This article presented the maternal and infant outcomes of glycogen storage disease type Ⅲa (GSDⅢa) in a woman with full-term pregnancy. The woman exhibited symptoms of hypoglycemia when she was three months old, which were alleviated with intravenous glucose infusion. At the age of 19, during surgical treatment for scoliosis, she was found with liver cirrhosis, splenomegaly, and thrombocytopenia. Glycogen debranching enzyme deficiency was detected through liver biopsies, leading to the clinical diagnosis of GSDⅢ (unspecified genotype). The patient was admitted after conceiption due to "irregular lower abdominal pain for 1 day" at 34 weeks and 3 days. Through multidisciplinary management in the late pregnancy, which included medication adjustments, dietary instruction, and platelet transfusions both at half an hour before and during the operation, the patient underwent a cesarean section at 37 +1 weeks of gestation and delivered a healthy boy with normal Apgar scores at 1, 5, and 10 min. The mother followed a high-protein diet postpartum and the newborn experienced hypoglycemia after birth. Intravenous glucose was supplied to the infant, restabilizing his blood glucose. Maternal and neonatal blood glucose both remained stable. Postpartum whole-exome sequencing identified compound heterozygous variants in the mother, which were in the AGL gene at chr1:100379102-100379103 with gene variant information of NM_000642.2:c.3971_3972delAT(p.Tyr1324*) and at chr1:100345603 with gene variant information of NM_000642.2:c.1735+1G>T, confirming the diagnosis of GSDⅢa. The newborn carried a heterozygous variant in the AGL gene at chr1:100379102-100379103 with gene variant information of NM_000642.2:c.3971_3972delAT(p.Tyr1324*). Postpartum follow-ups showed stable blood glucose levels for the mother and normal growth and development for the newborn.

Objective To analyze the expression of KCNJ11 mRNA in gliomas and its prognostic value. Methods The clinical, histopathological and molecular pathological features of 273 patients with gliomas were collected from CGGA. We analyzed the differences of KCNJ11 mRNA expression in different types of gliomas and the survival time of patients with high and low expression of KCNJ11 mRNA in different subtypes of gliomas. Results The expression levels of KCNJ11 mRNA in young glioma and primary glioma patients were higher than those in old glioma and recurrent glioma patients, respectively (P=0.008, 0.001). The expression of KCNJ11 mRNA in oligodendroglioma was the highest, astrocytoma was the second, and glioblastoma was the lowest (P=0.000). The expression of KCNJ11 mRNA in WHOⅡ grade glioma was the highest, WHOⅢ was the second, and WHOⅣ was the lowest (P=0.000). The expression levels of KCNJ11 mRNA in IDH-mutant type glioma patients were higher than those in IDH-wild type glioma patients (P=0.000). The expression of KCNJ11 mRNA in deletion of 1p/19q glioma patients was higher than that in non-deletion of 1p/19q ones (P=0.000). The expression of KCNJ11 mRNA in MGMT methylated glioma patients was higher than that in non-methylated ones (P=0.036). The survival time of patients with high expression of KCNJ11 mRNA (≥2.77) was longer than that with low expression (P=0.000). Multivariate Cox analysis showed that the high expression of KCNJ11 mRNA was an independent factor affecting the good prognosis of patients with glioma. Conclusion The expression of KCNJ11 mRNA is negatively related to the malignant degree of the tumor. The high expression of KCNJ11 mRNA is an independent factor affecting the good prognosis of patients with glioma.

Background::The potential impact of β cell function and insulin sensitivity on adverse pregnancy outcomes in women with gestational diabetes mellitus (GDM) remains uncertain. We aimed to investigate the association between β cell dysfunction, insulin resistance, and the composite adverse pregnancy outcomes.Methods::This observational study included 482 women diagnosed with GDM during pregnancy. Quantitative metrics on β cell function and insulin sensitivity during pregnancy were calculated using traditional equations. The association of β cell dysfunction and insulin resistance with the risk of the composite adverse pregnancy outcomes was investigated using multivariable-adjusted logistic regression models.Results::Multivariable-adjusted odds ratios (ORs) of adverse pregnancy outcomes across quartiles of homeostatic model assessment for insulin resistance (HOMA-IR) were 1.00, 0.95, 1.34, and 2.25, respectively ( P for trend = 0.011). When HOMA-IR was considered as a continuous variable, the multivariable-adjusted OR of adverse pregnancy outcomes was 1.34 (95% confidence interval 1.16-1.56) for each 1-unit increase in HOMA-IR. Multivariable-adjusted ORs of adverse pregnancy outcomes across quartiles of homeostatic model assessment for β cell function (HOMA-β) were 1.00, 0.51, 0.60, and 0.53, respectively ( P for trend = 0.068). When HOMA-β was considered as a continuous variable, the multivariable-adjusted OR of adverse pregnancy outcomes was 0.57 (95% CI 0.24-0.90) for each 1-unit increase in HOMA-β. However, other quantitative metrics were not associated with the composite adverse pregnancy outcomes. Conclusions::We demonstrated a significant association of β cell function and insulin sensitivity with the risk of adverse pregnancy outcomes. We have provided additional evidence on the early identification of adverse pregnancy outcomes besides the glycemic values.

