446 research outputs found
There is no relationship between Paraoxonase serum level activity in women with endometriosis and the stage of the disease: an observational study
- Author
- A Agarwal
- A Agarwal
- A Augoulea
- A Melo
- A Mohamed
- A Ozenoglu
- Aline Amaro dos Santos
- AZ Andrade
- AZ De Andrade
- B Mackness
- BE Seeber
- Bianca Bianco
- BN La Du
- Caio Parente Barbosa
- Carla Peluso
- CP Barbosa
- CP Barbosa
- CP Barbosa
- Denise Maria Christofolini
- DI Draganov
- E Sarandöl
- F Brites
- Felipe Barca Bragatto
- Fernanda Abani Mafra
- FF Verit
- G Ferretti
- G Ferretti
- J Camps
- J Camps
- J Marsillach
- JM Cabrera
- JR Rebelatto
- K Biggadike
- K Davis
- M Aviram
- M Dirican
- M Gur
- M Gur
- M Rosenblat
- M She
- M Szczepanska
- M Tomás
- O Khersonsky
- O Rozemberg
- O Rozenberg
- R James
- RN Taylor
- S Deakin
- S Gupta
- S Gupta
- S Gupta
- S Pretta
- Sonia Hix
- Viviane Cavalcanti
- Y Ikeda
- Z Alpay
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Characterization of SpPol4, a unique X-family DNA polymerase in Schizosaccharomyces pombe
- Author
- A. J. Picher
- A. Sanchez
- Arcangioli
- Arcangioli
- Astatke
- Bebenek
- Bernad
- Bertocci
- Bonnin
- Bork
- Callebaut
- Dalgaard
- Delarue
- Dianov
- Dianov
- Dominguez
- Fan
- Ferreira
- G. Terrados
- Gaiser
- Garcia-Diaz
- Garc a-D az
- Gilfillan
- J. F. Ruiz
- Joyce
- Karathanasis
- Kaykov
- Klar
- Komori
- Kunkel
- Kunkel
- L. Blanco
- Lindahl
- Ma
- Maciejewski
- Mahajan
- Matsumoto
- McCormick
- Meuth
- Nicholl
- Nick McElhinny
- Nick McElhinny
- Nilsen
- P. Andrade
- Pelletier
- Prasad
- Prasad
- Prasad
- Prasad
- R. Juarez
- Ruiz
- Ruiz
- Ruiz
- S. Gonzalez-Barrera
- Sawaya
- Showalter
- Singhal
- Srivastava
- Takata
- Wach
- Wilson
- Zhang
- Publication venue
- Oxford University Press
- Publication date
- 01/01/2005
- Field of study
As predicted by the amino acid sequence, the purified protein coded by Schizosaccharomyces pombe SPAC2F7.06c is a DNA polymerase (SpPol4) whose biochemical properties resemble those of other X family (PolX) members. Thus, this new PolX is template-dependent, polymerizes in a distributive manner, lacks a detectable 3′→5′ proofreading activity and its preferred substrates are small gaps with a 5′-phosphate group. Similarly to Polμ, SpPol4 can incorporate a ribonucleotide (rNTP) into a primer DNA. However, it is not responsible for the 1–2 rNTPs proposed to be present at the mating-type locus and those necessary for mating-type switching. Unlike Polμ, SpPol4 lacks terminal deoxynucleotidyltransferase activity and realigns the primer terminus to alternative template bases only under certain sequence contexts and, therefore, it is less error-prone than Polμ. Nonetheless, the biochemical properties of this gap-filling DNA polymerase are suitable for a possible role of SpPol4 in non-homologous end-joining. Unexpectedly based on sequence analysis, SpPol4 has deoxyribose phosphate lyase activity like Polβ and Polλ, and unlike Polμ, suggesting also a role of this enzyme in base excision repair. Therefore, SpPol4 is a unique enzyme whose enzymatic properties are hybrid of those described for mammalian Polβ, Polλ and Polμ
Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- AbouZeid OS
- Abraham NL
- Abramowicz H
- Abreu H
- Abud AA
- Abulaiti Y
- Acharya BS
- Achkar B
- Adachi S
- Adam L
- Adamczyk L
- Adamek L
- Adelman J
- Adersberger M
- Adiguzel A
- Adorni S
- Adye T
- Affolder AA
- Afik Y
- Agapopoulou C
- Agaras MN
- Aggarwal A
- Agheorghiesei C
- Aguilar-Saavedra JA
- Ahmadov F
- Ahmed WS
- Ai X
- Aielli G
- Akatsuka S
- Akesson TPA
- Akilli E
- Akimov A
- Al Khoury K
- Alberghi GL
