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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 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 explore the clinical characteristics and correlation of adult primary nephrotic syndrome (PNS) with thyroid dysfunction,and early identify high-risk adult PNS patients with abnormal thyroid function by clinical data.Methods The clinical data of 101 adult PNS patients in Heji Hospital Affiliated to Changzhi Medical College from March 2015 to December 2017 were retrospectively analyzed.According to the thyroid function,the patients were divided into 2 groups:normal thyroid function group (67 cases) and thyroid dysfunction group (34 cases),including 9 cases with low triiodothyronine (T3) syndrome and 25 cases with subclinical hypothyroidism.The clinical data were compared,and the correlation between thyroid-stimulating hormone (TSH) and 24 h urinary protein,blood albumin and systolic blood pressure were analyzed.Results The incidence of thyroid dysfunction in adult PNS patients was 33.66% (34/101),including 21 cases of membranous nephropathy,8 cases of minimal change disease,4 cases of IgA nephropathy and 1 case of membranoproliferative nephritis.The 24 h urinary protein in thyroid dysfunction group was significantly higher than that in normal thyroid function group:(8.76 ± 3.62) g vs.(6.96 ± 3.43) g,the albumin was significantly lower than that in normal thyroid function group:(21.82 ± 4.89) g/L vs.(24.49 ± 4.14) g/L,and there were statistical differences (P<0.05 or <0.01);there was no significant difference in gender composition,age,course of disease,systolic blood pressure,diastolic blood pressure,body mass index,hemoglobin,platelet,creatinine,cystatin C,fasting blood glucose,total cholesterol,triacylglycerol,low-density lipoprotein cholesterol (LDL-C),fibrinogen,complement C3,IgG,IgM,IgA,PNS types and comorbidities between 2 groups (P>0.05).The results of subgroup analysis results showed that the systolic blood pressure in subclinical hypothyroidism patients of thyroid dysfunction group was significantly higher than that in normal thyroid function group and the low T3 syndrome patients of thyroid dysfunction group:(148.16 ± 18.09) mmHg (1 mmHg =0.133 kPa) vs.(139.55 ± 18.77) and (127.78 ± 16.81) mmHg,the 24 h urinary protein was significantly higher than that in normal thyroid function group:(9.00 ± 3.64) g vs.(6.96 ± 3.43) g,the albumin was significantly lower than that in normal thyroid function group:(21.71 ± 5.26) g/L vs.(24.49 ± 4.14) g/L,and there were statistical differences (P<0.05).Pearson correlation analysis result showed that TSH had no correlation with 24 h urinary protein and systolic blood pressure (r =0.193 and 0.072,P =0.053 and 0.472);however TSH was negatively correlated with albumin (r =-0.340,P =0.001).Conelusions In adult PNS patients with thyroid dysfunction,membranous nephropathy is the most common,followed by minimal change disease.The systolic blood pressure in PNS patients with subclinical hypothyroidism is significantly higher than that in patients with normal thyroid function and low T3 syndrome.In adult PNS patients,the lower the blood albumin is,the more likely they have thyroid dysfunction.
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The Bcr-Abl oncogene is produced by the reciprocal translocation between c-Abl gene on chromosome 9 and the Bcr gene on chromosome 22 in human genome. The encoded Bcr-Abl fusion protein is responsible for the pathogenesis of certain human leukemias. Abelson murine leukemia virus (A-MuLV) is a retrovirus that could lead to transformation of B lymphocyte in mice, and v-Abl is the oncogene of A-MuLV. Abl oncoproteins (such as Bcr-Abl and v-Abl) play critical roles in tumorigenesis of certain cell types. Several signal transduction pathways, including JAK/STAT/Pim, PI3K/AKT/mTOR and RAS/RAF/MEK signaling pathway, are involved in Abl-mediated tumorigenesis. In addition, Abl-mediated tumorigenesis is associated with mutation or abnormal modification of key signal molecules as well as dysregulation of some critical long noncoding RNAs (lncRNAs). Here, we review the molecular mechanisms by which Abl oncogenes activate three major signaling pathways, and provide a scientific basis for therapy of Abl oncoprotein-induced tumors.
