Diabetic cardiomyopathy(DCM) is a type of primary cardiomyopathy caused by diabetes, changing in the structure and function of the myocardium, which is distinguished from secondaiy cardiomyopathy resulted from coronary atherosclerosis, hypertension, and viruses. Phosphatidylinositol 3-kinase (PI3K)/Akt is an important signal transduction pathway in human body involved in the growth and reproduction of body. Regulatory factors of the PDK/Akt signaling pathway include silencing information regulator 1, homologous phosphatase-tensin, glycogen synthase kinase 3(3 and the rapamycin target protein. The role of PDK/Akt signaling pathway in the pathogenesis of DCM includes regulating blood sugar level, regulating lipid metabolism, protecting endothelial cells, reducing inflammatory response , improving cardiac function, resisting fibrosis, and regulating myocardial apoptosis. The development of PI3K-Akt signaling pathway inhibitors provides the possibility for PDK-Akt pathway targeted therapy. This article reviews the progression of the PDK/Akt pathway in DCM.

Objective To investigate the clinical significance of generalized epilepsy with febrile seizures plus(GEFS+ ). Methods The data of one family with GEFS+ were retrospectively analyzed by studying clinical manifestations, physical examinations, electroencephalogram(EEG), 24 hours dynamic EEG monitoring, et al. Some of the patients were examined by CT. Results Ⅳ 12, her chief complaints when admitted to hospital were frequent spasm for 3 days. She began to appear febrile seizures (FS) from 8 months after birth, and frequent generalized tonic - clonic FS appeared during that time. There were 36 people in 5 generations of the family including 14 patients (8 males and 6 females) ,aged from 4 years and 5 months to 82 years. FS presented in 8 cases (Ⅱ 2, Ⅲ1, Ⅲ4, Ⅲ6, Ⅳ1, Ⅳ11, Ⅳ17, Ⅴ2),febrile seizures plus(FS +) in 4 cases ( Ⅳ2, Ⅳ12, Ⅳ13, Ⅳ14), ES + and absence seizures in 1 case ( Ⅴ1 ), uncertain type in 1 case (Ⅰ2). The results of EEG indicated that 12 cases were normal and 4 cases with FS+ and 1 case with absence seizures had epileptic discharges. Apart form Ⅳ13, Ⅳ14 who were treated with magnesium valproate, the dosage for the other patients decreased, or medicine terminated or without medicine, and all the patients had no recurrence of seizures. The intelligence, movement development and neurological examinations of the family were all normal. Head CT scan of 3 cases were normal. Conclusions GEFS+ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity. The apprehension of GEFS+ plays an important role in diagnosis and differential diagnosis of epilepsy in childhood.

Objective To analyse the follow-up of one family with generalized epilepsies with febrile seizures plus (GEFS +).Methods We conducted a family with GEFS + by sexs,ages, seizure manifestation,electroencephalogram (EEG),and so on.Results There were 36 people in 5 generations of the family in all,including 14 patients(8 cases were male and 16 cases were female).Their ages were from 4 years and 5 months to 8 years.There were 8 cases febrile seizures (FS),4 cases with FS + and 1 case with FS + and absence seizures in 13 patients except 1 case without adequate knowledge.The Results of ECG indicted that 12 cases were normaland 4 cases with FS + and 1 case with absence seizures had epileptic discharges.Conclusions GEFS + is a common kind of inherited epilepsic syndrome and occur in childhood.So it is greatly important for epileptic children to know GEFS +

