Results 51 to 60 of about 61,872 (307)

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report

Journal of Medical Case Reports, 2017
Background Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy.
Benjamin Terrier, Magali Colombat, Caroline Beugnet, Astrid Quéant, Jonathan London, Jean-Baptiste Daudin, Claire Le Jeunne, Luc Mouthon, Dominique Monnet, Cécile Cauquil, Catherine Lacroix, David Adams, Antoine Brézin, Sophie Valleix   +13 more
doaj   +1 more source

Wild-Type Transthyretin Amyloidosis Complicated by Alveolar Hypoventilation due to Diaphragmatic Dysfunction. [PDF]

Respirol Case Rep
We report the first case of alveolar hypoventilation due to diaphragmatic dysfunction in ATTRwt. Chest radiographs show little change in the height of the diaphragm during expiration (A) and inspiration (B). Ultrasound evaluation shows minimal diaphragmatic thickening during inspiration. ABSTRACT We report a case of wild‐type transthyretin amyloidosis (
Aoyama M, Takezawa R, Arai R, Hattori S, Nakano T, Nakano M, Sano M, Shigemitsu H, Kuwahira I.   +8 more
europepmc   +2 more sources

Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6. [PDF]

, 2015
Vitamin A has biological functions as diverse as sensing light for vision, regulating stem cell differentiation, maintaining epithelial integrity, promoting immune competency, regulating learning and memory, and acting as a key developmental morphogen ...
Kassai, Miki, Kawaguchi, Riki, Sun, Hui, Ter-Stepanian, Mariam, Zhong, Ming   +4 more
core   +2 more sources

Transthyretin cardiac amyloidosis

Cardiovascular Research, 2022
Transthyretin cardiac amyloidosis (ATTR-CA) is an increasingly recognized cause of heart failure (HF) and mortality worldwide. Advances in non-invasive diagnosis, coupled with the development of effective treatments, have shifted ATTR-CA from a rare and ...
A. Porcari, M. Fontana, J. Gillmore
semanticscholar   +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

Optimal combinations of acute phase proteins for detecting infectious disease in pigs [PDF]

, 2011
Peer reviewedPublisher ...
Campbell, Fiona Margaret, Carpintero, Rakel, Eckersall, P. David, Gruys, Erik, Heegaard, Peter M. H., Lampreave, Fermin, Piñeiro, Matilde, Skall Sorensen, Nanna, Stockmarr, Anders, Toussaint, Mathilda J.M.   +9 more
core   +4 more sources

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Journal of Neurology Neurosurgery & Psychiatry, 2022
Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes.
Antonia S Carroll, P. Dyck, M. de Carvalho, M. Kennerson, M. Reilly, M. Kiernan, S. Vucic   +6 more
semanticscholar   +1 more source

A machine learning model for identifying patients at risk for wild-type transthyretin amyloid cardiomyopathy

Nature Communications, 2021
Transthyretin amyloid cardiomyopathy is a treatable but often unrecognized cause of heart failure. We derived and validated a machine learning model based on medical diagnostic codes that identifies heart failure patients at risk for wild-type ...
Ahsan Huda, Adam Castaño, Anindita Niyogi, Jennifer Schumacher, Michelle Stewart, Marianna Bruno, Mo Hu, Faraz S. Ahmad, Rahul C. Deo, Sanjiv J. Shah   +9 more
doaj   +1 more source

Domino living donor liver transplantation of familial amyloid polyneuropathy patient - A case report - [PDF]

Anesthesia and Pain Medicine, 2020
Background Familial amyloid polyneuropathy (FAP) is caused by mutation in a gene transcribing transport protein produced mainly by the liver. Liver transplantation is required to stop FAP progression, but the pathology causes anesthetic management ...
Sungrok Cha, Jiwon Kim, Soo Joo Choi, Gaab Soo Kim   +3 more
doaj   +1 more source

Prediction of Cardiac Transthyretin Amyloidosis: Electrocardiographic Parameters and the Ratio of Posterior Wall Thickness to the Minimum QRS Complex Voltage in Limb Leads. [PDF]

Biomedicines
Gawor-Prokopczyk M, Lipowska M, Sioma A, Chrustowicz A, Henzel J, Grzybowski J, Szczygieł J, Wójcik A, Konka M, Kowalik E, Teresińska A, Mazurkiewicz Ł.   +11 more
europepmc   +3 more sources