- Albert J
- Alderweireldt S
- Aleksa M
- Aleksandrov IN
- Alexa C
- Alexopoulos T
- Alfonsi A
- Alfonsi F
- Alhroob M
- Ali B
- Aliev M
- Alimonti G
- Allaire C
- Allbrooke BMM
- Allen BW
- Allport PP
- Aloisio A
- Alonso F
- Alpigiani C
- Alshehri AA
- Alvarez Estevez M
- Alviggi MG
- Amaral Coutinho Y
- Ambler A
- Ambroz L
- Amelung C
- Amidei D
- Amor Dos Santos SP
- Amoroso S
- Amrouche CS
- An F
- Anastopoulos C
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- Andeen T
- Anders CF
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- Andreazza A
- Andrei V
- Anelli CR
- Angelidakis S
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- Anisenkov A
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- Antel C
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- Araque JP
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- Asimakopoulou EM
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- Boeriu OEV
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- Tudorache A
- Tudorache V
- Tulbure TT
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- Whiteson D
- Whitmore BW
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- Wiel C
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- Zaazoua M
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- Zaripovas DR
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- Zemaityte G
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- Zhemchugov A
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- Zhu H
- Zhu HL
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- Zhuang X
- Zhukov K
- Zhulanov V
- Zieminska D
- Zimine N
- Zimmermann S
- Zinonos Z
- Ziolkowski M
- Zivkovic L
- Zobernig G
- Zoccoli A
- Zoch K
- Zorbas TG
- Zou R
- Zu Theenhausen HM
- Zwalinski L
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente
Two years of school-based intervention program could improve the physical fitness among Ecuadorian adolescents at health risk: subgroups analysis from a cluster-randomized trial
- Author
- A Ochoa-Aviles
- A Rauner
- AE Mark
- AM Ochoa Avilés
- Angélica Ochoa-Avilés
- AZ Khambalia
- B Deforche
- B Metcalf
- C Adam
- Carl Lachat
- D Thivel
- E D’Hondt
- EA Boiarskaia
- FB Ortega
- FB Ortega
- Greet Cardon
- I Janssen
- I Niederer
- JA Casajus
- JC Eisenmann
- JJ Smith
- Johana Ortiz
- John Van Camp
- K Van Royen
- KL Smith
- KT Magnusson
- LK Bartholomew
- M Dobbins
- M Dobbins
- M Juonala
- MD Tsiros
- MR Rhea
- O Hellevik
- P Bovet
- P Lefevre
- Patricia Ramirez
- Patrick Kolsteren
- R Jago
- R Puhl
- R Verstraeten
- R Verstraeten
- RJ Hayes
- Roosmarijn Verstraeten
- S Andrade
- S Andrade
- S Kriemler
- SF Assmann
- Silvana Donoso
- Susana Andrade
- TJ Cole
- U Korsten-Reck
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Evolução da aptidão física e capacidade funcional de mulheres ativas acima de 50 anos de idade de acordo com a idade cronológica, na cidade de Santos
- Author
- Andrade EL
- Berard A
- Berg WP
- Danneskoild-Samsoe B
- Era P
- Frontera WR
- Imamura K
- Ivan da Cruz Piçarro
- Jette AM
- Jette AM
- José Carlos Lopes Penha
- LaCroix AZ
- Larsson L
- Lexell J
- Matsudo SM
- Matsudo SM
- Matsudo SM
- Miotto JM
- Murray MP
- Payne AM
- Pollock ML
- Raso V
- Rikli RE
- Rikli RE
- Rikli RE
- Seeman TE
- Spirduso WW
- Turibio Leite de Barros Neto
- Tzankoff SP
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Anemia em crianças e mulheres indígenas no Brasil: revisão sistemática
- Author
- Barreto CTG
- Baruzzi RG
- Carvalho-Costa FA
- Coimbra Júnior CEA
- Coimbra Júnior CEA
- Célia Regina Moutinho de Miranda Chaves
- Fávaro TR
- Gugelmin SA
- Horta BL
- Juliana Souza Andrade Lício
