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Author (down) Yi, F.; Danko, T.; Botelho, S.C.; Patzke, C.; Pak, C.H.; Wernig, M.; Sudhof, T.C. url  doi
openurl 
  Title Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons Type Journal Article
  Year 2016 Publication Science (New York, N.Y.) Abbreviated Journal Science  
  Volume 352 Issue 6286 Pages aaf2669  
  Keywords Action Potentials; Animals; Autism Spectrum Disorder/*genetics; Cells, Cultured; Channelopathies/*genetics; Chromosome Deletion; Chromosome Disorders/genetics; Chromosomes, Human, Pair 22/genetics; Embryonic Stem Cells/metabolism; Gene Deletion; Genetic Engineering; *Genetic Predisposition to Disease; Haploinsufficiency/*genetics; Humans; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/metabolism; Mice; Mice, Knockout; Mutagenesis; Nerve Tissue Proteins/*genetics/metabolism; Neurons/*metabolism; Synapses/physiology; Synaptic Transmission  
  Abstract Heterozygous SHANK3 mutations are associated with idiopathic autism and Phelan-McDermid syndrome. SHANK3 is a ubiquitously expressed scaffolding protein that is enriched in postsynaptic excitatory synapses. Here, we used engineered conditional mutations in human neurons and found that heterozygous and homozygous SHANK3 mutations severely and specifically impaired hyperpolarization-activated cation (Ih) channels. SHANK3 mutations caused alterations in neuronal morphology and synaptic connectivity; chronic pharmacological blockage of Ih channels reproduced these phenotypes, suggesting that they may be secondary to Ih-channel impairment. Moreover, mouse Shank3-deficient neurons also exhibited severe decreases in Ih currents. SHANK3 protein interacted with hyperpolarization-activated cyclic nucleotide-gated channel proteins (HCN proteins) that form Ih channels, indicating that SHANK3 functions to organize HCN channels. Our data suggest that SHANK3 mutations predispose to autism, at least partially, by inducing an Ih channelopathy that may be amenable to pharmacological intervention.  
  Address Department of Molecular and Cellular Physiology, Stanford University School of Medicine, 265 Campus Drive, Stanford, CA 94305, USA. Howard Hughes Medical Institute, Stanford University School of Medicine, 265 Campus Drive, Stanford, CA 94305, USA. tcs1@stanford.edu  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0036-8075 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:26966193 Approved no  
  Call Number ref @ user @ Serial 95969  
Permanent link to this record
 

 
Author (down) Yeung, E.H.; Sundaram, R.; Bell, E.M.; Druschel, C.; Kus, C.; Ghassabian, A.; Bello, S.; Xie, Y.; Buck Louis, G.M. url  doi
openurl 
  Title Examining Infertility Treatment and Early Childhood Development in the Upstate KIDS Study Type Journal Article
  Year 2016 Publication JAMA Pediatrics Abbreviated Journal JAMA Pediatr  
  Volume Issue Pages 1-9  
  Keywords  
  Abstract Importance: An increasing percentage of births are conceived with assisted reproductive technology (ART) and other infertility treatment. Despite findings that such treatments may be associated with diminished gestation and birth size, scarce data exist regarding infertility treatments and children's development in the United States. Objective: To assess the use and type of infertility treatment in relation to children's development through age 36 months. Design, Setting, and Participants: Prospective cohort study (conducted 2008-2014) that sampled based on infertility treatment and plurality. Included in the study were infants born between 2008 and 2010 in New York state (excluding New York City) whose parents completed developmental screening instruments through 36 months of age. A total of 4824 mothers (97% of 4989) completed 1 or more developmental screening instruments for 5841 children, including 1830 conceived with infertility treatment and 2074 twins. Exposures: