Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.

Objective:To explore the value of pressure-strain loop (PSL) for non-invasive quantitative assessment of left ventricular myocardial work index (GWI), global work efficiency (GWE), global constructive work (GCW), global wasted work (GWW) in the evaluation of left ventricular myocardial work in patients with hypertrophic cardiomyopathy (HCM).Methods:Thirty-one HCM patients (HCM group) and 36 healthy volunteers (control group) from December 2018 to September 2019 in Henan Provincial People′s Hospital were selected. Relevant clinical data were collected, left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDd), left ventricular end systolic diameter (LVEDs), left atrial diameter (LAD), the maximum wall thickness (MWT), left ventricular mass index (LVMI), the global longitudinal strain (GLS), the peak strain dispersion(PSD) and GWI, GWE, GCW and GWW between the two groups were compared.Results:Compared with the control group, MWT, LAD, E/e′, LVMI in HCM group were significantly increased (all P<0.05); left ventricular myocardial functional parameters of GLS, GWI, GWE, GCW were significantly decreased, and GWW and PSD were significantly increased (all P<0.05). Left ventricular GLS, PSD and GWI, GCW, GWW, GWE have better repeatability within the observer and between observers. ICC within the observer were 0.852, 0.707, 0.917, 0.955, 0.675, 0.618, respectively. And their ICC between observers were 0.837, 0.631, 0.927, 0.944, 0.555, 0.670, respectively. Correlation analysis showed that GLS was positively correlated with GWI, GWE, and GCW ( r=0.765, 0.737, 0.815; all P<0.001), and negatively correlated with GWW and PSD ( r=-0.517, -0.606; all P<0.001). Conclusions:The left ventricular GWI, GWE and GCW decreased in HCM patients, while the GWW increased. PSL can evaluate the damage of left ventricular myocardial work in HCM patients.

Objective Toexploretheapplicationvalueofmulti-parametermagneticresonanceimaging(MP-MRI)inthediagnosis ofprostatecancer(PCa).Methods Theclinicaldataof50patientssuspectedasPCaandadmittedbetweenJanuary2017andJanuary 2018wereretrospectivelyanalyzed.Thepathologicalexaminationwasusedasthegoldstandard,andallpatientsunderwentMP-MRI. Theapplicationvalues(sensitivity,specificity,accuracy,positivepredictivevalue,andnegativepredictivevalue)ofMP-MRIwereevaluatedin thediagnosisofPCa.Results Amongsingleexaminationofeachsequence,thesensitivity,accuracyandnegativepredictivevalueof DWIwerehigher,whilethespecificityandpositivepredictivevalueofT2WIwerehigher.ThesensitivityofMP-MRIcombinationwas assameasthatofDWI,butthespecificity,accuracy,positivepredictivevalueandnegativepredictivevaluewerehigherthanthoseof anysingleexamination.PI-RADSscoresofthePCawerehigherthanthoseofthebenignprostatichyperplasiainT2WI,DWI,DCE-MRI and MP-MRIcombination(P＜0.05).TheADCvalueofthePCawaslowerthanthatofthebenignprostatichyperplasia(P＜0.05). Conclusion MP-MRIcombinationcanobtain moreeffectiveinformationforprostatediseases,andhashigherspecificity,accuracy, positivepredictivevalueandnegativepredictivevalueindiagnosingPCa.

Objective To investigate the value of peak strain dispersion (PSD) in evaluation of synchronicity of left ventricle in maintenance hemodialysis (MHD) patients.Methods Totally 38 MHD patients (MHD group) and 45 healthy volunteers (control group) were enrolled.Two-dimensional dynamic images,including standard apical two-chamber,longaxis and four-chamber views in 3 consecutive cardiac cycles were acquired,and the standard deviation of time-to-peak longitudinal strain,i.e.PSD,in 18 segments of left ventricle were calculated.The difference of PSD between the two groups and the correlation between PSD and other parameters were assessed.Results PSD of MHD group ([54.21 ± 11.55] ms) was larger than that of control group ([35.58±14.37]ms;t=4.653,P＜0.001).In MHD group,PSD had positive correlation with left ventricular mass index (LVMI),interventricular septum thickness at end-systolic (IVSd),left ventricular posterior wall thickness at end-diastolic (LVPWd),left ventricular end-diastolic diameter (LVDd),left ventricular end-systolic volume (LVESV) and left ventricular end diastolic volume (LVEDV;r=0.461,0.466,0.498,0.472,0.414,0.498,respectively,all P＜0.05).Conclusion Left ventricular systolic synchronicity in MHD patients might be impaired in early stage,which can be quantitatively evaluated with PSD.