- Khambalia AZ
- Koury Filho HC
- Leal LP
- Leite MS
- Leite MS
- Mondini L
- Mondini L
- Morais MB
- Orellana JDY
- Orellana JDY
- Pereira AO
- Pereira JF
- Saloojee H
- Serafim MG
- Souza JAM
- Thatiana Regina Fávaro
- Vieira RCS
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Exploring new physics frontiers through numerical relativity
- Author
- A Adam
- A Adams
- A Adams
- A Arvanitaki
- A Arvanitaki
- A Ashtekar
- A Ashtekar
- A Ashtekar
- A Ashtekar
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- A Buchel
- A Buchel
- A Buchel
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- A Buonanno
- A Buonanno
- A Duenas-Vidal
- A Einstein
- A Einstein
- A Einstein
- A Einstein
- A Einstein
- A Einstein
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- A Ishibashi
- A Le Tiec
- A Le Tiec
- A Lichnerowicz
- A Nagar
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- AE Fischer
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- AJS Hamilton
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- AR Moser
- AS Eddington
- AZ Petrov
- B Bertotti
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- B Carter
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- B Kleihaus
- B Kleihaus
- B Kleihaus
- B Kleihaus
- B Kleihaus
- B Kleihaus
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- Y Brihaye
- Y Bruhat
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- YB Zel’dovich
- YM Cho
- Z Andrade
- Z Cao
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- ÓJC Dias
- ÓJC Dias
- ÓJC Dias
- ÓJC Dias
- ÓJC Dias
- ÓJC Dias
- ÓJC Dias
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
The demand to obtain answers to highly complex problems within strong-field gravity has been met with significant progress in the numerical solution of Einstein's equations - along with some spectacular results - in various setups. We review techniques for solving Einstein's equations in generic spacetimes, focusing on fully nonlinear evolutions but also on how to benchmark those results with perturbative approaches. The results address problems in high-energy physics, holography, mathematical physics, fundamental physics, astrophysics and cosmology
A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)
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- Gil EM
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- Gimillo MR
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- Gioia A
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- Golovnya E
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- Gomez SE
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- Gonzalez JA
- Gonzalez V
- Gonzalez-Engroba R
- González AS
- González BS
- González JC
- González-Jiménez AI
- Gonçalves B
- Goodwin S
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- Gordon M
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- Gouveia J
- Gracia RM
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- Granada RM
- Granados PR
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- Grangé S
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- Grassi L
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- Green RS
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- Grossestreuer A
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- Guidet B
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- Heras G
- Hernandis V
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- Herrera AN
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- Heunks LM
- Hewitt H
- Heyne T
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- Hidalgo C
- Hikasa Y
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- Himpe D
