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We describe a probably novel mutation in exon 5 of the presenilin 2 gene (Pro123Leu) in a Chinese familial early-onset Alzheimer's disease, which clinically manifests as progressive memory loss, cognitive impairment, parkinsonism, and myoclonic jerks. Clinical and neuroimaging examination, target region capture, and high-throughput sequencing were performed(More)
We successfully fabricated a highly anisotropic electrical conductive microcoil/polydimethylsiloxane (PDMS) composite based on helical Spirulina-templated metallic particles using an electric field-induced alignment method. The optimized AC electric field (2 kV/cm, 1 kHz) could efficiently assemble the lightweight conductive microcoils into continuous long(More)
OBJECTIVE To analyze the clinical manifestation, laboratory findings, radiological data of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis. METHODS The clinical manifestation, laboratory findings, radiological data of eleven patients with anti-NMDA receptor encephalitis were analyzed. RESULTS Main symptoms included epilepsy presented in 9 cases,(More)
Four generations of a Chinese family with a mild form of paramyotonia congenital was characterized in phenotype and genotype. For each member, clinical history, physical examination, laboratory tests, electrophysiological and gene analyses were recorded and carried out. A potassium loading, exercise and cold provocation were further tested to diagnose the(More)
The aim of this study was to explore the expression of heparanase (HPA) in metastatic lymph nodes (LNs) of cervical cancer and to evaluate HPA as a marker of micro-metastasis of LNs. Immunohistochemistry was performed to detect the expression of HPA in 53 cases with metastasis of LNs (group A) and 49 cases without (group B). Scoring was determined based on(More)
OBJECTIVE To evaluate the effects of 4-aminopyridine-3-methyl hydroxide (4-AP-3-MeOH) in rat's acute spinal cord injury. METHODS A total of 12 adult male SD rats (250-300 g) were randomly divided into treatment (n = 6) and control (n = 6) groups. After compressing segment T11 of spinal cord for 30 min, the injured segment received 1 ml 4-AP-3-MeOH (100(More)
In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities. Clinical examination and(More)
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