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Esophageal cancer is a common malignant tumor in China. For resectable ones, surgery is still the primary treatment. At present, the extent of lymph node dissection remains controversial. Extended lymphadenectomy makes metastatic lymph nodes more likely to be resected, which contributed to pathological staging and postoperative treatment. However,it may also increase the risk of postoperative complications and affect prognosis. Therefore, it is controversial how to balance the optimal extent/number of dissected lymph nodes for radical resection with the lower risk of severe complications. In addition, whether the lymph node dissection strategy should be modified after neoadjuvant therapy needs to be investigated, especially for patients who have a complete response to neoadjuvant therapy. Herein, we summarize the clinical experience on the extent of lymph node dissection in China and worldwide, aiming to provide guidence for the extent of lymph node dissection in esophageal cancer.
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Humans , Lymphatic Metastasis/pathology , Lymph Node Excision , Lymph Nodes/pathology , Prognosis , Esophageal Neoplasms/pathology , Neoplasm Staging , EsophagectomyABSTRACT
OBJECTIVES@#To study new biomarkers for the early diagnosis of retinopathy of prematurity (ROP) by analyzing the differences in blood metabolites based on liquid chromatography-tandem mass spectrometry (LC-MS/MS) and metabolomics.@*METHODS@#Dried blood spots were collected from 21 infants with ROP (ROP group) and 21 infants without ROP (non-ROP group) who were hospitalized in the Sixth Affiliated Hospital of Sun Yat-sen University from January 2013 to December 2016. LC-MS/MS was used to measure the metabolites, and orthogonal partial least squares-discriminant analysis was used to search for differentially expressed metabolites and biomarkers.@*RESULTS@#There was a significant difference in blood metabolic profiles between the ROP and non-ROP groups. The pattern recognition analysis, Score-plot, and weight analysis obtained 10 amino acids with a relatively large difference. Further statistical analysis showed that the ROP group had significant increases in blood levels of glutamic acid, leucine, aspartic acid, ornithine, and glycine compared with the non-ROP group (P<0.05). The receiver operating characteristic curve analysis showed that glutamic acid and ornithine had the highest value in diagnosing ROP.@*CONCLUSIONS@#Blood metabolites in preterm infants with ROP are different from those without ROP. Glutamic acid and ornithine are the metabolic markers for diagnosing ROP. LC-MS/MS combined with metabolomics analysis has a potential application value in the early identification and diagnosis of ROP.
Subject(s)
Infant, Newborn , Infant , Humans , Tandem Mass Spectrometry , Infant, Premature , Chromatography, Liquid , Retinopathy of Prematurity/diagnosis , Glutamic Acid , OrnithineABSTRACT
Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.
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Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.
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Esophageal cancer is a common malignant tumor of the digestive system in China. Currently, surgical resection is the main treatment for localized and resectable esophageal cancer. Minimally invasive treatment of esophageal cancer has the advantages of small trauma, neat incision, less pain, quick postoperative recovery, low postoperative complication incidence and mortality, and the treatment effect is comparable to traditional open surgery. Therefore, minimally invasive surgery for esophageal cancer has gradually become the mainstream choice for esophageal surgery. Various minimally invasive treatment approaches for esophageal cancer have correspon-dingly different indications, advantages and disadvantages. With the continuous development of minimally invasive technology, the shortcomings of various minimally invasive surgical approaches have been continuously overcome, which has brought about the diversification of minimally invasive treatment options. The authors comb the latest research progress at home and abroad, discuss and summarize the current application of minimally invasive techniques in esophageal surgery, hoping to provide references for the clinical minimally invasive treatment of esophageal cancer.
