Objective To evaluate the long-term effect after mechanical valve replacement in adult patients with small aortic root,and guide clinical practice.Methods From July 2003 to February 2005,36adult patients with small amtic root(diameter≤ 19 mm)received mechanical valve replacement,23 mm CarboMedics valve were implanted in 14 patients by using of Manougnian annulus enlargiW; technique(CM group),19 mm CarboMedics Top Hat Supra-Annular Aortic valve were implanted in 22 patients(CMSA group).All of the patients were examined for cardiac functions(CF),left ventricular end-diastolic diameter (LVDD),interventricular septal thickness(IVST),left ventricular posterior wall thickness(LVPWT),pressure gradients across aortic valve(PGav),and left ventricular fractional shortening(LVFS),calculating left ventricular ejection fraction(LVEF)before operation and 6 years after operation.Twenty healthy adults were as control group.Results Compared to the preoperation,there was no statistical difference in CMSA group in IVST[(10.37 ± 2.06)mm vs.(11.03 ± 2.45)mm]and LVPWT[(10.53 ± 2.18)mm vs.(11.24 ±degrees(P＜ 0.01 or ＜ 0.05).PGav in CM group was lower significantly than that in CMSA group after 6 years [(9.24 ±5.93)mm Hg(1 mm Hg =0.133 kPa)vs.(24.30 ± 12.50)mm Hg],the difference was statistically significant(P ＜ 0.05).The indicators in CM group were not statistically significant compared to control group,while CMSA group in IVST,LVPWT,PGav was significant difference(P ＜0.05).Conclusions The long-term effect after mechanical valve replacement is satisfied in adult patients with small aortic root,especially in left ventricular function.Line valve ring augmentation larger diameter valves implanted will help reverse the left vehicular morphology.

Objective To observe the clinical efficacy and safety of close-loop muscle relaxant injcction system (CLMRIS) combined with auditory evoked potentials index for monitoring in elderly patients during general anesthesia.Methods A total of 100 patients undergong abdominal operation with ASA Ⅰ-Ⅱ anesthesia in our hospital from February 2012 to October 2012 were selected.Patients were randomly divided into 2 groups:the traditional group (n=50) and the CLMRIS group (n=50).The traditional group was anaesthetized according to clinical experience,and the CLMRIS group was used with the muscle relaxant guided by the close-loop muscle relaxant injection system.The auditory evoked potential (AEP) index and the life index were observed,and the dose of muscle relaxant,the time of consciousness recovery,dynamic response rate during operation and the adverse reaction were recorded at the time points at entering the operating room,induction of anesthesia,tracheal intubation,incision,into the abdominal,exploration,closing abdomen,skin suture,consciousness recovery,tracheal extubation,out of room (T0-T10).Results The vital signs in all patients were stable.The dynamic response rate during operation was lower in the CLMRIS group than in the traditional group at each time points of T8-T10 (all P＜0.05).There was no increase in mean artery pressure (MAP) and heart rate in groups at the time points of T0-T1,T8-T10 (all P＞0.05).The time of tracheal intubation,tracheal extubation and consciousness recovery were shorter in the CLMRIS group than in the traditional group [(268±30.4) min vs.(172±23.7) min,(14±6.4) min us.(18±7.9) min,(8.8±2.9) min vs.(12.2±4.6) min,respectively,t=3.277,6.341,3.346,all P＜0.05].There were no significant differences in AEP index between groups at the time of T0 (P＞0.05),but at the time of T1,the AEP index was lower in CLMRIS group than in the traditional group (P＜0.05).Conclusions The application of close loop muscle relaxant injection system can improve the safety of general anesthesia in the elderly and reduce the incidence of postoperative residual paralysis.The CLMRIS combined with the auditory evoked potential for monitoring depth of anesthesia can prevent and reduce the incidence of intraoperative awareness,has a strong controllability in general anesthesia with smooth induction,and can reduce the dose of anesthetic drugs to achieve the best anesthetic effect.

Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

Objective To report the clinical, myopathological and genetic features of a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)/Leigh syndrome (LS) overlap syndrome who carried m.10158 T>C mutation. Methods The patient′s clinical and imaging materials were collected. An open biopsy of right biceps brachii was performed. DNA samples were prepared from the patient and her mother′s blood. Direct sequencing of the complete mitochondrial genome was performed to detect the mtDNA mutation.Western blotting was used to estimate the content of respiratory complexes in the patient′s muscle. Results The patient was a 40-year-old female. She had seizures and lost consciousness for 9 months. Brain MRI findings consisted of asymmetrical lesions in the cerebral cortex of the frontal and temporal lobes, as well as symmetrical lesions bilaterally in the basal ganglia. Muscle biopsy showed typical ragged red fibers. Direct sequencing of the complete mitochondrial genome from blood and muscle of the patient revealed the T-to-C transition at nucleotide position 10158 in the MT-ND3 gene.The mutation rate was 9.31% and 70.0%, respectively.Western blotting demonstrated that the contents of complexes Ⅰ and Ⅳ were significantly lower in the patient′s muscle mitochondria compared with the normal controls (53.1%±1.2% vs 88.6%±1.7%, t=4.08, P<0.05;57.3%±2.4% vs 80.1%±2.1%, t=3.39,P<0.05).Conclusion We reported a case of MELAS/LS overlap syndrome who carried m.10158 T>C mutation in MT-ND3 gene and DNA test is very important for the diagnosis of the disease.

OBJECTIVE To describe the clinical features of the parapharyngeal space tumors and assess the postoperative complications and outcomes in our hospital.METHODS The clinical data of 135 cases with parapharyngeal space tumor treated from Jan.1995 to Dec.2005 in our hospital were retrospectively studied.RESULTS It included 24 heterogeneous histologies in this group.Neurogenic tumors(72.6 %) were the most common tumors,next were salivary gland tumors(15.6 %),and others 11.8 % tumors were miscellaneous tumors.There were 121(89.6 %) patients with benign lesions and 14(10.4 %) with malignant tumors.Transcervical approach was the most commonly applied route.Only 4 cases recurred in 113 operated benign patients.At end of the follow-up,of 14 patients with malignant tumors,4(28.6 %) were alive with no evidence of disease,5(35.7 %) were alive with disease,5(35.7 %) died of the diseases.CONCLUSION Primary parapharyngeal space neoplasms are rare and the majority of these tumors are benign.Surgery is the mainstay of treatment for parapharyngeal space tumors.Most benign cases with a low rate of complication and recurrence after operation,but malignant neoplasms have a poor prognosis.

Objective: To apply DNA barcoding to identifying the rodents in Zhejiang Province. Methods : Rodents were captured from Jiashan,Longyou,Yunhe and Ninghai counties in Zhejiang Province. The DNA was extracted from ears of rodent samples,and was amplified and sequenced with mitochondrial cytochrome C oxidase subunit I（COI）genes. The obtained sequences were compared with the related sequences in GenBank,and neighbour-joining evolutionary tree was constructed. Then the results by DNA barcoding and by morphological identification were compared. Results : A total of 22 COI gene samples were amplified. The evolutionary tree constructed by 18 samples was consistent with the morphological identification results and 4 samples were different：Suncus murinus should be Crocidura lasiura,infant rats of Rattus losea and Rattus tanezumi was re-identified as Rattus rattus,infant rats of Microtus fortis（sample number：NH-1）needs further identification. Conclusion DNA barcoding can effectively correct the errors of morphological identification,thus combining the two methods could improve the accuracy of rodent identification.

Objective:To investigate the clinical, skeletal muscle pathological, and genetic characteristics of fatal infantile hypertonic myofibrillar myopathy (FIHMM).Methods:The clinical manifestations, laboratory assessments data and gene sequencing results of 10 patients diagnosed with FIHMM in Shenzhen Children′s Hospital from February 2017 to April 2021 were retrospectively analyzed.Magnetic resonance imaging (MRI) of both musculoskeletal system and the brain, and electromyogram (EMG) were performed in 3 cases, while muscle biopsy was performed in 2 cases.Results:Among these 10 cases, 1 case was from Northeast China and 1 case from East China, while the rest 8 cases were from South China.Eight of the 10 patients were male, and the other 2 cases were female.They were all born normal and not related to each other.The age of onset varied from 2 to 12 months.The main clinical manifestations for all the patients were progressive rigidity of the rectus abdominis (8 cases), neck muscles (7 cases), rectus abdominis (2 cases) and intercostal muscles (1 case), resulting in respiratory failure.Mildly to moderately elevated serum creatine kinase level was detected (436-5 804 IU/L) (reference range: 24-229 IU/L). Complex repetitive discharges can be seen in the EMG, without any myotonic potential.Muscle fiber degeneration, necrosis, and vacuolar degeneration were noted in the histopathological examination of the vastus lateralis and rectus abdominis.An abnormal red granular deposit was observed in a portion of the field of the modified Gomory Trichrome staining.Immunohistochemistry showed substantial deposition of desmin.Under the electron microscopy, the sarcomere structure of the muscle fibers was seriously disordered, with the destruction of Z-bands and the presence of granular deposits.The whole-exome sequencing identified the same homozygous variation c. 3G>A, p.Met1? of CRYAB gene in all the patients, but heterozygous variation in their parents. Conclusions:Axial muscles involvement, such as rectus abdominis rigidity, is the main clinical characteristic of FIHMM.c.3G>A, p.Met1? mutation in the CRYAB gene is a hotspot mutation in Chinese children.