Maternal self-report of any infertility treatment was further categorized into ART and ovulation induction/intrauterine insemination. Assisted reproductive technology use was previously validated by linkage with the Society for Assisted Reproductive Technology-Clinical Outcome Reporting System. Main Outcomes and Measures: Five developmental domains (fine motor, gross motor, communication, personal-social functioning, and problem-solving ability), as measured by the parental completion of the Ages and Stages Questionnaires at 4, 8, 12, 18, 24, 30, and 36 months of age. Generalized linear mixed modeling techniques estimated adjusted odds ratios (aORs) and 95% CIs for use and type of infertility treatment in relation to failing a developmental domain. Data were stratified by plurality and weighted for the sampling scheme. Results: There were 1422 mothers (29.5%; mean [SD], age, 34.1 [5.2] years) who underwent infertility treatment. Infertility treatment was not associated with risk of their children failing any developmental domain (aOR, 1.33; 95% CI, 0.94-1.89). Assisted reproductive technology was associated with increased risk for failing any developmental domain but only when singletons and twins were evaluated together (aOR, 1.81; 95% CI, 1.21-2.72). Adjustment for birth weight further attenuated this estimate (aOR, 1.26; 95% CI, 0.82-1.93). After stratifying by plurality, type of treatment also was not significantly associated with failing any developmental domain for ovulation induction/intrauterine insemination (aOR, 1.00; 95% CI, 0.57-1.77 for singletons and aOR, 1.30; 95% CI, 0.76-2.21 for twins) or ART (aOR, 1.38; 95% CI, 0.78-2.43 for singletons and aOR, 1.58; 95% CI, 0.94-2.65 for twins). Conclusions and Relevance: After considering plurality, children's development through age 3 years was similar irrespective of infertility treatment or specific type. To our knowledge, these findings are among the first to focus on non-ART treatments in the United States.  
  Address Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2168-6203 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:26746435 Approved no  
  Call Number ref @ user @ Serial 90800  
Permanent link to this record
 

 
Author (down) Yang, B.; Shi, M.-Q.; Li, Z.-H.; Yang, J.-J.; Li, D. url  doi
openurl 
  Title Fish, Long-Chain n-3 PUFA and Incidence of Elevated Blood Pressure: A Meta-Analysis of Prospective Cohort Studies Type Journal Article
  Year 2016 Publication Nutrients Abbreviated Journal Nutrients  
  Volume 8 Issue 1 Pages  
  Keywords blood pressure; fish; meta-analysis; n-3 PUFA  
  Abstract Results from prospective cohort studies on fish or long-chain (LC) n-3 polyunsaturated fatty acid (PUFA) intake and elevated blood pressure (EBP) are inconsistent. We aimed to investigate the summary effects. Pertinent studies were identified from PubMed and EMBASE database through October 2015. Multivariate-adjusted risk ratios (RRs) for incidence of EBP in the highest verses the bottom category of baseline intake of fish or LC n-3 PUFA were pooled using a random-effects meta-analysis. Over the follow-up ranging from 3 to 20 years, 20,497 EBP events occurred among 56,204 adults from eight prospective cohort studies. The summary RR (SRR) was 0.96 (95% CI: 0.81, 1.14; I(2) = 44.70%) for fish in four studies, and 0.73 (95% CI: 0.60, 0.89; I(2) = 75.00%) for LC n-3 PUFA in six studies (three studies for biomarker vs. three studies for diet). Circulating LC n-3 PUFA as biomarker was inversely associated with incidence of EBP (SRR: 0.67; 95% CI: 0.55, 0.83), especially docosahexaenoic acid (SRR: 0.64; 95% CI: 0.45, 0.88), whereas no significant association was found for dietary intake (SRR: 0.80; 95% CI: 0.58, 1.10). The present finding suggests that increased intake of docosahexaenoic acid to improve its circulating levels may benefit primary prevention of EBP.  
