[Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy].

OBJECTIVE: To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening. METHODS: 7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up. RESULTS: Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations. CONCLUSION: Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.

Phycocyanin Protects against High Glucose High Fat Diet Induced Diabetes in Mice and Participates in AKT and AMPK Signaling.

Phycocyanin is a type of marine natural product and functional food additive. Studies have demonstrated that phycocyanin has potential regulatory effects on glycometabolism, while its function and mechanism, especially in type 2 diabetes mellitus (T2DM), is still unclear. The aim of this study was to investigate the antidiabetic roles and underlying mechanism of phycocyanin in a high glucose high fat diet induced model of T2MD in C57BL/6N mice and a high-insulin-induced insulin-resistant model of SMMC-7721 cells. The results indicated that phycocyanin reduced high glucose high fat diet induced hyperglycemia as well as ameliorated glucose tolerance and histological changes in the liver and pancreas. Meanwhile, phycocyanin also significantly decreased the diabetes-induced abnormal serum biomarker variations, including triglyceride (TG), total cholesterol (TC), aspartate transaminase (AST), and glutamic-pyruvic transaminase (ALT), and increased the superoxide dismutase (SOD) content. Furthermore, the antidiabetic function of phycocyanin was exerted through activating the AKT and AMPK signaling pathway in the mouse liver, which was also verified in the insulin-resistant SMMC-7721 cells due to increased glucose uptake and activated AKT and AMPKα expression. Thus, the present study is the first to indicate that phycocyanin mediates antidiabetic function via activating the AKT and AMPK pathway in high glucose high fat diet induced T2DM mice and insulin-resistant SMMC-7721 cells, which lays a scientific theoretical basis for the potential treatment of diabetes and the utilization of marine natural products.

Abdominal hemorrhage after peritoneal dialysis catheter insertion: A rare cause of luteal rupture: A case report.

BACKGROUND: Abdominal hemorrhage is a complication of peritoneal dialysis catheter (PDC) insertion that cannot be neglected, and its causes are mainly related to surgical injury. This article reports a case of massive abdominal hemorrhage that was caused by a rare rupture of corpus luteum shortly after PDC during the initiation of peritoneal dialysis (PD) insertion. CASE SUMMARY: A 37-year-old woman was surgically placed a Tenckhoff catheter because of end-stage renal disease. On the third postoperative day, the color of the abdominal drainage fluid was pink, and deepened gradually. It turned pale after initiating conservative treatment. On the tenth postoperative day, the color of the abdominal drainage fluid suddenly turned dark red, and the color progressively deepened. The patient's hemoglobin dropped from 88 g/L to 57 g/L. Abdominal computed tomography (CT) indicated abdominal effusion and a high-density shadow in the abdominal cavity. The surgeon performed a laparotomy and found that the corpus luteum had ruptured on the right side and a left ovarian blood body had formed. The gynecologist repaired the ovary and performed a bilateral oophoroplasty. After the operation, the patient stopped bleeding and hemodialysis was temporarily stopped. PD was resumed after half a month. The patient's condition improved, and she was discharged 14 d after the laparotomy. CONCLUSION: If abdominal hemorrhage occurs in women of childbearing age after PDC insertion, luteal rupture should be considered as the cause.

Insulin Receptor Substrate 1 Is Involved in the Phycocyanin-Mediated Antineoplastic Function of Non-Small Cell Lung Cancer Cells.

Phycocyanin, derived from marine algae, is known to have noteworthy antineoplastic properties. However, the underlying mechanism involved in phycocyanin-mediated anti-growth function on non-small cell lung cancer (NSCLC) cells is still ambiguous. Here, we investigated the mechanism of action of phycocyanin on H1299, A549, and LTEP-a2 cells. According to the results obtained, insulin receptor substrate 1 (IRS-1) expression was reduced by phycocyanin. Cell phenotype tests showed that siRNA knockdown of IRS-1 expression significantly inhibited the growth, migration, colony formation, but promoted the apoptosis of NSCLC cells. Meanwhile, phycocyanin and IRS-1 siRNA treatment both reduced the PI3K-AKT activities in NSCLC cells. Moreover, overexpression of IRS-1 accelerated the proliferation, colony formation, and migration rate of H1299, A549, and LTEP-a2 cells, which was contradicting to the knockdown results. Overall, this study uncovered a regulatory mechanism by which phycocyanin inhibited the growth of NSCLC cells via IRS-1/AKT pathway, laying the foundation for the potential target treatment of NSCLC.

