Results 21 to 30 of about 141,957 (168)

Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement

Frontiers in Cardiovascular Medicine, 2023
Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man
Emanuele Micaglio, Gloria Santangelo, Silvia Moscardelli, Daniela Rusconi, Francesco Musca, Alessandro Verde, Laura Campiglio, Francesca Bursi, Marco Guazzi   +8 more
doaj   +1 more source

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study

Orphanet Journal of Rare Diseases, 2020
Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho, João Costa   +5 more
doaj   +1 more source

Cryo-EM structure of an ATTRwt amyloid fibril from systemic non-hereditary transthyretin amyloidosis

, 2022
Wild type transthyretin-derived amyloid (ATTRwt) is the major component of non-hereditary transthyretin amyloidosis. Its accumulation in the heart of elderly patients is life threatening.
Schönland, Stefan, Steinebrei, Maximilian, Hegenbart, Ute, Schmidt, Matthias, Baur, Julian, Röcken, Christoph, Gottwald, Juliane   +6 more
core   +1 more source

The clinical use of the MOGE(S) classification in the differential diagnosis between idiopathic hypertrophic cardiomyopathy and its phenocopies

Российский кардиологический журнал, 2019
Aim. To determine  the relation between  idiopathic hypertrophic  cardiomyopathy (HCM) and HCM phenocopies, as well as to study the etiological pattern  of HCM phenocopies in patients  of the  North-Western  region  of Russia  in different age groups ...
A. Poliakova, A. Krutikov, E. Semernin, A. Kostareva, A. Gudkova   +4 more
doaj   +1 more source

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

, 2021
Background Hereditary transthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene.
Sweetser, Marianne T., Attarian, Shahram, Brannagan, Thomas H., Coelho, Teresa, Mauricio, Elizabeth, Kristen, Arnt, Dispenzieri, Angela, Wixner, Jonas,, Wixner, Jonas, Adams, David, Schmidt, Hartmut H., Berk, John L., Brannagan, Thomas H., III, Kyriakides, Theodoros, Quan, Dianna, Kristen, Arnt, V, Mezei, Michelle M., Slama, Michel S., Ueda, Mitsuharu, Vest, John, Aldinc, Emre, Losada Lopez, Ines Asuncion, Berber, Erhan, Pedrosa-Domellöf, Fatima,, White, Matthew T., Conceicao, Isabel M., Ajroud-Driss, Senda, Plante-Bordeneuve, Violaine, Gonzalez-Duarte, Alejandra, Polydefkis, Michael, Wang, Jing Jing, Gillmore, Julian D., Waddington-Cruz, Marcia   +32 more
core   +1 more source

Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: Current perspectives on improving patient care [PDF]

, 2020
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of ...
Sabatelli M., Bisogni G, Sabatelli M, Luigetti M, Luigetti M., Romano A, Di Paolantonio A   +6 more
core   +1 more source

Leptomeningeal amyloidosis: features of the clinical picture (clinical observation)

Неврология, нейропсихиатрия, психосоматика, 2022
Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type of transmission and a heterogeneous clinical picture, which depends on the type of transthyretin gene mutation.
E. I. Safiulina, O. E. Zinovieva, N. S. Shcheglova, V. V. Rameev, Z. V. Surnina, E. N. Nikitina, O. A. Vorobieva   +6 more
doaj   +1 more source

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing AmyloidosisNovel Teaching Points

CJC Open, 2022
Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or ...
Ammar G. Chaudhary, MBChB, FRCPC, Fadi M. AlReefi, MD, Riad G. Abou Zahr, MD, FSCMR, Hossam A. Elzeftawy, MD, Saleh S. Alghamdi, MD, Areej A. Bushnag, MD, Jaudah A. Al-Maghrabi, MD, MSc, FRCPC, Iman S. Abumansour, MD   +7 more
doaj   +1 more source

Gateway and journey of patients with cardiac amyloidosis

ESC Heart Failure, 2020
Aims Advances have been made over the last decade in the management of cardiac amyloidosis (CA), but a delayed diagnosis is still common. The aim of this study was to describe the journey to CA diagnosis from initial clinical and to analyse time to ...
Daniel Dang, Pauline Fournier, Eve Cariou, Antoine Huart, David Ribes, Pascal Cintas, Murielle Roussel, Magali Colombat, Yoan Lavie‐Badie, Didier Carrié, Michel Galinier, Olivier Lairez   +11 more
doaj   +1 more source

Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis [PDF]

, 2023
Amyloidosis includes a heterogeneous group of diseases caused by the extracellular deposition of insoluble fibrillar proteins, leading to multiple organ dysfunction and a poor life expectancy.
Dell'Era, Alessandra, Toppeta, Angelica, Ardizzone, Sandro, Molteni, Paola   +3 more
core   +1 more source