ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.

Resumo Introdução: A homocistinúria clássica (HCU) é uma doença autossómica recessiva caracterizada por um défice na enzima cistationina beta-sintase, com probabilidade de ocorrência de complicações vasculares associadas. É apresentado o caso de uma adolescente diagnosticada com HCU no decorrer do estudo etiológico de trombose dos seios venosos (TSV). Descrição do caso: Uma adolescente de 14 anos apresentou um resultado de teste de trombofilia sugestivo de HCU durante o estudo de TSV. A doente foi orientada para uma Unidade de Doenças Hereditárias do Metabolismo, onde iniciou suplementação com piridoxina, ácido fólico, vitamina B12, betaína e cisteína e foi aconselhada a restringir proteínas naturais e metionina na dieta. O estudo genético revelou uma mutação homozigótica do gene CBS (c.572C> T (p.T191M) e o polimorfismo c.699C> T (p.Y233Y). Discussão: Os autores salientam a importância de considerar a HCU no estudo etiológico da trombofilia, principalmente em adolescentes nascidos antes de 2004 (ano de inclusão da HCU no rastreio neonatal), uma vez que se trata de uma doença tratável e o tratamento é capaz de prevenir as principais causas de morbimortalidade associadas.

Abstract Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.

The classification of human papillomavirus (HPV) intratypic lineages by complete genome sequencing is a determinant in understanding biological differences in association with this disease. In this work, we have characterised complete HPV genomes from southern Brazil. Fifteen cervicovaginal Pap smear negative samples previously categorised as HPV-positive were sequenced using ultradeep sequencing, and 18 complete genomes from 13 different HPV types were assembled. Phylogenetic and genetic distance analyses were performed to classify the HPV genomes into lineages and sublineages. This is the first report describing the distribution of HPV intratype lineages of high and low oncogenic risk in asymptomatic women from southern Brazil.

This study investigated the rate of human papillomavirus (HPV) persistence, associated risk factors, and predictors of cytological alteration outcomes in a cohort of human immunodeficiency virus-infected pregnant women over an 18-month period. HPV was typed through L1 gene sequencing in cervical smears collected during gestation and at 12 months after delivery. Outcomes were defined as nonpersistence (clearance of the HPV in the 2nd sample), re-infection (detection of different types of HPV in the 2 samples), and type-specific HPV persistence (the same HPV type found in both samples). An unfavourable cytological outcome was considered when the second exam showed progression to squamous intraepithelial lesion or high squamous intraepithelial lesion. Ninety patients were studied. HPV DNA persistence occurred in 50% of the cases composed of type-specific persistence (30%) or re-infection (20%). A low CD4+T-cell count at entry was a risk factor for type-specific, re-infection, or HPV DNA persistence. The odds ratio (OR) was almost three times higher in the type-specific group when compared with the re-infection group (OR = 2.8; 95% confidence interval: 0.43-22.79). Our findings show that bonafide (type-specific) HPV persistence is a stronger predictor for the development of cytological abnormalities, highlighting the need for HPV typing as opposed to HPV DNA testing in the clinical setting.

RESUMO O objetivo do trabalho foi avaliar a resistência natural de chapas de partículas orientadas (OSB) confeccionadas com partículas de Hevea brasiliensis Müll.Arg. aderidas com as resinas sintéticas uréia- formaldeído (UF) e fenol-formaldeído (FF), a 5% e 8%, expostas a fungos xilófagos em condições de laboratório. No ensaio acelerado de laboratório as amostras foram submetidas ao ataque dos fungos de podridão-parda Gloeophyllum trabeum (Pers. : Fr.) Murril, Coniophora puteana (Schumach. : Fr.) P. Karst., Meruliporia incrassata (Berk. & M.A. Curtis) Murrill e também aos fungos de podridão-branca, Fomes annosus (Fr. : Fr.) Cooke, Trametes versicolor (L. : Fr.) Pilát, Ganoderma applanatum (Pers.) Pat., Bjerkandera fumosa (Pers. : Fr.) P. Karst. e Phanerochaete chrysosporium Burds. Dentre os fungos de podridão-parda, o Gloeophyllum trabeum causou a maior perda de massa nos corpos-de-prova testados. Dentre os fungos de podridão-branca, Trametes versicolor, Phanerochaete chrysosporium e Ganoderma applanatum causaram as maiores perdas de massa, sem diferença significativa para o Gloeophyllum trabeum. A resina FF proporcionou maior resistência à ação dos fungos nas chapas OSB, o mesmo fato ocorrendo com o maior teor de resina. O fungo Coniophora puteana foi altamente sensível ao tipo de resina aplicado, enquanto o Bjerkandera fumosa demonstrou reduzida ação nas concentrações mais altas de ambas as resinas. O fungo Fomes annosus apresentou degradação insignificante para todos os tratamentos de chapas OSB.

