Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis.

Background: GATA2 deficiency, a syndrome caused by heterozygous loss-of-function variants in the gene, is characterized by immunodeficiency, bone marrow failure, and predisposition to myeloid neoplasms. Its clinical presentation is highly variable, making early diagnosis challenging. Although GATA2 deficiency has been linked to systemic inflammation, gastrointestinal involvement mimicking inflammatory bowel disease (IBD) is extremely rare.

Preoperative assessment using a scoring system after neoadjuvant chemotherapy with docetaxel, cisplatin, and 5-fluorouracil for locally advanced esophageal cancer: Who can avoid surgery?

Neoadjuvant chemotherapy (NAC) with docetaxel, cisplatin, and 5-fluorouracil (DCF) is highly effective for advanced esophageal squamous cell carcinoma, and patients with a good response sometimes desire to avoid surgery. The aim of this single-center, retrospective study was to predict the probability of residual tumors using a newly devised scoring system and identify conditions that may obviate the need for surgery. Between January 2017 and March 2024, 106 patients received NAC with DCF, followed by radical resection at our institution.

Enhancement of 2,3,7,8-tetrachlorodibenzo-p-dioxin toxicity by lipopolysaccharide in developing zebrafish lacking canonical pattern recognition pathways.

Lipopolysaccharide (LPS), a component of the outer membrane of Gram-negative bacteria, is known to be a major inducer of inflammatory responses through Toll-like receptor 4 (TLR4) in mammals. The potentiation of aryl hydrocarbon receptor (AHR)-mediated responses by LPS has been reported in mammalian systems. However, in contrast to mammals, the zebrafish TLR4 homolog does not recognize LPS.

Safety and efficacy of sedation for pediatric patients with cancer and developmental disabilities.

Background: Children with developmental disabilities (DDs) tend to have more fear of loud noises and needles than those without. However, how DDs affect sedation during painful procedures in pediatric patients with cancer is unclear. This study aimed to evaluate the sedative doses and adverse events (AEs) associated with sedation using a combination of midazolam and ketamine for bone marrow aspiration and intrathecal therapy.

Urinary lipid production in dogs with urothelial carcinoma.

Canine urothelial carcinoma (cUC) is a prevalent and aggressive malignancy in dogs. Current treatments have limited effectiveness, and delays in diagnosis are often a concern. cUC is unique in that it shows high responsiveness to cyclooxygenase (COX) inhibitors and has a high frequency of a single nucleotide mutation in BRAF, known as BRAF.

Impact of Nivolumab Plus Chemotherapy on Conversion Therapy in Clinical Stage IVB HER2-negative Gastric Cancer.

Background/aim: The approval of first-line nivolumab plus chemotherapy marks a breakthrough in treating human epidermal growth factor receptor 2 (HER2)-negative unresectable advanced gastric and gastroesophageal junction (G/GEJ) cancer. This study aimed to evaluate the impact of nivolumab plus chemotherapy on conversion therapy in clinical stage (cStage) IVB HER2-negative G/GEJ adenocarcinoma.

Patients And Methods: Patients with cStage IVB HER2-negative G/GEJ adenocarcinoma who underwent systemic chemotherapy at Hyogo Medical University Hospital from January 2017 to March 2023 were included.

A Retrospective Review of 28 Cases of Pediatric Malignant Renal Tumors at a Single Institution.

Advances in treatment have dramatically improved the outcomes of pediatric renal malignancies. We reviewed cases of renal malignant tumors that were managed in our institution. The patients' background factors, pathological diagnoses, stages, outcomes and late complications were retrospectively reviewed using medical records of 28 patients with renal tumors who were treated at our institution from 1984 to 2022.

An increase in the urinary levels of prostaglandin D and platelet-activating factor metabolites in dogs with mast cell tumor.

The diagnosis of canine mast cell tumor (MCT) via cytology carries the risk of triggering life-threatening anaphylactic reactions due to massive histamine release. Since mast cells release various lipid mediators, which are excreted in urine, we aimed to explore urinary lipid metabolites as potential non-invasive diagnostic markers for MCT. Liquid chromatography-mass spectrometry-based analysis detected 32 types of lipid metabolites in the urine of MCT dogs.

Efficacy of robot-assisted double-flap techniques with refinements to minimize anastomosis-related complications after proximal gastrectomy.

