ObjectiveTo observe the effect of comprehensive rehabilitation on shoulder subluxation of patients with stroke hemiplegia.MethodsComprehensive rehabilitation was practiced on 20 hemiplegic post-stroke patients with shoulder subluxation, including putting injured limb at correct position, keeping the range of passive motion, resistance exercise of scapula muscle group, and shoulder sting. The therapeutic effect was evaluated after 6 weeks treatment.ResultsThere was a significant difference in the shoulder subluxation and movement function of the upper extremities between pre-therapy and after therapy ( P<0.05～0.01).ConclusionComprehensive rehabilitation has obvious therapeutic effect on shoulder subluxation and motor dysfunction of patients with stroke hemiplegia.

OBJECTIVETo identify the gene causing hereditary multiple exostoses in a Chinese pedigree.

METHODSLinkage analysis was carried out in the family using microsatellite markers close linkage to the EXT1 and EXT2 genes to define the candidate gene. Then the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.

RESULTSThe disease-causing gene of the family was linked to the EXT2 gene. A nonsense mutation of 536G>A in exon3 of the EXT2 gene was detected, which was co-segregated with the disease phenotype. The mutation resulted in a stop codon in codon 180. A nonpenetrant case was found in the family.

CONCLUSIONThe mutation 536G>A in the EXT2 gene is the disease-causing mutation in the pedigree with hereditary multiple exostoses.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Codon, Nonsense ; Exostoses, Multiple Hereditary ; genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree ; Young Adult

OBJECTIVETo determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.

METHODSThe karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.

RESULTSThere were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.

CONCLUSIONThe de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Microsatellite Repeats ; genetics ; Phenotype ; Syndrome

With the rapid development and expansion of the scale of the industry of Chinese materia medica,a large number of by-products in the process industrialization of Chinese materia medica have been produced,among which,the solid by-products of Chinese materia medica have been favoured by researchers due to the fact that they are rich in a large number of proteins,cellulose,hemicellulose,lignin,etc.,which can be used in the preparation of high value-added products.Therefore,the authors elaborated on the research on biochemical conversion,thermochemical conversion,resource oriented chemical components,preparation of biomass fuel,new composite materials and high-efficiency adsorbent of solid by-products in the process of industrialization of Chinese materia medica in recent years,aiming to provide theoretical basis for the comprehensive and high-value utilization of the solid by-products of Chinese materia medica and extension of the industrial chain.