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Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De novo mutations in pogo transposable element with zinc finger domain (POGZ) have been identified in six independent and(More)
Proteasome inhibitors, a novel class of chemotherapeutic agents, enhance the antitumor efficacy of anthracyclines in vitro and in vivo. We therefore sought to determine the maximum tolerated dose (MTD) and dose-limiting toxicities of bortezomib and pegylated liposomal doxorubicin (PegLD). Bortezomib was given on days 1, 4, 8, and 11 from 0.90 to 1.50 mg/m2(More)
Hydrotherapy is often used in the treatment of fibromyalgia syndrome (FMS), however there has been limited evaluation of its effectiveness. The aim of this systematic review was therefore to examine the effectiveness of hydrotherapy in the management of FMS. AMED, BNI, CINAHL, The Cochrane Library, EMBASE, MEDLINE, ProQuest, PubMed, Science Direct and Web(More)
We studied 28 patients with accelerated phase chronic myelogenous leukemia (CML) who were enrolled on the Novartis expanded access study 114. Diagnosis of accelerated phase CML was based on karyotypic evolution (n = 9) and hematologic criteria (n = 18). All patients were begun on 600 mg/day of imatinib mesylate. Dose reductions to 400 mg/day and then 300(More)
PURPOSE To evaluate the effectiveness of blood pressure [BP] screenings through community-based health fairs. Effectiveness was measured by those with high BP readings who either made an appointment with or actually followed up with their primary care provider [PCP] in person following post-screening referral. DATA SOURCES Anonymized data were provided(More)
Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel,(More)
Acknowledgements We would like to express our gratitude to everyone who contributed to the project by disposing of their time and knowledge to make this project possible. It was an arduous but certainly rewarding and fulfilling process that enjoyed the receptiveness and collaboration of many people across three different continents. In particular, we would(More)
of Counseling Outfitters, LLC. Its purpose is to provide a means of capturing the ideas, information and experiences generated by the annual ACA Conference and selected ACA Division Conferences. Papers on a program or practice that has been validated through research or experience may also be submitted. This digital collection of peer-reviewed articles is(More)