2016 Highlights

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February 18, 2016

Volume 374, Issue 7

Case Records of MGH. Case 5-2016. A 43-Year-Old Man with Altered Mental Status and a History of Alcohol Use

A 43-year-old man with a history of alcohol-use disorder was admitted to this hospital because of altered mental status.

On the day of admission, the patient was found by emergency medical services personnel, who had been contacted by a neighbor. He was sitting on a mattress, was incontinent of feces and urine, and was surrounded by empty prescription containers for gabapentin and bupropion...

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February 20, 2016

Volume 387, Issue 10020

Hydrocephalus in children

Hydrocephalus is a common disorder of cerebral spinal fluid (CSF) physiology resulting in abnormal expansion of the cerebral ventricles. Infants commonly present with progressive macrocephaly whereas children older than 2 years generally present with signs and symptoms of intracranial hypertension. The classic understanding of hydrocephalus as the result of obstruction to bulk flow of CSF is evolving to models that incorporate dysfunctional cerebral pulsations, brain compliance, and newly...

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December 15, 2016

Volume 30, Issue 24

Functional genomics reveals that tumors with activating phosphoinositide 3-kinase mutations are dependent on accelerated protein turnover

Activating mutations in the phosphoinositide 3-kinase (PI3K) signaling pathway are frequently identified in cancer. To identify pathways that support PI3K oncogenesis, we performed a genome-wide RNAi screen in isogenic cell lines harboring wild-type or mutant PIK3CA to search for PI3K synthetic-lethal (SL) genes...

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Davoli, T., Mengwasser, K. E., Duan, J., Chen, T., Christensen, C., Wooten, E. C., … Elledge, S. J. (2016). Functional genomics reveals that tumors with activating phosphoinositide 3-kinase mutations are dependent on accelerated protein turnover. Genes & Development, 30(24), 2684–2695. http://doi.org/10.1101/gad.290122.116

Duran, D., Jin, S. C., DeSpenza, T., Nelson-Williams, C., Cogal, A. G., Abrash, E. W., … Kahle, K. T. (2016). Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation. Human Genome Variation, 3(1), 16042. http://doi.org/10.1038/hgv.2016.42

Kahle, K. T., Kulkarni, A. V, Limbrick, D. D., & Warf, B. C. (2016). Hydrocephalus in children. The Lancet, 387(10020), 788–799. http://doi.org/10.1016/S0140-6736(15)60694-8

Zhang, J., Deng, X., & Kahle, K. T. (2016). Leveraging unique structural characteristics of WNK kinases to achieve therapeutic inhibition. Science Signaling, 9(450), pe3-pe3. http://doi.org/10.1126/scisignal.aaj2227

Kahle, K. T., Khanna, A. R., Duan, J., Staley, K. J., Delpire, E., & Poduri, A. (2016). The KCC2 Cotransporter and Human Epilepsy. The Neuroscientist, 22(6), 555–562. http://doi.org/10.1177/1073858416645087

Karimy, J. K., Duran, D., Hu, J. K., Gavankar, C., Gaillard, J. R., Bayri, Y., … Kahle, K. T. (2016). Cerebrospinal fluid hypersecretion in pediatric hydrocephalus. Neurosurgical Focus, 41(5), E10. http://doi.org/10.3171/2016.8.FOCUS16278

Zhang, J., Gao, G., Begum, G., Wang, J., Khanna, A. R., Shmukler, B. E., … Kahle, K. T. (2016). Functional kinomics establishes a critical node of volume-sensitive cation-Cl− cotransporter regulation in the mammalian brain. Scientific Reports, 6(1), 35986. http://doi.org/10.1038/srep35986

Lucchesi, K. M., Grant, R., Kahle, K. T., Marks, A. M., & DiLuna, M. L. (2016). Primary spinal myxopapillary ependymoma in the pediatric population: a study from the Surveillance, Epidemiology, and End Results (SEER) database. Journal of Neuro-Oncology, 130(1), 133–140. http://doi.org/10.1007/s11060-016-2218-6

Kahle, K. T., Flores, B., Bharucha-Goebel, D., Zhang, J., Donkervoort, S., Hegde, M., … Delpire, E. (2016). Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Science Signaling, 9(439), ra77-ra77. http://doi.org/10.1126/scisignal.aae0546

Kahle, K. T., Schmouth, J.-F., Lavastre, V., Latremoliere, A., Zhang, J., Andrews, N., … Rouleau, G. A. (2016). Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition. Science Signaling, 9(421), ra32-ra32. http://doi.org/10.1126/scisignal.aad0163

Merner, N. D., Mercado, A., Khanna, A. R., Hodgkinson, A., Bruat, V., Awadalla, P., … Kahle, K. T. (2016). Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. Journal of Psychiatric Research, 77, 22–26. http://doi.org/10.1016/j.jpsychires.2016.02.016