Effect of different ischemia preconditioning modes on ischemia-reperfusion injury of skeletal muscle in rats / 中华创伤杂志

Objective:To investigate the effect of different ischemic preconditioning (IPC) modes on ischemia-reperfusion (IR) injury of skeletal muscle in rats.Methods:Forty male SD rats were selected to construct the model of IR injury of skeletal muscle by clamping one side of the femoral artery. In the IPC mode, the right femoral artery was clipped for 10 minutes, and reperfusion ensued for 10 minutes after the release of artery clamp. Such preconditioning procedure was repeated 3 times. The rats were divided into conventional IR group, IPC immediate group, IPC24-hour group, IPC48-hour group and sham operation group according to the random number table method, with 8 rats in each group.In conventional IR group, the right femoral artery was clipped for 3 hours and then the artery clamp was released to allow reperfusion for 3 hours. In IPC immediate group, the same treatment as conventional IR group was performed immediately after preconditioning. In IPC24-hour group, the rats received skin suturing after preconditioning and then fed in a cage for 24 hours before the same treatment as conventional IR group. In IPC48-hour group, the rats received skin suturing after preconditioning and then fed in a cage for 48 hours before the same treatment as conventional IR group. In sham operation group, the right femoral artery was bluntly separated but not clipped. At the end of reperfusion, the tibialis anterior muscle tissue, gastrocnemius muscle tissue and serum were collected. The ratio of wet weight to dry weight (W/D) of the tibialis anterior muscle tissue was calculated to evaluate tissue edema. After HE staining, histopathological changes of gastrocnemius muscle were observed and the injury severity of gastrocnemius tissue was scored. Serum levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β) and malondialdehyde (MDA) were determined by ELISA. Expressions of hypoxia receptor (EGLN1) and hypoxia-inducible factor-1α (HIF-1α) in the gastrocnemius tissue were detected by real-time fluorescence quantitative PCR (qRT-PCR).Results:The degree of tissue edema was reduced under different IPC modes when compared with conventional IR group (all P<0.01). The W/D in conventional IR group, IPC immediate group, IPC24-hour group and IPC48-hour group were 6.05±0.19, 5.70±0.12, 5.25±0.13 and 5.50±0.08, higher than 3.80±0.08 in sham operation group (all P<0.01). IPC24-hour group had the least degree of edema when compared with IPC immediate group and IPC48-hour group ( P<0.05 or 0.01). The muscle fibers in sham operation group were neatly arranged with clear structure, and the muscle fibers in other groups showed different degrees of injury and inflammatory infiltration. The total scores for tissue injury severity in IPC immediate group, IPC24-hour group and IPC48-hour group were (8.15±0.15)points, (6.15±0.38)points and (6.90±0.19)points, lower than (9.60±0.50)points in conventional IR group and higher than (0.16±0.16)points in sham operation group (all P<0.01). The total scores for tissue injury severity in IPC24-hour group and IPC48-hour group were not significantly different ( P>0.05), but both decreased when compared with IPC immediate group ( P<0.05 or 0.01). ELISA showed that the levels of TNF-α, IL-1β and MDA under different IPC modes were higher than those in sham operation group (all P<0.01), and the order from high to low was conventional IR group, IPC immediate group, IPC48-hour group, IPC24-hour group and sham operation group. Levels of IL-1β, TNF-α and MDA in IPC24-hour group were decreased when compared with IPC immediate group and IPC48-hour group (all P<0.05). qRT-PCR showed that the expression of EGLN1 mRNA from high to low was conventional IR group, IPC48-hour group, sham operation group, IPC immediate group and IPC24-hour group and that the expression of EGLN1 mRNA in IPC24-hour group decreased when compared with conventional IR group, IPC immediate group and IPC48-hour group (all P<0.01). The expression of HIF-1α mRNA increased under different IPC modes when compared with sham operation group (all P<0.01), and the order from high to low was IPC24-hour group, IPC immediate group, IPC48-hour group, conventional IR group and sham operation group. The expression of HIF-1α mRNA in IPC24-hour group increased when compared with conventional IR group, IPC immediate group and IPC48-hour group ( P<0.05 or 0.01), but there was no significant difference between IPC immediate group and IPC48-hour group ( P>0.05). Conclusions:Different ischemic preconditioning modes can reduce IR injury of skeletal muscle in rats by reducing tissue edema, inflammatory symptoms and oxidative stress response, among which reperfusion 24 hours after IPC has the best effect on IR injury. EGLN1 and HIF-1α may be involved in IPC to alleviate IR injury of skeletal muscle in rats.

