![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessEfficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...
-
Article
Open AccessLong-term outcomes after surgery to prevent aspiration for patients with amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons selectively. In particular, weakness in respiratory and swallowing muscles occasionally causes aspirati...
-
Article
Development of laser ablation absorption spectroscopy for nuclear fuel materials: plume expansion behavior for refractory metals observed by laser-induced fluorescence imaging spectroscopy
The dynamic behavior of an ablation plume in low pressure rare gas ambient was investigated with laser-induced fluorescence imaging spectroscopy for three refractory metals, i.e. titanium, zirconium and hafniu...
-
Article
Open AccessThe updated retrospective questionnaire study of sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, ...
-
Article
Open AccessInterstitial pneumonia and other adverse events in riluzole-administered amyotrophic lateral sclerosis patients: a retrospective observational study
Riluzole is the only approved oral drug for amyotrophic lateral sclerosis (ALS). We performed a retrospective study including ALS patients treated with riluzole, focusing on adverse events.
-
Article
Open AccessPhase I clinical trial results of aceneuramic acid for GNE myopathy in Japan
GNE myopathy (distal myopathy with rimmed vacuoles) is a rare intractable muscle disease caused by the mutations in GNE gene, with no therapeutic agents at present. The mutations in GNE (UDP-N-acetylglucosamine 2...
-
Article
Open AccessFatal Fournier’s gangrene caused by Clostridium ramosum in a patient with central diabetes insipidus and insulin-dependent diabetes mellitus: a case report
Clostridium ramosum is a generally non-pathogenic enteric anaerobe, and Fournier’s gangrene is a rare necrotizing soft tissue infection with male predisposition affecting the perineum and the genital area. We rep...
-
Article
Open AccessPossible multiple system atrophy with predominant parkinsonism in a patient with chronic schizophrenia: a case report
Multiple system atrophy (MSA) is an adult-onset, rare, and progressive neurodegenerative disorder characterized by a varying combination of autonomic failure, cerebellar ataxia, and parkinsonism. MSA is catego...
-
Article
Open AccessMulticenter questionnaire survey for sporadic inclusion body myositis in Japan
Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiolo...
-
Article
Open AccessThoracic endovascular aortic repair for complicated chronic type B aortic dissection in a patient on hemodialysis with recurrent ischemic colitis
We present a successful case of thoracic endovascular aortic repair (TEVAR) for chronic Stanford type B aortic dissection (B-AD) with recurrent ischemic colitis. The patient was a 56-year-old woman with abdomi...
-
Article
A case of steroid-responsive MADSAM with late appearance of a partial conduction block in the forearm
-
Article
Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation
-
Article
Changes in masticatory muscle activity during maximum voluntary clenching, mealtimes and sleep after surgical correction of mandibular prognathism
This case report is designed to present changes in masticatory muscle activity after surgical correction of mandibular prognathism during maximum voluntary clenching (MVC), mealtimes and sleep in routine daily...
-
Article
Multiple aneurysm repair: hybrid approach to chronic dissection around visceral branches
The present case report details our experience with the hybrid approach for multiple aneurysms in the aortic arch, thoracoabdominal aorta, and around the aortic bifurcation. Total arch replacement for the arch...
-
Article
Successful endovascular repair in two cases of graft limb occlusion after endovascular aneurysm repair for abdominal aortic aneurysms
Among 148 abdominal aortic aneurysm patients who underwent endovascular aneurysm repair at our institution, two cases of graft limb occlusion (GLO) were identified and successfully treated with endovascular re...
-
Article
Endovascular stent-graft repair for abdominal aortic aneurysm in a patient with cardiac and renal dysfunction
This case report details our experience with endovascular stent-graft repair for an abdominal aortic aneurysm (AAA) in a patient who was previously treated by left ventricular remodeling for dilated cardiomyop...
-
Article
Asymmetric interhemispheric sigma waves during all-night sleep in humans
There are some studies that have examined the asymmetry of brain function, such as that reflected in electroencephalogram (EEG) activity, during sleep, however, the results are not consistent. To clarify the a...
-
Article
Allograft pulmonary artery root replacement for refractory isolated pulmonic valve endocarditis
A 45-year-old diabetic woman was subjected to percutaneous cardiopulmonary support for a life-threatening pulmonary embolism. One month later, she developed isolated pulmonic valve endocarditis. The causative...