Results 31 to 40 of about 212,673 (267)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Reversibility of ventricular dysfunction: clinical experience in a medical office

Arquivos Brasileiros de Cardiologia, 2001
OBJECTIVE - To describe clinical observations of marked improvement in ventricular dysfunction in a medical office environment under circumstances differing from those in study protocols and multicenter studies performed in hospital or with outpatient ...
Antonio Carlos Pereira Barretto
doaj   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Early Onset Lyme Myopericarditis With Left Ventricular Dysfunction and Mitral Regurgitation

Journal of Investigative Medicine High Impact Case Reports, 2021
Lyme carditis is a rare manifestation of early disseminated Lyme disease with an incidence of 0.5% with left ventricular dysfunction and valvular involvement being exceedingly rare.
Muhammad B. Malik MD, Amarah Baluch MD, Soumya Adhikari MBBS, Sahir Quraeshi MD, Suman Rao MD   +4 more
doaj   +1 more source

Subclinical left ventricular dysfunction in COVID-19

International Journal of Cardiology: Heart & Vasculature, 2021
Background: Coronavirus Disease-2019 (COVID-19) is associated with cardiovascular injury, but left ventricular (LV) function is largely preserved. We aimed to evaluate for subclinical LV dysfunction in patients with COVID-19 through myocardial strain ...
Harpreet S. Bhatia, Quan M. Bui, Kevin King, Anthony DeMaria, Lori B. Daniels   +4 more
doaj   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

The use of NT-proBNP in clinical practice

South African Family Practice, 2004
Early detection of heart failure and the accurate diagnosis of heart failure remains a huge clinical challenge to family practitioners. ECGs and chest x-rays merely serve as baseline investigations and the diagnosis is eventually only confirmed by a two ...
J.A. Ker
doaj   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen, Ali Behram Salar, Abdulkadir Ermis, Erkingul Birday, Lutfu Hanoglu, Bayram Ufuk Sakul   +5 more
wiley   +1 more source

Biomaterial Strategies for Targeted Intracellular Delivery to Phagocytes

Advanced Functional Materials, EarlyView.
Phagocytes are essential to a functional immune system, and their behavior defines disease outcomes. Engineered particles offer a strategic opportunity to target phagocytes, harnessing inflammatory modulation in disease. By tuning features like size, shape, and surface, these systems can modulate immune responses and improve targeted treatment for a ...
Kaitlyn E. Woodworth, Neal I. Callaghan, Locke Davenport Huyer   +2 more
wiley   +1 more source

Value of the radiological study of the thorax for diagnosing left ventricular dysfunction in Chagas' disease

Arquivos Brasileiros de Cardiologia, 2003
OBJECTIVE: To determine the value of the radiological study of the thorax for diagnosing left ventricular dilation and left ventricular systolic dysfunction in patients with Chagas' disease.
Perez Amanda Arantes, Ribeiro Antonio Luiz Pinho, Barros Márcio Vinícius Lins, Sousa Marcos Roberto de, Bittencourt Roberto José, Machado Fernando Santana, Rocha Manoel Otávio Costa   +6 more
doaj