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[Familial hyperparathyroidism].

Recently, not only the multiple endocrine adenomatosis (MEN)-associated type but also the type which can be isolated from MEN syndrome have been widely accepted in the classification of familial hyperparathyroidism. Analysis of gene markers specific to MEN syndrome contributed markedly to the establishment of isolated familial hyperparathyroidism. We attempted an analysis of 15 pedigrees in the report of familial hyperparathyroidism in which MEN syndrome was actively ruled out. In 7 pedigrees, adenoma alone was seen while in 2 pedigrees was hyperplasia alone seen. In 6 pedigrees parathyroid carcinoma was also admitted (other members of the pedigree were affected with parathyroid adenoma or hyperplasia). There were 5 pedigrees in which cementifying fibroma or ossifying fibroma of the jaw was associated with familial hyperparathyroidism. The association of parathyroid carcinomas or benign jaw tumors should be paid attention.

Fibroma↗

Morbid prognostic features in patients with chronic liver failure undergoing nonhepatic surgery.

BACKGROUND: Although the risk of portal decompression surgery is accurately predicted by objective scoring systems (Child classification and Pugh score), few useful prognostic criteria exist regarding nonhepatic surgery in patients with chronic liver failure. OBJECTIVE: To evaluate the clinical findings associated with perioperative mortality in patients with chronic liver failure undergoing nonhepatic surgery. DESIGN: A retrospective cohort study. SETTING: University teaching hospitals. PATIENTS: Forty consecutive patients with an International Classification of Diseases, Ninth Revision (ICD-9), diagnosis of chronic liver failure and one or more of the following: jaundice, cirrhosis, chronic hepatitis, or alcoholism. INTERVENTIONS: Forty operations, including 28 abdominal procedures, 2 coronary artery bypass grafts, 5 orthopedic procedures, and 5 miscellaneous procedures. MAIN OUTCOME MEASURES: Thirty-day mortality as related to 19 preoperative clinical and laboratory variables. RESULTS: Eleven (28%) of the patients died within 30 days of surgery. By univariate analysis, the following variables were significantly (P < .05, pearson chi 2 test for categorical data or Mann-Whitney U test for continuous data) associated with nonsurvival: encephalopathy, congestive heart failure, the need for emergent surgery, infection, hyperbilirubinemia, international normalized ratio greater than 1.6, hypoalbuminemia, and an elevated creatinine level. By multiple logistic regression analysis, an international normalized ratio greater than 1.6 and encephalopathy were associated with a greater than 10- and 35-fold increased mortality risk, respectively. Child classification and Pugh score failed to predict 30-day mortality. CONCLUSIONS: We identified 8 clinical and laboratory variables associated with death within 30 days in patients with chronic liver failure undergoing nonhepatic surgery. Two factors-international normalized ratio greater than 1.6 and encephalopathy-independently predicted mortality by multivariate analysis. Neither Child classification nor Pugh score was prognostically helpful. Nonhepatic surgery confers a substantial mortality risk in patients with chronic liver failure.

Adult↗

DNA image cytometry of prostatic carcinoma: a comparison of needle core biopsy and subsequent prostatectomy specimens.

DNA ploidy has recently been identified as an objective prognostic factor in prostatic carcinoma. Although the diagnosis of prostatic carcinoma is increasingly being made with the use of needle core biopsies, the optimal method for the cytometric analysis of these specimens has yet to be determined. In addition, the degree to which the biopsy is representative of the subsequent prostatectomy specimen with respect to DNA heterogeneity has not been adequately addressed. In this study, image cytometric (ICM) DNA analysis was performed on tissue sections from 12 prostatic needle core biopsies and the results were compared with similar ICM analysis of the subsequent prostatectomy specimens. Multiple blocks (n = 48) of the prostatectomy specimens were utilized to prepare tissue sections and nuclear suspensions and each set of preparations were analyzed by ICM in a parallel comparison study. There was concordance of 0.80 in the classification of DNA diploid and aneuploid tumors by ICM analysis of tissue sections and nuclear suspensions from paraffin blocks. In all of the discordant cases, DNA aneuploid populations were identified by ICM analysis of tissue sections only. This is attributed to difficulties in obtaining a representative nuclear suspension from disaggregated paraffin-embedded prostatic tissue which often has a very desmoplastic stroma. ICM analysis of tissue sections seems to be an optimal method for DNA ploidy analysis of prostatic carcinoma and is well suited to small volume biopsy material. Determination of DNA ploidy status in prostatic biopsies was predictive of the subsequent prostatectomy specimens with a concordance of 0.92.

