Cerebrovascular disease in newborn infants: report of three cases with clinical follow-up and brain spect imaging

The clinical and neurological findings of three neonates with the diagnosis of cerebrovascular disease are reported. The neuropsychological evaluation disclosed impairment of fine motor function, coordination, language, perception and behavioral disturbances. Brain SPECT imaging revealed perfusional deficits in the three cases.

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.

Fibrodysplasia ossificans progressiva: case report

Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Machado-Joseph disease versus hereditary spastic paraplegia: case report

Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

Whipple's disease with neurological manifestions: case report

Whipple's disease (WD) is an uncommon multisystem condition caused by the bacillus Tropheryma whipplei. Central nervous system involvement is a classical feature of the disease observed in 20 to 40% of the patients. We report the case of a 62 yeards old man with WD that developed neurological manifestations during its course, and discuss the most usual signs and symptoms focusing on recent diagnostic criteria and novel treatment regimens.

Produção de micropartículas de alginato contendo Flavobacterium columnare inativada pelo método de emulsão para vacinação de peixes por via oral

Alginate microparticles were prepared by an emulsion method aiming oral controlled release of antigens to fish. The effects of emulsification temperature and impeller type on particle morphology, average diameter, and size distribution were evaluated. Microparticles contaning formalin-killed Flavobacterium columnare cells (a model antigen) were prepared and characterized regarding bacterial release and particle stability when exposed to Nile tilapia (Oreochromis niloticus) typical gastrointestinal conditions. This methodology allowed the production of microparticles containing up to 14.3 g/L of bacterin, stable at a pH range from 2.0 to 9.0 for 12 h and smaller than 35 μm.

Mães ouvintes com filhos surdos: concepção de surdez e escolha da modalidade de linguagem

The aim of this study was to analyze the conceptions that hearing mothers of deaf children have about deafness and relate it to the language mode used by the mother and the child. We interviewed 10 mothers of deaf children, five of whom were prescholars and five of school age. The content was analyzed as to thematic and category types, with emphasis on the categories conception of deafness and choice of language mode . Data analysis showed that one mother seems to see deafness as a disease, another as a difference and the other mothers were found to be somewhere between these two views. In relation to the preferred language mode, half the mothers reported that their children predominantly use signs, the other half uses speech and signs, with the exception of one child who uses only speech. The child whose mother acts as if deafness is a disease uses speech while another one whose mother acts as if deafness is a difference uses speech as well as signs.

Comparative analysis of adverse events between infliximab and adalimumab in Crohn's disease management: a Brazilian single-centre experience

INTRODUCTION: Data is scarce regarding adverse events (AE) of biological therapy used in the management of Crohn's Disease (CD) among Brazilian patients. OBJECTIVES: To analyse AE prevalence and profile in patients with CD treated with Infliximab (IFX) or Adalimumab (ADA) and to verify whether there are differences between the two drugs. METHOD: Retrospective observational single-centre study of CD patients on biological therapy. Variables analysed: Demographic data, Montreal classification, biological agent administered, treatment duration, presence and type of AE and the need for treatment interruption. RESULTS: Forty-nine patients were analysed, 25 treated with ADA and 24 with IFX. The groups were homogeneous in relation to the variables studied. The average follow-up period for the group treated with ADA was 19.3 months and 21.8 months for the IFX group (p = 0.585). Overall, 40% (n = 10) of patients taking ADA had AE compared with 50% (n = 12) of IFX users (p = 0.571). There was a tendency towards higher incidence of cutaneous and infusion reactions in the IFX group and higher incidence of infections in the ADA treated group, although without significant difference. CONCLUSIONS: No difference was found in the AE prevalence and profile between ADA and IFX CD patients in the population studied.

Estudo da circulação retrobulbar e do campo visual após dose única oral de citrato de sildenafil (Viagra®)

Purpose: To analyze the effects of 100 mg of sildenafil citrate (Viagra®) on the retrobulbar circulation and visual field. Methods: A double masked, placebo controlled study was conducted in 10 males with a mean age of 27.7 + 5.68 years. The right eye of each volunteer underwent orbital color Doppler imaging and automated perimetry (Humphrey, program 30-2, Full-Threshold Strategy) at 3 occasions: baseline, 1 hour after placebo and 1 hour after 100 mg of sildenafil. The foveal threshold and the mean deviation (MD) were analyzed by automated perimetry on the three occasions. Color Doppler imaging allowed the measurement of the peak systolic velocity (PSV), end diastolic velocity (EDV) and Pourcelot index (PI) in the central retinal artery and ophthalmic artery. Results: The foveal threshold and the mean deviation did not show a significant change following the administration of sildenafil. The ophthalmic artery peak systolic velocity and end diastolic velocity significantly increased after the administration of sildenafil (p<0.001). The hemodynamic parameters in the central retinal artery and the ophthalmic artery PI did not significantly change. Conclusions: Sildefanil citrate increased the blood flow velocities in the ophthalmic artery in normal subjects, with no significant changes in the foveal threshold and mean deviation in the automated perimetry.