OBJECTIVETo identify potential mutation of the GCH1 gene in a Chinese family affected with dopa-responsive dystonia.

METHODSGenomic DNA of patients was extracted from peripheral blood samples. The 6 exons of the GCH1 gene and at least 100 bp of flanking intronic sequences were amplified with PCR. Potential mutations were screened by direct sequencing. Identified mutation was verified with denaturing high performance liquid chromatography (DHPLC) in 100 healthy controls.

RESULTSAll patients were found to be heterozygous for a novel c.597delT (p.Ala200LeufsX5) deletion in the exon 5 of the GCH1 gene. The deletion of T has resulted in formation of a shorter (203 amino acids) truncated non-functional guanosine triphosphate cyclohydrolase I. The same mutation was not found in the 100 controls.

CONCLUSIONA novel GCH1 gene frameshifing mutation probably underlies the dopa-responsive dystonia in this Chinese family.

Adolescent ; Adult ; Base Sequence ; Child ; Dystonic Disorders ; enzymology ; genetics ; Exons ; Female ; Frameshift Mutation ; GTP Cyclohydrolase ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Pedigree ; Young Adult

Objective:To establish autoverification rules for coagulation tests in multicenter cooperative units, in order to reduce workload for manual review of suspected results and shorten turnaround time (TAT) of test reports, while ensure the accuracy of results.Methods:A total of 14 394 blood samples were collected from fourteen hospitals during December 2019 to March 2020. These samples included: Rules Establishment Group 11 230 cases, including 1 182 cases for Delta check rules; Rules Validation Group 3 164 cases, including 487cases for Delta check; Clinical Application Trial Group 77 269 cases. Samples were analyzed for coagulation tests using Sysmex CS series automatic coagulation analyzers, and the clinical information, instrument parameters, test results, clinical diagnosis, medication history of anticoagulant and other relative results such as HCT, TG, TBIL, DBIL were summarized; on the basis of historical data, the 2.5 and 97.5 percentile of all data arranged from low to high were initially accumulated; on the basis of clinical suggestions, critical values and specific drug use as well as relative guidelines, autoverification rules and limits were established.The rules were then input into middleware, in which Stage I/Stage II validation was done. Positive coincidence, negative coincidence, false negative, false positive, autoverification pass rate, passing accuracy (coincidence of autoverification and manual verification) were calculated. Autoverification rules underwent trial application in coagulation results reports.Results:(1) The autoverification algorisms involve 33 rules regarding PT/INR, APTT, FBG, D-dimer, FDP,Delta check, reaction curve and sample abnormalities; (2)Autoverification Establishment Group showed autoverification pass rate was 68.42% (7 684/11 230), the false negative rate was 0%(0/11230), coincidence of autoverification and manual verification was 98.51%(11 063/11 230), in which positive coincidence and negative coincidence were respectively 30.09% (3 379/11 230) and 68.42%(7 684/11 230); Autoverification Validation Group showed autoverification pass rate was 60.37%(1 910/3 164), the false negative rate was 0%(0/11 230), coincidence of autoverification and manual verification was 97.79%(3 094/3 164), in which positive coincidence and negative coincidence were respectively 37.42%(1 184/3 164) and 60.37%(1 910/3 164); (3) Trialed implementation of these autoverification rules on 77 269 coagulation samples showed that the average TAT shortened by 8.5 min-83.1 min.Conclusions:This study established 33 autoverification rules in coagulation tests. Validation showedthese rules could ensure test quality while shortening TAT and lighten manual workload.