Construction of three image recognition models of manikin′s glottis using visual laryngoscopy based on deep-learning algorithm / 中华麻醉学杂志

Objective:To construct three image recognition models of manikin′s glottis using visual laryngoscopy based on deep-learning algorithm.Methods:The tracheal intubation manikin′s epiglottis was visualized using a videolaryngoscope, and then epiglottis was elevated to expose the glottis and acquire glottic images. A total of 149 images were obtained from various angles and orientations and randomly divided into training set and test set, and the annotation of image data was completed. Three glottal image recognition models of CenterNet, YOLOv3 and YOLOv4 were developed. The training set was used to complete the training of the models, and finally the test set was used to evaluate the model performance.Results:CenterNet, YOLOv3 and YOLOv4 three models were successfully constructed, the mean average precision of CenterNet, YOLOv3 and YOLOv4 was 92.33%, 89.52% and 89.02% respectively, the recall rates were 87.50%, 90.00% and 90.00% respectively, the precision rates reached 97.22%, 94.74% and 94.74% respectively, and the accuracy rates were 90.91%, 85.11% and 88.89% respectively. All three algorithms demonstrated an identical F1 score of 91.00%.Conclusions:The CenterNet, YOLOv3 and YOLOv4 models are successfully constructed, and three recognition models can accurately identify the glottis in the image, with the CenterNet model demonstrating the highest recognition precision.

Morin induces autophagy and apoptosis in hepatocellular carcinoma cells through Akt/mTOR/STAT3 pathway / 中国中药杂志

This study investigated the effect and mechanism of morin in inducing autophagy and apoptosis in hepatocellular carcinoma cells through the protein kinase B(Akt)/mammalian target of rapamycin(mTOR)/signal transducer and activator of transcription protein 3(STAT3) pathway. Human hepatocellular carcinoma SK-HEP-1 cells were stimulated with different concentrations of morin(0, 50, 100, 125, 200, and 250 μmol·L~(-1)). The effect of morin on the viability of SK-HEP-1 cells was detected by Cell Counting Kit-8(CCK-8). The effect of morin on the proliferation and apoptosis of SK-HEP-1 cells was investigated using colony formation assay, flow cytometry, and BeyoClick~(TM) EdU-488 with different concentrations of morin(0, 125, and 250 μmol·L~(-1)). The changes in the autophagy level of cells treated with morin were examined by transmission electron microscopy and autophagy inhibitors. The impact of morin on the expression levels of proteins related to the Akt/mTOR/STAT3 pathway was verified by Western blot. Compared with the control group, the morin groups showed decreased viability of SK-HEP-1 cells in a time-and concentration-dependent manner, increased number of apoptotic cells, up-regulated expression level of apoptosis marker PARP, up-regulated phosphorylation level of apoptosis-regulating protein H2AX, decreased number of positive cells and the colony formation rate, an upward trend of expression levels of autophagy-related proteins LC3-Ⅱ, Atg5, and Atg7, and decreased phosphorylation levels of Akt, mTOR, and STAT3. These results suggest that morin can promote apoptosis, inhibit proliferation, and induce autophagy in hepatocellular carcinoma cells, and its mechanism of action may be related to the Akt/mTOR/STAT3 pathway.

A new norsesquiterpenoid from Arctium lappa leaves / 中国中药杂志

Chemical constituents were isolated and purified from ethyl acetate fraction of Arctium lappa leaves by silica gel, ODS, MCI, and Sephadex LH-20 column chromatography. Their structures were identified with multiple spectroscopical methods including NMR, MS, IR, UV, and X-ray diffraction combined with literature data. Twenty compounds(1-20) were identified and their structures were determined as arctanol(1), citroside A(2), melitensin 15-O-β-D-glucoside(3), 11β,13-dihydroonopordopicrin(4), 11β,13-dihydrosalonitenolide(5), 8α-hydroxy-β-eudesmol(6), syringin(7), dihydrosyringin(8), 3,4,3',4'-tetrahydroxy-δ-truxinate(9),(+)-pinoresinol(10), phillygenin(11), syringaresinol(12), kaeperferol(13), quercetin(14), luteolin(15), hyperin(16), 4,5-O-dicaffeoylquinic acid(17), 1H-indole-3-carboxaldehyde(18), benzyl-β-D-glucopyranoside(19), and N-(2'-phenylethyl) isobutyramide(20). Among them, compound 1 is a new norsesquiterpenoid, and compounds 2-5, 7-8, and 18-20 are isolated from this plant for the first time.

