A5048908662- Neonatal and fetal brain pathology
- Advanced Neuroimaging Techniques and Applications
- Fetal and Pediatric Neurological Disorders
- Neonatal Respiratory Health Research
- Respiratory Support and Mechanisms
- Genetic Syndromes and Imprinting
- Congenital Diaphragmatic Hernia Studies
- Congenital Heart Disease Studies
- Cerebral Palsy and Movement Disorders
- Genomics and Rare Diseases
- Traumatic Brain Injury and Neurovascular Disturbances
- Prenatal Screening and Diagnostics
- Genetic and rare skin diseases.
- Moyamoya disease diagnosis and treatment
- Pediatric Urology and Nephrology Studies
- Glioma Diagnosis and Treatment
- Genetic and Kidney Cyst Diseases
- Tuberous Sclerosis Complex Research
- Optical Imaging and Spectroscopy Techniques
- Alkaloids: synthesis and pharmacology
- Neurological diseases and metabolism
- Dermatologic Treatments and Research
- Electroconvulsive Therapy Studies
- Tumors and Oncological Cases
- Intracerebral and Subarachnoid Hemorrhage Research
Kyoto Prefectural University of Medicine
2016-2025
Hiroshima University
2024
Maizuru Municipal Hospital
2014
Kyoto University
2007-2009
Kohnan Hospital
2003
Meijo University
1991
Nagoya City University
1968
To investigate the role of CSF hypovolemia in spontaneous intracranial hypotension (SIH) syndrome because so-called SIH sometimes lacks hypotension.Ten women (aged from 28 to 49 years) with characteristic orthostatic headache without a previous history dural tear were investigated. In addition gadolinium (Gd)-enhanced brain MRI, spinal MRI and Gd enhancement was performed.Gd-enhanced demonstrated diffuse pachymeningeal all patients. Sagittal T2-weighted revealed variable amount extradural...
Background Acute respiratory failure (ARF) may occur in neonates. Chest radiography is commonly used to evaluate the severity of ARF; however, application quantitative scales clinical practice neonatal intensive care units uncommon. This study aimed assess usefulness two semi-quantitative radiographical scales, Brixia and radiographic assessment lung edema (RALE) scores, newborns weighing more than 1,500 g. Methods Newborns > g who received invasive support with arterial lines between...
Callosal injury in preterm infants is a key factor affecting neurodevelopmental outcome. We investigated the characteristics of corpus callosum (CC) without apparent white matter lesions. studied 58 divided into three groups 23-25, 26-29, and 30-33 wk GA. Diffusion tensor imaging (DTI) was obtained at term-equivalent age. The CC parcellated genu, body, isthmus, splenium. measured fractional anisotropy (FA) diffusion coefficient (ADC) each subdivision using tractography manual region interest...
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive disorders several distinguishable subtypes. Recently, WDR45 mutations were reported in patients β‐propeller protein‐associated neurodegeneration (BPAN), characterized by early intellectual disability followed delayed motor cognitive deterioration onset the second to third decade. BPAN has distinct magnetic resonance imaging (MRI) pattern showing deposition globus...
Although paternally expressed IGF2 is known to play a critical role in placental and body growth, only single mutation has been found IGF2. We identified, through whole-exome sequencing, de novo indel leading frameshift (NM_000612.5:c.110_117delinsAGGTAA, p.(Leu37Glnfs*31)) patient with Silver–Russell syndrome, ectrodactyly, undermasculinized genitalia, developmental delay, hypoplasia. Furthermore, we demonstrated that the resided on paternal allele by sequencing long PCR product harboring...
Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure dysmorphic features. Recently, pathogenic copy number variations (PCNVs) imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) maternal uniparental disomy chromosome 7 have been reported in patients with SRS phenotype. This study aimed to clarify frequency clinical features phenotype caused PCNVs.We performed array comparative genomic...