Objective:To investigate the mRNA expression of adenosine triphosphate binding cassette subfamily C member 8 (ABCC8) in gliomas and its application value as an index for predicting the prognosis of gliomas.Methods:The data of sex, age, histopathological type, WHO grade, isocitrate dehydrogenase (IDH) mutation, 1p/19q deletion, survival time and ABCC8 mRNA expression of 304 patients with gliomas (study group) in the Chinese glioma Genome Atlas (CGGA) database were collected. The prognostic factors of patients with gliomas were determined by univariate and multivariate Cox regression analysis. This result was verified by the data of 506 glioma patients in TCGA database and 271 glioma patients in REMBRANDT database.Results:The expression of ABCC8 mRNA in 304 cases of gliomas in the study group was 15.93±1.23. ABCC8 mRNA expression was correlated with age, histopathological type, WHO grade, IDH mutation status, 1p/19q deletion status and WHO molecular grade ( P<0.01). The median survival time of patients in ABCC8 mRNA high expression group was 85.60 months, which was significantly longer than 14.07 months in low expression group ( P<0.001). Univariate Cox regression analysis showed that age, histopathological type, WHO grade, IDH mutation status, 1p/19q deletion status, postoperative radiotherapy, postoperative chemotherapy and ABCC8 mRNA expression were related to the overall survival time of patients ( P<0.05). Multivariate Cox regression analysis showed that WHO grade ( HR=3.117, 95% CI: 1.970-4.930), 1p/19q deletion status ( HR=0.285, 95% CI: 0.155-0.526), postoperative chemotherapy ( HR=0.680, 95% CI: 0.488-0.948) and ABCC8 mRNA expression ( HR=0.690, 95% CI: 0.491-0.971) were independent factors for the overall survival of patients. In the TCGA dataset, the median survival time of patients with high ABCC8 mRNA expression group was 133.70 months, which was longer than 19.60 months of patients with low ABCC8 mRNA expression group ( P<0.001). In Rembrandt dataset, the median survival time of patients with high ABCC8 mRNA expression group was 37.93 months, which was longer than 15.83 months of patients with low expression group ( P<0.001). Conclusions:The expression level of ABCC8 mRNA in glioma is related to the degree of malignancy. The higher degree of malignancy, the lower the expression. The expression level of ABCC8 mRNA is an independent factor for the overall survival of patients with gliomas. The overall survival of patients with high ABCC8 mRNA expression is longer than that of patients with low ABCC8 mRNA expression.

