Neighborhood food environment and consumption of fruit and leafy vegetables: Pro-Saude Study, Brazil.

OBJECTIVE: To explore the relationship between availability of different types of retail food stores and consumption of fruit and leafy vegetables. STUDY DESIGN: This study is a cross-sectional study. METHODS: Data were derived from 2032 adults living in the city of Rio de Janeiro, Brazil, participating in the longitudinal Pro-Saude Study. Exposure to street markets, fruit and vegetable stores, groceries and markets, unhealthy food outlets, restaurants, and supermarkets within 1600 m buffers was obtained by georeferencing residential addresses. Consumption of fruit and leafy vegetables was assessed via two single questions, categorized as 'yes' (≥4 days/week) and 'no' (<3 days/week). Multiple logistic regression models were used to assess relationships of interest adjusted for surrounding average monthly income, sex, age, education, and family income per capita. RESULTS: Except for supermarkets, the presence of a greater number of retail food stores - irrespective of the type - was associated with higher odds of consumption of fruit and leafy vegetables than with areas with a lower number (e.g. odds ratio = 1.47; 95% confidence interval = 1.13-1.91). CONCLUSIONS: The greater availability of several types of retail food stores close to participants' residences was associated with higher consumption of fruit and leafy vegetables in Rio de Janeiro.

Cetuximab has an inhibitory effect on cell motility in SCC-4 oral squamous cell carcinoma cell line.

Cetuximab is a chimeric monoclonal antibody that acts as a competitive antagonist, by binding to EGFR. This cell signalling pathways regulates tumor progression. The oral squamous cell carcinoma undergoes to regional spreading and distant metastasis. This study aimed to evaluate the effect of treatment with Cetuximab on cell migration and invasion in OSCC cells, by using the SCC-4 cell line. Cell migration and cell invasion assay were performed and actin cytoskeleton of control and treated with Cetuximab cells were evaluated. Differences were considered significant when p<0.05.Cetuximab inhibited the migration of SCC-4 cells at three concentrations: 1 µg/mL, 50 µg/mL and 100 µg/mL (p<0.0001) in a dose-dependent manner. The number of SCC-4 treated cells with 1 µg/mL that migrated through the membrane was statistically different from 50 µg/mL (p<0.001) and 100 µg/mL (p<0.0001), and between 50 µg/mL and 100 µg/mL (p<0.01). Cetuximab 50 µg/mL inhibited cell invasion through the MatrigelTM compared with SCC-4 control cells (p<0.01). Cetuximab 50 µg/mL affected the organization of the actin cytoskeleton. Cetuximab has an inhibitory effect on actin cytoskeleton organization, cell migration and invasion, suggesting that Cetuximab treatment can be important to avoid oral squamous cell carcinoma metastasis.

Genotype x environment interaction and stability of soybean cultivars for vegetative-stage characters.

In order to obtain the certificate of cultivar protection, it is necessary to prove its distinctiveness, homogeneity, and stability. Currently, there are 37 descriptors for differentiating soybeans cultivars. However, they are still not enough and, as a result, it is necessary to create, identify, and evaluate new descriptors. This study was aimed at evaluating the genotypic and environment interaction (GxE) and determining the stability of eight soybean cultivars for five vegetative-stage descriptors. The research was done in a greenhouse of the Soybean Breeding and Genetic Studies Program of Universidade Federal de Uberlândia. The treatments were composed of eight soybean cultivars, sown in two different growing seasons (January 25, 2014 and November 27, 2014). The experiments were carried out in randomized complete blocks with three replications and each experimental plot consisted of one pot with four soybean plants. The characters evaluated were: length of hypocotyl (LH), length of epicotyl (LE), length of unifoliolate leaf petiole (LUP), length of first trifoliate leaf petiole (LTLP), and rachis length of terminal leaflet of the first trifoliate leaf (RL). The data achieved from the trials were undergone genetic-statistical analyses by the GENES software. For all analyzed characters, the existence of genetic variability was observed emphasizing the vegetative-stage descriptors' utility to differentiate soybean cultivars. The occurrence of GxE interaction was detected for all characters assessed, mainly of complex nature, except by RL, which was of simple nature. The most stable cultivars for the vegetative-stage descriptors analysed were UFUS 7415 and UFUS Impacta.

