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Abnormal cognitive process

MedGen UID:
1052794
•Concept ID:
CN378248
•
Finding
HPO: HP:0025792

Professional guidelines

PubMed

AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article

Recent clinical studies

Etiology

Ocular coloboma-a comprehensive review for the clinician.
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.
Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, Daly K, Doutré S, Gibson L, Giles ML, Greenlee J, Hamilton ST, Harrison GJ, Hui L, Jones CA, Palasanthiran P, Schleiss MR, Shand AW, van Zuylen WJ
Lancet Infect Dis 2017 Jun;17(6):e177-e188. Epub 2017 Mar 11 doi: 10.1016/S1473-3099(17)30143-3. PMID: 28291720
The genetics of cognitive epigenetics.
Kleefstra T, Schenck A, Kramer JM, van Bokhoven H
Neuropharmacology 2014 May;80:83-94. Epub 2014 Jan 13 doi: 10.1016/j.neuropharm.2013.12.025. PMID: 24434855
Klinefelter's syndrome and psychoneurologic function.
Verri A, Cremante A, Clerici F, Destefani V, Radicioni A
Mol Hum Reprod 2010 Jun;16(6):425-33. Epub 2010 Mar 2 doi: 10.1093/molehr/gaq018. PMID: 20197378

Diagnosis

Auricular reconstruction.
Cubitt JJ, Chang LY, Liang D, Vandervord J, Marucci DD
J Paediatr Child Health 2019 May;55(5):512-517. Epub 2019 Mar 28 doi: 10.1111/jpc.14444. PMID: 30920067
Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy.
Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, Daly K, Doutré S, Gibson L, Giles ML, Greenlee J, Hamilton ST, Harrison GJ, Hui L, Jones CA, Palasanthiran P, Schleiss MR, Shand AW, van Zuylen WJ
Lancet Infect Dis 2017 Jun;17(6):e177-e188. Epub 2017 Mar 11 doi: 10.1016/S1473-3099(17)30143-3. PMID: 28291720
Ocular colobomata.
Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E
Surv Ophthalmol 2000 Nov-Dec;45(3):175-94. doi: 10.1016/s0039-6257(00)00151-x. PMID: 11094243
Cluttering.
Weiss DA
Folia Phoniatr (Basel) 1967;19(4):233-63. doi: 10.1159/000263150. PMID: 4867297

Therapy

Lecanemab Questions.
Nadeau SE
Neurology 2024 Apr 9;102(7):e209320. Epub 2024 Mar 14 doi: 10.1212/WNL.0000000000209320. PMID: 38484213
Red Blood Cell Transfusion: 2023 AABB International Guidelines.
Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Treatment of Nanophthalmos Cataracts: Surgery and Complications.
He MY, Feng JR, Zhang L
Semin Ophthalmol 2022 Oct-Nov;37(7-8):849-855. Epub 2022 Jul 20 doi: 10.1080/08820538.2022.2102929. PMID: 35856463
Effects of monoclonal antibodies against amyloid-β on clinical and biomarker outcomes and adverse event risks: A systematic review and meta-analysis of phase III RCTs in Alzheimer's disease.
Avgerinos KI, Ferrucci L, Kapogiannis D
Ageing Res Rev 2021 Jul;68:101339. Epub 2021 Apr 5 doi: 10.1016/j.arr.2021.101339. PMID: 33831607Free PMC Article
National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: I. The 2014 Diagnosis and Staging Working Group report.
Jagasia MH, Greinix HT, Arora M, Williams KM, Wolff D, Cowen EW, Palmer J, Weisdorf D, Treister NS, Cheng GS, Kerr H, Stratton P, Duarte RF, McDonald GB, Inamoto Y, Vigorito A, Arai S, Datiles MB, Jacobsohn D, Heller T, Kitko CL, Mitchell SA, Martin PJ, Shulman H, Wu RS, Cutler CS, Vogelsang GB, Lee SJ, Pavletic SZ, Flowers ME
Biol Blood Marrow Transplant 2015 Mar;21(3):389-401.e1. Epub 2014 Dec 18 doi: 10.1016/j.bbmt.2014.12.001. PMID: 25529383Free PMC Article

