Guided Internet-Based Cognitive Behavioral Therapy for Women With Bulimia Nervosa: Protocol for a Multicenter Randomized Controlled Trial.

BACKGROUND: Individual face-to-face cognitive behavioral therapy is known to be effective for bulimia nervosa (BN). Since foods vary considerably between regions and cultures in which patients live, cultural adaptation of the treatment program is particularly important in cognitive behavioral therapy for BN. Recently, an internet-based cognitive behavioral therapy (ICBT) program was developed for Japanese women with BN, adapted to the Japanese food culture. However, no previous randomized controlled trial has examined the effectiveness of ICBT. OBJECTIVE: This paper presents a research protocol for strategies to examine the effects of guided ICBT. METHODS: This study is designed as a multicenter, prospective, assessor-blinded randomized controlled trial. The treatment groups will be divided into treatment as usual (TAU) alone as the control group and ICBT combined with TAU as the intervention group. The primary outcome is the total of binge eating and purging behaviors assessed before and after treatment by an independent assessor. Secondary outcomes will include measures of eating disorder severity, depression, anxiety, quality of life, treatment satisfaction, and working alliances. Treatment satisfaction and working alliances will be measured post assessment only. Other measures will be assessed at baseline, post intervention, and follow-up, and the outcomes will be analyzed on an intention-to-treat basis. RESULTS: This study will be conducted at 7 different medical institutions in Japan from August 2022 to October 2026. Recruitment of participants began on August 19, 2022, and recruitment is scheduled to continue until July 2024. The first participants were registered on September 8, 2022. CONCLUSIONS: This is the first multicenter randomized controlled trial in Japan comparing the effectiveness of ICBT and TAU in patients with BN. TRIAL REGISTRATION: University Hospital Medical Information Network UMIN000048732; https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000055522. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/49828.

Sensory processing in children and adolescents shortly after the onset of anorexia nervosa: a pilot study.

BACKGROUND: Alterations in sensory processing, such as vision, taste, and interoceptive sensation, have been reported in adult anorexia nervosa (AN). Whether these symptoms are traits, states, or "scars" due to chronic starvation has not been fully established. Based on the hypothesis that alterations in sensory processing also occur in adolescent AN in the early stages of the disease, the present study was conducted using both self-administered and parent-administered sensory processing questionnaires. METHODS: Children and adolescents with anorexia nervosa treated at a single tertiary eating disorder treatment center in Japan (AN group) and female junior high school students attending a public junior high school in Saitama Prefecture, Japan (healthy control group: HC group) were included in the study. The Sensory Profile (SP) and Adult/Adolescent Sensory Profile (AASP) were administered to the participants and their caregivers. In addition, we collected demographic data and administered the Children's Eating Attitude Test and Autism-Spectrum Quotient Children's version. RESULTS: Seventeen children and adolescents were enrolled in the AN group, and 63 were enrolled in the HC group. There was no statistically significant difference between the AN and HC groups in the quadrant scores of the AASP. In the SP, the Sensory Avoiding score and the Emotional/Social response score were higher in the AN group than in the HC group. CONCLUSION: From the parents' point of view, the patient avoids unexpected sensory stimuli, but the patients are unaware of their own avoiding behavior in the early stages of the disease. The results suggest that sensory sensitivity in AN may be a "scar" symptom due to chronic starvation and a state symptom. Longitudinal studies from shortly after the onset with larger sample sizes are needed to gain insight into the dynamic relation between sensory processing and eating disorder pathology.

Open-case series of a remote administration and group setting comprehensive behavioral intervention for tics (RG-CBIT): A pilot trial.

