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Item Epidemiological Trends of Racial Differences in Early- and Late-onset Group B Streptococcus Disease in Tennessee(Oxford University Press, 2021) Hamdan, Lubna; Vandekar, Simon; Spieker, Andrew J.; Rahman, Herdi; Ndi, Danielle; Shekarabi, Emily S.; Thota, Jyotsna; Rankin, Danielle A.; Haddadin, Zaid; Markus, Tiffanie; Aronoff, David M.; Schaffner, William; Gaddy, Jennifer A.; Halasa, Natasha B.; Medicine, School of MedicineBackground: The rates of early-onset group B Streptococcus (GBS) disease (EOGBS) have declined since the implementation of universal screening and intrapartum antibiotic prophylaxis guidelines but late-onset (LOGBS) rates remain unchanged. Racial differences in GBS disease rates have been previously documented, with Black infants having higher rates of EOGBS and LOGBS, but it is not known if these have persisted. Therefore, we sought to determine the differences in EOGBS and LOGBS disease by race over the past decade in Tennessee. Methods: This study used active population-based and laboratory-based surveillance data for invasive GBS disease conducted through Active Bacterial Core surveillance in selected counties across Tennessee. We included infants younger than 90 days and who had invasive GBS disease between 2009 and 2018. Results: A total of 356 GBS cases were included, with 60% having LOGBS. EOGBS and LOGBS had decreasing temporal trends over the study period. Overall, there were no changes in temporal trend noted in the rates of EOGBS and LOGBS among White infants. However, Black infants had significantly decreasing EOGBS and LOGBS temporal trends (relative risk [95% confidence interval], .87 [.79, .96] [P = .007] and .90 [.84-.97] [P = .003], respectively). Conclusions: Years after the successful implementation of the universal screening guidelines, our data revealed an overall decrease in LOGBS rates, primarily driven by changes among Black infants. More studies are needed to characterize the racial disparities in GBS rates, and factors driving them. Prevention measures such as vaccination are needed to have a further impact on disease rates.Item Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report(Elsevier, 2019-07-19) Cunningham, Conor M.; Royeca, J. Matthew; King, Samuel W.; Pandit, Hemant; Medicine, School of MedicineFribrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification of connective tissues, episodic flare-ups and bilateral deformities of the great toe (hallux valgus). As faulty tissue repair processes progressively calcify tissue, patients suffer from swelling and limited mobility in that area. We present a case of a 66-year-old woman who had initially presented at age 54 without the hallux valgus deformity or classic-type flare-ups. As there is currently no cure for FOP, management is mainly symptom control. Physicians should still consider FOP if imaging indicates progressive heterotopic ossification in the absence of hallux valgus in an older patient.Item A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease(Elsevier, 2021-08) Fevga, Christina; Park, Yangshin; Lohmann, Ebba; Kievit, Anneke J.; Breedveld, Guido J.; Ferraro, Federico; de Boer, Leon; van Minkelen, Rick; Hanagasi, Hasmet; Boon, Agnita; Wang, Wei; Petsko, Gregory A.; Hoang, Quyen Q.; Emre, Murat; Bonifati, Vincenzo; Biochemistry and Molecular Biology, School of MedicineIntroduction: Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes of autosomal dominant forms of Parkinson's Disease (PD). Methods: Two families of Turkish origins with PD were studied; the SNCA coding region was analyzed by Sanger sequencing, and by whole exome sequencing (WES) in the index patient of the first and the second family, respectively. Co-segregation studies and haplotype analysis across the SNCA locus were carried out. Functional studies included in vitro thioflavin-T aggregation assay and in silico structural modelling of the alpha-synuclein (α-syn) protein. Results: We identified a novel heterozygous SNCA variant, c.215C > T (p.Thr72Met), segregating with PD in a total of four members in the two families. A shared haplotype across the SNCA locus was found among variant carriers, suggestive of a common ancestor. We next showed that the Thr72Met α-syn displays enhanced aggregation in-vitro, compared to the wild-type species. In silico analysis of a tetrameric α-syn structural model revealed that Threonine 72 lies in the tetrameric interface, and substitution with the much larger methionine residue could potentially destabilize the tetramer. Conclusion: We present clinical, genetic, and functional data supporting a causative role of the SNCA c.215C > T (p.Thr72Met) variant in familial PD. Testing for this variant in patients with PD, especially of Turkish origin, might detect additional carriers. Further functional analyses might offer new insights into the shared biochemical properties of the PD-causing SNCA missense variants, and how they lead to neurodegeneration.