Results 31 to 40 of about 2,353 (157)

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

Ultra High‐Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross‐Sectional Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Transthyretin amyloidosis (ATTR), including hereditary (hATTR) and wild‐type (wtATTR), often presents initially as carpal tunnel syndrome (CTS), often preceding systemic symptoms by several years. Ultra high‐resolution ultrasound (UHRUS) offers detailed visualization of peripheral nerve morphology, but its application in ATTR‐
Rachana K. Gandhi Mehta, Nicholas Miller, Michael S. Cartwright, Rebecca Traub, Joni Evans   +4 more
wiley   +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

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

Navigating the cholesterol maze: Key insights on use of statins in neurodegenerative disorders

Neuroprotection, EarlyView.
The graphical abstract encapsulates the dual neuroprotective mechanisms of statins in neurodegenerative diseases, highlighting both cholesterol‐dependent and cholesterol‐independent pathways. By inhibiting 3‐hydroxy‐3‐methylglutaryl coenzyme A (HMG‐CoA) reductase, statins reduce cholesterol synthesis, leading to altered lipid raft structures that ...
Jun Han Kuan, Roshan S. Raghavan, Dawn Li Wei Koh, Wing Yeng Tan, Igor Iezhitsa, Renu Agarwal   +5 more
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +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  

Rate of MGUS Progression to Haematological Malignancies: A Systematic Review

European Journal of Haematology, EarlyView.
ABSTRACT Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic pre‐cancerous condition that precedes plasma cell dyscrasias, including multiple myeloma (MM). Current clinical guidelines report that MGUS's rate of malignant progression to haematological malignancy (HM) is ~1% per year; however, reported rates have varied widely ...
Stephen James Quinn, Chris Cardwell, Lesley Ann Anderson, Charlene McShane   +3 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source