Validation of the Italian version of the Non-Communicating Children's Pain Checklist-Postoperative Version

BACKGROUND: This study evaluated the validity and reliability of the Italian version of the Non-Communicating Children's Pain Checklist-Postoperative version (I-NCCPC-PV). METHODS: The original NCCPC-PV version was translated into Italian following the guidelines for "the translation, adaptation, and validation of instruments or scales for cross-cultural healthcare research". We tested the Italian NCCPC-PV version (I-NCCPC-PV) in 40 children (3-18 years of age) with severe to profound Intellectual Disability and no verbal communication. Each child's behavior was observed by a parent or caregiver and by an external observer in a quiet situation and a painful one. They independently assessed the child's level of pain using the translated Italian version of the NCCPCPV (I-NCCPC-PV). RESULTS: The results from 80 assessments showed that children's behavioral signs differed significantly between painful and calm situations (p < 0.001). The inter-rater reliability was poor in a quiet condition (ICC 0.62) and fair in a painful situation (ICC 0.77). The inter-rater agreement was good in both calm and painful conditions (72.50% and 77.50% respectively). CONCLUSION: The Italian version of the NCCPC-PV (I-NCCPC-PV) can be used for pain assessment in children with Intellectual Disability who lack verbal communication

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

<p>Abstract</p> <p>Objective</p> <p>To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE) countries, with a particular interest on the diagnostic facilities in these countries.</p> <p>Methods</p> <p>Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire.</p> <p>Results</p> <p>Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF), 14 with mevalonate-kinase deficiency (MKD), 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS) and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA). Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS) patients.</p> <p>Conclusions</p> <p>The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.</p

Proteolytic Processing of Nlrp1b Is Required for Inflammasome Activity

Nlrp1b is a NOD-like receptor that detects the catalytic activity of anthrax lethal toxin and subsequently co-oligomerizes into a pro-caspase-1 activation platform known as an inflammasome. Nlrp1b has two domains that promote oligomerization: a NACHT domain, which is a member of the AAA+ ATPase family, and a poorly characterized Function to Find Domain (FIIND). Here we demonstrate that proteolytic processing within the FIIND generates N-terminal and C-terminal cleavage products of Nlrp1b that remain associated in both the auto-inhibited state and in the activated state after cells have been treated with lethal toxin. Functional significance of cleavage was suggested by the finding that mutations that block processing of Nlrp1b also prevent the ability of Nlrp1b to activate pro-caspase-1. By using an uncleaved mutant of Nlrp1b, we established the importance of cleavage by inserting a heterologous TEV protease site into the FIIND and demonstrating that TEV protease processed this site and induced inflammasome activity. Proteolysis of Nlrp1b was shown to be required for the assembly of a functional inflammasome: a mutation within the FIIND that abolished cleavage had no effect on self-association of a FIIND-CARD fragment, but did reduce the recruitment of pro-caspase-1. Our work indicates that a post-translational modification enables Nlrp1b to function

Avaliação da qualidade de vida, da dor nas costas, da funcionalidade e de alterações da coluna vertebral de estudantes de fisioterapia

O objetivo deste estudo foi avaliar a qualidade de vida, dor nas costas, funcionalidade e as alterações da coluna vertebral de estudantes de fisioterapia. Participaram 42 universitários, sendo avaliada a coluna vertebral por meio do arcômetro, a dor nas costas por meio de um questionário multidimensional de dor, a qualidade de vida por meio do questionário SF-36 e funcionalidade a partir do Roland-Morris. Foi realizada estatística descritiva e teste qui-quadrado (α=0,05). Os resultados demonstraram: prevalência de alterações nas curvaturas da coluna vertebral de 38,1%; (n=16); alta prevalência de dor nas costas (69%; n=29); baixa prevalência de comprometimento da funcionalidade (3,4%; n=1); que não há associação entre as alterações nas curvaturas da coluna vertebral e funcionalidade e dor nas costas; e que os escores dos domínios do SF-36 foram maiores que 45, exceto o domínio "dor", cujo escore aproximado foi de 35. Conclui-se que quanto menor os níveis de intensidade da dor melhor o nível de qualidade de vida