Purpose: The comprehensive behavioral intervention for tics (CBIT) is the first-line psychotherapeutic treatment for individuals with tic disorders. However, most patients with tic disorders do not have access to CBIT due to different factors including lack of trained therapists, treatment cost, and travel distance. Such barriers are more prominent in non-English speaking countries. Therefore, the current study assessed the preliminary efficacy, feasibility, and acceptability of remotely administered group CBIT (RG-CBIT) in Japan. Methods: This was an open-case series that adopted the AB design. Three Japanese children aged between 6 and 13 years who were diagnosed with TS were recruited. RG-CBIT was developed based on the published CBIT manual. Videoconference application, slide presentation software, and cloud learning platform were used as appropriate. Results: The Yale Global Tic Severity Scale scores of all participants decreased from baseline to post-treatment. That is, the score reduced by an average of 7.0. Regarding feasibility and acceptability, the attendance rate of participants was 100%, and the process measurement items had favorable scores. Conclusions: RG-CBIT had satisfactory efficacy, feasibility, and acceptability. Hence, it could mitigate the barriers for treatment access.

Current Status of Internet Gaming Disorder (IGD) in Japan: New Lifestyle-Related Disease in Children and Adolescents.

The World Health Organization recognizes internet gaming disorder (IGD) as a disorder that causes problems in daily life as a result of excessive interest in online games. The causes of IGD have become more apparent in recent years. Because of prolonged exposure to games, the mechanisms controlling the reward system, such as the prefrontal cortex, limbic system, and amygdala of the cerebrum, do not function properly in IGD. This mechanism is similar to that of various behavioral addictions, such as gambling addiction. IGD is particularly risky in children and adolescents because it easily causes brain dysfunction, especially in the developing brain. IGD should be regarded as a new lifestyle-related disease in younger individuals, and lifestyle modifications, including counseling and family therapy, are critical for its management.

The Japanese version of the children's sleep habits questionnaire (CSHQ-J): A validation study and influencing factors.

SUBJECT: This study aimed to validate the Japanese version of the Child's Sleep Habits Questionnaire (CSHQ-J) and identify which factors affect the CHSQ-J total score. METHODS: The participants were 3158 children (aged 4-12 years) and their parent/guardian, as community samples from large, medium-sized, and small cities. Each parent/guardian filled in the questionnaire set (CSHQ-J, Pittsburgh Sleep Quality Index, demographic data: family structure, sleep environment, participants' present illness, and economic information); we also collected 51 clinical samples from our facility to calculate the cutoff score. According to the age of the participants in the original CSHQ (4-10 years), validation was assessed statistically via exploratory and confirmatory factor analyses and internal consistency (verified by Cronbach's α). Multivariate analysis was conducted to identify factors affecting the CSHQ-J total score. RESULTS: We received responses from 2687 participants (response rate: 85%) and analyzed 1688 participants who were the age of the original CSHQ participants. The alpha coefficients of each subscale of the CSHQ-J ranged from 0.43 to 0.68. The cutoff score was 48 (sensitivity: 0.69, specificity: 0.79). The confirmatory and exploratory factor analyses did not converge. Multivariate analysis showed that the factors that significantly influenced the CSHQ-J total score were co-sleeping, supplemental sleep, and child's age. Present illness, especially adenoids, also significantly influenced CSHQ total score. CONCLUSIONS: The CSHQ-J has adequate internal consistency and is useful for screening for pediatric sleep disorders. Supplemental sleep, habit of co-sleeping, and child's age should be considered when using the CSHQ-J as a screening tool for sleep problems in children.

Adolescent Health Promotion Interventions Using Well-Care Visits and a Smartphone Cognitive Behavioral Therapy App: Randomized Controlled Trial.