Phenotypic and genotypic correlations between soybean agronomic traits and path analysis.

The goals of this research were to evaluate the phenotypic and genotypic correlations between agronomic traits, to perform path analysis, having as main character grain yield, and to identify indirect selection criteria for grain yield. The experiment was carried out in an experimental area located at Capim Branco farm, which belongs to Federal University of Uberlândia, during the growing season of 2015/2016.Twenty-four soybean genotypes were evaluated under randomized complete block design with three repetitions, of which agronomic traits and grain yield were measured. There was genetic variability for all traits at 5% probability level through the F-test. Thirty significant phenotypic correlations were also observed with values oscillating from 0.42 to 0.87, which indicated a high level of association between some evaluated traits. Additionally, we verified that phenotypic and genotypic correlations were essential of the same direction, being the genotypic ones of superior magnitudes. Plants with superior vegetative cycle had longer life cycles; this fact could be explained by the significant phenotypic correlations between the number of days to the blooming and number of days to maturity (0.76). Significantly positive phenotypic and genotypic correlations for the total number of pods per plant and grain yield per plant (0.84) were observed. Through the path analysis, the trait that contributed the most over grain yield was the number of pods with three seeds as it showed the highest direct effect on grain yield per plant, as well as a strong indirect effect on the total number of pods. Therefore, the phenotypic and genotypic correlations suggested high correlations between grain yield and number of branched nodes, the number of pods with two and three seeds, and the total number of pods. Also, the path analysis determined the number of pods with three seeds as having the highest favorable effect on grain yield, and thus, being useful for indirect selection toward productive soybean genotypes.

Dairy cows change locomotion score and sensitivity to pain with trimming and infectious or non-infectious lesions.

Lameness can negatively affect production, but there is still controversy about the perception of pain in dairy cows. This study aimed to verify the effects of hoof affections in dairy cows on locomotion score, physiological attributes, pressure nociceptive threshold, and thermographic variables, as well as assess improvement on these variables after corrective trimming and treatment. Thirty-four lame lactating cows were gait-scored, and all cows with locomotion score ≥4 were retained for this study 1 day before trimming. Lame cows were diagnosed, pressure nociceptive threshold at sound, and affected hooves were measured, thermographic images were recorded, and physiological attributes were evaluated. Hooves with lesions were trimmed and treated and cows were re-evaluated 1 week after such procedures. The experimental design was a completely randomized design. Each cow was considered an experimental unit and traits were analyzed using paired t test, linear correlation, and linear regression. Digital and interdigital dermatitis were classified as infectious diseases while laminitis sequels, sole ulcers, and white line were classified as non-infectious diseases. After 1 week, the locomotion score was reduced on average in 1.5 points. Trimming increased the pressure nociceptive threshold for cows with non-infectious affections while tended to increase the pressure nociceptive threshold for cows with infectious affections. Physiological attributes and thermographic values did not change with trimming. Trimming and treatment have benefic effects on animal welfare as gait is improved and sensitivity to pain is reduced.

Clinical and histopathological features of myocarditis in dogs with visceral leishmaniasis / Aspectos clínicos e histopatológicos da miocardite em cães com leishmaniose visceral

