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Hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain

MedGen UID:
333610
•Concept ID:
C1840647
•
Disease or Syndrome
Synonym: HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN
 
Monarch Initiative: MONDO:0007717
OMIM®: 142309

Clinical features

From HPO
Increased hemoglobin oxygen affinity
MedGen UID:
867285
•Concept ID:
C4021647
•
Finding
An abnormal increase in the binding affinity of hemoglobin for oxygen.
See: Feature record | Search on this feature
Compensated hemolytic anemia
MedGen UID:
870825
•Concept ID:
C4025283
•
Disease or Syndrome
See: Feature record | Search on this feature

Professional guidelines

PubMed

Perioperative Management of Antithrombotic Therapy: An American College of Chest Physicians Clinical Practice Guideline.
Douketis JD, Spyropoulos AC, Murad MH, Arcelus JI, Dager WE, Dunn AS, Fargo RA, Levy JH, Samama CM, Shah SH, Sherwood MW, Tafur AJ, Tang LV, Moores LK
Chest 2022 Nov;162(5):e207-e243. Epub 2022 Aug 11 doi: 10.1016/j.chest.2022.07.025. PMID: 35964704
Sampling and Definitions of Placental Lesions: Amsterdam Placental Workshop Group Consensus Statement.
Khong TY, Mooney EE, Ariel I, Balmus NC, Boyd TK, Brundler MA, Derricott H, Evans MJ, Faye-Petersen OM, Gillan JE, Heazell AE, Heller DS, Jacques SM, Keating S, Kelehan P, Maes A, McKay EM, Morgan TK, Nikkels PG, Parks WT, Redline RW, Scheimberg I, Schoots MH, Sebire NJ, Timmer A, Turowski G, van der Voorn JP, van Lijnschoten I, Gordijn SJ
Arch Pathol Lab Med 2016 Jul;140(7):698-713. Epub 2016 May 25 doi: 10.5858/arpa.2015-0225-CC. PMID: 27223167
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee
Genet Med 2015 May;17(5):405-24. Epub 2015 Mar 5 doi: 10.1038/gim.2015.30. PMID: 25741868Free PMC Article

Recent clinical studies

Etiology

Mishel's uncertainty in illness theory: Informing nursing diagnoses and care planning.
Reinken DN, Reed SM
Int J Nurs Knowl 2023 Oct;34(4):316-324. Epub 2022 Nov 10 doi: 10.1111/2047-3095.12406. PMID: 36366808
Othering and Health Justice.
King NMP
Perspect Biol Med 2022;65(4):604-611. doi: 10.1353/pbm.2022.0051. PMID: 36468388
Modeling fast-and-frugal heuristics.
Wang Y, Luan S, Gigerenzer G
Psych J 2022 Aug;11(4):600-611. Epub 2022 Jul 1 doi: 10.1002/pchj.576. PMID: 35778774
Reasoning under uncertainty.
Aitken C, Mavridis D
Evid Based Ment Health 2019 Feb;22(1):44-48. Epub 2019 Jan 24 doi: 10.1136/ebmental-2018-300074. PMID: 30679196Free PMC Article
Parlez-vous VUS?
Cooper GM
Genome Res 2015 Oct;25(10):1423-6. doi: 10.1101/gr.190116.115. PMID: 26430151Free PMC Article

Diagnosis

A new clinical classification of acute myocardial infarction.
Lindahl B, Mills NL
Nat Med 2023 Sep;29(9):2200-2205. Epub 2023 Aug 27 doi: 10.1038/s41591-023-02513-2. PMID: 37635156
Mishel's uncertainty in illness theory: Informing nursing diagnoses and care planning.
Reinken DN, Reed SM
Int J Nurs Knowl 2023 Oct;34(4):316-324. Epub 2022 Nov 10 doi: 10.1111/2047-3095.12406. PMID: 36366808
Recent Insights Into Cyberchondria.
Starcevic V, Berle D, Arnáez S
Curr Psychiatry Rep 2020 Aug 27;22(11):56. doi: 10.1007/s11920-020-01179-8. PMID: 32852626Free PMC Article
Reasoning under uncertainty.
Aitken C, Mavridis D
Evid Based Ment Health 2019 Feb;22(1):44-48. Epub 2019 Jan 24 doi: 10.1136/ebmental-2018-300074. PMID: 30679196Free PMC Article
Sense-making under ignorance.
Johnson SG, Rajeev-Kumar G, Keil FC
Cogn Psychol 2016 Sep;89:39-70. Epub 2016 Jul 29 doi: 10.1016/j.cogpsych.2016.06.004. PMID: 27479271

Therapy

Handling missing data in clinical research.
Heymans MW, Twisk JWR
J Clin Epidemiol 2022 Nov;151:185-188. Epub 2022 Sep 21 doi: 10.1016/j.jclinepi.2022.08.016. PMID: 36150546
Cognitive behavioural therapy with exposure and response prevention in the treatment of obsessive-compulsive disorder: A systematic review and meta-analysis of randomised controlled trials.
Reid JE, Laws KR, Drummond L, Vismara M, Grancini B, Mpavaenda D, Fineberg NA
Compr Psychiatry 2021 Apr;106:152223. Epub 2021 Feb 2 doi: 10.1016/j.comppsych.2021.152223. PMID: 33618297
Equipoise and the RCT.
Braakhekke M, Mol F, Mastenbroek S, Mol BW, van der Veen F
Hum Reprod 2017 Feb;32(2):257-260. Epub 2016 Nov 14 doi: 10.1093/humrep/dew286. PMID: 28119447
Mothers' milk.
Nature 2016 May 12;533(7602):145. doi: 10.1038/533145a. PMID: 27172008
Stratified randomization for clinical trials.
Kernan WN, Viscoli CM, Makuch RW, Brass LM, Horwitz RI
J Clin Epidemiol 1999 Jan;52(1):19-26. doi: 10.1016/s0895-4356(98)00138-3. PMID: 9973070