  Address Department of Food Science and Nutrition, Zhejiang University, Hangzhou 310058, China. duoli@zju.edu.cn  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2072-6643 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:26805877 Approved no  
  Call Number ref @ user @ Serial 92550  
Permanent link to this record
 

 
Author (down) Yan, C.H.; Xu, T.; Zheng, X.Y.; Sun, J.; Duan, X.L.; Gu, J.L.; Zhao, C.L.; Zhu, J.; Wu, Y.H.; Wu, D.P.; Hu, J.D.; Huang, H.; Jiang, M.; Li, J.; Hou, M.; Wang, C.; Shao, Z.H.; Liu, T.; Hu, Y.; Huang, X.J. url  openurl
  Title [Epidemiology of febrile neutropenia in patients with hematological disease-a prospective multicentre survey in China] Type Observational Study
  Year 2016 Publication Zhonghua xue ye xue za zhi = Zhonghua Xueyexue Zazhi Abbreviated Journal Zhonghua Xue Ye Xue Za Zhi  
  Volume 37 Issue 3 Pages 177-182  
  Keywords Anti-Bacterial Agents/administration & dosage/adverse effects; Catheterization, Central Venous/adverse effects; China/epidemiology; Febrile Neutropenia/*epidemiology/microbiology; Fever/*epidemiology; Gram-Negative Bacteria/isolation & purification; Gram-Positive Bacteria/isolation & purification; Humans; Mucositis/epidemiology; Prospective Studies; Risk Factors; Surveys and Questionnaires; Time Factors  
  Abstract OBJECTIVE: To investigate the incidence, clinical and microbiological features of febrile, and risk factors during neutropenia periods in patients with hematological diseases. METHODS: From October 20, 2014 to March 20, 2015, consecutive patients who had hematological diseases and developed neutropenia during hospitalization were enrolled in the prospective, multicenter and observational study. RESULTS: A total of 784 episodes of febrile occurred in 1 139 neutropenic patients with hematological diseases. The cumulative incidence of febrile was 81.9% at 21 days after neutropenia. Multivariate analysis suggested that central venous catheterization (P<0.001, HR=3.407, 95% CI 2.276-4.496), gastrointestinal mucositis (P<0.001, HR=10.548, 95% CI 3.245-28.576), previous exposure to broad-spectrum antibiotics within 90 days (P<0.001, HR=3.582, 95% CI 2.387-5.770) and duration of neutropenia >7 days (P<0.001,HR=4.194, 95% CI 2.572-5.618) were correlated with higher incidence of febrile during neutropenia. With the increase of the risk factors, the incidence of febrile increased gradually (35.4%, 69.2%, 86.1%, 95.6%, P<0.001). Of 784 febrile cases, 253 (32.3%) were unknown origin, 429 (54.7% )of clinical documented infections and 102(13.0%) of microbiological documented infections. The most common sites of infection were pulmonary (49.5%), upper respiratory (16.0%), crissum (9.8%), blood stream (7.7%). The most common pathogens were gram-negative bacteria (44.54%), followed by gram-positive bacteria (37.99% ) and fungi (17.47% ). There was no significant difference in mortality rates between cases with febrile and cases without febrile (9.2% vs 4.8%, P=0.099). Multivariate analysis also suggested that >40 years old (P=0.047, HR=5.000, 95% CI 0.853-28.013), hemodynamic instability (P=0.001, HR=13.185, 95% CI 2.983-54.915), prior colonization or infection by resistant pathogens (P=0.005, HR=28.734, 95% CI 2.921-313.744), blood stream infection (P=0.038, HR=9.715, 95% CI 1.110-81.969) and pulmonary infection (P=0.031, HR=25.905, 95% CI 1.381-507.006) were correlated with higher mortality rate in cases with febrile. CONCLUSIONS: Febrile was the common complication during neutropenia periods in patients with hematological disease. There was different distribution of organisms in different sites of infection. Moreove, the duration of neutropenia >7 days, central venous catheterization, gastrointestinal mucositis and previous exposure to broad-spectrum antibiotics within 90 days were the risk factors for the higher incidence of febrile.  
