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Biomedical subjects

N Weinberg

Publications and source records attributed to N Weinberg.

At least 19 recordsLinked to original sources
PubMed2001

Using performance measures to identify plans of action to improve care.

BACKGROUND: Health care organizations dedicate enormous time and resources collecting data to measure the performance of physicians, hospitals, and other medical facilities. These measures may reflect outcomes, processes of care, patient perceptions of the quality of care, and resource utilization and cost. However, less thought is given to how the performance data should be used to improve care. The data must be translated into clinically relevant terms that assess the decisions of the clinical staff and the functioning of the systems that support the delivery of care. The processes of care are identified through record review, analysis of the system of care delivery, and patient interview, and are then further assessed to determine the underlying causes. EXAMPLES: Examples, drawn from case studies, are provided to illustrate how to identify and address components of care requiring improvement. DISCUSSION: Physician behavior is an important component of care in all performance measures. Modification of some patterns of behavior, including those of nursing and other support staff, may be needed to reduce some types of error. For this reason it is important to involve physicians in the process of discovering root causes. When the root cause involves the medical care system, an interdisciplinary approach will be needed. This may involve administrators, nurses, pharmacists, home care and discharge planners, and office personnel. One recommended approach to QI is to identify system errors and then design changes in the system to reduce that type of error. CONCLUSION: Performance measures must be translated into the components(s) of care that are implicated in the measure. Once this component has been identified as the reason behind the suboptimal measure, its root cause should be used to structure the most effective intervention.

Boston↗
PubMed1999

Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers.

OBJECTIVES: Carriers of the mutations 185delAG and 5382insC in the BRCA1 gene and 6174delT in the BRCA2 gene have a substantial life-time risk for breast and ovarian cancers (BC and OC). The aim of the study was to identify the clinical features and the hormonal risk modifiers in mutation carriers and the implication in suggested guidelines for treatment decisions in BRCA1/2 carrier patients. STUDY DESIGN: Breast and/or ovarian cancer patients from the Oncology and Cancer Genetic clinics were tested for the three Ashkenazi founder mutations: 87 patients were identified as carriers of one of these mutations. Clinical presentation and age at onset were correlated with the mutations, in patients with bilateral BC or BC and OC, the length of time that elapsed between the diagnosis of the two cancers was recorded. We compared BC and OC patients with regard to ages at menarche, first pregnancy and menopause, number of pregnancies and deliveries, the use of oral contraceptives, hormonal replacement therapy and fertility treatments. RESULTS: The carriers of the three BRCA1/2 Ashkenazi founder mutations did not differ in clinical presentation nor age at onset. Forty-three patients (74.1%) of 58 BC patients were diagnosed between the ages 30 and 50, only four (6.9%) patients were diagnosed after age 60. Of BC patients diagnosed before age 35, 63.6% developed second BC as compared to 25.5% of those diagnosed after age 35. Ovarian cancer was diagnosed after age 45 in 89.7% of the patients, only one patient was diagnosed under the age of 40. Oral contraceptives use was documented in 61.3% of BC patients as compared to 11.8% of OC patients. Other hormonal factors did not differ between the two groups. CONCLUSIONS: The carriers of the three Ashkenazi founder mutations should be considered at the same risk for BC and for OC and treatment options should be the same. Mutation carriers diagnosed with BC before the age of 35 are at a very high risk for developing second breast cancer. Most ovarian cancers in carriers were diagnosed after age 45, and prophylactic oophorectomy should be postponed to the age of 45. Oral contraceptives might elevate the risk of BC in mutation carriers.

Adult↗
PubMed1997

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.

Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder characterized by periodic, reversible attacks of muscle weakness. Mutations in the skeletal muscle dihydropyridine receptor alpha 1-subunit that functions as a calcium channel (CACNL1A3) cause hypoKPP. We studied a group of 45 hypoKPP probands and demonstrated mutations in 30 of them. When compared with patients in whom CACNL1A3 mutations were not identified, those with mutations had an earlier age of onset and more often had a family history of hypoKPP. To date, three mutations have been identified. The R1239G mutation has only been found in one family. Of the 30 probands with recognized mutations, R528H accounted for 43% and R1239H was seen in 53%. Age of onset and potassium levels during attacks were lower in patients with the R1239H mutation than those with R528H. Cardiac dysrhythmias co-segregated with hypoKPP in one small kindred with the R528H mutation. No mutations were identified in exons of the gene encoding the S4 segments of domains one and three or the cytoplasmic loop between domains two and three. In addition to the 45 hypoKPP probands, an additional 11 probands with clinical variants of hypoKPP (three thyrotoxic hypoKPP and eight Andersen syndrome patients) were examined for CACNL1A3 mutations and none were found.

