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Biomedical subjects

G Turner

Publications and source records attributed to G Turner.

At least 55 records · Page 3Linked to original sources
PubMed2000

Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.

rearrangements have recently been identified in the BRCA1 gene. Inclusion of a method for identifying such rearrangements should now be a prerequisite for providing a comprehensive mutation detection strategy. We have developed a semiquantitative PCR-based fluorescent assay for the detection of previously identified deletions. This method avoids the need for long PCR or Southern blotting and is suitable for large-scale epidemiological studies. The assay was used to screen 44 high-risk families within the U.K. Yorkshire Health Region. No deletions were detected, but five cases (11%) with an apparent duplication of exon 13 in BRCA1 were identified. The presence of this mutation was confirmed by long PCR. Further developments include extending the assay to include all exons of BRCA1.

BRCA1 Protein↗
PubMed2000

Reproductive decisions after neonatal screening identifies cystic fibrosis.

AIMS: To document the reproductive choices made by women in New South Wales, Australia, after neonatal screening has identified cystic fibrosis (CF). METHODS: A sample of women attending cystic fibrosis clinics in New South Wales who had a child (or children) diagnosed by neonatal screening between 1981 and 1996 were interviewed. RESULTS: Two thirds of the women chose to avoid having another child with CF. The uptake of prenatal diagnosis was 66% in women who had a subsequent pregnancy; of these 69% terminated or would have terminated an affected fetus. Fifty nine per cent of the women who decided against a further pregnancy made this decision in order to avoid having another child with CF. CONCLUSIONS: These data show that having a child with CF influenced subsequent reproductive choices. In addition to the medical advantages of an early diagnosis offered by neonatal screening, this also allows informed future reproductive decisions.

Cystic Fibrosis↗
PubMed2000

Discharge and follow-up for people with stroke: what happens and why.

OBJECTIVE: To assess the quality of the process of discharge from hospital and follow-up services for people with stroke. DESIGN: A criterion-based process audit and basic outcome measures, combined with surveys of patients' satisfaction and staff opinion of the service. SETTING: All units treating stroke patients in a health care district including an acute and a community NHS trust, and 23 participating GP practices. SUBJECTS: Process audit: documented notes of 98 stroke patients admitted and discharged over a four-month period. Patient satisfaction survey: 93 surviving stroke patients. Staff opinion survey: general practitioners, hospital doctors, therapists and nurses treating stroke patients throughout the district. RESULTS: A poor level of service was found. The main shortcomings were poor communication and liaison and a narrow focus of rehabilitation which concentrated on the assessment and provision of basic home care and activities of daily living (ADL) required to obtain discharge. There was a paucity of provision beyond this most basic level and little follow-up after discharge. Pass rates against agreed criteria were: communication between staff and patients/carers 47%, liaison between staff 44%, assessment of home-based needs 48%, assessment of domestic skills 15.5%. Fifty-one per cent of patients were referred for follow-up therapy and of these 72% started follow-up therapy within six weeks of discharge, only 27% had any follow-up assessment of activity levels and well-being. Patients were dissatisfied with the information, support services and therapy they received. The main reasons for the shortcomings were lack of awareness of the services provided, professionals' low expectations of patients' abilities, and limitations of community-based therapy services. CONCLUSIONS: Evidence from other publications suggests that these results do not indicate a service that is any worse than other districts, rather it represents the poor deal offered to stroke patients. By comprehensively assessing several aspects of the service together this methodology has been able to reveal these inadequacies and the reasons for them.

Activities of Daily Living↗
PubMed2000

Absence of knobs on parasitized red blood cells in a splenectomized patient in fatal falciparum malaria.

We present a case report of fatal falciparum malaria of a splenectomized adult Thai patient. The patient developed high peripheral parasitemia and showed signs of severe malaria with multiorgans involvement. Ultrastructure of Plasmodium falciparum-infected red blood cells in a fatal splenectomized patient and pathological features are reported for the first time with special emphasis on the role of the spleen as a modulating cytoadherence phenotype of parasitized red blood cells (PRBC). In this patient, adherence of the PRBC to the vascular endothelium of brain, kidney and lung including blood circulating cells, was noted, despite the absence of knob on the surface of the PRBC.

Cell Size↗
PubMed1999

Longitudinal course of behavioral and emotional problems in fragile X syndrome.

