Vitamin D supplementation in the pediatric rheumatology clinic.

Vitamin D is capturing the attention of healthy and chronically ill populations for its potential skeletal and nonskeletal benefits. New information suggesting a role in immune modulation has led to a surge of interest among rheumatologists. Although the epidemiologic data are limited, it appears that many children with rheumatic conditions are at risk of vitamin D deficiency. However, understanding this phenomenon requires an appreciation for how vitamin D status is assessed, and options for supplementation. Although a "more-is-better" attitude is tempting when considering the medicinal effects of a nutritional supplement, we suggest a cautious approach and suggest that further studies are needed to clarify the potential benefits and risks among children with rheumatic conditions

The Anatomy and Function of the equine thoracolumbar Longissimus dorsi muscle

The aim of this thesis was to evaluate the structure and function of the largest muscle of the equine back, the Longissimus dorsi muscle (LD) and investigate the usefulness of ultrasonography in determining LD architecture in live horses. Dissection of clinically normal horse and pony cadaver backs demonstrated the complex architecture of this muscle with its regional variations in diameter, muscle fibre length and pennation angle. The observed anatomical differences corresponded to regional differences in muscle activity pattern and the intensity of muscle activity in six horses examined. Electrmyographic measurements showed significant diffeneces at different anatomical locations, gait, speed and inclines. Ultrasonography was evaluated as a tool to visualize and quantify LD architecture in live horses. In the first ultrasonographic study the ultrasonographic anatomy of the LD was determined by matching ultrasonographic images to corresponding frozen sections in a cadaver. Inter- and intra-operator repeatability of ultrasound based muscle measurements showed that muscle thickness measurements were found to be reapeatable, pennation angle was not. The presented thesis contributes to understanding the biomechanics of the equine LD by illustrating the relationship between anatomy and function through integrating cadaveric data with measurements in live horses. In the second part the use of ultrasonography in determining LD architecture and functioin in live horses as future diagnostic tool was investigated and its usefulness and limitations established

Flexibilitätsoptionen im industriellen Umfeld an verschiedenen Energiehandelsmarktplätzen im Smart Grid

Die Energieversorgung in Deutschland befindet sich in einem Umstrukturierungsprozess. Die Liberalisierung, der Ausbau der Erneuerbaren Energien, der Ausstieg aus der Atomenergie und die damit verbundenen Herausforderungen sind die drei wesentlichen Aspekte, die an dieser Stelle zu nennen sind. Die vorliegende Arbeit soll zu diesem Umstrukturierungsprozess einen Beitrag leisten. Im Fokus dieser Arbeit steht die kurzfristige Nachfrageflexibilisierung im industriellen Umfeld und deren Vermarktung an Energiehandelsplätzen. Es werden relevante Märkte bezüglich ihrer Eigenschaften wie handelbaren Produkte, Vertragsbeziehungen, Fristen und Angebotserstellung illustriert. Für die Vermarktung kurzfristiger Flexibilitäten seitens der Nachfrage bietet u.a. der Spotmarkt aufgrund des kleinen Zeitfensters zwischen Handelsangebot und der physikalischen Handelserfüllung Potenzial für kurzfristige Optimierungsmaßnahmen. Im industriellen Bereich existieren zu den bereits heute in der Praxis genutzten Flexibilitäten Potenziale, um den Grad der Nachfrageflexibilisierung weiter zu steigern. National wird Nachfrageflexibilisierung aktuell zur Spitzenlastbegrenzung und für den Regelenergiemarkt eingesetzt. In Zukunft muss der Aktionsraum der Nachfrageflexibilisierung erweitert werden. Ein Industrieunternehmen, welches über die Börse seinen Strom bezieht und regelmäßig Prognosen über Sonne und Wind von Dienstleistern erhält, kann durch die Vermarktung von Flexibilitäten im eigenen Produktionsprozess profitieren. Industrielle Nachfrageflexibilisierung kann nur sehr individuell realisiert werden. Für den optimalen Einsatz kurzfristiger Nachfrageflexibilisierung muss das Industrieunternehmen seine Handelsstrategie an den Tagesverlauf bzw. Wochentag und Jahreszeit anpassen. Die Einspeisung von Erneuerbaren Energien wirkt sich bereits heute auf die Marktpreise aus. Dieser Einfluss wird in Zukunft weiter zunehmen. Die Strombezugskosten eines Industrieunternehmens können durch Umsetzung der Strukturierten Beschaffung im Vergleich zu einem Vollversorgungsvertrag deutlich reduziert werden. Ergänzend können weitere Einsparungen durch die Nutzung von Flexibilitäten erzielt werden. Die Entwicklung des Renewable Energy For Industry (REFI)-Modells stellt die Verbindung zwischen dem Angebot von Regenerativen Energien, der Nutzung von Flexibilitäten innerhalb eines realen Produktionsprozesses und deren Vermarktung am Spotmarkt dar. Es können sowohl aus energetischer – Erhöhung des Anteils Regenerativer Energien im bezogenen Strommix – als auch aus monetärer Perspektive – Reduktion der Strombezugskosten – Effizienzsteigerungen erzielt werden

The difference of disease perception by juvenile idiopathic arthritis patients and their parents : analysis of the JAMAR questionnaire.