Objective:To investigate the mRNA expression of adenosine triphosphate binding cassette subfamily C member 8 (ABCC8) in gliomas and its application value as an index for predicting the prognosis of gliomas.Methods:The data of sex, age, histopathological type, WHO grade, isocitrate dehydrogenase (IDH) mutation, 1p/19q deletion, survival time and ABCC8 mRNA expression of 304 patients with gliomas (study group) in the Chinese glioma Genome Atlas (CGGA) database were collected. The prognostic factors of patients with gliomas were determined by univariate and multivariate Cox regression analysis. This result was verified by the data of 506 glioma patients in TCGA database and 271 glioma patients in REMBRANDT database.Results:The expression of ABCC8 mRNA in 304 cases of gliomas in the study group was 15.93±1.23. ABCC8 mRNA expression was correlated with age, histopathological type, WHO grade, IDH mutation status, 1p/19q deletion status and WHO molecular grade ( P<0.01). The median survival time of patients in ABCC8 mRNA high expression group was 85.60 months, which was significantly longer than 14.07 months in low expression group ( P<0.001). Univariate Cox regression analysis showed that age, histopathological type, WHO grade, IDH mutation status, 1p/19q deletion status, postoperative radiotherapy, postoperative chemotherapy and ABCC8 mRNA expression were related to the overall survival time of patients ( P<0.05). Multivariate Cox regression analysis showed that WHO grade ( HR=3.117, 95% CI: 1.970-4.930), 1p/19q deletion status ( HR=0.285, 95% CI: 0.155-0.526), postoperative chemotherapy ( HR=0.680, 95% CI: 0.488-0.948) and ABCC8 mRNA expression ( HR=0.690, 95% CI: 0.491-0.971) were independent factors for the overall survival of patients. In the TCGA dataset, the median survival time of patients with high ABCC8 mRNA expression group was 133.70 months, which was longer than 19.60 months of patients with low ABCC8 mRNA expression group ( P<0.001). In Rembrandt dataset, the median survival time of patients with high ABCC8 mRNA expression group was 37.93 months, which was longer than 15.83 months of patients with low expression group ( P<0.001). Conclusions:The expression level of ABCC8 mRNA in glioma is related to the degree of malignancy. The higher degree of malignancy, the lower the expression. The expression level of ABCC8 mRNA is an independent factor for the overall survival of patients with gliomas. The overall survival of patients with high ABCC8 mRNA expression is longer than that of patients with low ABCC8 mRNA expression.

Objective:To evaluate the clinical, radiological and arthroscopic outcomes after surgical repair for chronic lateral meniscus posterior root (LMPR) avulsion combined with anterior cruciate ligament (ACL) reconstruction.Methods:From July 2015 to June 2017, a total of 33 patients who underwent transtibial pull-out suture repair for chronic LMPR avulsion combined with anatomic single-bundle ACL reconstruction with hamstring graft were retrospectively reviewed. There were 30 males and 3 females with an average age of 27.7±7.5 years (range 17-45 years) and a mean BMI of 25.2±3.7 kg/m 2 (range 19.4-36.7 kg/m 2). All patients were available for at least two years of follow-up. A second-look arthroscopy was performed to evaluate the healing status of the repaired meniscus. Subjective knee function was assessed through Lysholm and Tegner scores. Objective knee stability was evaluated using KT-1000 arthrometer side-to-side difference (SSD) and pivot shift test under anesthesia. The tibiofemoral relationship was evaluated by anterior tibial subluxation (ATS) measured on axial MRI. Between patients with preoperative ATS ≥6 mm (18 patients in the ATS positive group) and <6 mm (15 patients in the ATS negative group), the postoperative ATS and the reduction of ATS was also compared. Results:After a mean follow-up of 27.5±4.0 months (range 24-39 months), the LMPR avulsion completely healed in 23 (70%) cases, partially healed in 9 (27%) cases, failed to heal in 1 (3%) case on second-look arthroscopy. The Lysholm score was increased from 60.4±13.6 to 82.7±11.1 at 1 year and to 91.4±9.1 at 2 years operatively ( F=155.996, P<0.001). The Tegner score was increased from 3(2, 5) to 4(3, 5) at 1 year and 6(4, 6) at 2 years postoperatively (χ 2=47.791, P<0.001). The KT-1000 SSD was decreased from 9.1±3.3 mm to 2.0±1.7 mm ( t=11.197, P<0.001). The result of pivot shift test was also improved (10 grade I, 20 grade II, 3 grade III, preoperatively vs 30 grade 0, 3 grade I, postoperatively, U=5.161, P<0.001). The ATS was reduced from 5.7±3.9 mm to 3.5±3.2 mm ( t=3.530, P=0.001). However, there was no statistically significant decrease in the ATS of the ATS negative group ( t=0.400, P=0.695). The ATS of the ATS positive group was reduced from 8.7±1.8 mm to 5.0±3.3 mm ( t=4.765, P<0.001), and the ATS reduction of the ATS positive group was greater than that of the ATS negative group (3.7±3.3 mm vs 0.3±2.8 mm, t=3.115, P=0.004). Conclusion:In patients undergoing ACL reconstruction, the transtibial pull-out suture repair for chronic LMPR avulsion yielded meniscus healing rate of 97% with improved subjective knee function and objective knee stability and better restored the tibiofemoral relationship for patients with excessive ATS.