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Objective:To observe the efficacy and safety of anlotinib combined with chemotherapy in patients with advanced non-small cell lung cancer (NSCLC) who failed second-line chemotherapy.Methods:A retrospective analysis was performed on 80 patients with advanced NSCLC who had failed second-line chemotherapy admitted in the Department of Oncology of Chaohu Hospital of Anhui Medical University from January 2017 to October 2019, and the patients were divided into control group ( n=36) and observation group ( n=44) according to the different treatment regimens. The control group was given pemetrexed + cisplatin, and the observation group adopted pemetrexed + cisplatin + anlotinib. The objective response rate (ORR), disease control rate (DCR), median progression-free survival (PFS), overall survival (OS), changes in levels of serum vascular endothelial growth factor (VEGF), carcinoembryonic antigen (CEA) and carbohydrate antigen 199 (CA199) and treatment-related adverse reactions were compared between the two groups. Results:After 2 cycles of treatment, the ORR in the control group and observation group were 5.56% (2/36) and 18.18% (8/44), with no statistically significant difference ( χ2=1.85, P=0.174). The DCR in the two groups were 58.33% (21/36) and 81.82% (36/44), and the DCR in the observation group was significantly higher than that in the control group, with a statistically significant difference ( χ2=5.33, P=0.021). The median PFS in the two groups were 4.0 months and 6.0 months, and the median PFS in the observation group was longer than that in the control group, with a statistically significant difference ( χ2=28.47, P<0.001). The median OS in the two groups were 13.0 months and 14.8 months, with no statistically significant difference ( χ2=1.56, P=0.212). The levels of serum VEGF [(21.72±5.42) ng/L vs. (36.97±7.53) ng/L, t=14.13, P<0.001; (16.61±4.14) ng/L vs. (38.85±8.61) ng/L, t=23.09, P<0.001], CEA [(4.91±1.58) ng/ml vs. (6.62±2.84) ng/ml, t=4.64, P<0.001; (3.07±1.32) ng/ml vs. (7.08±3.31) ng/ml, t=11.50, P<0.001] and CA199 [(16.83±5.23) U/ml vs. (20.95±7.94) U/ml, t=3.75, P<0.001; (13.37±5.85) U/ml vs. (21.66±8.72) U/ml, t=7.55, P<0.001] in the control group and observation group after 2 cycles of treatment were significantly decreased compared with those before treatment, and the levels of serum VEGF, CEA and CA199 in the observation group were significantly lower than those in the control group ( t=4.78, P<0.001; t=5.68, P<0.001; t=2.76, P=0.007). The incidence of elevated blood pressure in the observation group was significantly higher than that in the control group [25.00% (11/44) vs. 2.78% (1/36), χ2=7.67, P=0.006]. Conclusion:Pemetrexed + cisplatin + anlotinib regimen for patients with advanced NSCLC who failed second-line chemotherapy can improve DCR, prolong PFS and improve the levels of serum tumor-related markers, with controllable adverse reactions.
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This study explored the molecular mechanism underlying the Gegen Qinlian Decoction(GQD) promoting the differentiation of brown adipose tissue(BAT) to improve glucose and lipid metabolism disorders in diabetic rats. After the hypoglycemic effect of GQD on diabetic rats induced by high-fat diet combined with a low dose of streptozotocin was confirmed, the total RNA of rat BAT around scapula was extracted. Nuclear transcription genes Prdm16, Pparγc1α, Pparα, Pparγ and Sirt1, BAT marker genes Ucp1, Cidea and Dio2, energy expenditure gene Ampkα2 as well as BAT secretion factors Adpn, Fndc5, Angptl8, IL-6 and Rbp4 were detected by qPCR, then were analyzed by IPA software. Afterward, the total protein from rat BAT was extracted, and PRDM16, PGC1α, PPARγ, PPARα, SIRT1, ChREBP, AMPKα, UCP1, ADPN, NRG4, GLUT1 and GLUT4 were detected by Western blot. The mRNA expression levels of Pparγc1α, Pparα, Pparγ, Ucp1, Cidea, Ampkα2, Dio2, Fndc5, Rbp4 and Angptl8 were significantly increased(P<0.05) and those of Adpn and IL-6 were significantly decreased(P<0.05) in the GQD group compared with the diabetic group. In addition, Sirt1 showed a downward trend(P=0.104), whereas Prdm16 tended to be up-regulated(P=0.182) in the GQD group. IPA canonical pathway analysis and diseases-and-functions analysis suggested that GQD activated PPARα/RXRα and SIRT1 signaling pathways to promote the differentiation of BAT and reduce the excessive lipid accumulation. Moreover, the protein expression levels of PRDM16, PGC1α, PPARα, PPARγ, SIRT1, ChREBP, AMPKα, UCP1, GLUT1, GLUT4 and NRG4 were significantly decreased in the diabetic group(P<0.01), which were elevated after GQD intervention(P<0.05). Unexpectedly, the expression of ADPN protein in the diabetic group was up-regulated(P<0.01) as compared with the control group, which was down-regulated after the administration with GQD(P<0.01). This study indicated that GQD promoted BAT differentiation and maturity to increase energy consumption, which reduced the glucose and lipid metabolism disorders and thereby improved diabetes symptoms.