We describe a follow-up of a study of behavior and emotional problems in a cohort of young people with Fragile X syndrome over 7 years. The study demonstrates that there is substantial persistence of the overall level of behavior and emotional problems. However, there are changes in certain types of behavior. Scores on the "disruptive" subscale of the Developmental Behavior Checklist decline significantly, whereas those on the "antisocial" subscale increase significantly. These changes parallel those seen in a large epidemiological control sample of young people with intellectual disability due to other causes. Further, two individual behaviors that distinguished the Fragile X individuals from the control individuals in the original study, namely "shy" and "avoids eye contact," continue to do so 7 years later.

Adolescent↗
PubMed1999

Many human endogenous retrovirus K (HERV-K) proviruses are unique to humans.

BACKGROUND: Endogenous retroviruses contribute to the evolution of the host genome and can be associated with disease. Human endogenous retrovirus K (HERV-K) is related to the mouse mammary tumor virus and is present in the genomes of humans, apes and cercopithecoids (Old World monkeys). It is unknown how long ago in primate evolution the full-length HERV-K proviruses that are in the human genome today were formed. RESULTS: Ten full-length HERV-K proviruses were cloned from the human genome. Using provirus-specific probes, eight of the ten were found to be present in a genetically diverse set of humans but not in other extant hominoids. Intact preintegration sites for each of these eight proviruses were present in the apes. A ninth provirus was detected in the human, chimpanzee, bonobo and gorilla genomes, but not in the orang-utan genome. The tenth was found only in humans, chimpanzees and bonobos. Complete sequencing of six of the human-specific proviruses showed that full-length open reading frames for the retroviral protein precursors Gag-Pro-Pol or Env were each present in multiple proviruses. CONCLUSIONS: At least eight full-length HERV-K genomes that are in the human germline today integrated after humans diverged from chimpanzees. All of the viral open reading frames and cis-acting sequences necessary for HERV-K replication must have been intact during the recent time when these proviruses formed. Multiple full-length open reading frames for all HERV-K proteins are present in the human genome today.

Animals↗
PubMed1999

A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2.

Bipolar disorder is a severe mental illness characterized by mood swings of elation and depression. Family, twin, and adoption studies suggest a complex genetic etiology that may involve multiple susceptibility genes and an environmental component. To identify chromosomal loci contributing to vulnerability, we have conducted a genome-wide scan on approximately 396 individuals from 22 multiplex pedigrees by using 607 microsatellite markers. Multipoint nonparametric analysis detected the strongest evidence for linkage at 13q32 with a maximal logarithm of odds (lod) score of 3.5 (P = 0. 000028) under a phenotype model that included bipolar I, bipolar II with major depression, schizoaffective disorder, and recurrent unipolar disorder. Suggestive linkage was found on 1q31-q32 (lod = 2. 67; P = 0.00022) and 18p11.2 (lod = 2.32; P = 0.00054). Recent reports have linked schizophrenia to 13q32 and 18p11.2. Our genome scan identified other interesting regions, 7q31 (lod = 2.08; P = 0. 00099) and 22q11-q13 (lod = 2.1; P = 0.00094), and also confirmed reported linkages on 4p16, 12q23-q24, and 21q22. By comprehensive screening of the entire genome, we detected unreported loci for bipolar disorder, found support for proposed linkages, and gained evidence for the overlap of susceptibility regions for bipolar disorder and schizophrenia.

Bipolar Disorder↗
PubMed1999

Peer support and young people's health.

The health problems that young people experience are largely related to psychological and behavioural factors. Peer-led initiatives have a positive effect on several factors that influence young people's health. Self-esteem, self-efficacy and locus of control are particularly important to young people's health. The particular strengths of peer support and reciprocal peer support in achieving effective health promotion are described. Practical issues about establishing effective and sustainable peer support initiatives are discussed.

Adolescent↗
PubMed1999

Inflammatory mediators in bronchoalveolar lavage samples from children with and without asthma.

BACKGROUND: We investigated whether eosinophils and mast cells, found in the airways of children with wheeze, were activated during relatively asymptomatic periods. METHODS: A nonbronchoscopic bronchoalveolar lavage (BAL) procedure was performed on children presenting for an elective surgical procedure. Eosinophil-derived (eosinophil cationic protein, ECP) and mast cell-derived (histamine/tryptase) mediator concentrations were measured in the BAL fluid. A detailed history and serum immunoglobulin E were used to classify the children into four groups: atopic with and without asthma, viral-associated wheeze and normal controls. RESULTS: The ECP concentrations in BAL from atopic asthmatic subjects were significantly higher than those measured in BAL from normal controls (P < 0.01), no other groups differed significantly. Histamine concentrations were elevated in both the atopic asthmatic and viral-associated wheeze groups compared with controls (P < 0.02) and additionally higher concentrations were obtained in atopics with asthma compared with atopics without asthma (P < 0.03). Tryptase concentrations did not differ between groups, although the tryptase and histamine concentrations correlated significantly (r = 0.78, P < 0.0001). CONCLUSIONS: Elevated histamine concentrations were found in children with wheeze regardless of the aetiology, whereas ECP was only elevated in those asthmatics with atopy. This suggests that even in relatively quiescent periods, there is some on going activation of airway eosinophils in children with atopic asthma.

