Rubinstein-Taybi syndrome with scoliosis

<p>Abstract</p> <p>Study Design</p> <p>Case report.</p> <p>Objective</p> <p>The authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis.</p> <p>Summary of Background Data</p> <p>There have been no reports on surgery for RSTS presenting scoliosis.</p> <p>Methods</p> <p>The patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at presentation to our hospital revealed an 84-degree right thoracic curve from T6 to T12, along with a 63-degree left lumbar compensatory curve from T12 to L4. We planned a two-staged surgery and decided to fuse from T4 to L4. The first operation was front-back surgery because of the rigidity of the right thoracic curve. The second operation of lumbar anterior discectomy and fusion was arranged 9 months after the first surgery to prevent the crankshaft phenomenon due to his natural course of adolescent growth. To avoid respiratory complications, the patient was put on a respirator in the ICU for several days after both surgeries.</p> <p>Results</p> <p>Full-length spine radiographs after the first surgery revealed no instrumentation failure and showed that the right thoracic curve was corrected to 31 degrees and the left lumbar curve was corrected to 34 degrees. No postoperative complications occurred after both surgeries.</p> <p>Conclusions</p> <p>We succeeded in treating the patient without complications. Full-length spine standing radiographs at one year after the second operation demonstrated a stable bony arthrodesis with no loss of initial correction.</p

Re-Evaluation of the Action Potential Upstroke Velocity as a Measure of the Na+ Current in Cardiac Myocytes at Physiological Conditions

Background: The SCN5A encoded sodium current (INa) generates the action potential (AP) upstroke and is a major determinant of AP characteristics and AP propagation in cardiac myocytes. Unfortunately, in cardiac myocytes, investigation of kinetic properties of INa with near-physiological ion concentrations and temperature is technically challenging due to the large amplitude and rapidly activating nature of INa, which may seriously hamper the quality of voltage control over the membrane. We hypothesized that the alternating voltage clamp-current clamp (VC/CC) technique might provide an alternative to traditional voltage clamp (VC) technique for the determination of INa properties under physiological conditions. Principal Findings: We studied INa under close-to-physiological conditions by VC technique in SCN5A cDNA-transfected HEK cells or by alternating VC/CC technique in both SCN5A cDNA-transfected HEK cells and rabbit left ventricular myocytes. In these experiments, peak INa during a depolarizing VC step or maximal upstroke velocity, dV/dtmax, during VC/CC served as an indicator of available INa. In HEK cells, biophysical properties of INa, including current density, voltage dependent (in)activation, development of inactivation, and recovery from inactivation, were highly similar in VC and VC/CC experiments. As an application of the VC/CC technique we studied INa in left ventricular myocytes isolated from control or failing rabbit hearts

Hip and spine bone mineral density are greater in master sprinters, but not endurance runners compared with non-athletic controls

Summary: We examined bone density in older athletes and controls. Sprinters had greater hip and spine bone density than endurance athletes and controls, whereas values were similar in the latter two groups. These results could not be explained by differences in impact, muscle size or power between sprint and endurance athletes. Purpose: We examined the relationship between prolonged participation in regular sprint or endurance running and skeletal health at key clinical sites in older age, and the factors responsible for any associations which we observed. Methods: We recruited 38 master sprint runners (28 males, 10 females, mean age 71 ± 7 years), 149 master endurance runners (111 males, 38 females, mean age 70 ± 6 years) and 59 non-athletic controls (29 males, 30 females, mean age 74 ± 5 years). Dual X-ray absorptiometry was used to assess hip and spine bone mineral density (BMD), body composition (lean and fat mass), whilst jump power was assessed with jumping mechanography. In athletes, vertical impacts were recorded over 7 days from a waist-worn accelerometer, and details of starting age, age-graded performance and training hours were recorded. Results: In ANOVA models adjusted for sex, age, height, body composition, and jump power, sprinter hip BMD was 10 and 14% greater than that of endurance runners and controls respectively. Sprinter spine BMD was also greater than that of both endurance runners and controls. There were no differences in hip or spine BMD between endurance runners and controls. Stepwise regression showed only discipline (sprint/endurance), sex, and age as predictors of athlete spine BMD, whilst these variables and starting age were predictive of hip BMD. Conclusions: Regular running is associated with greater BMD at the fracture-prone hip and spine sites in master sprinters but not endurance runners. These benefits cannot be explained by indicators of mechanical loading measured in this study including vertical impacts, body composition or muscular output

Indicadores das condições nutricionais na região Polonoroeste: V. Desnutrição protéico-energética e parasitoses intestinais em um grupo de crianças de 3 a 72 meses de idade da cidade de Mirassol D'Oeste, Mato Grosso, Brasil

Este trabalho tem por objetivo caracterizar a desnutrição protéico-energética associada a parasitose intestinal em grupo de 149 crianças de ambos os sexos, na faixa etária de 3 a 72 meses, da cidade de Mirassol D'Oeste, na região do Projeto Polonoroeste em Mato Grosso. De cada criança foram coletados os seguintes dados: sexo, peso, idade e amostra de fezes para exame parasitológico. Os dados peso/idade obtidos foram analisados pelos critérios de GOMEZ. Utilizou-se como padrão de referência o National Center for Health Statistic (NCHS). Para diagnóstico dos parasitas intestinais executou-se o método de Hoffman, Pons e Janer. O grupo estudado constitui-se em sua maioria de crianças desnutridas, sendo a forma leve de desnutrição mais comum que as formas moderada e grave. As enteroparasitoses foram encontradas em 69% das amostras examinadas. A "Giardia lamblia" foi o protozoário mais comum e o "Ancilostomídeo" o helminto mais encontrado. O teste X² não mostrou relação de dependência entre o estado nutricional e a freqüência de enteroparasitoses

