WRN Cys1367Arg SNP is not associated with risk and prognosis of gliomas in Southeast Brazil

Werner syndrome (WS) is a premature aging disorder characterized by early onset of symptoms related to normal aging and by a high predisposition to various types of cancer, including gliomas. WS is caused by inherited recessive mutations in the WRN gene, which encodes a helicase considered a caretaker of the genome. Aiming to study the role of WRN Cys1367Arg in glioma susceptibility and oncologic prognosis of patients, we investigated the genotype distribution of this single nucleotide polymorphism in 94 glioma patients and 100 healthy subjects. Comparisons of genotype distributions and allele frequencies did not reveal any significant difference between the groups. Overall and disease-free survival rates were calculated, but no statistically significant difference was observed. Our data suggest that WRN Cys1367Arg SNP is not involved either in susceptibility to developing gliomas or in patient survival, at least in the Brazilian population.

Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage of glycosaminoglycans. This study aimed to investigate the path followed by Brazilian patients from birth to diagnosis. An interview was conducted with patient`s parents or guardians with subsequent review of patient`s medical records. One hundred thirteen patients with MPS were included (MPS I: 18, MPS II: 43, MPS III: 2, MPS IIIB: 3, MPS IIIC: 1, MPS IVA: 15, MPS IVB: 1, MPS VI: 29, MPS VII: 1) from 97 families. Median age at the onset of sings/symptoms was 18 months (MPS I: 18, MPS II: 24, MPS IVA: 8, MPS IV: 8). Skeletal abnormalities (for MPS IVA and MPS VI), joint contracures (for MPS II), and typically first signs/symptoms. Several health professionals were involved in patient`s care as of the onset of symptoms until biochemical diagnosis was established. Median age at diagnosis was 76 months (MPS I: 75, MPS II: 95, MPS IVA: 75, MPS VI: 52). Considering the group as a whole, there was a 4.8-year delay between the onset of signs/symptoms and establishment of the diagnosis. Considering that specific therapies are available for some of these disorders and that early treatment is likely to change more favorably the natural history of the disease, efforts should be made to minimize this delay. We believe that this situation can be improved by measures that both increase awareness of health professionals about MPS and improve access to diagnostic tests. (C) 2008 Wiley-Liss, Inc.

Matemal Concepts and Expectations regarding a Preterm Infant

The objective of the present study was: (a) to identify the concerns, verbally expressed, of 50 mothers regarding their preterm infants (PT) and then compare their verbal expression with those of 25 mothers of full-term infants (FT): and (b) to correlate the mothers` verbal expressions with maternal and infant variables. The following instruments were used to compose and characterize the sample: Structure Clinical Interview for DSM III-R Non-Patient (SCID/NP), State-Trait Anxiety Inventory (STAI), Beck Depression Inventory (BDI), and medical charts. Results showed that there was no difference between groups in term of mothers` expectations and conceptualizations, both groups exhibited predominantly positive expectations and concepts. In comparison with FT mothers, PT mothers verbally expressed more feelings and reactions predominantly negative or conflicting in relation to infant birth. Higher levels of maternal anxiety and depression in the PT Group were correlated with more verbal expressions about negative or conflicting emotions. In addition, lower birth weight, higher neonatal risk and longer length of stay in intensive care nursery of the infants were related with more negative or conflicting concepts by the mothers.

Update in Gynecology and Obstetrics: reviews and databases

There is a considerable body of new information on Gynecology and Obstetrics. To aid in keeping gynecologists updated, renowned periodicals publish review articles. Review articles enable the reader to obtain the best evidence for clinical or research issues from several individual articles. This enables the professional to make clinical decisions in the light of current knowledge. The different types of reviews and database that may be used for the elaboration of reviews are discussed in the present article. It is suggested that future reviews on Gynecology and Obstetrics include articles published in other idioms apart from English and that a larger number of database is researched. Thus, reviews will be not only more inclusive but more representative of the international literature.

