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Biomedical subjects

G Turner

Publications and source records attributed to G Turner.

At least 19 recordsLinked to original sources
PubMed2006

Career choices for radiology: national surveys of graduates of 1974-2002 from UK medical schools.

AIM: To report on trends in career choices for radiology among UK medical graduates. MATERIALS AND METHODS: One and 3 years after graduation, and at longer time intervals thereafter, postal questionnaire surveys were sent to all doctors who graduated from UK medical schools in 1974, 1977, 1980, 1983, 1993, 1996, 1999, 2000 and 2002. Doctors were asked to specify their choice of long-term career and to identify factors influencing their choice. Employment details were also collected. Results were analysed using chi(2) statistics and binary logistic regression. RESULTS: Seventy-four percent (24,621/33,412) and 73% (20,720/28,459) of doctors responded 1 and 3 years after graduation. Choices for radiology in year 1 increased significantly over time (1.7% of 1974 graduates to 3.2% of 2002 graduates; chi(2) test for trend=15.3, p<0.001). In particular, there has been a steady increase from the cohorts of 1993 onwards. Thirty-eight percent of those who chose radiology in year 1, and 80% who chose radiology in year 3, were still working in radiology 10 years after graduation. Hours and working conditions influenced long-term career choices more for radiology than for other careers. CONCLUSIONS: The proportion of UK trained junior doctors who want to become radiologists has increased in recent years. However, although medical school intake and the numbers making an early choice for radiology have risen, it is unclear whether sufficient UK graduates will be attracted to radiology to fulfil future service requirements from UK trained graduates alone.

Attitude of Health Personnel↗
PubMed2006

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.

Amino Acid Sequence↗
PubMed2006

Career choices for obstetrics and gynaecology: national surveys of graduates of 1974-2002 from UK medical schools.

OBJECTIVE: To report the trends in career choices for obstetrics and gynaecology among UK medical graduates. DESIGN: Postal questionnaire surveys of qualifiers from all UK medical schools in nine qualification years since 1974. SETTING: United Kingdom. POPULATION: All graduates from UK medical schools in 1974, 1977, 1980, 1983, 1993, 1996, 1999, 2000 and 2002. METHODS: Postal questionnaire surveys. MAIN OUTCOME MEASURES: Career choices for obstetrics and gynaecology and factors influencing career choices for obstetrics and gynaecology. RESULTS: Seventy-four percent (24,623/33,417) and 73% (20,709/28,468) of doctors responded at 1 and 3 years after qualification. Choices for obstetrics and gynaecology fell sharply during the 1990s from 4.2% of 1996 qualifiers to 2.2% of 1999 qualifiers, and rose slightly to 2.8% of 2002 qualifiers. Only 0.8% of male graduates of 2002 chose obstetrics and gynaecology compared with 4.1% of women. Forty-six percent of those who chose obstetrics and gynaecology 1 year after qualification were working in it 10 years after qualifying. Experience of the subject as a student, and the influence of a particular teacher or department, affected long-term career choices more for obstetrics and gynaecology than for other careers. CONCLUSIONS: The unwillingness of young doctors to enter obstetrics and gynaecology may be attributable to concerns about workforce planning and career progression problems, rather than any lack of enthusiasm for the specialty. The number of men choosing obstetrics and gynaecology is now very small; the reasons and the future role of men in the specialty need to be debated.

Attitude of Health Personnel↗
PubMed2005

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome of individuals with a congenital disorder. In this study, 40 patients with non-specific X linked mental retardation were analysed with full coverage, X chromosomal, bacterial artificial chromosome arrays. Copy number changes were validated by multiplex ligation dependent probe amplification as a fast method to detect duplications and deletions in patient and control DNA. This approach has the capacity to detect copy number changes as small as 100 kb. We identified three causative duplications: one family with a 7 Mb duplication in Xp22.2 and two families with a 500 kb duplication in Xq28 encompassing the MECP2 gene. In addition, we detected four regions with copy number changes that were frequently identified in our group of patients and therefore most likely represent genomic polymorphisms. These results confirm the power of array CGH as a diagnostic tool, but also emphasise the necessity to perform proper validation experiments by an independent technique.

