Taliya Farooq

Complete Genome Sequences of Nine Enterovirus D68 Strains from Patients of the Lower Hudson Valley, New York, 2016

ABSTRACT Complete genome sequences of nine enterovirus D68 (EV-D68) strains from patients in New York were obtained in 2016 by metagenomic next-generation sequencing. Comparative genomic analysis suggests that a new subclade B3, with ~4.5% nucleotide divergence from subclade B1 strains causing the 2014 outbreak, is circulating in the United States in 2016.

334 Whole Exome Sequencing of End Stage Renal Disease Associated Papillary Renal Cell Carcinoma (PRCCs)

kit (Innogenetics, Belgium), which detects 57 CFTR gene mutations and IVS8-poliT polymorphism, including both general and Italian regional strips. Results: Among the screened couples, 9.2% were composed by at least a carrier of a CTFR mutation. Considering all 7,849 individuals, we found heterozygosis in one to 22 subjects. Compound heterozygosis was found in three individuals. Eight mutations were detected exclusively in men, and nine in women. 9T allele in ISV8-poliT was found in 65% of carriers of at least a CFTR mutation vs 20% of subjects with no mutation (P < .001). Conversely, 7T allele was found in 98% vs 90% (P < .001). Conclusion: Our results reinforce the relevance of an accurate determination of mutations in the CFTR gene, including the ISV8-poliT, in order to inform the couple of their carrier risk and the possibility of having an affected child.

Extramedullary hematopoiesis presented as cytopenia and massive paraspinal masses leading to cord compression in a patient with hereditary persistence of fetal hemoglobin

BackgroundExtramedullary hematopoeisis (EMH) can occur in various physiological and pathologic states. The spleen is the most common site of EMH.Case presentationWe report a case with hereditary persistence of fetal hemoglobin with extramedullary hematopoiesis presented as cord compression and cytopenia secondary to multi-paraspinal masses.ConclusionTreatment can be a challenge. Relapse is a possibility.