[Clinical and genetic characteristics of osteopetrosis in children].

Objectives: To study the clinical and genetic characteristics of osteopetrosis (OPT) in children.

Methods: A retrospective analysis was performed on the clinical data of 14 children with OPT. Whole-exome sequencing was used to detect pathogenic genes, and clinical phenotypes and genotypic features were summarized.

A semi-supervised convolutional neural network for diagnosis of pancreatic ductal adenocarcinoma based on EUS-FNA cytological images.

Background: The cytological diagnostic process of EUS-FNA smears is time-consuming and manpower-intensive, and the conclusion could be subjective and controversial. Moreover, the relative lack of cytopathologists has limited the widespread implementation of Rapid on-site evaluation (ROSE) presently. Therefore, this study aimed to establish an AI system for the detection of pancreatic ductal adenocarcinoma (PDAC) based on EUS-FNA cytological images.

[Molecular Pathogenic Mechanism Study of Two Cases of Inherited Dysfibrinogenemia].

Objective: To analyze two families with inherited dysfibrinogenemia, and explore the molecular pathogenic mechanisms.

Methods: The coagulation indexes of the probands and their family members were detected. The , and exons and their flanking sequences were amplified by PCR, and the mutation sites were identified by sequencing.

[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children].

Objectives: To investigate the clinical phenotypes and genotypes of children with congenital fibrinogen disorder (CFD).

Methods: A retrospective analysis was conducted on the clinical data of 16 children with CFD. Polymerase chain reaction was used to amplify all exons and flanking sequences of the , , and genes, and sequencing was performed to analyze mutation characteristics.

Overexpression of the SMYD3 Promotes Proliferation, Migration, and Invasion of Pancreatic Cancer.

Background: The Suvar, Enhancer of zeste, and Trithorax (SET), myeloid-Nervy-DEAF-1 (MYND) domain-containing protein 3 (SMYD3), was reported to be upregulated in various tumors. However, its role in pancreatic cancer progression remains unclear.

Aims: To explore the role of SMYD3 in the pancreatic cancer.

Circulating microRNA-21 as a prognostic, biological marker in cholangiocarcinoma.

Aims: The prognosis of cholangiocarcinoma (CCA) is generally poor because there is a lack of effective diagnostic tools including laboratory assessments and imageological examination. Therefore, a novel biological marker (biomarker) to effectively diagnose cancer is highly desirable in clinical. Previously, serum microRNAs as biomarkers of cancers have been reported.

miR-21 and KLF4 jointly augment epithelial‑mesenchymal transition via the Akt/ERK1/2 pathway.

miR-21 induces epithelial-mesenchymal transition (EMT) of human cholangiocarcinoma (CCA) cells. However, the mechanism by which this occurs remains unclear. In the present study, high throughput platform was employed to detect the genes that are differential expressed in QBC939 cells transfected with a hsa-miR-21 antagomir or control vectors.

Analysis of diagnosis and treatment for pancreatic neuroendocrine neoplasms: results of 47 cases in a single institution.

Background/aims: There are few large sample, single-center series that focus on the methods of diagnosis, treatment and long-term survival of patients with Pancreatic neuroendocrine neoplasms (pNENs).

Methodology: Forty-seven patients with pNENs treated at Anhui province hospital affliated of Anhui Medical University during January 2002 to December 2013 were analyzed retrospectively. Clinical data were collected and statistically analyzed.

Fragile histidine triad (FHIT) suppresses proliferation and promotes apoptosis in cholangiocarcinoma cells by blocking PI3K-Akt pathway.

Fragile histidine triad (FHIT) is a tumor suppressor protein that regulates cancer cell proliferation and apoptosis. However, its exact mechanism of action is poorly understood. Phosphatidylinositol 3-OH kinase (PI3K)-Akt-survivin is an important signaling pathway that was regulated by FHIT in lung cancer cells.

The choice of surgical timing for biliary duct reconstruction after obstructive bile duct injury: an experimental study.

Background/aims: The surgical time of obstructive bile duct injury when biliary-enteric reconstruction is needed remains controversial till now.

Methodology: Sixty dogs models of bile duct injury were established and divided into six groups according to the days (0, 5, 10, 15, 20, 30 days) of injury. At the time of surgery, biopsy was taken and Roux-en-Y hepaticojejunostomy was performed.

Prognostic value of HIF-1α expression in patients with gastric cancer.

The role of hypoxia-inducible factors-1 alpha (HIF-1α) expression in gastric cancer remains controversial. We performed a systematic review of the literature with meta-analysis. Electronic databases were used to identify published studies before December 1, 2012.

[Molecular mechanism of γ-aminobutyric acid inhibitory on the growth of cholangiocarcinoma QBC939 cell line].

Objective: To explore the molecular mechanism of γ-aminobutyric acid (GABA) inhibitory on the growth of cholangiocarcinoma cell line (QBC939).

Methods: QBC939 cells were cultured in different groups and treated with GABA, GABA + bicuculine (A receptor antagonist), GABA + phaclofen (B receptor antagonist) for 48 hours. MTT assay was used to determine the proliferation of QBC939 cells.

NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T gene polymorphism association with digestive tract cancer: a meta-analysis.

NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T gene polymorphisms have been reported to influence the risk for digestive tract cancer (DTC) in many studies; however, the results remain controversial and ambiguous. We therefore carried out a meta-analysis of published case-control studies to derive a more precise estimation of any associations. Electronic searches were conducted on links between this variant and DTC in several databases through April 2012.

Gamma-aminobutyric acid binds to GABAb receptor to inhibit cholangiocarcinoma cells growth via the JAK/STAT3 pathway.

Background: Gamma-aminobutyric acid (GABA) has been reported to inhibit the growth of cholangiocarcinoma QBC939 cells, but the mechanisms are still not fully understood.

Aims: To explore the mechanisms of the anti-cancer effect of GABA on QBC939 cells.

Methods: An initial immunohistochemistry study of the expressions of GABA receptors in cholangiocarcinoma tissues was followed by the culture and treatment of QBC939 cells for 48 h with GABA, GABA + bicuculine (GABAA receptor antagonist), GABA + phaclofen (GABAB receptor antagonist), and GABA + AG490 (Janus Kinase inhibitor).

Polymorphisms in the cytotoxic T-lymphocyte antigen 4 gene and acute rejection risk in transplant recipients.

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphisms have been reported to influence the risk for acute rejection (AR) in transplant recipients. However, the results still remain controversial and ambiguous. The objective of the current study was to conduct a meta-analysis investigating the association between polymorphisms in the CTLA-4 gene and the risk of AR in transplant recipients.