7 research outputs found
KAT6A Syndrome:genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
- Author
- Arboleda Valerie A
- Armstrong Ruth
- Babovic-Vuksanovic Dusica
- Bierhals Tatjana
- Blackburn Patrick
- Blair Edward
- Blomhoff Anne
- Bradbury Kimberley
- Chandler Kate
- Cogne Benjamin
- Dingemans Alexander JM
- Douine Emilie D
- Duff-Farrier Celia
- Elting Mariet
- Falk Marni J
- Goudie David
- Green Andrew
- Hakonarson Hakon
- Hempel Maja
- Heussler Helen
- Hopper Bruce
- Hudgins Louanne
- Isidor Bertrand
- Johannsen Jessika
- Joss Shelagh
- Kamien Benjamin
- Kant Sarina
- Kennedy Joanna
- Kini Usha
- Klee Eric
- Lakeman Phillis
- Lees Melissa
- Lessel Davor
- Li Dong
- Macnamara Ellen
- Matsumoto Naomichi
- McCormick Elizabeth
- McKay Victoria
- Miyake Noriko
- Murphy Jennifer L
- Nelson Stanley F
- Newbury-Ecob Ruth
- Nibbeling Esther
- Okamoto Nobuhiko
- Patel Chirag
- Reijnders Margot
- Ruivenkamp Claudia AL
- Schelley Susan
- Schuurs-Hoeijmakers Janneke
- Scurr Ingrid
- Stark Zornitza
- Tan Tiong Yang
- Wafik Mohamed
- Williams Mark
- Yap Patrick
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 24/09/2018
- Field of study
Purpose Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported. Methods We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review. Results We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype– phenotype correlations show that late-truncating pathogenic variants (exons 16–17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction. Conclusion Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management
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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Author
- Arboleda Valerie A
- Armstrong Ruth
- Babovic-Vuksanovic Dusica
- Bierhals Tatjana
- Blackburn Patrick
- Blair Edward
- Blomhoff Anne
- Bradbury Kimberley
- Chandler Kate
- Cogne Benjamin
- Dingemans Alexander JM
- Douine Emilie D
- Duff-Farrier Celia
- Elting Mariet
- Falk Marni J
- Goudie David
- Green Andrew
- Hakonarson Hakon
- Hempel Maja
- Heussler Helen
- Hopper Bruce
- Hudgins Louanne
- Isidor Bertrand
- Johannsen Jessika
- Joss Shelagh
- Kamien Benjamin
- Kant Sarina
- Kennedy Joanna
- Kini Usha
- Klee Eric
- Lakeman Phillis
- Lees Melissa
- Lessel Davor
- Li Dong
- Macnamara Ellen
- Matsumoto Naomichi
- McCormick Elizabeth
- McKay Victoria
- Miyake Noriko
- Murphy Jennifer L
- Nelson Stanley F
- Newbury-Ecob Ruth
- Nibbeling Esther
- Okamoto Nobuhiko
- Patel Chirag
- Reijnders Margot
- Ruivenkamp Claudia AL
- Schelley Susan
- Schuurs-Hoeijmakers Janneke
- Scurr Ingrid
- Stark Zornitza
- Tan Tiong Yang
- Wafik Mohamed
- Williams Mark
- Yap Patrick
- Publication venue
- eScholarship, University of California
- Publication date
- 01/04/2019
- Field of study
PurposePathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported.MethodsWe obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review.ResultsWe identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction.ConclusionOur data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management
Recommended from our members