ABSTRACT This work aimed to evaluate the natural durability of oriented strandboards (OSB) manufactured with strands of Hevea brasiliensis Müll.Arg. bonded with 5% and 8% of urea-formaldehyde (UF) and phenol-formadehyde (FF) resins, exposed to xilophagous fungi under laboratory conditions. In accelerated laboratory test decay, samples of OSB were exposed to the following fungi: the brown-rot fungi Gloeophyllum trabeum (Pers. ex Fries) Murr., Coniophora puteana (Schumach. : Fr.)P. Karst., Meruliporia incrassata (Berk. & M.A. Curtis) Murrill as well as the white-rot fungi Fomes annosus (Fr. : Fr.) Cooke, Trametes versicolor (L. : Fr.) Pilát, Ganoderma applanatum (Pers.) Pat., Bjerkandera fumosa (Pers. : Fr.) P. Karst. and Phanerochaete chrysosporium Burds. Among the brown-rot fungi, the Gloeophyllum trabeum was the most aggressive, showing the highest loss of mass. Trametes versicolor and Ganoderma applanatum confirmed the preference for broadleave species. All oriented strandboards at lower UF resin contents were more degraded by Phanerochaete chrysosporium, Trametes versicolor, Ganoderma applanatum, Merulia incrassata, Coniophora puteana and Gloeophyllum trabeum, with high rate of loss of mass. Coniophora puteana showed small loss of mass when FF resin was applied. Bjerkandera fumosa showed low loss of mass only at higher resin content. Oriented strandboards exposed to Coniophora puteana showed insignificant OSB degradation.

Diferentes subtipos do virus da imunodeficiência humana do tipo 1 (HIV-1) podem ter propriedades biológicas, imunológicas e patogênicas distintas. A eficiência da transmissão materno-infantil (TMI) pode estar entre estas propriedades, porém resultados escassos e controversos foram descritos até o momento. Neste estudo, 102 crianças nascidas de mães infectadas pelo HIV-1 entre 1998 e 2004 na cidade do Rio Grande, Brasil, foram analisadas para fatores de risco potenciais associados à TMI. Aquela região geográfica é caracterizada por uma alta proporção de indivíduos infectados pelo subtipo C do HIV-1, permitindo a comparação entre os subtipos B e C e sua influência na transmissão vertical do vírus. A análise também incluiu parâmetros clínicos, obstétricos e imunológicos. Análises de regressão multivariada foram conduzidas para avaliar a influência daqueles parâmetros na TMI, e as razões de prevalência (RP) e intervalos de confiança de 95% (IC95) foram também calculados. Um prevalência surpreendentemente alta do subtipo C acima dos 70% foi encontrada. Somente a carga viral do HIV e o uso de protocolo ACGT 076 maternos forma preditivos de TMI. O subtipo do HIV-1 e a contagem de células T CD4+ não foram associados a um risco aumentado de transmissão. Embora uma clara expansão do subtipo C seja evidente no sul do Brasil, esta não parece estar correlacionada com risco aumentado de transmissão vertical.

Different human immunodeficiency virus type 1 (HIV-1) subtypes may have distinct biological, immunological and pathogenic properties. Efficiency of mother-to-child transmission (MTCT) may be among those properties, but few and controversial results have been described so far. In this study, 102 children born from HIV-1-infected mothers between 1998 and 2004 in the city of Rio Grande, Brazil were analyzed for potential risk factors associated with MTCT. That geographic region is characterized by a high proportion of subtype C-infected subjects, and it allowed comparison between subtypes B and C and their influence on MTCT. The analysis also included clinical, obstetric and immunological parameters. Multivariate regression analyses were conducted to evaluate the influence of the parameters on MTCT, and prevalence ratios (PR) and 95% confidence intervals (CI95) were also calculated. A surprisingly high prevalence of subtype C of over 70% was found. Only the HIV viral load and the use of ACTG 076 protocol were predictive of MTCT. HIV subtype and CD4 T-cell counts were not associated with increased risk of transmission. Although a clear expansion of subtype C is evident in southern Brazil, it does not seem to correlate with increased risk of vertical transmission.

0 objetivo do trabalho foi determinar o melhor tratamento pós-colheita para manutenção floral e aumento da longevidade de crisântemo de maço do tipo pompom (Dendranthema grandiflorum (Ramat.) S. Kitamura) cv. White Polaris. Estabeleceu-se como ponto de colheita o momento em que as hastes apresentavam três inflorescências apicais com as pétalas externas em ângulo de 45° em relação à horizontal. Durante o ensaio em laboratório, as hastes, colhidas em estufa de produção comercial, após totalmente imersas em água de torneira, à sombra, durante três horas, foram cortadas sob água na base do caule entre 50 e 60 cm. As hastes foram distribuídas nos diferentes tratamentos de "pulsing" durante 24 horas, com luz contínua de 1.500 lux, 60 a 90% de umidade relativa do ar e temperatura ambiente de 25 ± 2°C. No primeiro experimento, testou-se a eficiência de 8-hidroxiquinolina (8-HQ) e tiabendazole (TBZ) como germicidas de manutenção da qualidade na solução de "pulsing"; testaram-se, também, dois reguladores de crescimento, a saber: ácido giberélico (GA3), 6-benzilaminopurina (6-BA) ou a mistura dos dois, com o objetivo de preservar a cor e a turgidez da folhagem. Os melhores resultados foram com 8-HQ (0,69 mol/m³) e GA3 (0,058 mo1/m³). No segundo experimento, avaliaram-se os seguintes inibidores de etileno: tiossulfato de prata (STS), nitrato de prata (AgNO3) e cloreto de cobalto (COC1(2)). A melhor resposta foi obtida com AgNO3 (2,9 e 4,4 mo1/m³).