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- Hirayama T
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- Horvat A
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- Hravnak M
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- Huber W
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- Hutchison R
- Hwang GS
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- Ibsen M
- Idei M
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- Jang BH
- Janotka M
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- Jansen D
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- Japan Septic Disseminated Intravascular Coagulation (JSEPTIC DIC) study group
- Jardim JJ
- Jardim M
- Jareño A
- Javadpour S
- Jayasinghe S
- Jean-Baptiste S
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- Jensen AE
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- Jiménez GJ
- Jo YH
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- Jonas M
- Jonas M
- Jonas M
- Jones C
- Joshi R
- Joshi V
- Jovaisa T
- JSEPTIC (Japanese Society of Education for Physicians and Trainees in Intensive Care) Clinical Trial Group
- Juan WC
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- Kaczirek K
- Kaese S
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- Kalenka A
- Kalfon P
- Kamali E
- Kaminsky GE
- Kaneko M
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- Kang PL
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- Kara A
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- Karanjia N
- Karbing DS
- Karsten E
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- Katabami K
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- Katira BH
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- Kawano S
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- Kayambu G
- Kazutoshi F
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- Khaliq W
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- Kirca H
- Kirman M
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- Kleinpell R
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- Kobayashi A
- Koco E
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- Komuro T
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- Kongpolprom N
- Kooner G
- Kostalas M
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- Kristof J
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- Kurtz P
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- Lacerda P
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- Okayama Research Investigation Organizing Network (ORION)investigators
- Olaechea P
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- WIND study group
- WIND study group
- WIND study group
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- Yoshitake E
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- Álvarez JT
- Álvarez-Lerma F
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2016
- Field of study
Meeting abstrac
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
- Author
- Abduljalal M
- Abdullaev AA
- Abdullaeva GJ
- Abifadel M
- Acevedo Rivera KJ
- Adamidis P-S
- Aguilar HG
- Aguilar-Salinas CA
- Al-Khateeb A
- Al-Rasadi K
- Al-Sarraf A
- Al-Sayed N
- Alammari D
- Alareedh M
- Alcala HG
- Alfil S
- Alhabib K
- Alieva RB
- Alkhnifsawi M
- Almahmeed W
- Almeida AF
- Alnouri F
- Alonso R
- Alrowaily NL
- Alsahari A
- Alvarado RM
- Alvarez JA
- Alves AC
- Amezcua Martinez JC
- Anagnostis P
- Anastasiou G
- Antonio-Villa NE
- Antza C
- Aouchiche K
- Aparicio BPN
- Arca M
- Arjona Villica~na RD
- Arriaga Cazares HE
- Ashavaid TF
- Ates S
- Attilakos A
- Averna M
- Ayoub C
- Balligand J-L
- Banach M
