No description available.

No description available.

No description available.

This work deals with a new approach of designing ortho-prosthetic devices in terms of mechanical solution and innovative design. The work was addressed to a specific patient with congenital malformation of upper limbs called phocomelia. A custom-made compensatory aid was made on basis of personal consultations and meetings on specialized workplace; however the aid was built in a way and from parts for other kind of disability. As it turned out, the use of this equipment is associated with many complications, and therefore as a result, this solution proved as unsatisfactory. Nevertheless, thanks to this compensation aid it was possible to specify the problems, to reveal important patterns and highlight the needs for development of entirely new and unique aid designed for patients with phocomelia disability. The work is based on these findings and knowledge acquired from bibliographic search in the field of orthotics, prosthetics, assistive devices and prosthetic equipment. A complete redesign was done with the aim to eliminate all detected problems. The presented result is a unique tool for people with specific congenital disability of upper limbs, with working label 4TE.

A Ipomoea carnea, pertencente à família das Convolvulaceae, é uma planta tóxica que tem ampla distribuição pelo país, tendo como principal princípio ativo a suainsonina. É uma das poucas plantas que se conserva verde durante a seca, podendo servir como fonte de matéria verde para bovinos, ovinos e caprinos, é nesse período, quando normalmente ocorrem os casos de intoxicação, sendo a espécie caprina a mais susceptível. Até o momento, não há relatos sobre efeitos tóxicos desta planta em conseqüência da possível passagem transplacentária da suainsonina. Assim, o objetivo do presente estudo foi avaliar os possíveis efeitos teratogênicos da I. carnea, em caprinos. Foram usados 20 cabras, divididas em 4 grupos iguais: 3 experimentais e 1 controle. As cabras dos grupos experimentais receberam a partir do 27° dia de prenhez até o final da gestação 1,0; 5,0 e 7,5 glkg/dia de I. carnea. Nas fêmeas gestantes foi feito o exame clínico periódico, colheita de sangue para avaliação do hemograma e bioquímica sanguínea, exames fetais ultra-sonográficos (US) e acompanhamento do parto. Ao nascimento, todos os filhotes foram avaliados para identificação de malformações, alguns foram submetidos à eutanásia, para a realização do estudo anatomopatológico e nos demais avaliou-se o ganho de peso, hemograma e bioquímica sanguínea. Os resultados obtidos mostraram que apenas as fêmeas que receberam 7,5g/kg de I.carnea apresentaram sintomatologia nervosa. No estudo US feito na 5°, 7° e 9° semana, observou-se redução significante dos movimentos fetais, de todos os animais experimentais. Alterações hematolágicas e na bioquímica sérica (como o aumento dos níveis sérico de glicose, aspartato amino transferase, uréia, fosfatase alcalina, albumina e diminuição dos níveis sé ricos de gama-glutamil transferase e colesterol) foram observadas em cabras dos grupos experimentais. No estudo histopatológico foram observadas vacuolizacões em diversos tecidos (fígado, rim e no sistema nervoso central). Na 10° semana de gestação uma cabra, tratada com a maior dose, abortou espontaneamente um feto, o qual apresentou artrogripose e ausência do fechamento da cavidade abdominal. Ao nascimento, verificou-se a ocorrência de mal formações fetais em filhotes caracterizada por retroagnatia, contratura congênita múltipla dos membros e artrogripose. Estes achados permitem concluir, que a ingestão da I. carnea durante a gestação de cabras, além de causar toxicidade materna, pode causar efeitos teratogênicos e que o US pode ser útil para acompanhar a ocorrência de efeitos nocivos desencadeados pela planta, durante a vida intra-uterina. / Ipomoea carnea (Convolvulaceae) is a toxic plant largely distributed throughout Brazil. The alkaloid swainsonine is the major active compound present in the plant. I. Carnea is resistent to drought, serving during this adverse climatic condition as a food source for cattle, sheeps and goats. It is well known that the ingestion of the plant promotes toxic effects to the animais, in particular to goats, the most susceptible specie. There are no reports about toxic effects of the plant to fetuses as a consequence of a possible placental transportation of the compound swainsonine. The objective of the present study was to evaluate the possible teratogenic effects of I. Carnea in goats. In the study 20 female goats were employed, divided into 4 groups: 3 experimental and 1 control. The experimental goats received from gestation day (GD) 27 to parturition day 1.0, 5.0 or 7.5 g/Kglday of I.carnea fresh leaves. Duringpregnancy the females were periodically accompanied by hematologic studies as hemograms and serum biochemical assays, ultrasonographic (US) fetuses assays and were accompanied during parturition. At post-natal day (PND) 01 ali the pups were evaluated for identificationof physical anormalities. Some were euthanized for histopathologic studies and the others had weight gain, hemograms and biochemical blood tests recorded during development. The obtained data showed that only the 7.5 g/Kg/day treated dams presented neurologic effects. The US study realized at the 5th,6thand th weeks of gestation, showed that ali the experimental groups presented significant reduction of the fetal intrauterine moviments. Hematologic and serum blood biochemical alterations (Iike increased levels of glucose, aspartate-amine transferase, urea, alkaline phosphatase, albumine and reduced levels of gamma-glutamyl transferase and cholesterol) were observed in goats of the experimental groups. The histopathologic study showed vacuolization in several tissues (liver,kidneys and brain). At the 10thweek of gestation one goat, treated with the increased dose, aborted a fetus. This fetus presented arthrogriposis and no closure of the abdominal cavity.At parturition(PND01) fetal malformationswere observed and characterized as retrognatia, multiple congenit contracture of the members and arthrogriposis. The present data showed that I. Carnea ingestion by pregnant goats promoted maternal toxicityand fetal teratogenic effects. In addition, the US showed to be an important tool to monitorize the toxic effects promoted by the plant ingestion during intrauterine life.