Aged↗

The classification of solvents by combining classical QSPR methodology with principal component analysis.

The results of a quantitative structure-property relationship (QSPR) analysis of 127 different solvent scales and 774 solvents using the CODESSA PRO program are presented. QSPR models for each scale were constructed using only theoretical descriptors. The high quality of the models is reflected by the squared multiple correlation coefficients that range from 0.726 to 0.999; only 18 models have R2< 0.800. This enables direct theoretical calculation of predicted values for any scale and/or for any organic solvent, including those previously unmeasured. The molecular descriptors involved in the models are classified and discussed according to (i) the origin of their calculation (i.e., constitutional, geometric, charge-related, etc.) and (ii) the commonly accepted classification of physical interactions between the solute and solvent molecules in liquid (condensed) media. A reduced matrix 774 (solvents) x 100 (solvent scales) was selected for the principal component analysis (PCA) by taking into account only the solvent scales with more than 20 experimental data points. The first 5 principal components account for 75% of the total variance. The robustness of the PCA model obtained was validated by the comparison models development for restricted submatrices of data and with the results obtained for the full data set. The total variance accounted for by the first three PCs, for the submatrices with the same number of solvent scales but different numbers of solvents, varies from 68.2% to 59.0%. This demonstrates that the total variance described by the first 3 components is essentially stable as the number of solvents involved varies from 100 to 774. Subsequently, a matrix with 703 diverse solvents and 100 solvent scales was selected for the general classification of the solvents and scales according to the scores and loadings obtained from the PCA treatment. Classification of the theoretical molecular descriptors, derived from the chemical structure alone, according to their relevance to specific types of intermolecular interaction (cavity formation, electrostatic polarization, dispersion, and hydrogen bonding) in liquid media enables a more easily comprehensible physical interpretation of the QSPR of molecular properties in liquids and solutions. The reported QSPR models for solvent scales with theoretical molecular descriptors and the results of the PCA analysis are potentially of great practical importance, as they extend the applicability of correlations with empirical solvent scales to many previously unmeasured systems.

Journal Article↗

Array2BIO: from microarray expression data to functional annotation of co-regulated genes.

BACKGROUND: There are several isolated tools for partial analysis of microarray expression data. To provide an integrative, easy-to-use and automated toolkit for the analysis of Affymetrix microarray expression data we have developed Array2BIO, an application that couples several analytical methods into a single web based utility. RESULTS: Array2BIO converts raw intensities into probe expression values, automatically maps those to genes, and subsequently identifies groups of co-expressed genes using two complementary approaches: (1) comparative analysis of signal versus control and (2) clustering analysis of gene expression across different conditions. The identified genes are assigned to functional categories based on Gene Ontology classification and KEGG protein interaction pathways. Array2BIO reliably handles low-expressor genes and provides a set of statistical methods for quantifying expression levels, including Benjamini-Hochberg and Bonferroni multiple testing corrections. An automated interface with the ECR Browser provides evolutionary conservation analysis for the identified gene loci while the interconnection with Crème allows prediction of gene regulatory elements that underlie observed expression patterns. CONCLUSION: We have developed Array2BIO - a web based tool for rapid comprehensive analysis of Affymetrix microarray expression data, which also allows users to link expression data to Dcode.org comparative genomics tools and integrates a system for translating co-expression data into mechanisms of gene co-regulation. Array2BIO is publicly available at http://array2bio.dcode.org.

