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【Objective】 To conduct serological identification and molecular study of two patients with ABO ambiguous blood group. 【Methods】 The serological tests were conducted by the tube method. DNA direct sequencing was performed to analyze the exons and transcriptional regulatory regions of the ABO gene. TA clone sequencing was performed to confirm the mutation sites of the haploid. DeepTMHMM was used for transmembrane region prediction and analysis. 【Results】 Both samples showed weak agglutination with anti-A in forward typing and the presence of anti-A antibodies in reverse typing. ABO gene analysis confirmed 1A>G and 467C>T mutations of A101 gene, indicating the Aw43 allele.DeepTMHMM analysis showed that 1A>G mutation shift back the translation start site, which would affect the transmembrane structure seriously. 【Conclusion】 The two cases of ABO ambiguous blood group were with Aw43 alleles. The 1A>G mutation affected the transmembrane region and subsequently altered the glycoprotein structure, resulting in impaired enzyme function.
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Objective:To clarify the changes of intrahepatic ultrasound hemodynamics before and after hepatic artery thrombosis (HAT) after liver transplantation (LT), providing early warning and anticoagulation guidance to clinicians.Methods:The clinical data of patients who underwent liver transplantation at Zhongshan Hospital of Fudan University between June 2006 and October 2022 were retrospectively analyzed, 47 patients with a diagnosis of HAT confirmed by DSA (digital subtraction angiography) were included in the HAT group, and 71 patients without vascular complications were included in the non-HAT group. Differences in peak flow velocity (PSV), resistance index (RI), and portal vein velocity (PVV) were compared between the two groups. Logistic regression analysis was used to determine the relationship between postoperative PSV decline and HAT occurrence, while ROC curve were used to determine the critical value and evaluate the diagnostic efficacy. Patients with HAT were divided into well-treatment group and poor-treatment group according to whether the blood flow was restored after multiple surgeries or thrombolytic treatments. The changes of early intrahepatic hemodynamics after surgical or thrombolytic therapy were compared between the two groups.Results:①A decrease in PSV of the transplanted hepatic artery was measured 1 d before HAT, and PSV<0.39 m/s predicted thrombus formation with a sensitivity of 0.70, specificity of 0.86, and the AUC was 0.83. ②After treatment, PSV in the HAT group increased immediately, approaching the normal level on the 2nd day. In the well-treatment group, PSV and PVV reached normal levels on the first day after treatment, which were significantly higher than the corresponding values in the poor-treatment group ( P=0.030, 0.021). Conclusions:In the early stage after liver transplantation, a PSV<0.39 m/s is related to the occurrence of HAT thrombosis 1 d later. A significant increase in PSV on the first day after treatment indicates a good treatment response, and there is no need for further DSA re-examination or increasing the number of thrombolysis.
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Objective:To analyze the viscosity characteristics of liver tumors and investigate the clinical value of shear wave dispersion (SWD) in the differentiation of benign and malignant liver tumors.Methods:A total of 103 patients with focal liver lesions were prospectively collected in Zhongshan Hospital Affiliated to Fudan University from October 2020 to July 2021, including 80 cases with single lesion and 23 cases with multiple lesions, and only the largest lesion was observed in patients with multiple lesions. SWD values were measured within the tumor and in the liver parenchyma 2 cm away from the tumor, and were compared between benign tumor group and maligant tumor group. The ROC curves of SWD value, SWD ratio and their combination in differentiating benign and malignant liver tumors were plotted respectively, and the optimal diagnostic threshold, the sensitivity, specificity and accuracy of different diagnostic methods were analyzed.Results:Among the 103 patients, 35 were benign and 68 were malignant. The SWD value of liver benign tumor group was lower than that of liver malignant tumor group [(16.38±3.58)m·s -1·kHz -1 vs (18.59±3.12)m·s -1·kHz -1], the SWD value of liver parenchyma background in liver benign tumor group was lower than that in liver malignant tumor group [(10.88±3.37)m·s -1·kHz -1 vs (14.31±3.34)m·s -1·kHz -1], and the differences were statistically significant (all P<0.05). The SWD ratio of benign tumor to surrounding liver parenchyma was higher than that of malignant tumor group [1.57(1.25, 2.00) vs 1.27(1.06, 1.57)], and the difference was statistically significant ( P<0.05). When the SWD value >15.60 m·s -1·kHz -1 was used as the cut-off value, the area under ROC curve (AUC) was 0.72, the sensitivity was 88.2%, the specificity was 51.4%, and the accuracy was 75.7%. The sensitivity, specificity, accuracy and AUC were 58.8%, 74.2%, 63.1%, and 0.68, respectively, when the ratio of SWD value<1.32 was used as the cut-off value. SWD value combined with SWD ratio for the diagnosis of liver malignant tumor, the AUC was 0.88, the sensitivity was 82.3%, the specificity was 83.0%, and accuracy was 81.6%. The diagnostic efficacy of the two in combination for liver malignant tumor was superior to SWD value ( Z=2.678, P=0.007 4) and SWD value ratio ( Z=3.822, P=0.000 1). Conclusions:SWD imaging can reflect the viscosity information of liver tumors and surrounding liver parenchyma, and has potential clinical application value in the differentiation of benign and malignant tumors.
