Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Purpose: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.

Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.

Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders.

Functional Communication Training for Multiple Reinforcers: an Evaluation of Isolated Control Following a Synthesized Context.

We evaluated the effectiveness of teaching 2 functionally and topographically dissimilar communication responses within the same sessions following a functional analysis with a synthesized contingency. We also conducted stimulus-control probes to determine the extent to which communication responses and problem behavior occurred when each contingency was presented in isolation. The child in the current study acquired communicative responses for both reinforcers, and problem behavior decreased during functional communication training (FCT).

Nucleophilic reactions between thiols and a tobacco specific nitrosamine metabolite, 4-hydroxy-1-(3-pyridyl)-1-butanone.

4-Hydroxy-1-(3-pyridyl)-1-butanone (HPB) is a metabolite of the tobacco specific nitrosamines, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) and N'-nitrosonornicotine (NNN). HPB is also a breakdown product of covalently bound pyridyloxobutyl adducts resulting from NNK and NNN exposure. HPB released from DNA or hemoglobin has been used as an important dosimeter of tobacco specific nitrosamine exposure in a variety of studies.