Algorithms↗

[Prediction of calculus clearance after extracorporeal shock wave lithotripsy of calculi in the inferior kidney calices. Application of the artificial neural network].

The purpose of this retrospective study was to define prognostic factors which determine the stone clearance (SC) for lower caliceal stones after extracorporeal shock wave lithotripsy (ESWL) and to compare the prediction accuracy of artificial neural network analysis (ANNA) and standard computational methods. Since January 1995, 321 renal units in 310 patients with single or multiple inferior caliceal calculi of all sizes and compositions have been treated with ESWL (Lithotriptor: Piezolith 2500, Wolf company). The classification accuracy of ANNA in the test set was 94%, with a sensitivity of 95%, a specificity of 92%, and a receiver operating characteristic curve area of 0.966, results significantly better than those yielded by a logistic regression analysis (classification accuracy 77%, sensitivity 75%, specificity 81%, and ROC curve area 0.779). Patients with lower renal caliceal stones appear to have the best chance of successful ESWL when their body mass index (BMI) and urinary transport (UT) are normal, the infundibular width (IW) is 5 mm or more, and the infundibular ureteropelvic angle (IUPA) is 45 degrees or more. Stone size and composition, as factors of SC, are not statistically significant. After determining the angle, width, and UT in patients with optimal age and body mass suitable for ESWL, SC can be achieved irrespective of stone size and composition.

Adolescent↗

Primary myelodysplastic syndromes: analysis of prognostic factors in 235 patients and proposals for an improved scoring system.

In an attempt to identify prognostic factors for survival and leukemic transformation, 235 untreated patients with primary myelodysplastic syndromes (MDS) were analyzed in a single center retrospective study. To the well known FAB classification of MDS a supplementary group of patients with pure sideroblastic anemia (PSA) was added, characterized by the absence of dysplastic features of non-erythroid cells. Accordingly, the morphological subtypes were refractory anemia (RA), n = 55; PSA, n = 40; RA with ring sideroblasts (RARS), n = 33; RA with excess of blasts (RAEB), n = 53; RAEB in transformation (RAEB/T) n = 29; and chronic myelomonocytic leukemia (CMML), n = 25. Having screened 28 clinical, cytological, and laboratory parameters by univariate analysis, multiple regression analysis identified six variables with independent prognostic value: percentage of bone marrow blasts, serum LDH activity, PSA, hemoglobin concentration, age, and platelet count. If patients with PSA were excluded, the FAB classification no longer contributed independent prognostic information. Based on the results of this multivariate analysis, a simple scoring system was devised for predicting the survival of patients with MDS. A score of unity was allocated to each of the following parameters: bone marrow blasts greater than or equal to 5%, LDH greater than 200 U/I, hemoglobin less than or equal to 9 g/dl, and platelets less than or equal to 100 x 10(9)/I. As a function of their total score, patients were divided into three risk groups (group A, score 0; group B, score 1-2; group C, score 3-4), which differed significantly in both survival and rates of leukemic transformation. The cumulative survival 2 years after diagnosis was 91% in group A, 52% in group B, and 9% in group C (p less than 0.00005). The actuarial risk of transformation to acute myeloid leukemia at 2 years was 0, 19, and 54%, respectively (p less than 0.05). The inclusion of LDH enzyme levels qualified this scoring system for an accurate assessment of patients with CMML whose prognosis is viewed too favorably when rated by other scores. Furthermore, this score was able to identify those patients with RA and RARS who, without showing an excess of marrow blasts, have an unfavorable prognosis.

Adolescent↗

[Outcome evaluation in putaminal hemorrhage by multiple regression analysis].

