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Biomedical subjects

J R Gilbert

Publications and source records attributed to J R Gilbert.

At least 73 records · Page 4Linked to original sources
PubMed1994

Is there gender bias in JAMA's peer review process?

OBJECTIVE: To assess whether manuscripts received by JAMA in 1991 possessed differing peer review and manuscript processing characteristics, or had a variable chance of acceptance, associated with the gender of the participants in the peer review process. DESIGN: Retrospective cohort study of 1851 research articles. SETTING: JAMA editorial office. PARTICIPANTS: Eight male and five female JAMA editors, 2452 male and 930 female reviewers, and 1698 male and 462 female authors. MAIN OUTCOME MEASURE: Statistically significant gender bias. RESULTS: Female editors were assigned manuscripts from female corresponding authors more often than were male editors (P < .001). Female editors used more reviewers per manuscript if sent for other review. Male reviewers assisted male editors more often than female editors, and male reviewers took longer to return manuscripts than did their female counterparts (median, 25 vs 22 days). Content reviewer recommendations were independent of corresponding author and review gender, while male statistical reviewers recommended the highest and lowest categories more frequently than did female statistical reviewers (P < .001). Manuscripts handled by female editors were rejected summarily at higher rates (P < .001). Articles submitted to JAMA in 1991 were not accepted at significantly different rates based on the gender of the corresponding author or the assigned editor (P < .4). CONCLUSIONS: Gender differences exist in editor and reviewer characteristics at JAMA with no apparent effect on the final outcome of the peer review process or acceptance for publication.

American Medical Association↗
PubMed1994

A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene.

A human muscle cDNA library was screened for slow skeletal troponin T (TnTs). Sequence analysis revealed that one of the selected clones had a cDNA coding sequence different from the two previously described. RNase protection assays confirmed the expression of this new isoform in adult skeletal muscle. In addition, results of the RNase protection assays strongly suggested the expression of a fourth isoform. These isoforms for human slow TnT most likely result from combinatorial alternative splicing of a single gene.

Adult↗
PubMed1994

Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype.

A genetic classification of Alzheimer disease(s) (AD) is presented. We describe a potential metabolic process in individuals who inherit apolipoprotein E-epsilon 4 (APOE4, gene; apoE4, protein) alleles, leading to increased risk and earlier age of onset of late-onset Alzheimer disease. Apolipoprotein E-epsilon 3 (apoE3) binds to tau protein, possibly slowing the initial rate of tau phosphorylation and self-assembly into paired helical filaments (PHFs); apoE4 does not bind tau. Tau promotes microtubule assembly and stabilizes microtubules; hyperphosphorylated tau does not bind, thereby destabilizing microtubules. Hyperphosphorylated tau may self-assemble into PHFs. Over time a bias toward destabilization of microtubules and the formation of neurofibrillary tangles may occur in individuals who inherit APOE4 alleles, leading to a shorter functional neuronal life span. This hypothesis focuses attention on two important aspects of AD research design: (1) Although the inheritance of APOE4 is associated with increased risk and decreased age of onset, apoE4 does not directly cause the disease. Our data point to the absence of an important function of apoE3 or apoE2 in individuals who do not inherit these alleles as the genetically relevant metabolic factor. This has important implications for design of experiments directed toward understanding the relevant neuronal metabolism. (2) Should this hypothesis be proven and confirmed, targets for pharmaceutical therapy designed to mimic the metabolic function of apoE3 or apoE2 become a realistic preventive strategy.

Alzheimer Disease↗
PubMed1994

Sequential changes in vital signs and acid-base and blood-gas profiles in Pneumocystis carinii pneumonitis in children with cancer. Basis for a scoring system to identify patients who will require ventilatory support.

Early reliable identification of patients with Pneumocystis carinii pneumonia (PCP) who will require ventilatory support would be desirable. To develop a predictive system to meet this need, we studied, prospectively, the sequential alterations in vital signs and acid-base and blood-gas profiles associated with this disease in 55 children with cancer, 29 of whom did not require ventilatory support (Group I) and 26 who did (Group II). None of the patients had acquired immunodeficiency syndrome (AIDS). On admission to the hospital the only feature that distinguished patients in Group I from those in Group II was the mean (+/- SD) respiratory rate (38.7 +/- 2.1 versus 49.1 +/- 3.5 breaths/min, p < 0.02). By 12 h after admission there was a significant difference in the partial pressure of oxygen (PaO2) between Groups I and II (75.1 +/- 3.2 mg Hg versus 65.4 +/- 3.1 mm Hg, p < 0.05), and also in the two groups' inspired fraction of oxygen (FIO2; 24.9 +/- 0.54% versus 29.6 +/- 1.6%, p < 0.01). Both alterations, as well as tachypnea, persisted for the remainder of the study period. The maximum FIO2 did not exceed 45% in Group I, and by 60 h after admission to the hospital, all patients in this group had persistent increases in PaO2 that exceeded 80 mm Hg, permitting decreases in FIO2 to that of room air. In Group II, hypoxemia was refractory despite an increase in FIO2 to 50%, at which point ventilatory support was begun (at a mean of 81.1 +/- 32.3 h after admission).(ABSTRACT TRUNCATED AT 250 WORDS)