Afterload-related reference values for myocardial work indices.

BACKGROUND: The novel noninvasive pressure-strain loop (PSL) is a reliable tool that reflects myocardial work (MW). Systolic blood pressure (SBP) is the only independent factor for MW indices. However, afterload-related reference values have not been previously reported. The aim of the present study was to establish reference values for MW parameters by wide range SBP grading. METHODS: We prospectively selected healthy individuals and subjects with SBP ≥ 140 mmHg at the time of study without myocardial remodeling. MW parameters were collected and the reference values achieved were grouped by SBP in 10-mmHg. RESULTS: Significant differences were noted among the SBP-groups for global work index (GWI) and global constructive work (GCW). The majority of statistical comparisons of the differences in GWI and GCW were significant at each SBP-group. With SBP ranging from 90 to 189 mmHg, the parameters GWI and GCW tended to increase linearly with afterload. Overall, the global wasted work (GWW) tended to rise as SBP was increased, but not all of the differences noted in GWW were significant for each SBP-group. Global work efficiency (GWE) remained stable across all SBP-groups, with the exception of a slight drop noted when it exceeded 160 mmHg. CONCLUSIONS: The amount of MW but not the work efficiency varied greatly according to the different afterload. This finding cannot be ignored during clinical research or diagnosis and afterload-related reference values are required to make a reasonable judgment on the myocardial function.

Treatment of Left Ventricular Circulation Disorder: Application of Echocardiography Information Data Monitoring.

BACKGROUND: Cardiac hypertrophy induced by pressure overload is one of the important causes of heart failure and sudden cardiac death. At present, there are few studies on the outcome of left ventricular hypertrophy and left ventricular function after complete pressure load removal. OBJECTIVE: This study aims to better simulate the changes of left ventricular structure and function during the process of left ventricular pressure overload and deloading, and to explore the application of echocardiography in it. METHODS: In this study, healthy male (BALB/C) mice were used as research objects to establish an ascending aorta constriction model, to carry out echocardiographic and hemodynamic examinations, to establish an ascending aorta deconstriction model in mice, and to carry out echocardiographic and hemodynamic examinations. RESULTS: Compared with the sham operation group, the left ventricular end-systolic diameter (LVESD), left ventricular end-diastolic diameter (LVEDD), interventricular septal (IVS), and left ventricular posterior wall (LVPW) in the constriction operation group were significantly increased (P=.02, P=.02, P=.02, and P=.02, respectively). LVESD, LVEDD, IVS, and LVPW in the early and late constriction groups were significantly decreased, and the degree of decrease in the early group was greater than that in the late group; compared with the sham operation group, left ventricular diastolic pressure in the constriction operation group increased significantly at 9 and 15 weeks after operation (P=.03). Left ventricular systolic pressure at 15 weeks after operation decreased to a certain extent but was higher than that of the sham operation group (P=.02). The maximal rate of the increase of left ventricular pressure at 3 weeks, 9 weeks, and 15 weeks after operation decreased significantly (P=.03, P=.02, and P=.02, respectively). CONCLUSIONS: In this study, the ascending aorta coarctation model and descending aorta coarctation model were successfully established, which verifies the value of echocardiography information data monitoring in the treatment of left ventricular circulation disorders and the evaluation of surgical treatment.

Does pre-scanning training improve the image quality of children receiving magnetic resonance imaging?: A meta-analysis of current studies.

BACKGROUND: Magnetic resonance imaging (MRI) is often used in children for its clear display of body parts. But it is usually hard to acquire high-quality images, for the uncooperative ability of children. It is believed that pre-MRI training could ensure the high quality of images. The current meta-analysis was done to analyze the current evidences in this field. METHODS: PubMed, Cochrane Library, and Web of Science were systematically searched up to July 2018, for studies assessing the effects of training on pediatric MRI. Data, including image quality, failed scanning rate, and sedation use, were extracted and analyzed using Revman 5.2 software. RESULTS: There were 5 studies with 379 subjects in the meta-analysis. Training and control groups were quite comparable when accepted image quality was reviewed (P = .30), but a lower rate of excellent image quality was found in subjects with training (P = .02). The pooling results found no significance between training and control group in sedation use (P = .09) and successful MRI scanning (P = .63). CONCLUSIONS: It is cautious to conclude that pre-MRI training does not improve the image quality and reduce sedation use among children, for the limited number of studies and sample size. More trials should be encouraged to demonstrate this issue.