A Ipomoea carnea, pertencente à família das Convolvulaceae, é uma planta tóxica que tem ampla distribuição pelo país, tendo como principal princípio ativo a suainsonina. É uma das poucas plantas que se conserva verde durante a seca, podendo servir como fonte de matéria verde para bovinos, ovinos e caprinos, é nesse período, quando normalmente ocorrem os casos de intoxicação, sendo a espécie caprina a mais susceptível. Até o momento, não há relatos sobre efeitos tóxicos desta planta em conseqüência da possível passagem transplacentária da suainsonina. Assim, o objetivo do presente estudo foi avaliar os possíveis efeitos teratogênicos da I. carnea, em caprinos. Foram usados 20 cabras, divididas em 4 grupos iguais: 3 experimentais e 1 controle. As cabras dos grupos experimentais receberam a partir do 27° dia de prenhez até o final da gestação 1,0; 5,0 e 7,5 glkg/dia de I. carnea. Nas fêmeas gestantes foi feito o exame clínico periódico, colheita de sangue para avaliação do hemograma e bioquímica sanguínea, exames fetais ultra-sonográficos (US) e acompanhamento do parto. Ao nascimento, todos os filhotes foram avaliados para identificação de malformações, alguns foram submetidos à eutanásia, para a realização do estudo anatomopatológico e nos demais avaliou-se o ganho de peso, hemograma e bioquímica sanguínea. Os resultados obtidos mostraram que apenas as fêmeas que receberam 7,5g/kg de I.carnea apresentaram sintomatologia nervosa. No estudo US feito na 5°, 7° e 9° semana, observou-se redução significante dos movimentos fetais, de todos os animais experimentais. Alterações hematolágicas e na bioquímica sérica (como o aumento dos níveis sérico de glicose, aspartato amino transferase, uréia, fosfatase alcalina, albumina e diminuição dos níveis sé ricos de gama-glutamil transferase e colesterol) foram observadas em cabras dos grupos experimentais. No estudo histopatológico foram observadas vacuolizacões em diversos tecidos (fígado, rim e no sistema nervoso central). Na 10° semana de gestação uma cabra, tratada com a maior dose, abortou espontaneamente um feto, o qual apresentou artrogripose e ausência do fechamento da cavidade abdominal. Ao nascimento, verificou-se a ocorrência de mal formações fetais em filhotes caracterizada por retroagnatia, contratura congênita múltipla dos membros e artrogripose. Estes achados permitem concluir, que a ingestão da I. carnea durante a gestação de cabras, além de causar toxicidade materna, pode causar efeitos teratogênicos e que o US pode ser útil para acompanhar a ocorrência de efeitos nocivos desencadeados pela planta, durante a vida intra-uterina. / Ipomoea carnea (Convolvulaceae) is a toxic plant largely distributed throughout Brazil. The alkaloid swainsonine is the major active compound present in the plant. I. Carnea is resistent to drought, serving during this adverse climatic condition as a food source for cattle, sheeps and goats. It is well known that the ingestion of the plant promotes toxic effects to the animais, in particular to goats, the most susceptible specie. There are no reports about toxic effects of the plant to fetuses as a consequence of a possible placental transportation of the compound swainsonine. The objective of the present study was to evaluate the possible teratogenic effects of I. Carnea in goats. In the study 20 female goats were employed, divided into 4 groups: 3 experimental and 1 control. The experimental goats received from gestation day (GD) 27 to parturition day 1.0, 5.0 or 7.5 g/Kglday of I.carnea fresh leaves. Duringpregnancy the females were periodically accompanied by hematologic studies as hemograms and serum biochemical assays, ultrasonographic (US) fetuses assays and were accompanied during parturition. At post-natal day (PND) 01 ali the pups were evaluated for identificationof physical anormalities. Some were euthanized for histopathologic studies and the others had weight gain, hemograms and biochemical blood tests recorded during development. The obtained data showed that only the 7.5 g/Kg/day treated dams presented neurologic effects. The US study realized at the 5th,6thand th weeks of gestation, showed that ali the experimental groups presented significant reduction of the fetal intrauterine moviments. Hematologic and serum blood biochemical alterations (Iike increased levels of glucose, aspartate-amine transferase, urea, alkaline phosphatase, albumine and reduced levels of gamma-glutamyl transferase and cholesterol) were observed in goats of the experimental groups. The histopathologic study showed vacuolization in several tissues (liver,kidneys and brain). At the 10thweek of gestation one goat, treated with the increased dose, aborted a fetus. This fetus presented arthrogriposis and no closure of the abdominal cavity.At parturition(PND01) fetal malformationswere observed and characterized as retrognatia, multiple congenit contracture of the members and arthrogriposis. The present data showed that I. Carnea ingestion by pregnant goats promoted maternal toxicityand fetal teratogenic effects. In addition, the US showed to be an important tool to monitorize the toxic effects promoted by the plant ingestion during intrauterine life.