Meditation Awareness Training for individuals with fibromyalgia syndrome: an interpretative phenomenological analysis of participants' experiences

Fibromyalgia syndrome (FMS) is a complex and poorly understood psychosomatic pain disorder. The illness has been the subject of controversy, both in terms of the alleged lack of interest and capability of the medical community to understand and support patients with FMS, and the burden that such individuals place upon economic and healthcare re- sources. Due to the lack of convincing data for the effectiveness of extant pharmacological and non-pharmacological FMS treatments, a recent direction in FMS research has been the empirical investigation of mindfulness and other meditation-based approaches. The present qualitative study explored whether following participation in a mindfulness-based intervention, patients with FMS report experiencing changes in (i) how they experience and relate to their illness and (ii) their attitudes towards societal participation, work and unemployment. Ten individuals with FMS were randomly selected from the intervention arm of a randomised controlled trial (RCT) evaluating the effectiveness of a mindfulness-based intervention known as Meditation Awareness Training (MAT) for the treatment of FMS. Transcripts of semi-structured interviews were analysed using Interpretative Phenomenological Analysis, a robust and rigorous qualitative methodology for analysing sub jective experiences. Five super-ordinate themes emerged from the dataset: (i) reservations about participating,(ii) improvements in psychosomatic well-being,(iii) spiritual growth,(iv) awareness of impermanence and (v) increased sense of citizenship. MAT was experienced as both an acceptable and accessible intervention by individuals with FMS, and participants reported experiencing improvements in psychosocial functioning as well as an increased sense of societal responsibility. MAT appears to have utility for treating FMS and for changing the attitudes of some individuals with FMS towards community engagement and societal contribution

A three-experiment examination of iliotibial band strain characteristics during different conditions using musculoskeletal simulation.

PURPOSE: Iliotibial band syndrome (ITBS) is a common chronic pathology mediated via excessive Iliotibial band (ITB) strain. The purpose using a three-experiment approach is to provide insight into the differences in strain between different athletic movements, the incidence of ITBS in females, the efficacy of different prophylactic modalities for ITBS and also the kinematic parameters associated with ITB strain. METHODS: Experiment 1 examined male and female athletes performing run, 45° cut and one-legged hop movements, experiment 2 observed males and females, whilst running in five different orthotic conditions and experiment 3 examined males and females riding a cycle ergometer at 70, 80 and 90RPM whilst in prophylactic knee brace and no-brace conditions. In each experiment, kinematics were obtained using a motion capture system and ITB strain was measured using a musculoskeletal simulation approach. RESULTS: In experiment 1 ITB strain was greater in the run (male=3.87% & female=4.37%; P<0.001) and cut (male=3.12% & female=4.06%; P<0.001) movements compared to hop (male=0.87% & female=1.54%). Experiment 2 showed that females exhibited increased ITB strain (male=6.34% & female=8.91%; P<0.05) and ITB strain velocity (male=57.17%/s & female=77.41%/s; P<0.05) and also in females that ITB strain velocity was greater (P≤0.01) in lateral (80.22%/s) and no-orthotic (83.01%/s) conditions compared to medial (72.58%/s) and off the shelf orthoses (74.52%/s). The regression analyses across movements showed that ITB strain was predicted by sagittal and coronal plane mechanics at the hip (R2=0.15-0.30; P<0.05) and sagittal, coronal and transverse plane kinematics at the knee joint (R2=0.15-0.22; P<0.05). CONCLUSION: Further insight is provided into differences in ITB strain across functional athletic movements, the increased incidence of ITBS in females and the parameters linked most strongly with ITB strain during different movements is provided; whilst also highlighting the prophylactic efficacy of medial and off the shelf orthoses in female runners

Long Astral Microtubules and RACK-1 Stabilize Polarity Domains during Maintenance Phase in Caenorhabditis elegans Embryos

Cell polarity is a very well conserved process important for cell differentiation, cell migration, and embryonic development. After the establishment of distinct cortical domains, polarity cues have to be stabilized and maintained within a fluid and dynamic membrane to achieve proper cell asymmetry. Microtubules have long been thought to deliver the signals required to polarize a cell. While previous studies suggest that microtubules play a key role in the establishment of polarity, the requirement of microtubules during maintenance phase remains unclear. In this study, we show that depletion of Caenorhabditis elegans RACK-1, which leads to short astral microtubules during prometaphase, specifically affects maintenance of cortical PAR domains and Dynamin localization. We then investigated the consequence of knocking down other factors that also abolish astral microtubule elongation during polarity maintenance phase. We found a correlation between short astral microtubules and the instability of PAR-6 and PAR-2 domains during maintenance phase. Our data support a necessary role for astral microtubules in the maintenance phase of cell polarity

The Role of γ-Tubulin in Centrosomal Microtubule Organization

As part of a multi-subunit ring complex, γ-tubulin has been shown to promote microtubule nucleation both in vitro and in vivo, and the structural properties of the complex suggest that it also seals the minus ends of the polymers with a conical cap. Cells depleted of γ-tubulin, however, still display many microtubules that participate in mitotic spindle assembly, suggesting that γ-tubulin is not absolutely required for microtubule nucleation in vivo, and raising questions about the function of the minus end cap. Here, we assessed the role of γ-tubulin in centrosomal microtubule organisation using three-dimensional reconstructions of γ-tubulin-depleted C. elegans embryos. We found that microtubule minus-end capping and the PCM component SPD-5 are both essential for the proper placement of microtubules in the centrosome. Our results further suggest that γ-tubulin and SPD-5 limit microtubule polymerization within the centrosome core, and we propose a model for how abnormal microtubule organization at the centrosome could indirectly affect centriole structure and daughter centriole replication