Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3

The spinal muscular atrophies (SMA) or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1) to the respective locus that was mapped to a 14.5 cM region on chromosome 20q13.2-13.3 by genetic linkage analysis and haplotype studies using microsatellite polymorphic markers. This locus lies between markers D20S120 and D20S173 showing a maximum LOD score of 4.6 at D20S171, defining a region with 33 known genes, including several potential candidates. Identifying the SMAN1 gene should not only improve our understanding of the molecular mechanisms underlying lower motor neuron diseases but also help to clarify the relationship between motor and autonomic neurons.

Transpondo limites com doadores falecidos: transplantes bem-sucedidos com rins de doador com creatinina sérica igual a 13,1 mg/dL

Doadores falecidos não limítrofes com insuficiência renal aguda podem ser uma opção segura para aumentar a oferta de rins para transplante. A avaliação histológica é fundamental para o estabelecimento do prognóstico funcional desses enxertos. Dois transplantes renais foram realizados com rins provenientes de um doador falecido jovem com insuficiência renal aguda severa sem comprometimento estrutural do parênquima renal. Ambos os enxertos apresentaram atraso de funcionamento no período pós-operatório, embora um deles com boa diurese inicial não tenha necessitado diálise. Função renal adequada foi observada a partir do 30º dia após o transplante. A insuficiência renal aguda severa no doador falecido não é fator de risco independente para a evolução em curto prazo do enxerto renal e não deve ser considerada contra-indicação absoluta para a realização do transplante.

Eritroplasia e leucoeritroplasia oral: análise retrospectiva de 13 casos

Eritroplasia e leucoeritroplasia são lesões orais cancerizáveis com elevado potencial de transformação maligna. OBJETIVOS: Neste estudo retrospectivo foram analisadas as características clínico-patológicas de 13 casos de eritroplasias e leucoeritroplasias orais de pacientes atendidos em um Serviço especializado em Estomatologia e diagnóstico histopatológico. MATERIAL E MÉTODO: Foram revisados os registros de biópsia de pacientes atendidos entre os anos de 1978 e 2006. Foram registradas e características clínicas e histopatológicas das lesões, bem como sexo, idade dos pacientes e associação com fatores de risco. RESULTADOS: As lesões exibiram predileção por pacientes do sexo masculino na proporção de 1:3.3. A média etária dos indivíduos foi de 57 anos e o palato mole foi o sítio envolvido em 77% dos casos. Sintomatologia dolorosa foi relatada por 61,5% dos pacientes e associação com tabagismo e etilismo foi observada em 100% e em 46% dos casos, respectivamente. As lesões analisadas exibiam displasia epitelial e mais de 50% foram diagnosticadas como carcinoma in situ ou carcinoma invasivo. CONCLUSÕES: Apesar de apresentarem baixa prevalência, as eritroplasias homogêneas e as leucoplasias salpicadas exibem alterações epiteliais que vão de displasia epitelial a carcinoma invasivo, o que justifica sua inclusão entre as lesões bucais com maior potencial de malignização.

Servicio civil en Chile, análisis de los directivos de primer nivel jerárquico (2003-13)

Resumen Este artículo analiza los principales factores que condicionan la selección de un directivo público de primer nivel jerárquico en Chile con base en una perspectiva de corte sociológico y el uso del concepto especies de capital. El trabajo realiza un recorrido teórico y descriptivo sobre la modernización del Estado y la profesionalización de la gestión pública en Chile. Posteriormente con una muestra de 45 casos correspondientes a altos directivos nombrados durante el período 2003-13, se trabaja con modelos de regresión logística para determinar los factores que condicionan la selección de estos funcionarios. Se llega a la conclusión que el capital político no es un factor que favorece la selección del actor.

Uso de cigarros entre adolescentes de uma escola de 1º grau da cidade de São Paulo, Brasil

Foi realizado estudo em uma escola de 1° grau da rede estadual de ensino da cidade de São Paulo (Brasil), com o objetivo de investigar o hábito de fumar cigarros entre adolescentes de 5ª a 8ª série, mediante a aplicação de um questionário a um total de 1.001 adolescentes. Os resultados mostraram que o hábito de fumar cigarros é bastante difundido entre os adolescentes, aumentando proporcionalmente da 5ª para a 8ª série. O maior aumento na proporção de fumantes foi verificado da 6ª para a 7ª série (8,3% para 21,5%). Observou-se que o hábito de fumar dos adolescentes atingiu, no grupo etário de 16 anos, proporções semelhantes às dos adultos, e que o hábito de fumar cigarros levou, em média, aproximadamente dois anos para se estabelecer entre os adolescentes investigados.