Subject(s)
Animals , Rats , Adipose Tissue, Brown , Diabetes Mellitus, Experimental/genetics , Drugs, Chinese Herbal , Fibronectins , Glucose , Lipid Metabolism , Lipid Metabolism DisordersABSTRACT
PURPOSE@#This research examined road traffic injury mortality and morbidity disparities across of country development status, and discussed the possibility of reducing country disparities by various actions to accelerate the pace of achieving Sustainable Development Goals target 3.6 - to halve the number of global deaths and injuries from road traffic accidents by 2020.@*METHODS@#Data for road traffic mortality, morbidity, and socio-demographic index (SDI) were extracted by country from the estimates of the Global Burden of Disease study, and the implementation of the three types of national actions (legislation, prioritized vehicle safety standards, and trauma-related post-crash care service) were extracted from the Global Status Report on Road Safety by World Health Organization. We fitted joinpoint regression analysis to identify and quantify the significant rate changes from 2011 to 2017.@*RESULTS@#Age-adjusted road traffic mortality decreased substantially for all the five SDI categories from 2011 to 2017 (by 7.52%-16.08%). Age-adjusted road traffic mortality decreased significantly as SDI increased in the study time period, while age-adjusted morbidity generally increased as SDI increased. Subgroup analysis by road user yielded similar results, but with two major differences during the study period of 2011 to 2017: (1) pedestrians in the high SDI countries experienced the lowest mortality (1.68-1.90 per 100,000 population) and morbidity (110.45-112.72 per 100,000 population for incidence and 487.48-491.24 per 100,000 population for prevalence), and (2) motor vehicle occupants in the high SDI countries had the lowest mortality (4.07-4.50 per 100,000 population) but the highest morbidity (428.74-467.78 per 100,000 population for incidence and 1025.70-1116.60 per 100,000 population for prevalence). Implementation of the three types of national actions remained nearly unchanged in all five SDI categories from 2011 to 2017 and was consistently stronger in the higher SDI countries than in the lower SDI countries. Lower income nations comprise the heaviest burden of global road traffic injuries and deaths.@*CONCLUSION@#Global road traffic deaths would decrease substantially if the large mortality disparities across country development status were reduced through full implementation of proven national actions including legislation and law enforcement, prioritized vehicle safety standards and trauma-related post-crash care services.
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Objective:To detect the genes of common genetic diseases in newborns with the high-throughput sequencing technology based on target gene capture, to study the incidence rate of such diseases, the carrying rate and variant types of pathogenic mutations related to such diseases, and to explore the application value of the high-throughput sequencing technology in screening genetic diseases of newborns.Methods:The heel blood of 1 793 newborns born in Guangdong province from June 2019 to April 2020 were collected, and the exon regions of 138 common genetic disease-related genes in neonates were detected using the high-throughput sequencing technology based on target gene capture.The pathogenicity of the mutations was interpreted according to the " Classification Criteria and Guidelines for Genetic Variation(2017)" , in which known disease and probable disease were considered as positive mutations.The positive mutations were verified by Sanger sequencing technology, and the test results were analyzed with statistical methods.Results:Among the 1 793 newborns, 978 were male and 815 were female.A total of 158 positive cases were screened(8.81%), and 11 positive diseases were detected.Among the positive diseases, there were 41 cases(2.29%)of autosomal recessive deafness type 1A, 40 cases(2.23%)of Gilbert syndrome or Crigler-Najjar syndrome, and 33 cases(1.84%)of glucose-6-phosphate dehydrogenase deficiency(1.84%), 19 cases(1.06%)of familial hypercho-lesterolemia, 18 cases(1.00%) of sodium taurocholate cotransporter peptide deficiency disease, 2 cases(0.11%)of mitochondrial non-syndromic deafness, 2 cases(0.11%)of Citrin deficiency, 1 case(0.06%)of holocarboxylase synthase deficiency, 1 case(0.06%)of β-thalassemia and 1 case(0.06%)of metachromatic leukodystrophies.Of all studied cases, 972 carried one or more positive mutations, involving 85 kinds of diseases in total.The diseases with a high carrying rate were Gilbert syndrome or Crigler-Najjar syndrome(359 cases, 20.02%), autosomal recessive deafness type 1A(302 cases, 16.84%), and sodium taurocholate cotransport peptide deficiency disease(291 cases, 16.22%). The high-frequency mutation sites were UGT1A1 gene c. 211G> A, GJB2 gene c .109G> A and SLC10A1 gene c. 800C> T. Conclusions:The common genetic diseases detected in neonates from Guangdong province are autosomal recessive deafness type 1A, Gilbert syndrome or Crigler-Najjar syndrome, glucose-6-phosphate dehydrogenase deficiency, familial hypercholesterolemia, and sodium taurocholate cotransport peptide deficiency.There are high-frequency carrying mutation sites in the population.Preliminary genetic screening of common neonatal genetic diseases can accumulate data and experience for the development of newborn genetic screening.
