next-generation-sequencing-for-detection-actionable-mutations-solid

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

As our understanding of the driver mutations necessary for initiation and progression of cancers improves, we gain critical information on how specific ...

Perelman School of Medicine, University of Pennsylvania

We report the case of a 69-year-old married man who presented with features of irritability, characterised by outbursts of anger, short-term memory deficits and clumsiness, which progressed over a period of some 20 years. A detailed review elicited motor and verbal agitation during sleep, a history that was only available from his wife. He had excessive daytime sleepiness. A parasomnia in association with his possible neurological disorder was suspected and a referral made to the sleep disorders clinic. Further investigation with polysomnography determined that the abnormal behaviours during the night were secondary to arousals caused by obstructive sleep apnoea. Treatment with continuous positive airways pressure therapy prevented the abnormal behaviours at night, improved his daytime sleepiness but also led to improvements in his clumsiness, short-term memory and temper, all corroborated by his wife.

An unusual presentation of obstructive sleep apnoeas.

In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI.

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

Acquired insulinomas are rare causes of hyperinsulinemic hypoglycemia in children and are much less common than focal lesions of congenital hyperinsulinism. The latter are known to be associated with isodisomy for paternally transmitted ATP-sensitive potassium channel mutations on 11p15; however, the molecular basis for pediatric insulinomas is not well characterized.

Article	Year
An unusual presentation of obstructive sleep apnoeas. BMJ case reports\| PubMed ID: 21686363	2009
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Hormone research in pædiatrics\| PubMed ID: 23859901	2013
Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect. The Journal of clinical endocrinology and metabolism\| PubMed ID: 26756113	2016

Karthik Ganapathy

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