Efficacy of open reduction and locking plate fixation via subacromial anterolateral approach for proximal humerus fracture / 中华创伤杂志

Objective To investigate the clinical efficacy of subacromial anterolateral small incision approach with open reduction and internal fixation with proximal humeral locking system (PHILOS) for proximal humeral fractures.Methods A retrospective case-control study was conducted to analyze the complete medical records of 76 patients with proximal humeral fractures admitted to the Department of Traumatic Surgery,Fujian Provincial Hospital from April,2013 to December,2017.There were 22 males and 54 females,aged from 25 to 89 years [(60.4 ± 16.4)years].All patients had closed fractures.According to Neer classification,there were 12 patients of type Ⅱ,46 patients of type Ⅲ,and 18 patients of type Ⅳ.The duration from injury to operation ranged from 1 to 10 days [(4.4 ± 1.9)days].All patients received treatment of open reduction fixation with PHILOS.Forty patients received subacromial anterolateral small incision approach with percutaneous interactive reduction and internal fixation of humerus head and humerus shaft,including four patients of Neer type Ⅱ,26 patients of type ⅢH,and 10 patients of type Ⅳ (minimally invasive group).Thirty-six patients received the deltopectoral approach with reduction and internal fixation,including eight patients of type Ⅱ,20 patients of type Ⅲ,and 8 patients of type Ⅳ (conventional group).The total length of incision,the operation time,intraoperative blood loss,hospitalization time,review of the neck angle with X-ray Ⅰ week after surgery,and the fracture healing after 6 months,the ipsilateral Neer shoulder joint function score at 6 months after surgery and complications were compared.Results All patients were followed up for 3-12 months [(9.2 ± 1.7) months],and there were six patients lost to the follow-up including four of the minimally invasive group and two of the conventional group.In the minimally invasive group and the conventional group,the total length of incision was 6.0(6.0,6.8) cm and 11.5 (10.0,15.0) cm (P ＜ 0.01),the operation time was (122.2 ± 31.8) minutes and (136.9 ± 36.6) minutes (P ＞ 0.05),the intraoperative blood loss was 100 (80,150) ml and 175 (100,200) ml (P ＜ 0.01),the hospitalization time was (15.3 ± 8.3) days and (16.2 ± 5.1) days (P ＞ 0.05),the neck-shaft angle was (134.7 ± 2.5) ° and (134.6 ± 2.6) ° (P ＞ 0.05).A total of 70 patients obtained good bone healing.At 6 months after operation,the Neer shoulder function score of the affected side in the minimally invasive group was excellent in 30 patients,good in four patients,and fair in two patients,with the excellent and good rate of 96％,and for conventional group the score was excellent in 20 patients,good in eight patients,and fair in six patients,with the excellent and good rate of 84％ (P ＜ 0.05).There was no complication in the minimally invasive group,but axillary nerve injury was found in one patient in the conventional group.Conclusion For the proximal humerus fracture,compared with the traditional deltopectoral approach,the subacromial anterior lateral small incision approach with percutaneous humeral head and humeral shaft reduction and interal fixation has the advantages of smaller incision,less bleeding and better functional recovery,which is a minimally invasive and effective treatment.