BACKGROUND: The JAMAR (Juvenile Arthritis Multidimensional Assessment Report) has been developed to evaluate the perception of the patient and his parents on different items: well-being, pain, functional status, quality of life, disease activity, disease course, side effects of medication, therapeutic compliance and satisfaction with illness outcome. Our aim was to compare disease's perception by JIA patients and their parents. METHODS: We included into the study 100 consecutive patients over 7 years of age. We asked both parent and child to complete the JAMAR questionnaire. For each patient we recorded demographic and disease related data. We examined the level of disagreement between children and parents for the quantitative items of the JAMAR: VAS Pain, VAS Disease Activity, VAS Well Being, Juvenile Arthritis Functional Score, HRQoL. Then we looked for a relation between discordance-rate and demographic and clinical variables. RESULTS: Children and parents' median scores for all five items were similar. Individual dyads agreement was low, with a large amount of pairs (80) discordant for at least one item. We found higher MD VAS and JADAS in more discordant dyads, suggesting that when the disease is more active discordance between child and parent increase. CONCLUSION: The JAMAR questionnaire is an important tool that helps clinicians to detect divergent child and parent's disease perceptions. It is essential that both patients and parents fill the JAMAR questionnaire for a complete clinical and psychosocial evaluation

Teaching Musculoskeletal Physical Diagnosis Using A Web-based Tutorial and Pathophysiology-Focused Cases

ObjectiveTo assess the effectiveness of an experimental curriculum on teaching first-year medical students the musculoskeletal exam as compared to a traditional curriculum.BackgroundMusculoskeletal complaints are common in the primary care setting. Practitioners are often deficient in examination skills and knowledge regarding musculoskeletal diseases. There is a lack of uniformity regarding how to teach the musculoskeletal examination among sub-specialists. We propose a novel web-based approach to teaching the musculoskeletal exam that is enhanced by peer practice with pathophysiology-focused cases. We sought to assess the effectiveness of an innovative musculoskeletal curriculum on the knowledge and skills of first-year medical students related to musculoskeletal physical diagnosis as compared to a traditional curriculum. The secondary purpose of this study was to assess satisfaction of students and preceptors exposed to this teaching method.MethodsThis quasi-experimental study was conducted at a single LCME-accredited medical school and included a convenience sample from 2 consecutive classes of medical students during the musculoskeletal portion of their physical diagnosis class. We conducted a needs assessment of the traditional curriculum used to teach musculoskeletal examination. The needs assessment informed the development of an experimental curriculum. One class (control group) received the traditional curriculum while the second class (experimental group) received the experimental curriculum, consisting of a web-based musculoskeletal tutorial, pathophysiology-focused cases, and facilitator preparation. We used multiple-choice questions and musculoskeletal OSCE scores to assess differences between knowledge and skills in the 2 groups.ResultsThe sample consisted of 140 students in each medical school class. There were no statistically significant differences between the 2 groups. One hundred seven students from the control group and 120 students from the experimental group took the multiple-choice examination. The average score was 66% (95% CI= 59.7-72.3) for the control group and 66% (95% CI = 60.5-71.5) for the experimental group. There was no difference between the median musculoskeletal OSCE scores between the 2 groups. The experimental group was satisfied with the new teaching method and gained the additional benefit of a persistent resource.ConclusionsThis web-based experimental curriculum was as effective as the traditional curriculum for teaching the musculoskeletal exam. Additionally, users were satisfied with the web-based training and benefited from a persistent resource

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown. We performed a comprehensive genetic study on 68 individuals from 14 families. Linkage analysis suggested a susceptibility locus on chromosome 8, but direct molecular sequencing did not support this initial statistical finding. Exome sequencing revealed the absence of any gene that was mutated in all patients. Exhaustive screening of genes involved in other autoinflammatory syndromes or encoding components of the human inflammasome showed no DNA variants that could be linked to PFAPA molecular pathology. Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. Our results on this relatively large cohort indicate that PFAPA syndrome is unlikely to be a monogenic condition. Moreover, none of the several genes known to be involved in inflammation or in autoinflammatory disorders seem to be relevant, alone, to its etiology, suggesting that PFAPA results from oligogenic or complex inheritance of variants in multiple disease genes and/or non-genetic factors

Neonatal treatment of CINCA syndrome.

ABSTRACT: Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also called Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic disease with early onset affecting mainly the central nervous system, bones and joints and may lead to permanent damage. We report two preterm infants with severe CINCA syndrome treated by anti-interleukin-1 in the neonatal period, although, so far, no experience with this treatment in infants younger than three months of age has been reported. A review of the literature was performed with focus on treatment and neonatal features of CINCA syndrome. CASE REPORT: Two cases suspected to have CINCA syndrome were put on treatment with anakinra in the early neonatal period due to severe clinical presentation. We observed a rapid and persistent decline of clinical signs and systemic inflammation and good drug tolerance. Diagnosis was confirmed in both cases by mutations in the NLRP3/CIAS1-gene coding for cryopyrin. As particular neonatal clinical signs polyhydramnios and endocardial overgrowth are to be mentioned. CONCLUSION: We strongly suggest that specific treatment targeting interleukin-1 activity should be started early. Being well tolerated, it can be introduced already in neonates presenting clinical signs of severe CINCA syndrome in order to rapidly control inflammation and to prevent life-long disability