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A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 was performed on 140 Japanese patients with various childhood epilepsies largely including Dravet syndrome and genetic epilepsy with febrile seizures plus. The mutational analysis identified one novel missense mutation of GABRG2 (c.236A>G: p.N40S) in a patient with generalized tonic-clonic seizures (GTCS). The mutation was heterozygous and replacing a highly conserved Asn residue with a Ser. The affected amino acid was located at residue 40 of the mature GABRG2 protein, which was near the first one of two high-affinity benzodiazepine-binding domains of the γ2 subunit (Lys-41-Trp-82). This mutation in such an important position may hamper the function of the channel and contribute to the case’s pathogenesis of GTCS. [ABSTRACT FROM AUTHOR]

Objective: The population-based colorectal cancer screening guidelines in Japan recommend an annual fecal immunochemical test (FIT). However, there is no consensus on the need for annual FIT screening for patients who recently performed a total colonoscopy (TCS). Therefore, we evaluated the repeated TCS results for patients with positive FIT after a recent TCS to assess the necessity of an annual FIT., Methods: We reviewed patients with positive FIT in opportunistic screening from April 2017 to March 2022. The patients were divided into two groups: those who had undergone TCS within the previous 5 years (previous TCS group) and those who had not (non-previous TCS group). We compared the detection rates of advanced neoplasia and colorectal cancer between the two groups., Results: Of 671 patients, 151 had received TCS within 5 years and 520 had not. The detection rates of advanced neoplasia in the previous TCS and non-previous TCS groups were 4.6% and 12.1%, respectively ( p < 0.01), and the colorectal cancer detection rates were 0.7% and 1.5%, respectively (no significant difference). The adenoma detection rates were 33.8% in the previous TCS group and 40.0% in the non-previous TCS group (no significant difference)., Conclusions: Only a few patients were diagnosed with advanced neoplasia among the patients with FIT positive after a recent TCS. For patients with adenomatous lesions on previous TCS, repeated TCS should be performed according to the surveillance program without an annual FIT. The need for an annual FIT for patients without adenomatous lesions on previous TCS should be prospectively assessed in the future., Competing Interests: None., (© 2024 The Authors. DEN Open published by John Wiley & Sons Australia, Ltd on behalf of Japan Gastroenterological Endoscopy Society.)

A 75-year-old woman visited our hospital with constipation. Colonoscopy revealed a submucosal tumor in the rectum. She was followed up as a case of mucosal prolapse syndrome. Six years later, she was referred to our hospital due to hematochezia and abdominal pain. Colonoscopy revealed that the submucosal tumor had an ulcerative appearance with bleeding. Low anterior resection was performed. Amyloid protein deposition was detected from the submucosa to subserosa. Other organs showed no evidence of amyloidosis; we therefore diagnosed the patient with localized rectal amyloidosis. This is a rare case of symptomatic localized rectal amyloidosis whose long-term progression was able to be endoscopically observed.

The development of ZFN, TALEN, and CRISPR/Cas9 systems has simplified the process of generating knockout (KO) and knock-in (KI) rats in addition to mice. However, in rats, an efficient genome editing technique that uses in vitro fertilized oocytes has not been established. Recently, we reported the stable generation of offspring from five standard strains of rats by superovulation and in vitro fertilization (IVF). Furthermore, genome-edited rats can be easily generated by electroporation. First, juvenile female rats are administered LHRH (luteinizing hormone-releasing hormone) to synchronize the estrous cycle and then AIS (Automatic Identification System) with PMSG (pregnant mare serum gonadotropin) before hCG (human chorionic gonadotropin) for superovulation. Sperm collected from a sexually mature male rat the following morning is then pre-cultured. Cumulus cell-oocyte complexes (COCs) are collected from female rats under anesthesia, and COCs are induced into a medium containing concentration-adjusted sperm. Thereafter, oocytes with two pronucleus are selected as fertilized oocytes. Next, fertilized oocytes are transferred into a glass chamber containing CRISPR ribonucleoprotein (RNP) complexes formed from gRNA and Cas9 protein. After electroporation, fertilized oocytes are then immediately transferred to culture medium. The next day, embryos are transferred into the oviduct of pseudopregnant female rats. Using the above method, offspring can be obtained 22 days after the day of embryo transfer. In this paper, we outline a method allowing simple and efficient generation of genetically modified rats without the need for technically difficult micromanipulation techniques., (© 2023. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.)

Gastrointestinal stromal tumors (GIST) typically appear as solid masses, and cystic formation is uncommon. Most stomach GISTs with cystic formation progress outside the gastric wall and are frequently misdiagnosed as epigastric cystic tumors derived from pancreas or liver. An asymptomatic 72-year-old male underwent esophagogastroduodenoscopy, which revealed a submucosal tumor (SMT), approximately 50 mm in diameter, at the anterior wall of the gastric angle. The SMT was very soft with positive cushion sign. Endoscopic ultrasonography and contrast-enhanced computed tomography revealed that the SMT was a cystic tumor with solid component. Laparoscopic and endoscopic cooperative surgery were performed to remove the tumor. Histopathological analysis revealed that the tumor was a GIST with cystic formation. To the best of our knowledge, this the first documented case of a cushion sign-positive stomach GIST with cystic formation, which had mainly developed inside the stomach. This case suggests that we should keep in mind the possibility of cystic formation of GIST when the tumor has a solid component, even if it appears as a cushion sign-positive SMT.