Orientador: Agnes Cristina Fett Conte / Banca: Roseli Maria Zechi Ceide / Banca: Luiz Carlos de Mattos / Resumo: Os defeitos congênitos resultam de causas genéticas e não genéticas, afetam cerca de 3 a 5% dos recém-nascidos e são reconhecidos como uma das maiores causas de morbidade e mortalidade no primeiro ano de vida, além de serem a causa de muitas mortes embrionárias e fetais. Possuem etiologia e fatores de risco variados, muitos ainda desconhecidos. Dados epidemiológicos brasileiros são escassos. O estudo dos fatores epidemiológicos pode ampliar o conhecimento sobre tais defeitos e propiciar estratégias de prevenção, além do Aconselhamento Genético adequado para as famílias envolvidas. O presente trabalho realizou um estudo genético clínico prospectivo de todos os recém-nascidos e natimortos com defeitos congênitos atendidos no período de um ano no Hospital de Base de São José do Rio Preto/SP (HB), com o objetivo de estimar a prevalência, caracterizar em tipos de doenças, diagnósticos ou categorias diagnósticas, verificar as possíveis causas e consequências dos defeitos. Para cada criança foi realizada a análise cariotípica (nos casos indicados), a avaliação física, o registro fotográfico, análise de dados de prontuário médico e coleta de informações complementares com a família. Foram estudados 110 indivíduos, 103 recém-nascidos e sete natimortos. A prevalência foi de 2,8%. Em 82% dos casos o diagnóstico específico pode ser sugerido. Os defeitos congênitos de etiologia genética foram mais frequentes que os de etiologia não genética. Os de herança multifatorial foram os mais freqüentes (29%), seguidos dos de etiologia heterogênea (22%), monogênica (19%), desconhecida (13,5%), cromossômica (12%) e ambiental (4,5%). A idade materna, a consangüinidade parental e a predisposição familial (presença de defeitos congênitos na família) foram alguns fatores de risco identificados. A maioria dos afetados eram prematuros e a hospitalização... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Birth defects, resulting from genetic and non-genetic causes, affect about 3 to 5% of newborns and are recognized as a major cause of morbidity and mortality within the first year of life, as well as being the cause of many embryonic and fetal deaths. Not infrequently the varied etiology and risk factors remain unknown. Brazilian epidemiological data are scarce. The study of epidemiological factors may increase knowledge about these defects and make prevention strategies and genetic counseling possible for affected families. This work constitutes a prospective clinical genetic study of all newborn and stillborn infants with birth defects seen over one year in Hospital de Base in São José do Rio Preto, Sao Paulo, in order to estimate the prevalence, characterize the disease types, diagnoses or diagnostic categories and evaluate possible causes and consequences of the defects. Karyotypic analysis, a physical assessment, photographic records, an analysis of the patients' medical records and the collection of additional information with the family was performed for each infant. The study assessed 103 newborn and 7 stillborn subjects. The prevalence of birth defects was of 2.8%. A specific diagnosis was suggested in 82% of cases. Genetically-related birth defects were more prevalent than those with non-genetic etiology. Infants with multifactorial inheritance patterns were the most common (29%), followed by heterogeneous etiology (22%), monogenic inheritance patterns (19%), unknown (13,5%), chromosomal etiologies (12%) and environmental factors (4.5%). Maternal age, parental consanguinity and family susceptibility (the presence of defects in the family) were some of the identified risk factors. Most affected infants were premature and the most commonly observed consequences were prolonged hospital stays and death. Hence, birth defects are frequent in the population; several causes are... (Complete abstract click electronic access below) / Mestre

