Microtia is a congenital malformation of the external ear caused by genetic and/or environmental factors. However, no causal genetic mutations have been identified in isolated microtia patients. In this study, we utilized targeted genomic capturing combined with next-generation sequencing to screen for mutations in 307 deafness genes in 32 microtia patients. Forty-two rare heterozygous mutation...

Primary signet-ring cell adenocarcinoma (SRCA) of the lung is very rare. A 78-year-old man consulted to our hospital because of loss of appetite. Physical examination showed lymphadenopathy of the cervical lymph nodes. Chest X-ray showed a tumor of the right upper lobe. Blood laboratory test showed an increase of LDH and CRP. Tumor markers (CYFRA, SCC, CEA, ProGRP) were within normal range. Cli...

The named entity recognition (NER) task involves identifying noun phrases that are names, and assigning a class to each name. This task has its origin from the Message Understanding Conferences (MUC) in the 1990s, a series of conferences aimed at evaluating systems that extract information from natural language texts. It became evident that in order to achieve good performance in information ex...

Although several case reports and series of primary signet-ring cell adenocarcinoma (SRCA) of the lung have been reported, primary SRCA of the extrapulmonary main bronchus has not been reported. A 61-year-old man was found to have a tumor of the mediastinum of the left pulmonary hilus on routine chest X-ray examination. A transbronchial endoscopy revealed an elevated tumor in the extrapulmonary...

Because immunohistochemical features of adenoid squamous cell carcinoma (AdSCC) of the oral cavity is unclear, the author reports herein AdSCC in the gingival with an emphasis on immunohistochemical features. A 73-year-old woman presented with a left lower gingival tumor. The tumor was mildly elevated tumor measuring 1.5 x 1.5 x 0.5 cm. Dentist's diagnosis was granulation tissue, and a biopsy w...

Human mucin gene MUC5AC is clustered with MUC2, MUC5B and MUC6 on chromosome 11p15.5. We report here the full length cDNA sequence upstream of the repetitive region of human MUC5AC. We have also determined the sequence of its large central tandem repeat array. The 5'-region reveals high degree of sequence similarity with MUC2 and MUC5B and codes for 1336 amino acids organized into a signal pept...

The mucus layer in the gastrointestinal (GI) tract is considered to be the first line of defense to the external environment. Alteration in mucus components has been reported to occur during intestinal nematode infection in ruminants, but the role of mucus in response to abomasal parasites remains largely unclear. The aim of the current study was to analyze the effects of an Ostertagia ostertag...

PURPOSE Mucins are important biomolecules that frequently display an altered expression under pathological conditions. In a search for a unique and reliable marker(s) specific for pancreatic adenocarcinoma, we investigated the expression of different MUC genes in pancreatic tumors and tumor cell lines, in chronic pancreatitis, and in the normal pancreas. EXPERIMENTAL DESIGN Total RNA from 16 ...

Helicobacter pylori adhesion to gastric epithelial cells constitutes a key step in the establishment of a successful infection of the gastric mucosa. The high representation of outer membrane proteins in the bacterial genome suggests the relevance of those proteins in the establishment of profitable interactions with the host gastric cells. Gastric epithelial cells are protected by a mucous lay...

A 77-year-old woman underwent an upper gastrointestinal (UGI) endoscopy screening examination, and a 10-mm reddish, submucosal tumor-like lesion was found on the posterior wall of the fornix. Biopsy was performed, but there was no evidence of malignancy, so annual follow-up by UGI endoscopy was decided upon. After 12 years, examination of another biopsy specimen revealed an adenocarcinoma of th...