Objective To explore the systolic function and synchronicity of left ventricle ( LV ) in patients with maintenance hemodialysis( MHD) by layer-specific strain. Methods Forty-three patients with MHD and 48 healthy controls were studied. Three consecutive cardiac cycles two-dimensional dynamic images including standard LV apical two-chamber,long-axis and four-chamber views and LV short-axis views at the levels of basal,middle and apical were acquired. A quantitative software called EchoPAC was used to analyze longitudinal strain(LS) and circumferential strain(CS) of these six dynamic images and peak strain dispersion ( PSD) was automatic computed by the software. The difference of these parameters between the two groups and the correlation between PSD and other parameters were studied. Results Parameters of global layer-specific strain: compared with the control group, global LS and CS of subendocardial,midmyocardial,epicardial and full-thickness myocardium layers were decreased in the MHD group ( P ＜0.01). Parameters of segmental layer-specific strain:LS of 3 layers and full-thickness in basal, middle,apical segments were lower in MHD group than those in control group ( P ＜0.001). CS of 3 layers and full-thickness in middle,apical segments were lower in MHD group than those in control group ( P ＜0.05). There was no significant difference in CS of 3 layers and full-thickness in basal segment between two groups( P ＞0.05). Parameters of synchronicity:PSD of MHD group was larger than that of control group ( t ＝6.094, P ＜0.001). PSD was positively correlated with longitudinal strain of full-thickness (GLS) in MHD group ( rs＝0.478, P ＝0.039). Conclusions Layer-specific strain can noninvasively and accurately quantitate left ventricular systolic function and synchronicity in patients with MHD.

Objective To evaluate the value of longitudinal peak strain ( GLS ) and peak strain dispersion ( PSD) in left ventricular myocardial synchrony and systolic function in patients with obstructive sleep apnea syndrome ( OSAS ) . Methods Seventy male patients with OSAS diagnosed by polysomnography and 26 healthy volunteers were enrolled in this study . According to AHI ,the OSAS patients were divided into three groups :mild group ,moderate group and severe group . Echocardiography was performed on the next day . The Left ventricular ejection fraction ( LVEF) ,diastolic blood pressure , systolic blood pressure ,left ventricular end-diastolic diameter ( LVDd) ,left ventricular end-systolic diameter ( LVDs) ,left atrial diameter ( LAD) ,interventricular septum thickness ( IVST ) ,left ventricular posterior wall thickness ( LVPW) ,global systolic longitudinal strain( GLS) and peak strain dispersion ( PSD) were compared among four groups . The correlation between GLS ,PSD and AHI were analyzed . Results ① Age , height ,weight ,body mass index ( BMI) ,LVEF ,diastolic blood pressure ,systolic blood pressure ,LVDd , LVDs ,LAD and LVPW were not statistically different among the OSAS mild ,moderate ,severe group and control group ( P > 0 .05) . IVST in severe groups was increased than that in control group ( P < 0 .05) . ②Compared with the control group and the mild group ,the PSD increased and the GLS decreased significantly in the moderate and severe groups ( P < 0 .05) ,and there was a statistically significant decrease in the GLS between the severe group and the moderate group ( P < 0 .05) . There was no statistical difference in other parameters among 4 groups ( P > 0 .05) . ③ Pearson correlation analysis showed that AHI was associated with GLS( r 2 = 0 .5026) and PSD( r 2 = 0 .6845) ( P < 0 .05) . Conclusions GLS and PSD can early evaluate the left ventricular myocardial synchrony and systolic function changes in patients with OSAS .

OBJECTIVETo explore the risk factors and prognosis of No.8p lymph node metastasis in cases with advanced gastric cancer.

METHODSClinicopathological and follow-up data of 790 cases with advanced gastric cancer undergoing gastrectomy (including No.8p lymphadenectomy) from October 2003 to October 2013 in Fujian Provincial Tumor Hospital were analyzed retrospectively. Patients receiving neoadjuvant chemotherapy were excluded. Associations of No.8p lymph node metastasis with clinicopathological characteristics and metastasis in other regional lymph node were analyzed. Prognostic difference between positive No.8p group and negative No.8p group was examined.