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OBJECTIVE@#To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.@*METHODS@#ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.@*RESULTS@#Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.@*CONCLUSION@#Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.
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Humanos , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Secuencia de Bases , Exones/genética , Mutación Missense , FenotipoRESUMEN
OBJECTIVE@#To determine the genotype of an individual suspected for Aw through DNA sequencing.@*METHODS@#Serologic testing was carried out with standard methods. Exons 6 and 7 of the ABO genes were amplified by PCR and subjected to direct sequencing or sequenced after gene cloning.@*RESULTS@#Serological testing showed that the forward typing and reverse typing were Aw and A, respectively. DNA sequencing revealed that the individual has carried an Aw allele and an O allele. Haplotype sequencing of each allele has revealed a nt543 variant (543G>C) in the Aw allele.@*CONCLUSION@#The individual was verified as a rare A subtype, which was previously unreported in mainland China.
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Humanos , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Exones , Genotipo , FenotipoRESUMEN
Objective:To explore the diagnostic performance of ultrasound attenuation imaging (ATI) in grading the degree of hepatic steatosis in metabolic dysfunction-associated fatty liver disease (MAFLD).Methods:The liver gray-scale ultrasound and ATI examinations were performed on 212 subjects who were treated in Zhongshan Hospital Affiliated to Fudan University from August 2020 to March 2021. The attenuation coefficient(AC) values among different degrees of hepatic steatosis were analyzed and the diagnostic performance of ATI was evaluated. Relationships between AC values and clinical characteristics were assessed by Pearson′s correlation analysis.Results:The AC values for normal liver, mild, moderate and severe fatty liver were (0.56±0.05)dB·cm -1·MHz -1, (0.68±0.09)dB·cm -1·MHz -1, (0.82±0.09)dB·cm -1·MHz -1, (0.94±0.09)dB·cm -1·MHz -1, respectively. There were significant differences in AC values among different hepatic steatosis divisions( P<0.008). There was highly significant correlation between AC values and the degree of hepatic steatosis( r=0.860, P<0.01), moderate correlation between AC values and BMI( r=0.425, P<0.01), weak correlation between AC values and HDL-C( r=-0.237, P=0.029), no correlations between AC values and age, TC, TG, LDL-C ( r=0.083, 0.055, 0.133, -0.039, all P>0.05) .The areas under the receiver operating characteristics curve of ATI for mild fatty liver and above, moderate fatty liver and above, severe fatty liver and above were 0.958, 0.962, 0.918; the sensitivity were 90.1%, 95.8%, 94.9%, the specificity were 96.1%, 87.1%, 73.9%, and the cut-off values were 0.666 dB·cm -1·MHz -1, 0.719 dB·cm -1·MHz -1, 0.803 dB·cm -1·MHz -1, respectively. Conclusions:ATI is a reliable and convenient method for evaluating the degree of hepatic steatosis in MAFLD.
