Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases.

Diagnosis of Helicobacter pylori-induced gastritis by serum pepsinogen levels.

Background And Aim: Gastric cancer develops due to atrophic gastritis induced by Helicobacter pylori (H. pylori) infection. Serum levels of pepsinogen (PG) are known to be excellent markers for evaluating the degree of atrophic gastritis.

Pseudo Gitelman Syndrome Associated With Pregnancy.

Background: Gitelman syndrome is a rare inherited renal tubulopathy associated with metabolic alkalosis and electrolyte disorders. Pseudo Gitelman syndrome presents with the same clinical characteristics as Gitelman syndrome, yet without genetic mutations in SLC12A3.

Case: A 32-year-old woman with no remarkable medical and family history developed hypokalemia at 32 weeks of gestation.

Lipid starvation and hypoxia synergistically activate ICAM1 and multiple genes in an Sp1-dependent manner to promote the growth of ovarian cancer.

Background: Elucidation of the molecular mechanisms by which cancer cells overcome hypoxia is potentially important for targeted therapy. Complexation of hypoxia-inducible factors (HIFs) with aryl hydrocarbon receptor nuclear translocators can enhance gene expression and initiate cellular responses to hypoxia. However, multiple molecular mechanisms may be required for cancer cells to adapt to diverse microenvironments.

Discovery of molecular markers to discriminate corneal endothelial cells in the human body.

The corneal endothelium is a monolayer of hexagonal corneal endothelial cells (CECs) on the inner surface of the cornea. CECs are critical in maintaining corneal transparency through their barrier and pump functions. CECs in vivo have a limited capacity in proliferation, and loss of a significant number of CECs results in corneal edema called bullous keratopathy which can lead to severe visual loss.

Time Trends in Helicobacter pylori Infection and Atrophic Gastritis Over 40 Years in Japan.

Background: Helicobacter pylori infection produces progressive mucosal damage that may eventually result in gastric cancer. We studied the changes that occurred in the presence and severity of atrophic gastritis and the prevalence of H. pylori infection that occurred coincident with improvements in economic and hygienic conditions in Japan since World War II.

Successful treatment of primary cardiac lymphoma causing ST-elevation myocardial infarction by percutaneous coronary intervention combined with chemotherapy.

A 76-year-old immunocompetent woman presented to our hospital with general fatigue. Her blood pressure was 60/40 mm Hg and pulse rate was 110 bpm. An electrocardiogram showed ST-elevation in the II, III and aVF leads with complete atrioventricular block.

[Surgical resection of a huge gastric gastrointestinal stromal tumor after preoperative adjuvant chemotherapy].

A 73-year-old man was referred to our hospital because of positive results on a fecal occult blood test. He had severe anemia, and abdominal computed tomography (CT) revealed a huge 18 × 11 cm tumor in the lower gastric corpus. Pathological analysis of a biopsy sample revealed a gastrointestinal stromal tumor (GIST).

Corneal topographic analysis of patients with Mooren ulcer using 3-dimensional anterior segment optical coherence tomography.

Purpose: To investigate the corneal topography and visual function of patients with Mooren ulcer using 3-dimensional anterior segment optical coherence tomography (3-D AS-OCT).

Methods: Fourteen eyes of 9 patients with Mooren ulcer were studied. Pachymetric and axial power maps were obtained by 3-D AS-OCT.

Genome-wide profiling of 8-oxoguanine reveals its association with spatial positioning in nucleus.

8-Oxoguanine (8-oxoG) is one of the most common DNA lesions generated by reactive oxygen species. In this study, we analysed the genome-wide distribution profile of 8-oxoG by combining immunoprecipitation by antibodies specific for the DNA fragments containing 8-oxoG with a microarray that covers rat genome. Genome-wide mapping of 8-oxoG in normal rat kidney revealed that 8-oxoG is preferentially located at gene deserts.

Hemophagocytic lymphohistiocytosis associated with a parvovirus B19 infection during pregnancy.

