Sertraline treatment for paroxysmal nonkinesigenic dyskinesia comorbid with anxiety and depression.

Familial paroxysmal non-kinesigenic dyskinesia, which is a major form of paroxysmal dyskinesias, is characterized by intermittent attacks that include one side, subsequently spreading to the other side, involving the limbs and face, and is triggered by caffeine, alcohol, emotional stress, fatigue, and sleep deprivation, but not by sudden movement. A 26-year-old man had experienced dystonic movements and a choreiform right arm spreading to his arms, legs, and face since the age of one year. Oral dyskinesias and, rarely, dysarthria were also observed.

A tradeoff evolution between acoustic fat bodies and skull muscles in toothed whales.

Toothed whales have developed specialized echolocation abilities that are crucial for underwater activities. Acoustic fat bodies, including the melon, extramandibular fat body, and intramandibular fat body, are vital for echolocation. This study explores the transcriptome of acoustic fat bodies in toothed whales, revealing some insight into their evolutionary origins and ecological significance.

Arterial spin labeling image findings in the acute phase in paediatric patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Introduction: Diagnosing acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) after the first seizure (early seizure/seizures, ES/ESs) is challenging because a reduced apparent diffusion coefficient (ADC) in the cortical or subcortical white matter, often described as having a "bright-tree appearance (BTA)," is usually not observed until secondary seizures (late seizures, LSs) occur. Previous studies have reported hypoperfusion on arterial spin labeling (ASL) within 24 h after ES/ESs in patients with AESD and hyperperfusion within 24 h after LS onset. This study aimed to investigate cerebral blood flow in the hyperacute phase (between ES/ESs and LSs) using ASL in patients with AESD.

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses.

Assessing the costs of GHG emissions of multi-product agricultural systems in Vietnam.

Besides a vital sector of the economy, agriculture is a primary source of greenhouse gas (GHG) emissions. The present paper investigates the impact of carbon tax policy on Vietnamese agriculture by focusing on multi-product systems such as rice, livestock, and aquaculture, traditionally called the Vuon (Garden)-Ao (Pond)-Chuong (livestock pen) system (VAC). In it, farmers use garden, pond, and pen by-products as fertilizer and feed.

Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the .

Intractable epilepsy was successfully controlled using perampanel, an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid-type glutamate receptor antagonist, in a 27-year-old woman who presented with a Rett syndrome-like phenotype and novel 960-kb deletion involving syntaxin-binding protein 1 on chromosome 9q34.11. Perampanel may be an effective antiepileptic drug for intractable epilepsy associated with  mutations.

Diphyllobothrium stemmacephalum (Cestoda: Diphyllobothriidae) found from a harbor porpoise in northern Japan, with comments on a geographical gap with human infection cases in southern Japan.

Even though the cetacean tapeworm Diphyllobothrium stemmacephalum occurs in both cold and warm waters, human infections and final host occurrences have been confined to temperate areas in and near Japan. We recently obtained a strobila of this cestode that was excreted from a harbor porpoise accidentally caught offshore of Hokkaido of northern Japan. Genetic analysis of 28S rDNA and cox1 genes confirmed that the cestode was D.

Truncal Instability and Titubation in Patients With Acute Encephalopathy With Reduced Subcortical Diffusion.

The present retrospective study aimed to investigate the presence of truncal instability or titubation after the first seizure and second phase in patients with acute encephalopathy with reduced subcortical diffusion (AED). Of the 15 patients with AED who were admitted to our hospital for 3 years and 2 months and had reached developmental milestones for sitting before disease onset, six experienced moderate-to-severe truncal instability while sitting after the first seizure. These patients had a significantly longer first seizure duration and significantly lower GCS scores 12-24 h after the first seizure, as well as significantly higher Tada score and Creatinine and blood glucose levels than those with mild or no truncal instability while in a seated position after the first seizure.

Current medico-psycho-social conditions of patients with West syndrome in Japan.

Objective: To unveil current medical and psychosocial conditions of patients with West syndrome in Japan.

Methods: A cross-sectional analysis was performed in patients with West syndrome registered in the Rare Epilepsy Syndrome Registry (RES-R) of Japan. Furthermore, new-onset patients registered in the RES-R were observed prospectively and their outcomes after one and two years of follow-up were compared with data at onset.

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy typically exhibit hypoparathyroidism, adrenocortical failure, and chronic mucocutaneous candidiasis. There are only a few case reports of autoimmune encephalitis during autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, but not as an initial manifestation.

Pulmonary Actinomycosis and Mucormycosis Coinfection in a Patient With Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia Undergoing Chemotherapy.

Mucormycosis is an opportunistic and progressive infection, while actinomycosis usually grows gradually and rarely develops in immunocompromised patients. Here we report a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia who developed a pulmonary actinomycosis and mucormycosis coinfection. Once the diagnosis of actinomycosis was confirmed by bronchoscopy, lobectomy performed before stem cell transplantation revealed mucormycosis.

Gastric ulceration caused by genetically identified Anisakis simplex sensu stricto in a harbor porpoise from the Western Pacific stock.

The genus Anisakis is a well-known group of nematodes that parasitize cetaceans as the final host and cause mucosal damage to their stomach. However, little has been done to precisely identify the nematodes recovered from the final hosts, especially in the Western Pacific, because of taxonomic confusion about the discrimination of sibling species and the difficulties of obtaining specimens from cetaceans. We describe the results of genetic identification and histopathological observations of specimens recovered from an ulcerated lesion and stomach contents in the forestomach of a female harbor porpoise accidentally caught by a set net fishery in Usujiri, southern Hokkaido, Japan.

Foraging activity of harbour porpoises around a bottom-gillnet in a coastal fishing ground, under the risk of bycatch.

Bycatch of harbour porpoises (Phocoena phocoena) by gillnets is a recognised threat to populations. To develop effective mitigation measures, understanding the mechanics of bycatch is essential. Previous studies in experimental conditions suggested foraging activity is an important factor influencing porpoises' reaction to gillnets.

Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for MDS by sending questionnaires to 575 hospitals where board-certified pediatric neurologists were working and 195 residential hospitals for persons with severe motor and intellectual disabilities in Japan. This survey found 65 cases of MDS, and clinical data of 24 cases in which the diagnosis was genetically confirmed were analyzed.

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

Introduction: Variants of CACNA1G, which encodes Ca3.1, have been reported to be associated with various neurological disorders.

Methods: Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted.

Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome.

Purpose: To investigate walking ability in Japanese patients with Rett syndrome (RTT).

Methods: Walking ability was assessed in 100 female Japanese patients with RTT using univariate and multivariate analysis in all age groups, and in patients over 10 years of age. We analyzed walking ability and confounding factors including prenatal-perinatal histories, developmental milestones, somatic and head growth, anthropometric data, body mass index, age of loss of purposeful hand use, age at onset of stereotypic hand movement, history of autistic behavior, age at regression, presence or absence of seizures, and the results of MECP2 genetic examination from the Japanese Rett syndrome database.

Association between children's sleep patterns and problematic behaviors at age 5.

Background: Night-shift lifestyles affect children as well as adults, and are associated with sleep and behavioral problems among children. This study aimed to investigate associations among sleep patterns, individual/environmental factors, and problematic behaviors in children at age 5 years.

Methods: Data for sleep patterns, individual / environmental factors, and problematic behaviors for 8,689 5-year-old children were collected from health-checkup records.