Adolescent↗
PubMed1999

Serum eosinophilic cationic protein and blood eosinophil counts for the prediction of the presence of airways inflammation in children with wheezing.

BACKGROUND: Serum eosinophilic cationic protein (ECP) concentrations may be useful noninvasive markers of airways inflammation in atopic asthma. However, the usefulness of serum ECP measurement for the prediction of airways inflammation in children with a history of wheezing is unknown. OBJECTIVE: To determine the test accuracy of serum ECP and blood eosinophil percentage as noninvasive markers of eosinophilic airways inflammation. METHODS: Bronchoalveolar lavage (BAL) fluid and peripheral blood samples for eosinophil percentages and serum ECP were obtained from children undergoing elective surgery and who gave a history of wheezing in the previous year. Sensitivity, specificity and likelihood ratios (LH) and the area under the curve (AUC) for the receiver operator characteristic (ROC) curve were calculated for each blood marker for the prediction of airways inflammation defined by a BAL eosinophil percentage > 0.86. Data were analysed on the basis of how recently symptoms had occurred. RESULTS: Seventy-seven children (median age 6.75 years) were studied. An AUC of 0.75 (log serum ECP concentration) and 0.76 (log blood eosinophil percentage) was obtained for predicting airways inflammation. A serum ECP > 13 microg/L yielded a LH of 4.4, whereas using a cutoff blood eosinophils > 4% yielded a LH of 1.9, for the prediction of elevated eosinophils in BAL. Serum ECP and eosinophil percentages in BAL and blood were lowest (not statistically significant) when last symptoms had occurred more than 12 weeks previously. CONCLUSIONS: Serum ECP and blood eosinophil percentages are useful markers for predicting eosinophilic airways inflammation in wheezing children.

Adolescent↗
PubMed1999

Diagnosis of fragile-X syndrome: the experiences of parents.

In order to assess some aspects of the quality of care for families seeking the cause of their child(ren)s intellectual disability, a postal questionnaire was sent to parents of children with fragile-X syndrome, who were members of the UK Fragile-X Society. Although the interval taken to get a diagnosis ('lagtime') has fallen over time, other aspects of care could still be improved. Most families feel that having a diagnosis is an advantage, but many still find the diagnostic process distressing and feel unsupported. Not all families are referred for genetic counselling, and even those who are do not always understand or retain the information given. Most families feel that having a diagnosis is a benefit rather than a disadvantage.

Child↗
PubMed1999

Evidence of blood-brain barrier dysfunction in human cerebral malaria.

Patients infected with the malaria parasite Plasmodium falciparum may develop a diffuse reversible encephalopathy, termed cerebral malaria. It is unclear how the intraerythrocytic parasite, which sequesters in the cerebral microvasculature but does not enter the brain parenchyma, induces this neurological syndrome. Adhesion of parasitized red blood cells in the brain microvasculature is mediated by specific receptors on the host endothelium, including intercellular adhesion molecule (ICAM)-1, CD36 and CD31. Leucocyte binding to cerebral endothelial cells in culture induces intracellular signalling via ICAM-1. The hypothesis that parasitized red blood cells binding to receptors on cerebral endothelial cells causes changes in the integrity of the blood-brain barrier was tested. Immunohistochemistry was used to examine the blood-brain barrier in human cerebral malaria, with antibodies to macrophage and endothelial activation markers, intercellular junction proteins, and plasma proteins. The distribution of the cell junction proteins occludin, vinculin and ZO-1 were altered in cerebral malaria cases compared to controls. While fibrinogen was the only plasma protein detected in the perivascular space, there was widespread perivascular macrophage activation, suggesting that these cells had been exposed to plasma proteins. It was concluded that functional changes to the blood-brain barrier occur in cerebral malaria, possibly as a result of the binding of parasitized red blood cells to cerebral endothelial cells. These changes require further examination in vitro.

Adolescent↗