Estudo genético-clínico de mucopolissariodoses no estado do Ceará

As mucopolissacaridoses (MPS) são doenças genéticas raras decorrente da deficiência de enzimas lisossomais envolvidas no catabolismo de glicosaminoglicanos, resultando em um amplo espectro de manifestações clínicas, progressivas e multissistêmicas, exigindo tratamento por uma equipe multidisciplinar. Embora o Nordeste brasileiro seja uma região com grande taxa de consangüinidade e um efeito fundador envolvendo MPS, não há estudos caracterizando os pacientes dessa região. Nosso objetivo foi determinar o perfil epidemiológico, clínico e genético de casos não publicados com MPS provenientes do Ceará, identificando as diferenças entre outros estudos com MPS e possíveis problemas a serem enfrentados para a realização do diagnóstico precoce. O estudo foi seccional, descritivo, com amostra de pacientes com MPS em acompanhamento no Hospital Infantil Albert Sabin e Hospital Geral Cesar Cals no período de 2006-2013. Os dados foram obtidos a partir da avaliação clínica, revisão de prontuários médicos e entrevista com os pacientes e/ou familiares realizadas pelo investigador principal. Cinquenta e três pacientes foram incluídos no estudo (36 do sexo masculino), sendo 6 MPS I, 17 MPS II, 7 MPS III (3 MPSIII-A, 3 MPS III-B, 1 MPS III-C), 7 MPS IV-A, 16 de MPS VI. O óbito ocorreu em 16 casos (3 MPS I, MPS II 6, 1 MPS IIIA , IIIB 1MPS , 1 MPS IV , 4 MPS VI). A amostra foi composta principalmente por crianças. Houve elevada taxa de consangüinidade e recorrência familiar. Os tipos mais comuns foram MPS II e MPS VI. Exceto para macrossomia em MPS II, os dados de nascimento indicam que não houve risco para desenvolvimento de viii complicações perinatais. Os sintomas iniciaram em crianças com menos de 2 anos. As manifestações clínicas foram heterogêneas exceto para atraso no desenvolvimento neurológico em MPS III e manifestações esqueléticas em MPS IV. As principais características clínicas foram macrocefalia, baixa estatura, alterações odontológicas, respiratórias, cardíacas, hepatoesplenomegalia, hérnia umbilical, rigidez articular e anormalidades esqueléticas. A terapia de reposição enzimática foi instituída em 26 casos (4 MPS I, 10 MPS II, 12 MPS VI). Os problemas sócio-econômicos das famílias, o amplo espectro de sintomas e a gravidade da doença foram causas das dificuldades em realizar a avaliação periódica pela equipe multidisciplinar, além de exames complementares de maior custo para determinar as complicações da doença. Este foi o maior estudo transversal sobre MPS no Nordeste do Brasil. Em contraste com a maior incidência de MPS I na maioria das populações ocidentais, houve maior incidência de MPS II e VI. As alterações respiratórias foram um dos principais contribuintes para a mortalidade precoce, exceto nos casos de MPS I, em que a cardiomiopatia foi prevalente. A menor expectativa de vida ocorreu em MPS I. O envolvimento cognitivo foi comum em casos graves e o maior número de órgãos envolvidos representou maior risco de morrer. Para o diagnóstico precoce, deve-se buscar indivíduos afetados em famílias em que há parentes com MPS, além do maior reconhecimento de sinais e sintomas de MPS por profissionais de saúde

Comportamento de mergulho do boto-cinza, Sotalia guianensis, na enseada do Curral, Praia de Pipa-RN, Brasil :possíveis adaptações cardíacas ao mergulho