Chromosome Aberrations↗
PubMed2005

Career choices for anaesthesia: national surveys of graduates of 1974-2002 from UK medical schools.

BACKGROUND: Knowledge about UK doctors' career intentions and pathways is essential for understanding future workforce requirements. The aim of this study was to report career choices for and career progression in anaesthesia in the UK. METHODS: Postal questionnaire surveys were undertaken of qualifiers from all UK medical schools in nine qualification years since 1974. RESULTS: 74% (24623/33417) and 73% (20709/28468) of doctors responded at 1 and 3 yr after qualification. At 1 and 3 yr after qualification, on average, 8% of doctors chose anaesthesia. Between 1974 and 2002 the percentage of doctors choosing anaesthesia, 1 yr after qualification, increased from 5 to 12%. A majority of doctors who chose anaesthesia 1 and 3 yr after qualification were working in anaesthesia 10 yr after qualification. In addition to doctors' enthusiasm for the specialty, career choices for anaesthesia were positively influenced by their perception of working hours, conditions of work, and career and promotion prospects. CONCLUSIONS: Anaesthesia has become increasingly popular as a career choice in the UK. Training numbers could be increased in the short term to speed up the process of providing a consultant-delivered service.

Adult↗
PubMed2005

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

BACKGROUND: Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function. OBJECTIVE: To present the results of mutation screening in individuals referred for PHF6 testing and discuss the value of prior X-inactivation testing in the mothers of these individuals. RESULTS: 25 unrelated individuals were screened (24 male, one female). Five PHF6 mutations were detected, two of which (c.940A-->G and c.27_28insA) were novel. One of these new mutations, c.27_28insA, was identified in a female BFLS patient. This was shown to be a de novo mutation arising on the paternal chromosome. This is the first report of a clinically diagnosed BFLS female with a confirmed PHF6 mutation. In addition, the X-inactivation status of the mothers of 19 males with suggested clinical diagnosis of BFLS was determined. Skewed (> or =70%) X-inactivation was present in five mothers, three of whom had sons in whom a PHF6 mutation was detected. The mutation positive female also showed skewing. CONCLUSIONS: The results indicate that the success of PHF6 screening in males suspected of having BFLS is markedly increased if there is a positive family history and/or skewed X-inactivation is found in the mother.

Abnormalities, Multiple↗
PubMed2004

Identification of a novel gene hbrB required for polarised growth in Aspergillus nidulans.

We have cloned a novel gene, hbrB, by complementation of a temperature sensitive hyperbranching (hbr) mutant of Aspergillus nidulans. The mutant, hbrB3, exhibits hyperseptation and shows a marked increase in hyphal branching at the restrictive temperature. A genomic library incorporating the AMA1 sequence, which confers autonomous replication on the plasmid, was used to clone the gene. Co-ordinate loss of the complementing plasmid and wild type phenotype was shown. The 847 amino acid predicted product of the hbrB gene shows significant identities with Neurospora crassa and Aspergillus fumigatus hypothetical proteins but no other obvious relative outside the filamentous fungi. The gene was placed under control of the alcA promoter and downregulation resulted in a loss of polarity phenotype. These results suggest that A. nidulans hbrB is specific to filamentous fungi and is essential for hyphal growth and polarity. Index descriptors: Aspergillus nidulans; branching; hbrB; hyphal growth and polarity

Artificial Gene Fusion↗
PubMed2004

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

The usual description of the Börjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age. Generally, in the first year, the babies are floppy, with failure to thrive, big ears, and small external genitalia. As schoolboys, the picture is one of learning problems, moderate short stature, with emerging truncal obesity and gynecomastia. Head circumferences are usually normal, and macrocephaly may be seen. Big ears and small genitalia remain. The toes are short and fingers tapered and malleable. In late adolescence and adult life, the classically described heavy facial appearance emerges. Some heterozygous females show milder clinical features such as tapering fingers and shortened toes. Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females.

Abnormalities, Multiple↗
PubMed2004

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.

Adult↗
PubMed2003

Disruption of doubly uniparental inheritance of mitochondrial DNA in hybrid mussels (Mytilus edulis x M. galloprovincialis).

