Análise do gene TUBB3 e de Copy Number Variations em pacientes com Polimicrogiria

A polimicrogiria (PMG) é uma malformação do córtex cerebral causada por falhas no seu desenvolvimento, caracterizando-se por um número excessivo de pequenos giros e laminação anormal, dando à superfície cortical uma aparência irregular e grosseira. A gravidade de suas manifestações clínicas se relaciona diretamente com a extensão da malformação e das regiões cerebrais afetadas, sendo que a presença de lesões bilaterais ou unilaterais extensas indica um pior prognóstico. Uma das síndromes de polimicrogiria mais freqüentes e, conseqüentemente, mais bem descritas clinicamente, é a polimicrogiria perisylviana bilateral (PPB). Essa forma de PMG atinge a região que tange a fenda Sylviana, podendo apresentar-se tanto unilateralmente quanto em ambos os hemisférios. Vários genes têm sido relacionados a diferentes formas de polimicrogiria, são eles AFF2,TUBA1A, TUBB2B e TUBA8, SRPX2 e WDR62. Estes genes já foram estudados pelo nosso grupo de pesquisa em um grupo de pacientes compostos de casos familiares e esporádicos, acometidos em sua maioria pela forma perisylviana de PMG. Nenhuma variante deletéria foi identificada nestes genes. Recentemente um novo gene foi implicado na etiologia molecular das PMG, o TUBB3. O gene em questão pertence à mesma família de TUBA1A, TUBB2B e TUBA8 e codifica uma proteína de ligação aos microtúbulos, tendo importante papel na formação do fuso. Além deste gene, também tem sido descritas alterações genômicas, denominadas de Copy Number Variations (CNV), estas variações estruturais tem sido associadas com diversos distúrbios neurológicos, que vão desde transtornos psiquiátricos até malformações do córtex cerebral como a PMG. Desta forma, o objetivo deste trabalho foi analisar a existência de alterações de ponto deletérias no gene TUBB3 em pacientes com PMG e também, o envolvimento de CNVsna etiologia deste tipo de malformação ...

Deslocamento do abomaso à esquerda em bovinos leiteiros: da etiologia ao diagnóstico

A pecuária leiteira vem sofrendo ao longo dos últimos anos, constantes mudanças com o intuito de maximizar a produção. A contínua seleção para uma maior produção de leite em conjunto com o aumento da capacidade digestiva e profundidade corporal aumentou a susceptibilidade de ocorrência de várias enfermidades abomasais, como o deslocamento do abomaso. O deslocamento de abomaso é uma doença economicamente importante na bovinocultura leiteira e é definido como uma síndrome multifatorial onde há basicamente duas possibilidades de deslocamento, na primeira, a víscera pode deslocar-se à esquerda, causando o deslocamento do abomaso à esquerda e a segunda possibilidade, o órgão pode mover-se totalmente para o lado direito, provocando o deslocamento do abomaso à direita, sendo que o primeiro ocorre mais frequentemente. O período de maior ocorrência do deslocamento do abomaso à esquerda, se insere imediatamente ou até seis semanas após o parto. Assim, objetivou-se com essa revisão sistemática, elucidar as principais causas e fatores de risco, os variados sinais clínicos e os diversos métodos diagnósticos dessa enfermidade. Conclui-se que, é de extrema importância conhecer desde a causa, até o diagnóstico do deslocamento do abomaso à esquerda, para que auxilie os médicos veterinários a identificarem o problema na propriedade, direcioná-lo a um tratamento adequado e tomar medidas preventivas, eliminando os fatores de risco e consequentemente diminuindo a incidência do problema.

Cárie oculta extensa: relato de caso clínico

The pattern of caries lesions has been modified over decades. If the presence or absence of a caries lesion is based upon only a visual examination, its diagnosis might become underestimated since dentinal lesions underneath non cavitated or minimally demineralized enamel is highly frequent in dental clinics. The aim of this paper is to report a clinical case of a child with an upper molar with questionable occlusal aspect, presenting asymptomatic pulpal hyperplasia on the distolingual pit. Periapical radiographic examination was essential for diagnosing hidden caries and elaborating the treatment plan. As part of the approach, removal of the decayed tissue and pulpotomy with calcium hydroxide were performed. The association of an accurate visual examination to an adequate oral radiographyis is extremely important in cases which the presence of hidden caries is doubtful. As a result, an early diagnosis and the reduction of more invasive interventions related to the oral health care of pediatric patients can be achieved as well.

Infra-oclusão de molares decíduos: diagnóstico e tratamento

Infraocclusion of deciduous molars is defined by total or partial periodontal ligament absence and characterized by the cementum or dentin anatomical fusion with alveolar bone. This study aims to report an ankylosis clinical case, the implications and treatments management options in the deciduos dentition.

