Neurological evaluation of neonates with intraventricular and periventricular hemorrhage

We studied the clinical aspects of 100 consecutive premature newborns with and without intraventricular and periventricular hemorrhage (IPVH).The diagnosis of IPVH was obtained by ultrasonic scans of the skull during the first week of life and at the age of one month. Forty eight percent of newborns with IPVH had abnormal results, and there was a significant correlation with the neurological evaluation in 85% of the infants. The probability of normality for a child with no associated brain abnormalities was 72%, whereas for a child of the same gestational age with associated brain abnormalities was 48.7%.

Ressonância magnética e características clínicas em adultos com doenças desmielinizantes monofásicas: encefalomielite aguda disseminada ou uma variante da esclerose múltipla?

Acute disseminated encephalomyelitis (ADEM) is a widespread monophasic inflamatory disease affecting the central nervous system, that usually follows an infection or vaccination. In this study, we present an analysis of magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and clinical aspects in four patients with clinical diagnosis of ADEM. The presence of MRI demyelinating lesions was crucial, but not in itself sufficient for definitive diagnosis. Clinical and MRI follow up, in order to exclude new lesions and to reevaluate the former ones, as well as CSF, were important for the differential diagnosis with other demyelinating diseases, particularly multiple sclerosis. In addition, we have shown that early treatment with methylprednisolone after the initial symptoms was effective for improving clinical manifestations as well as for reducing MRI lesions.

Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Sexual dysfunction in epilepsy: identifying the psychological variables

In order to evaluate the psychological variables that affect sexual dysfunction (SD) in epilepsy, where compared 60 epileptics (Group 1) with 60 healthy individuals (Group 2), through the State-Trait Anxiety Inventory (Spielberger et al., 1970), Beck Depression Inventory (Beck, 1974) and Sexual Behavior Interview (Souza, 1995). Sexual dysfunction (SD), anxiety and depression were found more frequently in Group 1 than in Group 2 and were not related to sex. Variables such as the onset duration and frequency of seizures as well as the use to medication were not associated with SD. Temporal lobe epilepsy was related to SD (p = 0.035) but not to anxiety or depression. Anxiety and depression were related to SD in both groups. Perception in controlling the seizures was closely related to anxiety (p = 0) and depression (p = 0.009). We conclude that psychological factors play an important role in the alteration of sexual behavior in epileptics and that suitable attention must be given to the control of these variables.

Diagnóstico da Educação Ambiental no ensino de Geografia: Piracicaba, Capivari and Jundiaí hidrographic basins

The goals of this study are to identify the potencialities avaiable in elementary public schools for the development of an educational process wich includes environmental issues helpping to find its integration with university in order to contribuite raises teaching levels for a better comprehension of regional environmental problems. Research data were collected through questionnaires and interviews with geography teachers analyising theirs activities and perspectives on the environmental crisis and environmental education. The study also offers sugestions for the devellopment of interdisciplinaires programs trying to contibute for the construction of citizenship showing the importance of better comprehension from environmental problems which includes physical, economics, social, political and cultural aspects.

The relationship between physical aspects of quality of life and extreme levels of regular physical activity in adults

This study aimed to check for any significant differences in perceived quality of life, specifically aspects of a physical nature, among volunteers who are more physically active and those less physically active in a university community. The sample consisted of 1,966 volunteers in a university community in Brazil. To assess physical activity levels, volunteers responded to the International Physical Activity Questionnaire (IPAQ), and to analyse the perception of quality of life they responded to WHOQOL-bref, which is classified into three groups according to level of physical activity, taking into account the metabolic equivalent index (MET) over a full week. For comparison, consideration was given to the first and third tertiles, respectively, namely groups of more and less active students. The results indicated that individuals who engaged in more physical activity had a more positive perception of quality of life compared to those who were less active in physical aspects related to the ability to work, energy for day-to-day activities and locomotion.

As relações entre saber e poder em testes psicodiagnósticos a partir de M. Foucault

In this article my main objective is to approach some questions related to the tests used in psychodiagnostics processes of children who are considered as having learning difficulties. Having the book Discipline and Punish (1975/1986) by Foucault as theoretical basis, I intend to investigate the hypothesis that the child is considered ill or abnormal due to the factors related to imposed norms and not to organic aspects and/or neurological pathology. My interest is to analyse the signs that allow us to point out the written language conception of tests. This language is expected and privileged, however it may not be the language that the child uses and experiences every day.