Prognosis

Teaching the science of uncertainty.
Moulder G, Harris E, Santhosh L
Diagnosis (Berl) 2023 Feb 1;10(1):13-18. Epub 2022 Sep 12 doi: 10.1515/dx-2022-0045. PMID: 36087299
Modeling fast-and-frugal heuristics.
Wang Y, Luan S, Gigerenzer G
Psych J 2022 Aug;11(4):600-611. Epub 2022 Jul 1 doi: 10.1002/pchj.576. PMID: 35778774
Reasoning under uncertainty.
Aitken C, Mavridis D
Evid Based Ment Health 2019 Feb;22(1):44-48. Epub 2019 Jan 24 doi: 10.1136/ebmental-2018-300074. PMID: 30679196Free PMC Article
Uncertainty in Illness: Theory Review, Application, and Extension.
Zhang Y
Oncol Nurs Forum 2017 Nov 1;44(6):645-649. doi: 10.1188/17.ONF.645-649. PMID: 29052657
Sense-making under ignorance.
Johnson SG, Rajeev-Kumar G, Keil FC
Cogn Psychol 2016 Sep;89:39-70. Epub 2016 Jul 29 doi: 10.1016/j.cogpsych.2016.06.004. PMID: 27479271

Clinical prediction guides

Uncertainty-inspired open set learning for retinal anomaly identification.
Wang M, Lin T, Wang L, Lin A, Zou K, Xu X, Zhou Y, Peng Y, Meng Q, Qian Y, Deng G, Wu Z, Chen J, Lin J, Zhang M, Zhu W, Zhang C, Zhang D, Goh RSM, Liu Y, Pang CP, Chen X, Chen H, Fu H
Nat Commun 2023 Oct 24;14(1):6757. doi: 10.1038/s41467-023-42444-7. PMID: 37875484Free PMC Article
Communicating uncertainty using words and numbers.
Dhami MK, Mandel DR
Trends Cogn Sci 2022 Jun;26(6):514-526. Epub 2022 Apr 7 doi: 10.1016/j.tics.2022.03.002. PMID: 35397985
Moral Hindsight.
Fleischhut N, Meder B, Gigerenzer G
Exp Psychol 2017 Mar;64(2):110-123. doi: 10.1027/1618-3169/a000353. PMID: 28497719
Sense-making under ignorance.
Johnson SG, Rajeev-Kumar G, Keil FC
Cogn Psychol 2016 Sep;89:39-70. Epub 2016 Jul 29 doi: 10.1016/j.cogpsych.2016.06.004. PMID: 27479271
Expectation and (un)predictability.
Knottnerus JA, Tugwell P
J Clin Epidemiol 2010 Apr;63(4):345-6. doi: 10.1016/j.jclinepi.2010.01.007. PMID: 20219533

Recent systematic reviews

Psychological treatments for depression and anxiety in dementia and mild cognitive impairment.
Orgeta V, Leung P, Del-Pino-Casado R, Qazi A, Orrell M, Spector AE, Methley AM
Cochrane Database Syst Rev 2022 Apr 25;4(4):CD009125. doi: 10.1002/14651858.CD009125.pub3. PMID: 35466396Free PMC Article
Association Between Physical Activity and Risk of Depression: A Systematic Review and Meta-analysis.
Pearce M, Garcia L, Abbas A, Strain T, Schuch FB, Golubic R, Kelly P, Khan S, Utukuri M, Laird Y, Mok A, Smith A, Tainio M, Brage S, Woodcock J
JAMA Psychiatry 2022 Jun 1;79(6):550-559. doi: 10.1001/jamapsychiatry.2022.0609. PMID: 35416941Free PMC Article
Palliative care interventions in advanced dementia.
Walsh SC, Murphy E, Devane D, Sampson EL, Connolly S, Carney P, O'Shea E
Cochrane Database Syst Rev 2021 Sep 28;9(9):CD011513. doi: 10.1002/14651858.CD011513.pub3. PMID: 34582034Free PMC Article
Repositioning for pressure injury prevention in adults.
Gillespie BM, Walker RM, Latimer SL, Thalib L, Whitty JA, McInnes E, Chaboyer WP
Cochrane Database Syst Rev 2020 Jun 2;6(6):CD009958. doi: 10.1002/14651858.CD009958.pub3. PMID: 32484259Free PMC Article
Pelvic floor muscle training for prevention and treatment of urinary and faecal incontinence in antenatal and postnatal women.
Woodley SJ, Boyle R, Cody JD, Mørkved S, Hay-Smith EJC
Cochrane Database Syst Rev 2017 Dec 22;12(12):CD007471. doi: 10.1002/14651858.CD007471.pub3. PMID: 29271473Free PMC Article

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