The aim of this study was to determine the factors that influence the prognosis of hypertensive putaminal hemorrhage. We investigated the outcome of the activity of daily living (ADL 1: full recovery at social life, 2: self cared, 3: required partial care at home, 4: remained bedridden, 5: vegetative state, 6: dead) one year after the onset of putaminal hemorrhage in comparison with initial data obtained on the day when it occurred. The following parameters were assessed: sex, age, side of hematoma, classification of computed tomography (CT) findings, neurological grade, degree of muscle power, hematoma volume, treatment, past history of cerebrovascular disease, and laboratory data. In 67 patients with putaminal hemorrhage, the relationships among these parameters were examined using Spearman's rank correlation analysis. Additionally, in 55 patients (24 male and 31 female) with complete data from the day of onset, multiple regression analysis was performed. The data of muscle power were handled by the quantification method. The result of Spearman's rank correlation coefficient indicated that the outcome had a positive correlation with age (correlation coefficient = 0.375), CT classification (0.595), neurological grade (0.714), hematoma volume (0.689), a past history of cerebrovascular disease (0.475), the white blood cell count (0.541), and the lactate dehydrogenase level (0.347). The outcome had a negative correlation with muscle power (-0.579) and the cholinesterase (-0.340).(ABSTRACT TRUNCATED AT 250 WORDS)

Activities of Daily Living↗

Plasma amino acids as predictors of the severity and outcome of sepsis.

Sepsis is a major catabolic insult resulting in a peripheral energy deficit which is made up in part by increased breakdown of lean body mass and oxidation of amino acids, principally the branched chain amino acids. The prognosis in any given case of sepsis is difficult to predict, but should theoretically be related to the degree of disturbance in peripheral energy deficit, which may in turn, be related to plasma amino acid pattern. In order to study whether this hypothesis was correct, plasma amino acids and some of their metabolic byproducts, the beta-hydroxyphenylethanolamines, were studied in 25 septic patients, and were used as discriminant variables in a series of computer performed discriminant analyses and multiple regressions. The two functions tested were the degree of metabolic septic encephalopathy as a determinant of the severity of sepsis and the final outcome in the septic patient. Plasma amino acid patterns exhibited elevated levels of the aromatic and sulfur containing amino acids, phenylalanine, tryosine, tryptophan, methionine, cysteine, and taurine, normal concentrations of alanine, and low normal concentrations of the branched chain amino acids, valine, leucine and isoleucine. Arginine levels, as previously noted, were very low. Patients not surviving the septic episode exhibited higher concentrations of aromatic and sulfur containing amino acids, while patients surviving sepsis had higher concentrations of the branched chain amino acids and arginine. When the degree of encephalopathy as a determinant of the severity of sepsis and step wise discriminant analysis with multiple crescent techniques were used, the best discriminant function between patients with and without encephalopathy was found to result from the interaction of cysteine, methionine, phenylalanine, isoleucine, leucine, and valine. These amino acids gave a correct classification in 82% of patients with no encephalopathy, and 80% of patients with septic encephalopathy. When the same amino acids were used for the discriminant analysis for patients dying of sepsis and patients surviving, the best discriminant function was achieved by using plasma concentrations of alanine, cysteine, methionine, isoleucine, arginine, tyrosine and phenylalanine resulting in 91% of the nonsurvivors, and 79% of the survivors correctly classified. The results suggest a close and significant relationship between the deranged energy metabolism and muscle protein breakdown in sepsis, and the outcome. This further suggests a central role for certain amino acids in perhaps predicting the severity of sepsis and its outcome.

2-Hydroxyphenethylamine↗

The prevalence of thiamin deficiency in hospitalized patients with congestive heart failure.