Concentrações sangüíneas de metais pesados e praguicidas organoclorados em crianças de 1 a 10 anos

Foi realizado estudo em 6 bairros do Município de Cubatão, SP, Brasil, situados às margens dos principais rios do município, com uma amostragem de 251 crianças de 1 a 10 anos de idade. Foram verificadas as concentrações sangüíneas de praguicidas organoclorados em 242 crianças, sendo que 73 crianças (30%) apresentaram concentrações de p-p'DDE (média = 0,85 ± 2,13 µg/l.), e em 47 crianças (19%) foi encontrado HCH total (média = 0,28 ± 0,79 µg/l.). Verificou-se também a concentração sangüínea de chumbo e mercúrio, sendo que se obteve a plumbemia média de 17,8 ± 5,8 µg/dl. e concentração média de mercúrio de 9,1 ± 6,4 µg/l. Crianças consumidoras de organismos aquáticos de origem exclusiva dos rios de Cubatão apresentaram teores médios de mercúrio (média = 14,7 ±7,1 µg/l.) significativamente maiores (p < 0,04) em comparação às crianças não consumidoras de organismos aquáticos de qualquer origem (média = 10,0 ± 6,5 µg/l.).

Prevalência de asma e sintomas asmáticos em escolares de 13 e 14 anos de idade

OBJETIVO: Antes do uso do questionário padronizado ISAAC (International Study of Asthma and Allergies in Childhood) em inquéritos epidemiológicos, pouco se conhecia sobre a ocorrência comparativa de asma no mundo, dados os diferentes métodos empregados. No Brasil, outros estudos utilizaram o questionário ISAAC em regiões urbanas. Realizou-se estudo utilizando esse questionário nas zonas urbana e rural com o objetivo de estimar a prevalência de asma em escolares. MÉTODOS: Estudo transversal com o questionário escrito ISAAC, acrescido de perguntas sobre exposições de interesse, auto-aplicado em 3.770 escolares de 13 e 14 anos de idade do município de Montes Claros (MG) selecionados por sorteio. RESULTADOS: A prevalência de "sibilos no último ano" foi 15,8%, e de "asma ou bronquite alguma vez na vida" 23,8%, sem diferença significativa entre sexos. Houve diferença estatística (p<0,05) entre sexos (feminino e masculino, respectivamente) em "sibilos alguma vez na vida" (37,8% e 33,6%), "sono alterado devido à crise de sibilos" (13,7% e 9,5%) e "tosse seca noturna sem infecção respiratória" (36,6% e 28,7%). Houve associação nociva entre "sibilos no último ano", "contato com animais domésticos" (OR=1,27; IC 95%: 1,03-1,56) e "história familiar de asma" (OR=1,79; IC 95%: 1,50-2,14), e associação protetora entre "sibilos no último ano" e "localização rural da escola" (OR=0,63; IC 95%: 0,44-0,91), mas não houve associação com sexo, idade, domínio escolar e tabagismo passivo. CONCLUSÕES: A prevalência de asma na amostra estudada foi elevada, com alguns sintomas predominantes no sexo feminino. A ocorrência de "sibilos no último ano" mostrou-se associada à história familiar, contato com animais domésticos e localização urbana das escolas.

Drug use in college students: a 13-year trend

OBJECTIVE: To analyze drug use trends among college students in 1996, 2001 and 2009. METHODS: A cross-sectional epidemiological study with a multistage stratified cluster sample with 9,974 college students was conducted in the city of São Paulo, southeastern Brazil. An anonymous self-administered questionnaire was used to collect information on drug use assessed in lifetime, the preceding 12 months and the preceding 30 days. The Bonferroni correction was used for multiple comparisons of drug use rates between surveys. RESULTS: There were changes in the lifetime use of tobacco and some other drugs (hallucinogens [6.1% to 8.8%], amphetamines [4.6% to 8.7%], and tranquilizers [5.7% to 8.2%]) from 1996 to 2009. Differences in the use of other drugs over the 12 months preceding the survey were also seen: reduced use of inhalants [9.0% to 4.8%] and increased use of amphetamines [2.4% to 4.8%]. There was a reduction in alcohol [72.9% to 62.1%], tobacco [21.3% to 17.2%] and marijuana [15.0% to 11.5%] use and an increase in amphetamine use [1.9% to 3.3%] in the preceeding 30 days. CONCLUSIONS: Over the 13-year study period, there was an increase in lifetime use of tobacco, hallucinogens, amphetamines, and tranquilizers. There was an increase in amphetamine use and a reduction in alcohol use during the preceding 12 months. There was an increase in amphetamine use during the preceding 30 days.

