Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Polineuropatía amiloidótica familiar"'
Publikováno v:
Revista Española de Podología, Vol 28, Iss 2, Pp 73-81 (2017)
Introducción: La polineuropatía amiloidótica familiar por transtiretina, también conocida como enfermedad de Corino Andrade, es una amiloidosis hereditaria autosómica dominante producida por mutaciones en el gen de la proteína transtiretina.
Externí odkaz:
https://doaj.org/article/3b6a68e7b13643dcbd345b47efb89ab9
Publikováno v:
Revista Española de Podología, Vol 28, Iss 2, Pp 73-81 (2017)
Resumen Introduccion La polineuropatia amiloidotica familiar por transtiretina, tambien conocida como enfermedad de Corino Andrade, es una amiloidosis hereditaria autosomica dominante producida por mutaciones en el gen de la proteina transtiretina. L
Autor:
Alberto Dougnac L.
Publikováno v:
Ars Medica, Vol 14, Iss 1, Pp 39-47 (2017)
Sin resumen
Autor:
Gladys Pérez, María Cristina Romero, Pedro Trigo, Javier Lendoire, Oscar Imventarza, Alcira Nesse
Publikováno v:
Medicina (Buenos Aires), Vol 68, Iss 4, Pp 273-281 (2008)
La polineuropatía amiloidótica familiar (PAF) es un tipo de amiloidosis hereditaria. Constituye un desorden autosómico dominante caracterizado por el depósito sistémico de material amiloide en tejidos especialmente en nervios periféricos. El pr
Publikováno v:
Lauria G. Small fiber neuropathies. CurrOpinNeurol, 2005; 18: 591-597
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. LancetNeurol. 2011;10(12):1086-97
Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952; 75 (3): 408-27
Conceição I. Clinical features of TTR-FAP in Portugal. Amyloid, 2012; 19(S1): 71-72
Kim DH, Zeldenrust SR, Low PA, Dyck PJ. Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. Muscle Nerve. 2009; 40 (3): 363-70
Lacomis D. Small-fiber neuropathy. MuscleNerve, 2002; 26: 173-188
Raman R, Gupta A, Krishna S, Kulothungan V, Sharma T. Prevalence and risk factors for diabetic microvascular complications in newly diagnosed type II diabetes mellitus. Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN-DREAMS, report 27). J Diabetes Complications. 2012; 26(2):123-8
Cruccu G, Sommer C, Anand P, Attal N, Baron R, Garcia-Larrea L, Haanpaa M, Jensen TS, Serra J, Treede RD. EFNS guidelines on neuropathic pain assessment: revised 2009. Eur J Neurol. 2010;17 (8):1010-8
Tavee J, Zhou L. Small fiber neuropathy: A burning problem. CleveClin J Med. 2009; 76(5):297-305. Review
Schmelz M, Schmidt R. Microneurographic single-unit recordings to assess receptive properties of afferent human C-fibers. Neurosci Lett. 2010;470(3):158-61
Hlubocky A, Wellik K, Ross MA, Smith BE, Hoffman-Snyder C, Demaerschalk BM, Wingerchuk DM. Skin biopsy for diagnosis of small fiber neuropathy: a critically appraised topic. Neurologist. 2010;16(1):61-3
Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, Broglio L, Granieri E, Lauria G. The diagnostic criteria for small fiber neuropathy: from symptoms to neuropathology. Brain. 2008;131(Pt 7):1912-25
Sousa A Sousa A, Coelho T, Barros J, Sequeiros J. Anticipation in familial amyloid neuropathy type I (FAP-I): the possible role of a genetic modifier. J Neurol 1995;S1:48
Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. CurOpinNeurol, 2000; 13: 569-573
Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36(4):411-23. Review
England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ; American Academy of Neurology; American Association of Neuromuscular and Electrodiagnostic Medicine; American Academy of Physical Medicine and Rehabilitation. Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). MuscleNerve. 2009;39(1):106-15
Low VA, Sandroni P, Fealey RD, Low PA. Detection of small-fiber neuropathy by sudomotor testing. MuscleNerve. 2006; 34: 57-61
Conceição IM, Castro JF, Scotto M, De Carvalho M. Neurophysiological markers in familial amyloid polyneuropathy patients: Early changes. ClinNeuropysiol. 2008; 119: 1082-1087
