Cerebrovascular diseases in two patients with entire NSD1 deletion.

We describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages.

SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation.

Introduction: SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apnea during seizures, and thus have an increased risk of sudden death. Herein, we report a case of very severe SCN8A-related epilepsy necessitating cardiac pacemaker implantation because of repetitive ictal asystole.

Hippocampal diffusion abnormality after febrile status epilepticus is related to subsequent epilepsy.

Objective: To assess hippocampal signal changes on diffusion-weighted imaging (DWI) during the acute period after febrile status epilepticus (FSE) and to examine the relationship between DWI and subsequent epilepsy.

Methods: A prospective, multicenter study of children with a first episode of FSE was performed. The patients underwent magnetic resonance imaging (MRI) within 3 days of FSE, and signal intensity was evaluated on DWI.

Successful corpus callosotomy for post-encephalopathic refractory epilepsy in a patient with MECP2 duplication syndrome.

Background: Patients with MECP2 duplication syndrome present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and epileptic seizures. Approximately half of all patients develop epileptic seizures which are refractory in most cases despite active medical management. Furthermore, no previous reports have discussed the efficacy of surgical treatment for seizures in patients with MECP2 duplication syndrome.

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

BCL11A encodes a zinc finger protein that is highly expressed in hematopoietic tissues and the brain, and that is known to function as a transcriptional repressor of fetal hemoglobin (HbF). Recently, de novo variants in BCL11A have been reported in individuals with intellectual disability syndrome without epilepsy. In this study, we performed whole-exome sequencing of 302 patients with epileptic encephalopathies (EEs), and identified 2 novel BCL11A variants, c.

The effects of co-medications on lamotrigine clearance in Japanese children with epilepsy.

Purpose: Although it has been reported that some antiepileptic drugs have inducing or inhibiting effects on lamotrigine (LTG) clearance, whether they have the same effects in Asian epilepsy patients as in those in other countries has not been clarified, especially in children. The aim of this study was to determine the effects of co-medications on LTG clearance in Japanese children with epilepsy.

Methods: A total of 342 routine serum concentration measurements of LTG in 102 Japanese epilepsy patients under 20years of age were reviewed.

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.

Purpose: The pathomechanism and treatment of PCDH19 female epilepsy (PCDH19-FE) remain unclear. Here, we report that corticosteroids are effective for control of the seizure clusters or other acute symptoms of PCDH19-FE and argue for the possible involvement of a compromised blood-brain barrier (BBB) in its pathogenesis.

Methods: The efficacy of corticosteroids was retrospectively reviewed in five Japanese patients with PCDH19-FE.

PET in infancy predicts long-term outcome during adolescence in cryptogenic West syndrome.

Background And Purpose: Developmental and seizure outcomes in patients with cryptogenic West syndrome are variable. Our aim was to clarify the relationship between FDG-PET findings in infancy and long-term seizure and developmental outcome in cryptogenic West syndrome.

Materials And Methods: From 1991 to 1999, we prospectively performed FDG-PET from the onset of cryptogenic West syndrome in 27 patients.

Optimization and cost-saving in tagmentation-based mate-pair library preparation and sequencing.

In de novo genome sequencing, mate-pair reads are crucial for scaffolding assembled contigs. However, preparation of mate-pair libraries is not a trivial task, even when using one of the latest approaches, the Nextera Mate Pair Sample Prep Kit from Illumina. To reduce cost and enhance library yield and fidelity when using this kit, we have modified the manufacturer's protocol based on (i) variable tagmentation conditions, (ii) intensive DNA shearing to decrease library insert length, and (iii) sequencing on an Illumina HiSeq with >150 cycles.

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH)-based genotype-phenotype analysis of 22 Japanese WHS patients, the first large non-Western series.

Characteristics of epilepsy occurring in the first four months.

Introduction: Epilepsies with an onset during the early infantile period are relatively rare and their characteristics are not well recognized. The aim of this study was to determine the clinical characteristics of epilepsies with an onset during the early infantile period.

Methods: Clinical information on 73 patients with the onset of epilepsy within the first four months was collected from hospitals affiliated with Nagoya University.