The marine tucuxi, Sotalia guianensis, is one of the smallest known cetaceans, has coastal habits, and occurs from Hondures to Santa Catarina, in southern Brazil. The objective of this dissertation was to describe diving behavior of the marine tucuxi in three age classes and to analyze the cardiac capacity to dive through the examination of hearts of stranded specimens. Observations were made from October 2004 to November 2005 from a vantage point, in Curral Bay at Pipa beach-RN. We used Ad Libitum sampling and All occurrences to record the behaviors. The diving was characterized by the total exposition of the tail fluke for a few seconds, in 90° or 45° angles. Were recorded 131 dives in three behavioral contexts: foraging, traveling and socialization. The difference between juveniles and adults in dive time and fluke out at 45° or 90° to search and/or capture prey is probably influenced by the strategy used and ability to capture the prey. The frequency of fluke out at 90° for foraging in adults may be related to increased physiological efficiency of adults in comparison to juveniles. However, in the context of travel and socialization the dive time and fluke out were independent between the age classes. Dive in calves were frequent during socialization (play behavior) and traveling. This, associated with synchronic calve-adult diving suggests that a relationship of these behaviors and the acquisition of experience and foraging skills. As observed in other cetaceans, the heart (n=12) of the estuarine dolphin is broad and presents long ventricles which form a round apex. The right ventricle is long and narrow. The degree of dilatation of the aortic bulb may support the heart during diastole. The characteristic morphology of the heart and short dive duration < 2 min and depth ranged from 10m in the estuarine dolphin, can be likely at physiological adaptation for diving, typical de dolphins with coastal habits. The limitation of diving time in this specie may be influenced by anatomical and physiological restrictions

Avaliação clínica e radiográfica das complicações técnicas em próteses sobre implantes

The evaluation criteria of the cases treated with dental implants are based on clinical and radiographic tests. In this context it is important to conduct research to determine prognosis of different types of prosthetic rehabilitation and determination of the main problems affecting this type of treatment. Thus, the objective of this study was to assess the prosthetic conditions of individuals rehabilitated with implant-supported prosthesis. In this cross-sectional study 153 patients were treated, accounting for a sample of 509 implants. The failures were observed by clinical and radiographic examination. The results showed that the fracture (0.2%) loss (0.4%) and loosening of the screws (3.3%) were failures are less frequent. The fracture structures as the resin (12.4%), porcelain (5.5%) and metallic (1.5%), loss of resin that covers the screw (23.8%) and loss of retention overdentures on implants (18.6%) had a higher occurrence. The failure of adaptation between the abutment and the implant (6.9%) and especially between the prosthesis and the abutment (25.4%) had a high prevalence and, when related to other parameters showed a significant association, particularly with the cemented prosthesis (OR = 6.79). It can be concluded that to minimize the appearance of failures, protocols must be observed from diagnosis to the settlement and control of prostheses on implants, particularly with respect to technical steps of the making of the prosthesis and care in radiographic evaluating the fit between their components

Falhas e complicações com o uso de prótese parcial removível inferior de extremidade livre bilateral

Aim: To determine the frequency and type of complications related to removable partial denture (RPD) less, Kennedy Class I, over time . Materials and Methods: This observational study consisted of a sample of 65 users PPR lower arches in Kennedy Class I and dentures, rehabilitated in the Department of Dentistry, Federal University of Rio Grande do Norte (UFRN). Patients were followed through periodic controls during periods of 60 days, 6 months and 1 year from installation. After the first year of control had other returns annually. The occurrence of complications or prosthetic failure was observed and recorded in a specific clinical record over 39 months. The patterns of failures observed were classified in the following situations: occurrence of traumatic ulcers after 2 months of installation, lack of retention, fracture or caries in the rest, fracture or dislocation of the artificial teeth, the larger connector fracture, fracture clip fracture support, poor support (need to reline the denture) and prosthesis fracture. Results: The incidence of complications was low frequency, being higher in the second year of use of the prosthesis. Among the complications that occurred more is the loss of retention (31.57%). Failures more severe and difficult to solve as the fracture elements of the metal structure of the PPR had low occurrence and were represented by only one case of the larger connector (5.3%) fractures. Conclusion: Removable partial dentures mandibular free end opposing of the conventional dentures have a low complication rate after 39 months of use when subjected to periodic controls