Use of the frontal assessment battery in evaluating executive dysfunction in patients with Huntington`s disease

The frontal assessment battery (FAB) is a bedside cognitive scale designed to measure executive functions. Huntington`s disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive dysfunction. The aim of this study was to check the validity of the FAB for the evaluation of cognitive impairment in patients with HD. Forty-one patients diagnosed with HD and 53 healthy controls matched by education, sex and age were evaluated with a validated Brazilian version of the UHDRS, the VFT, the SDMT, the SIT, the MMSE, and the FAB. The diagnosis of HD was made by DNA analysis. FAB scores were lower in patients than in the controls (p < 0.001) and had significant correlations with the VFT (r = 0.79; p < 0.05), the SDMT (r = 0.80; p < 0.05), the SIT (r = 0.72; p < 0.05), the MMSE (r = 0.83; p < 0.05), the FCS (r = 0.79; p < 0.05) and the motor section of the UHDRS (r = -0.80; p < 0.05). The FAB differentiated between HD patients in the initial and later stages of the disease. The one-year longitudinal evaluation revealed a global trend toward a worsening in the second score of the FAB. The results demonstrate that the FAB presents good internal consistency and also convergent and discriminative validity; therefore it is a useful scale to assess executive functions and to evaluate cognitive impairment in patients with HD.

Cannabidiol for the treatment of psychosis in Parkinson`s disease

The management of psychosis in Parkinson`s disease (PD) has been considered a great challenge for clinicians and there is a need for new pharmacological intervention. Previously an antipsychotic and neuroprotective effect of Cannabidiol (CBD) has been suggested. Therefore, the aim of the present study was to directly evaluate for the first time, the efficacy, tolerability and safety of CBD on PD patients with psychotic symptoms. This was an open-label pilot study. Six consecutive outpatients (four men and two women) with the diagnosis of PD and who had psychosis for at least 3 months were selected for the study. All patients received CBD in flexible dose (started with an oral dose of 150 mg/day) for 4 weeks, in addition to their usual therapy. The psychotic symptoms evaluated by the Brief Psychiatric Rating Scale and the Parkinson Psychosis Questionnaire showed a significant decrease under CBD treatment. CBD did not worsen the motor function and decreased the total scores of the Unified Parkinson`s Disease Rating Scale. No adverse effect was observed during the treatment. These preliminary data suggest that CBD may be effective, safe and well tolerated for the treatment of the psychosis in PD.

Validation of the National Institutes of Health Stroke Scale, Modified Rankin Scale and Barthel Index in Brazil: The Role of Cultural Adaptation and Structured Interviewing

Background: We aimed to validate three widely used scales in stroke research in a multiethnic Brazilian population. Methods: The National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS) and Barthel Index (BI) were translated, culturally adapted and applied by two independent investigators. The mRS was applied with or without a previously validated structured interview. Interobserver agreement (kappa statistics) and intraclass correlation coefficients were calculated. Results: 84 patients underwent mRS (56 with and 28 without a structured interview), 57 BI and 62 NIHSS scoring. Intraclass correlation coefficient was 0.902 for NIHSS and 0.967 for BI. For BI, interobserver agreement was good (kappa = 0.70). For mRS, the structured interview improved interobserver agreement (kappa = 0.34 without a structured interview; 0.75 with a structured interview). Conclusion: The NIHSS, BI and mRS show good validity when translated and culturally adapted. Using a structured interview for the mRS improves interobserver concordance rates. Copyright (C) 2008 S. Karger AG, Basel

Spontaneous Blinking in Patients With Graves` Upper Eyelid Retraction

Purpose: To describe spontaneous blink kinematics in Graves` upper eyelid retraction (UER). Methods: The magnetic search coil technique was used to record spontaneous blinks of 15 healthy subjects (aged 23-56 years, 15 eyelids) and 15 patients with Graves` UER (aged 22-62 years, 15 eyelids) during a 5-min period of video observation, and the signals were digitized at 200 Hz (12 bits). Overall, a total of 2,798 blinks were recorded for the controls and 1,860 for the patients. The distance between pupil center and upper eyelid margin in the primary position of gaze (MRD) was measured with the Image J software. Results: The blinking rate of patients was lower than that of control subjects, with a mean (+/-SEM) blinking rate (blinks/min) of 13.0 +/- 1.7 for patients and of 20.0 +/- 2.1 for the controls (t = 2.58, P = 0.016). There were no statistically significant differences in blink amplitude between controls (22.7 +/- 3.1 degrees) and Graves` patients (24.7 +/- 3.3 degrees). However, while only 22% of the blinks performed by controls were smaller than MRD, this rate was 78% for patients. In addition, in blinks larger than 25, patients showed lower down-phase velocity than controls. Conclusions: Patients with Graves` UER show reduced blinks rates and abnormal blink kinematics, which might be related to the development of exposure keratitis in this disease.

