The wheelchair is one of the main assistive appliance for patients with spinal cord injury. With the improvement of material and technique, it is more complicated to select the wheelchair and wheelchair seat equipment. The researches in recent years involved application of wheelchair for patients with spinal cord injury, including the cushions and other structures, which were reviewed in this article.

Objective To apply the prosthesis and orthosis to improve the walking ability of patients after meningomyelocele.Methods A case was reported.Results and Conclusion After wearing prosthesis and orthosis combined with physical therapy for 3 weeks,She could walk 1000 m with only one hand crutch and the speed reached to 36 m/min.

ObjectiveTo study a fast and feasible system in clinical application of computer aided socket design and manufacture. MethodsThe biomechanical index were compared of traditional hand-made prosthetic sockets and of computer aided design and manufacture ones based on 3D scanning and reverse engineering. ResultsThe index from 3 cases wearing the computer aided design and manufacture socket prostheses appeared similar or better in static mechanical parameters, walking kinetic parameters and stump-socket interface pressure than they wearing traditional hand-made ones. ConclusionThis computer aided socket design and manufacture system can meet patients' needs in using their prostheses.

ObjectiveTo design a reciprocal gait prosthesis connecting with the other prosthetic accessories for the bilateral hip disarticulation amputees.MethodsThe principle of reciprocal gait orthosis for paraplegia was used in the design, fitting reciprocal gait prosthesis for an amputee, which was compared with an ordinary bilateral Canadian type hip disarticulation prosthesis in the walking velocity and energy expenditure.ResultsThe amputee walked at lower energy expenditure and more like normal gait with reciprocal gait prosthesis while the walking velocity decreased, compared with the conventional prosthesis.ConclusionThis reciprocal gait prosthesis for bilateral hip disarticulation amputee needs less energy expenditure during walking like normal gait.

OBJECTIVETo analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.

METHODSG-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization (FISH) was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes.

RESULTSThe karyotypes of the proband, her mother and her fetus were all 46,X,del(X)(q24). Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion.

CONCLUSIONThe Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, X ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Primary Ovarian Insufficiency ; genetics

OBJECTIVE: To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region. METHODS: Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves. RESULTS: 4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively. CONCLUSION HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.
Genotype ; Hemoglobin A2/genetics* ; Heterozygote ; Humans ; Mass Screening ; Mutation ; alpha-Thalassemia ; beta-Thalassemia/genetics*

OBJECTIVE: To explore the genetic etiology for a child featuring mental retardation, language delay and autism. METHODS: G-banding chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were carried out for the child and her parents. RESULTS: The child was found to have a 46,XX,dup(8p?) karyotype, for which both of her parents were normal. SNP-array revealed that the child has harbored a 6.8 Mb deletion in 8p23.3p23.1 and a 21.8 Mb duplication in 8p23.1p12, both of which were verified as de novo pathogenic copy number variants. CONCLUSION The clinical features of the child may be attributed to the 8p deletion and duplication. SNP-array can facilitate genetic diagnosis for children featuring mental retardation in conjunct with other developmental anomalies.
Humans ; Child ; Pregnancy ; Female ; Intellectual Disability/genetics* ; Prenatal Diagnosis ; Karyotyping ; Chromosome Banding ; Chromosome Deletion

Objective: To explore the genetic basis of a child with developmental delay and intellectual disability. Methods: Peripheral blood samples of the child and his parents were collected for routine G-band karyotyping analysis and single nucleotide polymorphism array (SNP array) assay. Amniotic fluid sample was collected during the next pregnancy for prenatal diagnosis. Results: No karyotypic abnormality was found in the child and his parents. SNP array showed that the child has carried a 855.3 kb microduplication in 15q11.2. His mother carried the same duplication but had no phenotypic anomaly. No microdeletion/microduplication was found in his father. Upon prenatal diagnosis, no abnormalities was found with the chromosomal karyotype and SNP array result of the fetus. Conclusion 15q11.2 microduplication may result in developmental delay and intellectual disability, for which CYFIP1 may be a candidate gene. However, the duplication may increase the risk but with a low penetrance. This should attract attention during clinical consultation.