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Biomedical subjects

M Ramsay

Publications and source records attributed to M Ramsay.

At least 91 records · Page 5Linked to original sources
PubMed1996

Hospital admissions attributable to rotavirus infection in England and Wales.

Laboratory reports and data on hospital admissions were used to estimate the number of hospitalizations due to group A rotavirus infection in England and Wales. Between January 1990 and December 1994, there were 75,059 laboratory reports of rotavirus infection, and 66,062 of these were in children <5 years old; rotavirus represented 39% of all pathogens identified in fecal specimens from this age group. Between April 1993 and March 1994, 1904 hospital admissions coded as "infectious intestinal disease" and 2354 coded as "noninfective gastroenteritis" occurred in children <5 in the North Thames region (a health authority representing 13% of the population in England and Wales). By modeling admission and laboratory reporting data, it was estimated that 54% of hospitalizations for intestinal infectious disease and 34% for noninfective gastroenteritis were attributable to rotavirus. By extrapolation of the North Thames data, it was estimated that 17,810 rotavirus-related hospitalizations (5/1000 children <5 years old) occurred in England and Wales during the same period. Effective vaccines have the potential to substantially reduce the number of hospital admissions due to group A rotavirus infection.

Adolescent↗
PubMed1996

Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa.

The CTG trinucleotide repeat, in the myotonic dystrophy (DM) myotonin protein kinase gene, was studied by PCR analysis in a total of 246 unrelated South African Bantu-speaking Negroids, 116 San and 27 Pygmies. The size and distribution of the CTG repeat were determined and showed that the alleles ranged in length from 5 to 22 repeats. The most common CTG repeat is 5 (25% of chromosomes) in the South African Negroids but 11 (27% of chromosomes) in the San population and 12 (22% of chromosomes) in the Pygmies. The southern African Bantu-speaking Negroids and San were found to have significantly fewer large repeat length alleles than do Caucasoid and Japanese populations. Since DM has not been observed in southern African Negroids, it is possible that the occurrence of fewer large CTG repeats in the normal range may, in part, explain this absence. It seems likely, that the rare DM mutation event postulated to have occurred on a specific chromosomal haplotype, occurred after the migration of humans from Africa.

Africa South of the Sahara↗
PubMed1996

Neonatal sucking and maternal feeding practices.

This study is the first to demonstrate an association between neonatal and later sucking ability, clinical signs of feeding ability and maternal feeding practices. Of 49 infants followed to a mean age of six weeks, 20 had some feeding problems (compensatory group), based on changes in feeding practices by their mothers, and 29 did not (non-compensatory group). Infants in the compensatory group performed less well on initial and follow-up sucking measures than infants in the non-compensatory group, indicating that they were feeding less efficiently from birth. Also, infants in the compensatory group ingested less during follow-up testing and were reported to be fed more frequently at home by their mothers than infants in the non-compensatory group. These findings strongly suggest that even among healthy infants, there may be more with problematic feeding abilities than have been previously recognized and that mothers are a reliable source of information about their infants' feeding abilities.

Age Factors↗
PubMed1996

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Cystic fibrosis (CF) is thought to be rare in the black populations of Africa who have minimal white admixture. Only a few cases have been reported but have not been studied at the molecular level. We report the detection of CFTR mutations in three southern African black patients. One was homozygous for the 3120 + 1G-->A mutation, while the other two were compound heterozygotes each with this mutation on one chromosome. The other mutations were G1249E and a previously unreported in frame 54 bp deletion within exon 17a involving nucleotides 3196-3249 (3196del54). The 3120 + 1G-->A mutation was first described in American black patients and has been shown to be a common mutation in this population (9-14% of CF chromosomes). It was also found in a black CF patient whose father, the 3120 + 1G-->A carrier, is from Cameroon. These data suggest that it is an old mutation which accounts for many of the CFTR mutations in African blacks.

Adult↗
PubMed1996

Achieving integrity of purpose: using experiential learning to align vision, systems, and people.

To truly improve our organizations, we must align three key areas: our organizational vision, our systems, and the people who work there. There must be integrity of purpose to accomplish this. This article explains how, using experimental learning techniques, to make the kinds of organizational improvements we desire. It includes descriptions of more than 10 experiential learning exercises that can be used to align vision, systems, and people.

Competency-Based Education↗
PubMed1996

Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies.

A high prevalence of myotonic dystrophy (DM) has been described in South African Caucasoid Afrikaans-speaking families in the northern Transvaal. Evidence is presented for a strong founder effect, with a single haplotype occurring on 68% of all Caucasoid DM chromosomes; among the Afrikaans speakers, the proportion was 83%. In addition to this major haplotype, five minor DM haplotypes in the Caucasoids and two minor haplotypes in DM individuals of mixed ancestry were found. All DM chromosomes, however, had a common haplotype core, namely, Alu (ins), HinfI-2 (intron 9), and TaqI-2 (D19S463). We have detected significant linkage disequilibrium between the DM mutation and particular alleles of the extragenic markers D19S112 and D19S207. Significant differences were found in allele and haplotype distributions in the Caucasoid DM and non-DM chromosomes and Negroid non-DM chromosomes. These findings together with the strong association of allele 3 at the D19S63 locus on 93% (14/15) of the South African DM chromosomes suggest that the majority of present-day DM mutations in South African Caucasoids may have originated from a common initial founder who introduced one of the European ancestral mutations.

Alleles↗
PubMed1995

Distinct components of spatial learning revealed by prior training and NMDA receptor blockade.