Objective:To explore the risk factors of primary anterior cruciate ligament (ACL) reconstruction failure.Methods:From November 2015 to May 2017, a total of 178 consecutive patients with clinically diagnosed non-contact ACL injury were treated and followed-up more than 2 years. Twenty-five patients (post-operative failure group) who underwent completely ruptured ACL graft confirmed by MRI, positive pivot-shift test, more than 5 mm side-to-side difference (SSD) measured by KT-1000 arthrometer, more than 5 mm static anterior tibial translation (ATT) measured on MRI were determined to be ACL reconstruction failure. They were matched in a 1∶2 fashion to 50 non-failure patients (post-operative non-failure group), who showed intact ACL graft 2 years after ACL reconstruction. The sex, age, body mass index (BMI), affected side, meniscal injury side, time from injury to surgery, KT-1000 SSD, pivot shift test under anesthesia, follow-up duration, posterior tibial slope (PTS) and ATT measured on the pre-operative weight-bearing whole leg radiographs between the two groups were compared using univariate analysis. Moreover, the predictors of ACL reconstruction failure were assessed by multivariable conditional Logistic regression analysis.Results:Post-operative failure group had a significantly higher PTS and ATT values than those in the post-operative non-failure group (17.21°±2.20° vs 14.36°±2.72°, t=4.395, P<0.001; 8.29±3.42 mm vs 4.09±3.06 mm, t=5.504, P<0.001). The sex, age, BMI, affected side, meniscal injury side, time from injury to surgery, KT-1000 SSD, pivot shift test under anesthesia, follow-up duration between the two groups showed no significant difference ( P>0.05). Multivariable Logistic regressions indicated that PTS≥17° ( OR=15.62, P=0.002) and ATT≥6 mm ( OR=9.91, P=0.006) were independent risk factors for primary ACL reconstruction failure. However, sex, age, BMI, meniscal lesions, degree of pivot shift test, KT-1000 SSD were not the independent risk factors. Conclusion:PTS≥17° and ATT≥6 mm could increase the risk of primary ACL reconstruction failure.

Objective:To study the mRNA expressions of bone morphogenetic protein 2 ( BMP2) in different types of gliomas and the relation between BMP2 mRNA expression and survival time, and to explore the role of BMP2 mRNA expression in prognosis evaluation in gliomas. Methods:The clinical data of 692 patients with gliomas in China Glioma Genome Atlas (CGGA) database were collected. Differences of BMP2 mRNA expression were compared among glioma patients with different histophiologic types, and patients with different gender and different ages, patients at primary or recurrent status, and those with different WHO grading, isocitrate dehydrogenase 1 (IDH1) mutation, 1P19q heterozygous deletion status, and molecular typing. The difference in survival time between patients with high and low BMP2 mRNA expression levels were compared in different categories of gliomas. Results:(1) The BMP2 mRNA expressions were different in different histopathological types of gliomas ( F=9.392, P=0.000); BMP2 expression in the oligodendroglioma subtype was the highest, followed by astrocytoma subtype and glioblastoma. The BMP2 relative mRNA expressions in male and female patients were 9.78±0.65 and 11.26±0.86, respectively, without statistical difference ( P>0.05). The BMP2 relative mRNA expressions in patients <43 years old and patients≥43 years old were 12.51±0.81 and 8.37±0.65, respectively, with significant difference ( P<0.05). The BMP2 relative mRNA expressions were 10.09±0.62 and 10.90±0.93, respectively, without significant difference ( P>0.05). The BMP2 relative mRNA expressions were 13.98±1.12, 12.88±0.88 and 5.18±0.64 in WHO grading II, III, and IV gliomas patients, respectively, with significant differences ( F=30.912, P=0.000). The BMP2 relative mRNA expressions in patients with IDH1 wild-type and IDH1 mutant were 2.73±0.16 and 17.47±0.85, respectively, with significant difference ( P<0.05). The BMP2 relative mRNA expressions in patients with 1P/19Q non-absence and 1P/19Q absence were 7.02±0.36 and 25.28±1.66, respectively, with significant difference ( P<0.05). In patients with lower graded glioma and glioblastoma, the BMP2 mRNA expressions in these patients with IDH mutation were significantly higher than those in patients with IDH wild-type ( P<0.05). (2) In patients with primary glioma and patients with recurrent glioma, the survival time of these patients with high BMP2 mRNA expression (≥4.68) was significantly longer than that of patients with low expression (<4.68, χ2=62.975, P=0.000; χ2=12.810, P=0.000). Conclusion:The BMP2 mRNA expression can be used as an index to predict the malignant degrees of gliomas; patients with high expression have longer survival time than those with low expression.