- Barrera Bustillo MDLR
- Bartkova I
- Batool H
- Battelino T
- Baumgartner-Kaut M
- Bañares V
- Bendary A
- Benn M
- Benso A
- Berteotti M
- Bertolini S
- Bielecka-Dąbrowa A
- Bilhoto C
- Binder C
- Biolo GB
- Bizjan BJ
- Blom D
- Boccara F
- Bogsrud MP
- Bonanni L
- Borghi C
- Borowiec-Wolna J
- Bossi AC
- Bourbon M
- Branchi A
- Brandts JM
- Bruckert E
- Brunham L
- Buganova I
- Buonuomo PS
- Buresova K
- Béliard S
- Calabrò P
- Calandra S
- Capra ME
- Cariou B
- Carrera RA
- Carrié A
- Casula M
- Catapano AL
- Cavallaro R
- Cefalù AB
- Cepova J
- Chacon RC
- Charrières S
- Chlebus I
- Chlebus K
- Chmara M
- Chua Y-A
- Cipollone F
- Citroni N
- Coelho R
- Cohen H
- Cooremans ER
- Corral P
- Correia S
- Cottin Y
- Cruz D
- Cuevas A
- Dalal JJ
- Davletov K
- De Andrés R
- De Gier C
- De los Rios Ibarra MO
- Debeljak M
- Debreova M
- Del Ben M
- Deltas C
- Demeure F
- Descamps OS
- Dharmayat KI
- Di Filippo M
- Dieplinger H
- Do D-L
- Dominguez GJ
- Doumas M
- Dourmap C
- Drogari E
- Durlach V
- Durst R
- Dvorakova J
- Dwiputra B
- Díaz-Díaz JL
- Elbahry A
- Elias-Lopez D
- Encinas BR
- Ezhov MV
- Fabryova L
- Farnier M
- Federici M
- Ferreira P
- Ferreira-Hermosillo A
- Ferri C
- Ferrieres D
- Ferrières J
- Figueroa Andrade MH
- Filippatos T
- Fiorenza AM
- Fortunato G
- Fozilov KG
- Freiberger T
- Fuentes-Jiménez F
- Futema M
- Gach A
- Gaita D
- Galema-Boers A
- Galimberti F
- Gallo A
- Gama G
- Ganokroj P
- Garcia de Leon LE
- Garcia AH
- Garcia AYR
- Garcia P
- Gardu~no Garcia JJ
- Garnica Cuellar JC
- Garoufi A
- Gaudet D
- Gazzotti M
- Genest J
- Georgiou A
- Ghaleb Y
- Gilis-Malinowska N
- Giorgino F
- Gomez Cruz JR
- Gomez Herrera LG
- Gonova K
- Gonzalez Gonzalez JR
- Gonzalez PAC
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- Greber-Platzer S
- Groselj U
- Guardamagna O
- Guerra A
- Guzman BG
- Hankard R
- Harada-Shiba M
- Harangi M
- Hegele RA
- Hellman M
- Hennig M
- Herrera UJ
- Holguin Almada JR
- Holven KB
- Hosseini S
- Hovingh GK
- Humphries SE
- Huong Truong T
- Hyanek J
- Höllerl F
- Iacovides P
- Iannuzzo G
- Innerhofer R
- Ioannou A
- Iughetti L
- Jambart S
- Jamialahmadi T
- Jesina P
- Jóźwiak J
- Kadir SHSA
- Kadurova M
- Kan LE
- Karall D
- Kareem H
- Kasim NAM
- Kayikcioglu M
- Khan SA
- Khoshimov SU
- Khovidhunkit W
- Khudary AA
- Kim N-T
- Kiouri E
- Klabnik A
- Kleinschmidt M
- Kolovou G
- Kolovou V
- Konopka A
- Kostis A
- Kotsis V
- Koumaras C
- Koutagiar I
- Kovac J
- Kozárová M
- Lalic K
- Lalic NM
- Lamari F
- Lambadiari V
- Latif AZA
- Latkovskis G
- Laufs U
- Le H-A
- Le T-T
- Leitersdorf E
- Lemale J
- Lewek J
- Lia S
- Liamis G
- Liberopoulos E
- Lima-Martinez MM
- Lin J
- Lischka J
- Lobarinhas G
- Lopes A
- Lopez HA
- Ludvik B
- Lupi A
- Lyons ARM
- Macias JJC
- Maher V
- Mahfouz L
- Malik M
- Maly J
- Mandraffino G
- Marais AD
- Maroni L
- Martagon AJ
- Masuda D
- Mata P
- Matos LD
- Mawlawi HA
- McCrindle B
- Medeiros AM
- Medrano Rodriguez AB
- Mehta R
- Mendez Valencia CV
- Mertens A
- Michalska-Grzonkowska A
- Milionis H
- Miltiadous G
- Minicocci I
- Mirrakhimov E
- Miserez AR
- Miserez EB
- Mitchenko O
- Mlinaric M
- Moffa S
- Molk N
- Mollaki V
- Mombelli G
- Morales Oyervides JC
- Moulin P
- Moura MD
- Mourre F
- Mouzarou A
- Muntoni S
- Muñiz-Grijalvo O
- Myśliwiec M
- März W
- Mäser M
- Nascimbeni F
- Nawawi H
- Nazli SA
- Nguyen M-N-T
- Nikolov F
- Nizamov UI
- Nociar J
- Nor NSM
- Nordestgaard BG
- Novodvorsky P
- Olmastroni E
- Ortega AF
- Osorio MLR
- Padilla Padilla FG
- Paillard F
- Pais P
- Pajkowski M
- Palma I
- Panayiotou AG
- Paragh G
- Parati G
- Parczewska A
- Passaro A
- Pecchioli V
- Pederiva C
- Pellegatta F