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OBJECTIVE@#To delineate the blood group for a pair of twins with inconclusive ABO blood typing result.@*METHODS@#Serological test for blood group was carried out by using ABO and Rh Blood Grouping Cards (Microcolumn Gel Immunoassay). Sequence specific primer-PCR (PCR-SSP), direct sequencing and TA clone sequencing were used to analyze the ABO gene. Genetic status was analyzed by using 16 short tandem repeat (STR) markers.@*RESULTS@#Red blood cells of the twins displayed 2+ mixed agglutination phenomenon with anti-A, anti-A1 and anti-E. PCR-SSP and DNA sequencing of exons 6 to 7 revealed that they have an ABO*O.01.01/ABO*O.01.02 genotype. DNA sequencing of microsatellite enhancer region revealed presence of A gene. STR analysis revealed more than two haplotypes for 9 loci between the twins. After clustered by anti-A, the red blood cells were divided into two groups: A, CcDEe and O, CcDee, respectively.@*CONCLUSION@#Serological and molecular techniques have characterized the twins as blood group chimeras.
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Humanos , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Quimera/genética , Genotipo , Gemelos/genéticaRESUMEN
<p><b>OBJECTIVE</b>To study the molecular mechanism and polymorphism of D gene of RhD negative and D variants among voluntary blood donors from Qingdao region.</p><p><b>METHODS</b>For 220 D-negative phenotype cases and 5 D variant cases confirmed by serological test, exons 1 to 10 of the RHD gene were detected by a PCR-SSP method. The samples which contain all or part of the exons were sequenced.</p><p><b>RESULTS</b>Among the 220 cases, 166 (75.45%) had complete absence of the RHD gene, while 54 (24.55%) had retained some or all of the 10 exons. Eight genotypes were identified, which included RHD 1227G>A in 28 cases (12.73%), RHD-CE- (2-9) -D in 19 cases (8.64%), RHD-CE- (3-7)-D in 1 case (0.45%), RHD 3G>A in 1 case (0.45%), RHD 711delC in 2 cases (0.91%), RHD 845G>A in 1 case (0.45%), RHD 1013T>C in 1 case (0.45%), and RHD 1227A/G in 1 case (0.45%). No mutation was found in all of the 10 exons. Two alleles were identified in the 5 cases of D variants, which included RHD 845G>A (4 cases) and RHD 697G>A (1 case).</p><p><b>CONCLUSION</b>Absence of the whole RHD gene is common among RhD negative blood donors from Qingdao region, and there are rich genetic polymorphisms for this locus.</p>
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Humanos , Donantes de Sangre , Exones , Mutación , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Sistema del Grupo Sanguíneo Rh-Hr , GenéticaRESUMEN
Objective To evaluate the diagnostic value of virtual touch tissue quantification (VTQ) in the diagnosis of renal allograft fibrosis.Methods The renal allografts of 82 patients with biopsies or nephrectomy were assessed by virtual touch quantification.The renal allograft fibrosis was categorized according to the 2005 updated Banff criteria for a G0~G3 grade.All the results were compared among four groups.Results The mean SWV values in G0~G3 were (2.39 ± 0.31)m/s,(2.45 ± 0.34)m/s,(2.58 ± 0.18) m/s,(3.11 ± 0.40)m/s,respectively.There were no significant differences in the mean SWV value between G0 and G1 group,or between G1 and G2 group(P >0.05).There were significant differences in the mean SWV value between G0~G2 and G3 group,or between G0 and G2 group(P <0.05).Stiffness of renal allograft was significantly correlated to the mean SWV value (Spearman r =0.671,P <0.001).According to the area under the ROC curve,the sensitivity and specificity of SWV (area under ROC curve =0.847,cut-off=2.64 m/s) for grade ≥G2 was 78.9% and 79.5% respectively.Conclusions Stiffness measured by VTQ reflects the interstitial fibrosis in renal allograft.VTQ technique might be a new tool to identify patients with chronic allograft injury.
