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T Read

Publications and source records attributed to T Read.

35 records · Page 2Linked to original sources

Exclusion of linkage of schizophrenia to the gene for the dopamine D2 receptor (DRD2) and chromosome 11q translocation sites.

There have been previous reports of a 1q43;11q21 translocation cosegregating with schizophrenia and a 9p22;11q22.3 translocation cosegregating with manic depression. In addition, the genes for the dopamine D2 receptor and for tyrosinase both map to chromosome 11q. Three 11q DNA markers were used to investigate 23 pedigrees containing multiple cases of schizophrenia. Strongly negative lod scores were obtained, providing evidence against linkage over a 70 cM region which included both translocation sites and both candidate genes.

Chromosome Mapping↗

Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia.

BACKGROUND: A susceptibility locus for schizophrenia in the pseudoautosomal region has been proposed on the basis of a possible excess of sex chromosome aneuploidies among patients with schizophrenia and an increased sex concordance in affected sib pairs. Several studies investigating this hypothesis have produced conflicting evidence. METHOD: In a series of Icelandic and British families, we used lod score and sib pair linkage analyses with markers for the MIC2 and DXYS14 loci on the pseudoautosomal XY region. RESULTS: Lod and sib pair linkage analysis with these markers produced strongly negative scores. Heterogeneity testing also produced negative results. CONCLUSION: We conclude that the present study provides no support for the involvement of either the pseudoautosomal region or the nearby region of the sex chromosomes in the aetiology of schizophrenia.

Aneuploidy↗

The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia.

Marfan syndrome (MS) is a rare autosomal dominant disorder of connective tissue with manifestations in the cardiovascular, ocular and skeletal systems. Genetic linkage analysis with random probes has mapped the MS locus to 15q21.1. There have been several reports of Marfan syndrome co-segregating with schizophrenia within families, which suggest that a common genetic factor may be shared between schizophrenia susceptibility and MS. This could be due to a cytogenetic abnormality affecting both genetic loci or due to co-segregation of two disease loci near each other on the same chromosome. We tested this hypothesis by using genetic linkage analysis with multiplex families. Using three genetic markers spanning the MS locus, we were unable to find evidence of linkage with schizophrenia across the Marfan syndrome locus on chromosome 15.

Chromosomes, Human, Pair 15↗

Effect of sequential early burn wound excision and closure on postburn oxygen consumption.

OBJECTIVE: To determine the effect of early excision and closure of burns on postburn hypermetabolism, measured as oxygen consumption (VO2). METHODS: Twelve patients with deep burns of 30% to 50% of total body surface underwent sequential excisions and wound coverage, beginning 1 to 3 days after burn. The majority of the deep burn was removed by day 7, but with the addition of a donor site area of 20% to 25% of total body surface. RESULTS: No decrease in VO2 was noted in relation to the percent removal of burn tissue. In addition, a transient further increase in VO2 was noted early after excision, especially with surgical procedures performed after 5 days. This response could not be attributed to wound manipulation-induced bacteremias. CONCLUSION: We conclude that early surgical excision and closure of burns in excess of 30% to 50% of total body surface do not decrease postburn hypermetabolism in proportion to the area closed. It is possible that remaining open wounds in the form of donor sites and nonexcised burn are sufficient to perpetuate the hypermetabolic process, once established.

Adult↗

The new genetics.

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Genetic Counseling↗

Recent and future molecular genetic research into schizophrenia.

The difficulties anticipated in the application of molecular genetics to schizophrenia research have not prevented the first successful localization of a susceptibility gene for a subtype of schizophrenia. It is argued that this approach is the most useful of the possible molecular genetic strategies because it leads both to enhanced clinical genetic investigation and to further recombinant DNA research to clone and sequence schizophrenia susceptibility mutations. Future recombinant DNA research can now use long-range mapping and cloning techniques such as the chromosome walking/jumping approach and the strategy of cloning brain-specific cDNAs from brain mRNA. The identification of carriers for high-risk studies and the genetic validation of diagnosis appear to be the most promising clinical developments. Prenatal counseling will only become widely feasible when much more is known about the extent of heterogeneity of linkage in schizophrenia.

