Hideaki Shiraishi
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View article: Macrophage activation syndrome associated with multi-system inflammatory syndrome in children: a case report and cytokine profile
Macrophage activation syndrome associated with multi-system inflammatory syndrome in children: a case report and cytokine profile Open
Macrophage activation syndrome (MAS) is a potentially life-threatening complication requiring early diagnosis and prompt treatment in rheumatic diseases such as systemic juvenile idiopathic arthritis (sJIA). Recently, multisystem inflammat…
View article: A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5-aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome
A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5-aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome Open
Objective A phase III, double-blind, placebo-controlled, randomized withdrawal trial of SPP-004 (5-aminolevulinic acid hydrochloride and sodium ferrous citrate) in patients diagnosed as Leigh syndrome (LS) was conducted to confirm the effi…
View article: Atypical Manifestations of Rett Syndrome: Macrocephaly and Hyperostosis Frontalis Interna in a Female Patient
Atypical Manifestations of Rett Syndrome: Macrocephaly and Hyperostosis Frontalis Interna in a Female Patient Open
Rett syndrome is a rare neurodevelopmental disorder caused by mutations in the MECP2 gene on the X chromosome, primarily affecting females. It is characterized by developmental regression, stereotypic hand movements, seizures, and microcep…
View article: Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study
Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study Open
An explorative study was conducted to evaluate the efficacy and safety of 5-aminolevulinic acid hydrochloride combined with sodium ferrous citrate (SPP-004) in 10 pediatric patients with Leigh syndrome (LS) aged 3–24 months in 10 instituti…
View article: Neurofibromatosis Type 1 and MEK Inhibition: A Comprehensive Review with Focus on Selumetinib Therapy
Neurofibromatosis Type 1 and MEK Inhibition: A Comprehensive Review with Focus on Selumetinib Therapy Open
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a wide range of clinical manifestations, including café-au-lait macules, cutaneous neurofibromas, and an increased risk of certain malignancies. Historically, there has …
View article: Neurofibromatosis Type 1 and MEK Inhibition: A Comprehensive Review with Focus on Selumetinib Therapy
Neurofibromatosis Type 1 and MEK Inhibition: A Comprehensive Review with Focus on Selumetinib Therapy Open
Neurofibromatosis Type 1 (NF1) is a genetic disorder characterized by a wide range of clinical manifestations, including café-au-lait macules, cutaneous neurofibromas, and an increased risk of certain malignancies. Historically, there has …
View article: Atypical Manifestations of Rett Syndrome: Macrocephaly and Hyperostosis Frontalis Interna in a Female Patient
Atypical Manifestations of Rett Syndrome: Macrocephaly and Hyperostosis Frontalis Interna in a Female Patient Open
Rett syndrome is a rare neurodevelopmental disorder caused by mutations in the MECP2 gene on the X chromosome, primarily affecting females. It is characterized by developmental regression, stereotypic hand movements, seizures, and microcep…
View article: Protein-Losing Enteropathy Following Adrenocorticotropic Hormone Therapy in an Infant with West Syndrome
Protein-Losing Enteropathy Following Adrenocorticotropic Hormone Therapy in an Infant with West Syndrome Open
Protein-losing enteropathy (PLE) is characterized by hypoproteinemia caused by the leakage of plasma proteins from the gastrointestinal tract wall into the lumen. We report a case of PLE occurring during low-dose adrenocorticotropic hormon…
View article: Pediatric Acute Disseminated Encephalomyelitis Triggered by Concurrent Administration of Seasonal and H1N1 Influenza Vaccines: A Case Report and Review
Pediatric Acute Disseminated Encephalomyelitis Triggered by Concurrent Administration of Seasonal and H1N1 Influenza Vaccines: A Case Report and Review Open
Background: Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated inflammatory disorder of the central nervous system (CNS), typically characterized by the acute onset of multifocal demyelination. The pathogenesis of ADEM …
View article: Youth Suicide in Japan: Exploring the Role of Subcultures, Internet Addiction, and Societal Pressures
Youth Suicide in Japan: Exploring the Role of Subcultures, Internet Addiction, and Societal Pressures Open
Background: Youth suicide remains a significant public health concern in Japan, driven by multifaceted factors such as academic pressures, social isolation, bullying, and family dysfunction. Recent societal changes, including the rise of i…
View article: The Therapeutic Potential of Oral Everolimus for Facial Angiofibromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy
The Therapeutic Potential of Oral Everolimus for Facial Angiofibromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy Open
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulat…
View article: Youth Suicide in Japan: Exploring the Role of Subcultures, Internet Addiction, and Societal Pressures
Youth Suicide in Japan: Exploring the Role of Subcultures, Internet Addiction, and Societal Pressures Open
Background: Youth suicide in Japan remains a significant societal issue, driven by a complex combination of academic pressures, social isolation, bullying, and family issues. In recent years, internet addiction and the influence of subcult…
View article: Pediatric Acute Disseminated Encephalomyelitis Triggered by Concurrent Administration of Seasonal and H1N1 Influenza Vaccines: A Case Report and Review of Literature
Pediatric Acute Disseminated Encephalomyelitis Triggered by Concurrent Administration of Seasonal and H1N1 Influenza Vaccines: A Case Report and Review of Literature Open
