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Pure or complex autosomal recessive spastic paraplegia

MedGen UID:
1842728
•Concept ID:
C5679887
•
Disease or Syndrome
Synonym: Pure or complicated autosomal recessive spastic paraplegia
 
Orphanet: ORPHA320346

Professional guidelines

PubMed

A multisociety Delphi consensus statement on new fatty liver disease nomenclature.
Rinella ME, Lazarus JV, Ratziu V, Francque SM, Sanyal AJ, Kanwal F, Romero D, Abdelmalek MF, Anstee QM, Arab JP, Arrese M, Bataller R, Beuers U, Boursier J, Bugianesi E, Byrne CD, Castro Narro GE, Chowdhury A, Cortez-Pinto H, Cryer DR, Cusi K, El-Kassas M, Klein S, Eskridge W, Fan J, Gawrieh S, Guy CD, Harrison SA, Kim SU, Koot BG, Korenjak M, Kowdley KV, Lacaille F, Loomba R, Mitchell-Thain R, Morgan TR, Powell EE, Roden M, Romero-Gómez M, Silva M, Singh SP, Sookoian SC, Spearman CW, Tiniakos D, Valenti L, Vos MB, Wong VW, Xanthakos S, Yilmaz Y, Younossi Z, Hobbs A, Villota-Rivas M, Newsome PN; NAFLD Nomenclature consensus group
Hepatology 2023 Dec 1;78(6):1966-1986. Epub 2023 Jun 24 doi: 10.1097/HEP.0000000000000520. PMID: 37363821Free PMC Article
Progressive pulmonary fibrosis: an expert group consensus statement.
Rajan SK, Cottin V, Dhar R, Danoff S, Flaherty KR, Brown KK, Mohan A, Renzoni E, Mohan M, Udwadia Z, Shenoy P, Currow D, Devraj A, Jankharia B, Kulshrestha R, Jones S, Ravaglia C, Quadrelli S, Iyer R, Dhooria S, Kolb M, Wells AU
Eur Respir J 2023 Mar;61(3) Epub 2023 Mar 30 doi: 10.1183/13993003.03187-2021. PMID: 36517177Free PMC Article
Autonomic dysfunction in Parkinson's disease: Implications for pathophysiology, diagnosis, and treatment.
Chen Z, Li G, Liu J
Neurobiol Dis 2020 Feb;134:104700. Epub 2019 Dec 3 doi: 10.1016/j.nbd.2019.104700. PMID: 31809788

Recent clinical studies

Etiology

Clinical characteristics and outcomes of 100 adult patients with pure red cell aplasia.
Wu X, Cheng L, Liu X, Sun Y, Li B, He G, Li J
Ann Hematol 2022 Jul;101(7):1493-1498. Epub 2022 Apr 23 doi: 10.1007/s00277-022-04847-2. PMID: 35460389
Pure altruism and misjudgement: A bad combination?
Simonsen NF, Kjær T, Gyrd-Hansen D
J Health Econ 2021 Dec;80:102550. Epub 2021 Nov 1 doi: 10.1016/j.jhealeco.2021.102550. PMID: 34794008
Audiometry-Based Screening Procedure for Cochlear Implant Candidacy.
Hoppe U, Hast A, Hocke T
Otol Neurotol 2015 Jul;36(6):1001-5. doi: 10.1097/MAO.0000000000000730. PMID: 25700016
Chronic lymphocytic leukemia-associated pure red cell aplasia.
D'Arena G, Cascavilla N
Int J Immunopathol Pharmacol 2009 Apr-Jun;22(2):279-86. doi: 10.1177/039463200902200204. PMID: 19505381
Anti-erythropoietin antibodies and pure red cell aplasia.
Rossert J, Casadevall N, Eckardt KU
J Am Soc Nephrol 2004 Feb;15(2):398-406. doi: 10.1097/01.asn.0000107561.59698.42. PMID: 14747386