Chromosomes, Human, Pair 5↗

Incidence and morbidity of extubation failure in surgical intensive care patients.

The rate of extubation failure (reintubation rate) was determined for 700 consecutive extubations in surgical patients admitted to one of two ICUs. Patients were weaned in a standardized fashion and extubated using a standardized gas exchange and mechanics criteria. Of 400 extubations in the general surgical ICU, there were 22 reintubations in 20 patients. Average age was 65 yr, and the major reason for reintubation was need for positive-pressure ventilation. Morbidity (pulmonary edema and/or pneumonia) was 36%, and the inhospital mortality was 40% in this group. The major cause of death was progressive cardiopulmonary failure. There were 10 failures in eight patients, of 300 extubations in the Burn/Trauma unit, where the mean age was 44 yr. Five failures occurred in patients with smoke inhalation and burns, a 13% incidence in this population. The reason for reintubation was airway maintenance and pulmonary toilet. Four failures occurred in head injury patients, a 5% incidence with the major reason for reintubation being airway protection. Morbidity was 60% (new pulmonary infiltrates), while mortality rate was only 10% in this group. Only one failure was noted in a nonhead-injured trauma patient. In no group studied were any predictors of extubation failure detected. We conclude that the incidence, reasons for, and outcome of reintubations in surgical ICU patients varies dramatically depending on the underlying disease process. Overall failure rate was 4%.

Adult↗

Restrictive pulmonary dysfunction caused by the grafted chest and abdominal burn.

We report on the effect of the excised and grafted chest and abdominal burn on lung function. Six consecutive patients with 3 degree burns to the entire chest and abdomen (72 +/- 10% total body surface area 3 degree burns) were studied. A severe restrictive lung dysfunction due to the noncompliant nature of the excised and grafted chest and abdominal wound was identified; this was most evident when inspiratory pressure (IP) was even modestly impaired with general anesthetics. Measured vital capacity (VC) was 12 to 14 ml/kg at 6 to 8 wk postburn, in the absence of any significant parenchymal injury. The measured VC was identical to the tidal volume (VT) used during the extended period of mechanical ventilatory support. Dynamic compliance (or characteristic) (Cdyn) decreased dramatically from 35 +/- 8 to 15 +/- 9 ml/cm H2O when the positive pressure VT was increased by as little as 100 ml above prior VT settings, indicating the noncompliant nature of the combined chest and abdominal excised and grafted burn. Major cardiopulmonary complications developed in the first two patients after onset of the restrictive process when general anesthesia was used for grafting procedures (n = 8) and the limits of chest wall excursion were unrecognized. Patients received only continuous positive airway pressure preoperatively. A modest but significant decrease in IP from -45 +/- 8 to -33 +/- 5 cm H2O and 30% decrease in spontaneous VT were noted in the early postoperative period. These changes, however, resulted in a dramatic decrease in pulmonary function leading to hypercarbia, PCO2 greater than 50 torr.(ABSTRACT TRUNCATED AT 250 WORDS)

Abdominal Injuries↗

A survey of doctors in Sydney, Australia: perspectives and practices regarding epilepsy and those affected by it.

Using random selection to exclude socioeconomic bias, a sample of 50 general practitioners (GPs) was interviewed and a piloted questionnaire completed for each respondent. The study defined the doctors' experience and knowledge together with their management practices and attitudes towards the social issues which play such a considerable role in patient care. The findings from this survey were compared with current literature and discrepancies defined and discussed with the aim of indicating how total patient care could be improved.

Attitude to Health↗

Demographics of an epileptic population.

The demographic data of 100 people with epilepsy were compared with established information concerning the community in which they lived. No real difference was identified.

Adolescent↗

A comparison of diazepam and phenoperidine in premedication for upper gastrointestinal endoscopy: a randomized double blind controlled study.

