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Biomedical subjects

E Jack

Publications and source records attributed to E Jack.

15 recordsLinked to original sources
PubMed2003

Validation of a pre-anaesthetic screening questionnaire.

We developed a screening questionnaire to be used by nurses to decide which patients should see an anaesthetist for further evaluation before the day of surgery. Our objective was to measure the accuracy of responses to the questionnaire. Agreement between questionnaire responses and the anaesthetist's assessment was assessed. For questions with a prevalence of 5 to 95%, the Kappa coefficient was used; percentage agreement was used for all other questions. Criterion validity was excellent/good for all questions with a prevalence between 5 and 95%, except for the question 'Do you have kidney disease?' For questions with prevalence < 5%, all demonstrated adequate criterion validity except the questions 'Has anyone in your family had a problem following an anaesthetic?' and 'If you have been put to sleep for an operation were there any anaesthetic problems?' Therefore, it is reasonable for nurses to use this questionnaire to determine which patients an anaesthetist should see before the day of surgery.

Adolescent↗
PubMed2002

Risk factors for ovarian cancer and early-onset breast cancer in Mongolia.

OBJECTIVE: To determine if there are founder BRCA1 mutations in the Mongolian population. METHODS: Seventeen women with ovarian cancer, 14 women with premenopausal breast cancer and one woman with both cancer types were interviewed to obtain family history, and hormonal, reproductive and environment risk factor information. Blood was collected for DNA analysis from these women to determine the frequency of BRCA1 and BRCA2 mutations in Mongolia. RESULTS: Two patients had two first-degree relatives with cancer and nine women had one first degree relative with cancer. Two women had the unique BRCA1 mutation previously described. These two women were not related but their parents were from the same tribe and they lived in the same imak (province). Only one other patient was of this tribal background and from the same region; however, she did not have the BRCA1 mutation. CONCLUSION: A substantial proportion of Mongolian woman with ovarian cancer or early-onset breast cancer may be due to a founder BRCA1 mutation 3452delA.

Adult↗
PubMed2001

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in Ontario, Canada, during 1995-96 was screened for germline mutations in BRCA1 and BRCA2. We specifically tested for 11 of the most commonly reported mutations in the two genes. Then, cases were assessed with the protein-truncation test (PTT) for exon 11 of BRCA1, with denaturing gradient gel electrophoresis for the remainder of BRCA1, and with PTT for exons 10 and 11 of BRCA2. No mutations were found in all 134 women with tumors of borderline histology. Among the 515 women with invasive cancers, we identified 60 mutations, 39 in BRCA1 and 21 in BRCA2. The total mutation frequency among women with invasive cancers, 11.7% (95% confidence interval [95%CI] 9.2%-14.8%), is higher than previous estimates. Hereditary ovarian cancers diagnosed at age <50 years were mostly (83%) due to BRCA1, whereas the majority (60%) of those diagnosed at age >60 years were due to BRCA2. Mutations were found in 19% of women reporting first-degree relatives with breast or ovarian cancer and in 6.5% of women with no affected first-degree relatives. Risks of ovarian, breast, and stomach cancers and leukemias/lymphomas were increased nine-, five-, six- and threefold, respectively, among first-degree relatives of cases carrying BRCA1 mutations, compared with relatives of noncarriers, and risk of colorectal cancer was increased threefold for relatives of cases carrying BRCA2 mutations. For carriers of BRCA1 mutations, the estimated penetrance by age 80 years was 36% for ovarian cancer and 68% for breast cancer. In breast-cancer risk for first-degree relatives, there was a strong trend according to mutation location along the coding sequence of BRCA1, with little evidence of increased risk for mutations in the 5' fifth, but 8.8-fold increased risk for mutations in the 3' fifth (95%CI 3.6-22.0), corresponding to a carrier penetrance of essentially 100%. Ovarian, colorectal, stomach, pancreatic, and prostate cancer occurred among first-degree relatives of carriers of BRCA2 mutations only when mutations were in the ovarian cancer-cluster region (OCCR) of exon 11, whereas an excess of breast cancer was seen when mutations were outside the OCCR. For cancers of all sites combined, the estimated penetrance of BRCA2 mutations was greater for males than for females, 53% versus 38%. Past studies may have underestimated the contribution of BRCA2 to ovarian cancer, because mutations in this gene cause predominantly late-onset cancer, and previous work has focused more on early-onset disease. If confirmed in future studies, the trend in breast-cancer penetrance, according to mutation location along the BRCA1 coding sequence, may have significant impact on treatment decisions for carriers of BRCA1-mutations. As well, BRCA2 mutations may prove to be a greater cause of cancer in male carriers than previously has been thought.

