Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual With Van der Woude Syndrome

Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. (C) 2011 Wiley-Liss, Inc.

Oral cleft prevention program (OCPP)

Background: Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted.Methods/design: This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings.Discussion: The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women.

Atividade de enzimas oxidativas do Lentinula edodes em substratos agroindustriais

Basidyomycete Lentinula edodes has its related enzymatic activity mainly on the agribusiness waste kind used as a substrate. The objective of this work was to verify the activity of oxidative enzymes lacase (Lac), lignina peroxidase (LiP) and manganese peroxidase (MnP) of three L. edodes strains, in stationary system, cultivated the 25 degrees C, in the absence of light, in substrates wtih 20% of bran of rice, 1% of CaCO(3) and 79% of rice husk (CA), eucalyptus sawdust (SE), cassava bagasse (BM) and sugarcane bagasse (BC), adjusted to 60% of humidity. The Lac and MnP activities were bigger in eucalyptus sawdust (SE) and sugarcane bagasse (BC). The UP activity was not induced for tested substrates. The rice husk (CA) and cassava bagasse (BM) Substrates, although are not adequate to produce Lac or MnP, can be used as additives to increase the porosity, air availability and easy metabolism polysaccharides.

A new frog of the genus Hylodes (Amphibia : Leptodactylidae) from Minas Gerais, Brazil

A new species of leptodactylid frog is described from Parque das Mangabeiras, in Belo Horizonte, Minas Gerais, south-eastern Brazil. The new species is a member of the Hylodes lateristrigatus group, and is characterized by medium size, snout rounded in dorsal view and protruding in lateral view, presence of vocal slits and sacs, upper surface of finger and toe discs with well-developed scutes, a weakly developed stripe on the upper lip, dorsum, arm, leg, and foot dark brown with small irregular brown and black dots, and absence of red and yellow spots in live specimens. The descriptions of the tadpoles and vocalizations, and information on natural history are provided. Hylodes perplicatus (Miranda-Ribeiro), previously considered a member of the H. nasus species group, is transferred to the H. lateristrigatus species group.

Ligninolytic activity from newly isolated basidiomycete strains and effect of these enzymes on the azo dye orange II decolourisation

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Ligninases production by Basidiomycetes strains on lignocellulosic agricultural residues and their application in the decolorization of synthetic dyes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Actinic cheilitis: Clinical and histological features

Purpose: The purpose of this study was to analyze the clinical and histological features of actinic cheilitis (AC).Patients and Methods: A total of 29 patients with AC were clinically evaluated, and incisional biopsies were performed to confirm the clinical diagnosis. Histological features were analyzed, and dysplasia was classified as mild, moderate, or severe. The chi(2) test was used for the following variables: gender, age, race, and smoking habits. The degree of dysplasia was related to these variables (Fisher's test) to test for independence between them (P <.05).Results: of the patient group, 72.41% were male, 75.86% were overage 40 years, 93.10% were white, and 72.41% were nonsmokers. Clinically, all patients presented with multifocal lesions. The following manifestations were seen: dryness, atrophy, scaly lesions, swelling of the lip, erythema, ulceration, blurred demarcation between the lip vermilion border and the skin, marked folds along the lip vermilion, white spots or plaques, crusts, blotchy areas, and areas of pallor. Keratosis, granulosis, hyperplasia, acanthosis, or atrophy and dysplasia were found in the epithelial tissue; elastosis, inflammatory infiltrate, and vasodilatation were found in the connective tissue. Dysplasia was mild in 10.34% of the patients, moderate in 27.59%, and severe in 62.07%. Absence of sample homogeneity was observed in regard to gender, age, race, and smoking habits. It was not possible to reject the hypothesis of independence between mild, moderate, or severe dysplasia and gender, age, race, and smoking habits.Conclusions: Dryness, atrophy, and scaly lesions were the most common clinical findings observed. Dysplasia, inflammatory infiltrate, and vasodilatation, as well as elastosis, were the most common histological findings observed. Gender, age, race, or smoking habits were not related to the degree of dysplasia in the sample. (c) 2008 American Association of Oral and Maxillofacial Surgeons.

