cdh23 affects congenital hearing loss through regulating purine metabolism.

Introduction: The pathogenic gene plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown.

Methods: In this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic gene , subsequently; the mutation has been validated using Sanger sequencing method.

Successful Endoscopic Resection of Primary Rectal Mucosa-Associated Lymphoid Tissue Lymphoma by Endoscopic Submucosal Dissection: A Case Report.

Mucosa-associated lymphoid tissue (MALT) lymphoma arises in extra-nodal sites from the malignant transformation of B lymphocytes that are mainly triggered by infection or autoimmune process. MALT lymphoma is frequently detected in the gastrointestinal tract. As the causal relationship between Helicobacter pylori (H.

Gastric Mucosa-Associated Lymphoid Tissue Lymphomas Diagnosed by Jumbo Biopsy Using Endoscopic Submucosal Dissection: A Case Report.

The stomach is the most common primary site of mucosa-associated lymphoid tissue (MALT) lymphoma, and sometimes the histopathological diagnosis is particularly difficult. An endoscopic forceps biopsy is the primary diagnostic test, but false negative results are very common. Therefore, a jumbo biopsy is essential for accurate diagnosis of clinically suspected cases.

Observational study of colonoscopy techniques used for acute colorectal obstruction: A single-center experience.

The prevalence of acute colorectal obstruction at the hospital setting is high. There is need for improvement in the quality of colonoscopy for relieving obstruction. A retrospective, uncontrolled, open-label study was conducted, with the aim of documenting the causes of acute colorectal obstruction and the quality of colonoscopy practice in managing obstruction at a university hospital in China.

Endoscopic mucosal resection of duodenal bulb adenocarcinoma with neuroendocrine features: An extremely rare case report.

Duodenal adenocarcinoma, especially duodenal bulb with neuroendocrine features (NEF), is extremely rare. Here, we report one such case of duodenal bulb adenocarcinoma with neuroendocrine features. A 63-year-old Han Chinese woman was admitted to our department with the diagnosis of a duodenal bulb polyp and underwent an endoscopic mucosal resection.

[An epidemiological investigation on a food-born outbreak of noroviru caused by Sydney 2012 G II.4 strain].

Objective: To identify the source of infection, route of transmission and risk factors related to a cluster of acute gastroenteritis cases in a university of Guangzhou.

Methods: Cases were identified according to the definition. Descriptive epidemiological approaches and case-control study designs were employed in the analysis.

[The molecular epidemiology characteristics of norovirus in environment and clinical samples in Guangzhou from 2009 to 2011].

Objective: To investigate the molecular epidemiological characteristics of norovirus in Guangzhou from 2009 to 2011.

Methods: A total of 183 water samples, 1162 seafood samples and 1066 diarrhea stool specimens were collected from January 2010 to May 2011, June 2009 to June 2011 and July 2009 to December 2010 respectively in Guangzhou. Norovirus was detected by real time reverse transcript-PCR (qRT-PCR).

[Investigation on a seasonal influenza accompanying with the first locale novel A/H1N1 influenza outbreak in China].

Objective: To timely summarize past experience and to provide more pertinent reference for control and prevention in A/H1N1 cases in influenza season.

Methods: During May 25 to 31, 2009, 2 secondary community cases caused by a influenza A/H1N1 imported case. In the close contacts of 3 A/H1N1 cases, 14 had some aspirator symptoms onset, such as fever (> or = 37.

[A comparative study of the diagnostic value of endoscopic ultrasonography with pathological features of upper gastrointestinal mesenchymal tumors].

Objective: To study the pathological and immunohistochemical features of upper gastrointestinal mesenchymal tumors (GIMTs) and compare them with endoscopic ultrasonographic (EUS) characteristics so as to evaluate the diagnostic value of EUS in upper digestive tract GIMTs.

Methods: Seventy-two pathological specimens of upper digestive tract GIMTs (34 surgical specimens and 38 endoscopic mucosal resection (EMR) specimens) were collected. The pathological features and the expression of CD(117), CD(34), SMA and S-100 were observed by immunohistochemical method with light microscope.

[Relation between clinical detection rates of the novel influenza virus A/H1N1 RNA in confirmed patients in Guangzhou and the disease course].

Objective: To study the relation of the detection rates of the novel influenza virus A/H1N1 RNA in clinically confirmed patients in the 2009 pandemic with the age distribution of the patients and the disease course.

Methods: A total of 151 clinical patients with H1N1 infection were enrolled in this study, from whom 833 dynamic throat swab samples were obtained for detecting the H1N1 RNA using real-time PCR. A statistical analysis of the age distribution was performed among the patients with different disease courses.

[Analysis of epidemiologic feature and genetic sequence of Sapovirus in China].

