Objective To explore the clinical method and effect of ultrasonic osteotomy in mandibular angle reduction.Methods Under intronasal approach and general anesthesia,30 patients (5 male patients and 25 female patients) underwent intraoral prominent mandibular angle reductions with ultrasonic osteotomy.The jaw bone under periosteum was explored and the mental nerves protected.According to the clinical features of mandibular angle,curved mandibular angle osteotomy,mandible margin osteotomy or outer cotex splitting osteotomy were performed.Results All the osteotomy of prominent mandibular angle reductions could be completed with ultrasonic osteotomy.There were no complications of bleeding,nerve injury and malfracture happened.After 1 year following-up,the outlines of lower mandible were natural and concordant.Compared with traditional osteotomy devices,ultrasonic osteotomy was smoother and more precisely.Conclusions Ultrasonic osteotomy can improve the precise and safty of mandibular angle reduction.but compared with traditional osteotomy devices,it takes more time for osteotomy procedure.Surgeons need adapt to the different feeling and control methods.

Objective To explore the management model of chronic disease like myocardial infarction through the effect of collaborative work pattern of doctors and nurses on acute myocardial infarction patients with percutaneous coronary intervention(PCI) after 1 year follow up.Methods A total of 852 patients from October 1,2011 to September 30,2013 with collaborative work pattern of doctors and nurses were as collaborative work pattern group,and 734 patients without collaborative work pattern of doctors and nurses at the same time were as control group.The patients were followed up for 1 year.The differences of treatment compliance,risk factors control,and the incidence of cardiovasc~ar events were compared between collaborative work pattern group and control group.Results The improvement of treatment compliance in collaborative work pattern group was better than that in control group.The improvement rate of improve lifestyle initiatively,completely medication,check regularly were 83.3％(710/852),97.9％(834/852),75.4％(642/852) in collaborative work pattern group and 63.5％(466/734),93.7％(688/734),59.0％(433/734) in control group,x2=81.02,17.57,26.22,P＜0.01.The control rate of risk factors including hypertension,diabetic mellitus,high blood low density lipoprotein cholesterol were 78.5％ (252/321),68.4％ (214/313),84.8％ (491/579) in collaborative work pattern group and 55.8％ (168/301),58.1％ (168/289),79.9％ (381/477) in control group,x2=36.47,6.79,4.41,P＜0.01 or ＜0.05.The incidence of treatment compliance and total cardiovascular events in collaborative work pattern group were better than those in control group.There were significant differences in the above indices,P＜0.05.Conclusions Collaborative work pattern of doctors and nurses is an effective method and supplement for patients with myocardial infarction after PCI to improve treatment compliance and control risk factors.The prognosis of patients can be improved and this pattern is an effective exploration of chronic disease management.

Objective To investigate the value of array-based comparative genomic hybridization (array-CGH) technique for the detection of chromosomal analysis of miscarried embryo, and to provide genetic counseling for couples with spontaneous abortion. Methods Totally 382 patients who underwent miscarriage were enrolled in this study. All aborted tissues were analyzed with conventional cytogenetic karyotyping and array-CGH, respectively. Results Through genetic analysis, all of the 382 specimens were successfully analyzed by array-CGH (100.0%, 382/382), and the detection rate of chromosomal aberrations was 46.6% (178/382). However, conventional karyotype analysis was successfully performed in 281 cases (73.6%, 281/382), and 113 (40.2%, 113/281) were found with chromosomal aberrations. Of these 178 samples identified by array-CGH, 163 samples (91.6%, 163/178) were aneuploidy, 15 samples (8.4%, 15/178) were segmental deletion and (or) duplication cases. Four of 10 cases with small segmental deletion and duplication were validated to be transferred from their fathers or mathers who were carriers of submicroscopic reciprocal translocation. Of these 113 abnormal karyotypes founded by conventional karyotyping, 108 cases (95.6%, 108/113) were aneuploidy and 5 cases (4.4%, 5/113) had chromosome structural aberrations. Most array-CGH results were consistent with conventional karyotyping but with 3 cases of discrepancy, which included 2 cases of triploids, 1 case of low-level mosaicism that undetcted by array-CGH. Conclusions Compared with conventional karyotyping, there is an increased detection rate of chromosomal abnormalities when array-CGH is used to analyse the products of conception, primarilly because of its sucess with nonviable tissues. It could be a first-line method to determine the reason of miscarrage with higher accuracy and sensitivity.

Objective To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drug-responsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no signiifcant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drug-responsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.

OBJECTIVETo analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.

METHODSThe karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.

RESULTSNo karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.

CONCLUSIONThe child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.

OBJECTIVE: To explore the molecular mechanism of a girl with developmental delay and intellectual disability. METHODS: Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions. RESULTS: No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child. CONCLUSION The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 17 ; genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotyping ; Smith-Magenis Syndrome ; genetics

