Objective To summarize the pattern and main characteristics of fatal cases related to medical disputes in Yancheng area. Methods Sixty fatal cases of medical disputes were retrospectively analyzed to elucidate the annual incidence, characters of distribution of hospitals, gender and age of the decedents, types of diseases, and cause of death. Results Among 60 fatal cases, most cases happened in health clinics of county, township and village. There were more males than females. The major medical specialties in-volved included internal medicine, surgery, gynecology and pediatrics, with the internal medicine specialty having the highest incidence. Conclusion Police institutions have advantages in investigation of these cas-es in their jurisdictions, which could enhance the ability of local medicolegal examination.

Objective To investigate the timing and role of systemic retroperitoneal lymphadenectomy in patients with ovarian cancer. Methods From Jan. 1987 to Feb. 1994, 50 patients with ovarian cancer, who underwent retroperitoneal lymphadenectomy on second-look laparotomy (SLL), were retrospectively studied. Results The median age was 49 years. Overall survival at 3 and 5 years were 72% and 62%, respectively. Twenty of 50 (40%) women were found SLL(+),and the rates of positive SLL were related to International Federation of Gynecology Obstetrics (FIGO) stage, with 16% in stage ⅠandⅡ, 64% in stage Ⅲ and Ⅳ (P

To determine the effect of pre-operative chemotherapy on apoptosis in breast cancer and to evaluate its signif icance as a prcgnostic marker. MethodsPatients with breast cancer were divided into preoperative chemotherapy group (40 cases)and control group (42 cases). Two groups were analyzed for the appearance of apoptosis by using TUNEL method and electron mi croscope in tissue sections. ResultsApoptosis occurred in 92.5 % of preoperative chemotherapy group and in 78.5 % of control group. The apoptotic indexes were 19.37 + 6.49 and 9.26 + 5.04 ( P ＜ 0.01 ) respectively. Low apoptotic index was related to disease-free survival of patients with breast cancer (P ＜ 0.01 ). ConclusionThe preoperative chemotherapy can induce apoptcsis of breast cancer and improve disease-free survival.

Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients (6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration) and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.

In this study, sonography video urodynamic studies (SVUDS), which combined synchronically urodynamic studies with trans-perineal and trans-abdominal sonography, were used to detect female bladder outlet obstruction (FBOO). The dynamic changes of urethra and surrounding pelvic floor structure during storage and voiding phase were observed by SVUDS and the causes of FBOO were analyzed. And the findings were as follows: 13 patients showed organ prolapse, there was an urethral angulation deformity during urination; 5 cases had abnormal urination as the urethral opening was not good in the middle of urination period; 4 cases had urethral stricture, as the proximal end of the obstruction dilated during urination, and the obstruction site showed no relaxation; 1 case had primary bladder neck obstruction with an incomplete opening of the bladder neck during urination; 3 cases had idiopathic bladder outlet obstruction and the sphincter of bladder neck and urethra opened well during urination.

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

Objective To investigate the effect of docosahexaenoic acid (DHA) on the sensitivity of esophageal carcinoma cell line EC9706 to cisplatin and the mechanism behind this effect.Methods EC9706 cells were randomly divided into 5 groups:control group,DHA group,cisplatin (DDP) group,DHA+DDP group and endoplasmic reticulum stress (ERS) activation tunicamycin (TM) group (DHA+DDP+TM group).MTT method was used to evaluate inhibition ratio of cell proliferation.The apoptotic ratio was examined by flow eytometry.Western blot was used to detect the protein expressions of apoptosis cytokines (caspase-3 and Bcl-2) and ERS cytokines [glucose-regulated protein 78 (GRP78) and inositol-requiring enzyme 1 (IRE-1)].Results DHA causes concentration-dependent and time-dependent inhibition of the proliferation of EC9706 cells (P=0.00).DHA significantly enhanced the sensitivity of esophageal carcinoma cell line EC9706 to cisplatin.Compared to DDP treatment alone,the inhibition ratio [(60.19±5.05)％ vs.(36.72±3.52)％,P=0.02] and apoptotic ratio [(54.88±4.94)％ vs.(39.74±4.64)％,P=0.03] of EC9706 cells were enhanced by DHA+DDP treatment.Western blot showed that the expression of apoptotic factor caspase-3 protein was increased by DHA+DDP treatment.Meanwhile,the protein expressions of anti-apoptotic factor (Bcl-2) and ERS-related factors (GRP78 and IRE-1) were significantly inhibited by DHA+DDP treatment (P=0.01).However,the salutary effects of DHA were reversed by ERS activation tunicamycin.Conclusion DHA enhances the sensitivity of esophageal carcinoma cell line EC9706 to cisplatin,the mechanism of which may be the suppression of ERS response.

Objective:To explore the practical value of general anesthesia with non-intubated spontaneous breathing in uniportal thoracoscopic surgery in elderly patients.Methods:Clinical data of 86 elderly patients undergone uniportal thoracoscopy surgery during hospitalization at our hospital between March 2020 and December 2021 were retrospectively reviewed and analyzed.Based on the anesthesia intubation method, they were divided into a non-intubated spontaneous breathing video-assisted thoracic surgery group(NI-VATS group)and a one-lung ventilation video-assisted thoracic surgery group(OLV-VATS group), with 43 cases in each group.Data were compared on the inflammatory indexes, preparation time for anesthesia, time to awakening after anesthesia, intraoperative lung collapse score, mediastinal flutter score, time to postoperative feeding, digestive tract complications, sore throat, postoperative pulmonary atelectasis, and hospitalization time.Results:Compared with the OLV-VATS group, the NI-VATS group had a shorter anesthesia preparation time [(19.8±2.6)min vs.(32.3±4.5)min, t=-15.77, P<0.001]and a shorter time to awakening [(6.8±2.1)min vs.(11.9±2.9)min, t=-9.485, P<0.001], slightly poorer operating field during surgery, an unfavorable lung collapse score [(2.5±0.7) vs.(1.8±0.7) t=4.704, P<0.001], worse mediastinal flutter [(2.1±0.6) vs.(1.3±0.5), t=6.514, P<0.001]. Lower procalcitonin(PCT)[(0.189±0.130)μg/L vs.(0.264±0.123)μg/L, t=-2.744, P=0.007), a shorter time to postoperative feeding [(3.4±1.0)h vs.(5.5±1.0)h, t=-9.55, P<0.001], and lower rates of digestive tract reactions(4.7% vs.20.9%, χ2=5.108, P=0.024)and throat pain(4.7% vs.23.3%, χ2=6.198, P=0.013), and a shorter length of hospital stay [(3.8±0.3)d vs.(4.9±0.8)d, t=-7.266, P<0.001]. Conclusions:For the elderly patients undergoing uniportal thoracoscopic surgery, non-intubated spontaneous breathing may somewhat obstruct the operating field, but it can shorten the time of anesthesia and the time to awakening, does not increase complications from anesthesia and surgery, favors rapid postoperative recovery for patients and therefore should be promoted.

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics