Objective:To investigate the clinical effects of anterior cage inserting for old thoracolumbar fractures with kyphosis through facet joint approach.Methods:A retrospective analysis was conducted on 32 patients with old thoracolumbar fractures complicated with kyphosis admitted from January 2018 to December 2019, including 14 males and 18 females. The average age was 47.3±13.1 years (range, 26-70 years). Thoracolumbar injury classification (TLICS) scores of patients with initial injury were 3-5 points, with an average of 4.0 points. After 6.3±2.9 months (range, 3-16 months) conservative treatment, intractable thorax and lumbar or back pain still existed. Anterior cage inserting via articular protrusion was performed in 15 cases and posterior screw placement and bone grafting fusion of injured vertebrae was performed in 17 cases. Preoperative sagittal Cobb angle was 27.0°±3.9° and 26.8°±4.6° in the anterior cage inserting group and fixation on fractured vertebrae group ( t=0.07, P=0.946), respectively. Sagittal vertical axis (SVA) was 4.2±1.8 cm and 4.1±2.1 cm ( t=0.14, P=0.887), respectively. The number of patients with ASIA impairment scale (AIS) of the anterior cage inserting group before surgery was 1 in grade C, 4 in grade D and 10 in grade E. However, the number of that in fixation on fractured vertebrae group was 2 in grade C, 2 in grade D and 13 in grade E. There was no significant difference between the two groups (χ 2=1.34, P=0.520). Results:All 32 patients were followed up for 12.2±3.1 months in the anterior cage inserting group and 12.0±3.3 months in fixation on fractured vertebrae group. The operative duration of the anterior cage inserting group and fixation on fractured vertebrae was 128±24.5 min and 123±40.6 min ( t=0.42, P=0.681). The intraoperative blood loss was 485±12.6 ml and 478±16.3 ml ( t=0.13, P=0.894), respectively. At the last follow-up, the improvement rate of VAS score of the anterior cage inserting group was higher than that of fixation on fractured vertebrae group (90%±10% vs. 75%±20%, t=3.17, P=0.004). The height of anterior margin of injured vertebra in the two groups was increased by 1.02±0.10 cm and 0.29±0.14 cm, the change rate of anterior cage inserting group was higher than that of fixation on fractured vertebrae group (67.1%±31.5% vs. 19.0%±14.9%, t=16.29, P<0.001). The sagittal Cobb angle of the anterior cage inserting group was significantly lower than that of fixation on fractured vertebrae group (7.4°±1.5° vs. 11.6°±2.5°, t=-5.85, P<0.001). The SVA of anterior cage inserting group was lower than that of fixation on fractured vertebrae group (1.1±0.6 cm vs. 1.6±0.6 cm, t=2.35, P=0.025). There were 15 patients in AIS grade E in the anterior cage inserting group, while 1 patient in grade D and 16 patients in grade E in fixation on fractured vertebrae group without significant difference between the two groups (χ 2=0.83, P=0.706). Conclusion:The treatment of old thoracolumbar fractures with kyphosis through facet joint approach and anterior fixation could achieve satisfied effects and could relieve pain symptoms of thoracolumbar and back, compared with posterior fusion for injured vertebra with nail and bone grafting.

OBJECTIVETo identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.

METHODSGenomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.

RESULTSThere were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).

CONCLUSIONThis GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.

Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Conserved Sequence ; DNA Mutational Analysis ; Epilepsy, Generalized ; complications ; genetics ; Exons ; genetics ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Receptors, GABA-A ; chemistry ; genetics ; Seizures, Febrile ; complications ; genetics

OBJECTIVETo investigate the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance.

METHODSTwenty-three patients consistent with the diagnosis of SMEI were selected for SCN1A mutation analysis. Genomic DNA was extracted from peripheral blood lymphocytes of these patients and their parents. All the twenty-six exons of the SCN1A gene were amplified by PCR and sequenced.

RESULTSIn the 23 SMEI patients, 17 mutations were identified in 17 unrelated SMEI patients. The SCN1A mutation rate was 73.9% (17/23). The mutations included 8 missense mutations (F90S, I91T, A239T, W952G, T1210K, V1335M, V1390M and G1433E), 3 nonsense mutations (R612X, W768X and W1408X), 3 deletion mutations (A395fsX400, L556fsX557 and V1778fsX1800), 1 insertion mutation (Y1241fsX1270), 1 splice-site mutation (IVS10+3 A to G) and 1 synonymous mutation (K1492K), of which 47.1% (8/17) were truncation mutations. Thirteen mutations (F90S, I91T, T1210K, V1335M, G1433E, R612X, W768X, A395fsX400, L556fsX557, V1778fsX1800, Y1241fsX1270, IVS10+3A to G and K1492K) have not been reported previously. Except for F90S, L556fsX557 and V1778fsX1800, the other 14 mutations were de novo.

CONCLUSIONSCN1A is a major pathogenic gene for SMEI. About a half of the SCN1A mutations in SMEI cause truncation. There were no hotspots of SCN1A mutations in SMEI patients, and most mutations were de novo.

Adolescent ; Age of Onset ; Amino Acid Sequence ; Child ; Child, Preschool ; Chromosome Mapping ; Codon, Nonsense ; DNA Mutational Analysis ; Epilepsies, Myoclonic ; diagnosis ; genetics ; Exons ; genetics ; Female ; Genotype ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation, Missense ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Sequence Alignment ; Sequence Deletion ; Sodium Channels ; genetics