Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志

Objective@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*Methods@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*Results@#A homozygous missense variant c. 6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*Conclusion@#The c. 6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.

Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

Objective@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*Methods@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*Results@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*Conclusion@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

Effects of heme oxygenase-1 knockdown on proliferation, invasion and metastasis of lung adenocarcinoma A549 cells and its mechanism / 中华肿瘤杂志

Objective@#To investigate the effects of heme oxygenase-1 (HO-1) knockdown on proliferation, invasion and migration of lung adenocarcinoma A549 cells and explore the mechanism.@*Methods@#The expression levels of HO-1 mRNA in human bronchial epithelial cells (HBECs) and human lung cancer cell lines (A549, H1299, H358 and H1993) were detected by real-time quantitative polymerase chain reaction (RT-qPCR), and immunohistochemistry (IHC) was used to detect the expression level of HO-1 in human lung adenocarcinoma specimens. The HO-1 short hairpin RNA (shRNA) was transfected into A549 cells by RNA interference technique. HO-1 stably deleted A549 cells were selected (HO-1 shRNA group) and verified by RT-qPCR and western blot. HO-1 shRNA A549 cells and control shRNA A549 cells were treated with the inducer of autophagy Torin1 or its inhibitor Bafilomycin A1 (Baf A1), respectively. The expressions of autophagic markers LC3B and p62 were determined by western blot. The proliferation, invasion and migration abilities of each group of A549 cells were assessed by cell counting, Transwell and wound healing assays, respectively.@*Results@#The expressions of HO-1 mRNA in lung cancer cell lines (A549, H1299, H358 and H1993) were significantly higher than that of HBECs, and HO-1 upregulated in human lung adenocarcinoma. The expression of p62 protein and the ratio of LC3B-Ⅱ/ LC3B-Ⅰ in no treatment group, Torin1 treatment group and Baf A1 treatment group were significantly higher than those of the corresponding control group (P<0.05). After 11 days of culture, the number of cells in HO-1 shRNA group were 41.8%, 30.4% and 14.0% of the corresponding control group, respectively. The number of lower chamber cells in HO-1 shRNA group were (35.7±2.1), (27.0±1.0) and (38.0±1.0)/field, respectively, which were lower than (66.0±9.2), (39.3±1.2) and (43.0±2.6)/field of the corresponding control group, respectively (P<0.05). The migration distances of HO-1 shRNA group were (7.47±0.91) mm, (4.23±0.82) mm and (5.42±0.24) mm, which were lower than (10.07±1.26) mm, (7.14±0.07) mm and (12.04±0.80) mm of the corresponding control groups, respectively (P<0.05).@*Conclusion@#Knockdown of HO-1 inhibits the proliferation, invasion and migration of A549 cells by impeding autophagy.

Identification of cryptic structural chromosomal aberrations in parents through detection of copy number variations in miscarriage tissues / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic cause for abnormal pregnancies through detecting chromosomal copy number variations (CNVs) in abortic tissues by next generation sequencing (NGS).@*METHODS@#NGS technique was used to detect CNVs in abortion tissues. Parental chromosomal karyotypes were predicted based on the results. The aberrant chromosomal segments of the parents were accurately mapped by G-banding karyotyping analysis and fluorescence in situ hybridization (FISH).@*RESULTS@#In addition to numerical chromosomal aberrations, 12 microdeletion/microduplications were detected by NGS. For 8 families where both parents accepted chromosomal karyotyping, 4 carriers of chromosomal abnormalities were identified. One marker chromosome was missed by karyotyping analysis, and a mother was confirmed to carry a cryptic balanced translocation by FISH.@*CONCLUSION@#NGS can facilitate detection of cryptic chromosomal translocations in couples with repeated pregnancy failure and is of great value for detecting abnormal CNVs for its high sensitivity.

Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志

OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.

Experimental study on attenuation of contrast-induced acute kidney injury by enhancing autophagy in rats / 国际生物医学工程杂志

