Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.@*METHODS@#Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.@*CONCLUSION@#Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.

"The building of the ""treatment-care and four linkage combination"" integrated care model" / 中华护理杂志

The aim is to explore and build the treatment-care and four linkage combination integrated care model,so as to provide methods and ideas for the medical service practice.By exploring the mechanism and hierarchical management mode of the treatment-care and four linkage combination integrated care model,we have set up a whole process management closed loop in four combined linkage,including hospital,medical care,community and family,raised to solve the medical combination of acute medical treatment and the problems existing in the continuing care.After more than a year of preparation and practice,we have build the social service centered medical combined with four linkage information platform,and have realized the online and offline medical combination of care services in hospital,medical care,community and family.Based on Intemet technology,the building of the treatment-care and four linkage combination integrated care model is the efficient method to solve the difficulties and problems of the health care and the continuation demands among elderly under the current conditions,and the feasible way to realize theslight illness in the community,disease the hospital,care in institutions,pension in the family.

Analysis of the effects and influence factors of primary total hip arthroplasty in the treatment of senile femoral neck fractures / 中国综合临床

Objective To analyze the effects and influence factors of primary total hip arthroplasty in the treatment of senile femoral neck fractures,and to increase the excellent rate of hip joint function recovery.Methods Retrospective analysis was applied to study the clinical data of one hundred and ten senile femoral neck fractures patients who underwent primary total hip arthroplasty in the 210th Hospital of People's Liberation Army from January 2014 to March 2016,to explore the main factors affecting postoperative recovery of hip joint function.Univariate analysis was used to analyze the factors influencing the clinical efficacy of the patients in terms of gender,age,body mass index,cause of injury,type of fracture and postoperative rehabilitation time,and Logistic regression analysis was used for multivariate analysis.Results The 110 senile femoral neck fractures patients obtained primary total hip arthroplasty,36 cases have seen excellent hip joint function recovery,54 good,15 fair,and 5 poor,with an excellent rate of 81.8 %(90/110).Single factor analyses found that body mass index,preoperative concomitant diseases,surgical approach,operation time,total blood loss, postoperative analgesia,discrepancy in bilateral lower limb lengths,postoperative rehabilitation time and postoperative complications were significantly related to hip joint function recovery(χ2=8.528,12.742,9.912, 8.131,10.404,10.171,12.406,6.412,10.362,P<0.05).According to the multivariate analysis,body mass index,surgical approach,total blood loss,postoperative analgesia,discrepancy in bilateral lower limb lengths,and postoperative rehabilitation time were the main factors affecting hip joint function recovery(Wald χ2=6.213, 4.543,9.156,6.287,5.461,3.698,95%CI=1.17~6.74,1.43~9.15,1.03~5.82,1.29~9.35,0.05~0.62, 0.12~0.93,P<0.05).Conclusion Primary total hip arthroplasty may lead to excellent curative effects for elderly patients with femoral neck fracture.Smaller body mass index,minimally invasive approach,less discrepancy in bilateral lower limb lengths,postoperative analgesia,less total blood loss and longer postoperative rehabilitation time may facilitate postoperative recovery for hip joint function.

Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy

Objective: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results:No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions: No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

Titanium cageversuspolyetheretherketone cage in posterior lumbar interbody fusion with pedicle screw fixation / 中国组织工程研究

