Microduplication of Gene in a Child with Drug-Resistant Epilepsy and Developmental/Epileptic Encephalopathy with Spike Wave Activation During Sleep.

Duplications in chromosomal locus 2q24.3 region that solely involve remain less explored. Favorable outcomes have been reported in patients with gene duplications in cases of mild epilepsy with onset during the neonatal to infantile period, or in infantile epileptic spasm syndrome.

Clinical and genetic characteristics of patients with Doose syndrome.

Objective: To elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy (MAE) or Doose syndrome.

Methods: We collected clinical information and blood samples from 29 patients with MAE. We performed whole-exome sequencing for all except one MAE case in whom custom capture sequencing identified a variant.

Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study.

Objectives: To investigate the prevalence and background of children with medical complexity (CMC) and its secular trend in Japan.

Methods: CMC were defined as patients under the age of 20 years requiring medical care and devices. The patients were enrolled using the national health insurance claims data of three hospitals and two rehabilitation centers in Tottori Prefecture.

Conversion surgery for initially unresectable pancreatic ductal adenocarcinoma with synchronous liver metastasis after treatment with FOLFIRINOX.

FOLFIRINOX is a highly effective anticancer treatment, even in advanced pancreatic cancer, which provides a potential cure in patients initially treated with a palliative strategy. A 47-year-old man was found to have an unresectable pancreatic cancer (4 cm in size) surrounding both the superior mesenteric artery and superior mesenteric vein. A simultaneous liver metastasis in Segment 8, with a diameter of 17 mm, was also detected.

Multicenter, Open-Label, Randomized Controlled Trial of Warfarin and Edoxaban Tosilate Hydrate for the Treatment of Deep Vein Thrombosis in Persons with Severe Motor Intellectual Disabilities.

Sudden death in patients with severe motor and intellectual disabilities (SMID) is sometimes caused in part by pulmonary thromboembolism (PTE), and deep venous thrombosis (DVT) has drawn attention as a possible embolic source. Warfarin, which is a conventional therapeutic agent, is not easy to control appropriately, and daily management can be especially difficult in SMID patients. On the other hand, edoxaban tosilate hydrate, which has been newly approved for insurance coverage for the treatment of DVT, is not listed in the Guidelines for the Diagnosis, Treatment and Prevention of Pulmonary Thromboembolism and Deep Vein Thrombosis (DVT-PTE guidelines).

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies.

Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.

Background: This study aimed to clarify the characteristics of acute encephalopathic episodes in patients with congenital adrenal hyperplasia (CAH), which we termed "CAH-associated encephalopathy (CAHE)."

Methods: This retrospective study was conducted using a questionnaire as a nationwide survey of patients with CAH with acute encephalopathy and related episodes.

Results: Fifteen patients were recruited on the bases of clinical data that supported a diagnosis of CAHE.

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

Objective: Congenital white matter disorders are a heterogeneous group of hypomyelination disorders affecting the white matter of the brain. Recently, mutations in the genes encoding the subunits of RNA polymerase III (Pol III), POLR3A and POLR3B, have been identified as new genetic causes for hypomyelinating disorders.

Method: Whole-exome sequencing was applied to identify responsible gene mutations in a 29-year-old female patient showing hypomyelination of unknown cause.

[Acute liver injury with hepatic encephalopathy associated with gemcitabine administration for adjuvant chemotherapy in an HBV carrier with pancreatic cancer].

A 75-year-old woman was admitted to our department because of epigastric pain. Imagings revealed cancer of the head of the pancreas. She was an HBV carrier, although no liver dysfunction was observed.

HMGA1 is induced by Wnt/beta-catenin pathway and maintains cell proliferation in gastric cancer.

The development of stomach cancer is closely associated with chronic inflammation, and the Wnt/beta-catenin signaling pathway is activated in most cases of this cancer. High-mobility group A (HMGA) proteins are oncogenic chromatin factors that are primarily expressed not only in undifferentiated tissues but also in various tumors. Here we report that HMGA1 is induced by the Wnt/beta-catenin pathway and maintains proliferation of gastric cancer cells.

HMGA2 maintains oncogenic RAS-induced epithelial-mesenchymal transition in human pancreatic cancer cells.