A variety of agents are used as premedication for upper gastrointestinal endoscopy (U.G.E.). To our knowledge, no double blind studies have been performed to compare their value. In this study phenoperidine (2 mg i.v.) was compared with diazepam (t mg i.v.) in 200 consecutive patients undergoing elective U.G.E. The study was randomized and double blind in regard to both endoscopists and patients. All patients were given atropine (0.4 mg i.v.) and a throat spray with 2% amethocaine. Patients who needed supplemental medication were given diazepam and excluded from final analysis. A graded questionnaire was recorded by endoscopists and patients after U.G.E., and a further anonymous questionnaire was returned by patients four days later. Statistical analysis revealed that phenoperidine was superior at facilitating intubation and providing more relaxation as judged by the endoscopist. Patient questionnaires, four days after U.G.E., indicated less distress during intubation and examination with phenoperidine. Nausea, vomiting, amnesia and phlebitis were uncommon after either phenoperidine or diazepam.

Clinical Trials as Topic↗

Doctors' perspectives of epilepsy.

This study reports the results of a questionnaire designed specifically to define doctors' perspectives of epilepsy. Sixty-two percent of the registered junior medical staff of a major Australian teaching hospital responded to a questionnaire that established information regarding doctor identification, cognition concerning epilepsy and its management, and doctors' attitudes. The results gave evidence of a lack of knowledge regarding epilepsy and its management, as well as a lack of ability to maintain critical evaluation of new material. Many of the negative attitudes about people with epilepsy that have been identified within the general community were also found within the medical profession. This study determined that there is a real need to reappraise the approach to teaching the medical profession about epilepsy.

Attitude of Health Personnel↗

Assessment of disability in multiple sclerosis a new approach to epidemiological study.

The Kurtzke system and overall disability scales (KS) for multiple sclerosis were adapted to questionnaire form (QKS). A qualified nurse recorded Kurtzke ratings, by QKS, from 36 multiple sclerosis patients and 11 healthy controls. These scores were compared with ratings obtained by a doctor with neurological training using the conventional history/examination technique. The results obtained by these 2 methods were closely comparable. The use of a questionnaire appears to be a valid and accurate approach to the determination of disability in multiple sclerosis and may be of particular value in epidemiology and therapeutic trials in this condition.

Disability Evaluation↗

Patient perspectives of epilepsy.

This paper reports the results of a pilot survey testing patient perspectives of epilepsy in 51 epileptic patients attending the neurology service of The Queen Elizabeth Hospital, Adelaide. The questionnaire used dealt specifically with patient identification, diagnostic information, management and attitudes. The information identifying the sample was compared with existing epidemiological data and shown to be representative of the epileptic population. The patients' views about their condition highlighted areas of concern both in their management and in their place in society.

Activities of Daily Living↗

Individualized patient assessment in the treatment of epilepsy with sodium valproate.

This study records a comprehensive clinical protocol developed to assess seizure control and unwanted effects in 19 patients treated with sodium valproate (VPA). The assessment is based on six parameters individually ranked: seizure frequency, seizure duration, EEG comparisons, intellectual and cognitive function tests, sociological profile, and unwanted effects. Each parameter was ranked from one to five, and the mean was used to assess the overall patient state. Using this technique, this study assesses the therapeutic efficacy of VPA and the benefits of individualization of therapy as predicted by the use of pharmacokinetic parameters in a controlled trial.

Adolescent↗

Adherence to antiretroviral therapy: are we doing enough?

Adherence to antiretroviral therapy is a powerful predictor of response to therapy. For optimal antiretroviral therapy response, individuals need to take more than 95% of their prescribed medication. The most widely used method for measuring adherence is self-report of the number of missed doses and this should be done at every clinic visit. There are several well-recognized predictors of poor adherence, such as illicit drug use, depression, limited knowledge or ambivalence about starting treatment. Adherence can be improved by addressing these issues or through other means such as pill boxes or electronic reminders.

Anti-HIV Agents↗