Synaptic plasticity dependent on N-methyl-D-aspartate (NMDA) receptors is thought to underlie certain types of learning and memory. In support of this, both hippocampal long-term potentiation and spatial learning in a watermaze are impaired by blocking NMDA receptors with a selective antagonist D(-)-2-amino-5-phosphonovaleric acid (AP5) or by a mutation in one of the receptor subunits. Here we report, however, that the AP5-induced learning deficit can be almost completely prevented if rats are pretrained in a different watermaze before administration of the drug. This is not because of stimulus generalization, and occurs despite learning of the second task remaining hippocampus dependent. An AP5-induced learning deficit is, however, still seen if the animals are pretrained using a non-spatial task. Thus, despite its procedural simplicity, the watermaze may involve multiple cognitive processes with distinct pharmacological properties; although required for some component of spatial learning, NMDA receptors may not be required for encoding the spatial representation of a specific environment.

2-Amino-5-phosphonovalerate↗
PubMed1995

Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses.

Twenty-six highly polymorphic markers were used to determine the origin of the extra haploid chromosome set in 6 triploid fetuses of type II phenotype. All had reached the third trimester of pregnancy. The extra set was maternal in origin in all cases, supporting previous research indicating longer in utero survival of maternally-derived triploid fetuses. These findings provide evidence for an instance of genomic imprinting in humans.

Adult↗
PubMed1995

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.

The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y-specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich-Turner-like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns.

Adolescent↗
PubMed1995

XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome.

A molecular investigation of 16 Bantu-speaking Black XX true hermaphrodites was undertaken in an attempt to determine the cause of the disorder. Y-specific sequences, including sequences mapping to the sex-determining region of the Y, were shown to be absent from lymphocyte tissue of all 16 patients tested. Y chromosome sequences were also absent from the ovarian and testicular components of both ovotestes of a single XX true hermaphrodite, thus excluding gonadal mosaicism involving Y chromosome sequences. Since there is evidence for Xp genes involved in testis determination/differentiation, uniparental disomy of the X chromosome was investigated in 14 XXTH families. Uniparental disomy was excluded in 12 of the 14 families, and isodisomy was excluded in the remaining two cases.

Africa, Southern↗
PubMed1995

New founder haplotypes at the myotonic dystrophy locus in southern Africa.

The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystrophy (DM) has not been described. South African Negroids have a CTG allelic distribution that is significantly different from that in Caucasoids and Japanese: the CTG repeat lengths of > or = 19 are very rare. The striking linkage disequilibrium between specific alleles at the Alu polymorphism (Alu(ins) and Alu(del)), the HinfI polymorphism (HinfI-1 and HinfI-2), and the CTG repeat polymorphism seen in Caucasoid (Europeans and Canadians) populations was also found in the South African Negroid population. Numerous haplotypes, not previously described in Europeans, were, however, found. It thus seems likely that only a small number of these "African" chromosomes were present in the progenitors of all non-African peoples. These data provide support for the "out of Africa" model for the origin of modern humans and suggest that the rare ancestral DM mutation event may have occurred after the migration from Africa, hence the absence of DM in sub-Saharan Negroid peoples.

Africa, Southern↗
PubMed1995

An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence in four unrelated African American OCA2 individuals and in two individuals, one from Zaire and the other from Cameroon. This study shows that the intragenic deletion is a common cause of OCA2 in southern African Negroids (114/146 [.78]; OCA2 chromosomes) and is associated with one common haplotype (43/55 [.78]; OCA2 chromosomes), confirming the African origin of this allele. On the basis of haplotype data, it would appear that at least seven additional, less frequent OCA2 mutations occur in this population.

Albinism, Oculocutaneous↗
PubMed1995

Molecular analysis of the CTG trinucleotide repeat in South African myotonic dystrophy families--implications for diagnosis and counselling.

Myotonic dystrophy is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin protein kinase gene. The recent elucidation of the molecular basis of myotonic dystrophy has, for the first time, made a specific molecular diagnosis of this condition a possibility. Ten South African families were analysed at the molecular level, using both PCR and Southern blot analyses for the detection of the trinucleotide repeat. Expansion of this repeat was found in 9 families and in 2 cases the grandparental origin, which was previously unknown, could be determined. It is now possible to counsel these families more effectively and to identify individuals, particularly women, who are at risk of passing on the DM mutation.

Blotting, Southern↗
PubMed1994

The epidemiology of measles in England and Wales: rationale for the 1994 national vaccination campaign.

An epidemic of between 100,000 and 200,000 cases of measles during 1995 has been predicted in England and Wales. This prediction was based on epidemiological evidence from several sources. Notifications of measles to the Office of Population Censuses and Surveys have risen in 1994, with a high proportion of cases in children aged over 10 years. An increase in the incidence of measles was seen in data from other sources, including laboratory reports of confirmed infections and consultations with general practitioners for new episodes of measles. Antibody tests were performed on saliva and serum from notified cases in several districts. Over three quarters of the notified cases in 1994 that were confirmed occurred in children of school age. The proportion of children aged 7 to 14 years who were susceptible to measles, obtained from studies of the age specific prevalence of antibody, rose from 6.0% (146/2453) in 1986 and 1987 to 9.2% (144/1565) in 1991. Mathematical modelling has predicted that the level of susceptibility anticipated in the school age population in 1995 would have been sufficient to allow a resurgence of measles. Over half of the cases in the resulting epidemic would have occurred in people aged at least 10 years and, because mortality is higher in this older age group, between 30 and 60 deaths would have occurred. A mass campaign to immunise all children of school age is expected to cause an immediate reduction in disease transmission and prevent a substantial toll of morbidity and mortality.

Adolescent↗