GCKR and ADIPOQ gene polymorphisms in women with gestational diabetes mellitus.

AIMS: To investigate the associations of GCKR and ADIPOQ variants with the risk of gestational diabetes mellitus (GDM) in Chinese women. METHODS: GCKR rs1260326, ADIPOQ rs266729, and rs1501299 were selected and genotyped in 519 GDM patients and 498 controls. Candidate SNPs were genotyped using multiplex polymerase chain reaction (PCR) combined with next-generation sequencing methods, and the association of these SNPs with GDM was analyzed. RESULTS: We found that GCKR rs1260326 was significantly associated with an increased risk of GDM in the allele model, the codominant model (CC vs. TT), the dominant model, the recessive model, and the genotypic model distributions (p = 0.0029, p = 0.0022, p = 0.0402, p = 0.0038, and p = 0.0028, respectively). The rs1260326 polymorphism was shown to be associated with 1 h-OGTT level and gravidity in GDM patients (CC vs. TT: p = 0.0475 and p = 0.0220, respectively). Diastolic blood pressure (DBP) was significantly higher in the GDM patients with the rs266729 GG genotype compared to those with the CC or CG genotype (p = 0.0444 and p = 0.0339, respectively). The DBP of the GDM patients with the rs1501299 GT genotype was lower than that of those with the GG genotype (p = 0.0197). There was a weak linkage disequilibrium value between the GCKR and ADIPOQ SNPs. CONCLUSIONS: The genes GCKR and ADIPOQ may be involved in the pathophysiology of GDM.

Effects of lauromacrogol injection under contrast-enhanced ultrasound guidance on cesarean scar pregnancy: a prospective cohort study.

Background: Compared with the current commonly used pretreatment approaches, the therapeutic effect of contrast-enhanced ultrasound-guided sclerotherapy with lauromacrogol injection (CEUSL) on cesarean scar pregnancy (CSP) is not clear. This study aimed to investigate the clinical efficacy and safety of CEUSL compared with gelatin sponge uterine artery embolization (UAE) and UAE combined with methotrexate (UAEM) in the pretreatment of CSP to prevent massive bleeding during subsequent curettage. Methods: Sixty-four patients were divided into the CEUSL (n=20), UAE (n=22), and UAEM (n=22) groups. All patients with CSP underwent curettage and hysteroscopy after CEUSL, UAE, or UAEM pretreatment. The efficacy and safety indicators after pretreatment were analyzed. Results: Time for pretreatment [95% confidence interval (CI): 31.92-39.28] and hospitalization cost (95% CI: 7,852.32-9,063.23) were significantly decreased in the CEUSL group compared with that in the UAE (95% CI: 53.55-59.99% and 95% CI: 12,901.42-15,166.63, respectively) and the UAEM group (95% CI: 52.90-58.83 and 95% CI: 11,324.66-13,302.69, respectively; P<0.001). The beta human chorionic gonadotropin (ß-hCG) percentage decrease 24 hours later and the hospital stay were significantly decreased in the CEUSL group (95% CI: 0.65-0.70 and 95% CI: 3.32-4.58 days, respectively) compared with those in the UAE (95% CI: 0.67-0.74 and 95% CI: 4.06-5.84, respectively) or UAEM (95% CI: 0.62-0.68 and 95% CI: 4.12-5.88, respectively) groups (P<0.05). After pretreatment, there were significantly fewer patients (P<0.05) with fever (95% CI: -0.52 to -0.093), pelvic pain (95% CI: -0.427 to -0.018), increased white blood cell count (95% CI: -0.359 to 0.040), and hypersensitive C-reactive protein (hs-CRP) elevation (95% CI: -0.572 to -0.118) in the CEUSL group than in the UAE or UAEM groups. At follow-up, all patients resumed normal menstruation, with no residual gestational sac on ultrasound imaging or sequel. Conclusions: The pretreatment procedures were all technically successful, with good outcomes in different pretreatment procedures. Compared with UAE with or without methotrexate, CEUSL may be as effective and safe for pretreatment of CSP, with fewer adverse effects and shorter pretreatment time and hospital stay.