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
- Author
- Alkhunaizi Ebba
- Awamleh Zain
- Berry Ian R
- Bhoj Elizabeth
- Bosch Danielle GM
- Brackel Hein
- Brunetti-Pierri Nicola
- Brunner Han G
- Bunn Jason
- Caluseriu Oana
- Campbell Jennifer
- Cappuccio Gerarda
- Charkow Joshua
- Chater-Diehl Eric
- Chitayat David
- Choufani Sanaa
- Cohn Ronald D
- Crunk Amy
- Cuperus Roos
- Cytrynbaum Cheryl
- de Geus Christa M
- de Vries Bert BA
- Deden A Chantal
- Denecke Jonas
- Dingemans Alexander JM
- Folk Leandra
- Gardeitchik Thatjana
- Goodman Sarah J
- Hempel Maja
- Hoang Ny
- Kannu Peter
- Klee Eric W
- Kleefstra Tjitske
- Koolen David A
- Kwint Michael
- Larsen Martin
- Leenders Erika
- Lessel Davor
- Lindstrom Kristin
- Liu Shuxi
- Mertens Mareike
- Meyn Stephen
- Millan Francisca
- Morava Eva
- Neumeyer Ann M
- Nowaczyk Małgorzata JM
- Ousager Lilian B
- Pacio-Míguez Marta
- Pajusalu Sander
- Palomares-Bralo María
- Person Richard
- Pfundt Rolph
- Phornphutkul Chanika
- Platzer Konrad
- Pruniski Brianna
- Radley Jessica A
- Reinson Karit
- Rinne Tuula
- Ritter Alyssa
- Rots Dmitrijs
- Rowe Leah
- Ruivenkamp Claudia
- Saenz Margarita
- Santos-Simarro Fernando
- Scherer Stephen W
- Schmidt Berkley
- Schultz-Rogers Laura
- Siu Michelle T
- Slavotinek Anne
- Stevens Servi JC
- Strober Jonathan
- Stumpel Constance TRM
- Tveten Kristian
- Tønne Elin
- van Binsbergen Ellen
- van Gassen Koen LI
- van Haeringen Arie
- van Harssel Jeske VT
- Vermeulen Jeroen R
- Vissers Lisenka ELM
- Walker Susan
- Weksberg Rosanna
- Wentzensen Ingrid M
- Wilson William G
- Xie Yili
- Yang Hui
- Zou Fanggeng
- Õunap Katrin
- Publication venue
- eScholarship, University of California
- Publication date
- 01/06/2021
- Field of study
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD." All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations
Aneurysm: Epidemiology Aetiology and Pathophysiology
- Author
- A Della Corte
- A Ghorpade
- A Helgadottir
- A Nollendorfs
- A Verloes
- A Visel
- AC Lobato
- AE Koch
- AM Boddy
- AN Elzouki
- Aneurysm Detection and Management Veterans Affairs Cooperative Study Group
- AR Brady
- B Giusti
- C Buckley
- C Koksal
- C Olsson
- C Reeps
- C Xu
- CJ Vlijmen-Van Keulen Van
- CM Wahlgren
- D Mao
- D Reed
- DA Vorp
- DC Guo
- DJ Barker
- DM Milewicz
- DR Holmes
- E Allaire
- E Allaire
- E Choke
- EL Henderson
- EM Isselbacher
- F.A. Lederle
- FA Lederle
- FA Lederle
- FA Lederle
- FJ Miller Jr
- FJ Schlösser
- G Ailawadi
- G Johansson
- G Tromp
- G Tromp
- G Tromp
- G Tromp
- GG Deng
- GM Lenk
- GM Longo
- GP Shi
- GS Herron
- H Achneck
- H Bengtsson
- H Glimaker
- H Hashikata
- H Kuivaniemi
- H Kuivaniemi
- H Kuivaniemi
- H Kuivaniemi
- H Shibamura
- H Yasuda
- H. Kuivaniemi
- HA Ashton
- HJ Borkett-Jones
- HW Kniemeyer
- IM Nordon
- J El-Benna
- J Madaric
- J Nischan
- J Nischan
- J Silence
- J Zhang
- JA Curci
- JA Curci
- JA Elefteriades
- JA Elefteriades
- JA Phillippi
- JA Towbin
- JB Knox
- JB Michel
- JC McGregor
- JE Wagenseil
- JF Blanchard
- JF Vollmar
- JH Lillvis
- JI Rossaak
- JJ Alexander