Abstract Background Very low birthweight infants (VLBWIs) often undergo chest radiographic examinations without standardization or objectivity. This study aimed to assess the association of two scores, Brixia and assessment lung edema (RALE), with oxygenation index (OI) in ventilated VLBWIs determine optimal cutoff values predict hypoxic respiratory severity. Methods who received invasive support arterial lines between January 2010 October 2023 were enrolled this ( n = 144). The correlation...
Abstract Background The process of birth causes stress for neonates, but additional stressors sick neonates are a matter concern. As analysis heart‐rate variability (HRV), which reflects autonomic activity, has demonstrated that low‐frequency (LF) activity overall high‐frequency (HF) parasympathetic and the LF/HF ratio sympathetic HRV been clinically applied as non‐invasive index physical stress. In this study, we evaluated whether is useful by analyzing it in comparison with their salivary...
Abstract Background Few studies have examined the effect of low‐grade intraventricular hemorrhage (IVH) on white matter in cerebellum and its association with neurodevelopment. We evaluated cerebellar at term‐equivalent age (TEA) preterm infants IVH. Furthermore, we assessed neurodevelopmental outcomes 3 years to examine influence IVH Methods Thirteen 26 without IVH, born <30 weeks’ postmenstrual (PMA), were enrolled this study. Diffusion tensor imaging (DTI) parameters, including...
Congenital heart disease (CHD) is common among patients with trisomy 18 (T18), but cardiac surgery has been rarely indicated for T18 due to their short life span. Although the therapeutic effects of aggressive interventions were recently demonstrated patients, subjects and factors examined varied, resulting in inconsistent findings. Therefore, remain unclear. We herein investigated outcomes palliative CHD increased pulmonary blood flow patients. 27 examined: 13 (48.1%) underwent 14 (51.9%)...
This paper describes a conceptual design of an advanced blanket using liquid lithium lead (Li <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">17</sub> Pb xmlns:xlink="http://www.w3.org/1999/xlink">83</sub> ) metal and high temperature material. Liquid is expected as material to solve some problems solid blankets be operated at above900 degree C. We examined feasible structure materials (the SiC/SiC compostite, reduced activation ferritic...
Infantile hepatic hemangioendothelioma (IHHE), although rare, is one of the most common vascular tumors liver in children.1,2 Though are histologically benign, they occasionally cause life-threatening complications, such as cardiac failure, coagulation disorder, respiratory distress and, sometimes, hypothyroidism.1 Prednisolone was mainly used for treatment symptomatic IHHE, but recently, several case reports showed therapeutic effects propranolol IHHE.3
A 613 g girl was born at 23 weeks of gestation by vaginal delivery due to maternal chorioamnionitis. She developed constipation and abdominal distention on day 2, a small amount peritoneal fluid low blood pressure 4 bloody stool 6. Abdominal X-ray showed non-specific bowel gas pattern. Necrotising enterocolitis (NEC) suspected treated fasting, vasopressor support …
The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented congenital hypothyroidism addition to typical AKT3-related brain disorders. of this contributes delineating the associated yet uncertain endocrine complications disease-causing variant.
Encephalocraniocutaneous lipomatosis (ECCL), a type of mosaic RASopathy, is rare neurocutaneous syndrome characterized by the involvement tissues with ectodermal and mesodermal origins, including cutaneous, ocular, neurological abnormalities. This report presents case neonate ECCL showing rapid progression hydrocephalus prenatally. A full-term female newborn presented head circumference enlargement bilateral abnormal hair pattern alopecia at birth. Brain imaging studies showed an enlarged...
Abstract Purpose It is important to monitor cerebral perfusion in infants because hypo- and hyperperfusion can contribute neurological injury. This study aimed clarify the relationship between trans-systolic time (TST) critical closing pressure (CrCP) or estimated (CPPe) neonates. Moreover, we determine TST values preterm term with stable normative reference data. Methods multicentre prospective included arterial lines admitted neonatal intensive care units December 2021 August 2023. TST,...