Publications by authors named "Okumura Akihisa"
Article Synopsis
- - The study investigated serum salicylic acid (SA) levels in children with Kawasaki disease (KD) after they were treated with moderate doses of acetylsalicylic acid (ASA).
- - Out of 142 patients analyzed, median SA levels decreased from 22 µg/mL during the acute phase to 15 µg/mL during recovery, with a notable percentage of patients having levels below detectable limits.
- - The findings showed that serum SA levels varied widely and were not linked to responsiveness to intravenous immunoglobulin (IVIG) treatment.
Article Synopsis
- Prostaglandin E-major urinary metabolite (PGE-MUM) is highlighted as a key biomarker that indicates the cytokine profile in patients.
- A 14-year-old boy with severe ulcerative colitis didn't respond to traditional treatments like steroids and infliximab, requiring consideration of surgery.
- Elevated PGE-MUM levels suggested a specific cytokine profile, leading to successful treatment with mirikizumab, which resulted in the patient achieving remission.
Article Synopsis
- The study aimed to analyze diffusion-weighted imaging (DWI) findings in young children with moyamoya disease (MMD) during the early stages of the condition.
- Data was collected from 12 children under six years old, showing various DWI abnormalities primarily affecting the cerebral cortex, with distinct lesion types identified.
- Surprisingly, all children had internal carotid artery stenosis, but the severity did not always correlate with the ischemic lesions observed, indicating unique patterns of injury in MMD compared to typical strokes.
Background: Various factors contribute to the development of infection-related acute encephalopathy (AE) in children, such as infectious agents and chronic underlying disorders. We studied underlying disorders in children with AE to identify predisposing factors of AE.
Methods: We investigated underlying disorders or past histories in patients with two types of AE from the database in the Tokai area of Japan between 2009 and 2022: 204 patients with AE with reduced subcortical diffusion (AED) and 137 with clinically mild encephalopathy with a reversible splenial lesion (MERS).
Objective: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers acute encephalopathy as a serious neurological complication in children. We previously reported the clinico-radiological findings of SARS-CoV-2-associated encephalopathy. The advent of the SARS-CoV-2 omicron variant led to a marked increase in pediatric patients with coronavirus disease 2019 (COVID-19); however, epidemiological changes with acute encephalopathy according to the emergence of SARS-CoV-2 have not yet been documented.
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- Pediatric epilepsy management involves challenges related to diagnosis, treatment, and the developing brain's response to interventions.
- Broad-spectrum antiseizure medications (ASMs) that have minimal side effects and do not adversely affect cognitive function are preferred for children.
- Perampanel is a promising ASM with broad efficacy and manageable safety, although its usage in kids is not as widely studied as in adults, prompting expert discussions on optimizing its use in treatment.
Article Synopsis
- A study in Aichi Prefecture, Japan, aims to identify causes of child deaths and propose a method for systematic reviews to improve child death review (CDR) systems.* -
- Researchers examined clinical medical and autopsy records for children under 15 who died between 2014-2016, finding that 26.8% of these deaths were preventable, while cases of suspected maltreatment were notably higher than government statistics indicate.* -
- The findings suggest that reviewing clinical records is an effective strategy for identifying potentially preventable deaths and initiating the CDR process in Japan.*
Article Synopsis
- Adenovirus is a significant cause of febrile illness and can lead to serious conditions like encephalitis/encephalopathy in children, prompting a study on its clinical features in Japan.
- A nationwide survey collected data on children diagnosed with adenovirus-associated encephalitis/encephalopathy (AdVE) from January 2014 to March 2019, revealing demographic and clinical details, including outcomes.
- The findings indicated that previous febrile seizures were common, with a mixed prognosis; a subset of patients had poor outcomes associated with certain laboratory markers, and different encephalopathy subtypes existed among affected children.
Article Synopsis
- The study aimed to assess the clinical features of bilirubin encephalopathy in preterm infants in Japan by conducting a nationwide survey.
- A total of 41 pBE infants were identified, with 30 providing clinical data, showing severe motor impairments but some preserved manual skills and communication abilities.
- MRI scans revealed specific brain changes in most patients, and auditory brainstem response tests indicated hearing issues in a subset, helping to improve diagnosis of pBE.
Article Synopsis
- * Different methods were used for measuring bilirubin levels, with no clear association between the types of institutions and their measurement practices or phototherapy criteria.
- * The findings reveal significant inconsistencies in how neonatal jaundice is treated in Japan, indicating a lack of standardization among institutions.
Article Synopsis
- - Biliary atresia (BA) is a rare condition in infants that leads to jaundice and can cause vitamin K deficiency bleeding (VKDB), leading to complications such as hematomas from vaccinations.
- - A case of an 82-day-old girl with BA developed a significant hematoma in her arm after receiving a pneumococcal vaccine, resulting in a radial nerve palsy due to the bleeding.
- - Timely detection and management of BA and VKDB are crucial, as delays can lead to severe consequences, including lasting nerve damage even after treatment interventions like liver transplant.
Article Synopsis
- - A 2-month-old girl experienced bacteremia from a rare pathogen after showing symptoms like diarrhea, poor oral intake, and vomiting; she was initially diagnosed with acute enterocolitis.
- - Blood cultures identified Gram-negative cocci, later confirmed as a specific strain through advanced genetic analysis methods, which was challenging with standard tests.
- - The infant was treated successfully with cefotaxime and diagnosed later with a non-IgE-mediated gastrointestinal food allergy, highlighting the need for detailed studies to understand the pathogenicity of this rare pathogen in humans.
