Long-term Follow Up of Van Nes Rotationplasty for Proximal Focal Femoral Deficiency

Proximal focal femoral deficiency (PFFD) is a congenital anomaly that presents challenges for orthopaedic and prosthetic management. The Van Nes rotationplasty is one treatment in which the extremity is surgically rotated to utilize the ankle and foot as a functional knee joint in a prosthesis. The purpose of this study is to determine the long-term functional and quality of life (QOL) outcomes for individuals who have undergone rotationplasty surgery for congenital PFFD compared to age and gender matched controls

Long-term Follow up of Van Nes Rotationplasty for Congenital Proximal Focal Femoral Deficiency [Proceedings]

INTRODUCTIONProximal focal femoral deficiency (PFFD) is a congenital anomaly that presents challenges for orthopaedic and prosthetic management. The Van Nes rotationplasty is one treatment in which the extremity is surgically rotated to utilize the ankle and foot as a functional knee joint in a prosthesis. The purpose of this study is to determine the long-term functional and quality of life (QOL) outcomes for individuals who have undergone rotationplasty surgery for congenital PFFD compared to age and gender matched controls. METHODSThis prospective study had 12 prosthetic participants (PFFD Group: 8 M, 4F, age range 16-57 years) average 31.6±13.5 years and 12 control participants (Control Group: 8M, 4F) with an average age 32.6±14.1 years. Participants completed the following outcome questionnaires: SF-36, Revised-Faces Pain Scale, Harris Hip Score, Oswestry back pain score; and underwent lower extremity range of motion (ROM), hand held dynamometry, gait analysis, computerized dynamic posturography and Timed ‘Up& Go’ (TUG) testing. The PFFD Group also completed the Prosthetic Evaluation Questionnaire© (PEQ). The Wilcoxon Signed rank test was used to statistically compare each PFFD Group participant to the matched Control Group participant with values statistically significant at p\u3c 0.0123. RESULTSParticipants had rotationplasty performed at an average age of 6.5±3.9 years with follow up testing done 25.1±11.2 years later. All adult subjects were working full time in a variety of manual and office/desk jobs. No significant issues were seen for body image. Pain: The PFFD and Control Groups both reported similar low back pain with 6.8±9.7% and 7.0±13.0% disability respectively on the Oswestry back pain questionnaire. On the day of testing, only one PFFD participant reported mild low back pain on the Revised- Faces Pain Scale. The average Harris Hip Score for the PFFD Group was 92.7±9.2 out of 100, indicating excellent outcome. Two participants reported pain on their non-prosthetic hip. ROM: The PFFD Group showed significantly decreased hip flexion and ankle dorsiflexion, and increased ankle plantarflexion strength on the prosthetic side compared to the Control Group. The PFFD Group had significantly greater ankle abduction strength on their non-prosthetic side compared to the Control Group. Strength: The PFFD Group demonstrated significantly weaker hip flexion, hip abduction and ankle plantarflexion on the prosthetic side compared to the Control Group. TUG: The PFFD Group scored an average of 8.5±1.6 seconds on the TUG, demonstrating a low fall risk. The Control Group scored significantly lower with an average of 6.5 ±1.0 seconds. SF-36: There were no significant differences between the groups in overall health and well-being. PEQ©: The PFFD Group scored lower in areas of satisfaction, appearance, and sounds of the prosthesis. However, participants reported that others perceived them well and they did not see themselves as a social burden. Gait Analysis: Temporal-spatial gait parameters for the PFFD Group demonstrated significant decrease in cadence, stride time, opposite foot off, single support and walking speed compared to Control Group. Posturography: The PFFD Group showed significant decrease in symmetry in stance, as well as a decrease in end point and maximum excursion in limits of stability testing compared to the Control Group. DISCUSSION AND CONCLUSIONOverall, long-term follow up of teens and adults who underwent Van Nes rotationplasty showed that they maintained a high level of function, participation and QOL. They did present with significant differences in temporal spatial and posturography parameters compared to the Control Group

Long-term Follow up of Van Nes Rotationplasty for Congenital Proximal Focal Femoral Deficiency

Van Nes rotationplasty may be used for patients with congenital proximal focal femoral deficiency (PFFD). The lower limb is rotated to use the ankle and foot as a functional knee joint within a prosthesis. A small series of cases was investigated to determine the long-term outcome. At a mean of 21.5 years (11 to 45) after their rotationplasty, a total of 12 prosthetic patients completed the Short-Form (SF)-36, Faces Pain Scale-Revised, Harris hip score, Oswestry back pain score and Prosthetic Evaluation Questionnaires, as did 12 age- and gender-matched normal control participants. A physical examination and gait analysis, computerised dynamic posturography (CDP), and timed ‘Up & Go’ testing was also completed. Wilcoxon Signed rank test was used to compare each PFFD patient with a matched control participant with false discovery rate of 5%. There were no differences between the groups in overall health and well-being on the SF-36. Significant differences were seen in gait parameters in the PFFD group. Using CDP, the PFFD group had reduced symmetry in stance, and reduced end point and maximum excursions. Patients who had undergone Van Nes rotationplasty had a high level of function and quality of life at long-term follow-up, but presented with significant differences in gait and posture compared with the control group