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Objective:To compare the difference of blood amino acids and acylcarnitine levels between small-for-gestational-age (SGA) and appropriate-for-gestational age (AGA) full-term newborns, and to explore the changes of the blood metabolism spectrum of full-term SGA, so as to provide evidence for clinical intervention.Methods:Seventy-nine full-term SGA newborns born in the Sixth Affiliated Hospital of Sun Yat-Sen University from January to December 2018 were selected as the study objects.Seventy-nine gestational age-and gender-matched healthy full-term AGA newborns born in the same hospital at the same time were selected as the control group.The dry blood spot samples were collected and detected by tandem mass spectrometry on the third day after birth.The differences between two groups and considerable biomarkers were explored by the orthogonal partial least squares discriminant analysis (OPLS-DA).Results:The birth weight of SGA newborns was (2.5±0.2) kg, and that of AGA newborns was (3.2±0.3) kg.OPLS-DA model analysis showed that 12 kinds of blood metabolites were identified which possessed the biggest weight discriminating the full-term SGA group from the AGA group, and the ratios of these blood metabolites of two groups were compared as follows: propionylcarnitine (0.34±0.13 vs. 0.42±0.15), tyrosine [0.24(0.18, 0.27) vs.0.28(0.22, 0.37)], free carnitine (0.43±0.14 vs. 0.37±0.12), valine [0.39(0.35, 0.45) vs.0.44(0.36, 0.53)], octanoylcarnitine (0.33±0.13 vs. 0.29±0.09), myristoylcarnitine (0.35±0.12 vs. 0.31±0.10), butylcartine (0.37±0.13 vs. 0.41±0.14), 3-hydroxyisovlerylcartine[0.35(0.25, 0.43) vs.0.35(0.26, 0.45)], decenoylcarnitine (0.26±0.13 vs. 0.23±0.08), isovalerylcarnitine[0.33(0.26, 0.34) vs.0.33(0.30, 0.35)], leucine [0.38(0.30, 0.47) vs.0.40(0.33, 0.48)]and methionine (0.42±0.14 vs. 0.46±0.15). The level of propionylcarnitine ( t=3.920), tyrosine ( Z=3.536) and valine ( Z=2.838) in the full-term SGA group were significantly lower than those in the AGA group, while the levels of free carnitine ( t=-2.863), octanoylcarnitine ( t=-2.266) and myristoylcarnitine ( t=-2.194) in the full-term SGA group were significantly higher than those in the AGA group (all P<0.05). Conclusions:The concentration of amino acids and acylcarnitine in the blood of SGA newborns is different from that in AGA newborns.Aromatic amino acids and branched chain amino acids should be added in full-term SGA nutrition support as they can meet the energy metabolism by mobilizing medium and long chain fatty acids in the early stage.
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Objective@#To report on clinical characteristics and genetic findings in 15 Chinese patients with methylmalonic acidemia (MMA).@*Methods@#For the 15 MMA patients detected by tandem mass spectrometry, genetic analysis was carried out in twelve pedigrees. Clinical characteristics, genetic finding, treatment and outcomes were retrospectively analyzed.@*Results@#The main features of the patients included poor feeding, recurrent vomiting, lethargy, seizure and development retardation. Blood propionylcarnitine (except for 3 patients), its ratio with acetylcarnitine, and urine methylmalonic acid were increased in all patients. Twelve patients were diagnosed genetically, which included 7 with MUT variants, 4 with MMACHC variants, and 1 with MMAB variant. Nine MUT variants were detected, among which c. 1159A>C, 753+ 1delGinsTGGTTATTA and c. 504del were novel. Six known pathogenic MMACHC variants and two novel MMAB variants (c.289_290delGG, c. 566G>A) were also detected. Seven patients died of metabolic crises within a year, others had improved effectively following the treatment, but had mild to severe growth delay and/or developmental retardation.@*Conclusion@#The clinical manifestation of MMA are complex. Most patients have variants of the MUT and MMACHC genes. High mortality may occur before one year of age.
