A5044572630- Metabolism and Genetic Disorders
- Vascular Malformations and Hemangiomas
- NF-κB Signaling Pathways
- RNA modifications and cancer
- Vascular Tumors and Angiosarcomas
- Diet and metabolism studies
- Prostate Cancer Treatment and Research
- Mitochondrial Function and Pathology
- interferon and immune responses
- Platelet Disorders and Treatments
- Immunodeficiency and Autoimmune Disorders
- Histiocytic Disorders and Treatments
- Immune Response and Inflammation
- Vascular Malformations Diagnosis and Treatment
- Connective tissue disorders research
- Teleoperation and Haptic Systems
- Thyroid Cancer Diagnosis and Treatment
- Surgical Simulation and Training
- Streptococcal Infections and Treatments
- Cancer, Lipids, and Metabolism
- RNA Research and Splicing
- Thyroid Disorders and Treatments
- Facial Nerve Paralysis Treatment and Research
- Bladder and Urothelial Cancer Treatments
- Renal Transplantation Outcomes and Treatments
Kanazawa University
2024-2025
Gifu University
2013-2024
Gifu University Hospital
2020-2024
Ishikawa Prefectural Central Hospital
2022
University of Toyama
2018
Pediatrics and Genetics
2016-2017
Kumamoto University Hospital
1979
Castration-resistant prostate cancer (CRPC) represents a significant difficulty in oncology, with limited treatment options and decreasing survival rates. The comprehensive genomic profiling (CGP) test has appeared as promising tool for personalizing according to the genetic characteristics of tumors. In Japan, incidence (PC) sharply increased, making it crucial investigate effective therapies informed by data. This study retrospectively analyzed data from 30 patients who underwent CGP at...
Pseudomyogenic hemangioendothelioma (PMH) is a recently described vascular neoplasm that occurs most commonly in the soft tissue of distal extremities young adults. Metastatic PMH can be fatal and there are no effective medications. We describe case 15-year-old boy with metastatic PMH, who responded to treatment everolimus, mammalian target rapamycin inhibitor. Immunohistochemistry showed was expressed biopsy specimens, which may explain reduction tumor size following treatment.
Medical education has a strong need for palpation training. Haptic sense is indispensable the detection of subsurface tumor. A virtual reality (VR) training breast simulation was created utilizing newly designed multi-fingered haptic interface robot (HIRO). The allows user to perform palpation. realistic model developed and physically based modeling achieved by using finite element method (FEM) that provides correct reaction forces deformations deformable object. VR medical application...
Propranolol has recently been shown to be highly effective for infantile hemangioma (IH), but the mechanism of action propranolol and usefulness measurement vascular endothelial growth factor (VEGF) remain poorly understood. The aim this study was therefore determine efficacy treatment evaluate changes in plasma VEGF IH patients who underwent treatment.The group consisted 35 children with IH. Oral give at a dose 2.0 mg/kg/day divided three doses. Outcome assessed using visual analog scale...
Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is an exudative enteropathy resulting from morphologic abnormalities in the lymphatics. In this article, we describe a 12-year-old boy with PIL that led to protein-losing characterized by diarrhea, hypoalbuminemia associated edema (serum albumin level: 1.0 g/dL), and hypogammaglobulinemia IgG 144 mg/dL). Severe hypoalbuminemia, electrolyte abnormalities, tetany persisted despite low-fat diet propranolol. Everolimus...
Kasabach-Merritt phenomenon (KMP) is a life-threatening consumptive coagulopathy associated with underlying kaposiform hemangioendothelioma (KHE) in infancy. We describe the case of 3-month-old girl KHE complicated by KMP who responded dramatically to treatment everolimus, mechanistic target rapamycin (mTOR) inhibitor. Immunohistochemical expression mTOR was found biopsy specimens, which may explain improvement and reduction tumor size inhibitor treatment. This effective use everolimus shed...
Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges diagnosis beta-ketothiolase have been encountered: atypical presentations reported some other disorders, such succinyl-CoA:3-oxoacid CoA transferase 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic clinical and/or...