Siao P, Chong T, Cros DP. Quantitative sensory testing equipment and reproducibility studies. American association of electrodiagnostic medicine. Review
Shy ME, Frohman EM, So YT, Arezzo JC, Cornblath DR, Giuliani MJ, Kincaid JC, Ochoa JL, Parry GJ, Weimer LH; Therapeutics and TechnologyAssessment Subcommittee of the American Academy of Neurology. Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology. 2003; 60(6):898-904
Holland NR. Idiopathic painful sensory neuropathy. J Clin Neuromuscul Dis.2001; 2(4):211-20
Vinik EJ, Hayes RP, Oglesby A, Bastyr E, Barlow P, Ford-Molvik SL, Vinik AI.The development and validation of the Norfolk QOL-DN, a new measure of patients' perception of theeffects of diabetes and diabetic neuropathy. Diabetes TechnolTher. 2005;7(3):497-508
Herman WH, Pop-Busui R, Braffett BH, Martin CL, Cleary PA, Albers JW, Feldman EL; DCCT/EDIC Research Group. Use of the Michigan Neuropathy Screening Instrument as a measure of distal symmetrical peripheral neuropathy in Type 1 diabetes: results from the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications. DiabetMed. 2012; 29(7):937-44
Singleton JR, Bixby B, Russell JW, Feldman EL, Peltier A, Goldstein J, Howard J, Smith AG. The Utah Early Neuropathy Scale: a sensitive clinical scale for early sensory predominant neuropathy. J PeripherNervSyst. 2008;13(3):218-27
Rolke R, Baron R, Maier C, Tölle TR, Treede RD, Beyer A, Binder A, Birbaumer N, Birklein F, Bötefür IC, Braune S, Flor H, Huge V, Klug R, Landwehrmeyer GB, Magerl W, Maihöfner C, Rolko C, Schaub C, Scherens A, Sprenger T, Valet M, Wasserka B. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values. Pain. 2006;123(3):231-43
Magerl W, Krumova EK, Baron R, Tölle T, Treede RD, Maier C. Reference data for quantitative sensory testing (QST): refined stratification forage and a novel method for statistical comparison of group data. Pain. 2010;151(3):598-605
Rolke R, Magerl W, Campbell KA, Schalber C, Caspari S, Birklein F, Treede RD. Quantitative sensory testing: a comprehensive protocol for clinical trials. Eur J Pain. 2006;10(1):77-88
Dick PJ, Dyck PJB, Velosa JA, Larson TS, O ́Brien PC, Th enerve growth factor study group. Patterns of quantitative sensation testing of hypoesthesia and hiperalgesia are predictive of diabetic polyneuropathy. Diabetes Care. 2000; 23: 510-517
Dick PJ, Litchy WJ, Lehamn KA, Hokanson JL, Low PA, O ́Brien PC. Variables influencing neuropathic endpoints: The Rochester Diabetic Neuropathy Study of Healthy Subjects. Neurology. 1995; 45: 1115-1121
Peltier A, Smith AG, Russell JW, Sheikh K, Bixby B, Howard J, Goldstein J, Song Y, Wang L, Feldman EL, Singleton JR. Reliability of quantitative sudomotor axon reflex testing and quantitative sensory testing in neuropathy of impaired glucose regulation. MuscleNerve. 2009; 39(4):529-35
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. LancetNeurol. 2011;10(12):1086-97
Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952; 75 (3): 408-27
Conceição I. Clinical features of TTR-FAP in Portugal. Amyloid, 2012; 19(S1): 71-72
Kim DH, Zeldenrust SR, Low PA, Dyck PJ. Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. Muscle Nerve. 2009; 40 (3): 363-70
Lacomis D. Small-fiber neuropathy. MuscleNerve, 2002; 26: 173-188
Raman R, Gupta A, Krishna S, Kulothungan V, Sharma T. Prevalence and risk factors for diabetic microvascular complications in newly diagnosed type II diabetes mellitus. Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN-DREAMS, report 27). J Diabetes Complications. 2012; 26(2):123-8
Cruccu G, Sommer C, Anand P, Attal N, Baron R, Garcia-Larrea L, Haanpaa M, Jensen TS, Serra J, Treede RD. EFNS guidelines on neuropathic pain assessment: revised 2009. Eur J Neurol. 2010;17 (8):1010-8
Tavee J, Zhou L. Small fiber neuropathy: A burning problem. CleveClin J Med. 2009; 76(5):297-305. Review
Schmelz M, Schmidt R. Microneurographic single-unit recordings to assess receptive properties of afferent human C-fibers. Neurosci Lett. 2010;470(3):158-61
Hlubocky A, Wellik K, Ross MA, Smith BE, Hoffman-Snyder C, Demaerschalk BM, Wingerchuk DM. Skin biopsy for diagnosis of small fiber neuropathy: a critically appraised topic. Neurologist. 2010;16(1):61-3
Devigili G, Tugnoli V, Penza P, Camozzi F, Lombardi R, Melli G, Broglio L, Granieri E, Lauria G. The diagnostic criteria for small fiber neuropathy: from symptoms to neuropathology. Brain. 2008;131(Pt 7):1912-25
Sousa A Sousa A, Coelho T, Barros J, Sequeiros J. Anticipation in familial amyloid neuropathy type I (FAP-I): the possible role of a genetic modifier. J Neurol 1995;S1:48
Planté-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. CurOpinNeurol, 2000; 13: 569-573
Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36(4):411-23. Review
England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ; American Academy of Neurology; American Association of Neuromuscular and Electrodiagnostic Medicine; American Academy of Physical Medicine and Rehabilitation. Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). MuscleNerve. 2009;39(1):106-15
Low VA, Sandroni P, Fealey RD, Low PA. Detection of small-fiber neuropathy by sudomotor testing. MuscleNerve. 2006; 34: 57-61
Conceição IM, Castro JF, Scotto M, De Carvalho M. Neurophysiological markers in familial amyloid polyneuropathy patients: Early changes. ClinNeuropysiol. 2008; 119: 1082-1087
Siao P, Chong T, Cros DP. Quantitative sensory testing equipment and reproducibility studies. American association of electrodiagnostic medicine. Review
Shy ME, Frohman EM, So YT, Arezzo JC, Cornblath DR, Giuliani MJ, Kincaid JC, Ochoa JL, Parry GJ, Weimer LH; Therapeutics and TechnologyAssessment Subcommittee of the American Academy of Neurology. Quantitative sensory testing: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology. 2003; 60(6):898-904
Holland NR. Idiopathic painful sensory neuropathy. J Clin Neuromuscul Dis.2001; 2(4):211-20
Vinik EJ, Hayes RP, Oglesby A, Bastyr E, Barlow P, Ford-Molvik SL, Vinik AI.The development and validation of the Norfolk QOL-DN, a new measure of patients' perception of theeffects of diabetes and diabetic neuropathy. Diabetes TechnolTher. 2005;7(3):497-508
Herman WH, Pop-Busui R, Braffett BH, Martin CL, Cleary PA, Albers JW, Feldman EL; DCCT/EDIC Research Group. Use of the Michigan Neuropathy Screening Instrument as a measure of distal symmetrical peripheral neuropathy in Type 1 diabetes: results from the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications. DiabetMed. 2012; 29(7):937-44
Singleton JR, Bixby B, Russell JW, Feldman EL, Peltier A, Goldstein J, Howard J, Smith AG. The Utah Early Neuropathy Scale: a sensitive clinical scale for early sensory predominant neuropathy. J PeripherNervSyst. 2008;13(3):218-27
Rolke R, Baron R, Maier C, Tölle TR, Treede RD, Beyer A, Binder A, Birbaumer N, Birklein F, Bötefür IC, Braune S, Flor H, Huge V, Klug R, Landwehrmeyer GB, Magerl W, Maihöfner C, Rolko C, Schaub C, Scherens A, Sprenger T, Valet M, Wasserka B. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values. Pain. 2006;123(3):231-43
Magerl W, Krumova EK, Baron R, Tölle T, Treede RD, Maier C. Reference data for quantitative sensory testing (QST): refined stratification forage and a novel method for statistical comparison of group data. Pain. 2010;151(3):598-605
Rolke R, Magerl W, Campbell KA, Schalber C, Caspari S, Birklein F, Treede RD. Quantitative sensory testing: a comprehensive protocol for clinical trials. Eur J Pain. 2006;10(1):77-88
Dick PJ, Dyck PJB, Velosa JA, Larson TS, O ́Brien PC, Th enerve growth factor study group. Patterns of quantitative sensation testing of hypoesthesia and hiperalgesia are predictive of diabetic polyneuropathy. Diabetes Care. 2000; 23: 510-517
