Objective To investigate the corelation between platelet activating factor acetylhydrolase (PAF-AH) genetic polymorphism and ischemic stroke. Methods The plasma PAF-AH genotype was determined in 205 patients with iachemic stroke and 114 normal subjects by the polymerase chain reaction. The levels of plasma platelet activating factor (PAF), platelet α-granule membrane glycoprotein-140(GMP-140), β-thromboglobulin (β-TG) and the levels of platelet factor 4 (PF4) were analyzed. Results The prevalence of the mutation genotype and plasma PAF, GMP-140, β-TG and PF4 in the patients with isehemic stroke [42.44%,(91.08 ± 39.10) ng/L, (36.46 ± 13.10) μg/L, (41.75 ± 11.18) μg/L, (29.05 ± 9.16) g/L, respectively] were significantly higher than those in the controls[21.05%,(64.30 ± 18.81) ng/L, (18.27 ± 7.68) μg/L, (30.94 ± 8.47) μg/L, (18.75 ± 6.06) μg/L](P< 0.01). The levels of plasma PAF, GMP-140 were significantly higher in mutation genotype patients than those in the normal genotype patients (P < 0.01). Conclusions The activation function of platelet in the acute phase of patients with ischemic stroke increases, and it is associated with genetic polymorphism of PAF-AH. The PAF-AH gene mutation may be a novel genetic marker for high risk of ischemic stroke.

OBJECTIVETo explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.

METHODSA genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.

RESULTSMultipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.

CONCLUSIONThese results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.

Adult ; China ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; genetics ; Family Health ; Female ; Genetic Linkage ; Genetic Predisposition to Disease ; genetics ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Middle Aged ; Models, Genetic ; Pedigree ; Schizophrenia ; genetics

OBJECTIVETo explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia.

METHODSA series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1.

RESULTSHaseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis.

CONCLUSIONThe results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.

Chromosomes, Human, Pair 1 ; genetics ; Family Health ; Genetic Linkage ; Humans ; Lod Score ; Microsatellite Repeats ; Quantitative Trait, Heritable ; Schizophrenia ; genetics

Objective:To evaluate natural reduction at prone position in the treatment of femoral subtrochanteric fractures with intramedullary nailing.Methods:The clinical data of 7 patients with subtrochanteric fracture were retrospectively analyzed who had been treated at Orthopaedic Department, Beijing Tsinghua Changgung Hospital from August 2016 to April 2018. They were 4 males and 3 females, aged from 31 to 87 years (average, 55.6 years). Their fractures happened on the left side in 3 patients and on the right side in 4. By the Seinsheimer classification, there were 3 cases of type Ⅱ, 2 cases of type Ⅲ and 2 cases of type Ⅴ. The time from injury to surgery ranged from 9 to 44 hours, averaging 26 hours. All patients were treated by intramedullary nailing after natural reduction at prone position. Their preoperative preparation time, time required for reduction, total operation time, fluoroscopic frequency for guide pin insertion, fluoroscopic frequency for reduction, reduction quality, complications and curative effect were recorded.Results:Closed reduction and intramedullary nail fixation were completed uneventfully in all the 7 cases. Their preoperative preparation time averaged 29.4 min (from 21 to 42 min), reduction time 6.3 min (from 3 to 10 min), and total operation time 157 min (from 82 to 275 min). Their fluoroscopic frequency averaged 37 times (from 14 to 96 times) for guide pin insertion and 23 times (from 10 to 49 times) for reduction, totaling 244 times (from 121 to 360 times). According to the modified Baumgaetner criteria, the fracture reduction was evaluated as excellent in 6 cases and as fair in one. The 7 patients were followed up for 12 to 34 months (mean, 20.1 months). A drill broke at the interlocking nail hole during operation in one patient, deep venous thrombosis occurred at a lower extremity in another during hospitalization, and fracture nonunion was observed after operation in another, but no complications related to the prone position were observed. The curative effect evaluated by Harris hip score at the last follow-up was excellent in 4 cases, as good in 2 cases and as fair in one.Conclusion:In the treatment of femoral subtrochanteric fractures with intramedullary nailing, the prone position benefits natural reduction and maintenance of reduction and allows convenient fluoroscopy and nail placement during operation, especially for obese patients.