Expanding Ventricular Diverticulum Overlying the Cerebral Hemisphere through an Open-Lip Schizencephalic Cleft: A Report of Two Pediatric Cases.

Introduction: Open-lip-type schizencephaly is characterized by trans-cerebral clefts filled with cerebrospinal fluid (CSF) between the subarachnoid space at the hemisphere surface and the lateral ventricles. Disorders related to CSF retention, including hydrocephalus and arachnoid cysts, have reportedly been associated with open-lip schizencephaly and have induced intracranial hypertension in some cases. However, detailed neuroimaging and surgical treatment findings have rarely been described.

TRPV4-mediated Ca deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.

Mutations in the gene encoding the transient receptor potential vanilloid member 4 (TRPV4), a Ca permeable nonselective cation channel, cause TRPV4-related disorders. TRPV4 is widely expressed in the brain; however, the pathogenesis underlying TRPV4-mediated Ca deregulation in neurodevelopment remains unresolved and an effective therapeutic strategy remains to be established. These issues were addressed by isolating mutant dental pulp stem cells from a tooth donated by a child diagnosed with metatropic dysplasia with neurodevelopmental comorbidities caused by a gain-of-function TRPV4 mutation, c.

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.

Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years.

Methylidyne Adsorption on Pt(211) Probed by Reflection Absorption Infrared Spectroscopy (RAIRS).

Methylidyne, CH(ads), adsorbed on a Pt(211) surface and its interaction with chemisorbed hydrogen atoms was studied by reflection absorption infrared spectroscopy (RAIRS). Methylidyne was formed on Pt(211) by methane dissociation from a molecular beam followed by thermal decomposition of the methane dissociation products. CH(ads) was detected by RAIRS via its symmetric C-H stretch vibration resulting in three discrete absorption peaks in the region of 2950-2970 cm.

Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate.

Introduction: The coronavirus disease 2019 (COVID-19), including the Omicron variant, is less severe in children than in adults. To date, there has been no detailed description of COVID-19-associated severe encephalopathy due to the Omicron variant during the neonatal and early infantile periods.

Case Presentation: During the outbreak of the Omicron variant, a 29-day-old male presented with a pale and ill appearance.

Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes.

Vitamin deficiencies are an emerging concern in the management of children with autism spectrum disorder (ASD). Particular attention is required for recognizing the variable signs caused by unbalanced food intakes. We herein report two patients with multiple vitamin deficiencies who needed critical care showing different prognoses.

Isolation, purification and characterization of the antibacterial, antihypertensive and antioxidative properties of the bioactive peptides in the purified and proteolyzed major storage protein of pigeon pea () seeds.

Previous studies in pigeon pea showed health benefits but very few explored peptide bioactivities. This study examined antimicrobial, antioxidant, and antihypertensive activities of peptides in purified and proteolyzed major globulin fraction, cajanin, of pigeon pea () seeds. In-silico analysis showed 41 antihypertensive and nine antioxidant peptides but zero antibacterial peptides from cajanin sequence.

lipid-lowering properties of the fruits of two [ (L.) Spreng] cultivars as affected by maturity stage and thermal processing.

[ (L). Spreng] fruit contains an array of polyphenols and information on how these bioactive compounds vary with cultivar type, maturity stage, and process treatment are unclear. Also, the effects of these variations on the lipid-lowering potential of this Philippine indigenous berry have not been reported.

Neurodevelopmental Outcomes of High-Risk Preterm Infants: A Prospective Study in Japan.

Objectives: To determine the neurodevelopmental outcomes of very-low-birth-weight infants (VLBWIs, birth weight <1,500 g) after 9 years of follow-up.

Methods: This study prospectively recruited 224 VLBWIs born from 2003 to 2009 in Kyushu University Hospital, Japan. Comorbidities of neurocognitive impairment, epilepsy, and autism spectrum disorder or attention-deficit hyperactivity disorder (ASD/ADHD) were assessed at age 3, 6, and 9 years.

Breast feeding and infant development in a cohort with sibling pair analysis: the Japan Environment and Children's Study.

Objectives: To investigate the association between breast feeding and infant development during the first year of life using sibling comparison.

Design: Nationwide prospective birth cohort study with sibling pair analysis.