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Objective To study the predictive value of umbilical cord blood regulatory T cells (Treg) for bronchopulmonary dysplasia (BPD) in preterm infants. Method From June 2017 to December 2018, premature infants with gestational age less than 32 weeks admitted to NICU of our hospiatal were prospectively selected. The umbilical cord blood was collected at birth to examine the Treg amount. The infants were assigned into BPD group and non-BPD group according to the diagnosis at discharge. The differences of Treg amount between the two groups and different degrees of BPD were analysed. Result A total of 124 premature infants (GA<32 weeks) were admitted, including 41 cases in BPD group (mild, n=18;moderate, n=14; severe, n=9) and 83 cases in the non-BPD group. The BPD group had GA of (29.6 ± 1.1) weeks and birth weight (BW) of (1128 ± 135) g. The non-BPD group had GA of (29.8 ± 1.1) weeks and BW of (1316 ± 180) g. The birth weight, 1min and 5min Apgar scores in BPD group were lower than the non-BPD group (P<0.001). The BPD group had higher incidence of respiratory distress syndrome, longer duration of mechanical ventilation (MV) and oxygen inhalation(P<0.001) than the non-BPD group. The MV duration and oxygen inhalation duration in the severe BPD group were significantly longer than the moderate and mild BPD groups, and the duration in the moderate group was longer than the mild group (P<0.001). The number of Treg in cord blood in the BPD group [(1.43 ± 0.06) × 105 cells/ml] was significantly lower than the non-BPD group [(2.57 ± 0.09) × 105 cells/ml], and the difference was statistically significant (P<0.001). Multivariate Logistic regression analysis showed that a significant decrease in the number of Treg was a risk factor for BPD in premature infants (OR=0.000, 95％CI 0.000 ～ 0.012, P=0.009). The number of Treg in umbilical cord blood was negatively correlated with the severity of BPD. The area under the ROC curve showed that the cut-off value was 1.95 × 105 cells/ml, with Youden index 0.613, sensitivity 85.4％ and specificity 75.9％. Conclusion The number of cord blood Treg cells may be a useful biomarker for predicting BPD in premature infants.
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Objective To study the relationship between single nucleotide polymorphisms (SNPs) of vascular endothelial growth factor A (VEGFA) gene and neonatal necrotizing enterocolitis (NEC).Method From August 2014 to December 2016,preterm infants with a ≥ Ⅱ stage (Modified Bell staging criteria) of NEC admitted to our hospitals were assigned as NEC group.Preterm infants without NEC with similar gestational age and body weight during the same period were assigned as the control group.SNPs of VEGFA including rs1005230,rs833067,rs3025010,rs3025035,rs3025036,rs10434,and rs6905288 were analyzed using SEQUENOM MassARRAY platform and multiplex allele-specific PCR.The concentration of VEGFA in the plasma of the two groups was examined using enzyme-linked immunosorbent assay (ELISA).Result A total of 110 infants were reviewed,including 30 infants in NEC group and 80 infants in the control group.The results showed a significant association of the minor allele frequency (MAF) for T in rs1005230 and C in rs833067 with NEC.The frequencies of C/T (OR=4.810,95％CI 1.742～13.278) and C/T-T/T (OR=4.892,95％CI 1.801～13.246) genotypes in rs1005230,and frequencies of T/C (OR=4.373,95％CI 1.578～12.129) and T/C-C/C (OR=4.000,95％CI 1.484～10.828) genotypes in rs833067 were significantly higher in NEC group than the control group (P＜0.05).Infants with MAF in rs1005230 and rs833067 had significantly lower plasma level of VEGFA than infants without MAF (P＜0.01).Conclusion The SNPs of rs1005230 and rs833067 may be associated with lower level of VEGFA in plasma and higher risk for NEC.