Multi-fingers haptic device that enables multiple point of contact is essential for medical education. There a strong need palpation training in the detection subsurface tumors. A virtual reality system utilizing new developed interface HIRO was created to address this need. The simulation considers fingers and interaction between forces exerted by each finger. physical-based model using FEM with elementary displacement technique used simulate real breast existence tumors calculate reaction...
The molecular basis of simultaneous two-exon skipping induced by a splice-site mutation has yet to be completely explained. splice donor site c.1248+5g>a (IVS13) the OXCT1 gene resulted predominantly in exons 12 and 13 fibroblasts from patient (GS23) with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. We compared heteronuclear RNA (hnRNA) intermediates between controls' GS23's fibroblasts. Our strategy was use RT-PCR hnRNA detect presence or absence spliced exon clusters (SECRIs)...
A high dose intravenous immunoglobulin (IVIG) therapy is used in the treatment of a wide range autoimmune disorders. However, mechanisms action IVIGs remain poorly understood. To analyse effects on (Ig) production B cells, lymphoblastoid cell lines transformed by Epstein-Barr virus (LCLs) were investigated. The productions IgG or IgM LCLs dose-dependently suppressed polyethylene glycol (PEG)-treated IVIG pH 4-treated though not only slightly pepsin-treated IVIG. suppression was blocked...
Hashimoto's thyroiditis (HT) is an autoimmune disease thought to involve a combination of genetic and environmental factors, but its detailed pathogenesis unknown. We present family with haploinsufficiency the gene encoding tumor necrosis factor α-induced protein 3 (TNFAIP3, also known as A20) show link HT in three-generation pedigree. Currently, TNFAIP3 polymorphisms are associated several diseases, A20 was recently observed families early-onset autoinflammatory resembling Behçet's disease....
Background: The treatment strategy for metastatic castration-sensitive prostate cancer (mCSPC) has changed significantly in recent years. Based on various guidelines, an upfront androgen receptor signaling inhibitor (ARSI) is the first choice, but patients of Asian descent, including Japanese patients, there are a certain number cases which deprivation therapy (ADT) and CAB more effective. If can be identified who show marked response to ADT within 12 weeks after initiation ADT, inclusion...
Carnitine palmitoyltransferase 2 (CPT2) deficiency is one of the most common mitochondrial beta-oxidation defects. A female patient with an infantile form CPT2 first presented as having a Reye-like syndrome hypoglycemic convulsions. Oral L-carnitine supplementation was administered since serum free carnitine level very low (less than 10 μmol/L), indicating secondary deficiency. Her and urinary acylcarnitine profiles were analyzed successively to evaluate time-course effects supplementation....
Hemophilic pseudotumor (HP) is rare, seen in 1-2% of patients with hemophilia, and extremely uncommon the mandible. A 6-year-old boy moderate hemophilia presented to our hospital left mandibular swelling. Based on clinical radiological findings, a tentative diagnosis HP was made. After factor VIII administration, lesion curetted confirmed histopathology. The patient treated twice-weekly until had completely resolved bone regenerated at 1 year. best treatment for not established; however,...
Complement system dysregulation, such as complement Factor H (CFH) autoantibodies and deletions in CFH-related (CFHR) genes 3 1, might cause transplant-associated thrombotic microangiopathy (TA-TMA). The use of eculizumab, a terminal inhibitor, could be targeted therapy for TA-TMA. We report 1-year-old girl who developed TA-TMA, just after autologous peripheral blood stem cell transplantation neuroblastoma therapy. Eculizumab improved Investigation the alternative pathway showed heterozygous...
Gorham-Stout disease (GSD) is a rare condition in which spontaneous, progressive resorption of bone occurs. There are no previous reports patients with fatal progression GSD skull base osteomyelitis (SBO) and lateral medullary syndrome (LMS). We present the case 27-year-old man diagnosed involvement maxillofacial bones base. The patient developed SBO; LMS resulted from osteolysis, died associated brainstem stroke. Careful follow-up special emphasis on early detection intracranial...