Papers by Shinichiro Morichi
American Journal of Medical Genetics, Nov 30, 2020
Several patients with beta‐propeller protein–associated neurodegeneration (BPAN)/static encephalo... more Several patients with beta‐propeller protein–associated neurodegeneration (BPAN)/static encephalopathy with neurodegeneration in adulthood have been reported to present Rett syndrome (RTT)‐like features. This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4 years. Screening of the methyl‐CpG binding protein 2 (MECP2) did not show variants. At 22 years, basal ganglia iron deposits were found on magnetic resonance imaging (MRI), and the WD‐domain repeat 45 gene (WDR45) variant was identified. Review of the literature showed that BPAN with RTT‐like features is associated with more epileptic seizures and less deceleration of head growth, breathing irregularities, and cold extremities than classic RTT with MECP2 variants. These clinical presentations may provide clues for differentiating between these two disorders. However, both WDR45 and MECP2 should be screened in patients presenting a clinical picture of RTT without specific MRI findings of BPAN.
Cureus, Feb 2, 2023
Watanabe et al. This is an open access article distributed under the terms of the Creative Common... more Watanabe et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Journal of Clinical Medicine, Oct 13, 2022
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
An injury alert concerning baby sling carriers issued in 2010 highlighted a case of suffocation a... more An injury alert concerning baby sling carriers issued in 2010 highlighted a case of suffocation and cardiopulmonary arrest. Here, the sudden death in a sling carrier of an infant due to decreased mitochondrial enzyme activity is reported. Symptoms arising from abnormalities of mitochondrial DNA can occur in any age group, with muscle weakness being common. The infant was a 3-monthold baby girl who had produced watery diarrhea for several days before the fatal event. After feeding, the baby was carried by her mother in a sling for more than 40 minutes on a train. On reaching her destination, the mother noticed that the baby had nasal bleeding and a pale complexion. An ambulance was called, and the baby was found to be in state of cardiopulmonary arrest when it arrived. Liver autopsy revealed microvesicular fatty change and decreased enzyme activity of respiratory chain complex I. The suggested casual pathway of this sudden death was mitochondrial deficiency leading to muscle weakness, causing upper airway obstruction. It is important to consider all potential pathologies when a child dies from what appears to be airway obstruction.
Epilepsy & Seizure
Inherited glycosylphosphatidylinositol deficiencies (IGDs) are characterized by intractable epile... more Inherited glycosylphosphatidylinositol deficiencies (IGDs) are characterized by intractable epilepsy and developmental delay. Here, we report a three-year-old girl with an overlapping phenotype involving a compound heterozygous mutation (c.224T>C [p.I75T]; c.3139A>G [p.K1047E]) in the phosphatidylinositol glycan anchor biosynthesis class O (PIGO) gene. Our findings support the diagnosis of PIGO as a monogenic disease gene for developmental and epileptic encephalopathy. IGD-related epilepsy is usually intractable; however, seizures were completely controlled using diazepam and clonazepam with pyridoxine in our patient with mild developmental delay. Treatment with pyridoxine and benzodiazepine might be effective for the treatment of myoclonic seizure due to IGDs.
The Proceedings of the Dynamics & Design Conference, 2021
The Proceedings of Mechanical Engineering Congress, Japan, 2021
The Japanese Society of Child Neurology, Apr 20, 2017
Journal of Pediatric Epilepsy, Feb 10, 2018
Sudden unexpected death in epilepsy (SUDEP) occurs in 1 in 4,500 children, and this incidence is ... more Sudden unexpected death in epilepsy (SUDEP) occurs in 1 in 4,500 children, and this incidence is more than 20 times that of sudden death in the general population. We report two cases of SUDEP and a review of the literature. There are various hypotheses regarding the cause of this event, but investigation and research are difficult due to the small number of autopsy cases. The risk of SUDEP may be reduced by the accumulation of cases in the future.
International Journal of Molecular Sciences
The role of neuroinflammation in the pathophysiology of migraines is increasingly being recognize... more The role of neuroinflammation in the pathophysiology of migraines is increasingly being recognized, and cytokines, which are important endogenous substances involved in immune and inflammatory responses, have also received attention. This review examines the current literature on neuroinflammation in the pathogenesis of migraine. Elevated TNF-α, IL-1β, and IL-6 levels have been identified in non-invasive mouse models with cortical spreading depolarization (CSD). Various mouse models to induce migraine attack-like symptoms also demonstrated elevated inflammatory cytokines and findings suggesting differences between episodic and chronic migraines and between males and females. While studies on human blood during migraine attacks have reported no change in TNF-α levels and often inconsistent results for IL-1β and IL-6 levels, serial analysis of cytokines in jugular venous blood during migraine attacks revealed consistently increased IL-1β, IL-6, and TNF-α. In a study on the interictal ...