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Objective To explore the application value of cone-shaped gastric tube combined with cervical end-to-end anastomosis in thoracoscopic and laparoscopic esophagectomy for esophageal cancer.Methods The retrospective and descriptive study was conducted.The clinical data of 122 patients with esophageal cancer who were admitted to West China Hospital of Sichuan University from December 2016 to December 2017 were collected.There were 89 males and 33 females,aged (61±8)years,with a range from 48 to 81 years.McKeowntype three-incision esophagectomy was performed,and the cone-shaped gastric tube was pulled up to esophagus in left neck for hand-sewn end-to-end anastomosis after the dissection of esophagus and stomach under total thoracoscopy and laparoscopy.Observation indicators:(1) surgical treatment situations;(2) postoperative complications;(3) follow-up.Follow-up using outpatient examination was performed to detect postoperative gastroesophageal reflux,anastomotic stenosis and evaluate anastomotic width at 1,3,6 months and one year postoperatively up to December 2018.Measurement data with normal distribution were represented by Mean±SD.Measurement data with skewed distribution were described by M (P25,P75) or M (range).Count data were expressed by absolute number.Results (1) Surgical treatment situations:122 patients underwent laparocopic McKeown-type three-incision esophagectomy successfully,using cone-shaped gastric tube combined with cervical hand-sewn end-to-end anastomosis as digestive tract reconstruction,with no intraoperative conversion to open surgery.The operation time,cervical anastomosis time,and volume of intraoperative blood loss were (229 ± 49) minutes,(27± 1) minutes,and 50 mL (40 mL,60 mL),respectively.There were 6-8 stations of lymph node dissected,and the number of lymph node dissected were 19 (15,25).Duration of postoperative hospital stay was 10 days (9 days,11 days) in the 122 patients.(2) Postoperative complications:31 of 122 patients had postoperative complications.The primary complications:3 patients with anastomotic fistula were cured by conservative treatment including enteral nutrition through placement of nutritional tube under gastroscope,closed thoracic drainage and anti-infection;6 cases with severe thoracic gastric dilation were cured after gastrointestinal decompression.The secondary complications of 22 patients included 8 cases with hoarseness caused by recurrent laryngeal never injury,5 with arrhythmia,9 with pulmonary infection.They were cured after symptomatic and supportive treatment.No chylothorax occured,and there was no perioperative death.(3) Follow-up:all the 122 patients were followed up for 10-24 months,with a median time of 19 months.During the follow-up,7 cases with anastomotic stenosis including 4 scoring less than grade 2 and 3 scoring more than grade 3 were relieved after dilation through gastroscope.There were 33 of 122 patients without any reflux symptoms,and 89 with reflux symptoms,among which 52 were scored 1,25 were scored 2 and 12 were scored 3.The width of gastroesophageal anastomosis measured by barium radiography at 1 month after operation was (1.2±0.4) cm.Conclusion Coneshaped gastric tube combined with cervical end-to-end anastomosis in digestive tract reconstruction of thoracoscopic and laparoscopic esophagectomy can reduce the incidence of postoperative anastomotic complications and thoracic gastric dilation,and nasogastric tube placement could be abandoned,which demonstrates good safety and universality.
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OBJECTIVE@#To report on clinical characteristics and genetic findings in 15 Chinese patients with methylmalonic acidemia (MMA).@*METHODS@#For the 15 MMA patients detected by tandem mass spectrometry, genetic analysis was carried out in twelve pedigrees. Clinical characteristics, genetic finding, treatment and outcomes were retrospectively analyzed.@*RESULTS@#The main features of the patients included poor feeding, recurrent vomiting, lethargy, seizure and development retardation. Blood propionylcarnitine (except for 3 patients), its ratio with acetylcarnitine, and urine methylmalonic acid were increased in all patients. Twelve patients were diagnosed genetically, which included 7 with MUT variants, 4 with MMACHC variants, and 1 with MMAB variant. Nine MUT variants were detected, among which c.1159A>C, 753+1delGinsTGGTTATTA and c.504del were novel. Six known pathogenic MMACHC variants and two novel MMAB variants (c.289_290delGG, c.566G>A) were also detected. Seven patients died of metabolic crises within a year, others had improved effectively following the treatment, but had mild to severe growth delay and/or developmental retardation.@*CONCLUSION@#The clinical manifestation of MMA are complex. Most patients have variants of the MUT and MMACHC genes. High mortality may occur before one year of age.