Abstract: Objective　To explore the carrying status of four common deafness genes and mutations on 10 loci in newborns in Hainan, and to analyze the molecular epidemiological characteristics of deafness genes and their loci, so as to provide scientific basis for formulating neonatal deafness gene screening strategy and promoting children's hearing health in Hainan. Methods　Newborns born in Hainan from January 2020 to December 2021 were selected as the research objects. The demographic characteristics of the research objects were collected. At the same time, the plantar blood of newborns was collected, and multiplex PCR amplification and directed hybridization combined with high-throughput sequencing technology were applied to detect 10 mutation loci on 4 common deafness genes. T-test or chi square test was used to process the data. Results　A total of 7 124 newborns were included in the study through informed consent, 219 cases of deafness gene mutation were detected with the detection rate of deafness gene of 3.07%. The detection rates of GJB2, SLC26A4, MT-RNR1 and GJB3 were 1.56% (111/7 124), 1.18% (84/7 124), 0.21% (15/7 124) and 0.11% (8/7 124) respectively. Among the 10 loci of the four genes, the positive detection rate of c.235delC locus of GJB2 was the highest, which was 1.38% (98/7 124), followed by c.919-2A>G of SLC26A4 (0.87%, 62/7 124); 2.63% (113/4 289) of the newborns who passed the preliminary hearing screening still carried the deafness gene; in terms of gene type, the detection rate of GJB2 gene in newborns who failed the hearing screening was higher than that in newborns who passed the hearing screening [2.23% (63/7 124) vs 1.12% (48/7 124)，P<0.01]; in terms of gene loci, the detection rate of c.235delC locus in newborns who failed hearing screening was higher than that in newborns who passed hearing screening [2.09% (59/7 124) vs 0.91% (39/7 124)，P<0.01]. Conclusion　The most common deafness genes types in Hainan were GJB2 and SLC26A4; The most common gene mutation sites were c.235delC and c.919-2A>G; 2.63% of the newborns who passed the preliminary hearing screening still carried the deafness gene, among which the high-risk newborns with MT-RNR1 and GJB3 genes were found. Therefore, hearing screening should be combined with deafness gene screening to improve the detection rate of children at high risk of hearing loss.

Objective To retrospectively compare the safety and local efficacy of multiple-electrode switching based radiofrequency ablation (RFA) and the conventional RFA in treating single early-stage hepatocellular carcinoma (HCC).Methods A total of 82 patients with single early-stage HCC received either RFA with a multiple-electrode switching system (n =43) or conventional RFA (n =39) as the first-line treatment.The rate of initial local complete response,major complications and local tumor progression (LTP) were compared between two groups.Results The total ablation time was significantly shorter in the switching-RFA group [(16.7 ± 3.4) mins] than in the conventional RFA group [(29.8 ± 10.4) mins] (P ＜ 0.05).The rate of initial local complete response was 100％ (43/43) in the switching-RFA group and 94.9％ (37/39) in the conventional RFA group (P ＞0.05).After a mean follow-up period of (26.4 ± 21.8)months (ranging 3.0-91.6 months),the rates of LTP in the switching-RFA group and conventional RFA group were 16.3％ (7/43) and 17.9％ (7/39),respectively.The LTP rates in two groups were 16.1％ versus 11.2％ atyear1,and20.5％ versus 20.6％ at year2 (P=0.666).Conclusions The multiple-electrode switching based RFA is safe and effective with shorter ablation time in treating single early-stage hepatocellular carcinoma.

ObjectiveTo investigate the diagnostic value of EUS-FNA for pancreatic masses and correlated influential factors. MethodsWe retrospectively analyzed the clinical data of 101 patients with pancreatic lesions who underwent EUS-FNA from January 2008 to January 2010. The clinical data enrolled 10 factors including patient gender, patient age, lesion location, lesion size, lesion characteristics, negative suction pressure, times of access, real-time cytological diagnosis, type of EUS and operators' experiences.ResultsThe overall diagnostic accuracy, sensitivity, specificity, positive predictive value and negative predictive value of EUS-FNA were 85. 1％, 81.1％, 96. 3％, 98. 4％ and 65.0％, respectively. Univariable logistic regression analysis indicated that lesion size, lesion characteristics, negative suction pressure, operators' experience were correlated factors of EUS-FNA positive rate, while lesion size was the only correlated factor of EUS-FNA diagnostic accuracy ( OR =1. 984,95 ％ CI: 1. 141 ～ 3. 451, P =0. 015 ). Every 1 cm the lesion increased, by 1.67 times of opportunity the positive rate became, by 1.83 times of opportunity the accuracy was. The lesion size and lesion characteristics were independent correlated factors of EUS-FNA positive rate (OR=2.012, P=0.000; OR =10.218, P=0. 002). The positive rate of EUS-FNA in solid lesions was 10. 2 times of that in cystic lesions. Lesion size was the independent correlated factors of EUS-FNA diagnostic accuracy (OR =1. 984, P =0. 015 ). ConclusionEUS-FNA can effectively make a pathological diagnosis of pancreatic masses with high diagnostic accuracy and specificity. EUS-FNA diagnostic positive rate and accuracy were both positively correlated with pancreatic lesion size. EUS-FNA positive rate of solid pancreatic lesions is significantly higher than that of cystic lesions.