Nomogram based on the O-RADS for predicting the malignancy risk of adnexal masses with complex ultrasound morphology.

OBJECTIVE: The accurate preoperative differentiation of benign and malignant adnexal masses, especially those with complex ultrasound morphology, remains a great challenge for junior sonographers. The purpose of this study was to develop and validate a nomogram based on the Ovarian-Adnexal Reporting and Data System (O-RADS) for predicting the malignancy risk of adnexal masses with complex ultrasound morphology. METHODS: A total of 243 patients with data on adnexal masses with complex ultrasound morphology from January 2019 to December 2020 were selected to establish the training cohort, while 106 patients with data from January 2021 to December 2021 served as the validation cohort. Univariate and multivariate analyses were used to determine independent risk factors for malignant tumors in the training cohort. Subsequently, a predictive nomogram model was developed and validated in the validation cohort. The calibration, discrimination, and clinical net benefit of the nomogram model were assessed separately by calibration curves, receiver operating characteristic (ROC) curves, and decision curve analysis (DCA). Finally, we compared this model to the O-RADS. RESULTS: The O-RADS category, an elevated CA125 level, acoustic shadowing and a papillary projection with color Doppler flow were the independent predictors and were incorporated into the nomogram model. The area under the ROC curve (AUC) of the nomogram model was 0.958 (95% CI, 0.932-0.984) in the training cohort. The specificity and sensitivity were 0.939 and 0.893, respectively. This nomogram also showed good discrimination in the validation cohort (AUC = 0.940, 95% CI, 0.899-0.981), with a sensitivity of 0.915 and specificity of 0.797. In addition, the nomogram model showed good calibration efficiency in both the training and validation cohorts. DCA indicated that the nomogram was clinically useful. Furthermore, the nomogram model had higher AUC and net benefit than the O-RADS. CONCLUSION: The nomogram based on the O-RADS showed a good predictive ability for the malignancy risk of adnexal masses with complex ultrasound morphology and could provide help for junior sonographers.

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.

BACKGROUND: Meckel syndrome (MKS) is a fatal disease characterized by multisystem fibrosis during the prenatal or perinatal period. It has an autosomal recessive genetic pattern and is characterized by meningo occipital encephalocele, polycystic kidney dysplasia, polydactyly, and hepatobiliary ductal plate malformation. Germline variations in CEP290 have been shown to cause MKS4. METHODS: In this study, a 23-year-old Chinese woman who was 18 weeks pregnant was examined. The pregnancy was terminated due to occipital meningocele and enlarged cystic dysplastic kidney revealed by ultrasonography. In addition, the patient had a history of adverse pregnancy whereby the fetus presented with double kidney enlargement. Karyotype analysis and chromosomal microarray examination (CMA) were carried out using amniotic fluid samples. Whole exome sequencing (WES) was performed using tissue specimens of the aborted fetus. RESULTS: Karyotype and CMA analyses showed normal results. However, compound heterozygous mutations of CEP290 c.3175dup and CEP290 c.1201dup were detected through WES. CEP290 c.1201dup is a novel heterozygous mutation of CEP290 that has not been reported previously. CONCLUSIONS: The findings of this study provide information on the correlation between MKS phenotype and genotype in CEP290. In addition, these findings indicate that WES is an effective method for detecting genetic causes of multiple structural defects especially those showing normal karyotype and CMA results.

The Performance of Transvaginal Two-Dimensional Fundamental Sonosalpingography Combined with Saline Infusion Pelvic Sonosalpingography for Assessing Fimbrial Part's Morphology and Function of the Fallopian Tubes.