BACKGROUND: Adolescent health promotion is important in preventing risk behaviors and improving mental health. Health promotion during adolescence has been shown to contribute to the prevention of late onset of the mental health disease. However, scalable interventions have not been established yet. OBJECTIVE: This study was designed to test the efficacy of two adolescent health promotion interventions: a well-care visit (WCV) with a risk assessment interview and counseling and self-monitoring with a smartphone cognitive behavioral therapy (CBT) app. Our hypothesis was that participants who had received both WCV and the CBT app would have better outcomes than those who had received only WCV or those who had not received any intervention. We conducted a prospective multi-institutional randomized controlled trial. METHODS: Participants were 217 adolescents aged 13-18 years. They were randomly divided into two intervention groups (WCV group and WCV with CBT app group) and a nonintervention group. WCV comprised a standardized physical examination along with a structured interview and counseling for youth risk assessment, which was designed with reference to the Guideline for Health Supervision of Adolescents of Bright Futures. A smartphone-based CBT program was developed based on the CBT approach. The CBT app comprised a 1-week psychoeducation component and a 1-week self-monitoring component. During the CBT program, participants created several self-monitoring sheets based on the CBT model with five window panels: event, thoughts, feelings, body response, and actions. The primary outcome was the change in scores for depressive symptoms. Secondary outcomes included changes in scores for self-esteem, quality of life, self-monitoring, and an adolescent health promotion scale. These outcomes were evaluated at baseline and at 1, 2, and 4 months after baseline. The exploratory outcome was the presence of suicidal ideation during the observation period. Intervention effects were estimated using mixed effect models. RESULTS: In total, 94% (204/217) of the participants completed the 4-month evaluation. Both intervention groups showed a significant effect in the form of reduced scores for depressive symptoms at 1 month in high school students; however, these effects were not observed at 2 and 4 months. The intervention effect was significantly more predominant in those scoring above cutoff for depressive symptoms. There was significantly less suicidal ideation in the intervention groups. As for secondary outcomes, there was significant increase in health promotion scale scores at the 4-month follow-up among junior high school students in the WCV group. Moreover, the CBT app was significantly effective in terms of obtaining self-monitoring skills and reducing depressive symptoms. CONCLUSIONS: Although adolescent health promotion interventions may have short-term benefits, the frequency of WCV and further revision of the CBT app should be considered to evaluate long-term effectiveness. TRIAL REGISTRATION: University Hospital Medical Information Network Clinical Trials Registry UMIN 000036343; https://center6.umin.ac.jp/cgi-open-bin/ctr/ctr_view.cgi?recptno=R000041246.

Cerebellar tonsillar herniation in sudden death of an adolescent anorexia nervosa patient: a case report.

BACKGROUND: Anorexia nervosa not only results in severe malnutrition but also carries a high risk of sudden death. Although fatal arrhythmias are the most common cause of sudden death, it is often unclear what exactly causes them. To the best of our knowledge, there have been no reports of cerebellar tonsillar herniations in patients with anorexia nervosa. CASE PRESENTATION: A 17-year-old girl with anorexia nervosa and autism spectrum disorder was admitted to the pediatric ward for extreme weight loss. Since she refused to take oral nutrition or tube feeding, we started continuous intravenous fluids. Eight hours after admission, she suddenly went into cardiopulmonary arrest and died despite resuscitation. A postmortem autopsy revealed the unexpected findings of generalized severe cerebral edema and cerebellar tonsillar herniation. CONCLUSION: Intracranial hypertension may need to be considered when the condition of patients with anorexia nervosa suddenly worsens during refeeding periods. Postmortem autopsy and autopsy imaging are recommended to determine the exact cause of sudden death. LEVEL OF EVIDENCE: Level IV: Evidence obtained from multiple time series analysis such as case studies. (NB: Dramatic results in uncontrolled trials might also be regarded as this type of evidence).

A pilot study of combining social skills training and parenting training for children with autism spectrum disorders and their parents in Japan.

The purpose of this study is to investigate the effects of a program containing a combination of social skills training (SST) and parenting training (PT) for the enrichment of social interaction skills and reduction of parenting stress for children with high-functioning autism spectrum disorder (HFASD) and their parents in Japan. Twenty-two patients with HFASD from second to fourth grade and their parents were assigned to a training group (TG) or treatment as usual (TAU) and compared. The children with HFASD and their parents who were assigned to the TG participated in the manualized program for over a period of five to six months. Subjects provided demographic and medical information and completed teacher and parent-rating scales for social competence (Social Responsiveness Scale-2: SRS-2) and parent-rating of parenting stress (Parental Stress Index: PSI) and mental health (General Health Questionnaire-28: GHQ-28). The participants exhibited some improvements pre-, middle-, and post-treatment, particularly regarding the GHQ, PSI and SRS-2, as reported by parents. However, the social skills improvement reported by teachers was not significant. At the three-month follow-up, parent-rated GHQ and PSI maintained improvement, and SRS-2 achieved the greatest improvement from the baseline rating. Although some findings indicate that a program combination of SST and PT might be useful for enhancing social skills and improving parental stress and mental health, some subscales did not show a sufficient effect. Future research should consider program contents and provide longitudinal follow-up data to test the durability of the treatment.