Spontaneous Interblink Time Distributions in Patients with Graves` Orbitopathy and Normal Subjects

PURPOSE. To determine the shape of spontaneous interblink time interval distributions obtained in a long observation period in normal subjects and patients with Graves` orbitopathy. METHODS. The magnetic search coil technique was used to register the spontaneous blinking activity during 1 hour of video observation of two groups of 10 subjects each (normal controls aged 27-61 years, mean +/- SD = 46.0 +/- 13.6; patients with Graves` orbitopathy aged 33-61 years, mean +/- SD +/- 46.7 +/- 8.9). The spontaneous blink rate of each subject was calculated for the entire period of observation and for 56 five-minute bins. Histograms of the interblink time interval were plotted for each measurement of blink rate. RESULTS. Neither the overall mean blink rate (controls, 19.8 +/- 4.9; Graves`, 17.6 +/- 5.4) nor the interblink time (controls, 5.2 +/- 3.1, Graves`, 7.9 +/- 3.5) differed between the two groups. There was a large variation of both measurements when the 5-minute bins were considered. The interblink time distribution of all subjects was highly positively skewed when the 1-hour period was measured. A significant number of the 5-minute bin distributions deviated from the overall pattern and became symmetric. CONCLUSIONS. The normal blinking process is characterized by highly positively skewed interblink time distributions. This result means that most blinks have a short time interval, and occasionally a small number of blinks have long time intervals. The different patterns of distribution described in the early literature probably represent artifacts because of the small samples analyzed. (Invest Ophthalmol Vis Sci. 2011;52:3419-3424) DOI:10.1167/iovs.10-7060

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

Sulfite oxidase is a mitochondrial enzyme encoded by the SUOX gene and essential for the detoxification of sulfite which results mainly from the catabolism of sulfur-containing amino acids. Decreased activity of this enzyme can either be due to mutations in the SUOX gene or secondary to defects in the synthesis of its cofactor, the molybdenum cofactor. Defects in the synthesis of the molybdenum cofactor are caused by mutations in one of the genes MOCS1, MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Although present in many ethnic groups, isolated sulfite oxidase deficiency and molybdenum cofactor deficiency are rare inborn errors of metabolism, which makes awareness of key clinical and laboratory features of affected individuals crucial for early diagnosis. We report clinical, radiologic, biochemical and genetic data on a Brazilian and on a Turkish child with sulfite oxidase deficiency due to the isolated defect and impaired synthesis of the molybdenum cofactor, respectively. Both patients presented with early onset seizures and neurological deterioration. They showed no sulfite oxidase activity in fibroblasts and were homozygous for the mutations c.1136A>G in the SUOX gene and c.667insCGA in the MOCS1 gene, respectively. Widely available routine laboratory tests such as assessment of total homocysteine and uric acid are indicated in children with a clinical presentation resembling that of hypoxic ischemic encephalopathy and may help in obtaining a tentative diagnosis locally, which requires confirmation by specialized laboratories. (C) 2009 Published by Elsevier B.V.

Tetrasomy 8 in a patient with chronic lymphocytic leukemia

We report a case of a 47-year-old man diagnosed with chronic lymphocytic leukemia (CLL) with two extra copies of chromosome 8. Classical cytogenetic analysis by the immunostimulatory combination of DSP30 and interleukin 2 showed tetrasomy of chromosome 8 in 60% of the metaphase cells (48,XY,+8,+8[12]/46,XY[8]). Spectral karyotype analysis confirmed the abnormality previously seen by G banding. Additionally, interphase fluorescence in situ hybridization using an LSI CEP 8 probe performed on peripheral blood cells without any stimulant agent showed tetrasomy of chromosome 8 in 54% of analyzed cells (108 of 200). To our knowledge, tetrasomy 8 as the sole chromosomal abnormality in CLL has not been previously described. The prognostic significance of tetrasomy 8 in CLL remains to be elucidated. However, the patient has been followed up in the outpatient hospital since 2004 without any therapeutic intervention and has so far remained stable. (C) 2010 Elsevier Inc. All rights reserved.