Visceral leishmaniasis (VL) is a cosmopolitan parasitic zoonosis that can promote myocarditis and heart rate changes in canine and human hosts. Thus, histopathological aspects of the myocardium and clinical, hematological, biochemical, radiological and electrocardiographic data were evaluated in a group of 36 dogs naturally infected with VL (VLG) and compared to data from 15 non-infected dogs (CG=Control Group). A prevalence of asymptomatic dogs was present in the CG (100%) and polysymptomatic dogs in the VLG (66%). In addition, two dogs in the VLG demonstrated systolic murmurs in the mitral valve region: one with a II/VI intensity and the other with a III/VI intensity. The mean values of RBC, hemoglobin and hematocrit were lower in dogs in VLG and were associated with higher values of total protein, total leukocytes, neutrophils, creatine kinase overall (CK) and the CK-MB fraction (CK-MB). The absence of radiographic changes was accompanied by a predominance of respiratory sinus arrhythmia associated with episodes of migratory pacemaker and sinus arrest in dogs in VLG (75%), sinus rhythm in dogs in CG (60%) and decreased P wave amplitude in VLG electrocardiography. Mononuclear cell infiltration was detected in the myocardium of 77,8% of dogs in GVL and classified primarily as mild multifocal lymphohistioplasmacytic. Amastigotes were detected in only one dog, which did not allow the association between myocarditis and parasitism, although the myocardial lesions that were found constitute irrefutable evidence of myocarditis in the VLG dogs, accompanied by lenient electrocardiographic changes compared to CG.

A leishmaniose visceral (LV) é uma zoonose parasitária cosmopolita capaz de promover miocardite e alterações no ritmo cardíaco em cães e seres humanos. Dessa forma, os aspectos clínicos, hematimétricos, bioquímicos, radiográficos, eletrocardiográficos e histopatológicos do miocárdio foram avaliados em 36 cães naturalmente infectados com LV (GLV) e comparados a 15 cães não infectados (GC). Houve predomínio de cães assintomáticos no GC (100%) e polissintomáticos no GLV (66%). Dois cães do GLV apresentaram sopro sistólico de intensidade II/VI e III/VI, em região de foco mitral. Os valores médios de hemácia, hemoglobina e hematócrito foram inferiores nos cães do GLV, associados a maiores valores de proteína total, leucócitos totais, neutrófilos, creatinina quinase total (CK) e fração MB (CK-MB). Ausência de alterações radiográficas foi acompanhada de predomínio de arritmia sinusal respiratória associada a episódios de marcapasso migratório e sinus arrest nos cães do GLV (75%), ritmo sinusal nos cães do GC (60%) e diminuição da amplitude da onda P no GLV à eletrocardiografia. Infiltrado inflamatório mononuclear foi detectado no miocárdio de 77,8% dos cães do GLV, classificados, em sua maioria, como linfoistioplasmocitário multifocal leve. A forma amastigota foi detectada em apenas um cão, não permitindo a associação entre a miocardite e a parasitose, ainda que as lesões miocárdicas encontradas constituam prova irrefutável da miocardite nos cães do GLV, acompanhadas por alterações eletrocardiográficas brandas em comparação ao GC.

Impact of subclinical and clinical mastitis on sensitivity to pain of dairy cows.

A total of 90 cows from three commercial farms were used to evaluate the relationship between subclinical mastitis and clinical mastitis and thermal nociceptive threshold. Milk strips from all udder quarters were tested for clinical mastitis with visual inspection of milk and udder alterations and for subclinical mastitis using California Mastitis Test. Milk yield was recorded, milk was sampled and further analyzed for somatic cells count (SCC). Cows were considered healthy when SCC200 000 cells/ml and no visual alterations in milk and/or udder, with moderate subclinical mastitis when SCC>500 000 cells/ml and no visual alterations in milk and/or udder and with clinical mastitis when visual alterations in milk and/or udder were detected. Nociceptive threshold was evaluated with the thermal threshold meter apparatus applied to the rear legs. Thermal threshold (TT) decreased when we compared healthy cows with cows presenting clinical mastitis and tended to decrease when we compare healthy cows with those with moderate subclinical mastitis. TT was lower at the ipsilateral rear leg compared with the contralateral leg to the infected mammary gland. TT linearly decreases as log10SCC increased and it showed sharp decrease as log10SCC exceed the value of 6.4. Increase in one unit of log10SCC increased the odds of low thermal threshold (lower than 55.8°C). Subclinical mastitis might be a welfare issue as it tended to decrease nociceptive thermal threshold.