Inhibitory effect and molecular mechanism of sinomenine on human hepatocellular carcinoma HepG2 and SK-HEP-1 cells / 中国中药杂志

This study aimed to investigate the effect and molecular mechanism of sinomenine on proliferation, apoptosis, metastasis, and combination with inhibitors in human hepatocellular carcinoma HepG2 cells and SK-HEP-1 cells. The effect of sinomenine on the growth ability of HepG2 and SK-HEP-1 cells were investigated by CCK-8 assay, colony formation assay, and BeyoClick~(TM) EdU-488 staining. The effect of sinomenine on DNA damage was detected by immunofluorescence assay, and the effect of sinomenine on apoptosis of human hepatocellular carcinoma cells was clarified by Hoechst 33258 staining and CellEvent~(TM) Cystein-3/7Green ReadyProbes~(TM) reagent assay. Cell invasion assay and 3D tumor cell spheroid invasion assay were performed to investigate the effect of sinomenine on the invasion ability of human hepatocellular carcinoma cells in vitro. The effect of sinomenine on the regulation of protein expression related to the protein kinase B(Akt)/mammalian target of rapamycin(mTOR)/signal transducer and activator of transcription 3(STAT3) signaling pathway in HepG2 and SK-HEP-1 cells was examined by Western blot. Molecular docking was used to evaluate the strength of affinity of sinomenine to the target cysteinyl aspartate specific proteinase-3(caspase-3) and STAT3, and combined with CCK-8 assay to detect the changes in cell viability after combination with STAT3 inhibitor JSI-124 in combination with CCK-8 assay. The results showed that sinomenine could significantly reduce the cell viability of human hepatocellular carcinoma cells in a concentration-and time-dependent manner, significantly inhibit the clonogenic ability of human hepatocellular carcinoma cells, and weaken the invasive ability of human hepatocellular carcinoma cells in vitro. In addition, sinomenine could up-regulate the cleaved level of poly ADP-ribose polymerase(PARP), a marker of apoptosis, and down-regulate the protein levels of p-Akt, p-mTOR, and p-STAT3 in human hepatocellular carcinoma cells. Molecular docking results showed that sinomenine had good affinity with the targets caspase-3 and STAT3, and the sensitivity of sinomenine to hepatocellular carcinoma cells was diminished after STAT3 was inhibited. Therefore, sinomenine can inhibit the proliferation and invasion of human hepatocellular carcinoma cells and induce apoptosis, and the mechanism may be attributed to the activation of caspase-3 signaling and inhibition of the Akt/mTOR/STAT3 pathway. This study can provide a new reference for the in-depth research and clinical application of sinomenine and is of great significance to further promote the scientific development and utilization of sinomenine.

Clinical efficacy of pancreaticoduodenectomy for periampullary diseases: a report of 2 019 cases / 中华消化外科杂志

