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Biomedical subjects

C Connolly

Publications and source records attributed to C Connolly.

70 records · Page 4Linked to original sources
PubMed1996

Genetic counseling in hereditary nonpolyposis colorectal cancer: an extended family with MSH2 mutation.

OBJECTIVES: Molecular genetic advances have increased the demand for DNA testing. We describe DNA based genetic counseling in a hereditary nonpolyposis colorectal cancer (HNPCC) family. METHODS: This extended HNPCC family was found to harbor the MSH2 germline mutation. Family history, medical, and pathology documents enabled us to secure a high degree of verification that the kindred qualified as HNPCC. DNA testing revealed the MSH2 germline mutation that was verified independently in two laboratories. Genetic counseling was provided before DNA testing and disclosure of MSH2 findings. RESULTS: Genetic counseling revealed a variety of findings characterized by emotional stress in MSH2 germline mutation carriers. Concerns centered around reproductive issues, potential transmission of the deleterious gene to their progeny, and discrimination by insurance carriers and employers. More than one-half of the patients found to harbor the MSH2 mutation considered the option of prophylactic subtotal colectomy. CONCLUSION: DNA testing should be restricted to well-verified candidate families in which genetic counseling should be mandatory. HNPCC family members sought genetic risk assessment for their own health and that of their children. Contrasting emotional responses took place when told of their gene testing status and this required a sensitive empathetic listening ear. Patients have many concerns about their lifetime cancer destiny when told that they harbor the culprit MSH2 germline mutation.

Adult↗
PubMed1995

Psychosocial predictors of hypertension in black and white Africans.

OBJECTIVE: To test the hypothesis that psychosocial factors that are closely related to the behavioural stress process in developing countries have predictive value for the incidence of hypertension. DESIGN: A cohort of 528 African students (220 White, 308 Black), mean +/- SD age 22 +/- 3.2 years, were followed up for 4 years at the University of Zimbabwe. Baseline measures of selected psychosocial variables such as anxiety, anger, expression, active coping and family instability were made, together with biological and behavioural predictors of hypertension (initial blood pressure, heart rate, body mass, family history of hypertension or diabetes, alcohol intake, smoking and number of years of urbanization). Analyses were stratified by sex and ethnicity. RESULTS: In multivariate analysis Black students had significantly greater baseline anxiety levels and suppressed anger than White students, and Black students who went on to develop hypertension had significantly higher baseline parameters than those who remained normotensive. In multivariate regression analysis, including biological predictors, anxiety, suppressed anger and family instability remained significant independent predictors of hypertension in urbanized Black students. No psychosocial variable alone predicted hypertension in White students in multivariate analyses. CONCLUSIONS: Among young, urbanized Black students, besides the well-known genetic (family history of hypertension) and biological (initial blood pressure, heart rate, body mass index, smoking and alcohol intake) predictors of hypertension, psychosocial factors are predictive of the later incidence of hypertension. Behavioural non-pharmacological treatment for hypertension might be considered in African developing countries.

Adult↗
PubMed1995

Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.

Usher syndrome type II is associated with hearing loss and retinitis pigmentosa but not with any vestibular problems. It is known to be genetically heterogeneous, and one locus (termed USH2A) has been linked to chromosome 1q41. In an effort to refine the localization of USH2A, the genetic map of the region between and adjacent to the marker loci previously recognized as flanking USH2A (D1S70 and PPOL) is updated. Analysis of marker data on 68 Usher II families places the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor beta 2 (TGFB2) and the gene for the homeodomain box (HLX1) are both eliminated as candidates for USH2A, by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in six new families, and the proportion of unlinked Usher II families is estimated at 12.5%. The placement of the USH2A gene into this region will aid in the physical mapping and isolation of the gene itself.

Chromosome Mapping↗
PubMed1993

Nonpeptide angiotensin II receptor antagonists. 2. Design, synthesis, and structure-activity relationships of 2-alkyl-4-(1H-pyrrol-1-yl)-1H-imidazole derivatives: profile of 2-propyl-1-[[2'-(1H-tetrazol-5-yl)-[1,1' -biphenyl]-4-yl]-methyl]-4-[2-(trifluoroacetyl)-1H-pyrrol-1-yl]-1H- imidazole-5-carboxylic acid (CI-996).

A novel series of nonpeptide angiotensin II (AII) receptor antagonists containing a 1H-pyrrol-1-yl moiety at the 4-position of the imidazole have been developed. The pyrrole group occupies the same lipophilic pocket at the receptor as the chloro group in DuP 753 (68) and EXP 3174 (69) and the pentafluoro group in DuP 532 (70), respectively. The impetus for its selection came from bioisosteric considerations based on hydrophobic and electronic substituent constants. An extensive study of the structure-activity relationships revealed several highly potent AII receptor antagonists. An acyl substitution at the 2-position of the pyrrole ring improved activity, most notably in the in vivo rat model. In addition, the 2-substituted pyrrole compounds improved chemical stability toward extremely facile decarboxylation reaction associated with unsubstituted pyrrole analogues, thus facilitating development of these agents. The IC50's of 18, 20, and 42 (< 1 nM) were better than the reference compounds 69 and 70, respectively. These compounds were selective AII antagonists that compete at the AT1 receptor and showed no affinity at the AT2 receptor at concentrations up to 10 microM. Upon intravenous administration in a normotensive rat model, compound 18 inhibited the AII-induced responses with ED50 of 6 micrograms/kg per min. In a renal hypertensive rat model, the antihypertensive potency of compound 18, at a dose of 10 mg/kg, was very similar to those 68 and 69, respectively. Compound 18 demonstrated a dose-related (3-30 mg/kg) decrease in blood pressure that was sustained for greater than 24 h. On the basis of its profile, compound 18, designated as CI-996, has been selected for in-depth studies. The design, synthesis, in vitro, and in vivo structure-activity relationships are described.

