Results 181 to 190 of about 39,959 (306)
ABSTRACT Introduction/Aims Transthyretin amyloidosis (ATTR), including hereditary (hATTR) and wild‐type (wtATTR), often presents initially as carpal tunnel syndrome (CTS), often preceding systemic symptoms by several years. Ultra high‐resolution ultrasound (UHRUS) offers detailed visualization of peripheral nerve morphology, but its application in ATTR‐
Rachana K. Gandhi Mehta +4 more
wiley +1 more source
Non-sensorimotor symptoms in chronic inflammatory demyelinating polyneuropathy. [PDF]
Klostermann F, Steiner OL.
europepmc +1 more source
Demyelinating Leprosy Neuropathy: An Unusual and Misleading Electrophysiological Pattern
ABSTRACT Introduction/Aims Peripheral neuropathy, especially mononeuropathy multiplex, is a frequent manifestation of leprosy. Electrodiagnostic studies (EDX) usually show predominant axonal involvement. In this study, we report patients with prominent demyelinating abnormalities consistent with the diagnosis of chronic inflammatory demyelinating ...
Cendrine Foucard +4 more
wiley +1 more source
PGVDA: a pathway-aggregated genetic dosage framework for interpretable disease classification using machine learning. [PDF]
Shon S, Ko Y, Yoon H, Kwak K, Lee H.
europepmc +1 more source
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Acute Urinary Retention and Guillain-Barré Syndrome: A Zebra or a Horse. [PDF]
Klinkhammer M, Kaur N, Wyant J.
europepmc +1 more source
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian +3 more
wiley +1 more source
Patient-Reported Outcome Measures for Assessing Health-Related Quality of Life in Patients With Polyneuropathies, Focusing on Guillain-Barré Syndrome and Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review of Measurement Properties. [PDF]
Pelouto F +5 more
europepmc +1 more source
Polyneuropathy is characterized by simultaneous bilateral symmetrical involvement of peripheral nerves. Clinical features in fully-developed cases are paresthesias, irregular 'glove and stocking' cutaneous sensory loss, loss of deep sensations, weakness of distal muscles of extremities, and absent deep tendon reflexes.
openaire +1 more source

