Congratulations to Dr. Uc on her recent publication in the journal Digestive Liver Diseases.
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M. Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series. Dig Liver Dis. 2019 Jul 26. pii: S1590-8658(19)30679-6. doi: 10.1016/j.dld.2019.04.020. [Epub ahead of print]
Congratulations to Dr. Becky Benson (General Pediatrics and Adolescent Medicine/Palliative Care) on her recent publication in the Journal of Palliative Medicine.
*The paper was led by Dr. Katie Harmony, one of our heme/onc fellowship graduates of 2018. She just completed a hospice and palliative care fellowship at Rochester in New York, and accepted a job in Columbia, MO, where she will be doing split time between heme/onc and palliative care.
Drs. Sarah Haskell (Critical Care) and Dianne Atkins (Cardiology, emeritus) were part of an author group on a recent scientific statement from the American Heart Association (AHA). Congratulations to both!
Topjian AA, de Caen A, Wainwright MS, Abella BS, Abend NS, Atkins DL, Bembea MM, Fink EL, Guerguerian AM, Haskell SE, Kilgannon JH, Lasa JJ, Hazinski MF; American Heart Association Emergency Cardiovascular Care Science Subcommittee; American Heart Association Emergency Cardiovascular Care Pediatric Emphasis Group; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; and Stroke Council. Pediatric Post-Cardiac Arrest Care: A Scientific Statement From the American Heart Association. Circulation 2019 June 27. Doi:10.1161/CIR.0000000000000697
Abstract: Compound heterozygotes occur when different variants at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of variants at the individual level. We used VarCount to characterize compound heterozygous coding variants in patients with epileptic encephalopathy and in the 1000 Genomes Project participants. The Epi4k data contains variants identified by whole exome sequencing in patients with either Lennox-Gastaut Syndrome (LGS) or infantile spasms (IS), as well as their parents. We queried the Epi4k dataset (264 trios) and the phased 1000 Genomes Project data (2504 participants) for recessive variants. To assess enrichment, transcript counts were compared between the Epi4k and 1000 Genomes Project participants using minor allele frequency (MAF) cutoffs of 0.5 and 1.0%, and including all ancestries or only probands of European ancestry. In the Epi4k participants, we found enrichment for rare, compound heterozygous variants in six genes, including three involved in neuronal growth and development – PRTG (p = 0.00086, 1% MAF, combined ancestries), TNC (p = 0.022, 1% MAF, combined ancestries) and MACF1 (p = 0.0245, 0.5% MAF, EU ancestry). Due to the total number of transcripts considered in these analyses, the enrichment detected was not significant after correction for multiple testing and higher powered or prospective studies are necessary to validate the candidacy of these genes. However, PRTG, TNC and MACF1 are potential novel recessive epilepsy genes and our results highlight that compound heterozygous variants should be considered in sporadic epilepsy.