Correlation of CT signs with lymphatic metastasis and pathology of neuroblastoma in children.

Correlation between computed tomography (CT) signs, lymphatic metastasis and pathological features of neuroblastoma (NB) in children was investigated. A total of 374 child patients diagnosed with NB via CT scan and pathological section in Department of Pediatric of Xuzhou Children's Hospital from March 2011 to January 2017 were collected, and their clinical data were retrospectively analyzed. According to CT signs, NB calcification and invasion to surrounding tissues were evaluated, and the tumor site, tumor size, lymphatic metastasis, pathological types and clinical prognosis were analyzed. In plain CT scan, 160 cases showed clear tumor mass, and 214 cases showed blurred mass; 78 cases of tumors were uniform in density, and 296 cases were not uniform in density. Besides, there were 351 cases of calcification in mass. There were 106 cases of axial rotation of kidney, 53 cases of enlargement of renal calyce and renal pelvis, 66 cases of elevation of liver position, 71 cases of pancreas translocation, 26 cases of gastrointestinal tract translocation, 17 cases of vascular translocation and 12 cases of bladder translocation, besides 23 of the cases showed no significantly abnormal changes. Moreover, 211 cases had retroperitoneal lymphatic metastasis with soft tissue swelling in phrenic angle, abdominal aorta and renal hilum in image, and non-uniform annular enhancement or uniform enhancement in enhanced scanning. NB in right adrenal gland invaded the liver in 53 cases, invaded the kidney in 26 cases, invaded the psoas in 40 cases and blood vessels in 32 cases, and the remaining cases showed no invasion. A total of 68 cases were accompanied by pleural thickening, 34 cases by pleural effusion, 36 cases by tracheal compression, 38 cases by rib compression, and 40 cases by tumor invading into vertebral canal. Bone metastasis occurred in 182 cases; liver metastases occurred in 28 cases, and brain metastases in 35 cases. NB calcification was significantly correlated with pathological type, tumor site and lymphatic metastasis (p<0.05), but not correlated with tumor size (p>0.05); NB invasion to surrounding tissues was associated with pathological type, tumor site and clinical prognosis (p<0.05), but was not correlated with the tumor size (p>0.05). We concluded that patients with distal mediastinal mass identified by CT examination, accompanied by calcification, and invasion to surrounding tissues may suffer from NB. Tumor growth is closely correlated with tumor differentiation degree.

Magnetic resonance imaging in pediatric sickle cell anemia.

Sickle cell disease is the result of altered genetic make up due to hereditary encounter and its form as homozygous sickle cell anemia is the most common and severe. The disease is characterized by chronic anemia, recurrent pain crises and vascular occlusion. Neurologically, there is a high incidence of stroke in childhood, as well as cognitive dysfunction. Newborn screening programmes and preventative treatments have allowed a much longer lifespan. However, recently, neurological research has shifted to characterizing more subtle aspects of brain development and functioning that may be critically important to the individual's quality of life. The present review article examines the neurological and neurocognitive complications of sickle cell disease, and discusses the importance of magnetic resonance imaging scans in the management of the disease.

[Predictive value of HLA-DRB1 gene for the treatment of unexplained recurrent spontaneous abortion with paternal lymphocyte alloimmunization therapy in Henan Hans].

OBJECTIVE: To explore the value of HLA-DRB1 gene in predicting the outcome of unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) in Henan Hans. METHODS: Three hundred URSA patients were recruited. Following PLAT treatment, they were divided into two groups according to the outcome of pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) were conducted to analyze the HLA-DRB1 gene. RESULTS: For those who have received PLAT treatment, the frequency of HLA-DRB1*11 was significantly lower in successfully treated cases than those with abortion (0.052 vs. 0.110, P < 0.05, OR=0448), whilst the frequency of HLA-DRB1*15 was significantly greater in the former (0.207 vs. 0.100, P < 0.05, OR=2.352). CONCLUSION: For patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.

[Analysis of CYP17A1 gene mutation in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency].

OBJECTIVE: To analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD. METHODS: Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient. RESULTS: The patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987C>A and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417. CONCLUSION: A compound mutation, c.987C>A and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.