O papel do NGAL urinário como preditor diagnóstico e prognóstico da lesão aguda associada a sepse em pacientes admitidos na emergência clínica

Pós-graduação em Fisiopatologia em Clínica Médica - FMB

Identificação molecular por reação em cadeia da polimerase multiplex para espécies do gênero Candida de importância médica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Relação entre presença de anticorpos anti-leishmania spp. e carga parasitária em sangue de cães de área endêmica para leishmaniose visceral

Pós-graduação em Ciência Animal - FMVA

Trueperella pyogenes multispecies infections in domestic animals: a retrospective study of 144 cases (2002 to 2012)

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

Short-term prophylaxis with ciprofloxacin in extended 16-core prostate biopsy

Objective: To evaluate the safety, efficacy and possible complications of 16-core transrectal prostate biopsies using two doses of ciprofloxacin for prophylaxis of infectious complications.Materials and Methods: Sixteen-core prostate biopsies were performed on a number of patients with different signs of potential prostate cancer. Complications were assessed both during the procedure and one week later. After the procedure, urine samples were collected for culture. The rate of post-biopsy complications, hospital visits and hospitalizations were also analyzed. Ciprofloxacin (500 mg) was administered two hours before, and eight hours after the procedure.Results: The overall rate of post-biopsy complications was 87.32%, being 5.4% of those considered major complications due to hemorrhage, or to urinary retention. Eight patients required hospital treatment post-biopsy. Fever occurred in just one patient (0.29%). There was no incidence of orchitis, epididymitis, prostatitis, septicemia, hospitalization, or death. The urine culture showed positive results in five patients (2.15%).Conclusion: One-day prophylaxis with ciprofloxacin proved to be safe and effective in the prevention of infectious complications following 16-core prostate biopsies.

Validation of absolute quantitative real-time PCR for the diagnosis of streptococcus agalactiae in fish

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

Genotipagem dos isolados de Giardia duodenalis em famílias de pescadores da colônia de Porto Said, Botucatu, São Paulo

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

Dor orofacial

The orofacial pain, also known by the generic term dysfunction, is highly prevalent in the general population, causing great discomfort to the patients. For this reason, there is great importance of dentist’s participation in practice and in the process of proper diagnosis of this disease, which in modern times has become increasingly important as guides the best treatment. Thus, this study was aimed to review the main causes, diagnosis, main symptoms and treatment modalities, to serve as a guide to the dentist. Moreover, it also aims to review the main etiologic factors commonly associated, as emotional stress and muscular hyperactivity, to clearly identify signs and symptoms, so the dentist is able to realize simple treatment in your particular office or recognizes complex cases that could be send for treatment to multidisciplinary teams.

Aspectos oclusais na etiologia das desordenstemporomandibulares

Since the occlusion area is presented in almost all specialties of Dentistry, its relationship with the health of the patient has been shown. The etiology of temporomandibular disorders is multifactorial and the occlusion is considered an etiologic factor. This study aimed to discuss the functional occlusion aspects and the presence of temporomandibular disorders. Literature Review: The loss of orthopedic balance can induce temporomandibular disorder. Therefore, both the physiological and functional occlusions have been analyzed as a dental relation. Several functional occlusal factors have been linked to the temporomandibular disorders such as deviations of centric relation to maximum intercuspation, occlusal interferences, absence of posterior teeth, changes on the occlusion vertical dimension, malocclusion, orthodontic treatment and parafunction. Conclusion: The most common occlusal factors related to temporomandibular disorders are quite frequent; however, the diagnosis and treatment of such disorders should be considered individually

Mordida cruzada posterior, correccion y consideraciones: caso clínico con 7 años de seguimiento

Early treatment of functional unilateral posterior crossbite during the mixed dentition is extremely important for contemporary Orthodontics, provides the correct positioning of osseous bases, teeth and temporomadibular joint when the stomatognathic system is in growth and development. These results generally develop into an adequate craniofacial relationship, reducing the necessity for more complex treatments at permanent dentition. The subject of this paper was to report patient 8 years old, diagnosed with functional unilateral posterior crossbite, and was treated by an expander appliance type Quad-helix emphasizing the long-term stability. The malocclusion was corrected in 3 months of active use of the appliance, 3 months for retention purposes and followed up during 7 years post-treatment. The stability in long term of functional unilateral posterior crossbite treated is closely related with early diagnostic, the elimination of the etiological factor associated with a correct appliance and the mechanic of treatment.

Staphylococcal enterotoxins: molecular aspects and detection methods

Members of the Staphylococcus genus, especially Staphylococcus aureus, are the most common pathogens found in hospitals and in community-acquired infections. Some of their pathogenicity is associated with enzyme and toxin production. Until recently, S. aureus was the most studied species in the genus; however, in last few years, the rise of infections caused by coagulase-negative staphylococci has pointed out the need for further studies on virulence factors that have not yet been completely elucidated so as to better characterize the pathogenic potential of this group of microorganisms. Several staphylococcal species produce enterotoxins, a family of related proteins responsible for many diseases, such as the toxic-shock syndrome, septicemia and food poisoning. To this date, 23 different enterotoxin types have been identified besides toxic-shock syndrome toxin-1 (TSST-1), and they can be divided into five phylogenetic groups. The mechanism of action of these toxins includes superantigen activity and emetic properties, which can lead to biological effects of infection. Various methods can detect genes that encode enterotoxins and their production. Molecular methods are the most frequently used at present. This review article has the objective to describe aspects related to the classification, structure and regulation of enterotoxins and toxic-shock syndrome toxin-1 detection methods.