Prevalence of autism spectrum disorder and autistic traits in children with anorexia nervosa and avoidant/restrictive food intake disorder.

BACKGROUND: Autism spectrum disorder (ASD) and feeding and eating disorders (FEDs) such as anorexia nervosa (AN) are strongly linked as evidenced by frequent comorbidity and overlapping traits. However, eating and social behaviors are shaped by culture, so it is critical to examine these associations in different populations. Moreover, FEDs are heterogeneous, and there has been no examination of autistic traits in avoidant/restrictive food intake disorder (ARFID). METHODS: Therefore, we investigated the prevalence of ASD and autistic traits among Japanese children with AN (n = 92) or ARFID (n = 32) from a prospective multicenter cohort study using the Autism Spectrum Quotient Children's version (AQC) and Children's Eating Attitudes Test (ChEAT26). RESULTS: ASD prevalence was high in both AN and ARFID (16.3 and 12.5%, respectively). The AN group exhibited significantly higher scores on all AQC subscales than an age-matched healthy control (HC) group, but there were no significant correlations between AQC scores and ChEAT26 scores. In the AFRID group, AQC scores did not differ from HCs, but significant correlations were found between total AQC and ChEAT26 scores and between several AQC and ChEAT26 subscales. CONCLUSIONS: Both the AN and ARFID groups had high prevalence rates of ASD. The AN group showed a significantly higher degree of autistic traits than the HC group; however, no difference was found between the ARFID and HC groups. Clinicians need to be aware of these rates when working with children with ED.

Psychometric properties of the Eating Disorder Examination-Questionnaire and psychopathology in Japanese patients with eating disorders.

OBJECTIVE: The Eating Disorder Examination-Questionnaire (EDE-Q) is one of the most widely used tools to assess the core psychopathology of eating disorders (ED). However, recent empirical findings did not support the original four-factor structure. The aims of the present study were to investigate the factor structure of the EDE-Q in Japanese ED patients, to test the reliability and convergent validity of the EDE-Q, to examine group differences between various ED groups and healthy participants, and to explore the main behavioral features of Japanese ED patients using the newly developed Japanese version of EDE-Q. METHOD: A total of 148 ED patients and 469 healthy participants completed the EDE-Q, Eating Attitudes Test-26 (EAT-26), and Eating Disorder Inventory-2 (EDI-2). The factor structure, reliability, and validity of the EDE-Q were assessed in ED patients. Group differences were assessed using the new Japanese version of the EDE-Q (EDE-Q-J). RESULTS: The EDE-Q-J had three factors. Cronbach's alphas ranged from 0.83 to 0.93. Total score and subscale scores of "Dieting" and "Bulimia and Food Preoccupation" of EAT-26 and of "Drive for Thinness," "Body Dissatisfaction," and "Bulimia" of EDI-2 correlated with the global score and three subscale scores of the EDE-Q-J. DISCUSSION: For Japanese female ED patients, the EDE-Q-J had three subscales that were not consistent with the original subscales, but were interpretable. It demonstrated sufficient reliability and validity. Japanese female patients with restricting-type anorexia nervosa (AN-R) displayed less dissatisfaction with shape and weight than healthy participants. AN-R patients in Japan might present with a non-fat-phobic symptom profile.

Acute administration of methylphenidate differentially affects cortical processing of emotional facial expressions in attention-deficit hyperactivity disorder children as studied by functional near-infrared spectroscopy.

