Results 31 to 40 of about 2,447 (165)

Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients [PDF]

BMC Gastroenterology, 2009
It has been demonstrated in many studies that quality of life can be improved after liver transplantation in patients with liver disease. Nevertheless, quality of life improvement in specific groups of transplanted patients such as those with Familial Amyloid Polyneuropathy has not yet been explored.
Mega Inês, Barbosa António, Cortez-Pinto Helena, Telles-Correia Diogo, Monteiro Estela   +4 more
openaire   +3 more sources

Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

, 2016
Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions,
Wang, X, Zhou, X, Chen, S, Wang, B, Sham, PC, Liu, L, Zhang, X, Zhu, G, Wang, J, Yang, J, Li, T, Chen, H, Wu, S   +12 more
core   +1 more source

Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: Case report [PDF]

Liver Transplantation, 2010
Transthyretin amyloid polyneuropathy, caused by mutations in the transthyretin gene, is a progressive condition for which liver transplantation is an established treatment. Favorable outcomes have been described in patients with the most common transthyretin mutation, Val30Met, but outcomes have been variable in patients with ...
Muller, K., Padbury, R., Jeffrey, G., Poplawski, N., Thompson, P., Tonkin, A., Harley, H.   +6 more
openaire   +3 more sources

Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)

Rare
Aims: We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres.
Thibaud Damy, Erwan Donal, Olivier Lairez, Jean-Christophe Eicher, Mounira Karoubi, Jean-Noël Trochu, Jocelyn Inamo, Gilbert Habib, François Roubille, Albert Hagège, Flore Morio, Eve Cariou, Jérôme Adda, Vincent Algalarrondo, Agathe Coste, Mathilde Bartoli, Jérémie Rudant, Lara Salvi, Bruno Francou, Anne Guiochon-Mantel, David Adams, Jean-Christophe Antoine, Shahram Attarian, Pascal Cintas, Raul Juntas Morales, Emmeline Lagrange, Laurent Magy, Martial Mallaret, Yann Péréon, Philippe Petiot, Cécile Cauquil, Céline Labeyrie, Andoni Echaniz-Laguna, Guilhem Sole, Céline Tard, Silvia Oghina, Philippe Charron, Michel Slama   +37 more
doaj   +1 more source

Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro

Arquivos de Neuro-Psiquiatria
Background Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and ...
Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz   +9 more
doaj   +1 more source

Disorders of peripheral nerves

, 2015
Peripheral neuropathies are heritable or acquired. A.Heritable defects, among others: 1.Chronic hereditary motor-sensory neuropathies (HMSN alias Charcot-Marie-Tooth), hereditary motor-sensory neuropathies (HMSN), hereditary sensory and autonomic ...
Giampietro Zanette, FABRIZI, Gian Maria, Zanette, G. P. ., Gian Maria Fabrizi   +3 more
core   +1 more source

Impairing the Mitochondrial Fission and Fusion Balance: A New Mechanism of Neurodegeneration

, 2008
Mitochondrial dysfunction is a common characteristic of all neurodegenerative diseases. However, the cause of this dysfunction remains a mystery. Here, we discuss the potential role of mitochondrial fission and fusion in the onset and progression of ...
Ella Bossy-Wetzel, Knott, Andrew B., Bossy-Wetzel, Ella, Andrew B. Knott   +3 more
core   +1 more source

Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report

Iranian Journal of Medical Sciences, 2016
Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves.
Arash Babaei-Ghazani, Bina Eftekharsadat   +1 more
doaj  

Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy [PDF]

Amyloid, 2010
We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic ...
Kana Tojo, Ayako Tsuchiya-Suzuki, Yoshiki Sekijima, Hiroshi Morita, Naoko Sumita, Shu-Ichi Ikeda   +5 more
openaire   +1 more source

Фенотипическая гетерогенность и особенности диагностики транстиретинового амилоидоза с полинейропатией

, 2021
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic progressive fatal disease, for which a modifying therapy has recently been proposed that delays the progression of the disease and improves the patient’s quality of life.
D. A. Grishina, T. A. Adyan, I. V. Zhirov, Н. А. Супонева, S. N. Bardakov, С. С. Никитин, Д. А. Гришина, S. S. Nikitin, R. V. Deev, Т. А. Адян, И. В. Жиров, С. Н. Бардаков, N. A. Suponeva, Р. В. Деев   +13 more
core   +1 more source