- JM Reilly
- JM Ruddy
- JpP Van Kuijk
- JR Elmore
- JS Campa
- JS Lindholt
- JS Lindholt
- JS Lindholt
- JS Weiss
- JT Powell
- JT Powell
- K Bilguvar
- K Huntington
- K Jones
- K Matsumura
- K Singh
- K Yamasumi
- K Yasuno
- KA Hance
- KA Vardulaki
- KM Newman
- KP Dingemans
- L Cripe
- L Zhu
- LC Brown
- LJ Walton
- LK Bickerstaff
- LM Holdt
- M Kazi
- M Kazi
- M Rouis
- M Thomas
- M Truijers
- MA Clifton
- MA Coady
- MA Dubick
- MD Tilson
- MD Tilson
- MI Liddington
- ML McCormick
- MM Thompson
- MP Nevitt
- MP Newman
- N Diehm
- N Sakalihasan
- N Sakalihasan
- N Sakalihasan
- N Sakalihasan
- N Sakalihasan
- N Yajima
- NA Tamarina
- OD Defawe
- OD Defawe
- P Carmeliet
- P Eriksson
- P Khau Van Kien
- PB Dobrin
- PK Shah
- PP Majumder
- PW Fedak
- R Deka
- R Limet
- R Pyo
- RA Cambria
- RA Scott
- RB Griepp
- RF Gillum
- RJ Rizzo
- RT Pachulski
- RW Thompson
- RW Thompson
- S Acosta
- S Anidjar
- S Ito
- S Menashi
- S Nistri
- S Shantikumar
- S Shiraya
- S Weinsheimer
- SH Forsdahl
- SK Rao
- ST MacSweeney
- T Foroud
- T Ogata
- T Ogata
- TB Wilmink
- TW Carrell
- UK Small Aneurysm Trial Participants
- UK Small Aneurysm Trial Participants
- V Davis
- V Erentug
- V Fontaine
- V Fontaine
- V Pressler
- VS Ramanath
- W Xiong
- WD Clouse
- WD Clouse
- WD McMillan
- XY Xu
- Ö Norrgård
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Balancing ecosystem function, services and disservices resulting from expanding goose populations
- Author
- A Bechet
- A García-Álvarez
- A Guldemond
- A Hirschfeld
- A Iacobelli
- A Lehikoinen
- AD Fox
- AD Fox
- AD Fox
- AD Fox
- AD Fox
- AE Mini
- AJ Graaf Van der
- AJ Graaf Van der
- AJ Green
- AJ Green
- Anthony D. Fox
- AP Jano
- B Balkenhol
- B Fisher
- B Milakovic
- B Milakovic
- B Olsen
- BA Manny
- BA Manny
- BJ Dingemans
- BJ Fu
- BJ Hoye
- C Arzel
- C Ingram
- C Ramo
- CA Enright
- CE Adams
- CL Hitchcock
- CR Ayers
- CT Pettigrew
- D Cole
- D Hussong
- D MacMillan
- DC MacMillan
- DJ Alexander
- DJ Prosser
- DM Fallacara
- DM Fallacara
- DM Post
- DO Ferraro
- DR Bazely
- DR Bradbeer
- DR Cope
- DR Klein
- DS Hik
- DS Srivastava
- E Rutschke
- EA Schuur
- ER Chang
- F Berkes
- FJ Sijtsma
- FM Colles
- G Gauthier
- G Gauthier
- G Louette
- G Samelius
- G Vivian-Smith
- GA Wobeser
- GJ Geest Van
- GK Nürnberg
- GM Haramis
- GT Hvenegaard
- GT Hvenegaard
- GWTA Groot Bruinderink
- H Chen
- H Ford
- H Lévesque
- H Meyer
- H Rönicke
- H Tallis
- HH Bruun
- HHT Prins
- HJ Laanbroek
- HP Jeugd Van der
- HP Jeugd van der
- I Bainbridge
- J Beaulieu
- J Boyd
- J Edgell
- J Figuerola
- J Figuerola
- J Kear
- J Kear
- J Madsen
- J Prop
- J Prop
- J Smart
- J Stahl
- JA Amat
- JA Beston
- JA Kadlec
- JA Somarelli
- JA Vickery
- JDM Speed
- JE Hines
- JF Giroux
- JF Kitchell
- JH Middleton
- JH Mooij
- JL Bantle
- JL Maron
- JM Coluccy
- JM Sarneel
- JW Bjerke
- K Allard
- K Dhama
- K Gerdes
- KF Abraham
- KF Abraham
- KJ Wallace
- KK Clausen
- KM Buckeridge
- KW Prestrud
- L Bélanger
- L Bélanger
- L Bélanger
- L Dessborn
- L Fivez
- LH Goulder
- LJ Gormezano
- M Gilbert
- M Isaac-Renton
- M Klaassen
- M Owen
