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Tratamiento rehabilitador en un paciente con citrulinemia tipo I asociada a deficiencia de beta-ureidopropionasa, primer caso reportado I 型瓜氨酸血症伴 beta-ureidopropionase 缺乏症患者的康复治疗，首例报告

Fisioterapia Pub Date : 2024-09-01 DOI: 10.1016/j.ft.2024.06.001

P.A. López Hernandez , M. Hernández García , A. Ramirez Castillo , S. Bezares Reyes , J. Mantilla Capacho

{"title":"Tratamiento rehabilitador en un paciente con citrulinemia tipo I asociada a deficiencia de beta-ureidopropionasa, primer caso reportado","authors":"P.A. López Hernandez , M. Hernández García , A. Ramirez Castillo , S. Bezares Reyes , J. Mantilla Capacho","doi":"10.1016/j.ft.2024.06.001","DOIUrl":"10.1016/j.ft.2024.06.001","url":null,"abstract":"<div><h3>Introduction and objectives</h3><p>Beta-ureidopropionase deficiency and citrullinemia type I are rare inborn errors of metabolism. The objective of this study is to present a clinical case with the presence of the two genetic pathologies confirmed with molecular analysis and to design a multidisciplinary rehabilitative treatment based on the International Classification of Functioning, Disability and Health (ICF).</p></div><div><h3>Materials and methods</h3><p>A female patient with a moderate physical and intellectual disability is presented, with neurological damage secondary to metabolic deregulation; additionally, he has deficiencies in: gait, posture, neurosensory area and limitations in Basic Activities of Daily Living (BADL). A therapeutic intervention based on the ICF was carried out and multidisciplinary rehabilitation treatments of physiotherapy (20 sessions), occupational therapy (10 sessions) and psychology (15 sessions) were designed. The results obtained were evaluated with clinical and psychological assessments and with the application of scales such as: EPlfant, WeeFIM and the Get Up and Go Test and visual gait analysis.</p></div><div><h3>Results</h3><p>A result of 70% improvement in gait and posture was obtained. 70% improvement in ABDL, in the neurosensory and psychomotor area. Better psychosocial performance was promoted, with improvement in cognitive and recreational activities.</p></div><div><h3>Conclusions</h3><p>This is the first case reported in the literature with a new mutation not registered in ClinVar. It is important to apply the ICF in all patients with disabilities, to determine specific rehabilitation treatment objectives in a multidisciplinary manner.</p></div>","PeriodicalId":34994,"journal":{"name":"Fisioterapia","volume":"46 5","pages":"Pages 292-298"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142149032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Implementación de telerrehabilitación en Latinoamérica: revisión sistemática exploratoria 拉丁美洲远程康复的实施情况：探索性系统回顾

Fisioterapia Pub Date : 2024-09-01 DOI: 10.1016/j.ft.2024.05.001

O.M. Hernández Orobio , N.L. Hernández , R. González Cabanach , L. González Doníz

{"title":"Implementación de telerrehabilitación en Latinoamérica: revisión sistemática exploratoria","authors":"O.M. Hernández Orobio , N.L. Hernández , R. González Cabanach , L. González Doníz","doi":"10.1016/j.ft.2024.05.001","DOIUrl":"10.1016/j.ft.2024.05.001","url":null,"abstract":"<div><p>Telerehabilitation (TR) is a service delivery modality that favors access to rehabilitation; there is a need for research about TR implementation in Latin America (LA) to demonstrate development strategies and impact results.</p></div><div><h3>Aim</h3><p>To identify characteristics, barriers and facilitators of TR implementation in LA.</p></div><div><h3>Method</h3><p>Scoping review from January 1, 2010, to December 31, 2022, using the databases Virtual Health Library (VHL); Scielo; PubMed; Scopus; Web of Science; EBSCO; CINAHL and Google Scholar; also, manual and gray literature searches.</p></div><div><h3>Results</h3><p>17 articles were identified reporting TR implementation processes in Brazil, Chile, Colombia, Mexico, Guatemala and Haiti. The TR implementation scenarios included primary health care, education and therapeutic intervention services. The most frequently identified barriers were: lack of connectivity; availability of therapeutic implements; difficulties in the use of Information and Communication Technologies (ICTs); quality of ICTs; and organizational and administrative difficulties. Among the facilitators</p><p>: the existence of regulations; ICT education of professionals and users; functionality; beneficiaries’ satisfaction of use and acceptance of TR.</p></div><div><h3>Conclusions</h3><p>TR in LA is emerging, and current literature reveals heterogeneity in terms of populations, settings and implementation outcomes. The identification of barriers and facilitators contributes to the implementation of TR in the region. There is an urgent need for research on TR implementation to respond to the challenges of the Latin American context in various rehabilitation scenarios.</p></div>","PeriodicalId":34994,"journal":{"name":"Fisioterapia","volume":"46 5","pages":"Pages 282-291"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142149024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

P-5. EL EFECTO DE LA REALIDAD VIRTUAL EN PACIENTES CON DOLOR MUSCULOESQUELÉTICO: UNA REVISIÓN SISTEMÁTICA P-5.虚拟现实对肌肉骨骼疼痛患者的影响：系统综述。

Fisioterapia Pub Date : 2024-07-01 DOI: 10.1016/S0211-5638(24)60065-9

E. Carrasco González, D. Casanova Rodriguez, R. Bertoletti Rodriguez, A. Lerín Calvo

引用次数: 0

O-31. EVIDENCIA DE DIFERENTES TÉCNICAS DE FISIOTERAPIA EN ONCOLOGÍA Y UCI. REVISIÓN SISTEMÁTICA O-31.肿瘤学和重症监护中不同物理治疗技术的证据。系统回顾

Fisioterapia Pub Date : 2024-07-01 DOI: 10.1016/S0211-5638(24)60031-3

C.M. Sánchez Torrelo, R. Alonso Royo, I. Villa del Pino, E.E. Jiménez Ortega

引用次数: 0

O-48. NIVEL DE ACTIVIDAD FÍSICA ENTRE ESTUDIANTES DE LA UNIVERSIDADE DA CORUÑA CON DISMENORREA PRIMARIA O-48.患有原发性痛经的科鲁尼亚大学学生的体育锻炼水平

Fisioterapia Pub Date : 2024-07-01 DOI: 10.1016/S0211-5638(24)60048-9

Z. Naia-Entonado, O. Bello Rodríguez