Objective:To investigate the clinical efficacy of pancreaticoduodenectomy (PD) for periampullary diseases.Methods:The retrospective cohort study was conducted. The clinico-pathological data of 2 019 patients with periampullary diseases who underwent PD in the First Affiliated Hospital of Nanjing Medical University from January 2016 to December 2020 were collected. There were 1 193 males and 826 females, aged 63(15) years. Observation indicators: (1) surgical situations; (2) postoperative conditions; (3) postoperative pathological examinations; (4) prognosis of patients with periampullary carcinoma. Regular follow-up was conducted by telephone interview and outpatient examination once every 3 months within the postoperative first year and once every 6 months thereafter to detect the survival of patients with periampullary carcinoma. The follow-up was up to December 2021. Measurement data with skewed distribution were represented as M(IQR) or M(range), and comparison between groups was analyzed using the rank sum test. Count data were described as absolute numbers and (or) percentages, and comparison between groups was analyzed by the chi-square test or Fisher exact probability. Kaplan-Meier method was used to draw survival curves and calculate survival rates, and Log-Rank test was used to conduct survival analysis. Results:(1) Surgical situations: of 2 019 patients, 1 116 cases were admitted from 2016-2018 and 903 cases were admitted from 2019-2020. There were 1 866 cases undergoing open PD and 153 cases undergoing laparoscopic or robot-assisted PD. There were 1 049 cases under-going standard PD and 970 cases undergoing pylorus-preserved PD. There were 215 cases combined with portal mesenteric vein resection, 3 cases combined with arterial resection. The operation time of 2 019 patients was 255(104)minutes and the volume of intraoperative blood loss was 250(200)mL. The intraoperative blood transfusion rate was 31.401%(623/1 984), with the blood transfusion data of 35 cases missing. The proportions of pylorus-preservation, combination with portal mesenteric vein resection, intraoperative blood transfusion were 585 cases(52.419%), 97cases(8.692%), 384 cases(34.941%) for patients admitted in 2016-2018, versus 385 cases(42.636%), 118 cases(13.068%), 239 cases(27.006%) for patients admitted in 2019-2020, showing significant differences between them ( χ2=19.14,10.05,14.33, P<0.05). (2) Postoperative conditions: the duration of postoperative hospital stay of 2 019 patients was 13 (10) days. One of 2 019 patients lacked the data of postopera-tive complications. The overall postoperative complication rate was 45.292%(914/2 018), of which the incidence rate of grade B or C pancreatic fistula was 23.439%(473/2 018), the rate of grade B or C hemorrhage was 8.127%(164/2 018), the rate of grade B or C delayed gastric emptying was 15.312%(309/2 018), the rate of biliary fistula was 2.428%(49/2 018) and the rate of abdominal infection was 12.884%(260/2 018). The reoperation rate of 2 019 patients was 1.932%(39/2 019), the in-hospital mortality was 0.644%(13/2 019), the postoperative 30-day mortality was 1.238%(25/2 019), and the postoperative 90-day mortality was 2.675%(54/2 019). There were 541 cases(48.477%) with overall postoperative complications, 109 cases(9.767%) with grade B or C hemorr-hage, 208 cases(18.638%) with grade B or C delayed gastric emptying , 172 cases(15.412%) with abdominal infection, 39 cases(3.495%) with postoperative 90-day mortality of 1 116 patients admitted in 2016-2018. The above indicators were 373 cases(41.353%), 55 cases(6.098%), 101 cases(11.197%), 88 cases(9.756%), 15 cases(1.661%) of 902 patients admitted in 2019-2020, respectively. There were significant differences in the above indicators between them( χ2=10.22, 9.00, 21.30, 14.22, 6.45 , P<0.05). The in-hospital mortality occurred to 11 patients(0.986%) of 1 116 patients admitted in 2016-2018 and to 2 cases(0.221%) of 903 patients admitted in 2019-2020, showing a significant difference between them ( P<0.05). (3) Postoperative pathological examinations. Disease area of 2 019 patients reported in postoperative pathological examinations: there were 1 346 cases(66.667%) with lesions in pancreas, including 1 023 cases of carcinoma (76.003%) and 323 cases(23.997%) of benign diseases or low potential malignancy. There were 250 cases(12.382%) with lesions in duodenal papilla, including 225 cases of carcinoma (90.000%) and 25 cases(10.000%) of benign diseases or low potential malignancy. There were 174 cases(8.618%) with lesions in bile duct, including 156 cases of carcinoma (89.655%) and 18 cases(10.345%) of benign diseases or low potential malignancy. There were 140 cases(6.934%) with lesions in ampulla, including 134 cases of carcinoma (95.714%) and 6 cases(4.286%) of benign diseases or low potential malignancy. There were 91 cases(4.507%) with lesions in duodenum, including 52 cases of carcinoma (57.143%) and 39 cases(42.857%) of benign diseases or low potential malignancy. There were 18 cases(0.892%) with carcinoma in other sites. Postoperative pathological examination showed carcinoma in 1 608 cases(79.643%), benign diseases or low potential malignancy in 411 cases(20.357%). The histological types of 1 608 patients with carcinoma included adenocarcinoma in 1 447 cases (89.988%), intra-ductal papillary mucinous carcinoma in 37 cases(2.301%), adenosquamous carcinoma in 35 cases(2.177%), adenocarcinoma with other cancerous components in 29 cases(1.803%), neuroendocrine carcinoma in 18 cases(1.119%), squamous carcinoma in 1 case (0.062%), and other histological malignancies in 41 cases(2.550%). The histological types of 411 patients with benign or low poten-tial malignancy included intraductal papillary mucinous neoplasm in 107 cases (26.034%), chronic or autoimmune inflammatory disease in 62 cases(15.085%), neuroendocrine tumor in 58 cases(14.112%), pancreatic serous cystadenoma in 52 cases(12.652%), pancreatic solid pseudopapillary tumor in 36 cases(8.759%), gastrointestinal stromal tumor in 29 cases(7.056%), villous ductal adenoma in 20 cases(4.866%), pancreatic mucinous cystadenoma in 2 cases(0.487%), pancreatic or duodenal trauma in 2 cases(0.487%) and other histological types in 43 cases(10.462%). (4) Prognosis of patients with periampullary carcinoma. Results of survival analysis of 1 590 patients with main locations of periampullary carcinoma showed that of 1 023 patients with pancreatic cancer, 969 cases were followed up for 3.0-69.6 months, with a median follow-up time of 30.9 months. The median overall survival time, 1-year, 3-year and 5-year survival rates of pancreatic cancer patients were 19.5 months [95% confidence interval ( CI) as 18.0-21.2 months], 74.28%, 29.22% and 17.92%. Of 225 patients with duodenal papillary cancer, 185 cases were followed up for 3.0-68.9 months, with a median follow-up time of 36.7 months. The median overall survival time, 1-year, 3-year and 5-year survival rates were unreached, 94.92%, 78.87% and 66.94%. Of 156 patients with distal bile duct cancer, 110 cases were followed up for 3.0-69.5 months, with a median follow-up time of 25.9 months. The median overall survival time, 1-year, 3-year and 5-year survival rates were 50.6 months (95% CI as 31.4 to not reached), 90.37%, 56.11% and 48.84%. Of 134 patients with ampullary cancer, 100 cases were followed up for 3.0-67.8 months, with a median follow-up time of 28.1 months. The median overall survival time, 1-year, 3-year and 5-year survival rates were 62.4 months (95% CI as 37.8 months to not reached), 90.57%, 64.98% and 62.22%. Of 52 patients with duodenal cancer, 38 cases were followed up for 3.0-69.5 months, with a median follow-up time of 26.2 months. The median overall survival time, 1-year, 3-year and 5-year survival rates were 52.0 months (95% CI as 30.6 months to not reached), 93.75%, 62.24% and 40.01%.There was a significant difference in overall survival after PD between patients with different locations of periampullary malignancies ( χ2=163.76, P<0.05). Conclusions:PD is safe and feasible in a high-volume pancreas center, but the incidence of overall postoperative complications remains high. With the increase of PD volume, the incidence of overall postoperative complications has significantly decreased. There is a significant difference in overall survival time after PD among patients with different locations of periampullary malignancies. The 5-year survival rate after PD for duodenal papillary cancer, ampullary cancer, duodenal cancer and distal bile duct cancer is relatively high, whereas for pancreatic cancer is low.