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Animais , Humanos , Vírus da Leucemia Murina de Abelson , Transformação Celular Neoplásica , Proteínas de Fusão bcr-abl , Genes abl , Fosfatidilinositol 3-QuinasesRESUMO
Objective@#To investigate the urinary metabolic spectrum and pathways in very low birth weight (VLBW) premature infants.@*Method@#A prospective case-control study was conducted to collect and compare the data of VLBW premature infants and full term infants from the Sixth Affiliated Hospital of Sun Yet-Sen University in 2014. Within 24 hours after birth, urine specimens in each group were collected. Metabolites of urine samples including amino acid, fatty acid and organic acid were detected using the urease pre-processing and gas chromatography mass spectrometry (GC-MS) technology. Using the orthogonal partial least squares discriminant analysis (OPLS-DA), the biomarkers and differences between the two groups were found. The online metabolic pathway website was explored and multivariable analysis was conducted to investigate the valuable pathways and biomarkers related to the prematurity.@*Result@#A total of 20 VLBW premature infants were enrolled, among whom 11 were male, 9 were female; and 20 full term infants were enrolled, among whom 9 were male, 11 were female. The urinary metabolites were established and compared between the VLBW premature and term infants. The investigation showed that the following nine pathways were enriched: amino-acyl-tRNA biosynthesis(P=0.000), lysine degradation(P=0.007), fatty acid biosynthesis(P=0.008), pyrimidine metabolism(P=0.014), pantothenate and CoA biosynthesis(P=0.022), valine, leucine and isoleucine biosynthesis(P=0.022), lysine biosynthesis(P=0.031), glycerolipid metabolism(P=0.046), and valine, leucine and isoleucine degradation(P=0.031). Almost all the metabolites decreased except for the glyceric acid exhibiting a higher content in the VLBW premature infant. 12 potential biomarkers were explored with the most significant covariance and correlation, within which stearic acid, palmiticacid, myristic acid, β-amino-isobutyric acid, and uric acid were lower, while myo-inositol, mannitol, glycine, glucose1, glucose2, glyceric acid and N-acetyl-tyrosine were higher in the VLBW premature group compared with the control group.@*Conclusion@#There is a significant difference between the VLBW premature infants and full-term infants in the metabolic state and pathways. The urease pre-processing and GC-MS technology followed by the OPLS-DA and multivariable analysis to investigate VLBW premature infants′ urinary metabolites is a valuable method to evaluate the patients′ metabolism.
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Objective To investigate and analyze the perioperative nursing of patients with breast cancer, and explore the effectiveness of the application of mind map in perioperative nursing care of patients with breast cancer. Methods The cluster sampling method was employed, and 265 patients with breast cancer receiving radical mastectomy treatment from department of general surgery of the First Affiliated Hospital of Liaoning Medical University were gathered according to the inclusion and exclusion criteria. 137 cases were assigned to test group (May 2014 to April 2015), and 128 cases were assigned to control group (May 2013 to April 2014 ). Nursing work was improved by establishing research group, discussing the design of perioperative nursing mind map and applying mind maps. Effect was evaluated by evaluating the incidence of postoperative complications in patients with breast cancer, the quality of patient′s life and the patient′s satisfaction. Results The incidence of bleeding, seroma, flap necrosis, upper extremity swelling and other postoperative complications of patients with breast cancer in test group was 26.28%(36/128),and that in control group was 73.44%(94/137). The differences between the two groups were of statistical significance (χ2=58.891, P<0.01). The perioperative survival quality scores of physiology, society/family, emotions, function, additions and total in the test group were (2.43 ± 1.09), (2.64±0.97), (2.85±0.97), (2.43±1.09), (2.22±1.12),(2.34±1.13), and that in the control group were (1.89± 1.09), (1.89 ± 1.06), (1.78 ± 0.92), (1.89 ± 1.09), (1.76 ± 1.05), (2.00 ± 1.09)respectively. The differences between the two groups were statistically significant (t=4.664-10.829,P<0.01). The proportion of patient satisfaction in test group was 94.89%(130/137),and that in control group was 82.03%(105/128), respectively. The differences between the two groups were statistically significant (χ2=10.900, P < 0.01). Conclusions Application of mind map in nursing intervention is able to help nurses to grasp the key content and direction of perioperative nursing on patients with breast cancer. More importantly, not only can it improved patients′quality of life and reduce the incidence of postoperative complications, but also increases patients′satisfaction.
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Objective To study the effect of bacillus licheniformis and live combined bifidobacterium and lactobacillus on chemotherapy-induced diarrhea (CID). Methods Seventy-two gastric cancer patients with CID were collected and the clinical data were analyzed retrospectively. The patients were divided into 4 groups according to different treatment methods with 18 cases each. The patients in group A were treated with montmorillonite powder, the patients in group B were treated with montmorillonite powder and bacillus licheniformis, the patients in group C were treated with montmorillonite powder and live combined bifidobacterium and lactobacillus, and the patients in group D were treated with montmorillonite powder, bacillus licheniformis capsule and live combined bifidobacterium and lactobacillus. The patients with severe diarrhea in 4 groups were treated with rehydration, maintaining water and electrolyte balance and nutritional support. The Karnofsky performance scale score (KPS score), diarrhea grading before and after treatment and treatment effect were recorded. Results The KPS score after treatment in group A, group B, group C and group D were significantly higher than that before treatment: (70.6 ± 10.6) scores vs. (62.2 ± 12.2) scores, (76.1 ± 7.8) scores vs. (61.7 ± 9.9) scores, (77.2 ± 7.5) scores vs. (61.1 ± 10.8) scores, (83.9 ± 5.0) scores vs. (63.9 ± 10.9) scores. Moreover, The KPS score in group B, group C and group D were significantly higher than that in group A, the KPS score in group D was significantly higher than that in group B and group C, and there were statistical differences (P<0.05). The diarrhea grading after treatment in 4 groups were improved compared with that before treatment. Furthermore, the diarrhea grading in group B, group C and group D were significantly better than that in group B and group C, and there were statistical differences (P<0.05). In group A, there were 2 cases with excellent effect, 10 cases with effect and 6 cases with no effect;in group B, there were 8 cases with excellent effect, 8 cases with effect and 2 cases with no effect;in group C, there were 7 cases with excellent effect, 9 cases with effect and 2 cases with no effect; in group D, there were 9 cases with excellent effect, 9 cases with effect and 0 case with no effect. The treatment effect in group D was significantly better than that in the other 3 groups, and there were statistical differences (Hc = 10.81, P<0.05). Conclusions Bacillus licheniformis and live combined bifidobacterium and lactobacillus is more effective in the treatment of gastric cancer patients with CID.
