0000000000542061
AUTHOR
Xia Wang
FRI0318 Health care resource utilisation (HCRU) and cost analyses of systemic lupus erythematosus (SLE) as a function of disease severity: analysis of real-world claims data from a german sickness fund
Background SLE is a severe, chronic autoimmune disease of the connective tissue involving multiple organ systems. Understanding the economic burden of SLE in the context of disease severity is important when considering new therapeutic options. Objectives HCRU and costs associated with SLE were examined retrospectively using anonymized data from a German Sickness Fund database. Methods Real-world claims for adult (≥18 years old) patients (pts) with SLE from a German Sickness Fund database of company health insurance schemes were analysed. HCRU and costs were assessed annually for 2009–2014 for pts diagnosed with SLE in 2009 and validated using repeated SLE-related claims, co-diagnosis codes…
PS8:160 Health care resource use (hru) and medical cost analyses as a function of systemic lupus erythematosus (sle) disease severity: analysis of claims data of a german sickness fund
Purpose Real-world HRU and medical cost analyses support drug development in SLE. The economic burden of SLE as a function of disease severity was quantified for a German cohort. Methods HRU and cost analyses were performed for patients (≥18 years old) with SLE and compared with those of matched controls for 2009–2014 using the Betriebskrankenkassen (BKK) German Sickness Fund Database. BKK is a branch of the statutory German health insurance. SLE was confirmed in 2009 using the diagnosing physician’s specialty, repeated SLE-related claims, co-diagnosis codes, laboratory tests, or prescriptions. At least 3 years’ data was also required prior to 2009. SLE cases were control matched by age, se…
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…
Am J Hum Genet
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. Of these 19, 14 unrelated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous single-base insertion, and 2 subjects had a balanced translocation disrupting ZMIZ1 or involving a regulatory region of ZMIZ1. In total, we identified 13 point mutat…