Analysis on Chemical Constituents and Dynamic Accumulation of Main Components in Arctium lappa Leaves / 中国实验方剂学杂志

ObjectiveTo determine the chemical constituents of burdock （Arctium lappa） leaves， and elucidate dynamic accumulation rule of four main components， in order to provide the basis for determining the suitable harvest time of burdock leaves. MethodSilica gel， macroporous resin， Sephadex LH-20， octadecylsilane chemically bonded silica （ODS）， microporous resin （MCI） column chromatography and reversed-phase preparative high performance liquid chromatography （HPLC） were used to isolate the main chemical constituents in burdock leaves. Their chemical structures were elucidated by spectroscopic techniques. HPLC-diode array detector （DAD） was used to analyze the dynamic accumulation of four components in burdock leaf. HPLC-DAD was performed on a Shim-pack GIST C18 column （4.6 mm×250 mm， 5 μm） with mobile phase of acetonitrile （A）-0.3% phosphoric acid aqueous solution （B） （0-9 min， 13%A； 9-10 min， 13%-24%A； 10-30 min， 24%A）， flow rate of 1.0 mL·min-1， column temperature of 40 ℃， and detection wavelength at 328 nm. ResultSeventeen compounds were isolated from burdock leaves， and identified as caffeic acid （1）， rutin （2）， kaempferol-3-O-rutinoside （3）， quercetin-3-O-β-D-glucopyranoside （4）， kaempferol-3-O-β-D-glucopyranoside （5）， chlorogenic acid （6）， isochlorogenic acid A （7）， daucosterol （8）， ursolic acid （9）， anemarrhenoside B （10）， （-）-secoisolariciresinol （11）， vladinol D （12）， melitensin （13）， esculetin （14）， 1-（-2-ethylphenyl）-1，2-ethanediol （15）， 1-（-4-ethylphenyl）-1，2-ethanediol （16）， 3-hydroxy-1-（4-hydroxy-3，5-dimethoxyphenyl）-1-propanone （17）. The contents of chlorogenic acid， rutin and kaempferol-3-O-rutinoside in burdock leaves showed an upward trend from April to August， and reached the highest in August. And the content of isochlorogenic acid A firstly increased and then decreased from April to August， and reached the highest in July. ConclusionCompounds 10， 12-17 were isolated from Arctium for the first time. Taking the contents of chlorogenic acid， rutin， kaempferol-3-O-rutinoside， and isochlorogenic acid A as indicators， considering the comprehensive development and utilization of burdock roots and leaves， it is recommended to harvest burdock leaves in mid-August.