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Objective To extract principal components from valuable indicators on conventional ultrasoundand contrast-enhanced ultrasound (CEUS) in the differential diagnosis of thyroid benign and malignant lesions and to discuss the diagnostic value of each indicator.Methods One hundred and three patients with 125 thyroid lesions (65 malignant lesions and 60 benign lesions) underwent preoperative grayscale ultrasound (GSUS),color Doppler ultrasound (CDUS) and CEUS examinations.Eighteen indicators were chosen to evaluate every lesion and principal components were extracted by principal component and valuable indicators were ordered by importance.Results There were significant differences on GSUS and CEUS indicators between benign and malignant lesions.The first principal component was the representation of contrast enhanced ultrasound and was valuable in the differential diagnosis of thyroid benign and malignant lesions.The rank of valuable CEUS indicators were homogeneity of enhancement,filling defect,relative arrival time of periphery,peak interior echogenicity,relative arrival time of interior,peak peripheral echogenicity and ring enhancement.Conclusions GSUS and CEUS are valuable in the differential diagnosis of thyroid benign and malignant lesions.
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Objective To investigate the discriminant analysis model of gray-scale ultrasound (GSUS),contrast-enhanced ultrasound (CEUS) and the combination of them in the differential diagnosis of benign and malignant thyroid lesions and the diagnostic values.Methods Ultrasound images of 211 thyroid lesions confirmed by pathology were synthetically reviewed by scoring 5 GSUS indicators including shape (X1),orientation (X2),interior echogenicity (X3),halo sign (X4),and microcalcification (X5),as well as 6 CEUS indicators including relative arrival time of microbubhles in the periphery (X6) and interior (X7),peak periphery (X8) and interior (X9)echogenicity,peripheral ring-enhancement (X10),homogeneity of enhancement (X11).The diagnostic models with their values of GSUS,CEUS and the combination of them were explored by discriminant analysis.Results The discriminant analysis function of GSUS in the diagnosis of thyroid benign and malignant lesions was g1 (X) =0.715 X1+0.276X2 + 1.028X3 +1.197X4 +0.923X5-2.202 with the diagnostic value 86.3%,the discriminant analysis function of CEUS was g2(X) =-0.392X6 +0.541X7-0.117X8 +0.562X9 + 1.173X10 +2.200X11-1.956 with the diagnostic value 89.1%,and the discriminant analysis function of the combination of GSUS and CEUS was g3 (X) =0.418X1 + 0.173X2 + 0.626X3 + 0.558X4 + 0.183X5-0.476X6 + 0.474X7-0.071X8 + 0.399X9 + 0.985X10 +1.639X11-2.530 with the diagnostic value 91.0%.Conclusions GSUS and CEUS were valuable in the differential diagnosis of benign and malignant thyroid lesions,and the combination of GSUS and CEUS was most valuable.
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Objective To identify the mutations of DNA gyrase gyrA and Topoisomerase Ⅳ parC genes in quinolone-resistant Shigella flexneri clinical isolates and evaluate the relevance of amino acid changes in GyrA and ParC to quinolone resistance. Methods Based on the antimicrobial susceptibility testing, 47 S.flexneri clinical isolates with different quinolone susceptibility were selected and the fragments including the quinolone resistance-determining region (QRDR) in gyrA and parC were PCR amplified and sequenced. SAS (V 8.2) software was used to analyze the correlation between quinolone resistance and changes in GyrA and ParC. Results Sense mutation(s) in gyrA and parC were commonly observed in all of 44 quinolone-resistant isolates, whereas no sense mutation was found in the 3 quinolone-susceptible ones. The most frequent mutation is at codon 83(TCG→TTG) of gyrA, which was observed in 43 quinolone-resistant isolates. The mixed model analysis indicated that the alterations in amino acid 83 of GyrA and amino acid 80 of ParC are close related to nalidixic acid resistance (P
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With regard to the ethical nursing for patients suffering from cervical cancer,eight strategies are developed: To help establish credible relationship between nurses and target patients by psychological and ethical nursing and health education such as nursing on nutrition,skin,vaginal irrigation,radio-colitis,radio-cystitis and discharge instruction to the patients.