Objective To evaluate the effects of autophagy on contrast-induced acute kidney injury (CI-AKI) in rat models.Methods Eighteen male rats were divided into control group (Con),CI-AKI group (CI-AKI) and rapamycin-pretreated group (Rapa).In the CI-AKI group,CI-AKI was induced by intraperitoneal injection of iohexol (12.25 g/kg I).In the Rapa group,rapamycin was given by intraperitoneal injection with a dose of 5 mg/(kg ·d) for consecutive 7 days,and then injected with iohexol (12.25 g/kg I).Rats in the Con group were injected by the same dose of saline.The renal function,renal histopathology,and the levels of LC3 Ⅱ / Ⅰ and Beclin-1 as well as catalase (CAT) in the kidneys of rats were evaluated one day after the injection.Results Compared with the Con group,serum creatinine in the CI-AKI group was significantly increased ((239.93±27.00)μmol/L) vs (51.70±10.59) μmol/L,P＜0.05),and the content of CAT was significantly decreased ((14.86 ± 0.32) U/mg vs (18.72±1.46) U/mg,P＜0.05).In the CI-AKI group,renal tubules were severely injured,and the expression of autophagy-related proteins LC3 Ⅲ / Ⅰ and Beclin-1 in renal tissue was increased.Compared with the CI-AKI group,the pretreatment of rapamycin (Rapa group) increased the expression of LC3 Ⅱ / Ⅰ and Beclin-1 as well as the content of CAT in renal tissue ((17.62±1.86) U/mg vs (14.86±0.32) U/mg,P＜0.05),and inhibited the increase of contrast-induced serum creatinine ((187.62± 47.76) μmol/L vs (239.93±27.00) μmol/L,P＜0.05) and renal tubule injury.Conclusions The results showed that contrast administration can induce autophagy activation in kidneys,while enhancing autophagy can attenuate contrast-induced oxidative stress injury and related renal injury.

Analysis of the clinical characteristics and its prognostic factors for hilar cholangiocarcinoma with exaire-sis / 实用肿瘤学杂志

Objective To investigate the clinical characteristics and its prognostic factors for hilar cholangiocarcinoma with exairesis .Methods The clinical data of 58 cases of hilar cholangiocarcinoma were ret-rospectively analyzed .The Kaplan-Meier method was used to estimate the overall survival and disease specific survival rates for these patients .And the factors that may influence the prognosis and survival of patients were an -alyzed using univariate(log-rank test)and multivariate Cox proportional hazard models .Results The median survival time was 22 months for all patients .The 1-,3-and 5-year survival rates were 76%,40%and 21%, respectively.Univariate analysis showed that preoperative albumin (P=0.002),intraoperative blood loss (P=0.039),surgical method(P =0.006),histologic differentiation(P =0.001),portal vein encroached(P =0.014),surgical margin(P=0.020)were correlated factors for postoperative survival duration .Multivariate analy-sis by Cox Proportional Hazard Model showed that surgical method (P=0.022),histologic differentiation(P=0.020)were independent prognostic factors for patients with Hilar cholangiocarcinoma excised .Conclusion Low albumin leve,intraoperative blood loss more than 500 mL,low degree of tumor differentiation,portal vein en-croached ,radical surgery ,positive surgical margin are risk factors for total survival of Hilar cholangiocarcinoma .

The effects of empowerment education on rehabilitation in patients with celebral hemorrhage / 重庆医学

Objective To explore the effects of empowerment education on rehabilitation in patients with celebral hemorrhage . Methods Select 200 cases of patients with celebral hemorrhage cured rehabilitation medical center ,the patients were randomly and single-blindly divided into 2 groups (n=100 each) .Both the treatment group and the control group were given rehabilitation guid-ance on the day of discharge and 1st ,2nd ,4th ,7th ,9th ,12th weeks after discharge .Patients in control group were given compliance education philosophy ,and patients in treatment group were given empowerment education philosophy .Patients of both groups were used Barthel index (BI) to assess the activities of daily living (ADL)and motor assessment scale (MAS) to motor function in the day of discharge and 25th weeks after discharge from hospital .Results The BI [(44 .12 ± 8 .56) vs .(62 .16 ± 8 .77)]and MAS [(18 .70 ± 9 .47) vs .(28 .53 ± 8 .75)]of treatment group were apparently higher than those of the control group (P<0 .01) .The to-tal effective rate of the treatment group was higher than that of the control group(70% vs .85% ) Conclusion Empowerment educa-tion can obviously improve the ADL function and promote the recovery of motor function in patients with cerebral hemorrhage and improve the effect of family rehabilitation .

Bariatric surgery for obesity / 国际外科学杂志

Obesity and related comorbidities have become serious health threats all over the world. Bariatric surgery has been shown to be an effective method for severe obesity in both the short and long term. Patients experience significant and sustained weight loss after bariatric surgery. Moreover, the preexist obesity associated comorbidities have been improved or resolved in most patients. A series of clinical researches have demonstrated the safety and validity of bariatric surgery. The clinical applications of surgery therapy provide an alternative for obesity and related comorbidities.

Clinical analysis of five cases of fulminant type 1 diabetes mellitus / 中华内分泌代谢杂志

The clinical data of 5 cases of fulminant type 1 diabetes mellitus were analyzed retrospectively.This disease was characterized by abrupt onset and severe diabetic ketoacidosis.The mean duration from the appearance of hyperglycemic symptoms to first hospital visit was 3.4 days.The mean plasma glucose level was 47.7 mmol/L,but the mean value of HbA_(1C) level was 6.8% at first visit.The mean fasting serum C-peptide was 40.0 pmol/L,and mean serum postprandial C-peptide was 68.0 pmol/L at onset.β-cell function did not recover after 3-26 months of follow-up.