- Maarten J. J. E. Loonen
- MC Mack
- ME Rutledge
- MEA
- MH Jacobs
- MH Olson
- MJJE Loonen
- MR Eerden Van
- MR Sherfy
- N Beemster
- N Feige
- N Wiebe
- NK Dawe
- NS Sodhi
- O Bennike
- P Clausen
- P Meire
- P Sukhdev
- PY Daoust
- Q Jia
- R Ashwell
- R Best
- R Mateo
- R Riddington
- R Seppelt
- R Wal Van der
- R Wal Van der
- R Wal Van der
- RA Jensen
- Ralph Buij
- RB Howarth
- RC Ydenberg
- RF Rockwell
- RM Jonker
- RS Groot De
- RW Ruess
- S Abdul Jalil
- S Hahn
- S Sjögersten
- S Sjögersten
- SA Montzka
- SC Farber
- SC Grado
- SJ McNaughton
- SJ McNaughton
- SM Cargill
- SM Cargill
- SR McWilliams
- T Shimada
- TC Nichols
- TCP Melman
- TD Williams
- TH Haileselasie
- Theodorus C. P. Melman
- TJ Gorham
- TK Graczyk
- TM Radtke
- VL Cochran
- Z Hubálek
- ÅØ Pedersen
- ÇH Şekercioğlu
- ÇH Şekercioğlu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Schmelzgleichgewichte
- Author
- A Angeletti
- A Antropoff von
- A Ballenca
- A Bellanca
- A Benrath
- A Benrath
- A Bogojawlenski
- A Bramley
- A Burdese
- A Chrétien
- A Dessart
- A Ferrari
- A Ferrari
- A Ferrari
- A Ferrari
- A Ferrari
- A Ferrari
- A Ferrari
- A Ferrari
- A Fredga
- A Fredga
- A Fredga
- A Fredga
- A Fredga
- A Fredga
- A Kakatsuchi
- A Kofier
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kofler
- A Kruis
- A Lehrman
- A Lehrman
- A Lüttringhaus
- A Lüttringhaus
- A Miolati
- A Müller
- A Prichotko
- A Prins
- A Regenbogen
- A Rosenheim
- A Saposchnikow
- A Smith
- A Thiel
- A Windaus
- A Wroczynski
- AA Bombelli
- AA Botschwar
- AA Kusmenko
- AB Mcintosh
- AC Kock de
- AE Bailey
- AF Hollemann
- AF Hollemann
- AF Kapusstinski
- AFO Germann
- AG Amelin
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Bergman
- AG Metcalfe
- AHW Aten
- AHW Aten
- AI Iwanow
- AL Dresser
- AM Damiens
- AM Damiens
- AN Campbell
- AN Morosow
- AP Palkin
- AP Palkin
- AP Palkin
- AP Palkin
- AP Rollet
- AP Rollet
- AP Rollet
- AP Rosstkowski
- AP Rosstkowski
- AP Rosstkowski
- AP Rosstkowski
- AP Rosstkowski
- AP Vowkogon
- AS Bereshnoi
- AS Broun
- AS Mikulinski
- AT Nishnik
- B Cochet-Muchy
- B Kuriloff
- B Neumann
- B Rubin
- B Tavasci
- BG Eggink
- BJ Karsten
- BN Drosdow
- BN Menschutkin
- BN Menschutkin
- BN Menschutkin
- BN Menschutkin
- Boks
- C Agte
- C Agte
- C Eyk van
- C Karan
- C Kroger
- C Mazzetti
- C Mazzetti
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Sandonnini
- C Shinomiya
- C Shinomiya
- C Wyler
- CA Kraus
- CH Mathewson
- CM Fontana
- CR Roy
- CR Wohrmann
- D Cubicciotti
- D Cubicciotti
- D Howard
- D Mcintosh
- D Meneghini
- DE Tsakalotos
- DJ Hissink
- DR Martin
- DR Martin
- DS Lesnych
- DS Lesnych
- DS Lesnych
- E Baud
- E Bauer
- E Beck
- E Beckmann
- E Berl
- E Crepaz
- E Flach
- E Groschuff
- E Groschuff
- E Hertel
- E Hertel
- E Hertel
- E Hertel
- E Hertel
- E Hope
- E Ingerson
- E Janecke
- E Janecke
- E Janecke
- E Janecke
- E Junker
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Jänecke
- E Korreng
- E Korreng
- E Mameli
- E Mameli
- E Martin
- E Paterno
- E Quercigh
- E Quercigh
- E Quercigh
- E Rudolfi
- E Rudolfi
- E Thilo
