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A Rogatko

Publications and source records attributed to A Rogatko.

51 records · Page 3Linked to original sources
PubMed1990

Axillary lymphadenectomy. A prospective, randomized trial of 13 factors influencing drainage, including early or delayed arm mobilization.

Greater amount and duration of postoperative wound drainage after lymphadenectomy impede healing. We evaluated the influence of early vs delayed initiation of shoulder mobilization on postoperative drainage. Fifty-seven women with clinical stage I or II breast cancer were randomized to either early (postoperative day 2) or delayed (postoperative day 5) shoulder motion. Early vs delayed time of exercise initiation had no effect on total amount or duration of drainage, either as an inpatient or outpatient. The two groups were determined to be homogeneous as to age, breast size, weight, height, obesity, previous biopsy, excision of pectoralis minor, excision of thoracodorsal complex, level of axillary dissection, total number of lymph nodes, number of positive lymph nodes, lymphatic vessel invasion (with negative lymph nodes), and whether the dominant hand was on the side operated on. The two factors predicting greater drainage were large numbers of positive lymph nodes and no previous surgical biopsy (as in one-step procedure).

Arm↗
PubMed1990

Axillary dissection in melanoma. Prognostic variables in node-positive patients.

We evaluated the importance of 14 clinical and pathologic variables as determinants of prognosis in patients with malignant melanoma and positive regional lymph nodes at axillary dissection. The records of 197 patients operated on between 1974 and 1984 were reviewed. Univariate analysis indicated as prognostically significant the number (p less than 0.001) and percentage (p less than 0.001) of positive nodes, highest nodal status (p less than 0.001), macroscopic or microscopic nodal metastases (p = 0.002), presence or absence of extranodal disease (p = 0.003), clinical stage (III versus less than III, p = 0.015), and site (considered as trunk versus other locations, p = 0.02). However, by multivariate analysis, only three variables were shown to be independent determinants of survival: percentage of positive nodes (p = 0.004), presence or absence of extranodal disease (p = 0.012), and site (trunk versus other locations, p = 0.019). Combining these three variables, subsets of patients with markedly different prognoses could be generated. It is possible to predict a favorable outcome for patients with less than 10% positive nodes, no extranodal disease, and a primary lesion at a site other than the trunk. It is also possible to recognize that the prognosis is very poor for patients with extranodal disease and truncal primary lesions, regardless of the percentage of positive lymph nodes. Finally it was verified that the prognosis is always unfavorable when the percentage of positive lymph nodes is very high.

Adult↗
PubMed1989

Association of the Lewis blood-group phenotype with recurrent urinary tract infections in women.

Blood-group antigens are found on the surface of urothelial cells and may affect bacterial adherence and thereby the susceptibility to urinary tract infection. We determined the ABO, P, and Lewis blood-group phenotypes in 49 white women with histories of recurrent urinary tract infections and compared them with those found in 49 healthy control women without recurrent urinary tract infections. There was no significant difference between the two groups in the distribution of the ABO or P phenotypes. The distribution of Lewis blood-group phenotypes among control women was similar to that in the general population: secretor phenotype (Le(a-b+)), 74 percent; nonsecretor phenotype (Le(a+b-)), 18 percent; and recessive phenotype (Le(a-b-)), 8 percent. The following distribution was noted among the women with recurrent urinary tract infections: secretor phenotype, 45 percent; nonsecretor phenotype, 29 percent; and recessive phenotype, 26 percent (P = 0.002). When the women with nonsecretor and recessive phenotypes were combined and considered collectively, the odds ratio (an estimate of relative risk of recurrent urinary tract infection) for those without the secretor phenotype was 3.4 (95 percent confidence interval, 1.5 to 7.9). We conclude that there is an increased frequency of the Lewis blood-group nonsecretor (Le(a+b-] and recessive (Le(a-b-] phenotypes among women with recurrent urinary tract infections.

Adult↗
PubMed1989

International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity.