BACKGROUND:Due to the higher modulus of elasticity, titanium cages are prone to have the folowing shortcomings: adjacent vertebral sinking and delayed fusion resulting from stress shielding; therefore, in recent years, it has been gradualy replaced by polyetheretherketone cages. OBJECTIVE:To compare the clinical and radiographic outcomes of patients undergoing posterior lumbar interbody fusion with pedicle screw fixation in which either a polyetheretherketone cage or a titanium cage was implanted. METHODS: The pre- and postoperative data of 104 patients who underwent single-level posterior lumbar interbody fusion were colected and analyzed, including 57 males and 47 females, aged (41.2±10.5) years. The 58 of 104 patients received the titanium cage and the remaining 52 patients received the polyetheretherketone cage. Visual analog scale scores and Japanese Orthopaedic Association Scores of the lumbar and lower limbs were recorded at 24 hours of postoperative folow-up; CT scan was used to detect bone fusion and cage subsidence. RESULTS AND CONCLUSION:After 12 and 24 months of folow-up, the visual analog scale scores and Japanese Orthopaedic Association Scores of the lumbar and lower limbs were al improved in the two groups compared with the previous (P < 0.05), but there was no difference between the two groups. At 12 and 24 months of folow-up, the fusion rates were 94% and 100% in the titanium cage group as wel as 74% and 84% in the polyetheretherketone cage group, respectively, and a significant difference was found between the two groups (P=0.012 andP=0.016). At 24 months of folow-up, the subsidence rate was 36% in the titanium cage group and 30% in the polyetheretherketone cage group, and there was no difference between the two groups. These findings indicate that the superiority of polyetheretherketone cages over titanium cages has not been demonstrated.

Therapeutic effect of levetiracetam add-on treatment for frontal lobe epilepsy in 105 children / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the changes in 24-hour video electroencephalogram (EEG) and epileptic attacks after levetiracetam add-on therapy in children with frontal lobe epilepsy and epileptiform discharges.</p><p><b>METHODS</b>A prospective study was carried out in 105 children with the frontal lobe epilepsy who received long-term treatment with 1 or 2 types of antiepileptic drug but still with epileptiform discharges in ECG. Levetiracetam add-on therapy was administered at the initial daily dose of 20 mg/kg (given in 2 doses) for 2 weeks followed by an increase of the dose to 30 mg/kg with a maintenance dose of 30-40 mg/kg. The changes in seizure attacks and 24-hour video-EEG monitoring after a 6-month therapy were observed.</p><p><b>RESULTS</b>Levetiracetam add-on therapy reduced epileptiform discharges in 55 children (52.3%) and resulted in significant changes in EEG (P<0.05). Of the 77 children with clinical seizures, complete seizure control was achieved in 12 cases after the therapy, and the seizure attacks were reduced in 28 cases, showing a total response rate of 51.9%; the reduction in seizure attacks was positively correlated with EEG improvement (P<0.001).</p><p><b>CONCLUSION</b>Levetiracetam add-on therapy can decrease epileptiform discharges in EEG and reduce clinical seizure attacks in children with frontal lobe epilepsy with only mild adverse reactions.</p>

Early functional exercises after arthroscopic rotator cuff repairs:a meta-analysis / 中国组织工程研究

BACKGROUND:At present, it remains unclear whether delayed functional exercises after arthroscopic rotator cuff repairs could elevate the healing rate of tendon. The opportunity of functional exercises after rotator cuff repairs is stil controversial, and there is no relevant system evaluation. OBJECTIVE:To systematical y evaluate the differences in curative effects of early and delayed functional exercises after arthroscopic rotator cuff repairs. METHODS:We searched the Pubmed, EMBASE, Cochrane Central Register of Control ed Clinical Trials, Chinese Biomedical Literature Database, Wanfang Data, China National Knowledge Infrastructure, and Chongqing VIP Database. The key words were“arthroscopy, rotator cuff, rehabilitation”. The references of the included literatures were re-retrieved. The deadline of retrieval was August 15, 2012. The included literatures were randomized control ed trials on early and delayed functional exercises after arthroscopic rotator cuff repairs. Methodological quality evaluation, screening and heterogeneous test were conducted. REVMAN5.1 software was utilized to analyze the extracted data. RESULTS AND CONCLUSION:We included three randomized control ed trials, including 237 patients:119 in the early movement group and 118 in the delayed movement group. During fol ow-up at 1 year after operation, no significant differences in range of motion, pain degree, American Shoulder and Elbow Surgeons Scale, Simple Should Test scores and re-tear rate of rotator cuff were detected between the two groups. Results confirmed that compared with delayed functional exercises, early functional exercises after arthroscopic rotator cuff repair did not have advantages on the improvement of joint function and range of motion, but also did not negatively affect cuff healing. Postoperative rehabilitation can be modified to ensure patient’s compliance.