Rickettsial Infection in Animals, Humans and Ticks in Paulicéia, Brazil.

A previous study in Paulicéia Municipality, south-eastern Brazil, reported 9.7% of the Amblyomma triste ticks to be infected by Rickettsia parkeri, a bacterial pathogen that causes spotted fever in humans. These A. triste ticks were shown to be associated with marsh areas, where the marsh deer Blastocerus dichotomus is a primary host for this tick species. During 2008-2009, blood serum samples were collected from 140 horses, 41 dogs, 5 opossums (Didelphis albiventris) and 26 humans in farms from Pauliceia Municipality. Ticks were collected from these animals, from vegetation and from additional wildlife in these farms. Overall, 25% (35/140) of the horses, 7.3% (3/41) of the dogs, 3.8% (1/26) of the humans and 100% (5/5) of the opossums were seroreactive (titre ≥64) to spotted fever group (SFG) Rickettsia spp. Multivariate statistical analysis indicated that horses that were allowed to forage in the marsh were 4.8 times more likely to be seroreactive to spotted fever group (SFG) Rickettsia spp than horses that did not forage in the marsh. In addition, horses that had been living in the farm for more than 8.5 years were 2.8 times more likely to be seroreactive to SFG Rickettsia spp than horses that were living for ≤8.5 years. Ticks collected from domestic animals or from vegetation included Amblyomma cajennense, Amblyomma coelebs, Amblyomma dubitatum, Dermacentor nitens and Rhipicephalus microplus. By PCR analyses, only one pool of A. coelebs ticks from the vegetation was shown to be infected by rickettsiae, for which DNA sequencing revealed to be Rickettsia amblyommii. Ticks (not tested by PCR) collected from wildlife encompassed A. cajennense and Amblyomma rotundatum on lizards (Tupinambis sp), and A. cajennense and A. triste on the bird Laterallus viridis. Our results indicate that the marsh area of Paulicéia offers risks of infection by SFG rickettsiae.

Milk yield and composition from Angus and Angus-cross beef cows raised in southern Brazil.

This study assessed milk yield and composition of Angus and Angus-cross beef cows raised in southern Brazil. A total of 128 records were collected in 2 consecutive calving seasons from cows between 3 and 5 yr of age of 4 breed compositions: Angus (ANAN), Caracu × Angus (CRAN), Hereford × Angus (HHAN), and Nelore × Angus (NEAN). These cows were mated to Brangus (BN) or Braford (BO) bulls and managed under extensive grazing conditions in southern Brazil. Milk production of these cows was assessed by 2 procedures: indirectly by the calf weigh-suckle-weigh procedure (WD) and directly by machine milking (MM). Lactation curves were estimated using nonlinear regression and the following related traits were derived: peak yield (PY), peak week (PW), total yield at 210 d (TY210), and lactation persistence (PERS). Milk composition and calf weaning weight adjusted to 210 d (WW210) were also determined. The MM technique was considered more accurate because of lower standard errors of estimated means, greater statistical power, and greater correlation between TY210 and WW210 (0.50) compared to WD (0.36). Considering the more precise evaluation by MM, the CRAN and NEAN cows had greater TY210 (1070 and 1116 kg, respectively) and PY (8.1 and 7.8 kg, respectively) compared to ANAN and HHAN cows, which had 858 and 842 kg for TY210 and 6.6 and 6.3 kg for PY, respectively. The NEAN cows had the latest PW at 10.8 wk. Late-calving cows had 21% lower TY210 compared to cows that calved earlier. Milk composition was influenced by cow genotype, with CRAN and NEAN cows producing milk with greater fat (3.8 and 3.9%, respectively) and protein (3.2 and 3.1%, respectively) content compared to ANAN and HHAN cows. Regardless of the genotype, fat, protein, and total solids increased in concentration from beginning to end of lactation, while lactose content decreased. Crossbreeding of Angus with adapted breeds of taurine or indicine origin can be effective in increasing milk yield and nutrient content and, consequently, producing heavier calves at weaning under extensive grazing in southern Brazil and other similar subtropical climate regions.