Fanconi anemia (FA) is characterized clinically by a progressive pancytopenia, diverse congenital abnormalities and increased predisposition to malignancy. Although a variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, study of cellular sensitivity to the clastogenic effect of DNA cross-linking agents such as diepoxybutane (DEB) has been used to facilitate the diagnosis. Data from DEB-induced chromosomal breakage studies of 328 peripheral blood specimens from patients considered at risk for FA were analyzed using a stepwise multivariate logistic regression, in order to determine which method of representing the data best discriminated between DEB-sensitive (DEB+) and DEB-insensitive (DEB-) cases. Similar methods were applied to the data from the International Fanconi Anemia Registry (IFAR) to determine whether DEB+ and DEB- cases may be considered as distinct clinical entities, and if so, which variables provide the best discrimination between the two groups. We conclude that hypersensitivity to the clastogenic effect of DEB is a useful discriminator for FA. A simplified scoring method for classifying patients on the basis of eight clinical manifestations that are the best predictors for FA is presented. Our data indicate that the clinical diversity in FA is more widespread than previously recognized.

Anemia, Aplastic↗
PubMed1988

Evaluating the uncertainty of risk prediction in genetic counseling: a Bayesian approach.

A general method to obtain the exact point estimate and the measure of uncertainty of recurrence risks for genetic counseling is present. This method, which follows Bayesian estimation theory, can be applied without restrictions of sample size, class of risk function, or parameter dimension. As an illustration, the recurrence risks for isolated cases in two autosomal dominant disorders with incomplete penetrance (mandibulofacial and fontonasal dyostoses) are estimated.

Bayes Theorem↗
PubMed1988

Recurrence risks for relatives in families with an isolated case of the fragile X syndrome.

The proportion of sporadic cases among affected males with fragile X-related mental impairment was reinvestigated in a new sample of family data and compared to previous studies. It was found that the estimate has increased over time from 0 in the original study to 0.24 in the present study. This difference indicated that the correction used for the ascertainment of families in the original study may not have been adequate and that the suggestion that all mothers of affected males are obligate carriers may be wrong. Based on this new information, recurrence risks for relatives in a family with an isolated case of the fragile X or Martin-Bell syndrome were calculated under different assumptions in order to investigate the effect of 1) the knowledge of the phenotype of ancestors of the proband, 2) the dependence of expression of the mutation on the sex of the carrier parent, 3) the value of the penetrance of mental impairment (MI), and 4) the equality of mutation rates in egg and sperm. The assumptions made for modelling the mutational process had the greatest effect on the recurrence risk in sibs of an isolated case, whereas small differences in penetrance parameters and assumptions based on whether the ancestors were known to be normal or of unknown phenotype made little difference. Recurrence risks for the sibs and first cousins of an isolated case calculated under different assumptions are presented.

Female↗
PubMed1988

Segregation analysis with uncertain ascertainment: application to Fanconi anemia.

A Bayesian solution for making inferences about segregation parameters with no information about the ascertainment is presented. Inferences about the segregation probability and the probability of being sporadic are made through the posterior marginal distribution of these parameters after integrating out the ascertainment probability, the nuisance parameter. The method was tested with real and simulated data and performed well. Original Fanconi anemia data, for which no information about the ascertainment was available, were then analyzed, with results that confirmed a monogenic autosomal recessive mode of inheritance.

Anemia, Aplastic↗
PubMed1986

A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses.

We describe a Bayesian method of estimating penetrance from genealogical data. It consists of calculating the likelihood of the data alone to make inferences about penetrance without sample space considerations. The method is applied to mandibulofacial dysostosis giving a penetrance of 0.908 with 0.95 credible interval of [0.809; 0.972] and to frontonasal dysostosis giving a penetrance of 0.670 with 0.95 credible interval of [0.457; 0.851].

Craniofacial Dysostosis↗
PubMed1982

Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of Duchenne muscular dystrophy (DMD).

The activities of pyruvate-kinase (PK) and creatine-kinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between the two population samples. In amniotic fluid, very little or no PK or CK activity was found. However, the mean PK activity in amniotic fluid obtained from women carrying male fetuses was significantly higher than in those carrying female fetuses. At the present time, it is concluded that if a woman at risk for having a son with Duchenne dystrophy is seeking genetic counseling when already pregnant her serum PK or CK should be compared with that of normal female pregnant controls. It is also suggested that determination of pyruvate-kinase in fetal blood might be used in addition to CK for prenatal diagnosis of Duchenne muscular dystrophy.