Fatores associados à maior mortalidade e tempo de internação prolongado em uma unidade de terapia intensiva de adultos

OBJECTIVE: The intensive care unit is synonymous of high severity, and its mortality rates are between 5.4 and 33%. With the development of new technologies, a patient can be maintained for long time in the unit, causing high costs, psychological and moral for all involved. This study aimed to evaluate the risk factors for mortality and prolonged length of stay in an adult intensive care unit. METHODS: The study included all patients consecutively admitted to the adult medical/surgical intensive care unit of Hospital das Clínicas da Universidade Estadual de Campinas, for six months. We collected data such as sex, age, diagnosis, personal history, APACHE II score, days of invasive mechanical ventilation orotracheal reintubation, tracheostomy, days of hospitalization in the intensive care unit and discharge or death in the intensive care unit. RESULTS: Were included in the study 401 patients; 59.6% men and 40.4% women, age 53.8±18.0. The mean intensive care unit stay was 8.2±10.8 days, with a mortality rate of 13.5%. Significant data for mortality and prolonged length of stay in intensive care unit (p <0.0001), were: APACHE II>11, OT-Re and tracheostomy. CONCLUSION: The mortality and prolonged length of stay in intensive care unit intensive care unit as risk factors were: APACHE>11, orotracheal reintubation and tracheostomy.

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

Type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing. Here we report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child, who was born from consanguineous parents, and presented with ambiguous genitalia and salt losing. The patient carries a homozygous nucleotide c.665C>A change in exon 4 that putatively substitutes the proline at codon 222 for glutamine. Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations.

Spontaneous puberty in girls with early diagnosis of Turner syndrome

OBJECTIVE: To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. SUBJECTS AND METHODS: Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls aged > 13 years diagnosed at the same service. RESULTS: Sixteen of 32 informative patients had signs of spontaneous puberty, a frequency greater than that of patients diagnosed later. In six patients, there was no progression of puberty; menarche occurred in six, and one became pregnant, but the fetus was a stillborn. Spontaneous puberty was absent in all cases with 45,X karyotype. CONCLUSIONS: The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism. Arq Bras Endocrinol Metab. 2012;56(9):653-7

Aspectos médicos e sociais no atendimento oftalmológico de urgência

Purpose: A survey was carried out on one hundred patients of the Emergency Service of the Ophthalmology Department of the Hospital das Clinicas of the University of Campinas (UNICAMP), in order to analyze the personal characteristics and the barriers against getting resolving ophthalmologic assistance. Variables, were the following: sex, age, home town, average distance between the place of initial symptoms and first visit to the hospital, time spent between the first examination (if performed in any other service) and the examination performed at the Hospital das Clinicas of University of Campinas, diagnosis, veracity of emergency, need to refer patients previously seen in other services to our Service and possibility of assistance and treatment at a secondary level. Methods: The sample showed the following characteristics: distances between 20 and 100 kilometers covered by 50.0% of the patients to be seen at University of Campinas. 75.0% of those patients needed someone to stay with them and 67.0% came from other municipalities. The long distances covered meant additional expenses for the treatment of diseases which should be treated locally. Results: Among the patients referred to University of Campinas by ophthalmologists of other services, 87.5% could have their diseases treated at a secondary level of assistance and 66.7% of real emergencies and 60% of false emergencies took longer than 7 days to reach the emergency room of University of Campinas. This shows the poor infrastructure of secondary services regarding excellence of emergency care and education of patients. Conclusions: We recommend education of general physicians and ophthalmologists for emergency eye care and also the supply of both secondary and tertiary public services or medicare, strategically setup in the whole state of Sao Paulo.

