an N-terminal segment of the photoprotein aequorin. The Vargula luciferase gene, which contains a signal sequence for secretion, should be well suited as a reporter in studies of gene expression.

Amino Acid Sequence↗
PubMed1989

X linked mental retardation: a family with a separate syndrome?

Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases are presented in order to discuss the phenotypic limits of the FG syndrome and to consider the need to separate other distinct but similar entities.

Female↗
PubMed1989

Kyphomelic dysplasia.

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

Bone Diseases, Developmental↗
PubMed1988

Another family with the 'Habsburg jaw'.

We report a three generation family with similar facial characteristics to those of the Royal Habsburgs, including mandibular prognathism, thickened lower lip, prominent, often misshapen nose, flat malar areas, and mildly everted lower eyelids. One child had craniosynostosis which may be part of the syndrome.

Adult↗
PubMed1988

Sorsby syndrome: a report on further generations of the original family.

Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.

Child↗
PubMed1987

Multiple pterygium syndrome: evolution of the phenotype.

The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome.

Child↗
PubMed1987

A girl with the Weaver syndrome.

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

Abnormalities, Multiple↗
PubMed1987

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.

Consanguinity↗