Pancreatic cancer is a highly aggressive malignancy due to elevated mitotic activities and epithelial-mesenchymal transition (EMT). Oncogenic RAS and transforming growth factor-beta signaling are implicated in these malignant features. The mechanisms that underlie EMT need to be addressed since it promotes tissue invasion and metastasis.

[Polycystic ovary syndrome and hepatocellular adenoma related to long-term use of sodium valproate in a young woman].

Previous studies have reported a high prevalence of polycystic ovary syndrome (PCOS) among women taking sodium valproate (VPA). We report the case of a 28 year-old epileptic female taking VPA, who developed PCOS and later hepatocellular adenoma. She had been taking VPA for intractable epilepsy since the age of 15 months.

Purification and characterization of phospholipase B from Candida utilis.

Phospholipase B (PLB) from the asporogenous yeast Candida utilis was purified to homogeneity from a culture broth. The apparent molecular mass was 90-110 kDa by SDS-PAGE. The enzyme had two pH optima, one acidic (pH 3.

Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1).

We report on a girl with monosomy 1p36.3 and Angelman syndrome due to an unbalanced transmission of a maternal balanced chromosomal translocation. She manifested monosomy 1p36 and Angelman syndrome including generalized hypopigmentation, ataxic movements, intractable seizures with characteristic electroencephalographic (EEG) abnormality compatible with Angelman syndrome, and other minor anomalies, large anterior fontanelle, severe psychomotor retardation, and seizures due to monosomy 1p36.

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from six families world wide and eight different mutations were described. Here we report the mutational spectrum in 48 additional unrelated families of different geographic origin.

[Photosensitivity in electroencephalogram of a child with 45, X/46, X, mar (X) Turner Syndrome].

We report an 11-year-old girl with Turner syndrome with 45, X/46, X, mar (X) who had mental retardation. EEG showed remarkable provocation of paroxysmal activity by photic stimulation. Diffuse irregular poly-spike and wave bursts were elicited by photic stimuli, without accompanying by clinical seizure.

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.

Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected and selective fetal reduction was performed.

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.

Mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase (ALDH5A1, SSADH) represents the last enzyme in the GABA catabolism and irreversibly oxidizes SSA to succinate. In human, SSADH deficiency results in 4-hydroxybutyric aciduria, an autosomal recessive disorder due to an accumulation of GABA and 4-hydroxybutyric acid in the CNS. We already identified SSADH gene on human chromosome 6p22 and characterized the coding region.

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

Inherited succinic semialdehyde dehydrogenase (SSADH; EC1.2.1.

Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy.

Forced normalization (FN) is a well known phenomenon of acute psychosis accompanying seizure control. An 11-year-old boy with intractable myoclonic epilepsy and severe psychomotor delay experienced FN during medication of ethosuximide. Although his myoclonic seizures were completely controlled, behavioral changes, more of the manic type, became evident.

Case of a mentally retarded child with non-24 hour sleep-wake syndrome caused by deficiency of melatonin secretion.

A case of a 5-year-old boy with non-24 hour sleep-wake syndrome and mental retardation is reported. His free-running sleep-wake rhythm was remarkably improved by the oral administration of melatonin. The circadian variation in melatonin secretion was extremely low, and circadian rhythm of cortisol secretion was noted.

A case of atypical absence seizures induced by leuprolide acetate.

We report a case of a 13-year-old female with atypical absence seizures induced by prolonged administration of long-acting leuprolide acetate (LA). This patient had brain involvement resulting from chemotherapy and radiotherapy for a medulloblastoma. At 13 years of age, administration of long-acting LA was started.

A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs.

We report the case of a 7-year old girl with Høyeraal-Hreidarsson syndrome (HHS) and review other cases of HHS. In addition to the previously described important signs of HHS, i.e.

Unilateral involuntary movement associated with streptococcal infection: neurophysiological investigation.

Two boys developed rhythmic involuntary movements in the extremities on one side of the body after febrile illness. They also showed behavioral disturbances. In both patients, serum antistreptolysin-O and antistreptokinase titers were elevated in acute illness and decreased a few months later.