Clinical features and treatment of comorbid bipolar disorder and obsessive-compulsive disorder / 四川精神卫生

The aim of this paper is to provide a review of the clinical features and treatment of comorbid bipolar disorder and obsessive-compulsive disorder， and to provide evidence for early identification and appropriate intervention. The clinical phenomenon of comorbid bipolar disorder and obsessive-compulsive disorder is hardly unusual， while the treatment strategies of the two kinds of diseases are different or even mutually exclusive， thus leading to the treatment dilemma. Based on this， the paper will discuss the research progress on the epidemiology， clinical features and treatment of comorbid bipolar disorder and obsessive-compulsive disorder.

Phenotypic and genetic analysis of a boy with inv dup del(8p) / 中华医学遗传学杂志

OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.

Clinical and molecular genetic analysis of a case of MEGDEL syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with MEGDEL syndrome.@*METHODS@#Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative PCR.@*RESULTS@#The patient, a 2-year-and-6-month-old male, has featured hypoglycemia, mental and motor retardation with regression. Cranial MRI showed bilateral putamen damage suggestive of Leigh syndrome. Testing of urine organic acid indicated that the level of 3-methylpentenoic acid was slightly increased. Whole exome sequencing revealed that the child has harbored heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant of the SERAC1 gene, which were respectively inherited from his parents who were asymptomatic. Treatment with Levocarnitine, vitamin B1, vitamin B2, coenzyme Q10, baclofen and glucuronolactone resulted in improvement of sleep and mental state.@*CONCLUSION@#A case of MEGDEL syndrome without deafness was diagnosed. Discovery of the nonsense mutation and large fragment deletion have enriched the spectrum of SERAC1 gene variants.

Preparation of Magnetic Solid Lipid Nanoparticles Co-loaded Quercetin and Resveratrol and Evaluation of Its Antitumor Effect / 中国实验方剂学杂志

Objective:To prepare magnetic solid lipid nanoparticles co-loaded quercetin and resveratrol(QR-MSLN),develop the reasonable characterization method,and investigate its inhibitory effect on transplanted hepatocarcinoma H22 tumor in mice. Method:Magnetic Fe3O4 particles coated with oleic acid(OA-Fe3O4) were synthesized and its structure was confirmed by Fourier transform infrared spectrometer(FT-IR).QR-MSLN was prepared by emulsion ultrasonic dispersion method,its morphology was examined by transmission electron microscopy,its particle size was determined by laser particle sizer.Concentration of Fe in the preparation was determined by phenanthroline spectrophotometry.The entrapment efficiency,saturation magnetization,in vitro release behavior were investigated by ultrafiltration centrifugation,vibrating sample magnetometer(VSM) and dialysis method,respectively.Mouse tumor model transplanted with hepatoma H22 ascites tumor was established and antitumor effect of QR-MSLN on H22 bearing mice were observed in the presence of an applied magnetic field. Result:Morphology of QR-MSLN was round,and black magnetic particles could be observed inside it,its particle size was (171.9±2.2) nm,the concentration of Fe was (1.40±0.46) g·L-1.The preparation exhibited apparent superparamagnetism and the saturation magnetization was 7.75 A·m2·kg-1.The entrapment efficiencies of quercetin and resveratrol in QR-MSLN were 99.10% and 80.83%,respectively.QR-MSLN had a significantly higher effect of tumor inhibition than SLN(containing quercetin and resveratrol) and free drug(PConclusion:QR-MSLN has uniform particle size and good magnetic response,and shows remarkable antitumor effect on H22 bearing mice.

Ethambutol optic neuropathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#Ethambutol(EMB)has been used as first-line antibiotics to treat tuberculosis. Side effects of ethambutol have been well documented since its original use, with the most serious one being optic neuropathy. EMB-induced optic neuropathy(EON)may be reversible in the early stages, but delayed diagnosis has been shown to result in permanent visual loss. Thus the reversibility of EON is dependent on early detection. In this review, we discuss risk factors, detection methods, treatment and prevention of EON.

