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Congenital Abnormalities of Erythrocyte Differentiation or Function

MedGen UID:: 363229
•Concept ID:: C1880167
•: Disease or Syndrome

Synonym:

Inherited Abnormalities of Erythrocyte Differentiation or Function

Definition

Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital Abnormalities of Erythrocyte Differentiation or Function

Disease
- Disorder by Site
  - Hematopoietic and Lymphoid System Disorder
    - Hematologic disorder
      - Non-Neoplastic Hematologic and Lymphocytic Disorder
        Congenital hematological disorder
        Congenital Abnormalities of Erythrocyte Differentiation or Function

Professional guidelines

PubMed

American Association of Clinical Endocrinology Consensus Statement: Comprehensive Type 2 Diabetes Management Algorithm - 2023 Update.

Samson SL, Vellanki P, Blonde L, Christofides EA, Galindo RJ, Hirsch IB, Isaacs SD, Izuora KE, Low Wang CC, Twining CL, Umpierrez GE, Valencia WM
Endocr Pract 2023 May;29(5):305-340. doi: 10.1016/j.eprac.2023.02.001. PMID: 37150579

Definition and Diagnostic Criteria for Sarcopenic Obesity: ESPEN and EASO Consensus Statement.

Donini LM, Busetto L, Bischoff SC, Cederholm T, Ballesteros-Pomar MD, Batsis JA, Bauer JM, Boirie Y, Cruz-Jentoft AJ, Dicker D, Frara S, Frühbeck G, Genton L, Gepner Y, Giustina A, Gonzalez MC, Han HS, Heymsfield SB, Higashiguchi T, Laviano A, Lenzi A, Nyulasi I, Parrinello E, Poggiogalle E, Prado CM, Salvador J, Rolland Y, Santini F, Serlie MJ, Shi H, Sieber CC, Siervo M, Vettor R, Villareal DT, Volkert D, Yu J, Zamboni M, Barazzoni R
Obes Facts 2022;15(3):321-335. Epub 2022 Feb 23 doi: 10.1159/000521241. PMID: 35196654 Free PMC Article

Clinical practice guideline on diagnosis and treatment of hyponatraemia.

Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

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Recent clinical studies

Etiology

Sixty years of learning and teaching physiology.

Williams JA
Adv Physiol Educ 2023 Dec 1;47(4):732-742. Epub 2023 Jul 27 doi: 10.1152/advan.00094.2023. PMID: 37498551

Stress and Inflammation in Coronary Artery Disease: A Review Psychoneuroendocrineimmunology-Based.

Fioranelli M, Bottaccioli AG, Bottaccioli F, Bianchi M, Rovesti M, Roccia MG
Front Immunol 2018;9:2031. Epub 2018 Sep 6 doi: 10.3389/fimmu.2018.02031. PMID: 30237802 Free PMC Article

The shaping, making and baking of a pancreatologist.

Lerch MM
Pancreatology 2018 Jun;18(4):347-353. Epub 2018 Apr 21 doi: 10.1016/j.pan.2018.04.007. PMID: 29699868

A large drawing of a nephron for teaching medical students renal physiology, histology, and pharmacology.

Robinson PG, Newman D, Reitz CL, Vaynberg LZ, Bahga DK, Levitt MH
Adv Physiol Educ 2018 Jun 1;42(2):192-199. doi: 10.1152/advan.00022.2017. PMID: 29616568

Comparative immunology.

Cooper EL
Curr Pharm Des 2003;9(2):119-31. doi: 10.2174/1381612033392297. PMID: 12570663

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Diagnosis

The birth of experimental physiology.

Forcieri S, Beretta EP, Riva MA
Adv Physiol Educ 2022 Dec 1;46(4):593-597. Epub 2022 Aug 25 doi: 10.1152/advan.00126.2022. PMID: 36007939

Diamond-Blackfan anemia.

Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755 Free PMC Article

Cardiac Optogenetics: 2018.

Boyle PM, Karathanos TV, Trayanova NA
JACC Clin Electrophysiol 2018 Feb;4(2):155-167. Epub 2018 Feb 1 doi: 10.1016/j.jacep.2017.12.006. PMID: 29749932 Free PMC Article

Electrophysiologic auditory tests.

Legatt AD
Handb Clin Neurol 2015;129:289-311. doi: 10.1016/B978-0-444-62630-1.00017-2. PMID: 25726276

Inhibin.

De Jong FH
Physiol Rev 1988 Apr;68(2):555-607. doi: 10.1152/physrev.1988.68.2.555. PMID: 3282246

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Therapy

The PEDro scale is a valid measure of the methodological quality of clinical trials: a demographic study.

de Morton NA
Aust J Physiother 2009;55(2):129-33. doi: 10.1016/s0004-9514(09)70043-1. PMID: 19463084

Direct effect models.

van der Laan MJ, Petersen ML
Int J Biostat 2008;4(1):Article 23. doi: 10.2202/1557-4679.1064. PMID: 22462121

Beyond genomics.

