Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.

Constitutively active mutants of BRAF cause cardio-facio-cutaneous (CFC) syndrome, characterized by growth and developmental defects, cardiac malformations, facial features, cutaneous manifestations, and mental retardation. An animal model of human CFC syndrome, the systemic BrafQ241R/+ mutant mouse, has been reported to exhibit multiple CFC syndrome-like phenotypes. In this study, we analyzed the effects of Braf mutations on neural function, separately from their effects on developmental processes.

Availability of, Barriers to Performing, and Educational Practices of Interventional Procedures for Refractory Pain in Cancer Patients: A Nationwide Survey of Designated Cancer Hospitals in Japan.

Background: Because of the limitations of pharmacological therapy, nonpharmacological therapies including intervention procedures are also important for quality of cancer pain management.

Objective: To clarify the availability of, number performed, barriers to performing, and educational practices of four interventional procedures (celiac plexus neurolysis/splanchnic nerve neurolysis, phenol saddle block, epidural analgesia, and intrathecal analgesia) in designated cancer hospitals.

Design: Cross-sectional survey.

[Aceneuraminic acid for distal myopathy].

Distal myopathy with rimmed vacuoles (GNE myopathy) is an incurable disease that develops after the late teens, progresses slowly, and has no effective treatment. It is inherited in an autosomal recessive manner, and the number of patients in Japan is estimated to be around 400. The causative gene was revealed to be GNE, the rate-limiting enzyme in the sialic acid biosynthesis pathway, and non-clinical studies demonstrated the effectiveness of sialic acid.

Persistent body-weight change on achalasia and peroral endoscopic myotomy: a multicenter cohort study.

Background: The distribution of body weight in patients with achalasia and after peroral endoscopic myotomy (POEM) has not been investigated. The role of body weight assessment after treatment remains unclear.

Methods: Using the multicenter achalasia cohort, the frequency of underweight (body mass index [BMI] < 18.

Efficacy of corneal squamous cell carcinoma antigen-1 in early infancy in predicting atopic dermatitis and food allergy: A prospective study.

Background: Identification of predictive biomarkers is crucial for formulating preventive interventions and halting the progression of atopic march. Although controversial, the use of accessible markers to predict or detect early onset of atopic diseases is highly desirable. Therefore, this study aimed to investigate whether corneal squamous cell carcinoma antigen-1 (SCCA1) collected from infants can predict the development of atopic dermatitis and food allergy.

Intraductal Papillary Neoplasm of the Bile Duct Occurring 37 Years after Surgery for Congenital Biliary Dilatation: A Case Report.

We present the case of a 54-year-old woman who was diagnosed with intraductal papillary neoplasm of the bile duct (IPNB) in the remnant intrapancreatic bile duct, 37 years after surgery for congenital biliary dilatation. Endoscopic ultrasonography revealed a papillary, low-echoic mass in the intrapancreatic bile duct, and peroral cholangioscopy revealed a papillary mucosa. A pancreaticoduodenectomy was performed, and the patient was pathologically diagnosed with type 1 pancreatobiliary-type IPNB with associated invasive carcinoma.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

The performance of optic disc-macula distance to disc-diameter ratio in qualitative and quantitative assessment of the optic disc size.

Objectives: We aimed to evaluate the performance of the optic disc-macula distance to disc-diameter ratio (DM/DD) in qualitative and quantitative assessment of optic disc size.

Methods: In 300 apparently normal eyes, we determined the correlation between DM/DD and the planimetric disc area (DA) and evaluated the performance of DM/DD in discriminating between small and large discs. The ability of DM/DD to predict the actual DA was validated in a separate cohort of 200 eyes.

[Understanding Franz Kafka from the Neuroscientific Perspective].

Franz Kafka (1883-1924) was a novelist from what is now the Czech Republic, and is one of the figures who symbolize modern world literature. Although his works are more than 100 years old, Kafka displays amazing foresight regarding modern society; his writing portrays many original and unusual settings with extremely realistic expressions of individuals who find themselves in solitude caught in a huge inhuman system that typifies the current society. In this report, I discuss the association between such originality and Kafka's solitary interiority from a neuroscientific perspective.

Nurse-Led Screening-Triggered Early Specialized Palliative Care Program for Patients With Advanced Lung Cancer: A Multicenter Randomized Controlled Trial.

Background: We aimed to examine the effectiveness of a nurse-led, screening-triggered early specialized palliative care intervention program for patients with advanced lung cancer.

Methods: Patients with advanced lung cancer who underwent initial chemotherapy were randomized to intervention and usual care groups between January 2017 and September 2019. The intervention comprised comprehensive needs assessments, counseling, and service coordination by advanced-level nurses.

Pharmaceutical industry payments to healthcare professional organisations in the United Kingdom: a seven-year cross-sectional analysis of the Disclosure UK database from 2015 to 2021.

Objectives: This study aimed to examine the size and trends in payments from the pharmaceutical industry to healthcare professional organisations (HPOs) in the United Kingdom (UK), and to characterise the conflict of interest (COI) management plans by HPOs who received large payments.

Design: Cross-sectional analysis of non-research payments disclosed in the Disclosure UK database from 2015 to 2021.

Setting: United Kingdom.

Floating Inferior Glenohumeral Ligament: A Case Report.

A humeral avulsion of the glenohumeral ligament (HAGL lesion) is a relatively rare pathology seen in patients with traumatic anterior shoulder instability. A HAGL lesion combined with a Bankart lesion is called a floating inferior glenohumeral ligament (IGHL) and is rare. We report a case of floating IGHL that could not be diagnosed before surgery.

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying Variants Revealed Phenotypic Differences for Common Variants.

Background And Objectives: Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease. Approximately 10% of ALS cases are familial, and more than 20 causative genes have been identified. As we have previously reported, variants are the most common causes of familial ALS in Japan.

Financial conflicts of interest among authors of clinical practice guideline for headache disorders in Japan.

Background: Financial relationships between clinical guideline authors and pharmaceutical companies introduce conflicts of interest (COI), potentially biasing guideline recommendations. Thus, proper management of COI is paramount for clinical guideline authors. Nevertheless, little is known about COI among neurology clinical guideline authors.

Estimating the prevalence of and clarifying factors associated with multiple tobacco product use in Japan: a cross-sectional study in 2022.

BackgroundMultiple tobacco product (MTP) use is a public health concern due to their combined adverse health effects. MTP use may have increased since heated tobacco products (HTPs) became more prevalent in Japan. This study aimed to (1) estimate the recent prevalence of MTP use and clarify the associated factors compared to (2) non-smokers and (3) single-product users.

Next-generation sequencing analysis with a population-specific human reference genome.

Next-generation sequencing (NGS) has become widely available and is routinely used in basic research and clinical practice. The reference genome sequence is an essential resource for NGS analysis, and several population-specific reference genomes have recently been constructed to provide a choice to deal with the vast genetic diversity of human samples. However, resources supporting population-specific references are insufficient, and it is burdensome to perform analysis using these reference genomes.