Outcomes and prognostic factors of myelodysplastic syndrome patients with allogeneic hematopoietic stem cell transplantation / 中华血液学杂志

Objective: To evaluate the outcomes and prognostic factors of myelodysplasia syndrome (MDS) patients who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: 165 cases of MDS who underwent allo-HSCT from Jan. 2010 to Mar. 2018 were analyzed retrospectively, focusing on the overall survival (OS) , disease free survival (DFS) , relapse, non-relapse mortality (NRM) and their related risk factors. Results: Of all the 165 cases, 105 were male and 60 were female. The 3-year OS and DFS rate were 72.5% (95%CI 64.9%-80.1%) and 67.4% (95%CI 59.17%-75.63%) , respectively. The 3-year cumulative incidence of relapse and NRM were 12.11% (95%CI 7.03%-18.65%) and 20.44% (95%CI 14.15%-27.56%) , respectively. HCT-comorbidity index (P=0.042, HR=2.094, 95%CI 1.026-4.274) was identified as independent risk factor for OS by the multivariate analysis. Intensive chemotherapy before HSCT or hypomethylation agents treatment had no effects on OS[ (67.0±7.5) %vs (57.7±10.9) %, χ(2)=0.025, P=0.874]. Conclusions: allo-HSCT is a promising means for MDS, and NRM is the major cause of treatment failure. MDS with refractory anemia with excess blasts and secondary acute myeloid leukemia patients may not benefit from intensive chemotherapy or hypomethylation agents treatment before HSCT.

Clinical and genetic studies of two cases of fructose-1,6-bisphosphatase deficiency caused by FBP1 mutations / 中国实用儿科杂志

OBJECTIVE: To analyze the clinical and molecular genetic characteristics of 2 cases of fructose-1,6-bisphosphatase deficiency in the same family to provide evidence for the precise treatment,genetic counseling and prenatal diagnosis.METHODS: Clinical data were collected from 2 patients with hypoglycemia encephalopathy,and molecular genetic analysis was performed using targeted capture next-generation sequencing. RESULTS: The 2 patients were siblings,the male proband was 7 years old,mainly manifested with convulsions after hunger or ingestion of a large amount of fructose,accompanied by ketoacidosis;clinical diagnosis was hypoglycemia encephalopathy,and fructose metabolism abnormalities was suspected. The younger brother was 4 years old,mainly showing hunger and sweating in the morning,stomach ache after eating fruit,and convulsion episode once after hunger. Next-generation sequencing results showed that the siblings had c.333+1＿2 delinsTC and c.490 G>A compound heterozygous mutations in the FBP1 gene,and their parents were carriers with normal phenotype.The c.333+1＿2 delins TCis a novel mutation,c.490 G>A is a reported pathogenic mutation,and the two patients were diagnosed with fructose-1,6-bisphosphatase deficiency genetically. CONCLUSION: For children with unexplained hypoglycemia,convulsions and metabolic acidosis,the fructose-1,6-bisphosphatase deficiency should be considered. Early genetic analysis is helpful to clarify the cause,make precise treatment and improve prognosis.

A case of SBBYSS syndrome caused by KAT6B gene variant / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Kleefstra syndrome 1 and ring chromosome 9 in a case / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.@*METHODS@#Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.@*RESULTS@#The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.@*CONCLUSION@#The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.

Analysis of influencing factors of the effect of the morphology of unruptured intracranial aneurysms on aneurysm wall enhancement of vascular wall with high-resolution magnetic resonance imaging / 中国脑血管病杂志

