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 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

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

Chiral Surface States in the Bulk Quantum Hall Effect

In layered samples which exhibit a bulk quantum Hall effect (QHE), a two-dimensional (2d) surface ``sheath" of gapless excitations is expected. These excitations comprise a novel 2d chiral quantum liquid which should dominate the low temperature transport along the field (z-axis). For the integer QHE, we show that localization effects are completely absent in the ``sheath", giving a metallic z-axis conductivity. For fractional filling $\nu =1/3$, the ``sheath" is a 2d non-Fermi liquid, with incoherent z-axis transport and $\sigma_{zz} \sim T^3$. Experimental implications for the Bechgaard salts are discussed.Comment: 4 pages, RevTeX 3.0, with two encapsulated postscript figures, which can be automatically included in-text if desired. The complete postscript file is available on the WWW at http://www.itp.ucsb.edu/~balents/sheath.p

A case of corticosteroid-dependent recurrent pericarditis with different response to two IL-1 blocking agents

Background: Recurrent pericarditis (RP) represents the most troublesome presentation of pericarditis and has a controversial pathogenesis that crosses infectious, auto-immune and auto-inflammatory pathways. It has been suggested that in some cases it might be an unrecognized auto-inflammatory disease. Recent studies have demonstrated that anakinra, an interleukin-1 receptor antagonist (IL-1RA), represents an effective treatment for the control of corticosteroid-dependent cases. Objectives: To describe a case of cortico-dependent recurrent pericarditis with a different response to two IL-1 blocking agents, anakinra and canakinumab. Methods: Case report Results: 11 years old boy who was admitted to our hospital because of acute precordial pain, orthopnea, fever and increased levels of acute phase reactants. Acute pericarditis was confirmed by echocardiography and a treatment with prednisone was started with prompt clinical improvement. Pericarditis recurred twice during steroid tapering (1mg/kg/day and 0.5mg/kg/day respectively). After exclusion of infectious origin, therapy with anakinra (2mg/kg/day) was established (to avoid long term steroid side effects) followed by dramatic clinical response and normalisation of laboratory findings despite tapering and discontinuation of prednisone. Treatment with anakinra was discontinued after 5 months with recurrence of pericarditis one week later. Anakinra was resumed with an excellent response. Five months later, while being in complete remission, anakinra was replaced with canakinumab (2mg/kg/dose) due to patient’s intolerance of daily injections. One week later, the patient experienced a new episode of pericarditis requiring corticotherapy. Two more relapses occured during steroid tapering, after 6 weeks and 2 months, in spite of the uptitration of canakinumab to 4mg/kg/dose. Anakinra was restarted with prompt clinical and biological remission and prednisone was discontinuated without recurrence of pericarditis. After further four weeks follow-up under anakinra alone, the pericarditis is still in remission. Conclusion: We describe a case of steroid-dependent RP with a dramatic therapeutic response to IL-1RA (anakinra) but without response to IL-1β monoclonal antibody (canakinumab). This unexpected observation could suggest that Il-1α might have a role in the pathogenesis of RP. The definitive potential usefulness of each IL-1 blocking agent requires confirmation in prospective controlled trials

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

Edge electron states for quasi-one-dimensional organic conductors in the magnetic-field-induced spin-density-wave phases

We develop a microscopic picture of the electron states localized at the edges perpendicular to the chains in the Bechgaard salts in the quantum Hall regime. In a magnetic-field-induced spin-density-wave state (FISDW) characterized by an integer N, there exist N branches of chiral gapless edge excitations. Localization length is much longer and velocity much lower for these states than for the edge states parallel to the chains. We calculate the contribution of these states to the specific heat and propose a time-of-flight experiment to probe the propagating edge modes directly.Comment: 4 pages, 2 figures. V.2: Minor changes to the final version published in PR

The prescribed mean curvature equation in weakly regular domains

We show that the characterization of existence and uniqueness up to vertical translations of solutions to the prescribed mean curvature equation, originally proved by Giusti in the smooth case, holds true for domains satisfying very mild regularity assumptions. Our results apply in particular to the non-parametric solutions of the capillary problem for perfectly wetting fluids in zero gravity. Among the essential tools used in the proofs, we mention a \textit{generalized Gauss-Green theorem} based on the construction of the weak normal trace of a vector field with bounded divergence, in the spirit of classical results due to Anzellotti, and a \textit{weak Young's law} for $(\Lambda,r_{0})$-minimizers of the perimeter.Comment: 23 pages, 1 figure --- The results on the weak normal trace of vector fields have been now extended and moved in a self-contained paper available at: arXiv:1708.0139

How to detect edge electron states in (TMTSF)2X and Sr2RuO4 experimentally

We discuss a number of experiments that could detect the electron edge states in the organic quasi-one-dimensional conductors (TMTSF)2X and the inorganic quasi-two-dimensional perovskites Sr2RuO4. We consider the chiral edges states in the magnetic-field-induced spin-density-wave (FISDW) phase of (TMTSF)2X and in the time-reversal-symmetry-breaking triplet superconducting phase of Sr2RuO4, as well as the nonchiral midgap edge states in the triplet superconducting phase of $(TMTSF)2X. The most realistic experiment appears to be an observation of spontaneous magnetic flux at the edges of Sr2RuO4 by a scanning SQUID microscope.Comment: 6 pages, 5 figures. Submitted to the proceedings of ISCOM-2001 to be published in Synthetic Metals. Uses supplied elsart.cls and synmet.cls. V.2: 1 reference adde