Biohydrogenation of 22:6n-3 by Butyrivibrio proteoclasticus P18

Background: Rumen microbes metabolize 22:6n-3. However, pathways of 22:6n-3 biohydrogenation and ruminal microbes involved in this process are not known. In this study, we examine the ability of the well-known rumen biohydrogenating bacteria, Butyrivibrio fibrisolvens D1 and Butyrivibrio proteoclasticus P18, to hydrogenate 22:6n-3. Results: Butyrivibrio fibrisolvens D1 failed to hydrogenate 22:6n-3 (0.5 to 32 mu g/mL) in growth medium containing autoclaved ruminal fluid that either had or had not been centrifuged. Growth of B. fibrisolvens was delayed at the higher 22:6n-3 concentrations; however, total volatile fatty acid production was not affected. Butyrivibrio proteoclasticus P18 hydrogenated 22:6n-3 in growth medium containing autoclaved ruminal fluid that either had or had not been centrifuged. Biohydrogenation only started when volatile fatty acid production or growth of B. proteoclasticus P18 had been initiated, which might suggest that growth or metabolic activity is a prerequisite for the metabolism of 22:6n-3. The amount of 22:6n-3 hydrogenated was quantitatively recovered in several intermediate products eluting on the gas chromatogram between 22:6n-3 and 22:0. Formation of neither 22:0 nor 22:6 conjugated fatty acids was observed during 22:6n-3 metabolism. Extensive metabolism was observed at lower initial concentrations of 22:6n-3 (5, 10 and 20 mu g/mL) whereas increasing concentrations of 22:6n-3 (40 and 80 mu g/mL) inhibited its metabolism. Stearic acid formation (18:0) from 18:2n-6 by B. proteoclasticus P18 was retarded, but not completely inhibited, in the presence of 22:6n-3 and this effect was dependent on 22:6n-3 concentration. Conclusions: For the first time, our study identified ruminal bacteria with the ability to hydrogenate 22:6n-3. The gradual appearance of intermediates indicates that biohydrogenation of 22:6n-3 by B. proteoclasticus P18 occurs by pathways of isomerization and hydrogenation resulting in a variety of unsaturated 22 carbon fatty acids. During the simultaneous presence of 18:2n-6 and 22:6n-3, B. proteoclasticus P18 initiated 22:6n-3 metabolism before converting 18:1 isomers into 18:0

Precision of the current methods to measure the alkenone proxy UK'37 and absolute alkenone abundance in sediments : results of an interlaboratory comparison study

Measurements of the UK'37 index and the absolute abundance of alkenones in marine sediments are increasingly used in paleoceanographic research as proxies of past sea surface temperature and haptophyte (mainly coccolith-bearing species) primary productivity, respectively. An important aspect of these studies is to be able to compare reliably data obtained by different laboratories from a wide variety of locations. Hence the intercomparability of data produced by the research community is essential. Here we report results from an anonymous interlaboratory comparison study involving 24 of the leading laboratories that carry out alkenone measurements worldwide. The majority of laboratories produce data that are intercomparable within the considered confidence limits. For the measurement of alkenone concentrations, however, there are systematic biases between laboratories, which might be related to the techniques employed to quantify the components. The maximum difference between any two laboratories for any two single measurements of UK'37 in sediments is estimated, with a probability of 95%, to be <2.18C. In addition, the overall within-laboratory precision for the UK'37 temperature estimates is estimated to be <1.68C (95% probability). Similarly, from the analyses of alkenone concentrations the interlaboratory reproducibility is estimated at 32%, and the repeatability is estimated at 24%. The former is compared to a theoretical estimate of reproducibility and found to be excessively high. Hence there is certainly scope and a demonstrable need to improve reproducibility and repeatability of UK'37 and especially alkenone quantification data across the community of scientists involved in alkenone research

Growth, flesh adiposity and fatty acid composition of Atlantic salmon (Salmo salar) families with contrasting flesh adiposity: effects of replacement of dietary fish oil with vegetable oils

