Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families. The 81 CMT families had pr...

Hypodontia of permanent teeth was evaluated from orthopantomograms of 2072 apparently healthy pediatric patients at The Hospital of Nihon University School of Dentistry at Matsudo. The prevalence of congenitally missing teeth (CMT) was 8.7% in boys and 10.8% in girls, and 9.4% for both sexes combined. Most cases (67.8%) involved either one or two missing teeth. There were in total 574 CMT, and ...

The Charcot-Marie-Tooth (CMT) neuropathies divide into two main electrophysiological groups with slow and near normal conduction velocities corresponding to Schwann cell and axonal pathology. An intermediate group also exists with nerve conduction velocities, which overlaps the two main groups. Families with intermediate CMT can be recognized in which different affected individuals in the same ...

Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT. We describe clinical, electrophysiological and molecular findings...

PURPOSE To evaluate the effect of a single dose of intravitreal diclofenac on best- corrected visual acuity (BCVA) and central macular thickness (CMT) in patients with refractory uveitic cystoid macular edema (CME). METHODS In this prospective non-comparative case series, 8 eyes of 8 patients with refractory CME secondary to chronic intermediate uveitis received a single intravitreal injectio...

The molecular targets and neural circuits that underlie general anesthesia are not fully elucidated. Here, we directly demonstrate that Kv1-family (Shaker-related) delayed rectifier K(+) channels in the central medial thalamic nucleus (CMT) are important targets for volatile anesthetics. The modulation of Kv1 channels by volatiles is network specific as microinfusion of ShK, a potent inhibitor ...

There is currently considerable concern about the attractiveness of hospital medicine as a career and experiences in core medical training (CMT) are a key determinant of whether trainees continue in the medical specialties. Little is understood about the quality and impact of the current CMT programme and this survey was designed to assess this. Three key themes emerged. Firstly, the demands of...

In this paper we propose CASC, a cache-aware operating system scheduling algorithm for multithreaded chip multiprocessors (CMT). CMT is emerging as a popular architecture for server platforms, and most major hardware manufacturers plan or already have released CMT processors. It is the job of the operating system to manage the shared resources of the hardware, and the second-level (L2) cache is...

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifes...

Charcot-Marie-Tooth (CMT) disorders are an extremely heterogeneous group of diseases of the peripheral nervous system in humans, with a prevalence of around 1 in 2,500. To date, mutations in 30 genes have been reported in various CMT forms. In numerous CMT types, only the locus is known, but some CMT forms were shown not to be linked with any known locus. Genetic studies in CMT disorders cover ...