Blue mussels of the genus Mytilus have an unusual mode of mitochondrial DNA inheritance termed doubly uniparental inheritance (DUI). Females are homoplasmic for the F mitotype which is inherited maternally, whereas males are heteroplasmic for this and the paternally inherited M mitotype. In areas where species distributions overlap a varying degree of hybridization occurs; yet genetic differences between allopatric populations are maintained. Observations from natural populations and previous laboratory experiments suggest that DUI may be disrupted by hybridization, giving rise to heteroplasmic females and homoplasmic males. We carried out controlled laboratory crosses between Mytilus edulis and M. galloprovincialis to produce pure species and hybrid larvae of known parentage. DNA markers were used to follow the fate of the F and M mitotypes through larval development. Disruption of the mechanism which determines whether the M mitotype is retained or eliminated occurred in an estimated 38% of M. edulis x M. galloprovincialis hybrid larvae, a level double that previously observed in adult mussels from a natural M. edulis x M. galloprovincialis hybrid population. Furthermore, reciprocal hybrid crosses exhibited contrasting types of DUI disruption. The results indicate that disruption of DUI in hybrid mussels may be associated with increased mortality and hence could be a factor in the maintenance of genetic integrity for each species.

Animals↗
PubMed2002

Consultant rheumatology workforce in the UK: changing patterns of provision 1997-2001.

OBJECTIVES: To summarize the changes in rheumatology provision and working practice that have occurred on the basis of the results of the 1997, 1999 and 2001 surveys carried out to update the British Society for Rheumatology/Arthritis Research Campaign Rheumatology Workforce Register. METHODS: The Workforce Register includes all consultant rheumatologists in the UK who do at least one NHS clinical session per week. Questionnaires were sent to all consultants on the register at the beginning of 1997, 1999 and 2001. The questionnaires asked about clinical commitments and workload. RESULTS: The response rates for 1997, 1999 and 2001 surveys were 85, 86 and 92% respectively. Scotland, Wales and Northern Ireland all had fewer consultant rheumatologists per capita than any English region. Within England, the London region had 60% more rheumatologists per capita than any other English region. CONCLUSION: There are ongoing inequalities in the provision of rheumatology, especially between London and Scotland, Wales and Northern Ireland.

Consultants↗
PubMed2002

The prevalence of rheumatoid arthritis in the United Kingdom: new estimates for a new century.

BACKGROUND: It is 40 yr since the last age- and sex-specific estimates of the prevalence of rheumatoid arthritis (RA) for the UK were published. Since then the classification criteria for RA have been revised and there has been evidence of a fall in the incidence of RA, especially in women. OBJECTIVES: To estimate the age- and sex-specific point prevalence of RA (defined as fulfilment of a modification of the 1987 ACR classification criteria for RA on the day of assessment). The estimate was made in the primary care setting in Norfolk, UK. METHODS: A stratified random sample was drawn from seven age and gender bands. The 7050 individuals selected were mailed a screening questionnaire. Positive responders were invited to attend for a clinical examination. The sample was matched against the names in the Norfolk Arthritis Register (NOAR), a register of incident cases of inflammatory polyarthritis which has been in existence since 1990. RESULTS: The overall response rate was 82%. Sixty-six cases of RA were identified. Extrapolated to the population of the UK, the overall minimum prevalence of RA is 1.16% in women and 0.44% in men. A number of incident cases of RA previously notified to NOAR were not identified as cases in the survey because they had entered into treatment-induced remission. In addition, some cases who failed to attend for examination had significant disability. These prevalence figures are therefore an underestimate. CONCLUSIONS: The prevalence of RA in women, but not in men, in the UK may have fallen since the 1950s.

Adolescent↗
PubMed2001

Cellular determinants of the mutational specificity of 1-nitroso-6-nitropyrene and 1-nitroso-8-nitropyrene in the lacI gene of Escherichia coli.