- E Thilo
- E Vanstone
- E Vanstone
- E Vanstone
- E Vitale
- E Vortisch
- EA Hill
- EA O’Connor
- EA O’Connor
- ED Eastman
- ED Eastman
- EG Bunzel
- EH Büchner
- EJ Kohlmeyer
- EJ Kohlmeyer
- EL Skau
- EM Levin
- EM Levin
- EM Tschernomordik
- EP Perman
- EP Perman
- EP Perman
- EP Perman
- EP Perman
- ET Carlson
- ET Turkdogan
- EW Washburn
- EW Washburn
- F Adamanis
- F Adamanis
- F Eisenlohr
- F Garelli
- F Hoermann
- F Hofmann
- F Ishikawa
- F Körber
- F Matthes
- F Olivari
- F Olivari
- F Olivari
- F Seel
- F Wallerant
- F Wassenin
- F Zambonini
- FEE Germann
- FH Smyth
- FI Wassenin
- FM Jaeger
- FM Jaeger
- FM Jaeger
- FM Jaeger
- FM Jager
- FP Hall
- FS Fawcet
- G Baume
- G Baume
- G Baume
- G Baume
- G Baume
- G Bruni
- G Bruni
- G Bruni
- G Calcagni
- G Calcagni
- G Calcagni
- G Calcagni
- G Calcagni
- G Calcagni
- G Calcagni
- G Calcagni
- G Canneri
- G Canneri
- G Canneri
- G Courtois
- G Fuseya
- G Fuseya
- G Grube
- G Grube
- G Grube
- G Herrmann
- G Hevesy von
- G Kellner
- G Parijs
- G Pellini
- G Pellini
- G Petersen
- G Scarpa
- G Scarpa
- G Scarpa
- G Scarpa
- G Scarpa
- G Scarpa
- G Tamman
- G Tamman
- G Tammann
- G Tammann
- G Trömel
- G Tubandt
- G Viseur
- G Wagner
- G Wolf
- GA Buchalowa
- GA Buchalowa
- GA Buchalowa
- GA Buchalowa
- GA Buchalowa
- GA Buchalowa
- GA Geach
- GA Sachartschenko
- GB Bernardis
- GD Rieck
- GF Shilenko
- GG Diogenow
- GG Diogenow
- GG Monselise
- GG Monselise
- GG Monselise
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- GG Urasow
- GG Urasow
- GH Cady
- GH Leopold
- GJ Nagornyj
- GL Matheson
- GM Unshakow
- GP Lutschinsky
- GP Lutschinsky
- GP Lutschinsky
- GP Lutschinsky
- GP Lutschinsky
- GP Rutledge
- GW Knight
- GW Morey
- GW Morey
- GW Morey
- H Brand
- H Brand
- H Chatelier Le
- H Eckermann von
- H Erlenmeyer
- H Erlenmeyer
- H Forestier
- H Gemsky
- H Giran
- H Huber
- H Insley
- H Keitel
- H Lautz
- H Lettré
- H Lettré
- H Lettré
- H Pélabon
- H Pélabon
- H Quehenberger
- H Rassow
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Rheinboldt
- H Schlegel
- H Schäfer
- H Schäfer
- H Schäfer
- H Sigurdson
- H Veith
- H Wartenberg von
- H Wartenberg von
- H Wartenberg von
- H Wartenberg von
- H Wartenberg von
- H Wartenberg von
- H Wartenberg von
- H Wentrup
- H Winter
- Haan
- Hayward
- HE Boeke
- HE Boeke
- HF Johnstone
- HF McMurdie
- HG Grimm
- HG Sowman
- HH Lee
- HH Lee
- HH Lee
- HH Lee
- HH Sisler
- HH Sisler
- HH Sisler
- HH Sisler
- HL Fink
- HM Davis
- HM Dawson
- HM Haendler
- HR Carveth
- HS Booth
- HS Booth
- HS Klooster van
- HS Klooster van
- HS Klooster van
- HS Klooster van
- HS Klooster van
- HS Roberts
- HT Ringdal
- I Delgery
- I Kablukow
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- WP Blidin
- WP Bradley
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- WPA Jonker
- WR Bousfield
- WR Eubank
- WT Wilde
- Y Hayakawa
- ZZ Schoen
- ZZ Takahashi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2013
- Field of study
Safety of hospital discharge before return of bowel function after elective colorectal surgery
- Author
- Aabling R.R.
