ABSTRACT
Objective To report a case of Costello syndrome complicated by curis laxa,and to make a molecular genetic diagnosis.Methods Clinical data were collected from a case of Costello syndrome complicated by cutis laxa.Skin tissues were resected from the patient,and peripheral blood samples were obtained from the patient's parents and 150 unrelated healthy controls.Genomic DNA was extracted from these samples,and all the exons and their flanking sequences of the HRAS gene were analyzed by DNA sequencing.Results The 13-month-old female patient presented with growth retardation,severe malnutrition,coarse facial appearance,severely loose skin over the limbs,and decrease or disappearance of subcutaneous fat.A heterozygous mutation c.34G ＞ T (p.Gly12Cys) was detected in exon 2 of the HRAS gene in the patient,but not in her parents or 150 unrelated healthy controls.Conclusion The c.34G ＞ T (p.Gly12Cys) mutation in exon 2 of the HRAS gene may be responsible for Costello syndrome in the patient.
ABSTRACT
BACKGROUND:Some studies have showed that the accuracy and surgery outcome of the percutaneous pedicle screw implantation was superior to open surgery, but the relationship between the angle of pedicle screws and screw stability is stil unclear in previous studies. OBJECTIVE:To investigate the effect of different angles of implanted screws on the stability of pedicle screw. METHODS:A total of 30 vertebral specimens of adult pigs were selected and screws were implanted respectively according to different coronal and sagittal angles. The maximum pul-out strength of screws from each specimen was tested by machine. Load-displacement curves were drew and statistical y analyzed. RESULTS AND CONCLUSION:The maximum pul-out strength and maximum energy of screw with 10° and 15° coronal and sagittal angles implantation were significantly better than those of 0° angle group (P<0.05). When the stress exceeded the maximum pul-out strength, the pul-out strength of screw decreased gradual y. The curves in coronal and sagittal 10° and 15° angle groups was similar, and the slope was better than 0° angle group (P<0.05). These results confirm that the angle of the implanted screw provides effective assistance to the stability of percutaneous pedicle screw. After the looseness of the screws, the pul out strength shows a steady downward trend.
ABSTRACT
Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.
ABSTRACT
@#Objective To evaluate clinical effect of expandable intramedullary nail in unreamed treatment of tibia fracture.Methods 31 patients with proximate tibia fracture were treated with expandable intramedullary nail and unreamed.Among those patients,4 cases were compound fracture,27 cases were closed fracture;16 cases were AO/ASIF type A,4 cases were type B and 11 cases were type C.The following-up of 9 months to 5 years(average 2 years) performed after operation.Results The fractures of 30 patients healed up and patients' functions recovered.1 case with comminuted and multiple fracture got delayed union.Conclusion Expandable intramedullary nail is an utility and satisfactory method to treat proximate tibia fracture.
ABSTRACT
@#Objective To explore the pathological changes of the femoral head bone metabolism induced by diabetes mellitus.Methods Seventy rabbits were divided into the control group and experiment group randomly. The control group were injected with saline; while the experiment group were injected with Alloxan through ear-edge vein quickly to establish the immediate diabetes mellitus model. The histopathology, ultrastructure, biochemistry, hemorrheology, and platelet function of all animals of two groups were detected in different periods.Results In the experiment group, 2 animals' bone trabecula were found disorder and vacant bone lacuna was 14% in the 4th week; in the 8th week, 3 animals' part bone trabecula were found breakage, defluxion, vacant bone lacuna was 28%; in the 12th week, 5 animals' bone trabecula were found breakage, defluxion obviously, vacant bone lacuna was 56%. Under TEM, there was some lipid droplet in bone cells, bone cellular necrotized at different levels. Myelosis decrease, the number and diameter of adipose cell increased. In the 8th and 12th week, the content of serum calcium decreased and that of serum phosphorus increased in the experiment group compared with the control group ( P<0.05, P<0.0l), and the product of calcium and phosphorus of the experiment group in the 12th week was lower than that of the control group (P<0.05).Conclusion DM can cause osteoporosis. Capillary fracture happens in the arch bridge structure of femoral head under machine press while being pressed. Along with the course of DM process, capillary fracture accumulates, bone under cartilage compress and collapse. It can oppress bone capillary to cause ischemia. All factors result in the basic pathology and the primary pathogenesy of the femoral head.