Results 41 to 50 of about 21,545 (230)

A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

Терапевтический архив, 2023
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes.
Olga S. Chumakova, Svetlana N. Nasonova, Yulia V. Frolova, Elena A. Stepanova, Elena A. Mershina, Valentin E. Sinitsyn, Dmitry A. Zateyshchikov, Igor V. Zhirov   +7 more
doaj   +1 more source

Corino de Andrade disease: mechanisms and impact on reproduction [PDF]

, 2017
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A., Coelho, T., Lopes, R., Sousa, M.   +3 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

Left Bundle Branch Pacing in Transthyretin Cardiac Amyloidosis and Alternating Bundle Branch Block

JACC: Case Reports, 2020
Progressive conduction system disease affects patients with transthyretin cardiac amyloidosis, often requiring permanent pacing as the His-Purkinje system is affected. We present a case of left bundle branch pacing in a patient with transthyretin cardiac
Taha Ahmed, MD, Samra Haroon Lodhi, MBBS, Hassan Lak, MD, Jae Lee, MD, Mazen Hanna, MD, Roy Chung, MD   +5 more
doaj   +1 more source

Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures [PDF]

, 2016
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies ...
Buxbaum, J., Coelho, T., Gelbart, T., Kelly, J., Kurian, S., Novais, M., Salomon, D., Whisenant, T.   +7 more
core   +1 more source

Urinary Biomarkers for Kidney Disease in ATTR Amyloidosis [PDF]

, 2014
Aim: The detection and prognosis of nephropathy in transthyretin amyloidosis depends on albuminuria and renal function. Knowing that urinary levels of alpha-1 microglobulin and beta-2 microglobulin reflect tubular dysfunction while urinary alpha-2 ...
Beirão, I., Bravo, F., Lobato, L., Oliveira, J., Rocha, A., Vizcaíno, J.   +5 more
core   +1 more source

Synthesis and structural analysis of the N-terminal domain of the thyroid hormone-binding protein transthyretin [PDF]

, 2002
Transthyretin (TTR) is a 55 kDa protein responsible for the transport of thyroid hormones and retinol in human serum. Misfolded forms of the protein are implicated in the amyloid diseases familial amyloidotic polyneuropathy and senile systemic ...
Hamilton JA, Hamilton JA, Jacobson DR, Jarvis JA, Nilsson SF, Saraiva MJ, Schnolzer M, Terry CJ, Thylen C, Wojtczak A   +9 more
core   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Lacrimal Gland Amyloidosis in an Elderly Patient

Case Reports in Ophthalmology, 2020
Localized amyloidosis of the lacrimal gland is a rare disease. We report a case of transthyretin-positive localized amyloidosis of the lacrimal gland in a 74-year-old man with left lacrimal gland swelling.
Toshiya Nagai, Tatsuya Yunoki, Atsushi Hayashi   +2 more
doaj   +1 more source

Progression and prognostic significance of electrocardiographic findings in patients with cardiac amyloidosis

ESC Heart Failure, Volume 12, Issue 2, Page 809-818, April 2025.
Abstract Aims This study aimed to evaluate the change of the main electrocardiographic (ECG) characteristics and their prognostic role across the main subtypes of cardiac amyloidosis [light‐chain amyloidosis (AL) and hereditary (ATTRv) and wild‐type transthyretin amyloidosis (ATTRwt)].
Alessia Argirò, Mattia Zampieri, Carlotta Mazzoni, Carlo Fumagalli, Michela Baccini, Alessandra Mattei, Alberto Cipriani, Laura De Michieli, Aldostefano Porcari, Gianfranco Sinagra, Marco Merlo, Giacomo Tini, Beatrice Musumeci, Domitilla Russo, Pier Filippo Vianello, Marco Canepa, Roberto Licordari, Gianluca di Bella, Claudio Rapezzi, Federico Perfetto, Francesco Cappelli   +20 more
wiley   +1 more source