OBJECTIVES: The purpose of this study was to determine the prevalence of thiamin deficiency (TD) in a cross section of hospitalized congestive heart failure (CHF) patients and to investigate factors that contribute to its development. BACKGROUND: Thiamin deficiency manifests as symptoms of CHF and, therefore, may worsen existing heart failure. Congestive heart failure patients may be at increased risk for TD as a result of diuretic-induced urine thiamin excretion, disease severity, malnutrition, and advanced age. METHODS: Erythrocyte thiamin pyrophosphate concentrations, using high-performance liquid chromatography, were measured in 100 CHF patients and compared to 50 control subjects. Variables including diuretics (type and dose), left ventricle dysfunction, New York Heart Association functional classification, creatinine clearance, thiamin intake (diet and supplements), malnutrition, appetite ratings, and age were related to TD using univariate statistics and multiple logistic regression analysis. RESULTS: Thiamin deficiency was more prevalent in CHF patients (33%) compared to control subjects (12%) (p = 0.007). Thiamin deficiency was related to urine thiamin loss (p = 0.03), non-use of thiamin-containing supplements (p = 0.06), and preserved renal function (p = 0.05). Increased urinary thiamin loss (mug/g creatinine) was found to be the only significant positive predictor of thiamin status on multiple logistic regression analysis (p = 0.03). CONCLUSIONS: One-third of hospitalized CHF patients were TD. In contrast to previous studies, increased urinary losses of thiamin were predictive of improved thiamin status. Thiamin supplementation may be protective against TD in the clinical setting. Future studies are warranted to determine if thiamin supplementation improves thiamin status and disease severity in CHF patients.

Aged↗

Plasma endothelin in congestive heart failure: effect of the ACE inhibitor, fosinopril.

OBJECTIVES: The study evaluates the influence of treatment with the angiotensin-converting enzyme inhibitor, fosinopril, on the plasma endothelin level in patients with congestive heart failure, and the relationship between plasma endothelin and clinical study parameters (bicycle exercise test, echocardiography, heart failure score and blood pressure). METHODS: Plasma endothelin was measured in 34 patients with moderately severe congestive heart failure at randomisation in the fosinopril/placebo-controlled study 'Fosinopril Efficacy and Safety Trial' and at the end of the 12-week study period. RESULTS: The patients had elevated pre-treatment plasma endothelin concentrations (3.5 +/- 1.2 pg/ml, mean +/- s.d., n = 34) compared with healthy volunteers (2.0 +/- 0.4 pg/ml, n = 21, P < 0.0001). Treatment with fosinopril for 12 weeks lowered plasma endothelin from 3.5 +/- 1.2 to 2.5 +/- 0.7 pg/ml (m = 18, P < 0.005), in contrast to the non-significant increase in the placebo-treated group 3.5 +/- 1.3 to 4.3 +/- 2.4 pg/ml, n = 16). A multiple regression analysis for baseline study parameters, demonstrated a significant relationship between plasma endothelin and exercise test duration and a composite heart failure score classification (r = 0.53, P < 0.001). CONCLUSIONS: Treatment of patients with congestive heart failure with the angiotensin-converting enzyme inhibitor, fosinopril, reduce the elevated plasma endothelin level to normal values. The relation between plasma endothelin and clinical parameters indicates that endothelin may play a pathophysiological role in the progression of congestive heart failure.

Aged↗

QSAR and classification of murine and human soluble epoxide hydrolase inhibition by urea-like compounds.

A data set of 348 urea-like compounds that inhibit the soluble epoxide hydrolase enzyme in mice and humans is examined. Compounds having IC(50) values ranging from 0.06 to >500 microM (murine) and 0.10 to >500 microM (human) are categorized as active or inactive for classification, while quantitation is performed on smaller compound subsets ranging from 0.07 to 431 microM (murine) and 0.11 to 490 microM (human). Each compound is represented by calculated structural descriptors that encode topological, geometrical, electronic, and polar surface features. Multiple linear regression (MLR) and computational neural networks (CNNs) are employed for quantitative models. Three classification algorithms, k-nearest neighbor (kNN), linear discriminant analysis (LDA), and radial basis function neural networks (RBFNN), are used to categorize compounds as active or inactive based on selected data split points. Quantitative modeling of human enzyme inhibition results in a nonlinear, five-descriptor model with root-mean-square errors (log units of IC(50) [microM]) of 0.616 (r(2) = 0.66), 0.674 (r(2) = 0.61), and 0.914 (r(2) = 0.33) for training, cross-validation, and prediction sets, respectively. The best classification results for human and murine enzyme inhibition are found using kNN. Human classification rates using a seven-descriptor model for training and prediction sets are 89.1% and 91.4%, respectively. Murine classification rates using a five-descriptor model for training and prediction sets are 91.5% and 88.6%, respectively.

