With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. All kinds of disease causing mutations can be detected at the same time in patients with Mendelian diseases or carriers. First, we evaluated this technology using YH cell line DNA and 9 samples with known mutations. Accuracy and stability of 99.80% and 99.58% were achieved respectively. Then, a total of 303 patients were tested using our targeted NGS approaches, 50.17% of which were found to have deleterious mutations and molecular confirmation of the clinical diagnosis. We identified 219 disease causing mutations, 43.84% (96/219) of which has never been reported before. Additionally, we developed a new deleteriousness prediction method for nonsynonymous SNVs, and an automating annotation and diagnosis system for Mendelian diseases, thus greatly assisting and enhancing Mendelian diseases diagnosis and helping to make a precise diagnosis for patients with Mendelian diseases.

Background With the development and application of endoscopic technology, most pedunculated polyps can be absolutely resected with a complete specimen by hot snare polypectomy (HSP). Brunner’s gland hamartoma (BGH) is a rare benign small bowel tumor. The majority of BGH measuring about 2 cm in diameter, rarely larger than 5 cm. Most patients are asymptomatic, some may present with gastrointestinal hemorrhage or intestinal obstruction. Symptomatic larger lesions leading to bleeding or obstruction should be excised either endoscopically or surgically. Whether it is safe and effective that removing a BGH measuring about 7 cm by HSP is not known. Case presentation Here, we reported a rare case of a proximal duodenum pedunculated mass measuring about 7 cm which was responsible for the patient’s severe anemia. we treated it as a pedunculated polyp. After being pretreated the stalk with an endoloop which was placed around the base of the mass to prevent post-polypectomy bleeding (PPB), the pedunculated BGH was removed by HSP completely. The stalk of the mass was negative. We achieved a curative resection. Conclusion It is a safe and effective for our patient to treat the pedunculated BGH measuring about 7 cm as a pedunculated polyp and remove it by HSP. And future prospective studies in larger cohorts are needed to confirm it.

Leukemia is one of the major diseases causing cancer‐related deaths in the young population, and its cure rate is unsatisfying with side effects on patients. Fluorouracil (5‐FU) is currently used as an anticancer drug for leukemia patients. Casticin, a natural polymethoxyflavone, exerts anticancer activity against many human cancer cell lines in vitro, but no other reports show 5‐FU combined with casticin increased the mouse leukemia cell apoptosis in vitro. Herein, the antileukemia activity of 5‐FU combined with casticin in WEHI‐3 mouse leukemia cells was investigated in vitro. Treatment of two‐drug combination had a higher decrease in cell viability and a higher increase in apoptotic cell death, the level of DNA condensation, and the length of comet tail than that of 5‐FU or casticin treatment alone in WEHI‐3 cells. In addition, the two‐drug combination has a greater production rate of reactive oxygen species but a lower level of Ca2+ release and mitochondrial membrane potential (ΔΨm) than that of 5‐FU alone. Combined drugs also induced higher caspase‐3 and caspase‐8 activities than that of casticin alone and higher caspase‐9 activity than that of 5‐FU or casticin alone at 48 hours treatment. Furthermore, 5‐FU combined with casticin has a higher expression of Cu/Zn superoxide dismutase (SOD [Cu/Zn]) and lower catalase than that of 5‐FU or casticin treatment alone. The combined treatment has higher levels of Bax, Endo G, and cytochrome C of proapoptotic proteins than that of casticin alone and induced lower levels of B‐cell lymphoma 2 (BCL‐2) and BCL‐X of antiapoptotic proteins than that of 5‐FU or casticin only. Furthermore, the combined treatment had a higher expression of cleaved poly (ADP‐ribose) polymerase (PARP) than that of casticin only. Based on these findings, we may suggest that 5‐FU combined with casticin treatment increased apoptotic cell death in WEHI‐3 mouse leukemia cells that may undergo mitochondria and caspases signaling pathways in vitro.

Background/Aim: Cervical cancer is considered poorly chemo-sensitive in women and its treatment remains unsatisfactory. Cyperus rotundus is used in Chinese medicine as a therapeutic agent for women's disease. The effects and molecular mechanisms of the ethanol extraction of C. rotundus (CRE) on cervical cancer remain unclear. We aimed to explore the mechanisms and genetic influence of CRE on cervical cancer. Materials and Methods: HeLa, human cervical cancer cells were treated with various doses of CRE and changes in cell morphology and cell viability were assessed using microscopy and flow cytometry. Finally, we performed a microarray analysis to scan related genes. Results: The treatment of CRE on HeLa cells caused morphological changes and induced chromatin condensation. DNA microarray analysis showed that CRE led to up-regulation of 449 genes and downregulation of 484 genes, which were classified in several interaction pathways. Conclusion: CRE changed HeLa cell morphology and induced gene expression which associated with apoptosis and cell-cycle arrest. These results provide important information at the transcription level for targeting treatments of human cervical cancer.Cyperus rotundus L. (Cyperaceae) has been extensively used in traditional medicine in Asia, Africa, and Europe. It is also known as nutgrass and is cultivated widely in tropical, subtropical and temperate regions. It is prescribed for gynecological disorders, including dysmenorrhea and irregular menstruation, while its rhizomes (rootstalks) have been used as sedatives and analgesics (1, 2). Recently, many studies have demonstrated that its rhizomes have a vast range of biological and pharmacological functions, including anti-oxidant, antiinflammatory, anti-diabetic, anti-allergic, anti-nociceptive and anti-cancer effects (2-4). The active chemical constituents of C.

Background Foreign body ingestion is a common clinical problem. The upper esophagus is the most common site of foreign body, accounting for more than 75% of all cases, but cases with a foreign body in the duodenal papilla or common bile duct are rarely reported. Case presentation Herein, we report a rare case that a patient’s abdominal pain resembling gastric ulcer was caused by a 3 cm long fishbone inserted into the duodenal papilla. Conclusion Fishbone inserted into the duodenal papilla can cause an abdominal pain resembling gastric ulcer. Endoscopy is useful for the diagnosis and treatment of fishbone ingestion in clinical.