Mucus extravasation and retention phenomena: a 24-year study

Background: Mucoceles are benign lesions related to the minor salivary glands and their respective ducts frequently affecting oral structures which are generally asymptomatic. Mucoceles are generally characterized by swollen nodular lesions preferentially located on the lower lip and differ from the so-called ranulas, which are lesions located on the floor of the mouth and related to the sublingual or submandibular glands.Methods: The objective of the present study was to analyze data such as age, gender, race and site of the lesion of 173 mucocele cases diagnosed at the Discipline of Stomatology, Sao Jose dos Campos Dental School, UNESP, over a period of 24 years (April 1980 to February 2003).Results: of the 173 cases analyzed, 104 (60.12%) were females and 69 (39.88%) were males. Age ranged from 4 to 70 years (mean +/- SD: 17 +/- 9.53) and most patients were in the second decade of life (n = 86, 49.42%); white (n = 124, 71.68%). The lower lip was the site most frequently affected by the lesions (n = 135, 78.03%), whereas the lowest prevalence was observed for the soft palate, buccal mucosa, and lingual frenum.Conclusion: In this study, mucoceles predominated in white female subjects in the second decade of life, with the lower lip being the most frequently affected site.

Ocorrência de fissuras labiopalatais na cidade de São José dos Campos-SP

OBJETIVO: O objetivo do estudo foi descrever os casos de fissuras labiopalatais registrados na AAFLAP (Associação de Apoio aos Fissurados Labiopalatais), ocorridos na cidade de São José dos Campos - SP, em relação ao sexo, classificação socioeconômica, tipo de fissura e concomitância com síndromes. MÉTODOS: Os dados foram levantados das fichas preenchidas pela AAFLAP, entidade que recebe, orienta e encaminha para a realização dos procedimentos terapêuticos necessários, totalizando 200 crianças acometidas no período de 1992 a 2002. RESULTADOS: da análise dos dados pode-se observar que não houve diferença significativa na ocorrência de fissuras labiopalatais com relação ao sexo, sendo 48% do feminino e 52% do masculino, e que 73,70% dos casos acometeram crianças oriundas de classe socioeconômica desfavorecida. A fissura do tipo pós-forame incisivo prevaleceu em 41,33% dos casos, seguida da transforame incisivo com 33,16%, da pré-forame incisivo com 24,49% e das raras com 1,02%. Dos casos de fissura pós-forame incisivo, a incompleta totalizou 79%; dos casos de fissura pré-forame incisivo, o lado esquerdo totalizou 56% dos casos. de todos os casos levantados de fissuras labiopalatais, 9,18% estavam associados a alguma síndrome, sendo a Síndrome de Pierre Robin a mais prevalente e, em 94% das vezes, associada ao tipo de fissura pós-forame incisivo incompleta. CONCLUSÃO: Não houve diferença na ocorrência com relação ao sexo da criança; a classe socioeconômica desfavorecida foi a mais acometida; a fissura mais prevalente foi a pós-forame incompleta, e um décimo do total estudado, aproximadamente, apresentava associação com alguma síndrome.

Determination of sugar cane herbicides in soil and soil treated with sugar cane vinasse by solid-phase extraction and HPLC-UV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

A respiração frenolabial na doença pulmonar obstrutiva crônica: revisão da literatura