- Peng FK
- Peretti N
- Perez Vazquez DI
- Perica D
- Petakov A
- Petrov I
- Petrulioniene Z
- Pipek M
- Pipolo A
- Pirro M
- Pisciotta L
- Pistkova E
- Podkrajsek KT
- Pojskic B
- Polychronopoulos G
- Ponde CK
- Popovic L
- Portano JDM
- Portilla NC
- Postadzhiyan A
- Potočňáková L
- Pradignac A
- Prado RM
- Proyias P
- Pujia A
- Raal F
- Rabès J-P
- Rajkovic N
- Rallidis L
- Ramaswami U
- Ramirez GAG
- Rana MA
- Ranai NM
- Raslova K
- Rasulic I
- Ray KK
- Razman AZ
- Reda A
- Reddy LL
- Reiner Ž
- Repetti E
- Retana GG
- Reyes Rodriguez EA
- Reyes X
- Reynaud R
- Rhadi SH
- Ribeiro R
- Rinaldi E
- Rizos CV
- Rodriguez EM
- Roeters van Lennep J
- Romanowska-Kocejko M
- Ruel I
- Sadiq F
- Sadoh W
- Sadykova D
- Sahebkar A
- Salgado JM
- Sanin V
- Santos R
- Sarzani R
- Saucedo JR
- Sauque-Reyna L
- Sawhney JPS
- Sbrana F
- Schiele F
- Schmieder R
- Scholl-Bürgi S
- Schreier L
- Schunkert H
- Schurr D
- Scicali R
- Sfikas G
- Shaghee F
- Shah S
- Shah SAV
- Shek AB
- Shipton JL
- Shpitzen S
- Sibaja CM
- Sikonja J
- Silva F
- Simental Mendia LE
- Simoneau I
- Simões F
- Singh S
- Skalidis E
- Skoumas I
- Slastnikova E
- Sobrevilla FL
- Sokal E
- Soran H
- Spenerova M
- Stabouli S
- Starostecka E
- Stephenne X
- Stevens CAT
- Stroes E
- Stróżyk A
- Stylianou A
- Su T-C
- Subramaniam T
- Sultan A
- Suppressa P
- Susekov A
- Sustar U
- Sykora J
- Symeonides P
- S|ulakova A
- Tamayo MT
- Tarugi P
- Tavares M
- Thajer A
- Thushara Matthias A
- Tichy L
- Tilney M
- Tisheva S
- Tomlinson B
- Toplak H
- Torres MTM
- Toukalkova L
- Tounian P
- Trenti C
- Trogkanis E
- Tsaroumi A
- Tselepis AD
- Tybjærg-Hansen A
- Tziomalos K
- Tzvetkov I
- Urbanova Z
- Valdez Talavera LA
- Valero R
- Vallejo-Vaz AJ
- Varga T
- Vargas GC
- Vargas-Vazquez A
- Vasanwala RF
- Venkatesh SA
- Vera Arroyo LE
- Verges B
- Verma IC
- Viigimaa M
- Virtuoso MJ
- Vohnout B
- Vrablik M
- Vázquez Cárdenas A
- Wang L
- Wasąg B
- Watts GF
- Weigman A
- Werba JP
- Wojtecka A
- Yamashita S
- Yelnik C
- Yotov Y
- Zacharis E
- Zakirova DV
- Zambon A
- Zazueta AR
- Zdrojewski T
- Zenti MG
- Zepeda Carrillo EA
- Zubieta VM
- Šaligova J
- Żarczyńska-Buchowiecka M
- Publication venue
- Elsevier
- Publication date
- 29/08/2023
- Field of study
Background Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8–13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05–6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50–75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life. Funding Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron
Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study
- Author
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- Abatli SJ
- Abbas W
- Abbo O
- Abd Elmenam M
- Abd Razak RB
- Abdelbaqi R
- Abdelhady DS
- Abdelhafez MOM
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- Abib SDCV
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- Publication venue
- ELSEVIER SCIENCE INC
- Publication date
- 24/07/2021
- Field of study
Background: Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. // Methods: We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung's disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. // Findings: We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung's disease) from 264 hospitals (89 in high-income countries, 166 in middle-income countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in low-income countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. // Interpretation: Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between low-income, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030
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