Results 131 to 140 of about 90,332 (308)

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis

Scientific Reports
In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type transthyretin amyloidosis (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well.
Helena F. Pernice, Adrian L. Knorz, Paul J. Wetzel, Carolin Herrmann, Harisa Muratovic, Finn Rieber, Eleonora Asaad, Gunnar Fiß, Gina Barzen, Elisabeth Blüthner, Fabian Knebel, Sebastian Spethmann, Daniel Messroghli, Bettina Heidecker, Anna Brand, Christoph Wetz, Carsten Tschöpe, Katrin Hahn   +17 more
doaj   +1 more source

Prognostic implications of right ventricular to pulmonary artery uncoupling in cardiac amyloidosis

Frontiers in Cardiovascular Medicine
BackgroundRight ventricular–pulmonary arterial (RV–PA) uncoupling in cardiac amyloidosis (CA) has been underexplored, with focus mainly on tricuspid annular plane systolic excursion (TAPSE)/pulmonary artery systolic pressure (PASP).
Aiste Monika Jakstaite, Aiste Monika Jakstaite, Anja Hänselmann, Anja Hänselmann, Samira Soltani, Samira Soltani, Eleonora Angelini, Eleonora Angelini, Michael Heuser, Michael Heuser, Michael Heuser, Vega Gödecke, Vega Gödecke, Stefan Gingele, Stefan Gingele, Thomas Skripuletz, Thomas Skripuletz, Johann Bauersachs, Johann Bauersachs, Udo Bavendiek, Udo Bavendiek, Dominik Berliner, Dominik Berliner   +22 more
doaj   +1 more source

Cardiac Amyloidosis

Heart Views, 2021
Salah Elbdri, Rachel Hajar
openaire   +3 more sources

Atrial fibrillation in the setting of cardiac amyloidosis - A review of the literature.

Cardiac amyloidosis (CA) is related to the aggregation of insoluble fibrous deposits of misfolded proteins within the myocardium. Transthyretin amyloidosis (ATTR) and immunoglobulin light-chain amyloidosis are the main forms of CA.
Letsas, Konstantinos P, Tse, Gary, Sfairopoulos, Dimitrios, Stavrakis, Stavros, Saplaouras, Athanasios, Liu, Tong, Thomopoulos, Costas, Korantzopoulos, Panagiotis, Yiannikourides, Andronicos, Bazoukis, George, Efthymiou, Polyxeni, Varrias, Dimitrios   +11 more
core   +1 more source

Adequacy of Single Random Skin Biopsy With Subcutaneous Sampling for the Diagnosis of Intravascular Lymphoma

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Background Random skin biopsy (RSB) is a valuable method for diagnosis of intravascular lymphoma (IVL). Previous studies have performed RSB at multiple locations. This study aimed to evaluate the adequacy of a single RSB site and the appropriate depth of the biopsies for diagnosing IVL. Methods The study included 209 patients who underwent RSB
Phitsinee Purngpiputtrakul, Panitta Sitthinamsuwan, Sanya Sukpanichnant, Penvadee Pattanaprichakul, Manasmon Chairatchaneeboon, Yingyong Chinthammitr, Pochamana Phisalprapa   +6 more
wiley   +1 more source

Stringent patient selection improves outcomes in systemic light-chain amyloidosis after autologous stem cell transplantation in the upfront and relapsed setting

Haematologica, 2014
Christopher P. Venner, Julian D. Gillmore, Sajitha Sachchithanantham, Shameem Mahmood, Thirusha Lane, Darren Foard, Murielle Roussel, Lisa Rannigan, Simon DJ Gibbs, Jennifer H Pinney, Carol J. Whelan, Helen J. Lachmann, Philip N. Hawkins, Ashutosh D. Wechalekar   +13 more
doaj   +1 more source

An Atypical Skin Presentation of Adult‐Onset Still's Disease With Histological Description: A Case Report

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Adult‐onset Still's disease (AOSD) is an auto inflammatory disorder with a variable clinical presentation, and without a pathognomonic diagnostic test, characterized by high spiking fever, arthralgia/arthritis, a suggestive skin rash, elevated white blood cell count 10 G/L (> 80% neutrophils), elevated ferritin, with glycosylated ferritin < 20%
M. Nordmann, T. Mazza, S. Menzinger, G. Kaya, S. Bogiatzi, S. Vandenberghe‐Dürr, M. Blanchard, J. Stirnemann   +7 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Nutritional Status of Outpatients with Al Systemic Amyloidosis

, 2004
This volume contains 179 chapters by international experts on recent developments in our understanding of amyloid proteins, protein folding disorders, and new and proposed clinical trials in amyloidosis.
Vagia, C, Caccialanza, R, CENA, HELLAS, MERLINI, GIAMPAOLO, PALLADINI, GIOVANNI, ROGGI, CARLA   +5 more
core   +1 more source