Setting: 15 regional centres that participated in the Japan Environment and Children's Study.

Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.

Background: Adrenoleukodystrophy (ALD) is an X-linked disorder characterized by rapidly progressive deterioration of neurocognitive functions and premature death. In addition to the difficulty in identifying the earliest signs of ALD, treatment-associated exacerbation of neurological symptoms has been an obstacle to achieve successful hematopoietic cell transplantation (HCT) for affected children.

Case Report: We report a 9-year-boy with ALD.

Age-related morphological differences in the spike-and-wave complexes of absence epilepsy.

Objective: Absence epilepsy shows age-related clinical features, as is observed in childhood and juvenile absence epilepsy. Electroencephalogram (EEG) is characterized by bursts of 3 Hz spike-and-wave complex (SWC). We noticed a morphological variation of the slow-wave component of SWCs between patients.

Periodic discharges with high frequency oscillations recorded from a cerebellar gangliocytoma in an epileptic infant.

Background: Subcortical epilepsies associated with developmental tumors in the cerebellum are rarely experienced. As supportive evidence of the intrinsic epileptogenicity of cerebellar tumors, previous electroencephalogram (EEG) studies with intratumoral depth electrodes demonstrated epileptiform or ictal discharges. Recent studies have demonstrated that high frequency oscillations (HFOs) can be regarded as a new biomarker of epileptogenesis and ictogenesis; however, there are few evidence about HFOs in cases of epilepsy associated with cerebellar tumors.

Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia.

Transient receptor potential vanilloid member 4 (TRPV4) is a Ca permeable nonselective cation channel, and mutations in the gene cause congenital skeletal dysplasias and peripheral neuropathies. Although TRPV4 is widely expressed in the brain, few studies have assessed the pathogenesis of mutations in the brain. We aimed to elucidate the pathological associations between a specific mutation and neurodevelopmental defects using dopaminergic neurons (DNs) differentiated from dental pulp stem cells (DPSCs).

Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.

Background: Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive.

Case Presentation: We present the case of a 12-month-old boy with PS, manifesting as the bilateral microcoria and congenital nephrotic syndrome.

Management of apnea in infants with trisomy 18.

This case series aimed to characterize the clinical features, management, and outcomes of apnea in infants with trisomy 18. Participants in this study were infants with trisomy 18 who were born alive and admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2018. Retrospective analysis was performed on clinical data recorded in our department.

Association of perinatal factors of epilepsy in very low birth weight infants, using a nationwide database in Japan.

Objective: To determine clinical features of very low birth weight infants (VLBWIs) who had developed epilepsy by age 3 years.

Study Design: Multicenter cohort study using the Neonatal Research Network of Japan database. We analyzed clinical variables of 8431 VLBWIs who had recorded data of neurological sequelae at age 3 years.

Continuous ictal discharges with high frequency oscillations confined to the non-sclerotic hippocampus in an epileptic patient with radiation-induced cavernoma in the lateral temporal lobe.

Background: Intraoperative electrocorticography (iECoG) recording is recommended for treating cavernoma related epilepsy. However, "interictal" paroxysmal activities are generally recordable but are not always identical to the epileptogenic zone.

Case Description: We surgically treated a 15-year-old girl with drug-resistant epilepsy associated with radiation-induced cavernoma in the right lateral temporal lobe.

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion.

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood-onset encephalopathy, but the precise pathophysiology remains unclear. We encountered a child with Moyamoya syndrome and AESD. He exhibited left-predominant stenosis of the middle cerebral artery (MCA), and later developed broad lesions in the left hemisphere, raising the possibility that insufficient blood supply relates to formation of the lesions.

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases.

Purpose: Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a leading cause of childhood-onset encephalopathy in Japan. Children with AESD frequently develop intractable epilepsy, whereas their treatment options remain to be determined.

Method: We present 2 unrelated girls, who developed AESD at 25 months (case 1) and 12 months of age (case 2).

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention.

The human brain is lateralised to the right for visuospatial attention, particularly when reorienting attention to unexpected stimuli. However, the developmental characteristics of lateralisation remain unclear. To address this question, we devised a saccade task applicable for both adults and children.