BRCA2 Protein↗
PubMed2000

An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2.

Currently many centers offer testing for three specific mutations, 185delAG, 5382insC, and 6174delT, in the BRCA1 and BRCA2 genes to Ashkenazi Jewish individuals at high risk for breast and ovarian cancer. We recently tested members of a family with multiple cases of breast and ovarian cancer (Family R014). The proband in this family tested positive for the 185delAG mutation. The unaffected sister of the proband tested positive for both the 185delAG and the 6174delT mutations. Further testing and review of the family history suggest that both mutations may have come from a maternal grandfather and passed down for two generations. Counseling of the unaffected double heterozygote individual in this family is complicated by lack of information on the risk of breast, ovarian, and other cancers in such individuals. A better understanding of these risks will depend on the identification and study of more individuals carrying mutations in both the BRCA1 and BRCA2 genes. Our study emphasizes the importance of testing Ashkenazi Jewish individuals from high-risk breast and ovarian cancer families for all three common BRCA1 and BRCA2 mutations identified in this ethnic group.

Adult↗
PubMed1998

Surveillance for asthma--United States, 1960-1995.

PROBLEM/CONDITION: Asthma is one of the most common chronic diseases in the United States, and it has increased in importance during the preceding 20 years. Despite its importance, no comprehensive surveillance system has been established that measures asthma trends at the state or local level. REPORTING PERIOD: This report summarizes and reviews national data for specific end-points: self-reported asthma prevalence (1980-1994), asthma office visits (1975-1995), asthma emergency room visits (1992-1995), asthma hospitalizations (1979-1994), and asthma deaths (1960-1995). DESCRIPTION OF SYSTEM: The National Center for Health Statistics (NCHS) annually conducts the National Health Interview Survey, which asks about self-reported asthma in a subset of the sample. NCHS collects physician office visit data with the National Ambulatory Medical Care Survey, emergency room visit data with the National Hospital Ambulatory Medical Care Survey, and hospitalization data with the National Hospital Discharge Survey. NCHS also collects mortality data annually from each state and produces computerized files from these data. We used these datasets to determine self-reported asthma prevalence, asthma office visits, asthma emergency room visits, asthma hospitalizations, and asthma deaths nationwide and in four geographic regions of the United States (i.e., Northeast, Midwest, South, and West). RESULTS: We found an increase in self-reported asthma prevalence rates and asthma death rates in recent years both nationally and regionally. Asthma hospitalization rates have increased in some regions and decreased in others. At the state level, only death data are available for asthma; death rates varied substantially among states within the same region. INTERPRETATION: Both asthma prevalence rates and asthma death rates are increasing nationally. Available surveillance information are inadequate for fully assessing asthma trends at the state or local level. Implementation of better state and local surveillance can increase understanding of this disease and contribute to more effective treatment and prevention strategies.

Adolescent↗
PubMed1994

Rodent insulin receptors are immunologically different from other mammalian insulin receptors.

Four monoclonal antibodies (MA-5, MA-10, MA-20, and MA-51) and one polyclonal antibody (ARS-2) against human insulin receptor were used to immunoprecipitate the insulin receptor from several species which had been photolabeled with N epsilon B29-monoazido-benzoyl-[125I]iodoinsulin. All four monoclonal antibodies immunoprecipitated human insulin receptor from human placental membranes. MA-10 and MA-51, but not MA-5 or MA-20, immunoprecipitated insulin receptors from liver plasma membranes of rabbit, guinea pig, dog, cattle, pig, and chicken. None of the monoclonal antibodies immunoprecipitated insulin receptors of rat, mouse, hamster, or chinchilla. In contrast, all of the insulin receptors were immunoprecipitated by the polyclonal anti-insulin receptor antibody, ARS-2. MA-10 and MA-51 compared with [125I]iodoinsulin for binding to guinea pig and rabbit liver plasma membranes in a fashion similar to insulin, although less effectively. MA-51 also mimicked the action of insulin by stimulating lipogenesis and autophosphorylation of the insulin receptor beta subunit in isolated rabbit adipocytes. The results suggest that insulin receptors of mammals, other than rodent, share with human insulin receptor the same epitope(s) recognized by MA-10 and MA-51. Rodent insulin receptors, with the exception of guinea pig, are different. We speculate that the difference lies in the amino acid sequence 485-599 of the alpha subunit of the insulin receptor.

Adipose Tissue↗
PubMed1992

Insulin receptors are bivalent as demonstrated by photoaffinity labeling.