Dollery CT
Clin Pharmacol Ther 2007 Oct;82(4):366-70. doi: 10.1038/sj.clpt.6100363. PMID: 17851575

Clinical trials.

Giacinti L, Lopez M, Giordano A
Front Biosci 2006 Sep 1;11:2918-23. doi: 10.2741/2020. PMID: 16720363

Continuous or nocturnal oxygen therapy in hypoxemic chronic obstructive lung disease: a clinical trial. Nocturnal Oxygen Therapy Trial Group.

Ann Intern Med 1980 Sep;93(3):391-8. doi: 10.7326/0003-4819-93-3-391. PMID: 6776858

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Prognosis

Epidemiology and one-year outcomes in patients with chronic heart failure and preserved, mid-range and reduced ejection fraction: an analysis of the ESC Heart Failure Long-Term Registry.

Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G
Eur J Heart Fail 2017 Dec;19(12):1574-1585. Epub 2017 Apr 6 doi: 10.1002/ejhf.813. PMID: 28386917

Congenital dyserythropoietic anemias.

Iolascon A, Russo R, Delaunay J
Curr Opin Hematol 2011 May;18(3):146-51. doi: 10.1097/MOH.0b013e32834521b0. PMID: 21378561

Mortality and morbidity trends: is there compression of morbidity?

Crimmins EM, Beltrán-Sánchez H
J Gerontol B Psychol Sci Soc Sci 2011 Jan;66(1):75-86. Epub 2010 Dec 6 doi: 10.1093/geronb/gbq088. PMID: 21135070 Free PMC Article

Human senescence.

Kirkwood TB
Bioessays 1996 Dec;18(12):1009-16. doi: 10.1002/bies.950181211. PMID: 8976158

Congenital hypoplastic anemia.

Diamond LK, Wang WC, Alter BP
Adv Pediatr 1976;22:349-78. PMID: 773132

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Clinical prediction guides

Radiographic evaluations: Which are most effective to follow fracture healing?

Atwan Y, Schemitsch EH
Injury 2020 May;51 Suppl 2:S18-S22. Epub 2020 Jan 11 doi: 10.1016/j.injury.2019.12.028. PMID: 31983424

Focused Cardiac Ultrasonography.

Spencer KT, Flachskampf FA
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1243-1253. doi: 10.1016/j.jcmg.2018.12.036. PMID: 31272607

Variability of longitudinal strain measurements: levelling the playing field.

Mirea O, Corîci OM, Berceanu M, Donoiu I, Militaru C, Istratoaie O
Acta Cardiol 2019 Jun;74(3):188-197. Epub 2018 Jun 18 doi: 10.1080/00015385.2018.1480469. PMID: 29914297

Joint counts in inflammatory arthritis.

Scott IC, Scott DL
Clin Exp Rheumatol 2014 Sep-Oct;32(5 Suppl 85):S-7-12. Epub 2014 Oct 30 PMID: 25365082

The amputee mobility predictor: an instrument to assess determinants of the lower-limb amputee's ability to ambulate.

Gailey RS, Roach KE, Applegate EB, Cho B, Cunniffe B, Licht S, Maguire M, Nash MS
Arch Phys Med Rehabil 2002 May;83(5):613-27. doi: 10.1053/apmr.2002.32309. PMID: 11994800

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Recent systematic reviews

Effects of physical therapy-based rehabilitation on recovery of upper limb motor function after stroke in adults: a systematic review and meta-analysis of randomized controlled trials.

Huang J, Ji JR, Liang C, Zhang YZ, Sun HC, Yan YH, Xing XB
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Bidzan-Bluma I, Lipowska M
Int J Environ Res Public Health 2018 Apr 19;15(4) doi: 10.3390/ijerph15040800. PMID: 29671803 Free PMC Article

Effects of balance and proprioceptive training on total hip and knee replacement rehabilitation: A systematic review and meta-analysis.

Domínguez-Navarro F, Igual-Camacho C, Silvestre-Muñoz A, Roig-Casasús S, Blasco JM
Gait Posture 2018 May;62:68-74. Epub 2018 Mar 5 doi: 10.1016/j.gaitpost.2018.03.003. PMID: 29525292

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Barton C, Bickell M, Fucile S
Phys Occup Ther Pediatr 2018 May;38(2):190-209. Epub 2017 Apr 21 doi: 10.1080/01942638.2017.1290734. PMID: 28430014

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Mancini E, Beglinger C, Drewe J, Zanchi D, Lang UE, Borgwardt S
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