Purpose: The double-flap technique (DFT) is an anti-reflux reconstruction procedure performed after proximal gastrectomy (PG), but its complexity and high incidence of anastomotic stenosis are problematic. We conducted this study to demonstrate the efficacy of robot-assisted DFT, with refinements, to address these issues.

Methods: Surgical outcomes were compared between the following procedures modified over time at our institution: conventional open DFT (group O, n = 16); early robotic DFT (group RE, n = 19), which follows the conventional open PG approach; and late robotic DFT (group RL, n = 21), which incorporates refinements to the early robotic DFT technique by exploiting more of the robotic capabilities available.

Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel variant.

Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. In Japan, NBS testing (measurement of the T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC)) was launched in 2017 and has expanded nationwide in recent years. In this study, we report a Japanese patient with X-linked SCID with a novel variant identified through NBS.

The potential of AI-assisted gastrectomy with dual highlighting of pancreas and connective tissue.

Background: Standard gastrectomy with D2 lymph node (LN) dissection for gastric cancer involves peripancreatic lymphadenectomy [1]. This technically demanding procedure requires meticulous dissection within the dissectable layers of connective tissue, while identifying and preserving the pancreas [2]. Our previous study demonstrated the proficiency of Eureka, a surgical artificial intelligence (AI) system, in recognizing both connective tissue and the pancreas [3,4].

Correction: Dong et al. Possible Shifts in the Genetic Diversity of Red-crowned Cranes () in Hokkaido, Japan: Indications of Continental Gene Flow. 2024, , 1633.

In the original publication [...

Possible Shifts in the Genetic Diversity of Red-crowned Cranes () in Hokkaido, Japan: Indications of Continental Gene Flow.

Red-crowned cranes () consist of two distinct groups: the continental population and the island population. The island population, localized in Hokkaido, Japan, exhibits very low genetic diversity due to its rapid recovery from the brink of extinction. Our previous research in 2018 highlighted a possible mating between a male from the continental population, with the Gj5 haplotype, and a female from the island population, with the Gj2 haplotype, at Hitominuma Sawmp shore in northern Hokkaido.

Precise highlighting of the pancreas by semantic segmentation during robot-assisted gastrectomy: visual assistance with artificial intelligence for surgeons.

Background: A postoperative pancreatic fistula (POPF) is a critical complication of radical gastrectomy for gastric cancer, mainly because surgeons occasionally misrecognize the pancreas and fat during lymphadenectomy. Therefore, this study aimed to develop an artificial intelligence (AI) system capable of identifying and highlighting the pancreas during robot-assisted gastrectomy.

Methods: A pancreas recognition algorithm was developed using HRNet, with 926 training images and 232 validation images extracted from 62 scenes of robot-assisted gastrectomy videos.

Treatment strategy for successful conversion surgery in clinical stage IVB gastric cancer.

Introduction: Recent advances in chemotherapy have resulted in successful conversion surgery (CS) for clinical stage (cStage) IVB gastric cancer (GC). This study aimed to evaluate the success rate of CS in clinical practice and determine optimal treatment strategies.

Methods: Totally, 166 patients with cStage IVB gastric and gastroesophageal junction adenocarcinoma, who underwent chemotherapy at Hyogo Medical University Hospital between January 2017 and June 2022, were included.

Analysis of Crop Consumption Using Scatological Samples from the Red-Crowned Crane in Eastern Hokkaido, Japan.

Total DNA extracts from the intestinal contents of 60 flying red-crowned cranes (juveniles, subadults and adults) found dead in 2006-2021, and the feces of 25 chicks collected in June and July of 2016-2018, were used for PCR reactions with primers specific for 16 crops, followed by high-throughput sequencing. The most predominant crop detected was corn in adult and subadult cranes (61.7%).

Production profile of lipid mediators in conjunctival lavage fluid in allergic and infectious conjunctivitis in guinea pigs.

Introduction: Conjunctivitis is a major ocular disease classified into allergic or infectious. The pathological features of conjunctivitis are not fully understood despite its high morbidity rate; thus, its differentiation can be difficult.

Materials And Methods: We used ovalbumin-induced allergic conjunctivitis and lipopolysaccharide-induced infectious conjunctivitis models of guinea pigs.

Proposal for T3 classification of esophagogastric junction carcinoma based on the interconnection of extramural anatomical structures.

Classification of extramural invasion of esophagogastric junction carcinoma (EGJC) is not yet established. The anatomy surrounding the EGJ alters between the mediastinum and the abdominal cavity. This review proposed a T3 classification of EGJC based on anatomical continuity.