Clinical analysis of post-stroke epilepsy in children / 中华实用儿科临床杂志

Objective To analyze the clinical features,treatment and prognosis of children with post-stroke epilepsy.Methods Sixty-nine children with epilepsy after cerebral stroke who were admitted to Guangdong General Hospital from Jan.2009 to Mar.2013 were retrospectively reviewed,including etiology,clinical features,laboratory examinations,treatment and prognosis.Results Among 260 stroke patients,69 of them (26.5 ％) developed epilepsy,but there was no significant difference between boys and girls(x2 =0.725,P =0.394).The incidence of post-stroke epilepsy differed significantly among different types (x2 =12.000,P =0.02),highest in the children with subarachnoid hemorrhage(47.8％,11/23 cases),followed by those with cerebral hemorrhage (34.6％,27/78 cases),and lastly,those with cerebral ischemia (19.5％,31/159 cases).Among them,53 patients developed seizures in the early stage (76.8％,53/69 cases),others in the late stage(23.2％,16/69 cases),early-onset epilepsy was more common in hemorrhagic stroke and late-onset epilepsy was more common in ischemic stroke,which differed significantly(x2 ＝ 4.778,P =0.029).The electroencephalogram background generally showed slow-wave in the early-onset epilepsy.The composition of seizure types differed significantly among different types of stroke (x2 =8.461,P =0.015).Forty-five of 58 patients (77.6％) suffered from cortical lesions and 13 of 58 patients (22.4％) suffered from subcortical lesions.Those children with post-stroke epilepsy who regularly use of antiepileptic drugs were followed up for 6 months to 4 years,81.2％ (56/69 cases)of clinical seizures were controlled.Conclusions The incidence of epilepsy after stroke is higher in children than in adults,cerebral stroke seizure occurs more commonly in cases with hemorrhagic stroke,especially with subarachnoid hemorrhage.Conventional antiepileptic treatment is effective.

Clinical outcome of cervical disc replacement in the treatment of cervical spondylotic myelopathy / 中国基层医药

Objective To study the effect of cervical disc replacement in the treatment of cervical spondylotic myelopathy(CSM).Methods 21 patients with CSM(17 cases of spondylotic myelopathy,2 cases of radiculopathy and 2 cases of acute soft disc herniation)were treated by anterior decompression and replaced by the Bryan cervical disc prosthesis. Results All cases were: followed for 4～12 months, average 8 months. The pre-operative JOA score was 8.5 and post-operative score was 15.5 on average. There were no prosthesis, curve was good. Replaced segment achieved stability and restored partial of normal ROM. There was no subsidence of implant and no worsening of pre-operative symptoms, post-operative 21 cases remained flexion/extension movement at replaced segments at latest follow up. There was no neck stiffness and restriction of movement complained by the patients. Conclusion The Bryan cervical disc replacement for the treatment of CSM has offered an excellent early clinical outcome.

Implement comprehensive practical teaching mode and strengthen the comprehensive ability of nursing students / 中国实用护理杂志

Objective To explore the substantial results of using comprehensive practical teaching mode and holistic nursing thinking method in the course of teaching fundamentals of nursing science,and then improve the vocational quality and ability of nursing students.Methods Randomly determined two classes as objectives: experiment class and control class.control class was adopt traditional practical teaching mode,experiment class was adopt comprehensive practical teaching mode in small community.Results Ability of standard operation,communication and knowledge were significant higher in experiment class than those of in control class.Conclusions Comprehensive practical teaching mode in small community has actual significance for strengthen the comprehendsive ability of nursing students.