The Proceedings of the Dynamics & Design Conference
Journal of Infection and Chemotherapy
INTRODUCTION To clarify the pathology of children with acute encephalopathy and other neurologica... more INTRODUCTION To clarify the pathology of children with acute encephalopathy and other neurological disorders, the involvement of high-mobility group box 1 (HMGB1), which is a representative of danger-associated molecular patterns, and angiogenesis-related growth factors were investigated. PATIENTS AND METHODS Participants were 12 children with acute encephalopathy (influenza, rotavirus, and others), 7 with bacterial meningitis, and 6 with epilepsy disease (West syndrome). Twenty-four patients with non-central nervous system (CNS) infections as a control group were admitted to our hospital. We examined the levels of HMGB1, platelet-derived growth factor (PDGF), vascular endothelial growth factor (VEGF), and other cytokines in the serum and cerebrospinal fluid (CSF) of the subjects. RESULTS Serum and CSF HMGB1 levels were significantly higher in the encephalopathy and meningitis groups than in the West syndrome and control groups. CSF HMGB1 levels correlated with those of interleukin-6 and -8. CSF HMGB1 and VEGF levels were correlated, and PDGF showed a positive relationship. CONCLUSION HMGB1 and angiogenesis-related growth factors appear to play pivotal roles in the pathophysiology of CNS infections.
Compact and lightweight nine-axis motion sensors have come to be used for motion analysis in a va... more Compact and lightweight nine-axis motion sensors have come to be used for motion analysis in a variety of fields such as medical care, welfare, and sports. Nine-axis motion sensors include a three-axis gyroscope, a three-axis accelerometer, and a three-axis magnetometer and can estimate joint angles using the gyroscope outputs. However, the bias of the gyroscope is often unstable depending on the measurement environment and the accuracy of the gyroscope itself, causing error to accumulate in the angle obtained by integrating the gyroscope output. Although several sensor fusions have been proposed for pose estimation, such as using an accelerometer and a magnetometer, sequentially estimating and correcting the bias of the gyroscope are desirable for more accurate pose estimation. In addition, considering accelerations other than the acceleration due to gravity is important for a sensor fusion method that utilizes the accelerometer to correct the gyroscope output. Therefore, in this s...
Global Pediatric Health, 2021
We investigated 22 cases of patients with myocarditis during respiratory syncytial virus (RSV) in... more We investigated 22 cases of patients with myocarditis during respiratory syncytial virus (RSV) infection by a questionnaire survey, and performed a literature search to clarify their characteristics. The age distribution was divided into 2 groups, that is, 1 group comprised of patients younger than 4-years old and the other comprised patients older than 15 years. ECG demonstrated disturbance of the conduction system (AV block) in 7 out of 18 patients (38.8%), myocardial damage (ST-T change) in 9 out of 18 patients (50.0%), and tachycardia in 3 out of 18 patients (16.6%). Echocardiography displayed a robust decrease in left-heart function in 12 out of 14 patients. The outcome was 2 deaths, 1 pacemaker placement, 4 patients with mild sequel. Our data suggest that RSV myocarditis caused by RSV infection can be divided into 3 different pathophysiologies, characterized by disturbance of the conduction system, myocardial damage, and increase of autonomy.
Cureus
Bacterial meningitis in infants is a life-threatening illness that survives significant neurologi... more Bacterial meningitis in infants is a life-threatening illness that survives significant neurological sequelae that remain in survivors. The current diagnostic gold standard for meningitis is bacterial isolation from culture or molecular diagnostics in the cerebrospinal fluid. The decision for antibiotics therapy before bacterial detection is made on microscopic and biochemical findings in the cerebrospinal fluid, however, some patient shows no microscopic finding and pleocytosis at the initial cerebrospinal fluid analysis. Herein, we report a case of late-onset group B Streptococcus serotype Ib meningitis that could be introduced with timelier antibiotic therapy even in the absence of pleocytosis without the detection of bacteria on smear at the initial CSF analysis.
Japanese Society of Child Neurology, Feb 1, 2017
International Journal of Molecular Sciences, Jun 11, 2021
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
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Papers by Shinichiro Morichi