Objective:To evaluate the recurrence patterns of esophageal squamous cell carcinoma (ESCC) after radical surgery and analyze the predictors of post-recurrence survival (PRS).Methods:A total of 382 ESCC patients who developed recurrence after radical surgery were retrospectively reviewed from January 2007 to December 2011. All of them received salvage treatment after recurrence. The Univariate analysis was determined using the Kaplan-Meier method and log-rank test. Multivariate prognostic analysis was determined using the Cox proportional hazard model.Results:The 1-, 3-, 5-year overall survival (OS) rates were 80.9%, 35.6% and 20.4%, respectively. The median survival time and recurrence time were 29.2 months and 15.0 months. The 1-, 3-, 5-year PRS rates were 37.7%, 14.6% and 11.9%, respectively. The median PRS time was 10.2 months. Locoregional recurrence was noted at 462 sites among 382 patients including 20.5% (95/462) of sites in supraclavicular LN (lymph node), 10.0% (46/462) in anastomosis, 56.1% (259/462) in mediastinal regional LN and 13.4% (62/462) in upper abdominal LN. There were 156, 43, 82 and 101 patients treated with salvage radiotherapy, chemotherapy, chemoradiotherapy and palliative care after recurrence, respectively. The univariate analysis showed that T stage, N stage, TNM stage, recurrence site, number of recurrent regions and treatment regimen after recurrence were significantly correlated with PRS ( χ2=5.336, 4.292, 8.067, 7.482, 4.093, 76.426, P<0.05). Patients receiving salvage radiotherapy with the median dose of 60 Gy, were divided into <60 Gy group and ≥ 60 Gy group. The ≥60 Gy group had a better PRS than <60 Gy group ( χ2=8.320, P<0.05). Multivariate analysis showed that number of recurrent regions and treatment regimen were independent prognostic factors of PRS. Conclusions:Mediastinal and supraclavicular regions were the most common sites of recurrence in ESCC patients after radical surgery. Salvage radiotherapy and chemoradiotherapy could significantly improve PRS in recurrent ESCC patients.

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome. METHODS: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger sister were collected. Genomic DNA was extracted from peripheral venous blood and chorionic villi samples. Chromosomal abnormalities were detected with chromosomal microarray analysis (CMA). Whole exome sequencing (WES) and Sanger sequencing were carried out to detect candidate variants in the proband. With RNA extracted from the peripheral blood samples, VPS13B gene transcripts and expression were analyzed by PCR and real-time quantitative PCR. Prenatal diagnosis was carried out at 12 weeks' gestation. RESULTS: The proband was a 10-year-old female with clinical manifestations including development delay, obesity, severe myopia and peculiar facial features. Her sister was 3 years old with a similar phenotype. CMA revealed no chromosomal abnormality in the proband, while WES results revealed that the proband and her sister had both harbored compound heterozygous variants of the VPS13B gene, namely c.10076_10077delCA (p.T3359fs*29) and c.6940+1G>T, which were respectively inherited from their mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PS4+PM4+PP1; PVS1+PM2_Supporting+PM3+PP1). In vivo splicing assay confirmed that the c.6940+1G>T variant has produced a frameshift transcript with skipping of exon 38. Compared with the control group, the expression of RNA in the peripheral blood of the proband's parents has decreased to 65% ~ 70% (P < 0.01), whilst that in the proband and her sister has decreased to 40% (P < 0.001). Prenatal diagnosis at 12 weeks of gestation has found that the fetus only harbored the heterozygous c.10076_ 10077delCA variant. CONCLUSION The c.10076_10077delCA (p.T3359fs*29) frameshift variant and c.6940+1G>T splicing variant probably underlay the Cohen syndrome in this pedigree. Genetic testing has facilitated the diagnosis of this disease.
Female ; Humans ; East Asian People ; Intellectual Disability/genetics* ; Mutation ; Myopia/genetics* ; Pedigree ; Vesicular Transport Proteins/genetics* ; Child, Preschool ; Child

With continuous advancements in medical technology, the tools and techniques for intravenous therapy and infusion are also evolving and innovating. This paper summarizes and analyzes the current application status of intravenous therapy infusion tools and techniques, thus providing deep reflections and suggestions to serve as a beneficial reference and guide for the development of these tools and techniques in China.

Objective To investigate the current state of quality management on intravenous therapy in secondary and tertiary hospitals in China.This study aims to provide a reference for the development of relevant policies,promoting the professionalization,standardization,and homogenization of intravenous therapy.Methods By a convenience sampling method,intravenous therapy nursing managers from secondary and tertiary hospitals in 31 provinces,autonomous regions,and municipalities were selected as survey participants in November 2023.A self-designed questionnaire was used for the survey.Results A total of 2 129 questionnaires were collected,of which 1,926 were valid,resulting in a response rate of 90.47％.Among the 1926 hospitals,1 733(89.98％)had established quality evaluation standards for intravenous therapy,and 1 734(90.03％)conducted regular quality inspections for intravenous therapy or peripherally inserted central catheter(PICC)insertion and maintenance.Additionally,1 604 hospitals(83.28％)had established protocols for handling and reporting intravenous therapy or PICC-related complications,and 1 574 hospitals(81.72％)regularly collected and analyzed data related to intravenous therapy or PICC insertion and maintenance.Moreover,371 hospitals(19.26％)had implemented intravenous therapy information management systems.Regarding various types of intravenous therapy documents,the highest rate of document types was informed consent forms,with a compliance rate of over 80.00％,followed by insertion records and catheter maintenance records,respectively.The lowest rate was complication management records,with a compliance rate of less than 50.00％.For catheter maintenance protocols,the highest compliance rate was for maintenance procedures,at over 85.00％,followed by insertion procedures.Except for PICCs,the compliance rate for establishing catheter removal and complication management procedures for other types of catheters was less than 65.00％.In terms of quality management of intravenous therapy,there are significant differences between secondary and tertiary hospitals.Conclusion The quality evaluation standards for intravenous therapy are relatively comprehensive,but the informatization of intravenous therapy quality management is still underdeveloped.Furthermore,there is a need to further standardize the documentation and procedures related to intravenous therapy,and there are differences in the level of intravenous therapy management among hospitals of different levels.