A5085224074- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Glycogen Storage Diseases and Myoclonus
- Genetic Syndromes and Imprinting
- Trypanosoma species research and implications
- Glycosylation and Glycoproteins Research
- Total Knee Arthroplasty Outcomes
- Studies on Chitinases and Chitosanases
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Musculoskeletal pain and rehabilitation
- Pancreatic function and diabetes
- RNA regulation and disease
- Cellular transport and secretion
- Dysphagia Assessment and Management
- Pineapple and bromelain studies
- Neonatal Respiratory Health Research
- Structural Engineering and Vibration Analysis
- Parasitic Diseases Research and Treatment
- Advanced Glycation End Products research
- melanin and skin pigmentation
- Wnt/β-catenin signaling in development and cancer
- Endoplasmic Reticulum Stress and Disease
- Spinal Cord Injury Research
- Genomic variations and chromosomal abnormalities
Hiroshima University
2022-2025
Saitama Medical University
2021-2025
Social Insurance Saitama Chuo Hospital
2021-2025
Kinki Central Hospital
2003-2005
Osaka University
1987-1997
University of North Carolina at Chapel Hill
1991-1994
Kirin (Japan)
1994
Osaka University Hospital
1989-1990
Fukushima Medical University
1987
Abstract: The cDNA for a murine galactocerebrosidase was isolated from testis library on the basis of its homology with human and PCR method used to clone 5′ end. It has 2,278‐nucleotide sequence including 2,004‐nucleotide open reading frame, which encodes 668 amino acid residues. identity between sequences very high, being calculated be 84%. Sequencing liver twitcher mouse revealed nonsense mutation at codon 339 (TGG → TGA). most abundant mRNA gave 3.6‐kb band, not detected in mice. This...
Sotos syndrome (SoS) is an autosomal dominant overgrowth with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency the NSD1 gene major cause SoS, submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) our patients examined. Since first report, additional 70 SoS cases consisting 53 Japanese 17 non-Japanese have been analyzed. 50 microdeletions (45%) 16 point mutations (14%) among...
The impact of interventions based on a biopsychosocial (BPS) model, including components related to sleep and nutrition, pain after total knee arthroplasty (TKA) remains unclear. purpose this study was develop patient education (PE) the BPS model clarify its effects TKA. Participants were 121 patients who had undergone unilateral TKA for osteoarthritis. Patients received usual physiotherapy (control group, n = 71) or plus PE (PE 50) identified. primary outcome change in Knee injury...
Purpose:We tested the hypothesis that Sotos syndrome (SoS) due to common deletion is a contiguous gene incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and genotype at functional polymorphism of was investigated.MethodsA total 21 patients including those with deletion, smaller deletions, point mutations, four control individuals were analyzed. We examined in controls, analyzed their 46C/T using direct DNA sequencing.ResultsAmong 10...
Abstract Surgical site infection (SSI) is a serious complication following spine surgery and correlated with significant morbidities, poor clinical outcomes, increased healthcare costs. Accurately identifying risk factors can help develop strategies to reduce this devastating consequence; however, few multicentre studies have investigated for SSI posterior cervical surgeries. Between July 2010 June 2015, we performed an observational cohort study on deep in adult patients who underwent at 10...
Abstract Introduction/Aims Motor function recovery is frequently poor after peripheral nerve injury. The effect of different numbers crushes and exercise on motor unknown. We aimed to examine how the rat sciatic affects muscle reinnervation plasticity spinal circuits intervention. Methods Single multiple crush models with were created in rats. Treadmill was performed at 10 m/min for 60 min, five times a week. Muscle synaptic changes L4‐5 neurons examined by immunofluorescence staining....
One of the two mutations responsible for classical infantile Jewish form Tay-Sachs disease is a four-base insertion in exon 11 beta-hexosaminidase alpha subunit gene. The gene known to be transcribed normally, but mRNA essentially undetectable. It not clear why such relatively minor abnormality results complete failure generate stable mRNA. was introduced into normal cDNA by site-directed mutagenesis. When COS-1 cells were transfected with resultant mutant cDNA, it generated and truncated,...
Abstract Abnormality in the β‐hexosaminidase α gene underlying clinical phenotype of a Lebanese patient with juvenile form Tay‐Sachs disease has been studied. Clinical features were progressive spasticity, ataxia, and cognitive decline. The protein coding sequence several α‐chain complementary DNAs isolated by polymerase chain reaction was completely normal except for G‐to‐A transition at nucleotide position 1511 within exon 13, which resulted substitution arginine 504 (CGC) histidine (CAC)....
A unique family is presented which consists of a patient with the juvenile muscular dystrophy form glycogenosis type II and four healthy individuals, both parents sisters, low acid ***α‐glucosidase activity. It was almost impossible to distinguish homozygote from heterozygous members by lymphocyte assay alone. In cultured skin fibroblasts, α‐glucosidase activity measured synthetic substrate less than 1% normal mean value in about 15% parents. The toward glycogen not detectable 30% These...
Abstract Study Design: single-center retrospective cohort study. Objectives Dysphagia is a common secondary complication of cervical spinal-cord injury (CSCI); however, its long-term prognosis remains unknown. We aimed to clarify the characteristics CSCI-related dysphagia using fiberoptic endoscopic evaluation swallowing (FEES), and identify factors associated with acquisition full oral intake during hospitalization. Setting: An academic medical center in Japan. Methods Data patients were...
Background/Purpose: The purpose of this study was to determine the short-term minimal clinically important differences (MCIDs) in Knee injury and Osteoarthritis Outcome Score (KOOS) after total knee arthroplasty (TKA) using anchor method. Methods: Scores for each KOOS subscale were calculated preoperatively 3 6 months postoperatively create receiver operating characteristic curves, MCIDs calculated. Results: at TKA symptoms, 10 pain, activities daily living (ADL), 8 sport/recreation, quality...