Cut flowers of spray chrysanthemum (Dendranthema grandiflorum (Ramat.) S. Kitamura) cv. White Polaris were harvested and treated in pulsing solutions. The flowers were harvested in commercial greenhouses and transported to the laboratory where the whole stem and inflorescence were immersed in tap water at darkness, during 3 hours. The flowers were selected for uniformity in terms of development; the stems were trimmed to equal length (50 to 60 cm) and tagged to allow recording morphological changes associated with individual flowers. The flowers were held during 24 hours (pulsing treatment period) at 25 ± 2°C and 60 to 90% of air relative humidity under continuous cool white fluorescent light at 1.5 KLx. At the end of the treatment, the flowers were transferred to distilled water, under daily 10 hours of continuous fluorescent light and at the same laboratory conditions already described. At the first experiment, it was tested the efficiency of 8-hydroxyquinoline (8-HQ) and thiabendazole (TBZ), as germicides, in three concentrations each one. Furthermore, two growth regulators were applied in order to keep the green color and the turgidity of leaves: gibberellic acid (GA3), 6-benzylaminopurine (6-BA) and a mix of them. At the second experiment, in order to extend the vase-life by inhibition of ethylene production, it was tested the effect of silver nitrate (AgNO3), anionic silver thiosulphate complex (STS) and cobalt chloride (CoCl2) into pulsing solutions in three concentrations each one. The results of experiments showed that pulsing treatment with distilled water + 0.52 mol/m³ citric acid + 58.43 mol/m³ sucrose + 0.69 mol/m³ 8-HQ + 2.9 or 4.4 mol/m³ AgNO3, combined with foliar treatment of 0.058 mol/m³ GA3, improved the foliar quality and extended the flower vase life.

Realizou-se pesquisa objetivando determinar o melhor entre quatro pontos de colheita da haste floral de crisântemos de maço do tipo pompom cv. White Polaris a concentração mais adequada de sacarose para tratamento de "pulsing" dessas hastes: estas foram colhidas em estufa de produção comercial, nos pontos preestabelecidos e transportadas para laboratório, onde foram totalmente imersas em água de torneira, à sombra, durante três horas. Selecionaram-se as hastes pela uniformidade do seu desenvolvimento e cortaram-nas sob água na base do caule, entre 50 e 60 cm, e identificadas, o que permitiu avaliar as mudanças morfológicas associadas às inflorescências individuais. As hastes foram distribuídas e mantidas nos diferentes tratamentos de "pulsing" durante 24 horas, à luz branca contínua de 1.500 lux, 60 a 90% de umidade relativa do ar e temperatura ambiente de 25 ± 2°C. Após o tratamento de "pulsing", as hastes foram transferidas para água destilada, permanecendo por 10 horas sob luz branca contínua, nas mesmas condições de laboratório citadas. A vida floral em vaso começou a ser avaliada na instalação do experimento, após o tratamento de "pulsing", e terminou quando as folhas e pétalas perderam a turgescência e o valor decorativo. As hastes colhidas em estádio de botão (25 e 50% de abertura das inflorescências apicais) não alcançaram o ponto de abertura adequado em nenhuma das seis concentrações de sacarose (0 a 146,07 mol/m³); as concentrações de 116,9 146,1 mol/m³, porém, estimularam, em geral, a abertura de botões. Os pontos de colheita 1 e 2 (100 e 75% de abertura das inflorescências apicais respectivamente) apresentaram bons resultados em todas as concentrações de sacarose.

Flowers of spray chrysanthemum cv. White Polaris were cut at 4 stages and treated in pulsing solutions of distilled water plus 0 to 146.1 mol/m³ sucrose. The flowers were harvested in local commercial greenhouses, at various stages of development, and transported to the laboratory. The whole stem and inflorescences were immersed in tap water under the shade, during 3 hours. The flowers were selected for uniformity in terms of development. The stems were trimmed to equal length (50 to 60 cm) and tagged to allow recording morphological changes associated with individual flowers. The flowers were held during a 24 h pulsing treatment period at 25 ± 2°C and 60 to 90% air relative humidity under continuous cool white fluorescent light at 1.5 KLx. At the end of the treatment, the flowers were transferred to distilled water, under 10 h daily continuous fluorescent light and the same laboratory conditions as above. Vase life was measured from the end of the treatment period and was considered to have terminated when leaves and flower petals lost their turgidity and decorative value. Opening and duration of flowers of stalks harvested with apical inflorescences fully or 75% open was satisfactory in all solutions. Flowers of stalks with apical inflorescences 50% or 25% open did not reach the full potential of flower size, but 116.9 and 146.1 mol/m³ sucrose generally promoted flower opening.