Esta revisão teve por objetivo destacar os principais achados publicados nos últimos dez anos sobre os efeitos da respiração frenolabial (RFL) em pacientes com doença pulmonar obstrutiva crônica (DPOC). A busca dos artigos foi realizada nas bases de dados Lilacs, IBECS, MEDLINE e SciELO, por meio dos seguintes descritores da área da saúde (DeCS): doença pulmonar obstrutiva crônica, reabilitação, respiração, hiperinsuflação e dispneia, e suas respectivas versões na língua inglesa (MeSH), além do termo pursed-lip breathing. Após a eliminação dos títulos repetidos, foram selecionados somente os estudos que abordavam a RFL como tema principal, resultando em 12 artigos científicos, 10 ensaios clínicos e 2 revisões bibliográficas. Segundo os achados, a RFL proporciona: alterações sobre a gasometria arterial, caracterizada pelo aumento da saturação e pressão parcial de oxigênio; padrão ventilatório, com diminuição da frequência respiratória e aumento de tempo expiratório e do volume corrente; mecânica ventilatória, por meio do recrutamento de musculatura abdominal expiratória e dos músculos da caixa torácica e acessórios da inspiração; diminuição no consumo de oxigênio; alterações na modulação autonômica cardíaca induzida pelo aumento da atividade parassimpática e, por fim, melhora na qualidade de vida destes pacientes. A RFL é considerada uma manobra de grande importância, por repercutir de forma positiva em diversos sistemas e sobre a qualidade de vida de pacientes portadores da DPOC.

Escuta de crianças com fissura labiopalatina na escola

INTRODUÇÃO: Grande similaridade entre o comportamento de pacientes com fissura labiopalatina e aqueles com transtorno de processamento auditivo são relatadas por pais e professores. OBJETIVO: Verificar a escuta de crianças com fissura labiopalatina em seis condições de escuta. MÉTODO: Professores de 224 escolares (7 a 11 anos) com fissura completaram um questionário, visando julgar a escuta do escolar no ruído, condição ideal, com múltiplos estímulos, no silêncio, quando solicitado recordar a informação ouvida e durante longo período de escuta, comparando-o ao de outro sem fissura de mesma idade e condição de escuta. Estudo Prospectivo. RESULTADOS: A média do julgamento (-0,08, desvio padrão de 0,27) dos alunos com fissura, realizado pelo professor, foi aproximadamente ao de mesma dificuldade (zero), quando comparado com o escolar sem fissura. Não foi encontrada significância estatística para qualquer uma das condições, nem para o valor total do questionário considerando os gêneros e as séries escolares. CONCLUSÃO: As características de escuta dos escolares com fissura labiopalatina foram similares ao de outro sem esta malformação craniofacial de mesma idade e condição de escuta semelhante. No ruído, quando a memória e a atenção auditiva são requeridas foram as condições mais difíceis.

Neotropical monogenoidea. 25. Anacanthorus penilabiatus n. sp. (Dactylogyridae, Anacanthorinae) from Piaractus mesopotamicus (Osteichthyes, Serrasalmidae), cultivated in the State of São Paulo, Brazil

Anacanthorus penilabiatus n. sp. is described from the serrasalmid fish, Piaractus mesopotamicus (Holmberg, 1887), cultivated in the Centro de Aqüicultura, Universidade Estadual Paulista. The new species is characterized by having a relatively straight copulatory organ with a long lip on the distal margin and a median longitudinal flap, and a copulatory ligament. The large size of the infrapopulations of this species of parasite indicates that it should be considered a potential agent causing losses in aquaculture of the fish host.

Comparison of behavioral and clinical effects of intravenous amitraz or romifidine administration in horses

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Exigências de uma semeadora-adubadora de precisão variando a velocidade e a condição da superfície do solo

O objetivo do trabalho foi avaliar o desempenho de um conjunto trator-semeadora-adubadora de quatro linhas, variando as marchas do trator e preparo do solo. A semeadura foi realizada em Latossolo Vermelho Eutroférrico. Os tratamentos foram: preparo do solo (convencional, reduzido e plantio direto) e marchas do trator (5,9km h-1 e 7,0km h-1), em delineamento de blocos casualizados em fatorial 3 x 2 com quatro repetições. Foram analisadas: velocidade de deslocamento, capacidade de campo operacional, consumo de combustível horário e por área, patinagem, força de tração e potência na barra. A velocidade, a patinagem e os consumos de combustível horário e por área foram maiores para a marcha M2 (7,0km h-1) e o conjunto trabalhando em área cujo preparo do solo foi realizado com escarificador apresentou maiores valores para os consumos de combustível horário e por área e também menor velocidade operacional.