Dry eye disease caused by viral infection: review

Dry eye disease and ocular surface disorders may be caused or worsened by viral agents. There are several known and suspected virus associated to ocular surface diseases. The possible pathogenic mechanisms for virus-related dry eye disease are presented herein. This review serves to reinforce the importance of ophthalmologists as one of the healthcare professional able to diagnose a potentially large number of infected patients with high prevalent viral agents.

Ginastica artistica feminina e historia oral : a formação desportiva de ginastas brasileiras participantes de jogos olimpicos (1980-2004)

Universidade Estadual de Campinas . Faculdade de Educação Física

Metabolismo de lipoproteinas plasmaticas em fumantes cronicos sob o efeito agudo do fumo

Universidade Estadual de Campinas . Faculdade de Educação Física

Oral health conditions among the elderly in Southeastern São Paulo State

OBJECTIVE: This study aimed to asses oral health conditions in a population aged 60 years and over living in Botucatu, Southeastern Brazil. A cross-sectional population-based study was carried out using a random sample (N=372) of the urban population aged 60 years and over from the city of Botucatu, in 2005. World Health Organization criteria and codes for oral health epidemiological surveys were used. Re-examination was carried out in 10% of individuals aiming to evaluate intra-examiner agreement. Statistical analysis was performed by one-way ANOVA or Kruskal-Wallis ANOVA, as applicable. Also, the t-test was used in the absence of homoscedasticity. Fisher's exact test was used for situations where the categories with less than five units were observed. Adjusted residuals and multiple-comparison analysis were conducted to identify associations between variable categories and subgroups. The intra-examiner agreement was 98% and Kappa statistics result was 0.95. Loss component represented 90.68% of DMF-T index, which was 29.85. The prevalence of edentulism was 63.17%. Upper and lower dentures were found in 80% and 58% respectively, with complete denture as the most commonly used. In those studied, 15% required upper and 38% lower dentures. There was more need for complete denture in both jaws. Approximately 20% had soft tissue alterations. For periodontal conditions, most sextants were excluded (81.81%). Periodontal pockets (4 - 5 mm) were seen in 11.29% of the examined individuals. The oral health status of the elderly population in Botucatu is poor, as well as in other Brazilian cities. The results of this study may help planning collective health actions, giving an accurate description of the oral problems among the elderly.

Educação e motivação em saúde bucal: prevenindo doenças e promovendo saúde em pacientes sob tratamento ortodôntico

INTRODUÇãO: os cirurgiões-dentistas têm a responsabilidade de prevenir doenças, minimizar riscos e promover saúde. Os pacientes também precisam ser despertados sobre o seu papel nos cuidados com a saúde bucal. No caso de pacientes em tratamento ortodôntico, é particularmente difícil manter uma higiene bucal satisfatória devido à presença de bandas, fios e ligaduras. Torna-se, então, indispensável a instituição de métodos preventivos de motivação e orientação para o controle mecânico da placa dentária. OBJETIVO: verificar os efeitos de ações educativas, preventivas e motivacionais sobre a saúde bucal de pacientes em tratamento ortodôntico fixo. MéTODOS: os participantes receberam gratuitamente dentifrício e escova dental durante todo o estudo e instruções sobre higiene bucal foram fornecidas e reforçadas no decorrer dos 6 meses da pesquisa. Foram realizados exames clínicos baseline e após 6, 12 e 24 semanas, para verificação dos índices de Placa, Gengival e Sangramento. RESULTADOS: as condições de saúde bucal dos participantes, que inicialmente eram insatisfatórias, melhoraram significativamente no decorrer do estudo, considerando-se todos os índices. As ações preventivas, educativas e motivacionais realizadas foram estatisticamente eficazes na melhora da saúde bucal dos pacientes ortodônticos. CONCLUSõES: a promoção de saúde e a prevenção de doenças devem fazer parte do atendimento que os ortodontistas direcionam aos seus pacientes, sendo que a orientação e motivação quanto aos cuidados com a saúde bucal devem estar presentes antes e durante o tratamento.