Adult↗
PubMed1981

Autosomal dominant late adult spinal muscular atrophy, type Finkel.

We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of patients confirmed the neurogenic nature of the conditions. Unusual findings in this disorder were cramps, spontaneous fits of suffocation, and symptomatic myotonia. Other manifestations are slow loss of muscle strength and progressive proximal atrophy, which starts in the lower limbs and progresses to the upper limbs; hypoactive or absent tendinous reflexes; and generalized fasciculations. Sensory and cranial nerve function is unimpaired. Probabilities for genetic counseling are evaluated by means of a method adequate to the late-onset nature of the condition.

Diagnosis, Differential↗
PubMedDate not supplied

Prediction of recurrence and survival by post-resection CA 19-9 values in patients with adenocarcinoma of the pancreas.

BACKGROUND: CA 19-9 levels are useful for the diagnosis of patients with pancreatic adenocarcinoma. However, interest has recently turned toward its use as a prognostic indicator. The purpose of this study is to determine whether postoperative CA 19-9 levels predict disease-free survival (DFS) and median survival (MS) in patients after resection. METHODS: Between 1988 and 1996, 40 patients underwent resection for pancreatic adenocarcinoma and were evaluated with postoperative CA 19-9 assays. Eight patients had low preoperative levels of CA 19-9 (< 2) and were excluded. RESULTS: CA 19-9 levels are good predictors of DFS and MS. Patients whose postoperative CA 19-9 values normalized by 3 to 6 months (< 37 U/ml) had longer DFS (24 vs. 10 months, p < 0.04) and MS (34 vs. 13 months, p < 0.04). Patients with postoperative CA 19-9 values less than 180 U/ml at 1 to 3 months had a similar DFS (19 vs. 5 months, p < 0.0009) and MS (34 vs. 13 months, p < 0.0001) compared to patients with normal values at 3 to 6 months. CONCLUSIONS: Postoperative measurements of CA 19-9 were the best predictors of DFS and MS. Values < 180 U/ml at 3 months were as predictive as normal values by 3 to 6 months postoperatively. Consequently, CA 19-9 levels should be obtained for use as a stratification parameter in phase III trials.

Adenocarcinoma↗
PubMedDate not supplied

Evaluation of genotype data in clinical risk assessment: methods and application to BRCA1, BRCA2, and N-acetyl transferase-2 genotypes in breast cancer.

Associations of numerous susceptibility genes with disease risk have been reported. However, objective methods have not been developed to evaluate the conditions under which translation of knowledge about susceptibility genotypes may be clinically informative. We describe and apply a statistical approach to evaluate when genotype information may be clinically informative in disease risk assessment. We estimate an interval of cumulative cancer incidences where it may be appropriate to use these genes in disease risk assessment. We also estimate the magnitude of a log odds ratio (H) that measures genotype-disease association. We illustrate this method with three breast cancer susceptibility genotypes: population screening data evaluating the 185delAG mutation at BRCA1 and the 6174delT mutation at BRCA2 in a Ashkenazi Jewish population, and case control data for the slow acetylation genotype at the N-acetyl transferase 2 (NAT2) gene in combination with smoking. Knowledge of the 185delAG mutation in BRCA1 (HdelAG = 3.42; 95% CI: 3.04, 3.79) or the 6174delT mutation in BRCA2 (HdelT = 1.98; 95% CI: 1.16, 2.30) can be clinically informative in distinguishing individuals who are and are not at breast cancer risk in populations with cumulative breast cancer incidences of > or = 4% and > or = 13%, respectively. NAT2 genotypes alone are much less clinically informative in predicting breast cancer risk (HNAT2 = 0.10). However, knowledge of both heavy smoking 20 years ago and NAT2 genotype is a more clinically informative predictor of postmenopausal breast cancer risk with HNAT2 = 2.19, when the cumulative breast cancer incidence in the target population is at least 31%. These results indicate that knowledge of the 185delG mutation-status may be clinically informative even in populations with low cumulative breast cancer incidences, whereas the 6174delT mutation and NAT2 genotypes may only be clinically informative in a population with higher cumulative breast cancer incidence. The proposed approach can be used to objectively evaluate the conditions under which susceptibility genotypes may be applied for risk assessment or genetic screening.

Adult↗