Angiotensin Receptor Antagonists↗
PubMed1990

Eating disorders: a framework for school nursing initiatives.

Anorexia nervosa and bulimia nervosa are complex illnesses identified with increased frequency among adolescents, particularly adolescent females. Eating disorders can have serious health consequences and school nurses can play an important role in primary, secondary, and tertiary prevention. An overview of eating disorders within a theoretical framework for school nursing practice is presented, and a case management role within an educational setting is proposed for school nurses. Etiology, classification, and signs and symptoms are highlighted for application in schools. Recommendations are made for curriculum planning and involvement of other school professionals. Treatment for eating disorders is most successful when initiated early in the illness. Schools provide a natural forum to reach adolescents, and school nurses, with their biopsychosocial emphasis, are uniquely prepared to address these disorders.

Adolescent↗
PubMedDate not supplied

A pediatric rehabilitation experience for undergraduate nursing students.

Pediatric rehabilitation is a specialty that will need more nurses in the future. A clinical rotation in this specialty was incorporated into the pediatric experience of junior-year baccalaureate nursing students at the University of Maryland School of Nursing. The experience helped students to learn more about the nursing care involved in pediatric rehabilitation, to appreciate the different disciplines within the specialty, and to view pediatric nursing from a holistic long-range perspective. The experience also strengthened ties between nursing education and practice.

Curriculum↗
PubMedDate not supplied

Directly observed therapy for tuberculosis given twice weekly in the workplace in urban South Africa.

Effective models of delivery of directly observed therapy (DOT) for tuberculosis in resource-poor settings are needed. Intermittent chemotherapy may be an important component of DOT delivered in the community as it means fewer visits to supervisors. There is no published evidence on the efficacy of twice weekly therapy given from the start of treatment without an intensive daily phase. We analysed data from 3 large cohort studies in a migrant, urban workforce in South Africa between 1975 and 1983. All patients received 4 drugs (isoniazid, rifampicin, pyrazinamide and streptomycin) twice weekly under direct observation by a nurse in the workplace. Of 444 patients, 378 (85.1%) completed treatment. Cure could be assessed in 362, and 348 (96.1%, 95% confidence interval 93.7-97.8%) were bacteriologically cured. Sputum status was assessed at 2-3 months in 343 patients and 309 (90.1%) were sputum negative. Eighteen patients relapsed (5.7%; 2.9/100 patient-years of observation). DOT can be effectively delivered to a migrant, urban workforce, and 4-drug therapy given twice weekly under direct observation is efficacious.

Adult↗
PubMedDate not supplied

The aetiology of sport injuries. A review of methodologies.

Although participation in many sporting activities has increased dramatically in recent years, the study of injuries sustained during training or participation is still in its infancy. The most commonly used strategy is to describe the characteristics of a suitable case-series. This approach is relatively easy to implement, can be used to estimate the total morbidity load in a population, and can identify the relative frequency of various types of injury. However, the case series method cannot validly identify risk factors for injury or athletes at high risk; similarly, it cannot be used to estimate the absolute level of risk associated with sports participation. Finally, the population from which the injuries arose is often difficult to identify, and the series may not be representative of all injuries occurring in that population, and this may produce quite misleading results. In contrast, a variety of epidemiological designs may be employed to address questions of aetiology and to identify high risk groups of athletes. With careful attention to the underlying population denominators, one may estimate the relative or absolute risk of injury for athletes with given risk characteristics, defined by type and intensity of their participation in sports or by their individual physiology. This is achieved by inclusion of suitable control subjects in the epidemiological sample; these controls may be uninjured athletes or random samples of the general population. The comparison of injured and uninjured groups permits valid inferences to be drawn concerning risk factors, avoiding the many potential biases which affect inferences drawn from injured athletes only.

Adult↗
PubMedDate not supplied

Nurse educator performance standards.

In this article, the authors highlight the process by which one staff education department developed performance standards. These standards facilitate orientation of new educators, assist with the planning of developmental goals, and guide the evaluation process. This process can serve as a prototype for nurse educators faced with the challenge of developing performance standards.

Education, Nursing, Continuing↗
PubMedDate not supplied

Attitudes of young men and women to breastfeeding.

The attitudes of young men and women to breastfeeding were examined including perceived incentives and barriers to the practice in cross sectional survey and focus group discussion. The study involoved 177 (100%) fifth and final year students of both sexes and a subsample of 48 students in 6 focus groups in three post primary schools in an Irish midland town. Overall 28% reported that they themselves were breastfed. The most frequent sources of information were the media rather than home or school. A majority of girls (86%) and boys (77%) agreed that breastfeeding was the best method of feeding, but less intended the practice for their children (54%), girls being significantly less likely than boys. There were no patterns in relation to social class and lifestyle. Reasons for breastfeeding in the focus groups included its naturalness, facility of feeding and adequate nourishment. Reasons against related to embarrassment in public, but mainly related to perceived problems with the practicalities of feeding. Health promotion strategies need to reach young people before they initiate pregnancies. Skills based health education courses would be helpful and girls should be aware of the positive attitudes of boys generally.

Adolescent↗