Sensitivity and specificity of machine learning classifiers for glaucoma diagnosis using Spectral Domain OCT and standard automated perimetry

PURPOSE: To evaluate the sensitivity and specificity of machine learning classifiers (MLCs) for glaucoma diagnosis using Spectral Domain OCT (SD-OCT) and standard automated perimetry (SAP). METHODS: Observational cross-sectional study. Sixty two glaucoma patients and 48 healthy individuals were included. All patients underwent a complete ophthalmologic examination, achromatic standard automated perimetry (SAP) and retinal nerve fiber layer (RNFL) imaging with SD-OCT (Cirrus HD-OCT; Carl Zeiss Meditec Inc., Dublin, California). Receiver operating characteristic (ROC) curves were obtained for all SD-OCT parameters and global indices of SAP. Subsequently, the following MLCs were tested using parameters from the SD-OCT and SAP: Bagging (BAG), Naive-Bayes (NB), Multilayer Perceptron (MLP), Radial Basis Function (RBF), Random Forest (RAN), Ensemble Selection (ENS), Classification Tree (CTREE), Ada Boost M1(ADA),Support Vector Machine Linear (SVML) and Support Vector Machine Gaussian (SVMG). Areas under the receiver operating characteristic curves (aROC) obtained for isolated SAP and OCT parameters were compared with MLCs using OCT+SAP data. RESULTS: Combining OCT and SAP data, MLCs' aROCs varied from 0.777(CTREE) to 0.946 (RAN).The best OCT+SAP aROC obtained with RAN (0.946) was significantly larger the best single OCT parameter (p<0.05), but was not significantly different from the aROC obtained with the best single SAP parameter (p=0.19). CONCLUSION: Machine learning classifiers trained on OCT and SAP data can successfully discriminate between healthy and glaucomatous eyes. The combination of OCT and SAP measurements improved the diagnostic accuracy compared with OCT data alone.

Ficomicose (mucormicose) orbito-rino-cerebral: registro de um caso

The case of a 15 years old white man, diabetic in cetoacidosis, with a orbit-rhino-cerebral phycomycosis is reported. The illness had an acute onset and the treatment was iniciated early with Amphotericin-B and unilateral osteotomy of maxillary and ethmoidal sinus. With this treatment the patient did well with residuals of ophtalmoplegia and amaurosis on the right. Interesting investigation aspects are the occluded internal carotid on the same side of the affected orbit and the CAT-SCAN finding of moderated ventricular dilatation (two month after hospital admission). Mycology, pathophysiology, histopathology, clinical aspects, diagnosis and therapy are discussed, comparing the findings of this case with available literature. An increased number of survivors can be expected with earlier recognition and more aggressive therapy. Treatment of the underlying debilitating disease, Amphotericin-B and surgical debridement of necrotic tissue, are frequently necessary such as observed in the case reported. The favorable results ootaineü with the proposed managment are stressed.

Hidrocefalia multiloculada: relato de dois casos

Multiloculated hydrocephalus is a clinicopathological entity consisting of enlarged, loculated ventricles and paraventricular poroencephalic cavities. We present two cases of multiloculated hydrocephalus: one due to infectious process of central nervous system and the other consequent to a congenital malformation. Tomographic aspects of this condition that permit the diagnosis are stressed. The pathophysiology, the management and the prognosis are discussed according to the available literature.

Tratamento clínico da epilepsia resistente

The authors analysed 34 cases of resistant epilepsy (20 males and 14 females, mean age 23 years), treated clinically between February/1984 and May/1986. The patients underwent neurological, neuropsychological, psychological, psychiatric, cerebrospinal fluid, electroencephalographic, tomographic and/or angiographic examination. Most of the patients had complex partial seizures. The etiology was unknown in 19 patients (55.8%), probable neurocysticercosis in 6, perinatal hypoxia in 5, delivery trauma in 3 and probable sequelae of encephalitis in 2 patients. There was a clear past history of infantile febrile convulsion in 2 patients. Most patients received carbamazepine (mean dose 24.5 mg/kg/day), phenytoin (5 mg/kg and valproic acid (28 mg/kg) as monotherapy or in association. Twenty-two patients (64.7%) had more than 80% decrease of the seizure frequency. Nine resistant epilepsy-cases (24.5%) were evaluated as candidates for surgical therapy. The authors concluded that the resistant epilepsy is best managed by a specialised, multidisciplinary team, and pointed out the need of a correct diagnosis of the seizure type, an adequate drug therapy and a good engagement of the patient and his family in the treatment.