A5001474180- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- ATP Synthase and ATPases Research
- Biomedical Research and Pathophysiology
- Complementary and Alternative Medicine Studies
- Food Allergy and Anaphylaxis Research
- Cytomegalovirus and herpesvirus research
- Organ Transplantation Techniques and Outcomes
- Eosinophilic Esophagitis
- Folate and B Vitamins Research
- Clinical Nutrition and Gastroenterology
- Biochemical and Molecular Research
- Diet and metabolism studies
- Public Health in Brazil
- Muscle metabolism and nutrition
- Urinary Tract Infections Management
- Pancreatic function and diabetes
- Viral gastroenteritis research and epidemiology
- Alkaline Phosphatase Research Studies
- Diabetes Management and Research
- Diabetes and associated disorders
- Child Nutrition and Feeding Issues
- Birth, Development, and Health
- Hepatitis Viruses Studies and Epidemiology
Nihon University
2010-2024
Tokyo Metropolitan Hiroo Hospital
2023-2024
Gifu Pharmaceutical University
2023
Chiba Hospital
2017-2020
Mitsuwadai General Hospital
2016
Mitsui (Japan)
2016
Universidade Federal do Ceará
2016
Tokyo Gakugei University
2006
Abstract Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It clinically diagnosed by typical manifestations characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS essential for deeper understanding the disease, which may lead to development new therapies cure. The aim this study was evaluate clinical validity various diagnostic tools in...
Abstract Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition patients crucial for evaluating therapeutics. As data are scarce Japan, we analysed rate Japanese that diagnosed since 2007. Data from 166 with 2007 to 2017 were reviewed. Patients' present status, method ventilation feeding, degree disability as April 2018 was analysed. Overall, 124 (74.7%) living, 40 (24.1%)...
Macrophages produce many inflammatory mediators, such as tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6), in innate immune responses. However, excess production of these mediators by activated macrophages triggers deleterious effects, leading to disorders associated with inflammation. Royal jelly (RJ), a milky-white substance secreted worker bees, contains unique fatty acids, including 10-hydroxy-2-decenoic acid (10H2DA) sebacic (SA). 10H2DA has been reported have various biological...
Congenital metabolic diseases are a group of hereditary disorders caused by the deficiency single specific enzyme activity. Without appropriate therapy, affected patients suffer severe neurologic disability and eventual death. The current mainstays management attempt to slow disease progression, but not curative. Several these have demonstrated significant benefits from liver transplantation; however, this approach is limited morbidity associated with invasive procedure shortage donor...
Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts the brain. Atypical morphology rarely seen these cysts. Here, we report a case of neonatal lethal IBA57 gene mutation. We have, for first time, described subependymal pseudocyst (SEPC) fluctuating membrane. Our findings suggest that SEPCs membranes can be potential diagnostic indicator disease.
Glutaric acidemia type 1 is a rare autosomal recessive disease caused by deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric 1. However, there only one report severe acute after minor head trauma patient under guideline-recommended treatment. We second case life-threatening This was previously diagnosed newborn screening, and treatment began at 25 days age. Early diagnosis produce better outcomes for 1, although the...
We examined the correlation between plasma glucose (PG) and hemoglobin A1c (HbA1c) to evaluate usefulness limitations of applying new diagnostic criteria for diabetes Japanese pediatric patients. Data were collected from 298 school children who took an oral tolerance test (OGTT) at a school-based urinary screening program in Tokyo Metropolitan Area 1988 2009. Mean (SD) age was 11.9 (2.5) years. Male-to-female ratio 1:1.1. Children diagnosed with renal glucosuria (n=146), mellitus (n=133), or...
Abstract Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential deceased donor liver transplantation for . However, usefulness LDLT unknown. We report a case classical , which was successfully managed by from patient's father at 1 year age. Abnormal brain findings, were cured with effective treatment, gradually disappeared after The patient then developed normally. Findings this...
Carnitine is a water-soluble amino acid derivative required for β-oxidation of long-chain fatty acids.In carnitine cycle abnormalities and low states, inhibited during fasting, resulting in hypoglycemia.Pivalic substance used prodrugs to increase absorption parent drugs, antibiotics containing pivalic are frequently as wide spectrum pediatric patients Japan.Pivalic released after conjugated with free form pivaloylcarnitine, which then excreted urine.As consequence, long-term administration...
Abstract A 7‐month‐old girl was brought to hospital due vomiting. Upon admission, she in a convulsive state and stupor with extremely low blood glucose. Head computed tomography showed brain edema, comprehensive treatment for acute encephalopathy initiated immediately. Severe hypoglycemia, metabolic acidosis, elevation of ammonia serum transaminases creatine kinase suggested decompensation. Infusion high‐glucose solution containing vitamins, biotin, l ‐carnitine resolved the crisis quickly,...
Abstract The catalytic activities for N2O decomposition and selective reduction with methane were studied on Fe-MCM-41 prepared by direct hydrothermal synthesis (DHT) template ion exchange (TIE) methods. Fe-MCM-41-DHT showed higher activity than those TIE impregnation high of is caused the formation highly isolated tetrahedrally coordinated iron-oxo species.
Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is an inherited metabolic disease characterized by defects of bone tooth mineralization, which caused loss-of-function mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP). In last three decades, several studies have focused on genotype-phenotype correlation hypophosphatasia (HPP). particular, functional tests based vitro analysis for residual enzymatic activities revealed a clear but imperfect...
Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis delivery. There still only a few case reports maternal MSUD globally, and we the first to report successful perinatal management woman classical in Japan. A healthy baby was delivered by scheduled cesarean section despite presence several uterine fibroids. With precise diet therapy accurate preparation, she completed postpartum period without decompensation. Although her...