Background: Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated inflammatory disorder of the central nervous system (CNS), typically characterized by the acute onset of multifocal demyelination. The pathogenesis of ADEM …
View article: Therapeutic Potential of Oral Everolimus for Facial Angiofi-bromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy
Therapeutic Potential of Oral Everolimus for Facial Angiofi-bromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy Open
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation …
View article: Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients Open
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UP…
View article: Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria
Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria Open
Familial episodic pain syndrome (FEPS) is an early childhood onset disorder of severe episodic limb pain caused mainly by pathogenic variants of SCN11A, SCN10A, and SCN9A, which encode three voltage-gated sodium channels (VGSCs) expressed …
View article: 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) Open
View article: The Relationships between Identification with Parents, Feeling of Self-Disgust, and Time Perspective among College Students
The Relationships between Identification with Parents, Feeling of Self-Disgust, and Time Perspective among College Students Open
View article: Gender Identity and Online Friendship Formation Among Elementary and Junior High School Students
Gender Identity and Online Friendship Formation Among Elementary and Junior High School Students Open
View article: Image Classification for Machine Maintenance by CNN with Polarized Filtered Images
Image Classification for Machine Maintenance by CNN with Polarized Filtered Images Open
View article: Significance of micro-EGFR T790M mutations on EGFR-tyrosine kinase inhibitor efficacy in non-small cell lung cancer
Significance of micro-EGFR T790M mutations on EGFR-tyrosine kinase inhibitor efficacy in non-small cell lung cancer Open
Small amounts of epidermal growth factor receptor ( EGFR ) T790M mutation (micro-T790M), which is detected using droplet digital PCR (ddPCR) but not conventional PCR, in formalin-fixed and paraffin-embedded (FFPE) samples have been investi…
View article: Therapeutic effects of KRM-II-81, positive allosteric modulator for α2/3 subunit containing GABAA receptors, in a mouse model of Dravet syndrome
Therapeutic effects of KRM-II-81, positive allosteric modulator for α2/3 subunit containing GABAA receptors, in a mouse model of Dravet syndrome Open
Introduction: Dravet syndrome (DS) is an intractable epilepsy syndrome concomitant with neurodevelopmental disorder that begins in infancy. DS is dominantly caused by mutations in the SCN1A gene, which encodes the α subunit of a voltage-ga…
View article: Influence of background cardiovascular risk factors on VEGF inhibitor-related adverse vascular events in patients with non-small cell lung cancer: a retrospective study
Influence of background cardiovascular risk factors on VEGF inhibitor-related adverse vascular events in patients with non-small cell lung cancer: a retrospective study Open
View article: Significance of micro-EGFR T790M mutations on EGFR-tyrosine kinase inhibitor efficacy in non-small cell lung cancer: The WJOG 13119L study
Significance of micro-EGFR T790M mutations on EGFR-tyrosine kinase inhibitor efficacy in non-small cell lung cancer: The WJOG 13119L study Open
Small amounts of epidermal growth factor receptor ( EGFR ) T790M mutation (micro-T790M), which is detected using droplet digital PCR (ddPCR) but not conventional PCR, in formalin-fixed and paraffin-embedded (FFPE) samples have been investi…
View article: Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model Open
Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally expressed UBE3A gene. Treatments for the main manifestations, including cognitive dysfunction or epilepsy, are still under development. Recentl…
View article: Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II
Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II Open
Sirolimus was effective against epileptic seizures from FCD type II even for a child under 5 years of age. There were no critically serious adverse events and administration could be continued.
View article: An integrated genetic analysis of epileptogenic brain malformed lesions
An integrated genetic analysis of epileptogenic brain malformed lesions Open
Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of e…
View article: Neuroblastoma-related severe hypoperfusion in the cerebellum of an infant: A case of opsoclonus-myoclonus syndrome.
Neuroblastoma-related severe hypoperfusion in the cerebellum of an infant: A case of opsoclonus-myoclonus syndrome. Open
A 2-year-old girl started to wobble without any specific triggers, so the patient was admitted to our hospital's pediatric department. The entire cerebellum showed severe atrophy on MRI and much lower uptake than that in the cerebral corte…
View article: Approach to impaired corollary discharge in patients with schizophrenia: An analysis of self-induced somatosensory evoked potentials and fields
Approach to impaired corollary discharge in patients with schizophrenia: An analysis of self-induced somatosensory evoked potentials and fields Open
Background Difficulty in distinguishing between self-generated actions and those generated by others is a core feature of schizophrenia. This is thought to be underpinned by the failure of corollary discharge. However, few studies have inv…
View article: Magnetoencephalography Hyperscanning Evidence of Differing Cognitive Strategies Due to Social Role During Auditory Communication
Magnetoencephalography Hyperscanning Evidence of Differing Cognitive Strategies Due to Social Role During Auditory Communication Open
Auditory communication is an essential form of human social interaction. However, the intra-brain cortical-oscillatory drivers of auditory communication exchange remain relatively unexplored. We used improvisational music performance to si…