RESULTSPositive No.8p lymph node was found in 93 cases (11.8%) among 790 cases with advanced gastric cancer. Univariate analysis showed that gender [male 9.8%(56/572) vs. female 17.0%(37/218), P=0.005], preoperative CEA level [<5 μg/L 28.0%(61/218) vs. ≥5 μg/L 5.6%(32/572), P=0.005], tumor size[diameter <5 cm 3.8%(13/346) vs. ≥5 cm 18.0%(80/445), P=0.000], tumor location [gastric fundus and cardiac 10.7% (26/244) vs. gastric body 13.5% (30/222) vs. gastric antrum 10.1% (31/308) vs. total gastric 37.5%(6/16), P=0.007], Borrmann staging [type II( 1.9%(4/211) vs. type III( 11.6% (54/464) vs. type IIII( 30.4%(35/115), P=0.000], tumor differentiation [high 0/8 vs. moderate 6.7%(25/372) vs. low 16.6%(68/410), P=0.000], T staging [T2 2.4%(4/170) vs. T3 13.1%(35/267) vs. T4 15.3%(54/353), P=0.000], N staging [N0 0 (0/227) vs. N1 2.2%(5/223) vs. N2 15.2%(26/171) vs. N3 36.7%(62/169), P=0.000] were closely associated with the No.8p lymph node metastasis. Multivariate analysis that revealed gender (OR=1.762, 95%CI: 1.020-3.043), tumor size (OR=1.107, 95%CI: 1.020-1.203), N staging (OR=4.093, 95%CI: 2.929-5.718), tumor differentiation (OR=1.782, 95%CI:1.042-3.049), and metastasis in No.8a(OR=5.370, 95%CI: 3.425-8.419), No.3(OR=1.127, 95%CI:1.053-1.206), No.6(OR=1.221,95%CI: 1.028-1.450), No.7(OR=2.149, 95%CI: 1.711-2.699), No,11p(OR=2.085, 95%CI: 1.453-2.994), No.14v(OR=2.604, 95%CI: 1.038-6.532) group lymph nodes were the independent risk factors of No.8p lymph node metastasis. One-year, 3-year and 5-year survival rates in positive No.8p group were 85.7%, 47.5% and 22.6%, and those in negative No.8p group were 96.2%, 82.5% and 70.3% respectively, whose differences were significant (χ=109.767, P<0.05).

CONCLUSIONSMetastasis in Np.8p lymph nodes is an important factor affecting the prognosis of patients with advanced gastric cancer. In patients with female gender, tumor diameter ≥5 cm, preoperative late N staging, low tumor differentiation or metastasis in No.8a, No.3, No.6, No.7, No.11p, No.14v group lymph nodes, thorough clean rance of No.8p group lymph node should be considered.

Carcinoembryonic Antigen ; blood ; Female ; Gastrectomy ; Humans ; Lymph Node Excision ; methods ; Lymph Nodes ; physiopathology ; surgery ; Lymphatic Metastasis ; diagnosis ; pathology ; physiopathology ; Male ; Multivariate Analysis ; Neoplasm Grading ; statistics & numerical data ; Neoplasm Staging ; statistics & numerical data ; Prognosis ; Retrospective Studies ; Risk Factors ; Sex Factors ; Stomach Neoplasms ; diagnosis ; mortality ; surgery ; Survival Rate

OBJECTIVETo evaluate the clinicopathologic characteristics and prognostic difference of gastric stump cancer between non-anastomotic site and anastomotic site.

METHODSClinicopathologic data of 149 patients with gastric stump cancer undergoing operation (radical resection and palliative resection) in our department from January 1999 to June 2015 were analyzed retrospectively. Gastric stump cancer was defined as a primary carcinoma detected in the remnant stomach more than 5 years after subtotal gastrectomy for a benign disease(87 cases) or over 10 years after radical subtotal gastrectomy for a malignant disease (62 cases). Patients were divided into the anastomotic site group (72 cases) and the non-anastomotic site group (77 cases) according to tumor sites within the remnant stomach. Clinicopathologic characteristics, operative data, lymph node metastasis and prognosis were compared between the two groups.