Strategies used by dairy family farmers in the south of Brazil to comply with organic regulations.

The aims of this study were to investigate the environmental, feeding, and health management of organic (ORG) family dairy farms in the south of Brazil in comparison with conventional (CONV) farms, and to assess their degree of compliance with Brazilian organic legislation and the strategies they adopt to accomplish this (n=17 per group). During 2 visits to each farm in March and September, 2010, observations were made on the environment, feed, and health management, followed by bulk milk testing, clinical evaluation, and breed assessment of each individual cow, and an evaluation of diseases and treatments reported within the period. Additional data were collected directly from the farmers through direct interviews. The number of lactating cows was, on average, 11 (range 5 to 19) in the ORG and 16 (range 7 to 42) in the CONV herds. The ORG herds presented a lower percentage of the Holstein breed; whereas CONV herds were predominantly Holstein, in the ORG herds, only 2 herds were 100% Holstein and the remaining herds were crosses of Holstein, Jersey, and Gir (Bos indicus) cattle. Milk production per cow was lower (10.2 vs. 15.1 ± 1.22 L/cow, respectively) in ORG than in the CONV farms. The ORG farms offered less concentrate feed than CONV farms and had better pasture management. Organic farmers reported using phytotherapic and homeopathic products, and pasture management as a strategy to keep infection levels of endo- and ectoparasites low, whereas CONV farmers regularly used anthelmintics and acaricides. Milk production was lower in ORG than in CONV farms, but cow health and condition scores were broadly similar, indicating that the with these strategies ORG farms were able to secure levels of animal welfare comparable with CONV farms while complying with organic regulation, although at the cost of lower cow productivity.

PP040. Expression of RANTES (CCL5) in maternal plasma, fetal plasma and placenta in pre-eclampsia and normotensive controls.

INTRODUCTION: Studies have shown pre-eclampsia (PE) as an exacerbation of gestational inflammatory process. RANTES (Regulated upon Activation, Normal T-cell Expressed, and Secreted)/CCL5 is a chemokine, which is involved in chronic inflammation by the recruitment of inflammatory cells. It is secreted by many cell types such as endothelial cells, smooth muscle cells, macrophages, platelets and activated T-cells. Thus we hypothesized that RANTES expression is altered in PE and may be different in gestational tissues (maternal plasma, fetal plasma and placenta). OBJECTIVES: The purpose of the study is to analyze the expression of RANTES (CCL5) in three different tissues: maternal plasma, fetal plasma and placenta, in PE and normotensive controls (NC). METHODS: PE was diagnosed by the National High Blood Pressure Education Program Working Group Report on High Blood Pressure in Pregnancy guidelines. The patients were assisted in the São Lucas Hospital from PUCRS, Porto Alegre, Brazil. Following ethical approval and informed written consent, maternal and umbilical plasma and placental biopsies were taken from 33 PE and 35 NC. Samples were centrifuged immediately after blood collection and plasma was stored at -80°C until assay. Placental Biopsies were taken midway between the cord and periphery, from the central region of cotyledons and were stored as well. RANTES expression was made by the ELISA test, in duplicates. They were also analyzed in each group: maternal age, maternal parity, gestational age on delivery, glucose, body mass index, proteinúria creatinuria ratio, systolic blood pressure (SBP), diastolic blood pressure (DBP), delivery method, birth weight, placental weight and Apgar index in 1st and 5th minute. RESULTS: Maternal age at the time of blood collection was not significantly different between the two groups. The women with preeclampsia delivered earlier and had smaller babies compared with the controls. Significant associations between groups (p<0.001) were seen in SBP, DBP, birth weight and delivery method. RANTES was increased in maternal plasma and placenta in patients with PE and decreased in fetus plasma in the same group (p<0.001). CONCLUSION: In this study, we have shown that RANTES expression in maternal plasma and placenta tissues, in women with established pre-eclampsia, is higher than in gestation-matched women with a healthy pregnancy. It confirms the hypotheses that physiology of PE is associated with an increase of normal gestational inflammatory process. However in fetus tissue, the inflammatory chemokine is decreased in PE women. FUNDING: CAPES Foundation, Ministry of Education of Brazil, Brasília - DF 70040-020, Brazil.