Objective:To analyze the expression of ATP binding cassette subfamily C member 8 (ABCC8) in different types of gliomas and its relation with overall survival of glioma patients.Methods:The ABCC8 mRNA data and clinical data (gender, age, histopathology, WHO grading, isocitrate dehydrogenase [ IDH] mutation status, 1p/19q deletion status and molecular types), and overall survival of 516 glioma patients from the Cancer Genome Atlas were collected, and the differences of ABCC8 mRNA expression in different types of glioma patients were compared. The differences of overall survival were compared between high (≥54.50) and low (<54.50) ABCC8 mRNA expression patients in different types of glioma patients. Results:(1) ABCC8 mRNA expression in primary glioma patients was significantly higher than that in recurrent glioma patients ( P<0.05). ABCC8 mRNA expression was the highest in oligodendroglioma patients, followed by astrocytoma patients; and glioblastoma patients had the lowest ABCC8 mRNA expression; the differences among glioma patients from subgroups of different histopathological types were statistically significant ( P<0.05). ABCC8 mRNA expression was the highest in patients with grade II glioma, followed by those with grade III ( P<0.05); and patients with grade IV had the lowest ABCC8 mRNA expression ( P<0.05); the differences among patients from subgroups of different WHO grading were statistically significant ( P<0.05). ABCC8 mRNA expression in glioma patients with IDH mutant was significantly higher than that in glioma patients with IDH wild-type ( P<0.05); and ABCC8 mRNA expression in patients with 1P/19Q deletion glioma was significantly higher than that in patients with 1P/19Q deletion ( P<0.05). ABCC8 mRNA expression in low-grade glioma patients and glioblastoma multiforme patients with IDH mutation was significantly higher than that in patients with IDH wild-type ( P<0.05). (2) In all patients with glioma, primary and recurrent glioma, oligodendroglioma, neuroastrocytoma, WHO low-grading (grade II) and WHO high-grading (grade III or IV) glioma, IDH mutation and IDH wild-type gliomas, and 1p/19q deletion and no deletion gliomas, patients with high ABCC8 mRNA expression had significantly higher overall survival time that those with low ABCC8 mRNA expression ( P<0.05). (3) Multivariate Cox analysis showed that ABCC8 mRNA expression was an independent factor for overall survival of patients with gliomas ( HR=0.747, P=0.025, 95%CI:0.579-0.963). Conclusion:The ABCC8 mRNA expression in glioma patients is related to the malignant degrees of gliomas, which can be used as an indicator to predict the prognoses of gliomas.

Objective:Aldo-keto reductase family 1 member B10 (AKR1B10) pathogenesis, early diagnosis and prognosis are closely related with hepatoma. Therefore, this study explores the effect and mechanism of AKR1B10 on cell cycle in hepatoma cells.Methods:HepG2 cells were infected with lentivirus LV-AKR1B10-shRNA or treated with epalrestat, an AKR1B10 inhibitor. The expression level of AKR1B10 was detected by Western blot assay and real-time fluorescence quantitative PCR (RT-qPCR). Decreased AKR1B10 activity was detected by reduced coenzyme II (NADPH) absorbance at 340 nm. The low expression of AKR1B10 and the effect of different concentrations of epalrestat on cell proliferation and cell cycle were detected by CCK-8 method and flow cytometry. The protein expression levels of p-rb, cyclin D1, E1, p27 in HepG2 cells were detected by Western blot. The mean of the two samples was tested using independent sample t-test.Results:AKR1B10 expression level in hepatoma cells was significantly increased compared to normal liver cells, and the relative expression level of AKR1B10 protein in HepG2 cells was 6.71 ± 1.11 ( P = 0.012). Epalrestat was significantly inhibited with the enzymatic activity of AKR1B10 in a dose-dependent manner. AKR1B10 gene in HepG2 cells was effectively silenced. HepG2 cells treated with different concentrations of epalrestat (AKR1B10 inhibitor) for 24, 48 and 72 h had inhibited cell proliferation, promoted G0/G1 cell cycle arrest, reduced the expression of p-Rb, cyclin D1, and cyclin E1 and increased the expression of cyclin dependent kinase inhibitor p27 expression. Conclusion:AKR1B10 inhibitory expression and activity can promote G0/G1 cell cycle arrest in HepG2 cells through the p27 / p-Rb pathway.