A5054480634- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Autoimmune and Inflammatory Disorders Research
- RNA Research and Splicing
- Pleural and Pulmonary Diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Abdominal vascular conditions and treatments
- Parvovirus B19 Infection Studies
- Stroke Rehabilitation and Recovery
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Neuropharmacology Research
- Pneumothorax, Barotrauma, Emphysema
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- Forensic and Genetic Research
- Vascular anomalies and interventions
- Abdominal Surgery and Complications
- Trace Elements in Health
- Blood disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Child Nutrition and Feeding Issues
- Cystic Fibrosis Research Advances
- Biochemical and Molecular Research
- RNA modifications and cancer
- Intensive Care Unit Cognitive Disorders
Kyoto University
2006-2024
Oita University
2021-2024
Japanese Red Cross Society Wakayama Medical Center
2024
Abstract Background Recently, rehabilitation robots are expected to improve the gait of cerebral palsy (CP) children. However, only few previous studies have reported kinematic and kinetic changes by using wearable exoskeleton robots. The aim this study was investigate change in parameters CP children training with robot-assisted training. Methods 10 spastic Gross Motor Function Classification Scale levels I-III completed a sham-controlled crossover randomized trial. Robot-assisted (RAGT)...
Abstract Membrane fusion is mediated by soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins. During neurotransmitter exocytosis, SNARE proteins on a synaptic vesicle and the target membrane form complex, resulting in release. (NSF), homohexameric ATPase, disassembles allowing individual to be recycled. Recently, association between pathogenic NSF variants developmental epileptic encephalopathy (DEE) was reported; however, molecular pathomechanism of...
Abstract Nuclear factor I A ( NFIA ) is a transcription that belongs to the NFI family. Truncating variants or intragenic deletion of gene are known cause human neurodevelopmental disorder as ‐related disorder, but no patient heterozygous for missense mutation has been reported. Here, we document two unrelated patients with typical phenotypic features who shared variant p.Lys125Glu (K125E) in gene. Patient 1 was 6‐year‐old female global developmental delay, corpus callosum anomaly,...
Abstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele melanoma antigen L2 ( MAGEL2 ), one five protein‐coding genes within Prader‐Willi (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures autism. Patients show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in...
The causes of intellectual disability (ID) are varied, with as many 1,400 causative genes. We attempted to identify the gene in a patient long-standing undiagnosed ID.
SINE-VNTR-Alu (SVA) retrotransposons move from one genomic location to another in a 'copy-and-paste' manner. They continue actively and cause monogenic diseases through various mechanisms. Currently, disease-causing SVA are classified into human-specific young SVA_E or SVA_F subfamilies. In this study, we identified an evolutionarily old SVA_D retrotransposon as novel of occipital horn syndrome (OHS). OHS is X-linked, copper metabolism disorder caused by dysfunction the transporter, ATP7A.
Background/Objectives: The prevalence of bronchiectasis is increasing globally, and early detection using chest imaging has been encouraged to improve its prognosis. However, the sensitivity a X-ray as screening tool remains unclear. This study examined features predictive bronchiectasis. Methods: We retrospectively reviewed X-rays patients with diagnosed high-resolution computed tomography who visited our institute from January 2013 March 2020. Patients cardiac pacemakers, lung cancer,...
Abstract Background Re-expansion pulmonary edema is an uncommon complication following drainage of a pneumothorax or pleural effusion. While noted to complicate COVID-19 patients, no case developing re-expansion has been reported. Case representation A man in his early 40 s without smoking history and underlying diseases suddenly complained left chest pain with dyspnea 1 day after being diagnosed COVID-19. Chest X-ray revealed the lung field, tube was inserted into intrathoracic space...
A ranula is a pseudocyst that originates from the sublingual gland after trauma. Acute cases of ranulas progress rapidly and cause respiratory distress are rare. Holoprosencephaly complex brain malformation caused by incomplete cleavage prosencephalon. Children with holoprosencephaly may experience upper airway obstruction due to associated dentoalveolar malformations oromotor dysfunctions. We present case an eight-year-old female patient plunging manifested as acute course difficult...