We have characterized 202 lacI(-) mutations, and 158 dominant lacI(-d) mutations following treatment of Escherichia coli strains NR6112 and EE125 with 1-nitroso-6-nitropyrene (1,6-NONP), an activated metabolite of the carcinogen 1,6-dinitropyrene. In all, 91% of the induced point mutations occurred at G:C residues. The -(G:C) frameshifts were the dominant mutational class in the lacI(-) collections of both NR6112 and EE125, and in the lacI(-d) collection of NR6112. Frameshift mutations occurred preferentially in runs of guanine residues, and their frequency increased with the length of the reiterated sequence. In strain EE125, which contained the plasmid pKM101, there was a marked stimulation in the frequency of base substitution mutations that was particularly apparent in the lacI(-d) collection. This study completes a comprehensive analysis of 1194 lacI(-) and 348 lacI(-d) mutations induced by either 1,6-NONP or its positional isomer 1-nitroso-8-nitropyrene (1,8-NONP) in strains of E. coli that differ with regard to their ability to carry out nucleotide excision repair and/or their ability to express the translesion synthesis DNA polymerase RI (MucAB) encoded by plasmid pKM101. Among the mutations are 763 frameshift mutations, 367 base substitutions and 47 deletions; these mutations have been characterized at more than 300 distinct sites in the lacI gene. Our studies provide detailed insight into the DNA sequence alterations and mutational mechanisms associated with dinitropyrene mutagenesis. We review the mutational spectra, and discuss cellular lesion repair or tolerance mechanisms that modulate the observed mutational specificity.

Amino Acid Substitution↗
PubMed2001

Insertional polymorphisms of full-length endogenous retroviruses in humans.

Human endogenous retrovirus K (HERV-K) is distinctive among the retroviruses in the human genome in that many HERV-K proviruses were inserted into the human germline after the human and chimpanzee lineages evolutionarily diverged [1, 2]. However, all full-length endogenous retroviruses described to date in humans are sufficiently old that all humans examined were homozygous for their presence [1]. Moreover, none are intact; all have lethal mutations [1, 3, 4]. Here, we describe the first endogenous retroviruses in humans for which both the full-length provirus and the preintegration site alleles are shown to be present in the human population today. One provirus, called HERV-K113, was present in about 30% of tested individuals, while a second, called HERV-K115, was found in about 15%. HERV-K113 has full-length open reading frames (ORFs) for all viral proteins and lacks any nonsynonymous substitutions in amino acid motifs that are well conserved among retroviruses. This is the first such endogenous retrovirus identified in humans. These findings indicate that HERV-K remained capable of reinfecting humans through very recent evolutionary times and that HERV-K113 is an excellent candidate for an endogenous retrovirus that is capable of reinfecting humans today.

Alleles↗
PubMed2001

The Aspergillus nidulans metE gene is regulated by a second system independent from sulphur metabolite repression.

Mutations in the Aspergillus nidulans metE gene lead to requirement for O-acetylhomoserine. The gene was cloned by complementation of the metE31 mutation. The coding sequence was found to be interrupted by two introns of 66 and 50 bp, respectively. metE codes for a peptide of 489 amino acids which belongs to the family of homoserine O-acetyltransferases and a well-defined superfamily of alpha/beta hydrolases. Transcription of the metE gene is strongly up-regulated by a severe limitation of methionine, but not of cysteine. This gene is the first sulphur metabolism gene described in A. nidulans which is not regulated by the sulphur metabolite repression system in which cysteine acts as the low-molecular-weight effector.

Amino Acid Sequence↗
PubMed2001

A HERV-K provirus in chimpanzees, bonobos and gorillas, but not humans.

Evidence from DNA sequencing studies strongly indicated that humans and chimpanzees are more closely related to each other than either is to gorillas [1-4]. However, precise details of the nature of the evolutionary separation of the lineage leading to humans from those leading to the African great apes have remained uncertain. The unique insertion sites of endogenous retroviruses, like those of other transposable genetic elements, should be useful for resolving phylogenetic relationships among closely related species. We identified a human endogenous retrovirus K (HERV-K) provirus that is present at the orthologous position in the gorilla and chimpanzee genomes, but not in the human genome. Humans contain an intact preintegration site at this locus. These observations provide very strong evidence that, for some fraction of the genome, chimpanzees, bonobos, and gorillas are more closely related to each other than they are to humans. They also show that HERV-K replicated as a virus and reinfected the germline of the common ancestor of the four modern species during the period of time when the lineages were separating and demonstrate the utility of using HERV-K to trace human evolution.

Animals↗