655 research outputs found

    Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome

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    <p>Abstract</p> <p>Purpose</p> <p>Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and OSS as a symptom complex rather than a diagnosis.</p> <p>Methods</p> <p>Detailed clinical and radiographic examinations were undertaken with emphasis on the role of MRI imaging. Magnetic resonance imaging may allow early prediction of articular lesion healing potential in patients with Stickler syndrome.</p> <p>Results</p> <p>The phenotype of Stickler syndrome can be diverse and therefore misleading. The expectation that the full clinical criteria of any given genetic disorder such as Stickler syndrome will always be present can easily lead to an underestimation of these serious inheritable disorders. We report here two family subjects, a male proband and his aunt (paternal sister), both presented with the major features of Stickler syndrome. Tall stature with marfanoid habitus, astigmatism/congenital vitreous abnormality and submucus cleft palate/cleft uvula, and enlarged painful joints with early onset osteoarthritis. Osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) were the predominating joint abnormalities.</p> <p>Conclusion</p> <p>We observed that the nature of the articular and physeal abnormalities was consistent with a localised manifestation of a more generalised epiphyseal dysplasia affecting the weight-bearing joints. In these two patients, OCD and OSS appeared to be the predominant pathologic musculoskeletal consequences of an underlying Stickler's syndrome. It is empirical to consider generalised epiphyseal dysplasia as a major underlying causation that might drastically affect the weight-bearing joints.</p

    Kinematic analisys of the knee when climbing up/down stairs in patellofemoral instability

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    OBJECTIVE: To analyze and to identify possible gait adaptations by individuals with objective patellofemoral instability when climbing up/down stairs. METHODS: A control group (group A) composed by nine women with mean age = 25 years (±1.87), height = 1.62 m (±0.05) and weight = 56.20 kg (±7.34), and; nine women with objective patellofemoral instability (group B) with mean age = 24 years (±6.02), height = 1.62 m (±0.06) and weight = 60.33 kg (±10.31) were analyzed. The groups underwent kinematic analysis while climbing up/down stairs, in a previously determined area. Images were obtained by six cameras (Qualysis) and data analysis utilized the Q gait software program. RESULTS: Group B presented, in the support phase, less knee flexion when climbing up (p = 0.0268), and lower speed (p = 0.0076/ p =0.0243) and pace (p = 0.0027/ p = 0.0165) when climbing up and down stairs, respectively. CONCLUSION: It is suggested that group B used functional changes such as reduced knee flexion, speed and pace when climbing up and down stairs.OBJETIVO: Analisar e identificar possíveis adaptações da marcha em indivíduos com diagnóstico de instabilidade patelofemoral objetiva, durante a atividade de subida e descida de escada. MÉTODOS: Foram analisados um grupo controle (grupo A), composto por 9 mulheres com média de idade de 25 anos (±1,87), média de altura de 1,62m (±0,05) e média de peso de 56,20kg (±7,34); e, um grupo de 9 mulheres com instabilidade patelofemoral objetiva (grupo B), média de idade de 24 anos (±6,02), média de altura de 1,62m (±0,06) e média de peso de 60,33kg (±10,31). Os grupos foram submetidos a uma análise cinemática, onde as voluntárias subiram e desceram degraus, em uma área previamente selecionada. As imagens foram obtidas por seis câmeras (Qualysis) e a análise dos dados foi realizada através do programa Q gait. RESULTADOS: O grupo B apresentou, no período de apoio, menor flexão do joelho durante a subida (p=0,0268), além de menores velocidade (p=0,0076/ p=0,0243) e cadência (p=0,0027/ p=0,0165) na subida e na descida, respectivamente. CONCLUSÃO: Sugere-se que o grupo B utilizou adaptações funcionais como redução da flexão do joelho, da velocidade e da cadência, durante a subida e a descida de degraus.UNICAMP FCM Departamento de Ortopedia e TraumatologiaUniversidade Federal de São Paulo (UNIFESP)UNIFESPSciEL