Efficacy of open reduction and locking plate fixation via subacromial anterolateral approach for proximal humerus fracture / 中华创伤杂志

Objective@#To investigate the clinical efficacy of subacromial anterolateral small incision approach with open reduction and internal fixation with proximal humeral locking system (PHILOS) for proximal humeral fractures.@*Methods@#A retrospective case-control study was conducted to analyze the complete medical records of 76 patients with proximal humeral fractures admitted to the Department of Traumatic Surgery, Fujian Provincial Hospital from April, 2013 to December, 2017. There were 22 males and 54 females, aged from 25 to 89 years [(60.4±16.4)years]. All patients had closed fractures. According to Neer classification, there were 12 patients of type II, 46 patients of type Ⅲ, and 18 patients of type IV. The duration from injury to operation ranged from 1 to 10 days [(4.4±1.9)days]. All patients received treatment of open reduction fixation with PHILOS. Forty patients received subacromial anterolateral small incision approach with percutaneous interactive reduction and internal fixation of humerus head and humerus shaft, including four patients of Neer type II, 26 patients of type III, and 10 patients of type IV (minimally invasive group). Thirty-six patients received the deltopectoral approach with reduction and internal fixation, including eight patients of type II, 20 patients of type III, and 8 patients of type IV (conventional group). The total length of incision, the operation time, intraoperative blood loss, hospitalization time, review of the neck angle with X-ray 1 week after surgery, and the fracture healing after 6 months, the ipsilateral Neer shoulder joint function score at 6 months after surgery and complications were compared.@*Results@#All patients were followed up for 3-12 months [(9.2±1.7)months], and there were six patients lost to the follow-up including four of the minimally invasive group and two of the conventional group. In the minimally invasive group and the conventional group, the total length of incision was 6.0(6.0, 6.8)cm and 11.5(10.0, 15.0)cm ( P<0.01), the operation time was (122.2±31.8)minutes and (136.9±36.6)minutes ( P>0.05), the intraoperative blood loss was 100(80, 150)ml and 175(100, 200)ml (P<0.01), the hospitalization time was (15.3±8.3)days and (16.2±5.1)days (P>0.05), the neck-shaft angle was (134.7±2.5)° and (134.6±2.6)°(P>0.05). A total of 70 patients obtained good bone healing. At 6 months after operation, the Neer shoulder function score of the affected side in the minimally invasive group was excellent in 30 patients, good in four patients, and fair in two patients, with the excellent and good rate of 96%, and for conventional group the score was excellent in 20 patients, good in eight patients, and fair in six patients, with the excellent and good rate of 84%(P<0.05). There was no complication in the minimally invasive group, but axillary nerve injury was found in one patient in the conventional group.@*Conclusion@#For the proximal humerus fracture, compared with the traditional deltopectoral approach, the subacromial anterior lateral small incision approach with percutaneous humeral head and humeral shaft reduction and interal fixation has the advantages of smaller incision, less bleeding and better functional recovery, which is a minimally invasive and effective treatment.

Blocking nail technique for treatment of hypertrophic nonunion after femoral interlocking intramedullary nailing / 中华创伤杂志

Objective To investigate the clinical effect of blocking nail in treatment of hypertrophic nonunion after interlocking intramedullary nailing of femoral shaft fractures.Methods A retrospective case series study was made on 11 patients with hypertrophic nonunion following interlocking intramedullary nailing of femoral shaft fractures from January 2006 to February 2016.There were 8 males and 3 females,aged (32.4 ± 6.8) years (range,19-48 years).Comminuted fractures were noted in three patients,long oblique or spiral fractures in two,multi-segment fractures in two,and transverse fractures in four.Time interval between this surgery and intramedullary nailing of femoral shaft fractures was (11.5 ±3.1) months (range,6-18 months).All blocking nails were inserted into pulp cavity of distal ends of the site of the bone nonunion.Fracture healing time,wound healing and postoperative complications were detected.Outcome was evaluated using the Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI).Results All patients were followed up for (27.2 ± 4.6) months (range,24-36 months).Bone union was observed within (9.8 ± 3.4) months except that bone nonunion occurred in two cases requiring locking plate fixation and autologous bone grafting to provide union,with the healing rate of 91％.No wound infection,nail breakage and nail loosening occurred after operation.At postoperative 3 months,4 months,5 months,6 months,12 months and 24 months,VAS and ODI differed significant from the preoperative detections (P ＜ 0.05).Conclusion Blocking nail technique is associated with increased stability of intramedullary nails and fracture ends,low incidence of complications and high bone healing rate in treatment of hypertrophic nonunion after femoral interlocking intramedullary nailing.