Background: Hemophagocytic lymphohistiocytosis is potentially fatal. Prompt diagnosis and initiation of treatment are critical for ensuring the best possible prognosis.

Case: We present a case of parvovirus B19 infection related to hemophagocytic lymphohistiocytosis during pregnancy.

Value of a new stick-type rapid urine test for the diagnosis of Helicobacter pylori infection in the Vietnamese population.

Aim: To assess the value of a new test for the diagnosis of Helicobacter pylori (H. pylori) infection, Rapirun H. pylori Antibody Stick (Rapirun Stick), in a Vietnamese population.

Characteristic epithelium with low-grade atypia appears on the surface of gastric cancer after successful Helicobacter pylori eradication therapy.

Background: The incidence of gastric cancer after successful Helicobacter pylori eradication has been increasing. We previously reported that epithelium with low-grade atypia (ELA) appeared on the surface of gastric cancer after H. pylori eradication.

Characteristics of metachronous gastric tumors after endoscopic submucosal dissection for gastric intraepithelial neoplasms.

Background. Recently, endoscopic submucosal dissection (ESD) has become a standard treatment method for early gastric cancer and concurrent stomach preservation. However, metachronous recurrences have become a major problem.

A computer system to be used with laser-based endoscopy for quantitative diagnosis of early gastric cancer.

Goals: To evaluate the usefulness of a newly devised computer system for use with laser-based endoscopy in differentiating between early gastric cancer, reddened lesions, and surrounding tissue.

Background: Narrow-band imaging based on laser light illumination has come into recent use. We devised a support vector machine (SVM)-based analysis system to be used with the newly devised endoscopy system to quantitatively identify gastric cancer on images obtained by magnifying endoscopy with blue-laser imaging (BLI).

Annexin A4 is involved in proliferation, chemo-resistance and migration and invasion in ovarian clear cell adenocarcinoma cells.

Ovarian clear cell adenocarcinoma (CCC) is the second most common subtype of ovarian cancer after high-grade serous adenocarcinomas. CCC tends to develop resistance to the standard platinum-based chemotherapy, and has a poor prognosis when diagnosed in advanced stages. The ANXA4 gene, along with its product, a Ca(++)-binding annexin A4 (ANXA4) protein, has been identified as the CCC signature gene.

Advanced method for evaluation of gastric cancer risk by serum markers: determination of true low-risk subjects for gastric neoplasm.

Background: Patients with negative anti-Helicobacter pylori antibody titer and high pepsinogen (PG) level (group A) are regarded as having a low risk for gastric cancer. However, gastric cancer cases are occasionally observed in this group. We aimed to elucidate the clinical features of gastric neoplasm in group A patients and reviewed advanced methods for mass screening.

Predictors of incomplete resection and perforation associated with endoscopic submucosal dissection for colorectal tumors.

Background And Objective: Colorectal endoscopic submucosal dissection (ESD) is technically challenging. Our aim was to identify predictors of incomplete resection and perforation in colorectal ESD.

Design: Retrospective study.

Enhanced autophagy is required for survival in EGFR-independent EGFR-mutant lung adenocarcinoma cells.

Lung cancers harboring epidermal growth factor receptor (EGFR) mutations depend on constitutive activation of the kinase for survival. Although most EGFR-mutant lung cancers are sensitive to EGFR tyrosine kinase inhibitors (TKIs) and shrink in response to treatment, acquired resistance to TKI therapy is common. We demonstrate here that two EGFR-mutated lung adenocarcinoma cell lines, HCC827 and HCC4006, contain a subpopulation of cells that have undergone epithelial-to-mesenchymal transition and survive independent of activated EGFR.

A large-scale behavioral screen to identify neurons controlling motor programs in the Drosophila brain.

Drosophila is increasingly used for understanding the neural basis of behavior through genetically targeted manipulation of specific neurons. The primary approach in this regard has relied on the suppression of neuronal activity. Here, we report the results of a novel approach to find and characterize neural circuits by expressing neuronal activators to stimulate subsets of neurons to induce behavior.