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Objective To study the adsorption and separation of licorice flavonoid with macroporous resins. Methods Eight types of macroporous resin were selected to compare their performances in absorbing and desorbing licorice flavonoid. The optimal type for licorice flavonoid was decided, meanwhile, its kinetic curve and dynamic absorbing behavior were studied. Results HPD300 resin possessed higher adsorption and desorption capacity. The appropriate adsorption and desorption conditions were as follows:concentration of sample was 2.0 mg/mL, velocity of sample solution was 1.5 BV/h, volume of sample solution was 2 BV (bed volume);velocity of 80%ethanol was taken as eluant 1.5 BV/h, and the volume was 3 BV. Flavonoid content was increased more than 2 times under above conditions. Conclusion HPD300 macroporous resin showed better comprehensive adsorption property. It can be used to purify and separate licorice flavonoid.
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Objective To study the function of ginsenoside Rg3 on proliferation in human breast cancer cell line MCF-7 and effect of ginsenoside Rg3 on Cx26 gene expression and gap junctional intercellular communication (GJIC) in MCF-7, cultured in vitro. MethodsHuman breast cancer cells MCF-7 was exposed to ginsenoside Rg3 at differential concentrations for 24 h, respectively. The cell proliferation inhibition was measured by 3-[4,5-dimethylthiazo-2-yl]-2,5 diphenyl tetrazolium bromide (MTT) assay. The expression of Cx26 mRNA was measured by RT-PCR in experimental groups and control goup. The GJIC function of MCF-7 cell was examined with scrape-loading dye transfer assay.ResultsHuman breast cancer cell line MCF-7 was exposed to ginsenoside Rg3 at a concentration of 10, 20, 40, 80, 160 μg/ml, respectively.The inhibition ratio was 3.1%, 5.2 %, 16.0 %, 26.3 %, 29.1% respectively after 24 h. Compared with control group, the concentration of 40 μg/ml above could significantly inhibit MCF-7 cell proliferation (P <0.05), so the experimental groups were exposed to ginsenoside Rg3 at a concentration of 40, 80, 160 μg/ml,respectively. The expression of Cx26 mRNA in every experimental group compared with control group was enhanced when MCF-7 cell was exposed to ginsenoside Rg3 at a higher concentration. It was observed that Lucifer yellow fluorescent staining was limited to a single cell in control group through fluorescent microscope,but Lucifer yellow fluorescent transfered through gap junction cells to neighboring cells, then came into being flake fluorescent staining in experiment groups. ConclusionGinsenoside Rg3 can enhance the expression of Cx26 mRNA in MCF-7 cell and restore the gap junctional intercellular communication, which may be one of important mechanisms of ginsenoside Rg3 in antitumor.
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To evaluate the influence of known coronary artery disease(CAD)on perioperative cardiac events in elderly patients undergoing noncardiac surgery,3028 consecutive patients who underwent major noncardiac procedures, with or without a history of CAD, were analyzed in terms of types and nature of surgery, clinical history and perioperative cardiac complications. Among the patients CAD, there were more urologic operations, and clinical history of internal diseases compared with the patients without CAD. Patients with CAD had an increased odds ratio for myocardial ischemia and arrhythmia (OR, 20 3 [95% CI, 6 5 to 65 7] and OR, 7 4 [CI, 4 4 to 12 3]) during operation, and also for postoperative myocardial ischemia, myocardial infarction, cardiogenic pulmonary edema and arrhythmia (OR, 8 3 [95% CI, 4 7 to 14 7], OR, 3 9 [95% CI, 1 2 to 12 2], OR, 7 9 [95% CI, 3 8 to 16 6] and OR, 1 7 [CI, 1 3 to 2 4]) compared with patients without CAD. The results indicated that elderly patients with CAD who underwent noncardiac surgery were more frequently associated with clinical history of internal diseases, and had a higher rate of major perioperative cardiac complications.