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Purpose@#Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. @*Methods@#We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. @*Results@#Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. @*Conclusion@#The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.
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Objective To evaluate the clinical effect of Tissue-Link combined with Cusa and Pringle in hepatectomy for primary hepatocellular carcinoma. Methods From January 2013 to January 2017,the clinical data of ninety-six primary hepatocellular carcinoma patients who had received hepatectomy were collected. 45 cases of hepatectomy (control group) were performed by Pringle. The other 51 cases (observation group) were treated with Tissue-Link combined with Cusa. The indexes and survival rates were compared between the two groups during and after operation. Results Compared with the control group, the operation time of the observation group was prolonged ((189. 2±45. 8) min vs. (151. 6±34. 7) min,t = -5. 101),the intraoperative blood loss ((273. 5±141. 6) ml vs. (371. 3±127. 2) ml,t = 7. 396),total bilirubin at seventh days after the operation (( 15. 7 ± 8. 9 ) μmol/ L vs. ( 26. 5 ± 10. 8 ) μmol/ L, t = 5. 320 ) and postoperative albumin supplementation((61. 0±9. 7) g vs. (84. 6±9. 3) g,t = 7. 698) of the observation group decreased. The tumor recurrence rate ( 0 vs. 8. 9% ( 4/ 45)), intrahepatic metastasis rate ( 7. 8% ( 4/ 51) vs. 20% ( 9/ 45)), extrahepatic metastasis rate (3. 9% (2/ 51) vs. 17. 8% (8/ 45)) (χ2 =. 031,6. 315,6. 746) decreased and the differences were statistically significant (P< 0. 05) . The 2 year and 3 year tumor free survival rate (88. 2%, 76. 5%) of the observation group was higher than those of the control group (64. 4%,44. 4%,χ2 = 5. 468, 8. 902),and the total survival rate of 3 year after operation (80. 4%) in the observation group was significantly, higher than that of the control group (51. 1%,χ2 = 4. 896),the difference was statistically significant (P<0. 05) . Conclusion Tissue-Link combined with Cusa is superior to Tissue-Link combined with Pringle in hepatectomy for primary hepatocellular carolnoma. It has less intraoperative blood loss, less damage to liver function and a lower relapse rate of ineisional margin,and the disease-free survival rate and overall survival rate are improved significantly.
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Objective To investigate the influence of difference ileocecal junction length on the efficacy of laparoscopic subtotal colectomy combined with antiperistaltic cecorectal anastomosis (LSCACRA) in treatment of slow transit constipation (STC). Methods Ninety- two STC patients undergoing LSCACRA were divided into 2 groups by random digits table method:10-15 cm group (10-15 cm ascending colon preserved above ileocecal junction, 46 cases) and 2-3 cm group (2-3 cm ascending colon preserved above ileocecal junction ,46 cases). All the patients were followed up for 24 months, and the Wexner incontinence score (WIS), ileocecal junction emptying time of barium enema, Wexner constipation score (WCS), abdominal pain intensity score (NRS), gastrointestinal quality of life index (GIQLI), abdominal pain frequency score and abdominal bloating frequency score were compared between 2 groups. Results All the patients successfully completed LSCACRA, with no conversion to open surgery and death occurred. There were no statistical differences in amount of bleeding, operative time, hospitalization time, exhaust time, incidences of postoperative intestinal obstruction and pulmonary infection, defecation time, WIS and abdominal bloating frequency score between 2 groups (P>0.05). The WCS, GIQLI, NRS and abdominal pain frequency scores 6, 12 and 24 months after operation in 2-3 cm group were significantly better than those in 10 - 15 cm group, WCS: (1.7 ± 1.3) scores vs. (4.2 ± 2.3) scores, (1.7 ± 1.1) scores vs. (4.1 ± 1.9) scores, (1.2 ± 0.5) scores vs. (3.9 ± 2.5) scores;GIQLI:(116.8 ± 6.2) scores vs. (98.5 ± 14.7) scores, (122.9 ± 7.5) scores vs. (104.7 ± 16.5) scores, (124.3 ± 5.9) scores vs. (108.3 ± 15.1) scores; NRS: (1.3 ± 0.5) scores vs. (2.5 ± 1.7) scores, (0.9 ± 0.3) scores vs. (2.3 ± 1.4) scores, (0.8 ± 0.3) scores vs. (2.2 ± 1.5) scores;abdominal pain frequency score:(0.9 ± 0.3) scores vs. (1.6 ± 1.2) scores, (0.7 ± 0.3) scores vs. (1.4 ± 1.1) scores, (0.7 ± 0.2) scores vs. (1.2 ± 1.0) scores, and there were statistical differences (P<0.05). The ileocecal junction emptying time of barium enema 24 months after operation in 2-3 cm group was significantly shorter than that in 10-15 cm group: (17.6 ± 8.4) h vs. (21.3 ± 10.8) h, and there was statistical difference (P<0.05). Conclusions STC patients with LSCACRA is safe and effective. The shorter length of ascending colon preserved above ileocecal junction can improve the efficacy of LSCACRA in the treatment of STC and the prognosis of patients. The 2-3 cm length of ascending colon preserved above the ileocecal junction should be recommended.
