Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F.+4 more
core +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
Patients with spinal cord injury 4–8 weeks back presenting for non-spinal elective surgery, present a unique challenge to the anesthesiologist. The perioperative concerns include potential for perioperative autonomic hypereflexia, muscle spasms ...
Bharti Wadhwa+2 more
doaj +1 more source
Mechanical Orthosis Mechanism to Facilitate the Extension of the Leg [PDF]
This paper presents the design of a mechanism to help people using mechanical orthoses to extend their legs easily and lock the knee joint of their orthosis. Many people living with spinal cord injury are living with paraplegia and thus need orthoses to be able to stand and walk. Mechanical orthoses are common types of orthopedic devices.
arxiv
Decoding of the Walking States and Step Rates from Cortical Electrocorticogram Signals [PDF]
Brain-computer interfaces (BCIs) have shown promising results in restoring motor function to individuals with spinal cord injury. These systems have traditionally focused on the restoration of upper extremity function; however, the lower extremities have received relatively little attention.
arxiv
Nonlinear modeling of FES-supported standing-up in paraplegia for selection of feedback sensors [PDF]
This paper presents analysis of the standing-up manoeuvre in paraplegia considering the body supportive forces as a potential feedback source in functional electrical stimulation (FES)-assisted standing-up.
Bajd, T.+3 more
core +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee+19 more
wiley +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
Reduction of Prolonged Excessive Pressure in Seated Persons With Paraplegia Using Wireless Lingual Tactile Feedback: A Randomized Controlled Trial [PDF]
Pressure ulcers (PU) are known to be a high-cost disease with a risk of severe morbidity. This work evaluates a new clinical strategy based on an innovative medical device (Tongue Display Unit-TDU) that implements perceptive supplementation in order to reduce prolonged excessive pressure, recognized as one of the main causes of PU.
arxiv +1 more source
Acute Paraplegia after General Anesthesia [PDF]
Acute paraplegia is a rare but catastrophic complication of surgeries performed on aorta and corrective operations of vertebral column. Trauma to spinal cord after spinal anesthesia and ischemia of spinal cord also may lead to acute paraplegia.
Siamak Afshinmajd+7 more
doaj +1 more source