    Infant and child feeding practices: a preliminary investigation

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    The document attached has been archived with permission from the Australian Dental Association. An external link to the publisher’s copy is included.The objective of this preliminary investigation was to examine the feeding practices of infants and pre-school children in Adelaide, and thereby contribute to the development of appropriate preventive dental strategies. A stratified random sample of 160 two year old and three year old pre-school children in the Adelaide Statistical District was obtained. Information about feeding practices and use of comforters or ‘dummies’ was obtained through a self-administered questionnaire completed by parents of the selected children. Information was collected for the age periods of 0–3 months, 4–6 months, 7–12 months, 13–24 months and 25–36 months. Most of the children (81.8 per cent) were breast-fed at some stage. However the percentage of children being breast-fed decreased markedly across age periods, particularly to 13–24 months, when only 15.9 per cent of children were being breast-fed. Over half of the children had been bottle-fed with infant formula at some stage. The highest percentage of children being bottle-fed with infant formula occurred in the 4–6 months (42.6 per cent) closely followed by the 7–12 months age period (37.4 per cent). Nearly two-thirds of children were bottle-fed with cow's milk at some stage. The highest percentage of children being bottle-fed with cow's milk occurred in the 13–24 months age period (49.6 per cent). A quarter (24.5 per cent) of the children were put to bed at some stage with a bottle containing cariogenic fluids. The majority of children used a ‘dummy’ at some stage during both day-time and night-time. Parents are in need of advice on appropriate feeding patterns for infants and young children.Amjad H. Wyne,A. John Spencer and Fearnley S. Szuste

    Otodental syndrome

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    The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary

    Species-speciWc defense strategies of vegetative versus reproductive blades of the PaciWc kelps Lessonia nigrescens and Macrocystis integrifolia

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    Chemical defense is assumed to be costly and therefore algae should allocate defense investments in a way to reduce costs and optimize their overall fitness. Thus, lifetime expectation of particular tissues and their contribution to the fitness of the alga may affect defense allocation. Two brown algae common to the SE Pacific coasts, Lessonia nigrescens Bory and Macrocystis integrifolia Bory, feature important ontogenetic differences in the development of reproductive structures; in L. nigrescens blade tissues pass from a vegetative stage to a reproductive stage, while in M. integrifolia reproductive and vegetative functions are spatially separated on different blades. We hypothesized that vegetative blades of L. nigrescens with important future functions are more (or equally) defended than reproductive blades, whereas in M. integrifolia defense should be mainly allocated to reproductive blades (sporophylls), which are considered to make a higher contribution to fitness. Herein, within-plant variation in susceptibility of reproductive and vegetative tissues to herbivory and in allocation of phlorotannins (phenolics) and N-compounds was compared. The results show that phlorotannin and N-concentrations were higher in reproductive blade tissues for both investigated algae. However, preferences by amphipod grazers (Parhyalella penai) for either tissue type differed between the two algal species. Fresh reproductive tissue of L. nigrescens was more consumed than vegetative tissue, while the reverse was found in M. integrifolia, thus confirming the original hypothesis. This suggests that future fitness function might indeed be a useful predictor of anti-herbivore defense in large, perennial kelps. Results from feeding assays with artificial pellets that were made with air-dried material and extract-treated Ulva powder indicated that defenses in live algae are probably not based on chemicals that can be extracted or remain intact after air-drying and grinding up algal tissues. Instead, anti-herbivore defense against amphipod mesograzers seems to depend on structural traits of living algae

    Amelogenesis imperfecta

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    Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, sensitive or prone to disintegration. AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamelin gene, ENAM, is implicated in the pathogenesis of the dominant forms of AI. Autosomal recessive AI has been reported in families with known consanguinity. Diagnosis is based on the family history, pedigree plotting and meticulous clinical observation. Genetic diagnosis is presently only a research tool. The condition presents problems of socialisation, function and discomfort but may be managed by early vigorous intervention, both preventively and restoratively, with treatment continued throughout childhood and into adult life. In infancy, the primary dentition may be protected by the use of preformed metal crowns on posterior teeth. The longer-term care involves either crowns or, more frequently these days, adhesive, plastic restorations
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