Rett's syndrome: a neurophysiological study

Thirteen girls with Rett's syndrome were evaluated with wakefulness and sleep polygraphic records and EMG studies. The main EEG findings were paroxysmal activity during sleep, multifocal in younger and unifocal in older girls, and "pseudorhythmic flattening". In the opinion of the authors, the changes with age are related to evolution of the disease or maturational changes of CNS. The affectation of the peripheral nervous system was demonstrated in almost half the patients.     

The income level and life styles: towards a law of inverse prevention?

The study of the determinants of disease-related lifestyles may be relevant for better understanding the potential of health policies. In the present work, results of the analysis of the Elche Healthy Cities Interview Survey prevalence of some disease related lifestyles (physical activity level, cigarette consumption, and alcohol intake) are presented according to economic level as measured by monthly family income, 573 people randomly selected from the town rolls were interviewed at home. No associations were found between economic level and alcohol intake or present smoking status. But, trying to stop smoking and regular exercise were more frequent behaviors in higher economic groups. The ratio of prevalence of regular exercise was 1.73 in favor of the highest economic levels. The gradient found was statistically significant (chi 2 for trend = 17.4, p less than 0.01). The results may be of relevance when implementing health policies to overcome inequalities in health: "unequal interventions" may be more adequate.     

The SOL formulas for converting SMOG readability scores between health education materials written in Spanish, English, and French

The SMOG formula is widely used to determine how easy written health education materials are to read and comprehend. This study was conducted to assess whether the SMOG formula, originally developed and tested in English, was also valid for texts written in Spanish and French. Readability scores from a sample of passages written in Spanish, English, and French were analyzed. Study results showed that the SMOG formula seemed to be consistent in measuring readability in the three languages. However, SMOG scores varied from language to language. Two hypotheses are being laid out to explain these results. First, the SMOG equation is systematically biased for texts in Spanish or French. Second, English is more readable than French, and French is more readable than Spanish. Under the assumption of a systematic bias in the SMOG formula, the so-called SOL formulas are presented here to convert SMOG scores between Spanish, English, and French. In addition, a new scale for grading reading difficulty is proposed based on SMOG scores obtained from classical literature. This is important to the extent that it will provide Spanish speaking and French speaking health communicators with a readability formula for preparing written materials appropriate to the level of comprehension of specific target audiences.     

Minimum basic set of data of hospital discharges as a source of information for a study of congenital abnormalities

BACKGROUND: The purpose of this study is that of assessing the validity of the computerized diagnoses of hospital discharges of congenital defects by comparing them with the information included in the medical history. METHODS: Based on the discharge records generated over a one-year period at 7 hospitals in the Autonomous Region of Valencia, 100 children were selected at random from each hospital. As a standard, the diagnoses stated in the medical histories were indexed and coded. Solely those discharges having taken place during the first year of life were considered. A study was also made of the type, seriousness and individual or combinations of congenital defects. A calculation was made of the sensitivity, specificity, predictive values and the 95% confidence intervals thereof by the exact binomial method for the case studies (children) and the positive predictive value and sensitivity for the study of diagnoses. RESULTS: 126 children were detected as having congenital defects, and 201 diagnoses in medical records, and 83 children with congenital defects and 108 diagnoses on record. For the detection of cases, the records showed a 64% sensitivity, a 99.1% specificity and some positive and negative predictive values of over 90%. With regard to the detection of diagnoses, the sensitivity was 46% and the positive predictive value 83%. The sensitivity varied a great deal depending upon the diagnoses. CONCLUSIONS: The hospital discharge records revealed a high degree of specificity and high predictive values, but a low degree of sensitivity. These facts must be considered when these records are used as a source of cases for the epidemiological studies of congenital defects.     

Immunophenotypic and DNA content characteristics of plasma cells in multiple myeloma and monoclonal gammopathy of undetermined significance

In the present paper we review the immunophenotypic characteristics of plasma cells (PC) and the PC DNA contents from multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS), and its value for the differential diagnosis between both entities. The strong reactivity for CD38 and the positivity for CD138 are the two best markers for identifying PC. Myelomatous PC display an heterogeneous phenotype consistent with the fact that the neoplastic clone is able to undergo a certain degree of differentiation. In addition, PC from MM patients usually lack surface expression of B-cell associated antigens and frequently display reactivity for markers which are not restricted to the B-cell lineage. In MGUS patients, two clearly defined and distinct PC subpopulations can be identified. One of these PC subpopulations shows phenotypic characteristics identical to those of normal PC, including a very strong reactivity for the CD38 antigen, intermediate/low light scatter characteristics and positivity for CD19, in the absence of CD56, and corresponds to the residual normal bone marrow PC. The second PC subpopulation shows an immunophenotype similar to that of myelomatous PC, characterized by a slightly lower reactivity for CD38 and strong CD56 expression, on the absence of positivity for CD19, these PC corresponding to the clonal counterpart. Using a simultaneous staining for PC and DNA, around 60% of MM and 73% of MGUS patients display DNA aneuploidy, the majority of them being hyperdiploid. However, in contrast to MM patients, in MGUS patients two clearly different PC subsets can be discriminated in most cases (73%): a diploid and an aneuploid (hyperdiploid) subset, corresponding to normal and clonal PC, respectively. Upon comparing hyperdiploid with diploid patients in MM, the former display a better prognosis, in line with the higher incidence of DNA hyperdiploidy in MGUS. A clear correlation between the percentage of S-phase PC and several prognosis features of MM has been found. In spite of these findings, no significant differences in the percentage of pathological S-phase PC are detected between MM and MGUS patients. Regarding the differential diagnosis between MGUS and MM, multivariate analysis shows that the ratio between the number of clonal and normal residual PC is the best single parameter.     

Meiotic abnormalities and spermatogenic parameters in severe oligoasthenozoospermia

The incidence of meiotic abnormalities and their relationship with different spermatogenic parameters was assessed in 103 male patients with presumably idiopathic severe oligoasthenozoospermia (motile sperm concentration < or = 1.5 x 10(6)/ml). Meiosis on testicular biopsies was independently evaluated by two observers. Meiotic patterns included normal meiosis and two meiotic abnormalities, i.e. severe arrest and synaptic anomalies. A normal pattern was found in 64 (62.1%), severe arrest in 21 (20.4%) and synaptic anomalies in 18 (17.5%). The overall rate of meiotic abnormalities was 37.9%. Most (66.7%) meiotic abnormalities occurred in patients with a sperm concentration < or = 1 x 10(6)/ml. In this group, total meiotic abnormalities were found in 57.8% of the patients; of these, 26.7% had synaptic anomalies. When the sperm concentration was < or = 0.5 x 10(6)/ml, synaptic anomalies were detected in 40% of the patients. In patients with increased follicle stimulating hormone (FSH) concentrations, total meiotic abnormalities occurred in 54.8% (synaptic anomalies in 22.6%). There were statistically significant differences among the three meiotic patterns in relation to sperm concentration (P < 0.001) and serum FSH concentration (P < 0.05). In the multivariate analysis, sperm concentration < or = 1 x 10(6)/ml and/or FSH concentration > 10 IU/l were the only predictors of meiotic abnormalities.