Article Synopsis
- The study aimed to determine if SARS-CoV-2 infection leads to acute encephalopathy in children and to identify the prevalent syndromes and their outcomes among pediatric patients in Japan from January 2020 to May 2022.
- A nationwide survey of the Japanese Society of Child Neurology found 31 eligible patients, with common diagnoses being biphasic seizures and cases linked to multisystem inflammatory syndrome in children (MIS-C).
- Out of the 31 patients studied, 29% experienced severe outcomes or died, highlighting the seriousness of encephalopathy associated with severe COVID-19 symptoms.
Article Synopsis
- The study investigated human metapneumovirus-associated encephalopathy (hMPVE) in children across Japan, focusing on its clinical features and outcomes.
- Researchers conducted a nationwide survey from 2014 to 2018, collecting data from pediatricians about children diagnosed with hMPVE, including demographics, symptoms, and treatment results.
- Out of 16 children studied, 11 had good outcomes while 5 experienced poor outcomes, with no significant factors identified that influenced health results compared to other viral-related encephalopathy cases.
Article Synopsis
- Nusinersen is a treatment for spinal muscular atrophy (SMA), but previous trials have mainly focused on pediatric patients, leaving its effects on adolescents and adults less understood.
- A study reviewed seven SMA patients treated with nusinersen from 2017 to 2022, assessing motor function improvements using specific tests like CHOP-INTEND and HFMSE.
- While CHOP-INTEND showed some improvement in patients, the other tests did not show significant changes, highlighting the need for consistent treatment intervals even during disruptions like the COVID-19 pandemic.
Article Synopsis
- The study evaluated the immune response to the BNT162b2 SARS-CoV-2 vaccine in patients with neuromuscular disorders (NMDs) like spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) compared to healthy subjects.
- Antibody levels after vaccination were similar between NMD patients and healthy individuals, indicating that patients with these disorders have a comparable immune response to the vaccine.
- The findings suggest that the BNT162b2 vaccine is both safe and effective for individuals with NMDs, with no significant differences in adverse reactions compared to healthy participants.
Objectives: To describe clinical features and laboratory data of myocarditis after the mRNA COVID-19 vaccine in children.
Methods: We reviewed patients younger than 18 years of age, who visited our hospital because of myocarditis within 1 week after BNT162b2 from June 2021 to January 2022.
Results: We identified five male patients aged 12-16 years who presented to our hospital with myocarditis within 2-3 days after the second dose of BNT162b2 COVID-19 vaccination between June 2021 and January 2022.
Article Synopsis
- This study utilized whole-exome sequencing (WES) on 177 Japanese patients with undiagnosed conditions to identify genetic causes of their health issues, as part of the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD).
- WES successfully provided diagnostic results for 66 patients through single-nucleotide variants and 11 through copy number variants (CNVs), with a particular case diagnosing Angelman syndrome linked to a specific genetic variant.
- The study achieved a higher genetic diagnosis rate (44%) compared to previous research (24-35%), likely due to comprehensive reviews by medical specialists and improved CNV detection methods.
We report a 14-year-old girl with a heterozygous p. Gln403Arg variant in the gene, who had five episodes of encephalopathy. She experienced reduced consciousness, numbness in the arm, and impaired verbal communication from day 4 of SARS-CoV-2 infection.
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- The study examined brain tissue from a patient who developed temporal lobe epilepsy following a febrile seizure caused by human herpesvirus 6 (HHV-6) infection during infancy.
- The patient had a history of reduced water diffusion in the temporal lobe and hippocampus shown through MRI, and HHV-6 DNA was found in blood but not in cerebrospinal fluid.
- After developing epilepsy and undergoing surgical treatment at age 14, analysis of the resected tissues revealed no presence of the virus, indicating that while HHV-6 triggered the initial seizures, its link to the later epilepsy and mesial temporal sclerosis was inconclusive.
Article Synopsis
- * Two case studies detail a 12-year-old boy and girl, both diagnosed with germinoma, who experienced generalized anhidrosis; after treatment with chemotherapy and radiation, the boy showed partial improvement while the girl had complete resolution of sweating.
- * The study highlights that while germinoma can lead to anhidrosis, the extent of hypothalamic involvement may influence the recovery of sweating in patients, with those having hypothalamic issues showing less improvement.
Article Synopsis
- A 9-year-old boy with leukemia had an unusual reaction to high doses of methotrexate, experiencing hypersensitivity and acral erythema, which are rare side effects.
- The symptoms were assessed for severity, and strategies like slowing the infusion rate and providing premedication allowed the boy to continue his treatment.
- Acral erythema improved with basic supportive care, and it was concluded that such reactions can happen even in the first treatment course without needing to change the overall chemotherapy plan unless absolutely necessary.
Article Synopsis
- Hunter syndrome is an X-linked disorder caused by a deficiency in iduronate-2-sulfatase, which has recently been linked to embolic strokes.
- A case study of a 23-year-old Japanese man with this condition revealed he experienced a subcortical infarction resembling branch atheromatous disease, despite being on treatment.
- Findings included thickening of the middle cerebral artery and impaired vasodilation, indicating potential complications in the cerebral arteries related to the disease, highlighting the need to explore the mechanisms behind cerebral infarction in Hunter syndrome patients.
Article Synopsis
- The study aimed to assess the medical and psychosocial conditions of epilepsy patients in Japan to improve the application of the Intractable/Rare Diseases Act.
- Out of 2,209 registered patients, 1,851 (87.7%) met the severity criteria laid out by the Act, with most classifications showing high proportions of severity but some groups having lower rates due to successful surgical outcomes.
- The findings indicate that while many epilepsy patients are covered by the Act, there are certain syndromes and diseases that should be considered for future inclusion based on ongoing research.