Animals↗

Studentship in preservice teacher education: a qualitative study of undergraduate students in physical education.

Studentship is a process by which teacher trainees react to the demands of their training environment. It consists of an array of behaviors that students may employ in order to progress through a training program with greater ease, more success, and less effort. The purpose of this study was to examine in a naturalistic setting the types of studentship behaviors teacher trainees employ, the context within which such behaviors were displayed, and the total for regularities that might allow for the development of theories that are grounded in data. The data generated by the study might enhance the development of theories. Data collection consisted of nonparticipant observation, formal and informal interviews, and a document analysis. Data were analyzed by multiple reviews of all data sources, sorting and resorting of themes, development of 21 final subcategories and four major classifications, and preparation of summary descriptors from a triangulated perspective. It was determined that the observed studentship behaviors can best be classified under the following four major headings: short cutting, cheating, colluding and psyching-out, and image projection. Several conditions had to be present before students could employ some types of studentship, and studentship was influenced by such factors as perceived pressure to meet instructor expectations, students' perceptions regarding the worth of assignments, and the importance of receiving good grades.

Attitude↗

Multiple dipole modeling and localization from spatio-temporal MEG data.

An array of biomagnetometers may be used to measure the spatio-temporal neuromagnetic field or magnetoencephalogram (MEG) produced by neural activity in the brain. A popular model for the neural activity produced in response to a given sensory stimulus is a set of current dipoles, where each dipole represents the primary current associated with the combined activation of a large number of neurons located in a small volume of the brain. An important problem in the interpretation of MEG data from evoked response experiments is the localization of these neural current dipoles. We present here a linear algebraic framework for three common spatio-temporal dipole models: i) unconstrained dipoles, ii) dipoles with a fixed location, and iii) dipoles with a fixed orientation and location. In all cases, we assume that the location, orientation, and magnitude of the dipoles are unknown. With a common model, we show how the parameter estimation problem may be decomposed into the estimation of the time invariant parameters using nonlinear least-squares minimization, followed by linear estimation of the associated time varying parameters. A subspace formulation is presented and used to derive a suboptimal least-squares subspace scanning method. The resulting algorithm is a special case of the well-known MUltiple SIgnal Classification (MUSIC) method, in which the solution (multiple dipole locations) is found by scanning potential locations using a simple one dipole model. Principal components analysis (PCA) dipole fitting has also been used to individually fit single dipoles in a multiple dipole problem. Analysis is presented here to show why PCA dipole fitting will fail in general, whereas the subspace method presented here will generally succeed. Numerically efficient means of calculating the cost functions are presented, and problems of model order selection and missing moments are discussed. Results from a simulation and a somatosensory experiment are presented.

Algorithms↗

Estimation of number of independent brain electric sources from the scalp EEGs.

In electromagnetic source analysis, many source localization strategies require the number of sources as an input parameter (e.g., spatio-temporal dipole fitting and the multiple signal classification). In the present study, an information criterion method, in which the penalty functions are selected based on the spatio-temporal source model, has been developed to estimate the number of independent dipole sources from electromagnetic measurements such as the electroencephalogram (EEG). Computer simulations were conducted to evaluate the effects of various parameters on the estimation of the source number. A three-concentric-spheres head model was used to approximate the head volume conductor. Three kinds of typical signal sources, i.e., the damped sinusoid sources, sinusoid sources with one frequency band and sinusoid sources with two separated frequency bands, were used to simulate the oscillation characteristics of brain electric sources. The simulation results suggest that the present method can provide a good estimate of the number of independent dipole sources from the EEG measurements. In addition, the present simulation results suggest that choosing the optimal penalty function can successfully reduce the effect of noise on the estimation of number of independent sources. The present study suggests that the information criterion method may provide a useful means in estimating the number of independent brain electrical sources from EEG/MEG measurements.