Insulin receptors in human placental membranes were photoaffinity-labeled with a radioactive human insulin-like growth factor I (hIGF-I) photoprobe N epsilon B28-monoazidobenzoyl 125I-hIGF-I either alone or together with a non-radioactive insulin photoprobe N epsilon B29-monoazidobenzoyl insulin. Precipitation of the solubilized receptors with anti-insulin antibody showed that receptors labeled with the radioactive hIGF-I photoprobe were detected in the immunoprecipitate only when photolabeling was carried out in the presence of the non-radioactive insulin photoprobe. Comparable results were obtained in converse experiments using a radioactive insulin photoprobe N epsilon B29-monoazidobenzoyl 125I-insulin, a non-radioactive hIGF-I photoprobe N epsilon B28-monoazidobenzoyl hIGF-I, and an antibody to hIGF-I. The amount of radioactive receptors precipitated by either the anti-insulin antibody or the anti-hIGHF-I antibody was close to the expected amount. These observations demonstrate that the insulin receptor is bivalent being capable of binding two molecules of ligand.

Affinity Labels↗
PubMed1991

The drug treatment of panic disorder.

Reviews current information about panic disorder that establishes its prevalence, heritable nature, course and complications. With this brief introduction, develops a general strategy for the management of panic disorder that entails careful diagnostic assessment, recognition of the risk of complications (i.e. major depression, phobic avoidance, substance abuse), education, supportive psychotherapy and the use of medication in the acute control of symptoms and the long term management of the vulnerability to panic attacks.

Adolescent↗
PubMed1990

Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

We report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome" with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to demonstrate deletion in the ring 5. Flow karyotype using the FACS cell sorter and peak area analysis showed the r(5) to be in the same position as the normal chromosome 5. The deletion that is presumably associated with ring formation appears to involve less that one megabase of DNA. In the "complex" rings, high resolution SEM showed fragile sites at the 5q34 and 5q35 region with frequent deletions at that site. A literature survey suggests that when a parent carries a ring chromosome about 80% of recognised pregnancies result in live birth. Of these, about half have a normal phenotype and karyotype, and half inherit the parental ring; about half of those acquiring the ring (20%) show significant mental retardation.

Adult↗
PubMed1984

Weight control in adolescent girls: a comparison of the effectiveness of three approaches to follow-up.

The purpose of the project was to compare the effectiveness of three different types of follow-up of a weight control program in assisting adolescent girls to achieve and maintain ideal body weight. During the initial phase of the weight control program, subjects attended two sessions of approximately one hour each for eight weeks. One session each week included theory and practice of physical exercise. The other session was devoted to behavioral control of eating and diet therapy. After eight weeks, 18 subjects were divided randomly into three groups for follow-up: Group 1--monthly measurements and reinforcement of behavioral, diet, and exercise components of the weight control program; Group 2--monthly measurements; and Group 3--annual measurements. Fifteen subjects completed the 12-month follow-up program. Mean weight loss during follow-up of Group 1 was 3.65 kg, Group 2 was 1.90 kg, while Group 3 had a mean weight gain of 3.44 kg. The results suggest that regular follow-up may be a critical element in successful weight control programs for adolescent girls.

Adolescent↗
PubMed1977

An age-related attentuation of selectivity of choice in a modified guessing task.

Previous research has shown that older Ss tend to be less selective in multi-source monitoring tasks in that they do not observe the more likely source of information as frequently as do the young. On the other hand, it has also been found that in a simple guessing-game or probability matching task older Ss are no different in their patterns of prediction. An experiment is described below in which old and young Ss take part in a simple quessing-game task where uncertainty as to the success of a guess is made artificially high by the introduction of a proportion of trials on which the stimulus event occurring could not be guessed. Under these conditions old Ss were less selective in their responses. It is suggested that the results support a view that older Ss are less selective at high levels of uncertainty in the likelihood of a guess being the correct one, and that the result is consistent with both types of earlier results, goes part-way towards clarifying the differences, and provides a further example of a situation in which attenuated guessing-selectivity is associated with age.

Adult↗
PubMedDate not supplied

A unique BRCA1 mutation identified in Mongolia.

This is a case report of genetic assessment conducted on a family residing in the third world where two sisters have presented with early onset ovarian cancer. Protein truncation testing and DNA sequencing identified a unique mutation on exon 11 (3452delA) of the BRCA1 gene. Buccal swab testing of three siblings and three offspring showed that half of the family members carried the same mutation. Currently, genetic testing in third-world countries is conducted within research budgets, as testing is not affordable or locally available for such high-risk families. Unique mutations in the BRCA1 gene that are expressed in geographically isolated groups will be useful in genetic counseling and preventative maneuvers. The only preventive management strategy available in the third world is prophylactic surgery.

Adenocarcinoma↗