Simulação da rentabilidade e viabilidade econômica de um modelo de produção de leite em free-stall / Simulation of economic feasibility and profitability of a free stall model milk production

Avaliaram-se a rentabilidade e a viabilidade econômica da implantação de um sistema de produção de leite em free-stall. Foi realizada uma pesquisa técnico-mercadológica para definir os investimentos necessários e determinar os custos de cada fator de produção. Considerou-se um modelo de produção composto por 100 vacas em lactação, com produção média total de 2595 litros de leite por dia. O custo operacional total mensal foi de R$27.787,39, tendo a nutrição como a variável de maior relevância, representando 62,7 por cento do custo. Para a receita bruta mensal, obteve-se o valor de R$43.817,50 e a consequente receita líquida mensal de R$16.030,11. Observou-se rentabilidade de 12,2 por cento ao ano, com valor presente líquido negativo de R$131.627,39. Concluiu-se que o modelo proposto mostrou-se economicamente inviável levando-se em consideração os preços estimados.

The economical profitability and viability of the implantation of a milk production system in free stall were evaluated. A technical-market analysis was done to define the necessary investment as well as to determine the costs of each production factor. A production model with 100 lactating cows averaging 2,595 liters of daily production was considered. The total monthly operational cost was R$27,781.39 showing that nutrition is the variable with higher relevance (62.7 percent of the cost). For the monthly gross income a value of R$43,817.50 was obtained and, consequently, the monthly net income (NI)was R$16,030.11. A 12.2 percent profitability per year from NI rendering a deficit net value of R$131,627.39. Considering the estimated prices it is concluded that the proposed model was economically unfeasible.

Rickettsial infections of dogs, horses and ticks in Juiz de Fora, southeastern Brazil, and isolation of Rickettsia rickettsii from Rhipicephalus sanguineus ticks.

The present study was performed in an area endemic for Brazilian spotted fever (BSF) in Juiz de Fora, state of Minas Gerais, Brazil, during the years 2007 and 2008, when fatal cases of BSF (caused by Rickettsia rickettsii) were reported. Adult ticks (Acari: Ixodidae) identified as Rhipicephalus sanguineus (Latreille) and Amblyomma cajennense (Fabricius) were collected from dogs and horses, respectively, and tested by polymerase chain reaction (PCR). Overall, 13.1% of the Rh. sanguineus ticks and none of the A. cajennense were found to be infected with R. rickettsii. Two isolates of R. rickettsii were successfully established in Vero cell culture from two Rh. sanguineus ticks. An indirect immunofluorescence assay (IFA) using R. rickettsii antigens detected blood serological reaction to R. rickettsii in 67.9% (53/78) of dogs and 41.0% (16/39) of horses living in the study area. Larval offspring from two Rh. sanguineus engorged females, naturally infected by R. rickettsii, were reared to adult stage in the laboratory. All active stages (larvae, nymphs, adults) remained 100% infected by R. rickettsii, which was efficiently transmitted to naïve rabbits. Overall, the results of the present study indicate a potential risk for transmission of R. rickettsii to humans by Rh. sanguineus, an occurrence yet to be documented in Brazil.

Gender, body mass index and rheumatoid arthritis disease activity: results from the QUEST-RA Study.