Adolescent↗
PubMed1997

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

The mutations 185delAG, 188del11, and 5382insC in the BRCA1 gene and 6174delT in the BRCA2 gene were analyzed in 199 Ashkenazi and 44 non-Ashkenazi Jewish unrelated patients with breast and/or ovarian cancer. Of the Jewish Ashkenazi women with ovarian cancer, 62% (13/21) had one of the target mutations, as did 30% (13/43) of women with breast cancer alone diagnosed before the age 40 years and 10% (15/141) of those with breast cancer diagnosed after the age 40 years. Age at ovarian cancer diagnosis was not associated with carrier status. Of 99 Ashkenazi patients with no family history of breast and/or ovarian cancer, 10% carried one of the mutations; in two of them the mutation was proved to be paternally transmitted. One non-Ashkenazi Jewish ovarian cancer patient from Iraq carried the 185delAG mutation. Individual mutation frequencies among breast cancer Ashkenazi patients were 6.7% for 185delAG, 2.2% for 5382insC, and 4.5% for 6174delT, among ovarian cancer patients; 185delAG and 6174delT were about equally common (33% and 29%, respectively), but no ovarian cancer patient carried the 5382insC. More mutations responsible for inherited breast and ovarian cancer probably remain to be found in this population, since 79% of high-incidence breast cancer families and 35% of high-incidence breast/ovarian cancer families had none of the three known founder mutations.

Adult↗
PubMed1996

Online help: cancer patients participate in a computer-mediated support group.

This study investigated a computer mediated support group of six breast cancer patients. For a three-month period, patients used home computers to connect to a computer bulletin board on which they read messages from and posted messages to each other. The patients had no difficulty learning to use the computer and used it an average of one hour a week. The patients discussed their medical conditions, shared personal concerns, and offered support. This online approach provided many features of traditional face-to-face support groups.

Adult↗
PubMed1996

Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.

In the community of the Orthodox Jews most of the marriages are arranged a screening program that is aimed at preventing the marriage of two carriers of autosomal recessive disorders is conducted by the Dor Yesharim organization. A random sample of 6,076 individuals of the Orthodox Jewish Ashkenazi community, were screened for the five mutations common in Ashkenazi patients (delta F508, W1282X, G542X, N1303K, 3849 + 10Kb C-->T). Two hundred thirty-two carriers were identified, giving a heterozygote frequency of 1:26. The relative frequencies of the individual mutations in the general population were comparable to those in the patients.

Adolescent↗
PubMed1995

Does apologizing help? The role of self-blame and making amends in recovery from bereavement.

This article presents the results of an investigation into the relationship between attributions of self-blame for the death of a loved one and subsequent psychological recovery from this loss. Two hundred and forty-four people who had suffered the death of a loved one identified the emotional, cognitive, and behavioral responses they used at the time of their loss. Data indicated that use of self-blame was associated with poorer long-term adjustment. However, it was also found that self-blame often led people to make amends or reparations. Significantly, when self-blame was linked to making amends, it became correlated with favorable adjustment outcomes. The potential therapeutic value of reviewing the moral and spiritual beliefs of self-blaming clients and determining how, within their belief system, they might make amends is considered.

Adaptation, Psychological↗
PubMed1993

The role of XbaI polymorphism of the apolipoprotein B gene in determining levels and covariability of lipid and lipoprotein variables in a sample of Israeli offspring with family history of myocardial infarction.

We have determined the frequency of DNA polymorphism of the gene for human apolipoprotein B detected with XbaI in 525 Israeli offspring whose parents experienced a myocardial infarction. The relative frequencies of the X1 (8.6 kb) and X2 (5.0 kb) alleles were 0.67 and 0.33, respectively, with no significant differences between males and females and across the different origin groups. Significant variation in sex, age and body mass adjusted plasma levels of cholesterol (P = 0.02), LDL-C (P = 0.02) and apo B (P = 0.03) were associated with the XbaI polymorphism. An interaction with age was demonstrated. For young individuals a simple codominant association of the XbaI site with cholesterol and LDL-C was evident and the differences between the two homozygote groups ranged between 22 and 25 mg/dl. For individuals above age 25 these differences were about 12 mg/dl with no significant difference between the X1X2 and the X2X2 genotype groups. In our study sample the apo B XbaI polymorphism accounted for 1% of the variability of plasma cholesterol, LDL-C and apo B levels. The XbaI polymorphism also had an effect on the associations among lipid and lipoprotein variables. In conclusion, we have demonstrated an association of the apo B XbaI polymorphism with the metabolism of the apo B-containing lipoprotein particles in a sample of Israeli offspring with a family history of myocardial infarction.

Adult↗
PubMed1985

The health care social worker's role in facilitating grief work: an empirical study.

In this research, 155 people who had recently experienced the loss of someone they cared about rated the extent to which different social work activities would or would not have been helpful to them at the time of their loss. Discussion of the data focuses on how social workers in a health setting can assist individuals who are grieving.

Adolescent↗
PubMed1983

Burn care: a social work perspective.

The psychosocial problems of people who have been severely burned are many and severe. Written according to the outline followed by the articles in Health and Social Work's November 1981 Supplement on Specialization and Specialty Interests, this article describes the complexities of burn treatment and the key role of the social worker in burn care.

Aged↗