Action Potentials↗

Flow cytometric immunophenotyping of mature lymphatic neoplasias using knowledge guided cluster analysis.

Flow cytometry is widely used for the immunological characterization of hematopoietic malignancies. Discrimination of normal and malignant cellular immunophenotypes is the most critical step in data analysis, especially if multi-color analysis is performed on highly heterogenous cell suspensions. We therefore investigated, whether adaptive, simultaneous multiparameter gating allowed automated, operator independent analysis of data obtained from the immunophenotyping of blood or bone marrow samples with regard to the presence of non-Hodgkin lymphoma cells. The identification of physiological and malignant cells was achieved by predefining population boundaries, based on the expectations of the population's location in two-dimensional dot plots. The prospective application of these predefined region boundaries in 52 blood and bone marrow samples enabled identification of lymphoma cells with regard to their presence and immunophenotype, based on the correlation of markers as defined in multiple tubes. Our data confirm that highly standardized data analysis methods can reduce the variability of analysis and support the expert in establishing a rapid classification of the sample.

B-Lymphocytes↗

Infant heart rate response to trigeminal airstream stimulation: determination of normal and deviant values.

In this study, trigeminal airstream stimulation is used on a group of normal, sleeping infants to screen for reflex bradycardia. Infants were tested at 1--3 days and at 4, 8, 12, and 16 weeks of age. The usual heart rate response was acceleration above the prestimulus level. The amount of heart rate change was seen to depend on prestimulus rate and, to a lesser extent, postconceptional age. Multiple regression analysis of the data provided estimates of expected responses, given postconceptional age and prestimulus heart rate. From these, ranges were established for classification of normal or abnormal responses. Six deviant data points over 2 SDs from expected values were identified. Two of these represented heart rate increases and four were heart rate decreases. One deviant heart rate decrease was over 3 SDs from the mean. Although the deviant increases were thought to represent exaggerated startles, the more severe heart rate decreases were believed to be a reflex resembling the diving reflex.

Heart Rate↗

Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations.

Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases were of the familial type (hereditary ataxias) encountered in 23 families and the remaining 20 were of sporadic onset. 18 cases (from 11 families) were of "probable" autosomal recessive (AR) inheritance, 12 cases (8 families) had Friedreich's type ataxia (FA), 4 cases (2 families) had FA type ataxia with retained reflexes and in 2 cases (1 family) the exact phenotypic characterization could not be made. AR inheritance in these cases seemed most likely in view of the occurrence in a single generation with unaffected parents and history of consanguinity in many of the families studied. Genotypic confirmation of FA type ataxia and its variants could not be done in any case due to the non-availability of technology for studying the FA locus but some common dominant ataxia genotypes could be excluded. Thirty-two cases (from 12 families) with autosomal dominant ataxias (ADCA) were studied. Genotype analysis revealed 4 families with SCA2 genotype, 5 families with SCA3 and 3 families where genotypic characterization could not be made (phenotypically 2 were of ADCA I and 1 of ADCA II). No clear preponderance of one particular genotype of SCA over another could be demonstrated in our ethnic Bengalee patients. We also noted significant intra and inter-family variations in phenotypes within the same genotypic form as well as overlapping of clinical signs between different genotypes. Slow saccades and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotype. Similarly, extrapyramidal features, ophthalmoplegias and distal amyotrophy were seen in some but not all families with the SCA3 genotype. Phenotypic expression appeared to be an inconsistent marker of the SCA genotype in our patients. Of the 20 sporadic cases with cerebellar ataxia, genotype analysis revealed 2 cases with SCA1 and 1 with SCA2. Some of the sporadic ataxia cases had extracerebellar involvement and may warrant classification as Multiple System Atrophy. In all the 3 subjects with genotype characterization, phenotype correlation was lacking. The clinical pattern of hereditary ataxias in ethnic Bengalees seems to be somewhat different from that seen in Western India. The need for clinical and genetic studies of ataxias in different specific ethnic populations of India has been stressed.

Adolescent↗