OBJECTIVES: To investigate whether body mass index (BMI), as a proxy for body fat, influences rheumatoid arthritis (RA) disease activity in a gender-specific manner. METHODS: Consecutive patients with RA were enrolled from 25 countries into the QUEST-RA program between 2005 and 2008. Clinical and demographic data were collected by treating rheumatologists and by patient self-report. Distributions of Disease Activity Scores (DAS28), BMI, age, and disease duration were assessed for each country and for the entire dataset; mean values between genders were compared using Student's t-tests. An association between BMI and DAS28 was investigated using linear regression, adjusting for age, disease duration and country. RESULTS: A total of 5,161 RA patients (4,082 women and 1,079 men) were included in the analyses. Overall, women were younger, had longer disease duration, and higher DAS28 scores than men, but BMI was similar between genders. The mean DAS28 scores increased with increasing BMI from normal to overweight and obese, among women, whereas the opposite trend was observed among men. Regression results showed BMI (continuous or categorical) to be associated with DAS28. Compared to the normal BMI range, being obese was associated with a larger difference in mean DAS28 (0.23, 95% CI: 0.11, 0.34) than being overweight (0.12, 95% CI: 0.03, 0.21); being underweight was not associated with disease activity. These associations were more pronounced among women, and were not explained by any single component of the DAS28. CONCLUSIONS: BMI appears to be associated with RA disease activity in women, but not in men.

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

BACKGROUND AND PURPOSE: The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal. METHODS: Patients with progressive cerebellar dysfunction of autosomal dominant transmission underwent a clinical examination protocol and genetic testing for spinocerebellar ataxia (SCA)1 to Machado-Joseph disease (MJD)/SCA3, SCA6, SCA7, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA). We registered the clinical characteristics and frequency of each type of ataxia. RESULTS: MJD/SCA3 was the most frequent ADCA (26 families, 57.8% of all families), followed by DRPLA (5 families, 11.2%), SCA7 (2 families, 4.4%), SCA2 and SCA1 (1 family each, 2.2% each); 10 families (22.2%) had no molecular diagnosis. SCA1 and SCA7 patients had African ancestry. DRPLA patients had Portuguese ancestry and were characterized by prominent anticipation and a variable combination of epilepsy, extra-pyramidal symptoms and dementia. Ophtalmoparesis, slow saccades and retinopathy were most distinctive of SCA3, SCA2 and SCA7 cases, respectively. CONCLUSIONS: MJD/SCA3 was the most common ADCA in this group of families. The high frequency of DRPLA and presence of SCA1 and SCA7 cases was unexpected. The presence of these rarer ADCA types probably reflects migration phenomena, posing a challenge for differential diagnosis.

Smokers and non smokers with rheumatoid arthritis have similar clinical status: data from the multinational QUEST-RA database.

OBJECTIVES: To analyse clinical severity/activity of rheumatoid arthritis (RA) according to smoking status. METHODS: The QUEST-RA multinational database reviews patients for Core Data Set measures including 28 swollen and tender joint count, physician global estimate, erythrocyte sedimentation rate (ESR), HAQ-function, pain, and patient global estimate, as well as DAS28, rheumatoid factor (RF), nodules, erosions and number of DMARDs were recorded. Smoking status was assessed by self-report as 'never smoked', 'currently smoking' and 'former smokers'. Patient groups with different smoking status were compared for demographic and RA measures. RESULTS: Among the 7,307 patients with smoking data available, status as 'never smoked,' 'current smoker' and 'former smoker' were reported by 65%, 15% and 20%. Ever smokers were more likely to be RF-positive (OR 1.32;1.17-1.48, p<0.001). Rheumatoid nodules were more frequent in ever smokers (OR 1.41;1.24-1.59, p<0.001). The percentage of patients with erosive arthritis and extra-articular disease was similar in all smoking categories. Mean DAS28 was 4.4 (SD 1.6) in non-smokers vs. 4.0 (SD 1.6) in those who had ever smoked. However, when adjusted by age, sex, disease duration, and country gross domestic product, only ESR remained significantly different among Core Data Set measures (mean 31.7mm in non-smokers vs. 26.8mm in ever smoked category). CONCLUSIONS: RA patients who had ever smoked were more likely to have RF and nodules, but values for other clinical status measures were similar in all smoking categories (never smoked, current smokers and former smokers).