  Address Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Chinese Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0253-2727 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:27033752 Approved no  
  Call Number ref @ user @ Serial 99497  
Permanent link to this record
 

 
Author (down) Yan, C.H.; Xu, T.; Zheng, X.Y.; Sun, J.; Duan, X.L.; Gu, J.L.; Zhao, C.L.; Zhu, J.; Wu, Y.H.; Wu, D.P.; Hu, J.D.; Huang, H.; Jiang, M.; Li, J.; Hou, M.; Wang, C.; Shao, Z.H.; Liu, T.; Hu, Y.; Huang, X.J. url  openurl
  Title [Epidemiology of febrile neutropenia in patients with hematological disease-a prospective multicentre survey in China] Type Observational Study
  Year 2016 Publication Zhonghua xue ye xue za zhi = Zhonghua Xueyexue Zazhi Abbreviated Journal Zhonghua Xue Ye Xue Za Zhi  
  Volume 37 Issue 3 Pages 177-182  
  Keywords Anti-Bacterial Agents/administration & dosage/adverse effects; Catheterization, Central Venous/adverse effects; China/epidemiology; Febrile Neutropenia/*epidemiology/microbiology; Fever/*epidemiology; Gram-Negative Bacteria/isolation & purification; Gram-Positive Bacteria/isolation & purification; Humans; Mucositis/epidemiology; Prospective Studies; Risk Factors; Surveys and Questionnaires; Time Factors  
  Abstract OBJECTIVE: To investigate the incidence, clinical and microbiological features of febrile, and risk factors during neutropenia periods in patients with hematological diseases. METHODS: From October 20, 2014 to March 20, 2015, consecutive patients who had hematological diseases and developed neutropenia during hospitalization were enrolled in the prospective, multicenter and observational study. RESULTS: A total of 784 episodes of febrile occurred in 1 139 neutropenic patients with hematological diseases. The cumulative incidence of febrile was 81.9% at 21 days after neutropenia. Multivariate analysis suggested that central venous catheterization (P<0.001, HR=3.407, 95% CI 2.276-4.496), gastrointestinal mucositis (P<0.001, HR=10.548, 95% CI 3.245-28.576), previous exposure to broad-spectrum antibiotics within 90 days (P<0.001, HR=3.582, 95% CI 2.387-5.770) and duration of neutropenia >7 days (P<0.001,HR=4.194, 95% CI 2.572-5.618) were correlated with higher incidence of febrile during neutropenia. With the increase of the risk factors, the incidence of febrile increased gradually (35.4%, 69.2%, 86.1%, 95.6%, P<0.001). Of 784 febrile cases, 253 (32.3%) were unknown origin, 429 (54.7% )of clinical documented infections and 102(13.0%) of microbiological documented infections. The most common sites of infection were pulmonary (49.5%), upper respiratory (16.0%), crissum (9.8%), blood stream (7.7%). The most common pathogens were gram-negative bacteria (44.54%), followed by gram-positive bacteria (37.99% ) and fungi (17.47% ). There was no significant difference in mortality rates between cases with febrile and cases without febrile (9.2% vs 4.8%, P=0.099). Multivariate analysis also suggested that >40 years old (P=0.047, HR=5.000, 95% CI 0.853-28.013), hemodynamic instability (P=0.001, HR=13.185, 95% CI 2.983-54.915), prior colonization or infection by resistant pathogens (P=0.005, HR=28.734, 95% CI 2.921-313.744), blood stream infection (P=0.038, HR=9.715, 95% CI 1.110-81.969) and pulmonary infection (P=0.031, HR=25.905, 95% CI 1.381-507.006) were correlated with higher mortality rate in cases with febrile. CONCLUSIONS: Febrile was the common complication during neutropenia periods in patients with hematological disease. There was different distribution of organisms in different sites of infection. Moreove, the duration of neutropenia >7 days, central venous catheterization, gastrointestinal mucositis and previous exposure to broad-spectrum antibiotics within 90 days were the risk factors for the higher incidence of febrile.  
  Address Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Chinese Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0253-2727 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:27033752 Approved no  
  Call Number ref @ user @ Serial 100527  
Permanent link to this record
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