To investigate epidemiologic feature and genetic variance of Sapovirus among children in China, fecal specimens were collected from children under 5 years old with acute diarrhea from Feb 2006 to Jan 2007 in nine provinces including Anhui, Fujian et al. A total of 1,110 fecal samples were detected for Sapovirus by reverse transcriptase-PCR (RT-PCR). Ten samples (0.

[A research on rotaviral diarrhea outbreak in Guangxi Province].

Objective: To analyze epidemiological characters of an outbreak of rotavirus diarrhea in Daxing County, Guangxi Province.

Methods: Rotavirus-positive specimens were identified by ELISA kit. G/P typing assays were confirmed with multiplex seminested RT-PCR.

[Epidemiological investigation of an outbreak of acute gastroenteritis caused by human calicivirus in Lulong County].

Objective: To survey an outbreak of acute gastroenteritis in Lulong County and analyze the cause of the disease.

Methods: Epidemiological methods were applied to investigate an outbreak of acute gastroenteritis occurred in June 2000 in Lulong County. Stool specimens were collected from diarrhea patients and were tested for human calicivirus by ELISA and RT-PCR.

[Investigation of human calicivirus (HuCV) diarrhea among infantile and young children in China, 1999--2005].

Human calicivirus (HuCV) has been well known as an important pathogen of outbreak and sporadic acute nonbacterial gastroenteritis worldwide. To investigate epidemiological feature and genetic diversity of HuCV among children in China, fecal specimens were collected from children under 5 years of age with acute diarrhea at 13 hospitals in different provinces across China. The study was performed year-round from January 1999 to June 2005.

[Etiological study on viral diarrhea among children in Lanzhou, Gansu, from July 2004 through June 2005].

Objective: To study molecular epidemiology of four major etiological viruses among children with acute diarrhea in Lanzhou, Gansu province.

Methods: Stool specimens were collected from all 400 inpatients less than 5 years old with acute diarrhea admitted in Department of Pediatrics, the First Hospital, Lanzhou University from Jul. 2004 through Jun.

[Molecular epidemiology of human caliciviruses diarrhea among infants and young children in Lanzhou from December 2001 to June 2004].

Objective: To investigate the characteristics of human caliciviruses (HuCV) diarrhea among infants and young children with acute diarrhea in Lanzhou, Gansu Province, China by using molecular epidemiologic techniques.

Methods: Stool specimens were collected from both outpatients and inpatients with acute diarrhea in Lanzhou. Enzyme-linked immunosorbant assay (ELISA) was used to detect rotavirus antigen (RVA).

[Phylogenetic analysis of enterovirus 71 isolated from patients with hand, foot and mouth disease in Guangdong and Fujian provinces, 2000-2001].

Objective: To identify enterovirus 71 (EV71) strains isolated from patients with hand, foot and mouth disease (HFMD) in Guangdong and Fujian provinces from 2000 to 2001 by using phylogenetic analysis.

Methods: All 25 samples were first tested for enteric viruses by RT-PCR using enterovirus specific primers EV-1 and EV-2, and then were identified for EV71 by RT-PCR using EV71 specific primers 159S and 162A. The amplicons of 485bp segment (part of the VP1 gene) were cloned into pGEM-T and sequenced.

[Investigation of an outbreak of acute diarrhea caused by Human calicivirus].

Background: To survey a diarrhea outbreak in Guangan city and analyze the cause of the disease.

Methods: The population enrolled in the surveillance came from four different settings and was randomly sampled. Stool specimens collected from diarrhea patients were tested ordinarily for enteric bacteria and further examined for viral pathogens with PAGE, ELISA and RT-PCR.

[Rotavirus surveillance data from Kunming Children's Hospital, 1998 - 2001].

Objective: To study the epidemiological status on rotavirus diarrhea in Kunming to improve the rotavirus vaccine immunization program.

Methods: A hospital-based sentinel surveillance program for rotavirus was set up among children less than 5 years old with acute diarrhea in Kunming Children's Hospital. Clinical information and fecal specimens were collected and rotavirus were detected by polyacrylamide gel electrophoresis (PAGE) and/or enzyme linked immunosorbent assay (ELISA).

[Epidemiological study of rotavirus diarrhea in Beijing, China - a hospital-based surveillance from 1998 - 2001].

Objective: To provide information on epidemiology of rotavirus infection in Beijing, China.

Methods: An ongoing hospital-based surveillance was conducted among children < 5yr old with acute diarrhea according to WHO generic protocol (CID-98). During a 3-year study (Apr.

[Surveillance finding on rotavirus in Changchun children's hospital during July 1998-June 2001].

Objective: To establish baseline patterns of rotavirus diarrhea and to describe its epidemiologic features in Changchun city, prior to rotavirus vaccine immunization.

Methods: Hospital-based surveillance was conducted among children under 5 years old with acute diarrhea in Changchun Children's Hospital. Fecal samples were determined to identify rotavirus by PAGE and/or ELISA.