Born and educated for the most part in the United States, I have enjoyed the luxury of excellent mentorship during my career thus far as an independent scientist in France. All these mentors have taken it on trust that my training for a Ph.D. also included the necessary tools for directing original research responsibly, at all levels. However, the habilitation is an obligate rite of passage for researchers in France, Germany, Sweden and a number of other European countries. It ensures both that I am competent to not only continue to conduct original research, and that I have a directive seam in my research interests over time that is sufficiently rich to support myself and those trainees who will learn from my experience and contribute their efforts by my side to advancing science. To demonstrate that the faith of these esteemed colleagues has been well-placed since my Ph.D., I hereby present, to the best of my ability, my acquired credentials and my near- to mid-term projects. The over-arching theme of my work has been to identify molecular hallmarks and improve the physiopathological understanding of congenital and progressive conditions implicating a highly plastic embryological cell population known as the neural crest. These neural crest cells (NCC) participate directly or indirectly in the formation of a stunning array of tissues organs during embryogenesis. When the genes regulating the differentiation, proliferation, or migratory and appropriately invasive behavior of NCC are muted, this can lead to associations of pediatric congenital malformations or tumorigenesis. I make use of avian and, more recently, murine models, as well as careful observations effected on tissues derived from normal human embryos, to tease apart those mechanisms.

No description available.

This study devised a method to detect Ribeiroia ondatrae (class Trematoda) in water-bodies using environmental DNA (eDNA) collected from filtered water samples from selected ponds in the USA and Canada. Species-specific PCR primers were designed to target the Internal Transcribed Spacer-2 (ITS-2) region of the parasite’s genome. The qualitative PCR method was 70% (n=10) accurate in detecting R. ondatrae in ponds previously found to contain the parasite, while the qPCR method was 88.9% (n=9). To examine how the retinoic acid (RA) pathway gene expression may be perturbed during R. ondatrae infections, leading to limb development abnormalities in the wood frog (Lithobates sylvaticus). Multiple sequence alignments were used to design degenerate PCR primers to eight RA biosynthesis genes, but only two gene fragments were identified using this approach. Without effective primer sets it was not possible to measure changes in gene expression in infected frogs.