Dick PJ, Litchy WJ, Lehamn KA, Hokanson JL, Low PA, O ́Brien PC. Variables influencing neuropathic endpoints: The Rochester Diabetic Neuropathy Study of Healthy Subjects. Neurology. 1995; 45: 1115-1121
Peltier A, Smith AG, Russell JW, Sheikh K, Bixby B, Howard J, Goldstein J, Song Y, Wang L, Feldman EL, Singleton JR. Reliability of quantitative sudomotor axon reflex testing and quantitative sensory testing in neuropathy of impaired glucose regulation. MuscleNerve. 2009; 39(4):529-35
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Introducción La mutación genética Val30Met de la proteína transtiretina (TTR) es causante de la polineuropatía amiloidótica familiar, comprometiendo en fases iniciales las fibras nerviosas pequeñas (mielinizadas Aδ y amielínicas tipo C), inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd5365d1ee1459108952fd6cb28c2a83
Autor:
Bosch Rovira, Teresa
Publikováno v:
TDX (Tesis Doctorals en Xarxa)
TDR. Tesis Doctorales en Red
instname
TDR. Tesis Doctorales en Red
instname
OBJETIVOS:Conocer la epidemiología global de los familiares consanguíneos del foco balear de la Polineuropatía amiloidótica familiar (PAF) y en especial de los portadores asintomáticos.MATERIAL Y MÉTODOS:Estudio descriptivo desde principios del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::478da1b9fb5f4fd1014465ae0237e3eb
http://www.tdx.cat/TDX-0331109-125541
http://www.tdx.cat/TDX-0331109-125541
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Autor:
Silva-Hernández L; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain. Electronic address: lorenzo.silvaher@gmail.com., Horga Hernández A; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain., Valls Carbó A; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain., Guerrero Sola A; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain., Montalvo-Moraleda MT; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain., Galán Dávila L; Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain.
Publikováno v:
Neurologia [Neurologia (Engl Ed)] 2023 Mar; Vol. 38 (2), pp. 87-92. Date of Electronic Publication: 2022 Nov 15.
Autor:
Silva-Hernández L; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España. Electronic address: lorenzo.silvaher@gmail.com., Horga Hernández A; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España., Valls Carbó A; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España., Guerrero Sola A; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España., Montalvo-Moraleda MT; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España., Galán Dávila L; Servicio de Neurología, Hospital Clínico San Carlos, Madrid, España.
Publikováno v:
Neurologia [Neurologia (Engl Ed)] 2020 Sep 04. Date of Electronic Publication: 2020 Sep 04.
Autor:
Marcacuzco Quinto AA; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España. Electronic address: alejandro_mq@yahoo.es., Manrique Municio A; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Jimenez Romero LC; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Loinaz Segurola C; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Calvo Pulido J; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Justo Alonso I; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Garcia-Sesma Perez-F A; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Abradelo de Usera M; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Cambra Molero F; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Caso M O; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España., Moreno Gonzalez E; Servicio de Cirugía General C y Trasplante de Órganos Abdominales, Hospital Universitario 12 de Octubre, Madrid, España.
Publikováno v:
Medicina clinica [Med Clin (Barc)] 2015 May 08; Vol. 144 (9), pp. 385-8. Date of Electronic Publication: 2014 Apr 18.