Risk factors for colonisation of newborn infants during an outbreak of extended-spectrum beta-lactamase-producing Klebsiella pneumoniae in an intermediate-risk neonatal unit.

We describe a cross-sectional survey to identify risk factors for colonisation of neonates by extended-spectrum beta-lactamase (ESBL)-producing Klebsiella pneumoniae. This occurred following exposure to a colonised healthcare worker during an outbreak in an intermediate-risk neonatal unit. In total, 120 neonates admitted consecutively during a three-month period were screened for ESBL-producing K. pneumoniae by rectal swabbing and 27 were identified as colonised. Multivariate analysis showed colonisation to be independently associated with use of antibiotics and absence of breastfeeding. Previous use of antibiotics presented an odds ratio (OR) of 12.3 [95% confidence interval (CI): 3.66-41.2, P<0.001]. The most commonly used antibiotics were penicillin and amikacin. Breastfeeding was associated with reduced risk for colonisation (OR: 0.22; 95% CI: 0.05-0.99; P=0.049). Nine isolates recovered during the first stage of the outbreak and 27 isolates from surveillance cultures were typed thereafter by pulsed-field gel electrophoresis, revealing six different profiles (A-F). Clones A, C, and E were implicated in the first stage of the outbreak, whereas among the 27 strains recovered from surveillance cultures, all six clones were identified. Clone A was also found on the hand of a nursing auxiliary with onychomycosis. We concluded that prior antimicrobial use predisposed to colonisation. The possible role of breastfeeding as a protective factor needs to be further elucidated. Detection of different genotypes of ESBL-producing K. pneumoniae suggests that dissemination of mobile genetic elements bearing the ESBL gene may have been superimposed on the simple dissemination of a clone during the outbreak.

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

OBJECTIVES: The hereditary spastic paraplegias (HSP) are a genetically and clinically heterogeneous group of neurodegenerative disorders, mainly characterized by a progressive spasticity and weakness of the lower limbs. Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP. To genetically diagnose the Portuguese families with HSP, mutation analysis was performed for the SPG4 and SPG3A genes. PATIENTS AND METHODS: Analysis was performed by polymerase chain reaction, followed by denaturing high performance liquid chromatography (DHPLC), in 61 autosomal dominant (AD)-HSP families and 19 unrelated patients without family history. RESULTS: Ten novel mutations were identified: one in the SPG3A and nine in the SPG4 genes; three known mutations in the SPG4 were also found. Most of the novel mutations were frameshift or nonsense (80%), resulting in a dysfunctional protein. CONCLUSIONS: The SPG4 and SPG3A analysis allowed the identification of 10 novel mutations and the genetic diagnosis of approximately a quarter of our AD-HSP families.

Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population.

BACKGROUND: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little studied. OBJECTIVE: To analyze genetic fitness of MJD patients, comparing them to their unaffected relatives and to the general population (GP) of origin. SUBJECTS AND METHODS: 182 informants, belonging to 82 MJD families, agreed to participate in the study. Informants supplied data about 828 MJD patients. Number of children (NC), gender, age, school attainment, menarche and menopause were compared between general and emeritus (older than 45 years of age or deceased) groups. RESULTS: Mean NC of the GP and of MJD patients were respectively 1.90 and 2.93+/-2.3 (p = 0.0037). Comparisons within families also showed differences: the mean NC of unaffected and affected emeritus MJD women were, respectively, 2.68 and 3.89 (p = 0.0037). Affected MJD women had earlier mean ages at the delivery of their first child and menopause (p < 0.011 and 0.07, respectively). Among affected women those who did not have children had larger CAG tracts than those who had children (p < 0.05). CONCLUSION: MJD enhances the fitness of its carriers, and this phenomenon seems to have a biological basis.