Acid-Base Equilibrium↗
PubMed1993

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive primary disease of muscle which is usually inherited as an autosomal dominant disorder. FSHD has been localized to the long arm of chromosome 4, specifically to the 4q3.5-qter region. Initially published linkage studies showed no evidence for heterogeneity in FSHD. In the present study we have examined individuals in seven FSHD families. Two-point lod scores show significant evidence for linkage for D4S163 (lod score 3.04 at recombination fraction .21) and D4S139 (lod score 3.84 at recombination fraction .20). D4S171 also gave a positive score (lod score 2.56 at recombination fraction .24). Significant evidence for heterogeneity was found for each of the three markers. Multipoint linkage analysis in this region resulted in a peak multipoint lod score of 6.47. The multipoint analysis supported the two-point studies with odds of 20:1 showing linkage and heterogeneity over linkage and homogeneity. Five of the seven families gave a posterior probability of > 95% of being of the linked type, while two families appeared unlinked to this region of 4q (P < .01%). Individuals in the two unlinked families met the clinical criteria for the diagnosis of FSHD, including facial weakness, clavicular flattening, scapula winging, proximal muscle weakness, and myopathic changes on muscle biopsies without inflammatory or mitochondrial pathology. This study demonstrates genetic heterogeneity in FSHD and has important implications for both genetic counseling and the elucidation of the etiology of FSHD.

Chi-Square Distribution↗
PubMed1992

Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).

Facioscapulohumeral muscular dystrophy (FSHD) has been localized to the 4q35-qter region of chromosome 4. Linkage analyses of two polymorphic markers from the region, D4S139 and D4S163, have been carried out using four large multigenerational FSHD families. The results indicate that both markers are closely linked to FSHD, with D4S139 being the closest proximal marker to FSHD.

Chromosome Mapping↗
PubMed1991

Economic evaluation of a support program for caregivers of demented elderly.

An economic evaluation was undertaken concurrently with a randomized trial comparing a Caregiver Support Program (CSP) with existing conventional community nursing care for those caring for elderly relatives at home. The differences in resource consumption were compared with changes in caregiver quality of life, as measured by the Caregiver Quality of Life Instrument (CQLI). A 20% difference from baseline in the CQLI favored the experimental (CSP) group, although this did not reach conventional levels of statistical significance. A comparison of improvement in quality of life with costs implies an incremental cost per quality-adjusted life year gained of Canadian $20,000 for the CSP, which compares favorably with other health care interventions. Further, larger studies are required to confirm this result.

Aged↗
PubMed1990

Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA.

Subtraction hybridization techniques were used to isolate 91 cDNA clones which are overexpressed in normal control skeletal muscle relative to muscle from patients with myotonic muscular dystrophy. The gene responsible for myotonic dystrophy (DM) has been localized to the 19q13.2-13.3 region of chromosome 19. To test as a candidate gene for DM, clones which represent differences in transcription are analyzed for localization to chromosome 19. One clone, designated MSL 366, was found to be on the long arm of chromosome 19 distal to the CKMM gene at 19q13.2. Sequence analysis confirmed that MSL 366 is the cDNA for human slow skeletal muscle troponin T. A genomic clone has been isolated and linkage studies with DM are in progress.

Base Sequence↗
PubMed1990

A randomized trial of family caregiver support in the home management of dementia.

A randomized trial of family caregiver support for the home management of older people suffering from moderate to severe progressive irreversible dementia was conducted in an urban center in southern Ontario. Thirty caregivers were allocated to receive the experimental intervention consisting of: caregiver-focused health care, education about dementia and caregiving, assistance with problem solving, regularly scheduled in-home respite, and a self-help family caregiver support group. Thirty control subjects received conventional community nursing care. Before completion of the intervention, 18 (30%) were withdrawn, almost equally from each group. The most frequent reason was long-term institutionalization of the demented relative (n = 10). At baseline, caregivers in both groups were suffering from above-average levels of depression and anxiety. After the six-month intervention period, we found neither experimental nor control group improved in these areas. However, the experimental group showed a clinically important improvement in quality of life, experienced a slightly longer mean time to long-term institutionalization, found the caregiver role less problematic, and had greater satisfaction with nursing care than the control group.

Aged↗
PubMed1989

A survey of current prescribing practices of anti-inflammatory and urate-lowering drugs in gouty arthritis in New South Wales and Queensland.