OBJECTIVES: The purpose of this study was to evaluate the diagnostic efficacy of transvaginal two-dimensional fundamental sonosalpingography (2D-FS) combined with saline infusion pelvic sonosalpingography (SIPS) for assessing fimbrial part's morphology and function of the fallopian tubes. METHODS: One hundred and sixty-nine cases underwent 2D-FS combined with SIPS. Among them, 18 cases received laparoscopy and dye test (LDT) within 3 months after the examination and the results were regarded as reference standard. RESULTS: Excluding proximal or middle segment obstructed tubes, the remaining fimbrial parts' display rate by using 2D-FS combined with SIPS was 75.1%. According to the ultrasonic appearance, the fimbrial parts were classified into 4 types: normal, abnormal, suspected abnormal, and unclassifiable. Normal fimbrial parts accounted for 73.8% when the tubes were patent; abnormal fimbrial parts accounted for 74.1% when the tubes were partial obstructed; all became abnormal when the tubes were distal complete obstructed. The fimbrial parts which had been classified by 2D-FS combined with SIPS were compared with LDT further. This combination's accuracy (ACC), sensitivity (SEN), specificity (SPE), positive predictive value (PPV), negative predictive value (NPV), and Youden's index (YI) were 86.4, 87.5, 85.7, 77.8, 92.3, and 0.73%, respectively. The result of consistency analysis showed the combination was essentially consistent with LDT result (Kappa = 0.713). CONCLUSION: 2D-FS combined with SIPS can be a preferred method for assessment of the fimbrial part's morphology and function, with its advantages of non-invasive, intuition, and accuracy. This combination could provide an objective imaging basis for choosing clinical treatment strategies and predicting prognosis.

Role of laparoscopy as a minimally invasive procedure in treatment of ruptured uterine scar during second-trimester induction of abortion.

Uterine rupture is an uncommon complication following termination of pregnancy and is usually accompanied by severe lower abdominal pain and shock caused by intra-abdominal hemorrhage. Laparotomy should be carried out promptly in order to repair the uterus or even to resect the uterus. Here we present a case of uterine rupture of a scarred uterus, which occurred during a second-trimester induced abortion. The patient was successfully treated by laparoscopy with the help of laparoscopic ultrasound. This case suggests an alternative, effective approach to the diagnosis and treatment of uterine rupture.

Silencing of periostin inhibits nicotine-mediated tumor cell growth and epithelial-mesenchymal transition in lung cancer cells.

Nicotine has been found to induce the proliferation of lung cancer cells through tumor invasion and to confer resistance to apoptosis. Periostin is abnormally highly expressed in lung cancer and is correlated with angiogenesis, invasion and metastasis. Here, we investigated the roles of periostin in the lung cancer cell proliferation, drug resistance, invasion and epithelial-mesenchymal transition (EMT) induced by nicotine. The periostin gene was silenced using small interfering RNA (siRNA) in A549 non-small cell lung cancer (NSCLC) cells. The cells were transfected with control or periostin siRNA plasmids. Periostin mRNA was evaluated by quantitative reverse transcription-polymerase chain reaction (RT-PCR). Cell proliferation was detected using the MTT assay and cell apoptosis was detected by Annexin V-FITC and propidium iodide (PI) double staining. Tumor invasion was detected by the Boyden chamber invasion assay. Western blotting was performed to detect the expression of the EMT marker Snail. Our results revealed that stably periostin-silenced cells were acquired by G418 screening, and the periostin mRNA expression levels of which were decreased by nearly 80%. Periostin-silenced A549 cells exhibited reduced cell proliferation, elevated sensitivity to chemotherapy with cisplatin, decreased cell invasion and Snail expression (P<0.05). Nicotine upregulated the periostin protein levels in the A549 cells and this upregulation was not blocked by the generalized nicotinic acetylcholine receptor (nAChR) antagonist, hexamethonium. In conclusion, periostin is one of the targets regulated by nicotine in lung cancer cells and is involved in the cancer cell growth, drug resistance, invasion and EMT induced by nicotine.