Mouse Anti-ACTH (N-Term) monoclonal antibody, clone N546

Introduction: Although calcium pyrophosphate deposition (CPPD) is common, there are no validated outcome domains and/or measurements for CPPD studies. The aim of this work was to identify domains that have been reported in prior clinical studies in CPPD, to inform the development of a core set of domains for CPPD studies. Methods: We performed a scoping literature review for clinical studies in CPPD, searching in Medline (via PubMed), EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL) databases; published from January 1, 1946 to January 7, 2020. All reported outcomes and study design data were extracted and mapped to the core areas and domains as defined by the OMERACT Filter 2.1. The protocol was registered on PROSPERO (CRD: 42019137075; 09-07-2019). Findings: There were 112 papers identified, comprising of 109 observational studies and three randomized controlled trials. Most studies reported clinical presentations of OA with CPPD or acute CPP crystal arthritis. Outcomes that mapped to 22 domains were identified; the most frequently reported measures mapped to the following domains/sub-domains: imaging (joint damage on imaging tests - 59 studies; joint calcification on imaging tests - 28 studies), joint pain (26 studies), response to treatment (23 studies), side effects of treatment (15 studies), inflammation in the joint fluid or blood (ESR or C-reactive protein - 12 studies; synovial fluid markers - 4 studies; other blood markers - 2 studies), overall function (14 studies), joint swelling (12 studies) and range of joint movement (10 studies). Very few studies mapped to domains related to life impact, societal/resource use or longevity. Conclusion: There is substantial variability in outcomes reported in CPPD studies. Outcomes that map to imaging manifestations, joint pain and response to treatment domains are most often reported. (C) 2020 Elsevier Inc. All rights reserved.

Introduction:We present a patient with co-existence of 3 beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature.Case:A female infant (46,XX) born at 34/40 weeks' gestation, weighing 2.67 kg (-1.54 standard deviation score) to non-consanguineous parents presented on day 4 of life with significant weight loss. Subsequent investigations revealed hyponatraemia, hypochloraemia, metabolic alkalosis, elevated 17-hydroxyprogesterone, ACTH, and renin. Urine steroid profile suggested HSD3B2 deficiency, which was confirmed by the identification of a homozygousHSD3B2mutation. Due to the persistence of the hypochlo-raemic and hypokalemic alkalosis, an underlying renal tubulopathy was suspected. Sequence analysis of a targeted tubulopathy gene panel revealed a homozygous deletion inCLCNKB, consistent with Bartter syndrome type 3. The mother was found to be heterozygous for both mutations in -HSD3B2andCLCNKB, and the father was negative for both. Single-nucleotide polymorphism microarray analysis confirmed 2 segments of homozygosity on chromosome 1 of maternal ancestry, encompassing bothHSD3B2andCLCKNB.Discussion:Identification of a homozygous rare mutation in an offspring of non-consanguineous parents should raise suspicion of uniparental disomy, especially if the phenotype is unusual, potentially encompassing more than one disorder. The persistence of hypokalemic alkalosis, the biochemical fingerprint of hyperaldosteronism in a child with a form of CAH in which aldosterone production is severely impaired, challenges our current understanding of mineralocorticoid-mediated effects in the collecting duct.