Relevant prevalence of Mycoplasma hominis and Ureaplasma urealyticum serogroups in HIV-1 infected men without urethritis symptoms

M. hominis and U. urealyticum are the better-known mycoplasma species pathogenic to the human genitourinary tract, causing mainly urethritis, bacterial vaginosis and pregnancy complications. In HIV-infected patients, the prevalence and role of these species is still not well known. The aim of this work was to determinate the prevalence of these species in this group of male patients (HIV group), in comparison to a group of men with clinical symptoms of urethritis (STD group). M. hominis was isolated from 7.5% patients (8/106) and U. urealyticum from 18.9% patients (20/106) from the HIV group, being among these 62.5% and 85% in significant concentrations, respectively. In the STD group these rates were 0.9% (1/110) for M. hominis and 13.6% (15/110) for U. urealyticum, being 100% and 93.3% in significant concentrations, respectively. We could demonstrate infection rates by these mycoplasma species in the HIV group as high as the one found in the STD one, what may indicate the occurrence of opportunistic infections in our population. This fact is discussed here because in immunosuppressed patients, specially M. hominis has been reported causing severe infections, even systemically.

Bacillary angiomatosis: description of 13 cases reported in five reference centers for AIDS treatment in Rio de Janeiro, Brazil

The aim of this case series was to describe the clinical, laboratory and epidemiological characteristics and the presentation of bacillary angiomatosis cases (and/or parenchymal bacillary peliosis) that were identified in five public hospitals of Rio de Janeiro state between 1990 and 1997; these cases were compared with those previously described in the medical literature. Thirteen case-patients were enrolled in the study; the median age was 39 years and all patients were male. All patients were human immunodeficiency virus type 1 (HIV-1) infected and they had previous or concomitant HIV-associated opportunistic infections or malignancies diagnosed at the time bacillary angiomatosis was diagnosed. Median T4 helper lymphocyte counts of patients was 96 cells per mm³. Cutaneous involvement was the most common clinical manifestation of bacillary angiomatosis in this study. Clinical remission following appropriate treatment was more common in our case series than that reported in the medical literature, while the incidence of relapse was similar. The frequency of bacillary angiomatosis in HIV patients calculated from two of the hospitals included in our study was 1.42 cases per 1000 patients, similar to the frequencies reported in the medical literature. Bacillary angiomatosis is an unusual opportunistic pathogen in our setting.

Clinical and epidemiological aspects of HTLV-II infection in São Paulo, Brazil: presence of Tropical Spastic Paraparesis/HTLV-Associated Myelopathy (TSP/HAM) simile diagnosis in HIV-1-co-infected subjects

In this study, the epidemiological and clinical features observed in solely HTLV-II-infected individuals were compared to those in patients co-infected with HIV-1. A total of 380 subjects attended at the HTLV Out-Patient Clinic in the Institute of Infectious Diseases "Emilio Ribas" (IIER), São Paulo, Brazil, were evaluated every 3-6 months for the last seven years by infectious disease specialists and neurologists. Using a testing algorithm that employs the enzyme immuno assay, Western Blot and polymerase chain reaction, it was found that 201 (53%) were HTLV-I positive and 50 (13%) were infected with HTLV-II. Thirty-seven (74%) of the HTLV-II reactors were co-infected with HIV-1. Of the 13 (26%) solely HTLV-II-infected subjects, urinary tract infection was diagnosed in three (23%), one case of skin vasculitis (8%) and two cases of lumbar pain and erectile dysfunction (15%), but none myelopathy case was observed. Among 37 co-infected with HIV-1, four cases (10%) presented with tropical spastic paraparesis/HTLV-associated myelopathy (TSP/HAM) simile. Two patients showed paraparesis as the initial symptom, two cases first presented with vesical and erectile disturbances, peripheral neuropathies were observed in other five patients (13%), and seven (19%) patients showed some neurological signal or symptoms, most of them with lumbar pain (five cases). The results obtained suggest that neurological manifestations may be more frequent in HTLV-II/HIV-1-infected subjects than those infected with HTLV-II only.

Alterations in lipid transfer to High-Density Lipoprotein (HDL) and activity of paraoxonase-1 in HIV+ patients

HIV+ patients often develop alterations of the plasma lipids that may implicate in development of premature coronary artery disease. High-density lipoprotein (HDL) has an important role in preventing atherogenesis and the aim of this study was to investigate aspects of HDL function in HIV+ patients. HIV+ patients (n = 48) and healthy control subjects (n = 45) of both sexes with similar age were studied. Twenty-five were not being treated with antiretroviral agents, 13 were under reverse transcriptase inhibitor nucleosidic and non-nucleosidic (NRTI+NNRTI) and 10 were under NRTI + protease inhibitors (NRTI+PI) treatment. Paraoxonase 1 (PON1) activity and the transfer of free and esterified cholesterol, tryglicerides and phospholipids from a lipidic nanoemulsion to HDL were analyzed. In comparison with healthy controls, HIV+ patients presented low PON-1 activity and diminished transfer of free cholesterol and tryglicerides. In contrast, phospholipid transfer was increased in those patients, whereas the transfer of cholesteryl esters was unchanged. NRTI+NNRTI increases the transfer of cholesteryl esters and triglycerides but in NRTI+PI there was no difference in respect to non-treated HIV+ patients. HDL from HIV+ patients has smaller antioxidant properties, as shown by lower PON-1 activity, and the transfer of lipids to this lipoprotein fraction is also altered, suggesting that HDL function is defective in those patients.