Orthopaedic manifestations and diagnostic clues in children with Guillain-Barré syndrome.

Introduction: Guillain-Barré syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized by symmetric limb weakness. Children with GBS sometimes consult the orthopaedists because of limb pain and gait disturbance. The orthopaedists, however, are unfamiliar with GBS, since it has rarely been delineated in detail in the orthopaedic literature.

A LIM-homeobox gene is required for differentiation of Wnt-expressing cells at the posterior end of the planarian body.

Planarians have high regenerative ability, which is dependent on pluripotent adult somatic stem cells called neoblasts. Recently, canonical Wnt/β-catenin signaling was shown to be required for posterior specification, and Hedgehog signaling was shown to control anterior-posterior polarity via activation of the Djwnt1/P-1 gene at the posterior end of planarians. Thus, various signaling molecules play an important role in planarian stem cell regulation.

Synthesis and optical resolution of a Cu(I) double-stranded helicate with ketimine-bridged tris(bipyridine) ligands.

A tetranuclear Cu(I) double-stranded helicate was synthesized from ketimine-bridged tris(bipyridine) ligands and Cu(I) ions, and the racemate was successfully resolved by diastereomeric salt formation using an optically pure phosphate anion followed by anion exchange with NaPF(6) without racemization.

Overview of the transcriptome profiles identified in hagfish, shark, and bichir: current issues arising from some nonmodel vertebrate taxa.

Because of their crucial phylogenetic positions, hagfishes, sharks, and bichirs are recognized as key taxa in our understanding of vertebrate evolution. The expression patterns of the regulatory genes involved in developmental patterning have been analyzed in the context of evolutionary developmental studies. However, in a survey of public sequence databases, we found that the large-scale sequence data for these taxa are still limited.

ERK signaling controls blastema cell differentiation during planarian regeneration.

The robust regenerative ability of planarians depends on a population of somatic stem cells called neoblasts, which are the only mitotic cells in adults and are responsible for blastema formation after amputation. The molecular mechanism underlying neoblast differentiation associated with blastema formation remains unknown. Here, using the planarian Dugesia japonica we found that DjmkpA, a planarian mitogen-activated protein kinase (MAPK) phosphatase-related gene, was specifically expressed in blastema cells in response to increased extracellular signal-related kinase (ERK) activity.

Polymerization of an optically active phenylacetylene derivative bearing an azide residue by click reaction and reaction with a rhodium catalyst.

A facile method for synthesizing diverse optically active polymers with different backbone structures was developed by the polymerization of an optically active aromatic azide bearing an acetylene unit with a rhodium catalyst followed by the click reaction of the pendant azides or by the click polymerization of the monomer.

Subacute encephalopathy: clinical features, laboratory data, neuroimaging, and outcomes.

We sought to clarify the clinical, laboratory, neuroradiologic, and neurophysiologic features of the "subacute" subtype of encephalopathy. We retrospectively identified nine patients with subacute encephalopathy out of 97 patients diagnosed as manifesting acute encephalopathy. Neurologic symptoms, clinical course, laboratory data, neuroradiologic and electroencephalographic findings, and outcomes were reviewed through medical records.

Ictal electroencephalographic findings of neonatal seizures in preterm infants.

The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges were evaluated.

Mild oliguria in preterm infants who later developed periventricular leukomalacia.

The aim of this study is to determine whether or not renal involvement was present during the early neonatal period in preterm infants with PVL. We conducted a case-control study. The following items were evaluated; urine output, serum levels of sodium (Na), potassium (K), chloride (Cl), urea nitrogen (UN), and creatinine (Cr).

Efficacy and adverse effects of rectal thiamylal with oral triclofos for children undergoing magnetic resonance imaging.

We studied the efficacy and adverse effects of rectal thiamylal in combination with oral triclofos in sedation for pediatric magnetic resonance imaging. Five hundred forty-six children underwent MRI examination from January of 1997 to December of 2001. Among them, 10mg/kg of rectal thiamylal was administrated after oral triclofos in 378 children.