BACKGROUND Metachromatic Leukodystrophy (MLD) is a rare, fatal demyelinating disorder with limited treatment options. Published outcomes after hematopoietic stem cell transplantation (HSCT) are scant and mixed. We report survival and function following HSCT for a large, single-center MLD cohort. METHODS Transplant-related data, survival and serial measures (brain MRI, nerve conduction velocit...

which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Electrodiagnostic tests are electrical technologies for evaluating the body's neurophysiology and used as a complementary method for diagnosing the neuro-muscular disorders. These tests are commonly used to diagnosis these disorders: Anterior horn cell disease, Muscular di...

We studied variation in peripheral nerve conduction velocity (PNCV) and intelligence in a group of 16-year-old Dutch twins. It has been suggested that both brain nerve conduction velocity and PNCV are positively correlated with intelligence (Reed, 1984) and that heritable differences in NCV may explain part of the well established heritability of intelligence. The Standard Progressive Matrices ...

F raser et al. (1) reported that “highdose benfotiamine (300 mg/day) supplementation over 24 months has no significant effects upon peripheral nerve function or soluble markers of inflammation in patients with type 1 diabetes.” Although this conclusion may be correct based on these findings, the clinical relevance remains obscure in view of the questionable study design. According to the recent...

In the present study three dimensional steady state thermo-chemical simulation of a pultrusion process is investigated by using the finite element/nodal control volume (FE/NCV) technique. Pultrusion simulation of a composite having a C-shaped cross section is performed as a validation case. The obtained cure degree profiles for specific points match well with those in the literature. Following ...

Hereditary motor and sensory neuropathies (HMSN) comprise a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. More than 250 distinct mutations of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ/P0), and connexin 32 (Cx32/GJB1) genes have been reported in patients diagnosed with different forms of hereditary motor and sensory neuropathie...

A 55 years old, hypertensive, diabetic lady presented with sudden onset jerky movement of lower trunk and legs. It was present both in awake and sleep and got aggravated by mental stress as well as sensory stimulation. Examination revealed rhythmic jerks affecting muscles of lower abdomen and legs. The lower limbs had normal muscle bulk and power, increased tone, exaggerated deep tendon reflexe...

In [6] and motivated by the theoretical discussion on physical realizations from [7], a new quantum gate library (the NCV-|v1〉 library) for electronic design automation of quantum circuits has been proposed. Here, qudits instead of qubits are assumed, i.e. a basic building block which does not rely on a two level quantum system but a (multiple-valued) d-level quantum system is assumed. However,...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.