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Objective To discuss the safety and effectiveness of laparoendoscopic single -site surgery (LESS)in cholecystectomy.Methods LESS and conventional laparoscopic(LC)effect were compared and analyzed in cholecystectomy.48 cases were divided into the two groups,24 cases(group LESS)were cheated by laparoendo-scopic single-site surgery;24 cases(group LC)were cheated by laparoscopic cholecystectomy.Contrasted in their operation time,intraoperative amount of bleeding,intraoperative laparotomy rate,body temperature after operation, complications,intestinal recovery time (postoperative exhaust),hospitalization time after operation,postoperative pain index,cosmetic effect,white blood cell (WBC),serum cortisol (Cortisol,Cor),immunoglobulin A (IgA)and comple-ment (C3 ).Results All cases were successful,no cases converted to laparotomy,no postoperative complications.The operation time of group LESS and group LC were (110.2 ±29.3)min and (77.8 ±31.2)min,respectively,the differ-ence was ststictically significant (t=5.07,P<0.05).The intestinal recovery time and hospitalization time after oper-ation in group LESS were less than that in gruoup LC (P<0.05 ).The cosmetic effect in group LESS (3.5 ± 0.5)was higher than that in group LC(2.1 ±0.5)(P<0.05).Cor and C3 in group LESS were higher than those in group LC(P<0.05 ).Conclusion Laparoendoscopic single -site surgery in cholecystectomy is safe and feasible, compared with traditional laparoscopic operation,operation time in LESS is long,but arapid postoperative recovery, beauty effect is obvious.
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Objective To explore the effect of pathogenesis,diagnosis,therapy and prevention of portal vein thrombosis(PVT) after devascularization.Methods Data of 86 patients who underwent devascularization because of cirrhotic portal hypertension between January 2009 and December 2014 were retrospectively analyzed.Patients were divided into preventive anticoagulant treatment group (46 cases) and nonpreventive anticoagulant treatment group (40 cases) according to whether or not to receive prophylactic anticoagulant therapy.Compared the causes of PVT and clinical characters.Results The occurrence of PVT was 10.9％ (5/ 46) in preventive anticoagulant treatment group,PVT Ⅰ , Ⅱ, Ⅲ, Ⅳdegree were 2,3,0,0 cases,and that was 32.5％ (13/40) in nonpreventive anticoagulant treatment group, PVT Ⅰ , Ⅱ , Ⅲ, Ⅳ degree were 4,7,2,0 cases, the incidence rate of treatment group was lower than control group (x2 =9.735, P ＜ 0.05).There was no relationship in PVT with sex, age, and intraoperative ligation of splenic artery beforehand (P＞0.05).There were apparent correlation in PVT with centrifugal-flow of portal vein and peak value of platelet count(P＜0.05).All patients discharged uneventfully after anticoagulant treatment, including 2 cases of thrombolytic and 4 cases of blood supply recanalization, no case died from PVT.Conclusion The definite cause of PVT after devascularization is centrifugal-flow of portal vein and the peak value of platelet count (300-499) × 109/L is a pivotal risk factor.The key point of therapy is early diagnosis and early anticoagulant treatment.
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<p><b>OBJECTIVE</b>To analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.</p><p><b>METHOD</b>Comprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood. And variations were investigated by sequencing the PCR product. The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene.</p><p><b>RESULT</b>The patient was a 2 years and 4 monthes old boy. He presented with muscle hypotonia and weakness for one year, and experienced recurrent episodes of unstable head control, unable to sit by himself or stand without support, with persistently hyperlactacidemia. Metabolic testing revealed blood lactate 5.37 mmol/L, pyruvate 0.44 mmol/L, and lactate/pyruvate ratio was 12.23. MRI of the brain showed hyperintense signals on the T2 and T2 Flair weighted images in the basal ganglia bilaterally. Sequence analysis of PDHA1 gene showed a G>A point mutation at nucleotide 778, resulting in a substitution of glutarnine for arginine at position 263 (R263Q). And the diagnosis of pyruvate dehydrogenase complex deficiency was identified. By giving the therapy with ketogenic diet, vitamin B(1), coenzyme Q(10) and L-carnitine , the boy was in a stable condition.</p><p><b>CONCLUSION</b>The severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied. Sequence analysis of PDHA1 gene revealed a 788G>A (R263Q) mutation. Patients who presented with unexplained muscle hypotonia, weakness and hyperlactacidemia could be diveded by gene analysis. And appropriate treatment can improve the quality of life.</p>