A5101830929- Lysosomal Storage Disorders Research
- Infectious Encephalopathies and Encephalitis
- Epilepsy research and treatment
- Food Allergy and Anaphylaxis Research
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Diet and metabolism studies
- Neurological disorders and treatments
- Biofield Effects and Biophysics
- Congenital heart defects research
- Palliative Care and End-of-Life Issues
- Cardiomyopathy and Myosin Studies
- Vascular anomalies and interventions
- Congenital Anomalies and Fetal Surgery
- Spinal Dysraphism and Malformations
- Neurogenetic and Muscular Disorders Research
- Biomedical Research and Pathophysiology
- Cancer survivorship and care
- Abdominal vascular conditions and treatments
- Methemoglobinemia and Tumor Lysis Syndrome
- Kawasaki Disease and Coronary Complications
- Trypanosoma species research and implications
- Neonatal and fetal brain pathology
- Bacterial Infections and Vaccines
Shiga Medical Center for Children
2012-2017
Red Cross Hospital
2011
Nagahama City Hospital
2011
Shiga University of Medical Science
2007
University of Tsukuba
1995
Osaka Medical Center for Cancer and Cardiovascular Diseases
1982
Osaka University
1980
Abstract Objective Gaucher disease (GD) is a lysosomal storage characterized by deficiency of glucocerebrosidase. Although enzyme‐replacement and substrate‐reduction therapies are available, their efficacies in treating the neurological manifestations GD negligible. Pharmacological chaperone therapy hypothesized to offer new strategy for this disease. Specifically, ambroxol, commonly used expectorant, has been proposed as candidate pharmacological chaperone. The purpose study was evaluate...
(1980). A New Abnormal Fetal Hemoglobin, Hb FM-Osaka (α2γ263His→Tyr) Hemoglobin: Vol. 4, No. 3-4, pp. 447-448.
The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment difficult in uncooperative patients. Chromatic pupillometry a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic could be useful for neurological evaluations GD. In our GD patients, red light-induced PLR was markedly impaired, whereas blue relatively spared. addition, patients non-neuronopathic...
Febrile infection-related epilepsy syndrome (FIRES) is a severe epileptic that manifests with refractory seizures or status epilepticus in previously healthy children after banal febrile illness. The neuroimaging findings the acute phase of FIRES are nonspecific normal. We report case 7-year-old boy who presented reversible lesion splenium corpus callosum on brain magnetic resonance imaging (MRI). patient developed clusters clonic deviation eyes 3-day history fever. A splenial was observed...
Meckel's diverticulum (MD) is the most prevalent congenital anomaly of gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but poor prognosis lack consensus regarding management for neonates has meant that precise information on clinical manifestations in infants children MD lacking. We describe cases three who developed symptomatic MD. Intussusception was diagnosed Patient 1, intestinal volvulus 2, bleeding 3. All patients underwent...
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging heart failure stroke, life-threatening arrhythmias, sudden death. The frequency in children has increased longer clinical courses. About 80% patients trisomy 13 a congenital cardiac abnormality, but description lacking because its poor...
Field desorption mass spectra of peptides human β globin digested by thermolysin and staphylococcal protease were investigated. The sites the cleavages deduced from in good agreement with those estimated previous reports.