Addressing overtreatment in patients with refractory epilepsy at a tertiary referral centre in Brazil

Background. Patients with refractory epilepsy often have impaired quality of life (QOL) as a consequence of seizures and adverse effects of antiepileptic drugs. We assessed the impact of adverse effects on QOL and the utility of a structured instrument to help the physician manage adverse effects in patients with refractory epilepsy. Methods. Clinical characteristics, drug treatment and adverse effects were evaluated in 102 patients with refractory epilepsy at a single tertiary referral centre. The Adverse Events Profile (AEP) and Quality of Life in Epilepsy-31 (QOLIE-31) questionnaires were completed at baseline and after six months. At baseline, patients with a high burden of adverse effects (AEP scores >= 45) were randomized to an intervention or control group. AEP scores in the intervention group were available to the physician as an instrument to help to reduce adverse effects. Results. Ninety-five patients (93.1%) were on polytherapy. Sixty-six completed the questionnaires and, of these, 43 (65.1%) had a high AE burden and were randomized to the intervention and control group. QOLIE-31 scores were inversely correlated with AEP scores at both visits. Among randomized patients, AEP scores tended to decrease between the baseline and the final visit without significant differences between groups (intervention group: 54.1 +/- 6.1 vs 51.1 +/- 9.1; control group: 55.8 +/- 5.8 vs 50.5 +/- 12.2). QOLIE-31 scores did not change substantially between visits (intervention group: 45.9 +/- 17.4 vs 48.4 +/- 14; control group: 47.5 +/- 15.7 vs 45.2 +/- 18.9). Conclusion. A significant proportion of patients had a high toxicity burden which had an impact on their QOL. Reduction of over-treatment is a difficult challenge which cannot be addressed solely by providing a structured assessment of adverse effects, but requires a more comprehensive approach aimed at optimizing the many components of the management strategy.

Spontaneous Eyeblink Activity

Spontaneous blinking is essential for maintaining a healthy ocular surface and clarity of vision. The spontaneous blink rate (SBR) is believed to reflect a complex interaction between peripheral influences mediated by the eye surface and the central dopaminergic activity. The SBR is thus extremely variable and dependent on a variety of psychological and medical conditions. Many different methods have been employed to measure the SBR and the upper eyelid kinematics during a blink movement. Each has its own merits and drawbacks, and the choice of a specific method should be tailored to the specific needs of the investigation. Although the sequence of muscle events that leads to a blink has been fully described, knowledge about the neural control of spontaneous blinking activity is not complete. The tear film is dynamically modified between blinks, and abnormalities of the blink rate have an obvious influence on the ocular surface.

Localization of the Mandibular Canal in Brachycephalic Dogs Using Computed Tomography

For some surgical procedures in veterinary dentistry including exodontia, orthognathic surgery, orthopedic surgery, oncologic surgery, and for the placement of dental implants, it is important to know the accurate location of the neurovascular structures within the mandibular canal. The aim of this research was to determine the course of the mandibular canal in the mandible and its relationship with other anatomical structures in brachycephalic dogs using computerized tomography. Mandibles from 10 brachycephalic cadaver dogs were evaluated. Measurements were taken in relation to the lingual, vestibular alveolar crest, and ventral surfaces. These measurements indicated that the mandibular canal descends slightly from the mandibular foramen to the molar area, decreasing the distance of the mandibular canal from the mandibular ventral border The mandibular canal is slightly closer to the lingual surface than the vestibular surface except in the molar tooth region. The mandibular canal continues in a rostral direction occupying the ventral region of the mandibular body, reaching its maximum distance from the alveolar crest at the level of the first molar and fourth premolar teeth. In the third and fourth premolar tooth region, the mandibular canal maintains a similar distance between the vestibular and lingual borders; then, at the level of the second premolar tooth, the distance of the mandibular canal from the lingual and ventral border increases before its termination at the mental, foramen. The study reported here documents the feasibility of using CT to determine the location of the mandibular canal in relation to bony and dental parameters. Although the difference in mandible size of the group of brachycephalic dogs reported here resulted in broad ranges of measurements, it is clear that the MC course may vary between individual dogs. J Vet Dent 26(3); 156 - 163, 2009

Detection of Rabies Virus Antibodies in Brazilian Free-Ranging Wild Carnivores

Rabies virus is a pathogen of major concern in free-ranging wild carnivores in several regions of the world, but little is known about its circulation in Brazilian wild carnivores. Sera from 211 free-ranging wild carnivores, captured from 2000 to 2006 in four locations of two Brazilian biomes (Pantanal and Cerrado), were tested for rabies antibodies. Twenty-six individuals (12.3%) had neutralizing antibody titers >= 0.10 IU/ml. The four sampled locations had antibody-positive animals, suggesting that Rabies virus circulates in all of these regions. Results underscore the risk posed by rabies for conservation of Brazilian carnivores and the possibility of the animals acting as reservoirs for the Rabies virus.