The Caenorhabditis elegans INX‐4/Innexin is required for the fine‐tuning of temperature orientation in thermotaxis behavior

Innexins in invertebrates are considered to play roles similar to those of connexins and pannexins in vertebrates. However, it remains poorly understood how innexins function in biological phenomena including their function in the nervous systems. Here, we identified inx‐4, a member of the innexin family in C. elegans, by a forward screening of thermotaxis‐defective mutants. The inx‐4 mutants exhibited abnormal migration to a temperature slightly higher than the cultivation temperature, called mild thermophilic behavior. Rescue experiments revealed that INX‐4 acts in the major thermosensory neuron AFD to regulate thermotaxis behavior. INX‐4::GFP fusion protein localized exclusively along axons in AFD neurons. In addition, over‐expression of INX‐4 in AFD neurons induced a cryophilic behavior, which is opposite to inx-4 mutants. Our findings suggest that INX‐4/Innexin in AFD may fine‐tune the execution of thermotaxis behavior when moving to desired temperatures.     

Surgical experience of using the endoscope manipulator robot EMARO in totally extraperitoneal inguinal hernia repair: A case report

Robot‐assisted surgery has advanced rapidly since the 1980s. However, new equipment is still needed to overcome problems in conventional endoscopic surgery, including unique risks, such as camera shake and communication difficulties between the operator and the scopist. EMARO, an endoscope manipulator robot, is the world's first pneumatically driven endoscope‐holder robot that can operate flexibly and smoothly with the use of air pressure. We herein report the surgical experience of using EMARO in totally extraperitoneal inguinal hernia repair. A 77‐year‐old Japanese man presented with bulging in the right groin area. After we diagnosed a right inguinal hernia, endoscopic inguinal hernia repair was performed. We selected the totally extraperitoneal approach with EMARO. The endoscopic procedure time was 100 minutes, and no intraoperative complications occurred. EMARO brings together features of smooth motion and good manipulation performance. This operation was performed safely and was comparable to a conventional operation completed with human assistants. Solo surgery with EMARO was beneficial in this inguinal hernia patient.     

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

α-L -Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype. We studied mutations in the IDUA gene from 19 MPS-I patients, including two pairs of siblings, with various clinical phenotypes (Hurler, 6 cases; Hurler/Scheie, 7 cases; Scheie, 6 cases). We report the presence of two common mutations that account for 42% of the 38 alleles in these patients. One is a novel 5-bp insertion between the thymidine at nt 704 and a cytosine at nt 705 (704ins5), which is seen only in the Japanese population. The other is a missense mutation, R89Q, which is also seen in Caucasians, although uncommonly. In the 19 Japanese MPS-I patients, the 704ins5 mutation accounted for 7 of 38 alleles (18%), while the R89Q accounted for 9 of 38 (24%). No Japanese patient was found to carry the W402X or Q70X alleles, the two most common MPS-I mutations in Caucasians. Homozygosity for the 704ins5 mutation is associated with a severe phenotype, and for the R89Q mutation with a mild phenotype. Compound heterozygosity for these two mutations produced an intermediate phenotype. Haplotype analysis using polymorphisms linked to the IDUA locus demonstrated that each mutation occurs on a different specific haplotype, suggesting that individuals with each of these common mutations derive from common founders. These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I. © 1996 Wiley-Liss, Inc.     

Food Protein-Induced Enterocolitis Syndrome in Children with Down Syndrome: A Pilot Case-Control Study

Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobin E-mediated food hypersensitivity disorder. However, little is known about the clinical features of FPIES in patients with Down syndrome (DS). Medical records of children with DS diagnosed at our hospital between 2000 and 2019 were retrospectively reviewed. Among the 43 children with DS, five (11.6%) were diagnosed with FPIES; all cases were severe. In the FPIES group, the median age at onset and tolerance was 84 days and 37.5 months, respectively. Causative foods were cow’s milk formula and wheat. The surgical history of colostomy was significantly higher in the FPIES group than in the non-FPIES group. A colostomy was performed in two children in the FPIES group, both of whom had the most severe symptoms of FPIES, including severe dehydration and metabolic acidosis. The surgical history of colostomy and postoperative nutrition of formula milk feeding may have led to the onset of FPIES. Therefore, an amino acid-based formula should be considered for children who undergo gastrointestinal surgeries, especially colostomy in neonates or early infants. When an acute gastrointestinal disease is suspected in children with DS, FPIES should be considered. This may prevent unnecessary tests and invasive treatments.     

The exposome paradigm to predict environmental health in terms of systemic homeostasis and resource balance based on NMR data science

The environment, from microbial ecosystems to recycled resources, fluctuates dynamically due to many physical, chemical and biological factors, the profile of which reflects changes in overall state, such as environmental illness caused by a collapse of homeostasis. To evaluate and predict environmental health in terms of systemic homeostasis and resource balance, a comprehensive understanding of these factors requires an approach based on the “exposome paradigm”, namely the totality of exposure to all substances. Furthermore, in considering sustainable development to meet global population growth, it is important to gain an understanding of both the circulation of biological resources and waste recycling in human society. From this perspective, natural environment, agriculture, aquaculture, wastewater treatment in industry, biomass degradation and biodegradable materials design are at the forefront of current research. In this respect, nuclear magnetic resonance (NMR) offers tremendous advantages in the analysis of samples of molecular complexity, such as crude bio-extracts, intact cells and tissues, fibres, foods, feeds, fertilizers and environmental samples. Here we outline examples to promote an understanding of recent applications of solution-state, solid-state, time-domain NMR and magnetic resonance imaging (MRI) to the complex evaluation of organisms, materials and the environment. We also describe useful databases and informatics tools, as well as machine learning techniques for NMR analysis, demonstrating that NMR data science can be used to evaluate the exposome in both the natural environment and human society towards a sustainable future.

From the environmental samples, such as waters, soils, as well as microbiome and biome, NMR data science can evaluate the exposome, namely the totality of exposure to physical/chemical/biological factors from natural environment and human society     

An Autopsy Case of Fulminant,Suppurative Bacterial Myocarditis Caused by Group B Streptococcus

A 61-year-old woman was admitted to our hospital with a fever, nausea, diarrhea, and back pain. Her condition rapidly deteriorated, and she was transferred to the intensive-care unit for mechanical circulatory support and antibiotics, but she died 40 hours after admission. Autopsy findings showed necrotic and suppurative myocardial changes due to group B Streptococcus (GBS). To date, only one case of bacterial myocarditis caused by GBS has been reported. We herein report a case of GBS myocarditis, the etiology of which is poorly understood due to the limited number of cases. Bacterial myocarditis should be considered in patients with sepsis and myocardial dysfunction.     

Twin anemia‐polycythemia sequence with suspected cardiac dysfunction

We present a case of twin anemia‐polycythemia sequence diagnosed postnatally with suspected chronic stress on the heart in the donor twin.