Diagnosis

How I manage acquired pure red cell aplasia in adults.
Gurnari C, Maciejewski JP
Blood 2021 Apr 15;137(15):2001-2009. doi: 10.1182/blood.2021010898. PMID: 33657207Free PMC Article
Seeing is not believing.
Foster Z, Kini A, Al Othman B, Lee AG, Vaphiades M
Surv Ophthalmol 2020 May-Jun;65(3):386-390. Epub 2019 Apr 4 doi: 10.1016/j.survophthal.2019.03.008. PMID: 30953621
Pure Autonomic Failure.
Coon EA, Singer W, Low PA
Mayo Clin Proc 2019 Oct;94(10):2087-2098. Epub 2019 Sep 9 doi: 10.1016/j.mayocp.2019.03.009. PMID: 31515103Free PMC Article
Pure autonomic failure.
Kabir MA, Chelimsky TC
Handb Clin Neurol 2019;161:413-422. doi: 10.1016/B978-0-444-64142-7.00064-3. PMID: 31307617
Infection and anemia.
Kwaan HC
Infect Disord Drug Targets 2011 Feb;11(1):40-4. doi: 10.2174/187152611794407791. PMID: 21303340

Therapy

Time-to-event clinical trial designs: Existing evidence and remaining concerns.
Kerr WT, Auvin S, Van der Geyten S, Kenney C, Novak G, Fountain NB, Grzeskowiak C, French JA
Epilepsia 2023 Jul;64(7):1699-1708. Epub 2023 May 2 doi: 10.1111/epi.17621. PMID: 37073881Free PMC Article
The Effects of Green Tea Amino Acid L-Theanine Consumption on the Ability to Manage Stress and Anxiety Levels: a Systematic Review.
Williams JL, Everett JM, D'Cunha NM, Sergi D, Georgousopoulou EN, Keegan RJ, McKune AJ, Mellor DD, Anstice N, Naumovski N
Plant Foods Hum Nutr 2020 Mar;75(1):12-23. doi: 10.1007/s11130-019-00771-5. PMID: 31758301
Efficacy of omega-3 PUFAs in depression: A meta-analysis.
Liao Y, Xie B, Zhang H, He Q, Guo L, Subramanieapillai M, Fan B, Lu C, McIntyre RS
Transl Psychiatry 2019 Aug 5;9(1):190. doi: 10.1038/s41398-019-0515-5. PMID: 31383846Free PMC Article
Beyond Statins: Who and When to Prescribe?
Ganda O
Curr Diab Rep 2018 Oct 15;18(11):126. doi: 10.1007/s11892-018-1087-0. PMID: 30324282
Patient selection for trials.
Wolinsky JS
Mult Scler 2017 Oct;23(12):1636-1641. doi: 10.1177/1352458517729458. PMID: 29041867

Prognosis

A Multi-Institutional, Randomized, Phase III Trial Comparing Anatomical Segmentectomy and Lobectomy for Clinical Stage IA3 Pure-Solid Non-Small-Cell Lung Cancer: West Japan Oncology Group Study WJOG16923L (STEP UP Trial).
Kamigaichi A, Hamada A, Tsuboi M, Yoshimura K, Okamoto I, Yamamoto N, Tsutani Y
Clin Lung Cancer 2024 Jun;25(4):384-388.e1. Epub 2024 Jan 26 doi: 10.1016/j.cllc.2024.01.004. PMID: 38360496
DALY Estimation Approaches: Understanding and Using the Incidence-based Approach and the Prevalence-based Approach.
Kim YE, Jung YS, Ock M, Yoon SJ
J Prev Med Public Health 2022 Jan;55(1):10-18. Epub 2022 Jan 19 doi: 10.3961/jpmph.21.597. PMID: 35135044Free PMC Article
Prevalence and incidence of hearing impairment among adults: a 13-year follow-up study.
Lohi V, Ohtonen P, Sorri M, Mäki-Torkko E, Hannula S
Int J Audiol 2021 Sep;60(9):687-694. Epub 2021 Jan 10 doi: 10.1080/14992027.2020.1865581. PMID: 33426978
Epidemiologic studies targeting primary cardiovascular disease prevention in South Asia.
Rehman H, Samad Z, Mishra SR, Merchant AT, Narula JP, Mishra S, Virani SS
Indian Heart J 2018 Sep-Oct;70(5):721-730. Epub 2018 Jan 31 doi: 10.1016/j.ihj.2018.01.029. PMID: 30392513Free PMC Article
Epoetin-induced autoimmune pure red cell aplasia.
Casadevall N, Eckardt KU, Rossert J
J Am Soc Nephrol 2005 Mar;16 Suppl 1:S67-9. doi: 10.1681/asn.2004110959. PMID: 15938038