RESULTSCompared with non-anastomotic site group, the T stage, N stage and TNM stage were later in the anastomotic site group. Number of case of T1, T2, T3, and T4 stage in anastomotic site group was 1(1.4%), 2 (2.8%), 17(23.6%) and 52(72.2%), while such number in non-anastomotic site group was 8(10.4%), 10(13.0%), 27(35.1%) and 32(41.6%) respectively(χ=17.665, P=0.001). Number of case of N0, N1, N2, and N3 in anastomotic site group was 28 (38.9%), 10 (13.9%), 23 (31.9%) and 11 (15.3%), while such number in non-anastomotic site group was 55 (71.4%), 10 (13.0%), 7 (9.1%) and 5 (6.5%) respectively(χ=19.421, P=0.000). Number of case of stage I(, II(, III( and IIII( in anastomotic site group was 3(4.2%), 10(13.9%), 47(65.3%) and 12(16.7%), while such number in non-anastomotic site group was 16(20.8%), 40 (51.9%), 15(19.5%) and 6(7.8%) respectively(χ=45.294, P=0.000). The histology and Borrmann classification were worse in anastomotic site group. Anastomotic site group had 19 cases(26.4%) of good differentiation and 53 cases(73.6%) of bad differentiation, while non-anastomotic site group had 43 cases (55.8%) of well-differentiated and 34 cases (44.2%) of poorly-differentiated tumors respectively(χ=13.287, P=0.000). Anastomotic site group had 3 cases (4.2%) of Borrmann I(, 17 cases (23.6%) of Borrmann II(, 47 cases(65.3%) of Borrmann III( and 5 cases (6.9%) of Borrmann IIII(, while non-anastomotic site group had 18 cases (23.4%) of Borrmann I(, 16 cases (20.8%) of Borrmann II(, 34 cases (50.6%) of Borrmann III( and 4 cases (5.2%) of Borrmann IIII( respectively(χ=11.445, P=0.010). Compared with non-anastomotic site group, anastomotic site group had a lower curative resection rate [63.9% (46/72) vs. 89.6% (69/77), χ=13.977, P=0.000], a higher combined organ resection rate [33.3% (24/72) vs. 16.9% (13/77), χ=5.394, P=0.020] and a more metastatic lymph nodes (4.3±4.9 vs. 1.9±3.6, t=3.478, P=0.000). The lymph node metastasis rates of No.4, No.10 and jejunal mesentery root lymph node in anastomotic site group and non-anastomotic site group were 15.3% (11/72) and 5.2% (4/77)(χ=4.178, P=0.041), 9.7% (7/72) and 1.3% (1/77) (χ=5.196, P=0.023), and 25.0% (18/72) and 3.9% (3/77)(χ=13.687, P=0.000), respectively. Median followed up of all the patients was 37(2 to 154) months and the overall 5-year survival rate was 44.1%. The 5-year survival rate was 33.1% in anastomotic site group and 55.2% in non-anastomotic site group, and the difference was statistically significant between two groups (P=0.015). In the subgroup analysis according to the histology differentiation, the 5-year survival rate of patients with well-differentiation was not significantly different between two groups (43.7% vs. 56.2%, P=0.872), but the 5-year survival rate of patients with bad differentiation in anastomotic site group was significantly lower than that in non-anastomotic site group(29.8% vs. 53.8%, P=0.029).

CONCLUSIONGastric stump cancer locating in anastomotic site indicates worse differentiation histology, higher lymph node metastasis rate, lower curative resection rate and poorer prognosis.

Aged ; Anastomosis, Surgical ; adverse effects ; mortality ; statistics & numerical data ; Carcinoma ; mortality ; pathology ; therapy ; Female ; Gastrectomy ; adverse effects ; Gastric Stump ; pathology ; surgery ; Humans ; Lymph Nodes ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Grading ; statistics & numerical data ; Prognosis ; Retrospective Studies ; Stomach Neoplasms ; classification ; mortality ; pathology ; therapy ; Survival Rate ; Treatment Outcome

Objective To summarize the clinicopathological characteristics and analyze the prognostic factors of young gastric cancer patients.Methods Data of 1 801 gastric cancer patients (divided into ≤45 years of age group,n =230 cases,and ＞ 45 years old group,n =1 571 cases) undergoing gastrectomy in Department of Gastrointestinal Surgery,Fujian Provincial Cancer Hospital,from June 1999 to November 2015 were retrospectively analyzed.Results Compared with the elderly patients,those ≤45 years old were more female with higher percentage of signet ring cell carcinoma,M1 and non radical resection while less in the upper stomach area (P ＜ 0.05),but there was no statistical difference in tumor size,depth of invasion,lymph node metastasis,Borrmann type,TNM stage,peripheral nerve involvement,cancer embolus,positive margin.Prognostic analysis showed the difference of 5-years survival rate was not statistically significant between young and elderly patients.But the 5-year survival rate in young patients with signet ring cell carcinoma undergoingt radical gastrectomy was better than that of elderly patients (P =0.047,0.038).Multivariate regression analysis showed that M staging and surgical modality were independent prognostic factors for these ≤ 45 years old patients.Conclusion Although there are special clinicopathological features of gastric cancer in young patients,but the postoperative prognosis is relatively the same as those elderly patients.

The quarantine inspection and acceptance of laboratory animals is an important work, which can protect animals from pollution, occurrence and spread of diseases in the surounding area, and it is the key point to realize the quality standardization of laboratory animals.Beagle dogs are acknowledged widely as specialized laboratory dogs which is widely employed in experiments of drug safety evaluation because of the good genetic stability, environmental adaptability, disease resistance and consistency testing in the experiments.Establishment of standard operating procedures of beagle dog quarantine acceptance check for drug GLP organization tests, refining technical points, strengthen the technical training of quarantine officers, and efforts to improve the level of quarantine are needed to finally ensure the quality of laboratory animals.