We recently have conducted a cross-sectional survey to determine the prescribing practices of rheumatologists and a random sample of general practitioners in New South Wales and Queensland. While in general there was agreement as to the preferred management of gout, several important differences were noted between the two groups of doctors. In particular, general practitioners were more liberal than were rheumatologists in their use of allopurinol. However, they were less likely to cover the introduction of allopurinol with anti-inflammatory agents, to titrate the dose against the serum uric acid level or to adjust the dose according to the serum creatinine level. A small number of doctors continued to use urate-lowering drugs as a routine in the treatment of entirely asymptomatic hyperuricaemia. The data indicate a continuing need to disseminate information regarding the preferred management of hyperuricaemic states.

Allopurinol↗
PubMed1989

Smoking cessation in primary care. A randomized controlled trial of nicotine-bearing chewing gum.

The results are reported from a multicentered, randomized clinical trial of a physician-delivered smoking cessation intervention package. All physicians attended a four-hour training session during which the rationales for the different aspects of the intervention were discussed, including a detailed description of the proper use of nicotine-bearing chewing gum. Patients were randomized to receive an offer of a prescription of 2 mg of nicotine chewing gum in addition to the basic intervention (n = 111) or the basic intervention alone (n = 112). The basic intervention included advice, setting a date for quitting, self-help materials, and the offer of supportive follow-up visits. Receptionists were instructed to recruit the first two smokers attending the practice each day. One-year smoking cessation was validated by cotinine saliva analysis. The validated three-month sustained abstinence rates at one year were 8.1 percent and 9.8 percent in the gum and no-gum groups, respectively. The 95 percent confidence interval about this difference was -9.3 percent to 6.4 percent. There is no evidence from this study that the offer of 2 mg of nicotine-bearing gum enhances smoking cessation rates when added to a comprehensive intervention offered to all smokers in primary care. Until larger trials are completed, however, the possibility that this dose of nicotine gum may produce small beneficial effects cannot be excluded.

Chewing Gum↗
PubMed1988

A randomized trial of a family physician intervention for smoking cessation.

We assessed the impact of three conditions on one-year smoking cessation rates. Physicians in 70 community general practices were randomly allocated by practice to one of three groups: In the usual care group, smoking patients were to receive the care they normally would receive. In the gum only group, physicians were asked to speak to patients about smoking cessation and offer nicotine gum. In the gum plus group, physicians were trained in the experimental intervention. This intervention involved advice to stop smoking, the setting of a quit date, the offer of nicotine gum, and four follow-up visits. Smoking cessation was measured by self-report after one year and validated using saliva cotinine measures. Using a criterion of at least three months of abstinence, 8.8% of the patients of the trained physicians had stopped smoking at the one-year follow-up compared with 4.4% and 6.1% of the patients in the usual care and gum only groups, respectively.

Adolescent↗
PubMed1988

Cellular localization of messenger RNA encoding amyloid-beta-protein in normal tissue and in Alzheimer disease.

Amyloid precursor protein (APP) gene encodes the short peptide fragment amyloid-beta-protein present in senile plaque cores, cerebrovascular amyloid, and intracellular neurofibrillary tangles in Alzheimer disease (AD). Using in situ hybridization with biotin-labeled RNA probes, we found distinctive patterns of APP gene expression in different regions of postmortem human brain. Strong hybridization signal for APP messenger RNA (mRNA) was detected in specific classes of neurons, fascicular oligodendroglia, satellite glia, and presumptive microglia. Weaker signal was seen in other neuronal classes, fascicular astrocytes, and vascular endothelial cells, but no signal was seen in protoplasmic astrocytes. Human thymus also shows a restricted pattern of hybridization with high signal in reticular epithelial cells, and much lower signal in lymphocytes. In AD patients, neuronal hybridization for APP mRNA was specifically increased in hippocampus, but not cerebellar and visual cortex when compared to hybridization for neuron-specific enolase mRNA. Most neurons with neurofibrillary tangles had strong APP mRNA signal. These results suggest that APP gene expression is highly regulated in normal tissue, that many different cell classes in brain express the APP gene, and that neuronal expression may increase specifically in brain regions where widespread injury occurs in AD. Amyloid deposits in brains of AD patients might be explained by local production of precursor protein in endothelial cells, neurons or glia.

Aged↗
PubMed1988

Myotonic dystrophy: update on progress to define the gene.

Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restriction fragment length polymorphisms which were developed in the laboratory from flow-sorted chromosome 19 genomic libraries. In over 500 family members from five families only a single cross-over with ApoC2 was detected. Thus a useful probe for antenatal and preclinical diagnosis is now available. Details of the strategy employed within the framework of clinical diagnosis, genetic epidemiology and recombinant DNA techniques is described.

Child↗