ISSN 1662-4009 (online)

ey0018.14-1 | (1) | ESPEYB18

14.1. Association of vitamin D levels, race/ethnicity, and clinical characteristics with COVID-19 test results

Meltzer David O , Best Thomas J , Zhang Hui , Vokes Tamara , Arora Vineet M , Solway Julian

JAMA Netw Open. 2021;4(3):e214117. https://bit.ly/3zopFZ4This prospective observational cohort study (n=4638) measured vitamin D level in the year before undergoing COVID-19 testing. The risk of a positive COVID-19 test in Black, but not White, individuals was 2.64-fold higher if vitamin D level was 30–40 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

ey0018.1-11 | Genetics | ESPEYB18

1.11. Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

O David , M Eskin-Schwartz , G Ling , V Dolgin , E Kristal , E Benkowitz , L Osyntsov , L Gradstein , OS Birk , N Loewenthal , B Yerushalmi

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...