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Abnormal joint physiology

MedGen UID:
1841757
•Concept ID:
C5826387
•
Finding
HPO: HP:0034430

Professional guidelines

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL
Genet Med 2020 Feb;22(2):245-257. Epub 2019 Nov 6 doi: 10.1038/s41436-019-0686-8. PMID: 31690835Free PMC Article
Diagnosis and treatment of temporomandibular disorders.
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556
Harmonizing the metabolic syndrome: a joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; and International Association for the Study of Obesity.
Alberti KG, Eckel RH, Grundy SM, Zimmet PZ, Cleeman JI, Donato KA, Fruchart JC, James WP, Loria CM, Smith SC Jr; International Diabetes Federation Task Force on Epidemiology and Prevention; Hational Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; International Association for the Study of Obesity
Circulation 2009 Oct 20;120(16):1640-5. Epub 2009 Oct 5 doi: 10.1161/CIRCULATIONAHA.109.192644. PMID: 19805654

Recent clinical studies

Etiology

The effect of short foot exercise using visual feedback on the balance and accuracy of knee joint movement in subjects with flexible flatfoot.
Kim JS, Lee MY
Medicine (Baltimore) 2020 Mar;99(13):e19260. doi: 10.1097/MD.0000000000019260. PMID: 32221061Free PMC Article
The long-term use of foot orthoses affects walking kinematics and kinetics of children with flexible flat feet: A randomized controlled trial.
Jafarnezhadgero A, Madadi-Shad M, Alavi-Mehr SM, Granacher U
PLoS One 2018;13(10):e0205187. Epub 2018 Oct 9 doi: 10.1371/journal.pone.0205187. PMID: 30300405Free PMC Article
Update on calcium pyrophosphate deposition.
Abhishek A, Doherty M
Clin Exp Rheumatol 2016 Jul-Aug;34(4 Suppl 98):32-8. Epub 2016 Jul 22 PMID: 27586801
The Ehlers-Danlos syndrome.
Malfait F, De Paepe A
Adv Exp Med Biol 2014;802:129-43. doi: 10.1007/978-94-007-7893-1_9. PMID: 24443025
Athletics and osteoarthritis.
Buckwalter JA, Lane NE
Am J Sports Med 1997 Nov-Dec;25(6):873-81. doi: 10.1177/036354659702500624. PMID: 9397280

Diagnosis

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Ultrasound of the osteoarthritic joint.
Iagnocco A, Naredo E
Clin Exp Rheumatol 2017 May-Jun;35(3):527-534. Epub 2017 Feb 10 PMID: 28229810
Adult flatfoot.
Toullec E
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S11-7. Epub 2015 Jan 13 doi: 10.1016/j.otsr.2014.07.030. PMID: 25595429
Pathogenesis and management of pain in osteoarthritis.
Dieppe PA, Lohmander LS
Lancet 2005 Mar 12-18;365(9463):965-73. doi: 10.1016/S0140-6736(05)71086-2. PMID: 15766999
The neuropathic joint.
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Therapy

Comprehensive corrective exercise program improves alignment, muscle activation and movement pattern of men with upper crossed syndrome: randomized controlled trial.
Seidi F, Bayattork M, Minoonejad H, Andersen LL, Page P
Sci Rep 2020 Nov 26;10(1):20688. doi: 10.1038/s41598-020-77571-4. PMID: 33244045Free PMC Article
The effect of short foot exercise using visual feedback on the balance and accuracy of knee joint movement in subjects with flexible flatfoot.
Kim JS, Lee MY
Medicine (Baltimore) 2020 Mar;99(13):e19260. doi: 10.1097/MD.0000000000019260. PMID: 32221061Free PMC Article
Two-Stage Varus Correction.
Steginsky B, Haddad SL
Foot Ankle Clin 2019 Jun;24(2):281-304. Epub 2019 Apr 6 doi: 10.1016/j.fcl.2019.02.012. PMID: 31036269
Functional disorders of the temporomandibular joints: Internal derangement of the temporomandibular joint.
Chang CL, Wang DH, Yang MC, Hsu WE, Hsu ML
Kaohsiung J Med Sci 2018 Apr;34(4):223-230. Epub 2018 Feb 7 doi: 10.1016/j.kjms.2018.01.004. PMID: 29655411
The Ehlers-Danlos syndrome.
Malfait F, De Paepe A
Adv Exp Med Biol 2014;802:129-43. doi: 10.1007/978-94-007-7893-1_9. PMID: 24443025

Prognosis

Ultrasound of the osteoarthritic joint.
Iagnocco A, Naredo E
Clin Exp Rheumatol 2017 May-Jun;35(3):527-534. Epub 2017 Feb 10 PMID: 28229810
Second metatarsophalangeal joint pathology and freiberg disease.
Shane A, Reeves C, Wobst G, Thurston P
Clin Podiatr Med Surg 2013 Jul;30(3):313-25. doi: 10.1016/j.cpm.2013.04.009. PMID: 23827490
Arthrogryposis multiplex congenita.
Gordon N
Brain Dev 1998 Oct;20(7):507-11. doi: 10.1016/s0387-7604(98)00037-0. PMID: 9840670
Rheumatoid arthritis: sequences.
Scutellari PN, Orzincolo C
Eur J Radiol 1998 May;27 Suppl 1:S31-8. doi: 10.1016/s0720-048x(98)00040-0. PMID: 9652499
Hallux varus.
Mills JA, Menelaus MB
J Bone Joint Surg Br 1989 May;71(3):437-40. doi: 10.1302/0301-620X.71B3.2722937. PMID: 2722937

Clinical prediction guides

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
The long-term use of foot orthoses affects walking kinematics and kinetics of children with flexible flat feet: A randomized controlled trial.
Jafarnezhadgero A, Madadi-Shad M, Alavi-Mehr SM, Granacher U
PLoS One 2018;13(10):e0205187. Epub 2018 Oct 9 doi: 10.1371/journal.pone.0205187. PMID: 30300405Free PMC Article
Ultrasound of the osteoarthritic joint.
Iagnocco A, Naredo E
Clin Exp Rheumatol 2017 May-Jun;35(3):527-534. Epub 2017 Feb 10 PMID: 28229810
Femoroacetabular impingement--diagnosis and treatment.
Kaplan KM, Shah MR, Youm T
Bull NYU Hosp Jt Dis 2010;68(2):70-5. PMID: 20632980
The neuropathic joint.
Sequeira W
Clin Exp Rheumatol 1994 May-Jun;12(3):325-37. PMID: 8070170

Recent systematic reviews

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
Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS
Hum Reprod Update 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. PMID: 34498060Free PMC Article
Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717
Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review.
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604

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