Objective To investigate the influencing factor of the morphology of unruptured intracranial aneurysms for aneurysm wall enhancement under the high-resolution magnetic resonance imaging. Methods From January 2015 to December 2016,the clinical and imaging data of 68 consecutive patients with unruptured intracranial aneurysm (86 aneurysms) in Changhai Hospital,the Second Military Medical University were enrolled retrospectively. Vascular wall imaging technology was used to conduct aneurysm scan,and the aneurysm wall enhancement was identified by the imaging features before and after contrast enhancement. They were divided into either an enhancement group ( n=32,34 aneurysms) or a non-enhancement group (n=45,52 aneurysms) according to whether having the abnormal enhancement of aneurysm wall or not ( because some patients also have enhanced aneurysms and non-enhanced aneurysms, the number of cases of the enhanced or not was calculated seperately in both groups ) . Morphological parameters were calculated by 3D image data,including aneurysm size,ratio of height to width,volume ratio, dome-to-neck ratio, transverse length ratio, bottleneck factor, and inflow angle. Univariate and multivariate logistic analyses were used to determine the morphological influence factors of aneurysm wall enhancement. Results (1) A total of 34 (39. 5%) aneurysms had aneurysm wall enhancement and 52 (60. 5％) aneurysms did not have aneurysm wall enhancement. There were no significant differences in sex, age, hypertension,diabetes, smoking, family history of subarachnoid hemorrhage, and aneurysm site in both groups (all P>0. 05). (2) The aneurysm size,ratio of height to width,volume ratio,dome-to-neck ratio, and bottleneck factor in the enhancement group were larger than those of the non-enhancement group. There were significant differences between the 2 groups (9. 19 [6. 54,11. 04] mm vs. 5. 31 [4. 17,7. 37] mm, (1. 18 [1. 01,1. 69] vs. 0. 91 [0. 72,1. 25],(3. 62 [2. 30,4. 63] vs. 2. 18 [1. 37,2. 76],1. 52 [1. 25, 1. 99] vs. 1. 19 [1. 03,1. 51],and 1. 21 [1. 11,1. 69] vs. 1. 05 [0. 94,1. 31],all P<0. 01). The proportion of irregular morphologic aneurysms in the enhancement group was higher than that in the non-enhancement group. There was significant difference between the 2 groups (55. 9％ [19/34] vs. 17. 3％ [9/52],P<0. 01 ) . There were no significant differences in transverse length ratio and inflow angle between the 2 groups (all P>0. 05). (3) Because the ratio of height to width,volume ratio,dome-to-neck ratio,and bottleneck factor were related to the aneurysm size,the aneurysm size,inflow angle,and irregular shape were included in the multivariate logistic regression analysis. The results showed that aneurysm size ( OR,3. 727,95％CI 1. 933-6. 971,P<0. 01) and irregular shape (OR,3. 990,95％CI 1. 219-13. 065,P=0. 022) were the independent risk factors for aneurysm wall enhancement. Conclusions The size and irregular shape of unruptured intracranial aneurysms are the independent risk factors for aneurysm wall enhancement. High-resolution magnetic resonance wall imaging may become an effective and noninvasive imaging method for evaluating the ruptured risk of intracranial aneurysms.

Establishment and validation of a scoring model for predicting the recurrence risk after endovascular embolization of intracranial aneurysms / 中国脑血管病杂志

Objective To establish a comprehensive,simple,and effective scoring model for predicting the recurrence risk after endovascular embolization of intracranial aneurysms in order to assess the possibility of recurrence and to provide guidance for the selection of surgical protocols and postoperative management.Methods From May 2012 to May 2014,434 patients (441 aneurysms) with intracranial aneurysm treated with endovascular embolization at the Department of Neurosurgery,Changhai Hospital,the Second Military Medical University were enrolled retrospectively,and they were used as a modeling group.After modeling,109 patients (109 aneurysms) were used as a validation group.In the modeling cohort,a predictive scoring model of recurrence risk was established according to the results of multivariate logistic regression analysis;the model was validated in the validation cohort.According to the scoring model of the modeling group,the scoring table of best cut-off value of the receiver operating characteristic (ROC) curves was divided into a low-risk and a high-risk of recurrence.The recurrence risk score model was compared with the North America aneurysm recanalization stratification scale (ARSS) model,and Raymond grade.Results Multivariate logistic regression analysis showed that the 3 factors included in the scores and finally,a established scoring model of recurrence risk prediction were non-stent assisted embolization (1 point),Raymond grade ≥Ⅱ (1 point),and the size of aneurysm (aneurysm >25 mm[3 points)],aneurysm 10-25 mm[1 point],and aneurysm <10 mm[0 point]).The validation indicated that the scoring system had higher predictive value (AUC=0.738,95%CI 0.641-0.834,P<0.05) and goodness of fit (Hosmer-Lemeshow χ2=2.109,P=0.146).The scoring table was further divided into the low-risk recurrence (0-1 point) and high-risk recurrence (2-5 points),its sensitivity was 72.73% (48/66) and specificity was 68.80% (258/375).The predictive ability of the aneurysm recurrence risk score model was similar to that of the ARSS score (χ2=0.54,P=0.462),and it was better than the Raymond grade (χ2=15.10,P<0.01).Conclusion The established simple aneurysm recurrence risk predicting score model in this study may accurately predict the recurrence of aneurysms,however,a multicenter,large sample prospective study is needed for further validation.

