Proceedings of the 17th Annual International INEBRIA Conference.
Ontology highlight
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PROVIDER: S-EPMC9241172 | biostudies-literature |
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Project description:Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most life-threatening feature. CHS is a group of not-fully defined disorders. Congenital CHS (CCHS) (ORPHA661) is clinically and genetically well-characterized, with the disease-causing gene identified in 2003. CCHS presents at birth in most cases, and associated with Hirschsprung's disease (ORPHA99803) and neural crest tumours in 20% and 5% of cases, respectively. The incidence of CCHS is estimated to be 1 of 200,000 live births in France, yet remains unknown for the rest of the world. In contrast, late-onset CHS includes a group of not yet fully delineated diseases. Overlap with CCHS is likely, as a subset of patients harbours PHOX2B mutations. Another subset of patients present with associated hypothalamic dysfunction. The number of these patients is unknown (less than 60 cases reported worldwide). Treatment of CHS is palliative using advanced techniques of ventilation support during lifetime. Research is ongoing to better understand physiopathological mechanisms and identify potential treatment pathways.The Fourth International Conference on Central Hypoventilation was organised in Warsaw, Poland, April 13-15, 2012, under the patronage of the European Agency for Health and Consumers and Public Health European Agency of European Community. The conference provided a state-of-the-art update of knowledge on all the genetic, molecular, cellular, and clinical aspects of these rare diseases.
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Project description:Thyroglobulin (Tg) protein is synthesised uniquely by thyroid tissue and is measured as a post-operative differentiated thyroid cancer (DTC) tumour-marker. Tg autoantibodies (TgAb), present in ?20 percent of DTC patients, interfere with Tg immunometric assay (IMA) measurements causing falsely low/undetectable serum Tg values. Tg radioimmunoassay (RIA) methodology appears resistant to such interferences but has limited availability, whereas new Tg mass-spectrometry methods have inferior sensitivity and unproven clinical value. When present, TgAb concentrations respond to changes in thyroid tissue mass. Thus, when Tg IMA measurements are compromised by the presence of TgAb the TgAb trend can serve as a surrogate DTC tumour-marker. Unfortunately, both physiologic and technical factors impact the interpretation of Tg and TgAb used as DTC tumour-markers. Serum Tg Testing Circulating Tg concentrations change in response to thyroid tissue mass, injury (surgery, biopsy or radioiodine) and the degree of TSH stimulation. Technical factors (Tg assay sensitivity, specificity and interferences) additionally impact the clinical utility of Tg testing. Specifically, new 2nd generation Tg IMAs (functional sensitivities ? 0.1 ?g/L) now mostly obviate the need for expensive recombinant human TSH(rhTSH)-stimulated Tg testing. Tg molecular heterogeneity remains responsible for two-fold between-method differences in Tg values that preclude switching methods and TgAb interference remains especially problematic. Serum TgAb Testing Reliable TgAb testing is critical for authenticating that Tg IMA measurements are not compromised by interference. Unfortunately, TgAb methodologies vary widely in sensitivity, specificity and the absolute values they report, necessitating that TgAb concentrations be monitored using the same method. Furthermore, adopting the manufacturer’s TgAb cut-off value to define a ‘detectable’ TgAb results in falsely classifying sera as TgAb-negative, because manufacturers’ cut-offs are set to diagnose thyroid autoimmunity and not to detect TgAb interference.
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Project description:Background & aimsOver the last decade, clinical experiences and research studies raised concerns regarding use of proton pump inhibitors (PPIs) as part of the diagnostic strategy for eosinophilic esophagitis (EoE). We aimed to clarify the use of PPIs in the evaluation and treatment of children and adults with suspected EoE to develop updated international consensus criteria for EoE diagnosis.MethodsA consensus conference was convened to address the issue of PPI use for esophageal eosinophilia using a process consistent with standards described in the Appraisal of Guidelines for Research and Evaluation II. Pediatric and adult physicians and researchers from gastroenterology, allergy, and pathology subspecialties representing 14 countries used online communications, teleconferences, and a face-to-face meeting to review the literature and clinical experiences.ResultsSubstantial evidence documented that PPIs reduce esophageal eosinophilia in children, adolescents, and adults, with several mechanisms potentially explaining the treatment effect. Based on these findings, an updated diagnostic algorithm for EoE was developed, with removal of the PPI trial requirement.ConclusionsEoE should be diagnosed when there are symptoms of esophageal dysfunction and at least 15 eosinophils per high-power field (or approximately 60 eosinophils per mm2) on esophageal biopsy and after a comprehensive assessment of non-EoE disorders that could cause or potentially contribute to esophageal eosinophilia. The evidence suggests that PPIs are better classified as a treatment for esophageal eosinophilia that may be due to EoE than as a diagnostic criterion, and we have developed updated consensus criteria for EoE that reflect this change.
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