Prognosis

Cleft Lip and Palate.
Worley ML, Patel KG, Kilpatrick LA
Clin Perinatol 2018 Dec;45(4):661-678. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.006. PMID: 30396411
Selective Endothelial Removal for Peters Anomaly.
Soh YQ, Mehta JS
Cornea 2018 Mar;37(3):382-385. doi: 10.1097/ICO.0000000000001472. PMID: 29408830
Ethical language and decision-making for prenatally diagnosed lethal malformations.
Wilkinson D, de Crespigny L, Xafis V
Semin Fetal Neonatal Med 2014 Oct;19(5):306-11. Epub 2014 Sep 5 doi: 10.1016/j.siny.2014.08.007. PMID: 25200733Free PMC Article
Pollicization in congenital differences.
Foucher G, Medina J, Lorea P, Pivato G, Szabó Z
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):146-51. doi: 10.1055/s-2004-817902. PMID: 15162313
Autosomal recessive nanophthalmos.
Altintaş AK, Acar MA, Yalvaç IS, Koçak I, Nurözler A, Duman S
Acta Ophthalmol Scand 1997 Jun;75(3):325-8. doi: 10.1111/j.1600-0420.1997.tb00788.x. PMID: 9253989

Clinical prediction guides

International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):e383-e414. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.06.019. PMID: 34304896
Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional, and research purposes.
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, Khoury GE, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ
J Thorac Cardiovasc Surg 2021 Sep;162(3):781-797. Epub 2021 Jul 22 doi: 10.1016/j.jtcvs.2021.05.008. PMID: 34304894
Giant Papillary and Peripapillary Staphyloma.
Ghassemi F, Sheikhghomi S, Khalilipour E
JAMA Ophthalmol 2021 Feb 1;139(2):e204075. Epub 2021 Feb 17 doi: 10.1001/jamaophthalmol.2020.4075. PMID: 33595607
Fetal therapy: practical ethical considerations.
Ville Y
Prenat Diagn 2011 Jul;31(7):621-7. Epub 2011 Jun 10 doi: 10.1002/pd.2808. PMID: 21660998
Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles.
Thompson DN
Prenat Diagn 2009 Apr;29(4):412-9. doi: 10.1002/pd.2199. PMID: 19194999

Recent systematic reviews

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
Rationale for a Multi-Factorial Approach for the Reversal of Cognitive Decline in Alzheimer's Disease and MCI: A Review.
Rao RV, Subramaniam KG, Gregory J, Bredesen AL, Coward C, Okada S, Kelly L, Bredesen DE
Int J Mol Sci 2023 Jan 14;24(2) doi: 10.3390/ijms24021659. PMID: 36675177Free PMC Article
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Effects of monoclonal antibodies against amyloid-β on clinical and biomarker outcomes and adverse event risks: A systematic review and meta-analysis of phase III RCTs in Alzheimer's disease.
Avgerinos KI, Ferrucci L, Kapogiannis D
Ageing Res Rev 2021 Jul;68:101339. Epub 2021 Apr 5 doi: 10.1016/j.arr.2021.101339. PMID: 33831607Free PMC Article
Developing a New Definition and Assessing New Clinical Criteria for Septic Shock: For the Third International Consensus Definitions for Sepsis and Septic Shock (Sepsis-3).
Shankar-Hari M, Phillips GS, Levy ML, Seymour CW, Liu VX, Deutschman CS, Angus DC, Rubenfeld GD, Singer M; Sepsis Definitions Task Force
JAMA 2016 Feb 23;315(8):775-87. doi: 10.1001/jama.2016.0289. PMID: 26903336Free PMC Article

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