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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study.
Disma N, Virag K, Riva T, Kaufmann J, Engelhardt T, Habre W; NECTARINE Group of the European Society of Anaesthesiology Clinical Trial Network; AUSTRIA (Maria Vittinghoff); BELGIUM (Francis Veyckemans); CROATIA (Sandra Kralik); CZECH REPUBLIC (Jiří Žurek); DENMARK (Tom Hansen); ESTONIA (Reet Kikas); FINLAND (Tuula Manner); FRANCE (Christophe Dadure, Anne Lafargue); GERMANY (Karin Becke, Claudia Hoehne); GREECE (Anna Malisiova); HUNGARY (Andrea Székely); IRELAND (Brendan O’Hare); ITALY (Nicola Disma); LATVIA (Zane Straume); LITHUANIA (Laura Lukosiene); LUXEMBOURG (Bernd Schmitz); MALTA (Francis Borg); NETHERLANDS (Jurgen de Graaff); NORWAY (Wenche B Boerke); POLAND (Marzena Zielinska); PORTUGAL (Maria Domingas Patuleia); ROMANIA (Radu Tabacaru); SERBIA (Dusica Simic); SLOVAKIA (Miloslav Hanula); SLOVENIA (Jelena Berger); SPAIN (Ignacio Gálvez Escalera); SWEDEN (Albert Castellheim); SWITZERLAND (Walid Habre); TURKEY (Dilek Özcengiz - Zehra Hatipoğlu); UKRAINE (Dmytro Dmytriiev); UNITED KINGDOM (Thomas Engelhardt, Suellen Walker); Management Team. Disma N, et al. Br J Anaesth. 2021 Jun;126(6):1173-1181. doi: 10.1016/j.bja.2021.02.021. Epub 2021 Apr 1. Br J Anaesth. 2021. PMID: 33812665 Free article.
Bradycardia occurred in 8% of the cases with difficult intubation, whereas a significant decrease in oxygen saturation (SpO(2)<90% for 60 s) was reported in 40%. No associated risk factors could be identified among co-morbidities, surgical, or anaesthesia management. .. …
Bradycardia occurred in 8% of the cases with difficult intubation, whereas a significant decrease in oxygen saturation (SpO(2)<90% for 60 …
Morbidity and mortality after anaesthesia in early life: results of the European prospective multicentre observational study, neonate and children audit of anaesthesia practice in Europe (NECTARINE).
Disma N, Veyckemans F, Virag K, Hansen TG, Becke K, Harlet P, Vutskits L, Walker SM, de Graaff JC, Zielinska M, Simic D, Engelhardt T, Habre W; NECTARINE Group of the European Society of Anaesthesiology Clinical Trial Network; Austria; Belgium; Croatia; Czech Republic; Denmark; Estonia; Finland; France; Germany; Greece; Hungary; Ireland; Italy; Latvia; Lithuania; Luxembourg; Malta; Netherlands; Norway; Poland; Portugal; Romania; Serbia; Slovakia; Slovenia; Spain; Switzerland; Turkey; Ukraine; United Kingdom. Disma N, et al. Br J Anaesth. 2021 Jun;126(6):1157-1172. doi: 10.1016/j.bja.2021.02.016. Epub 2021 Apr 1. Br J Anaesth. 2021. PMID: 33812668 Free article.
RESULTS: Infants (n=5609) born at mean (standard deviation [sd]) 36.2 (4.4) weeks postmenstrual age (35.7% preterm) underwent 6542 procedures within 63 (48) days of birth. Critical event(s) requiring intervention occurred in 35.2% of cases, mainly hypotension (>30% decr …
RESULTS: Infants (n=5609) born at mean (standard deviation [sd]) 36.2 (4.4) weeks postmenstrual age (35.7% preterm) underwent 6542 procedure …
Mechanical properties of the tracheal mucosal membrane in the rabbit. I. steady-state stiffness as a function of age.
Wang L, Tepper R, Bert JL, Pinder KL, Paré PD, Okazawa M. Wang L, et al. J Appl Physiol (1985). 2000 Mar;88(3):1014-21. doi: 10.1152/jappl.2000.88.3.1014. J Appl Physiol (1985). 2000. PMID: 10710398 Free article.
Respir. Crit. Care Med. 151: 836-840, 1995; R.S. Tepper, S.J. Gunst, C.M. Doerschuk, Y. Shen, and W. Bray. J. Appl. Physiol. 78: 505-512, 1995; R.S. Tepper, J. Stevens, and H. Eigen. Am. J. Respir. Crit. Care Med. 149: 678-681, 1994) could be due to ch …
Respir. Crit. Care Med. 151: 836-840, 1995; R.S. Tepper, S.J. Gunst, C.M. Doerschuk, Y. Shen, and W. Bray. J. Appl. Physiol. 7 …
Corrigendum to 'Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study' (Br J Anaesth 2021; 126: 1173-81).
Disma N, Virag K, Riva T, Kaufmann J, Engelhardt T, Habre W; NECTARINE Group of the European Society of Anaesthesiology Clinical Trial Network; AUSTRIA (Maria Vittinghoff); BELGIUM (Francis Veyckemans); CROATIA (Sandra Kralik); CZECH REPUBLIC (Jiří Žurek); DENMARK (Tom Hansen); ESTONIA (Reet Kikas); FINLAND (Tuula Manner); FRANCE (Christophe Dadure, Anne Lafargue); GERMANY (Karin Becke, Claudia Hoehne); GREECE (Anna Malisiova); HUNGARY (Andrea Székely); IRELAND (Brendan O’Hare); ITALY (Nicola Disma); LATVIA (Zane Straume); LITHUANIA (Laura Lukosiene); LUXEMBOURG (Bernd Schmitz); MALTA (Francis Borg); NETHERLANDS (Jurgen de Graaff); NORWAY (Wenche B Boerke); POLAND (Marzena Zielinska); PORTUGAL (Maria Domingas Patuleia); ROMANIA (Radu Tabacaru); SERBIA (Dusica Simic); SLOVAKIA (Miloslav Hanula); SLOVENIA (Jelena Berger); SPAIN (Ignacio Gálvez Escalera); SWEDEN (Albert Castellheim); SWITZERLAND (Walid Habre); TURKEY (Dilek Özcengiz - Zehra Hatipoğlu); UKRAINE (Dmytro Dmytriiev); UNITED KINGDOM (Thomas Engelhardt, Suellen Walker); Management Team. Disma N, et al. Br J Anaesth. 2021 Aug;127(2):326. doi: 10.1016/j.bja.2021.05.015. Epub 2021 Jun 10. Br J Anaesth. 2021. PMID: 34119312 No abstract available.