2011 SOSORT guidelines: Orthopaedic and Rehabilitation treatment of idiopathic scoliosis during growth

<p>Abstract</p> <p>Background</p> <p>The International Scientific Society on Scoliosis Orthopaedic and Rehabilitation Treatment (SOSORT), that produced its first Guidelines in 2005, felt the need to revise them and increase their scientific quality. The aim is to offer to all professionals and their patients an evidence-based updated review of the actual evidence on conservative treatment of idiopathic scoliosis (CTIS).</p> <p>Methods</p> <p>All types of professionals (specialty physicians, and allied health professionals) engaged in CTIS have been involved together with a methodologist and a patient representative. A review of all the relevant literature and of the existing Guidelines have been performed. Documents, recommendations, and practical approach flow charts have been developed according to a Delphi procedure. A methodological and practical review has been made, and a final Consensus Session was held during the 2011 Barcelona SOSORT Meeting.</p> <p>Results</p> <p>The contents of the document are: methodology; generalities on idiopathic scoliosis; approach to CTIS in different patients, with practical flow-charts; literature review and recommendations on assessment, bracing, physiotherapy, Physiotherapeutic Specific Exercises (PSE) and other CTIS. Sixty-five recommendations have been given, divided in the following topics: Bracing (20 recommendations), PSE to prevent scoliosis progression during growth (8), PSE during brace treatment and surgical therapy (5), Other conservative treatments (3), Respiratory function and exercises (3), Sports activities (6), Assessment (20). No recommendations reached a Strength of Evidence level I; 2 were level II; 7 level III; and 20 level IV; through the Consensus procedure 26 reached level V and 10 level VI. The Strength of Recommendations was Grade A for 13, B for 49 and C for 3; none had grade D.</p> <p>Conclusion</p> <p>These Guidelines have been a big effort of SOSORT to paint the actual situation of CTIS, starting from the evidence, and filling all the gray areas using a scientific method. According to results, it is possible to understand the lack of research in general on CTIS. SOSORT invites researchers to join, and clinicians to develop good research strategies to allow in the future to support or refute these recommendations according to new and stronger evidence.</p

New tridimensional approach to the evaluation of the spine through surface measurement: The BACES system

The aim was to test a new instrument, the BACES system, an articulated arm connected to a computer, to improve non-invasive examination of the spine and to reduce X-ray examinations. To this aim, four observers performed three series of eight measurements on a dummy and two healthy volunteers. Data on the projection of the spine, any curve detectable on the frontal and sagittal plane, and any rotation at each thoracolumbar level were collected and analysed. To detect the role of the observer, of the procedure and of the object in measurement variability, a two-factor analysis of variance was performed. The results showed measurement errors for kyphosis and scoliosis generally below 3\ub0, whereas the lordosis showed a major variability, especially in volunteers, because of the attitude role. Rotations showed a limited variability too, generally below 2\ub0. In the clinical setting, > 2 SD may reasonably be considered a clinical change because it has not a great chance of being a measurement error. Thus, the BACES system allowed us to identify with fairly good precision kyphosis, scoliosis and trunk rotations. Even though at the moment no surface measurement method can replace X-rays, the instrument can integrate and limit the use of radiographic evaluations

Instrumental measures of spinal function: is it worth? A state-of-the art from a clinical perspective

In the last decades, assessment of trunk posture and motion has gained importance in clinical practice, and several instrumental non-invasive techniques have been developed to overcome limitations of manual and radiological methods. Despite the large effort spent in improving the underlying technologies, the actual role of these measures in the clinical setting remains still undefined due to a variety of issues. The main question concerns the provision of parameters providing a significant contribution to the clinical decision making. In this paper, we review the available spine surface measurement techniques from a technical viewpoint, and point out their current and potential applications according to a clinical perspective. Conclusions are drawn on the basis of both the technical features and accessibility in daily clinical practice, as well as of the validity, reliability and clinical value of the provided parameters. A well-defined clinical role is established for surface topography in the follow-up of spine sagittal plane deformities, adulthood scoliosis and spine disorders involving the spino-pelvic alignment. Conversely, further studies are required to identify reliable key parameters for use in the clinical (adolescent scoliosis, back and neck pain), occupational (measurement of spine exposure to mechanical loads) and forensic (assessment of segmental functional impairments) fields