Subject(s)
Humans , Alkyl and Aryl Transferases , Genetics , Amino Acid Metabolism, Inborn Errors , Genetics , China , Methylmalonyl-CoA Mutase , Genetics , Oxidoreductases , Genetics , Pedigree , Retrospective StudiesABSTRACT
Objective To analyze the changes in blood metabolites in premature infants with bronchopulmonary dysplasia (BPD) within 36 h and in the 3rd week after birth in order to find new biomarkers for diagnosis of BPD.Methods The BPD group included 20 premature infants (＜32 gestational weeks) hospitalized in the Neonatal Intensive Care Unit (NICU) of the Sixth Affiliated Hospital of Sun Yat-sen University and diagnosed with BPD from January 2014 to October 2016.Another 20 non-BPD premature infants with similar gestational age (within one week) who were admitted during the same period were enrolled in the control group.Blood samples of both groups were collected within 36 h and in the 3rd week after birth.Liquid chromatography-tandem mass spectrometry was used to detect blood metabolites and the obtained data were subjected to metabolomics analysis using orthogonal partial least squares discriminant analysis.Chi-square test (or Fisher's exact test),Mann-Whitney U test or t test was used for statistical analysis.Results (1) Twenty and 11 blood samples were collected within 36 h and in the 3rd week after birth from the BPD and the control group,respectively.Compared with the control group,the interval between premature rupture of membranes and delivery,the average length of hospital stay,non-invasive and invasive mechanical ventilation duration and the total duration of supplemental oxygen during hospitalization in the BPD group were longer [M (P25-P75) or ((x)±s):13.5 (0.0-98.3) vs 0.0 (0.0-0.0) h,Z=3.049;(66.6±20.5) vs (43.9±9.3) d,t=4.574;267.0 (199.5-516.1) vs 110.5 (0.0-238.5) h,Z=-3.428;117.5 (0.0-269.3) vs 0.0 (0.0-72.0) h,Z=-2.785;(1 184.0±386.6) vs (595.9±270.3) h,t=5.576;all P＜0.05].(2) Within 36 h after birth,the levels of glycine,proline,tryptophan and piperamide-C5:1 in the BPD group were decreased obviously compared with those in the control group [(201.59±65.01) vs (290.90± 137.56) μmol/L,t=-2.625;103.55 (72.43-434.57) vs 439.48 (103.80-608.98) μ mol/L,Z=-2.245;29.54 (20.30-41.04) vs 47.42 (29.46-73.57) μ mol/L,Z=-2.326;50.04 (35.29-104.78) vs 95.79 (76.21-129.97) μmol/L,Z=-2.029;all P＜0.05].However,the glutamate level was increased [(224.30±67.40) vs (182.67±40.87) μmol/L,t=2.362,P＜0.05].(3) In the 3rd week after birth,the levels of glycine,proline and tryptophan in the BPD group were lower compared to those in the control group [(185.92±61.51) vs (271.85± 115.85) μmol/L,t=-2.177;(39.41± 18.22) vs (63.92± 17.50) μ mol/L,t=-3.217;90.23 (37.93-146.37) vs 330.15 (47.79-622.90) μ mol/L,Z=-2.134;all P＜0.05].However,the ornithine level was higher [(75.09± 43.21) vs (39.25 ± 16.53) μ mol/L,t=2.569,P＜0.05].Conclusions Glycine,proline and tryptophan in blood are potential biomarkers for early diagnosis of BPD.
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Objective To study the range of central venous pressure (CVP) in very low birth weight (VLBW) infants within the first week after birth.Method From February 2014 to February 2018,50 VLBW infants without serious diseases during the first 7 days of life received umbilical venous catheters were prospectively enrolled.CVPs were measured every 4～6 h.The trend of CVP and the correlation of CVP (within 24 h) and birth weight,gestational age were analyzed.Result A total of 50 VLBW infants and 1 291 CVP measurements were included.The CVP increased slightly within 48 h after birth,and then declined.The 95％CI of CVPs were 3.67～4.21,4.03～4.49,3.90～4.33,3.67～4.19,3.29～3.97,3.14～3.94 and 2.64～ 3.55 cmH2O from day 1 to day 7.No significant correlation existed between CVP in the first day and birth weight,nor gestational age (r=-0.267,P=0.073;r=0.106,P=0.762).Conclusion The CVP of VLBW infants increased slightly within 48 h after birth,and then declined.There was no significant correlation between CVP in the first day and birth weight,nor CVP and gestational age.