Clinical prediction guides

Coronary Atherosclerosis Phenotypes in Focal and Diffuse Disease.
Sakai K, Mizukami T, Leipsic J, Belmonte M, Sonck J, Nørgaard BL, Otake H, Ko B, Koo BK, Maeng M, Jensen JM, Buytaert D, Munhoz D, Andreini D, Ohashi H, Shinke T, Taylor CA, Barbato E, Johnson NP, De Bruyne B, Collet C
JACC Cardiovasc Imaging 2023 Nov;16(11):1452-1464. Epub 2023 Jul 19 doi: 10.1016/j.jcmg.2023.05.018. PMID: 37480908
Childhood psychogenic hearing loss: Identification and diagnosis.
Parodi M, Rouillon I, Rebours C, Denoyelle F, Loundon N
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Dec;134(6):415-418. Epub 2017 May 4 doi: 10.1016/j.anorl.2017.03.009. PMID: 28479298
Image quality in CT: From physical measurements to model observers.
Verdun FR, Racine D, Ott JG, Tapiovaara MJ, Toroi P, Bochud FO, Veldkamp WJH, Schegerer A, Bouwman RW, Giron IH, Marshall NW, Edyvean S
Phys Med 2015 Dec;31(8):823-843. Epub 2015 Oct 12 doi: 10.1016/j.ejmp.2015.08.007. PMID: 26459319
Should Gleason 6 be labeled as cancer?
Kulac I, Haffner MC, Yegnasubramanian S, Epstein JI, De Marzo AM
Curr Opin Urol 2015 May;25(3):238-45. doi: 10.1097/MOU.0000000000000165. PMID: 25730327Free PMC Article
When to use agreement versus reliability measures.
de Vet HC, Terwee CB, Knol DL, Bouter LM
J Clin Epidemiol 2006 Oct;59(10):1033-9. Epub 2006 Aug 10 doi: 10.1016/j.jclinepi.2005.10.015. PMID: 16980142

Recent systematic reviews

Meta-analysis: Radial Scar and Breast MRI.
Ferre R, Covington MF, Kuzmiak CM
Acad Radiol 2024 Oct;31(10):3910-3916. Epub 2024 May 7 doi: 10.1016/j.acra.2024.04.007. PMID: 38714429
Therapeutic Exercises and Modalities in Athletes With Acute Hamstring Injuries: A Systematic Review and Meta-analysis.
Jankaew A, Chen JC, Chamnongkich S, Lin CF
Sports Health 2023 Jul-Aug;15(4):497-511. Epub 2022 Aug 22 doi: 10.1177/19417381221118085. PMID: 35996322Free PMC Article
Peripheral hearing in Parkinson's disease: a systematic review.
Leme MS, Sanches SGG, Carvallo RMM
Int J Audiol 2023 Sep;62(9):805-813. Epub 2022 Aug 18 doi: 10.1080/14992027.2022.2109073. PMID: 35980314
Uterine Artery Embolization for the Treatment of Adenomyosis: A Systematic Review and Meta-Analysis.
de Bruijn AM, Smink M, Lohle PNM, Huirne JAF, Twisk JWR, Wong C, Schoonmade L, Hehenkamp WJK
J Vasc Interv Radiol 2017 Dec;28(12):1629-1642.e1. Epub 2017 Oct 9 doi: 10.1016/j.jvir.2017.07.034. PMID: 29032946
Squamous cell carcinoma of the pancreas: A systematic review and pooled survival analysis.
Ntanasis-Stathopoulos I, Tsilimigras DI, Georgiadou D, Kanavidis P, Riccioni O, Salla C, Psaltopoulou T, Sergentanis TN
Eur J Cancer 2017 Jul;79:193-204. Epub 2017 May 13 doi: 10.1016/j.ejca.2017.04.006. PMID: 28511147

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