Clinical features of cervical spine injury associated with chest injury / 中华创伤杂志

Objective To investigate the clinical characteristics of cervical spine injury associated with chest injury by contrast with simple cervical spine injury.Methods A retrospective analysis was performed on records of 116 patients with cervical spine injury hospitalized from March 2009 to September 2014.There were 65 patients with simple cervical spine injury (simple injury group) and 51 patients with associated chest injury (associated injury group).Data recorded were the causes of injury, injury segment, treatment choices (tracheotomy rate, mechanical ventilation use and non-operative treatment), treatment time (operation rate at different time, time from injury to operation and length of hospital stay) , complications (electrolyte disorder, respiratory infection, respiratory dysfunction or failure, urinary tract infection, gastrointestinal bleeding and multiple organ dysfunction syndrome), and treatment outcome.Results The main cause of injury for the two groups was high falling.Lower cervical segment was the most likely to be affected.Significant differences were detected between the simple injury group and associated injury group with regard to tracheotomy rate (63％ vs.42％), rate of mechanical ventilation (41％ vs.25％), rate of early surgery (29％ vs.58％), rate of delayed surgery (69％ vs.30％), time from injury to operation [(7.2 ± 3.7) d vs.(3.1 ± 1.3) d], length of hospital stay [(22.6-± 5.5) d vs.(17.3 ± 3.7)d], electrolyte disorder rate (35％ vs.17％), incidence of respiratory system infection (55％ vs.35％), and respiratory dysfunction (43％ vs.25％) (P ＜0.05).After treatment, American Spinal Injury Association (ASIA) scale for grade D was significantly lower in associated injury group than in simple injury group (25％ vs.39％ P ＜ 0.05).Conclusion Cervical spine injury associated with chest injury is severe injury, often requiring tracheotomy and mechanical ventilation, and demonstrates difficulties to be effectively treated in the early phase, long hospitalization, various complications and high morbidity.

c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).</p><p><b>METHODS</b>Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.</p><p><b>RESULTS</b>The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.</p><p><b>CONCLUSION</b>It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.</p>

Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family / 华中科技大学学报（医学）（英德文版）

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.

Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family / 华中科技大学学报（医学）（英德文版）

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.

A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members.</p><p><b>METHODS</b>Mutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay.</p><p><b>RESULTS</b>A novel heterozygous mutation, F189L, in CASQ2 gene was identified in one family with CPVT. This mutation occurred at the evolutionarily, highly conserved phenylalanine residue at codon 189, and was not present in 1400 control individuals. No other disease-causing mutations were identified in the CASQ2 gene.</p><p><b>CONCLUSION</b>A novel mutation of F189L in the CASQ2 gene was identified.</p>

Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).</p><p><b>METHODS</b>Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.</p><p><b>RESULTS</b>The Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals.</p><p><b>CONCLUSION</b>Author identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.</p>

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1).</p><p><b>METHODS</b>Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation.</p><p><b>RESULTS</b>A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss.</p><p><b>CONCLUSION</b>The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.</p>

Differences in gene expression between Taxus chinensis cells during Taxol-synthesis phase and those during non-Taxol-synthesis phase / 生物工程学报

In plant, evocation of secondary metabolism is associated with complex biochemical and molecular events that are regulated by developmental and environmental factors. In order to get more information about Taxol biosynthesis, comparison of mRNA populations from Taxus chinensis cells during Taxol-synthesis phase and those during non-Taxol-synthesis phase were performed by mRNA differential display. The results suggested that genes specifically expressed in the Taxol-synthesis phase might be involved in Taxol biosynthesis.