Neurologic cytomegalovirus complications in patients with AIDS: retrospective review of 13 cases and review of the literature

Neurological disorders caused by Cytomegalovirus (CMV) in patients with Acquired Immunodeficiency Syndrome (AIDS) are rarely reported in the Highly Active Antiretroviral Therapy (HAART) period. The objective of this study was to describe the main clinical and laboratory features of patients with CMV-related neurological complications in HIV-infected patients admitted to a referral center in São Paulo, Brazil. CMV disease requires the identification of the virus in the cerebrospinal fluid (CSF) using Polymerase Chain Reaction (PCR). Thirteen cases were identified between January, 2004 and December, 2008. The median age of patients was 38 years and nine (69%) were men. At admission all patients were aware of their HIV status and only four (31%) patients were on HAART. Patients who were not on antiretroviral therapy before admission received HAART while inpatients. CMV disease was the first AIDS-defining illness in eight (62%) patients. The neurologic syndromes identified were diffuse encephalitis (n = 7; 62%), polyradiculopathy (n = 7; 54%), focal encephalitis (rhombencephalitis) (n = 1; 8%), and ventriculo-encephalitis (n = 1; 8%). Seven (54%) patients presented extra-neural CMV disease and four (31%) had retinitis. The median of CD4+ T-cell count was 13 cells/µL (range: 1-124 cells/µL). Overall in-hospital mortality was 38%. Eight patients used ganciclovir or foscarnet (in-hospital mortality: 50%) and five patients used ganciclovir and foscarnet (in-hospital mortality: 20%). None of the patients fulfilled the diagnosis criteria of immune reconstitution inflammatory syndrome. Four patients were lost to follow-up, and three patients presented immune recovery and discontinued secondary prophylaxis. Although infrequent, distinct neurological syndromes caused by CMV continue to cause high mortality among AIDS patients. Survival depends upon the use of effective antiviral therapy against CMV and the early introduction of HAART.

HTLV-1/2 seroprevalence and coinfection rate in Brazilian first-time blood donors: an 11-year follow-up

The seroprevalence and geographic distribution of HTLV-1/2 among blood donors are extremely important to transfusion services. We evaluated the seroprevalence of HTLV-1/2 infection among first-time blood donor candidates in Ribeirão Preto city and region. From January 2000 to December 2010, 1,038,489 blood donations were obtained and 301,470 were first-time blood donations. All samples were screened with serological tests for HTLV-1/2 using enzyme immunoassay (EIA). In addition, the frequency of coinfection with hepatitis B virus (HBV), hepatitis C virus (HCV), human immunodeficiency virus (HIV), Chagas disease (CD) and syphilis was also determined. In-house PCR was used as confirmatory test for HTLV-1/2. A total of 296 (0.1%) first-time donors were serologically reactive for HTLV-1/2. Confirmatory PCR of 63 samples showed that 28 were HTLV-1 positive, 13 HTLV-2 positive, 19 negative and three indeterminate. Regarding HTLV coinfection rates, the most prevalent was with HBV (51.3%) and HCV (35.9%), but coinfection with HIV, CD and syphilis was also detected. The real number of HTLV-infected individual and coinfection rate in the population is underestimated and epidemiological studies like ours are very informative.

Genetic diversity and primary resistance among HIV-1-positive patients from Maringá, Paraná, Brazil

The objective of this study is to identify subtypes of Human Immunodeficiency Virus type 1 (HIV-1) and to analyze the presence of mutations associated to antiretroviral resistance in the protease (PR) and reverse transcriptase (RT) regions from 48 HIV-1 positive treatment naïve patients from an outpatient clinic in Maringá, Paraná, Brazil. Sequencing was conducted using PR, partial RT and group-specific antigen gene (gag) nested PCR products from retrotranscribed RNA. Transmitted resistance was determined according to the Surveillance Drug Resistance Mutation List (SDRM) algorithm. Phylogenetic and SimPlot analysis of concatenated genetic segments classified sequences as subtype B 19/48 (39.6%), subtype C 12/48 (25%), subtype F 4/48 (8.3%), with 13/48 (27.1%) recombinant forms. Most recombinant forms were B mosaics (B/F 12.5%, B/C 10.4%), with one C/F (2.1%) and one complex B/C/F mosaic (2.1%). Low levels of transmitted resistance were found in this study, 2/48 (2.1% to NRTIs and 2.1% for PI). This preliminary data may subsidize the monitoring of the HIV evolution in the region.