The present study compared the effects of diets formulated with reduced fishmeal (FM) content and either 100% fish oil (FO) or 100% of a vegetable oil (VO) blend in post-smolts of three family groups of Atlantic salmon. Two groups were selected as being either &ldquo;Lean&rdquo; or &ldquo;Fat&rdquo; based on estimated breeding values (EBV) for flesh adiposity of their parents derived from a breeding programme, while the third group (CAL) was a mix of non-pedigreed commercial families unrelated to the two groups above. The VO blend comprised rapeseed, palm and a new product, Camelina oil in a ratio of 5/3/2, and diets were fed to duplicate pens of each salmon group. After an ongrowing period of 55 weeks, to reach a mean weight of 3kg, the fish from all treatments were switched to a decontaminated FO for a further 24 weeks to follow restoration of long-chain n-3 polyunsaturated fatty acids (LC-PUFA) in the fish previously fed VO. Final weights were significantly affected by family group and there was also an interaction between diet and group with Fat and Lean FO fish being larger than the same fish fed VO. Specific growth rate (SGR) was highest in CAL fish (1.01), feed conversion ratio (FCR) was highest in the Lean fish but there were no significant effects on thermal growth coefficient (TGC). Condition Factor (CF) was lowest in CAL fish while the hepato-somatic index (HSI) was highest in Lean fish and viscero-somatic index (VSI) highest in Fat fish. Flesh and viscera lipid content was affected by both family group and diet with a significant interaction between the two. Flesh lipid in fish fed FO was in the order Fat &gt; CAL &gt; Lean although this order was Fat = Lean &gt; CAL when fed VO. Flesh fatty acid compositions were affected mainly by diet although some minor fatty acids were also influenced by group. Fish fed VO had n-3 LC-PUFA reduced by ~65% compared to fish fed FO but this could be restored by a 16 week FO finishing diet phase. The differences observed in lipid and fatty acid deposition suggested that genetics affected lipid deposition and metabolism and that breeding programmes could select for fish that retained more n-3 LC-PUFA in their flesh, particularly when fed diets low in these fatty acids

Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders

Prova tipográfica (uncorrected proof)Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or combination of both. In the last years, use of large-scale genomic techniques allowed important advances in the identification of genes/loci associated with these disorders. Nevertheless, following association of novel genes with a given disease, interpretation of findings is often difficult due to lack of information on gene function and effect of a given mutation in the corresponding protein. This brings the need to validate genetic associations from a functional perspective in model systems in a relatively fast but effective manner. In this context, the small nematode, Caenorhabditis elegans, presents a good compromise between the simplicity of cell models and the complexity of rodent nervous systems. In this article, we review the features that make C. elegans a good model for the study of neurodevelopmental diseases. We discuss its nervous system architecture and function as well as the molecular basis of behaviors that seem important in the context of different neurodevelopmental disorders. We review methodologies used to assess memory, learning, and social behavior as well as susceptibility to seizures in this organism. We will also discuss technological progresses applied in C. elegans neurobiology research, such as use of microfluidics and optogenetic tools. Finally, we will present some interesting examples of the functional analysis of genes associated with human neurodevelopmental disorders and how we can move from genes to therapies using this simple model organism.The authors would like to acknowledge Fundação para a Ciência e Tecnologia (FCT) (PTDC/SAU-GMG/112577/2009). AJR and CB are recipients of FCT fellowships: SFRH/BPD/33611/2009 and SFRH/BPD/74452/2010, respectively

Does dietary tocopherol level affect fatty acid metabolism in fish?

Fish are a rich source of the n-3 polyunsaturated fatty acids (PUFA), particularly the highly unsaturated fatty acids (HUFA), eicosapentaenoic (EPA; 20:5n-3) and docosahexaenoic (DHA; 22:6n-3) acids, which are vital constituents for cell membrane structure and function, but which are also highly susceptible to attack by oxygen and other organic radicals. Resultant damage to PUFA in membrane phospholipids can have serious consequences for cell membrane structure and function, with potential pathological effects on cells and tissues. Physiological antioxidant protection involves both endogenous components, such as free radical scavenging enzymes, and exogenous dietary micronutrients including tocopherols and tocotrienols, the vitamin E-type compounds, widely regarded as the primary lipid soluble antioxidants. The antioxidant activities of tocopherols are imparted by their ability to donate their phenolic hydrogen atoms to lipid (fatty acid) free radicals resulting in the stabilisation of the latter and the termination of the lipid peroxidation chain reaction. However, tocopherols can also prevent PUFA peroxidation by acting as quenchers of singlet oxygen. Recent studies on marine fish have shown correlations between dietary and tissue PUFA/tocopherol ratios and incidence of lipid peroxidation as indicated by the levels of TBARS and isoprostanes. These studies also showed that feeding diets containing oxidised oil significantly affected the activities of liver antioxidant defence enzymes and that dietary tocopherol partially attenuated these effects. However, there is evidence that dietary tocopherols can affect fatty acid metabolism in other ways. An increase in membrane PUFA was observed in rats deficient in vitamin E. This was suggested to be due to over production of PUFA arising from increased activity of the desaturation/elongation mechanisms responsible for the synthesis of PUFA. Consistent with this, increased desaturation of 18:3n-3 and 20:5n-3 in hepatocytes from salmon fed diets deficient in tocopherol and/or astaxanthin has been observed. Although the mechanism is unclear, tocopherols may influence biosynthesis of n-3PUFA through alteration of cellular oxidation potential or “peroxide tone”