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OBJECTIVE@#To construct a W203X-mutant mouse model of cblC type methylmalonic acidemia based on the CRISPR/Cas9 technology.@*METHODS@#At first, BLAST was used to compare the conservative nature of the cblC gene and protein sequences in humans and mice, and then, the CRISPR/Cas9 technology was used for microinjection of mouse fertilized eggs to obtain heterozygous F1 mice. Hybridization was performed for these mice to obtain homozygous W203X-mutant mice. The blood level of the metabolite propionyl carnitine (C3) was measured for homozygous mutant mice, heterozygous littermates, and wild-type mice.@*RESULTS@#The gene and protein sequences of MMACHC, the pathogenic gene for cblC type methylmalonic acidemia, were highly conserved in humans and mice. The homozygous W203X-mutant mice were successfully obtained by the CRISPR/Cas9 technology, and there was a significant increase in C3 in these mice at 24 hours after birth (P<0.001).@*CONCLUSIONS@#A W203X-mutant mouse model of cblC type methylmalonic acidemia is successfully constructed by the CRISPR/Cas9 technology.
Subject(s)
Animals , Mice , Amino Acid Metabolism, Inborn Errors , CRISPR-Cas Systems , Carrier Proteins , Heterozygote , MutationABSTRACT
Objective To study the characteristics of urinary metabolites in the premature infants with or without bronchopulmonary dysplasia (BPD) within 36 hours after birth and to find new biomarkers for the early warning indicators for BPD.Method From January 2014 to October 2016,premature infants hospitalized in the Sixth Affiliated Hospital of Sun Yat-sen University with gestational age ＜ 32 weeks,hospitalization time ＞ 28 days and urine samples were collected within 36 hours after birth for metabolite detection were enrolled in the study.Preterm infants diagnosed as BPD were selected as the BPD group.Preterm infants with the same gestational age,days of age with the BPD group had no BPD were selected as the control group at a ratio of 1 ∶ 1.The gas chromatography-mass spectrometry was used to measure the metabolites.The data were analyzed using orthogonal partial least squares discriminant analysis and receiver operating characteristic (ROC) curve and the area under which were used to determine the performance of differential metabolites in the diagnosis of BPD.Result There were 20 patients in the BPD group and 20 patients in the control group.Within 36 hours after birth,in the BPD group,the level of fucose and tartrate in urine (nmol/mgCr) were significantly lower than that in the control group [0.00 (0.00,0.03)vs.0.07 (0.00,0.41);0.00 (0.00,0.01) vs.0.02 (0.00,0.06),respectively].The level of kynurenic acid and thymine (nmol/mgCr) were significantly higher than the level in the control group [0.04 (0.00,0.43) vs.0.00 (0.00,0.00);7.10 (0.00,14.47) vs.0.00 (0.00,0.22),respectively].All the differences were statistically significant (P ＜ 0.05).ROC curve analysis showed that the area under the curve for the diagnosis of BPD in combination with the four metabolites was 0.857 (95％ CI 0.732 ～0.982).Conclusion Changes in urinary metabolites such as fucose,thymine,kynurenine and tartaric acid in preterm infants may be related to the development of BPD.Early detection of these four metabolites has potential in the early diagnosis of BPD,and may warn against the occurrence of BPD.
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Objective Circular RNA (CircRNA) plays an important role in the carcinogenesis and development of cancers. However, the relationship between circRNA and nasopharyngeal carcinoma (NPC) has been rarely reported. The aim of this study is to investigate the differentially expressed circRNAs in human NPC and chronic nasopharyngeal mucositis.Methods Three NPC specimens and three chronic nasopharyngeal mucositis specimens which were diagnosed by nasopharyngeal biopsy in the Affiliated Hospital of Guangdong Medical University from November 2016 to March 2017, were enrolled in the study. The circRNA expression profiles of those candidates were assayed by high-throughput human circRNA microarray. After pretreatment and homogenization of the original data, the circRNAs with differential expression were screened out and analyzed by hierarchical clustering. Moreover, Gene Ontology (GO) analysis and KEGG pathway analysis were performed to analyze the functional classification and related pathways.Results Compared with the chronic nasopharyngeal mucositis, there are a total of 829 differentially expressed circRNAs in NPC, among which 761 were found to be up-regulated and 68 were down-regulated. Those differentially expressed circRNAs were analyzed to be mainly related to cell cycle, cell proliferation and other biological processes; mainly involved in p53 signaling pathway, cell cycle and DNA replication signaling pathway.Conclusion Those differentially expressed circRNAs may be associated with the tumorigenesis and development of NPC.