DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling.

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OBJECTIVE:To understand crack cocaine craving among users and describe craving behaviors and coping strategies.

Lactococcus lactis, the model lactic acid bacterium (LAB), is a food grade and well-characterized Gram positive bacterium. It is a good candidate for heterologous protein delivery in foodstuff or in the digestive tract. L. lactis can also be used as a protein producer in fermentor. Many heterologous proteins have already been produced in L. lactis but only few reports allow comparing production yields for a given protein either produced intracellularly or secreted in the medium. Here, we review several works evaluating the influence of the localization on the production yields of several heterologous proteins produced in L. lactis. The questions of size limits, conformation, and proteolysis are addressed and discussed with regard to protein yields. These data show that i) secretion is preferable to cytoplasmic production; ii) secretion enhancement (by signal peptide and propeptide optimization) results in increased production yield; iii) protein conformation rather than protein size can impair secretion and thus alter production yields; and iv) fusion of a stable protein can stabilize labile proteins. The role of intracellular proteolysis on heterologous cytoplasmic proteins and precursors is discussed. The new challenges now are the development of food grade systems and the identification and optimization of host factors affecting heterologous protein production not only in L. lactis, but also in other LAB species.

We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.

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Medical records of 3,139 patients bitten by Bothrops snakes and attended at Vital Brazil Hospital (HVB) from 1981 to 1990 were reviewed. They were more frequent in males (75.7%). In 1,412 cases (45.0%) the snake was classified by species, and 1,376 were B. jararaca, 20 B. jararacussu, 11 B. neuwiedi, 2 B. moojeni, 2 B. alternatus e 1 B. pradoi. The most frequent bitten anatomic regions were: foot (47.5%) and hand (21.3%). Tourniquet was used in 38.2% of the cases and its frequency fell down during the study period (p < 0.05). The clinical features at the bite site were: pain (95.6%), swelling (95.4%), ecchymosis (56.1%), blisters (13.8%), necrosis (16.5%), and abscess (11.0%). Systemic manifestations were: bleeding (12.3%), acute renal failure (1.6%), and shock (0.7%). There were blood coagulation disorders in 1,730 (57.9%) of the 2,990 cases. There were 21 amputations (0.7%) and 9 deaths (0.3%). The average serum dose that was used in treatment fell down during the study period (p < 0.001).

Este estudo apresenta aspectos epidemiológicos e clínicos da violência contra a mulher, utilizando três fontes de dados: prontuários médicos do Hospital de Clínicas de Uberlândia, Minas Gerais, Brasil, (HCU); fichas de atendimento da ONG SOS Ação Mulher Família (ONG SOS Mulher); laudos de perícia de lesões corporais e de necropsias do Posto Médico Legal (PML). No HCU e no PML, os atendimentos foram decorrentes principalmente por agressão física, não havendo alusão à violência psicológica nos prontuários médicos e nos laudos, revelando que em serviços de atenção primária à saúde esta violência é evidenciada somente em pesquisas pós-entrevistas com as vítimas. Na ONG SOS Mulher foram observadas principalmente as violências psicológica e física. Nas três fontes pesquisadas houve baixa ocorrência da violência sexual, corroborando dados da literatura que retrata a invisibilidade desta questão, principalmente da violência sexual conjugal sofrida pelas mulheres que buscam ajuda nesses serviços. Os dados da presente pesquisa permitem concluir que os tipos de violência contra a mulher nesses três diferentes serviços públicos de saúde e social, em Uberlândia, diferenciam-se conforme as características específicas dos serviços oferecidos nessas instituições.