Impact of patient controlled epidural analgesia on postoperative recovery in patients undergoing laparotomy pancreatic surgeries / 临床麻醉学杂志

Objective To compare the impact of patient controlled epidural analgesia with patient controlled intravenous analgesia on postoperative recovery and complications in patients undergoing laparotomy pancreatic surgeries.Methods Forty patients undergoing pancreatic surgeries, 27 males and 13 females, aged 18-70 years, ASA physical status Ⅰ or Ⅱ, were randomly divided into two groups (n=20 each).Patients in group E received T8-9 or T9-10 epidural block, 2% lidocaine test dose was given to ensure the location of epidural catheter, after that, each patient in group E was given 0.375% ropivacaine 5 ml into epidural space before skin incising and incision closures.Meanwhile, patients in groups E and V received propofol-sevoflurane combined intravenous inhalation anesthesia.After surgery, patients in group E received patient controlled epidural analgesia while patients in group V received patient controlled vein analgesia.Length of hospital stay, time to ambulation and exhaust defecation were recorded.Other complications were compared.Results Compared to group V, patients in group E showed earlier ambulation [(50.4±4.2) h vs (64.2±5.0) h, P<0.01], shorter hospital stays [(18.5±8.5) d vs (21.5±6.8) d, P<0.05].There was no statistically significant difference in flatus time between the two groups [(39.7±4.1) h vs (39.5±8.4) h].There was no significant difference in complications between the two groups.Conclusion The present study shows that for patients undergoing pancreatic surgeries, patient controlled epidural analgesia could effectively release post-operative pain, shorten the ambulation time and length of hospital stay with no extra complications.

Endovascular treatment of distal middle cerebral artery aneurysms:a single center experience / 中国脑血管病杂志

Objective To investigate the safety and efficacy of endovascular treatment of distal middle cerebral artery aneurysms. Methods From January 2009 to December 2016,the medical records of 13 consecutive patients with distal middle cerebral artery aneurysm (a total of 14 aneurysms)were reviewed and enrolled. Endovascular treatment included coils,coils with liquid embolic materials,or using liquid embolic material alone for embolization of aneurysms or occlusion of parent arteries. The immediate outcome of aneurysm treatment was evaluated by Raymond classification,and the clinical prognosis was evaluated by the modified Rankin scale (mRS). DSA was use to conduct imaging follow-up study and was compared with the immediate treatment outcome in order to determine whether the aneurysms recurred or not. Results Of the 13 patients,8 were males,with an average age of 40 ±14 years. The maximum diameter of aneurysm was 1. 0 -12. 0 mm,the median size was 4. 5 mm. Fourteen aneurysms were successfully treated by endovascular treatment,4 of them were embolized,and the parent aneurysms were retained;10 aneurysms and parent arteries were occluded. Twelve aneurysms did not develop immediately after operation,and 2 of them had residual aneurysms. No new nerve dysfunction and related complications were found after endovascular treatment. The clinical follow-up period was 9 -96 months,and the median time was 30. 9 months. Twelve aneurysms were followed up for 6 -24 months with a median time of 15. 2 months. No recurrence of aneurysms were observed. Conclusions Using endovascular treatment technology for the treatment of distal middle cerebral artery aneurysms is safe and effective. It can be considered in the development of treatment programs.

Application value of Smart Mask technology in endovascular embolization of intracranial aneurysms / 中国脑血管病杂志

Objective To evaluate the application value of Smart Mask technology guiding micro-catheter in place for intracranial aneurysm embolization in endovascular interventional treatment. Methods The DSA data of 61 consecutive patients with unruptured intracranial aneurysm in the Department Neurosurgery,Changhai Hospital,the Second Military Medical University from August 5 to December 20,2016 were collected retrospectively. The conditions of the guildewire catheter reaching the aneurysms and the coil embolization in the Smart Mask technology group (n = 31)and conventional road map group (n = 30)were compared. The observation indexes included the differences in contrast agent dosage,exposure time,and operation time. Results The contrast agent dosage of the Smart Mask technology group and road map technology group were 192 ± 37 and 215 ± 40 ml respectively,the X-ray illumination quantity were 5913 ±1682 and 6975 ±2036 mGy respectively,and the operation time were 2. 62 ± 0. 29 h and 2. 94 ± 0. 35 h respectively. The differences were statistically significant (all P < 0. 05 ). Conclusion Using Smart Mask technology to assist endovascular embolization of intracranial aneurysms can effectively shorten the operation time,reduce the amount of X-ray radiation and contrast agent,and reduce the risk of operation.