Objective To investigate the neuroimaging features in mitochondrial encephalomyopatbies with lactic acidosis and stroke-like episodes(MELAS).Methods Twenty-two clinically diagnosed patients who came from department of neurology,Huashan hospital in October 2003 to July 2006 were analyzed for CT,MRI,MRI contrast,MRA and MRS.Results In all 22 patients,the neuroimaging results of 21 were positive.There were 9 patients lying in hemisphere,12 in both cerebral hemispheres,including occipital,parietal,temporal and frontal lobe.The abnormal areas showed low signal intensity on T_1-weighted MRI,high signal intensity on T_2-weighted MRI and fluid attenuated inversion recovery(FLAIR)images.The lesions of 12/16 patients on MR contrasted images were enhanced.The lesions of one patient showed malacoma-like changes,one showed Fahr syndrome' s change and another showed high signal intensity on MR contrasted images.Conclusion Although the neuroimaging features of MELAS are complicated,the specific ones could help to make the diagnosis.

BACKGROUND: Surgical guides designed based on a three-dimensional cone-beam CT (CBCT) model have been reported. However, CBCT cannot remodel fine soft tissue such as gums, and it can only be used to design a simple dental retainer with relatively poor stability. OBJECTIVE: To establish a high-precision three-dimensional (3D) integrated maxillodental model by matching CBCT model with 3D digital maxillodental model using 3D automatic registration method, based on which, we designed and manufactured individualized miniscrew surgical guides. METHODS: CBCT maxillodental models and laser-scanned dentition models obtained from six malocclusion cases were matched and overlapped using the 3D automatic registration method to fabricate the 3D integrated maxillodental model. Then, we accurately positioned and virtually implanted a micro-implant into the 3D integrated maxillodental model. Subsequently we prepared a high-precision individualized resin surgical guide by rapid prototyping technology. The inner diameter of the guide track was detected by a vernier caliper. Patients tried on the resin surgical guide, and then occlusion condition, guide seating and retention were detected. RESULTS AND CONCLUSION: Due to the high-precision registration of the model, all the resin surgical guide plates were suitable. The plate retention was enhanced after tooth clinching, and all the patients felt comfort when wearing the surgical guide plate, with no compression or other discomforts. The inner diameter of the guide track was (1.79±0.23) mm, and the measurement error was not statistically significant (P >0.05). These findings demonstrate that the high-precision surgical guide plate based on the high-precision 3D integrated model can provide the foundation for further investigations on the clinical application of surgical guides.

OBJECTIVETo explore the effects of n-hexane on expression of serum myelin proteins (MBP) in workers occupationally exposed to n-hexane.

METHODSIn this study, 269 workers exposed to n-hexane for more than one year and 104 subjects not exposed to n-hexane served as the exposure group and the control group, respectively. The urinary 2,5-hexanedione levels in all subjects were detected. On the basis of urinary 2,5-hexanedione levels, the exposure group was divided into the high exposure sub-group and low exposure sub-group. The serum myelin basic protein (MBP) levels were measured by ELISA kit.

RESULTSThe mean concentration of urinary 2,5-hexanedione in the exposed group was (3.10 +/- 1.35) mg/L. The concentration of urinary 2,5-hexanedione in the control group was undetectable. The levels of serum MBP in the high exposure sub-group and low exposure sub-group were (2.43 +/- 0.24) and (1.62 +/- 0.23) microg/L, respectively, which were significantly higher than that (0.78 +/- 0.12) microg/L in the controls (P < 0.01). Pearson correlation analysis showed the positive correlation between serum MBP levels and urinary 2,5-hexanedione levels (r = 0.781, P < 0.01).

CONCLUSIONThe results of present study showed that the serum MBP levels of workers occupationally exposed to n-hexane significantly elevated, and the serum MBP can serve as the effective biomarker of n-hexane exposure.

Adolescent ; Adult ; Case-Control Studies ; Female ; Hexanes ; adverse effects ; Humans ; Male ; Myelin Basic Protein ; blood ; Occupational Exposure ; Young Adult

OBJECTIVETo optimize the preparation process of gemcitabine polybutylcyanoacrylate nanoparticles (GCTB- PBCA-NP).

METHODSAccording to the particle size, the entrapment efficiency and the loading quantity of GCTB-PBCA-NP, single factor analysis was carried out to optimize the component composition and preparation process based on an orthogonal design.

RESULTSThe mean particle size of the NP was (112-/+9) nm with an entrapment efficiency of (54.12-/+2.43)% and drug loading of (11.08-/+0.89)%.

CONCLUSIONAn optimized nanoparticular drug delivery system is obtained by emulsion polymerization.

Chemistry, Pharmaceutical ; Deoxycytidine ; analogs & derivatives ; chemical synthesis ; Drug Delivery Systems ; Enbucrilate ; chemical synthesis ; Nanoparticles ; chemistry