- Aba M.
- Abad-Motos A.
- Abbasguliyev H.
- Abdelgalil R.
- Abdelhameed F.
- Abdulrahman N.
- Abdulrahman S.M.F.
- Abdulrahman Z.
- Abelevich A.
- Abelló D.
- Ablett A.D.
- Ablett A.D.
- Abrisqueta J.
- Acherman Y.I.Z.
- Adam A.H.
- Adamo V.
- Adams S.I.B.
- Adel A.
- Adeleye O.
- Adeusi L.
- Adra M.
- Aftab R.
- Agarwal A.
- Agarwal T.
- Agca M.H.
- Aggiusti A.
- Agresta F.
- Aguilar JF Noguera
- Aguilar-Martínez M.M.
- Aguilera M.L.
- Aguilera M.L.
- Aguilera M.L.
- Ahmad H.
- Ahmed A.
- Ahmed H.
- Ahmed K.
- Ahmed M.
- Ahmed M.
- Ahmed S.
- Ahmed W.U.R.
- Ahmeidat A.
- Ahsan S.D.
- Ainsworth P.
- Aitken G.
- Ajmera A.
- Akay F.E.
- Akbani U.
- Akbar Z.
- Akbari K.
- Akbari K.
- Akhbari M.
- Akin F.A.
- Akisheva A.
- Akram B.
- Aksoy A.B.
- Aksoy B.
- Aksoy H.
- Aktas M.K.
- Aktas M.K.
- Aktas M.K.
- Aktuna C.
- Akyol C.
- Al Zawawi S.
- Al-Azzawi A.
- Al-hadithi A.
- Al-Salihi A.
- Al-Saraff Z.
- Al-Sarraf Z.
- Alame Y.J.
- Alasmar M.
- Alawattegama H.
- Albayrak D.
- Alberca-Paramo A.
- Albert V.
- Alconchel F.
- Aldarragi A.
- Alexander J.
- Alhalabi O.
- Ali A.
- Ali A.
- Ali Y.
- Ali Z.
- Alim Y.E.
- Aliosin O.
- Aljohmani L.
- Allen B.
- Allen M.
- Alm J.
- Almeida Almeida
- Almeida J.
- Almeida P.
- Almeida S.
- Alonso B Campillo
- Alonso E Diego
- Alonso-Poza A.
- Alqethami H.J.
- Alsaif A.
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- Altiner S.
- Altintas E.
- Altomare D.F.
- Alvarez E.
- Alvarez M Merayo
- Alves D.
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- Žebrák R.
- Publication venue
- 'Wiley'
- Publication date
- 01/04/2020
- Field of study
© 2020 BJS Society Ltd Published by John Wiley & Sons LtdBackground: Ileus is common after colorectal surgery and is associated with an increased risk of postoperative complications. Identifying features of normal bowel recovery and the appropriateness for hospital discharge is challenging. This study explored the safety of hospital discharge before the return of bowel function. Methods: A prospective, multicentre cohort study was undertaken across an international collaborative network. Adult patients undergoing elective colorectal resection between January and April 2018 were included. The main outcome of interest was readmission to hospital within 30 days of surgery. The impact of discharge timing according to the return of bowel function was explored using multivariable regression analysis. Other outcomes were postoperative complications within 30 days of surgery, measured using the Clavien–Dindo classification system. Results: A total of 3288 patients were included in the analysis, of whom 301 (9·2 per cent) were discharged before the return of bowel function. The median duration of hospital stay for patients discharged before and after return of bowel function was 5 (i.q.r. 4–7) and 7 (6–8) days respectively (P < 0·001). There were no significant differences in rates of readmission between these groups (6·6 versus 8·0 per cent; P = 0·499), and this remained the case after multivariable adjustment for baseline differences (odds ratio 0·90, 95 per cent c.i. 0·55 to 1·46; P = 0·659). Rates of postoperative complications were also similar in those discharged before versus after return of bowel function (minor: 34·7 versus 39·5 per cent; major 3·3 versus 3·4 per cent; P = 0·110). Conclusion: Discharge before return of bowel function after elective colorectal surgery appears to be safe in appropriately selected patients