A5044342021- Cancer Genomics and Diagnostics
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
- Cancer Mechanisms and Therapy
- Hepatitis B Virus Studies
- Hepatocellular Carcinoma Treatment and Prognosis
- Food Quality and Safety Studies
- Birth, Development, and Health
- Connective tissue disorders research
- Craniofacial Disorders and Treatments
- Neonatal Health and Biochemistry
- Obesity, Physical Activity, Diet
- Genomics and Rare Diseases
- Congenital Diaphragmatic Hernia Studies
- Dermatological and Skeletal Disorders
- Cleft Lip and Palate Research
- Fermentation and Sensory Analysis
- Bone Tumor Diagnosis and Treatments
- Sarcoma Diagnosis and Treatment
- Microbial Metabolism and Applications
- Oral and Maxillofacial Pathology
- Epigenetics and DNA Methylation
- Diet and metabolism studies
- Food composition and properties
Tokyo Metropolitan Ohtsuka Hospital
2017-2022
Nihon University
2022
National Cancer Centre Japan
2018
Abstract The accumulations of different types genetic alterations such as nucleotide substitutions, structural rearrangements and viral genome integrations epigenetic contribute to carcinogenesis. Here, we report correlation between the occurrence features aberrations by whole-genome bisulfite, shotgun, long-read, virus capture sequencing 373 liver cancers. Somatic substitutions rearrangement breakpoints are enriched in tumor-specific hypo-methylated regions with inactive chromatin marks...
Mucinous gastric carcinoma (MGC) is a unique subtype of cancer with poor survival outcome. Comprehensive molecular profiles and putative therapeutic targets MGC remain undetermined. We subjected 16 tumour-normal tissue pairs to whole-exome sequencing (WES) an expanded set 52 subsequent targeted sequencing. The latter focused on 114 genes identified by WES. Twenty-two histologically differentiated MGCs (D-MGCs) 46 undifferentiated (U-MGCs) were analysed. Chromatin modifier genes, including...
ObjectiveTo delineate the diagnostic efficacy of medical exome, whole and genome sequencing according to primary symptoms, contribution small copy number variations, impact molecular diagnosis on clinical management.Study designThis was a prospective study 17 tertiary care centers in Japan, conducted between April 2019 March 2021. Critically ill neonates infants less than 6 months age were recruited neonatal intensive units outpatient clinics. The patients underwent or as first tier testing....
Abstract Recurrent H3F3A and IDH2 mutations have been reported in giant cell tumor of bone (GCTB). However, the incidences varied, other molecular genetic alterations not identified due to small number cases analyzed with comprehensive methods. Moreover, relative sensitivities Sanger sequencing next‐generation (NGS) for detection DNA extracted from archival formalin‐fixed paraffin‐embedded (FFPE) samples clinical diagnosis assessed. To address these issues, we conducted whole‐exome 7 GCTBs...
Adiposity rebound (AR), which is defined as a situation in the body mass index (BMI) starts to increase after infancy, predictive marker of future development type 2 diabetes. The patient was 20-year-old male. He born at 28 gestational weeks with birthweight 642 g (-3.20 standard deviation, small-for-gestational age [SGA]). AR during early childhood or obesity later not observed. At onset diabetes (20 years age), his BMI, fat percentage, and were within normal ranges (20.4, 18.4% 10.8 kg,...
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, molecular proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, hypercalciuria, associated renal calcification. Renal acidosis was not present either patient. DNA mutation analysis for Dent’s disease, performed patient 1,...
This study aimed to devise a novel physique index and investigate its accuracy in identifying newborns with skeletal dysplasia comparison head circumference (HC)/height (HT) ratio. The birth weight (W), HT, HC at of 1500 were retrospectively collected. linear regression equations coefficients determination (R2) determined. formulated equation was corrected by the mean for gestational age (Wcorr) as screening dysplasia. assessed using receiver operating characteristic (ROC) curves 11 fetal...
Atelosteogenesis is a chondrodysplasia characterized by severe short-limbed dwarfism with multi-joint dislocation and specific facial features caused mutations in the gene encoding filamin B. We report case of atelosteogenesis type III large bladder stone proteinuria. He had hematuria at age 3 years, which was found to be due kidney stones hypercalciuria. Hypercalciuria thought excessive intake protein sodium addition immobilization from original disease. Kidney formed, moved after patient...
Properties of two cultivars rice, “Okuhomare” and “Gohyakumangoku” for sake brewing were examined. These cultivated in Ono city Fukui prefecture. Brown rice was higher the ratio Shinpaku (kernes with a white haze), weight thousand kernels, greater length, width thickness. In digesting test, had almost same value density (Be) direct reducing sugar, but amino acidity because crude protein content.In polishing process, more breakable mill high electric current long time than “Gohyakumangoku”.In...
The difference in properties of two cultivars rice for Sake brewing, “Okuhomare” and “Gohyakumangoku”, produced by 41 farmers Ono city Fukui prefecture was studied. due to recognized largely the ratio whole rice, Shinpaku (white center), weight 1000 grains, digestibility (expressed terms density (Be), formol nitrogen, UV absorption at 260 280 nm enzyme digest), crude protein content brown polished four minerals (especially potassium rice).