Significance: It has been reported that children with attention-deficit hyperactivity disorder (ADHD) have impairment in the recognition of angry but not of happy facial expressions, and they show atypical cortical activation patterns in response to facial expressions. However, little is known about neural mechanisms underlying the impaired recognition of facial expressions in school-aged children with ADHD and the effects of acute medication on their processing of facial expressions. Aim: We aimed to investigate the possibility that acute administration of methylphenidate (MPH) affects processing of facial expressions in ADHD children. Approach: We measured the hemodynamic changes in the bilateral temporo-occipital areas of ADHD children observing the happy and angry facial expressions before and 1.5 h after MPH or placebo administration in a randomized, double-blind, placebo-controlled, crossover design study. Results: We found that, regardless of medication, happy expressions induced increased oxyhemoglobin (oxy-Hb) responses in the right inferior occipital region but not in the superior temporal region. For angry expressions, oxy-Hb responses increased after MPH administration, but not after placebo administration, in the left inferior occipital area, whereas there was no significant activation before MPH administration. Conclusions: Our results suggest that (1) ADHD children consistently recruit the right inferior occipital regions to process happy expressions and (2) MPH administration to ADHD children enhances cortical activation in the left inferior occipital regions when they process angry expressions.

Hemodynamic response to familiar faces in children with ADHD.

BACKGROUND: School-age children with attention deficit hyperactivity disorder (ADHD) have difficulties in interpersonal relationships, in addition to impaired facial expression perception and recognition. For successful social interactions, the ability to discriminate between familiar and unfamiliar faces is critical. However, there are no published reports on the recognition of familiar and unfamiliar faces by children with ADHD. METHODS: We evaluated the neural correlates of familiar and unfamiliar facial recognition in children with ADHD compared to typically developing (TD) children. We used functional near-infrared spectroscopy (fNIRS) to measure hemodynamic responses on the bilateral temporal regions while participants looked at photographs of familiar and unfamiliar faces. Nine boys with ADHD and 14 age-matched TD boys participated in the study. fNIRS data were Z-scored prior to analysis. RESULTS: During familiar face processing, TD children only showed significant activity in the late phase, while ADHD children showed significant activity in both the early and late phases. Additionally, the boys with ADHD did not show right hemispheric lateralization to familiar faces. CONCLUSIONS: This study is the first to assess brain activity during familiar face processing in boys with ADHD using fNIRS. These findings of atypical patterns of brain activity in boys with ADHD may be related to social cognitive impairments from ADHD.

Validation of a childhood eating disorder outcome scale.

We developed and validated a childhood eating disorder outcome scale based on outcomes associated with body mass index standard deviation score (BMI-SDS). This prospective observational study included 131 children with eating disorders (aged 5-15 years). Participants' outcomes scales were completed at the first visit and at 1, 3, 6, and 12 months. The scale evaluated 12 outcomes: body weight change (BW), eating attitude (EA), fear of being fat (FF), body image distortion (BD), menstruation (ME), perceived physical condition (PC), attending school (AS), disease recognition by school (RS), family function (FA), disease recognition by parent (RP), social adaptation (SA), and relationships with friends (RF). Responses to all items were on a four-point Likert scale. Exploratory factor analysis was used to determine the number of factors based on the 12 outcomes. The relation between outcome scale scores and BMI-SDS over the 12-month follow-up period was analyzed. Two types of factors were extracted: disease-specific factors (EA, FF, BD) and biopsychosocial factors (BW, PC, AS, FA, SA, RF). Three items (ME, RS, RP) were excluded because they showed no significant loading effect. There was a significant negative correlation between the outcome scale and BMI-SDS, and changes in outcome scale scores from baseline to 12 months were significantly associated with improvement in BMI-SDS. We developed a childhood eating disorder outcome scale characterized by disease-specific and biopsychosocial factors. Biopsychosocial management combined with a therapeutic approach for disease-specific symptoms may support body weight recovery for children with eating disorders.

Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy.

The co-occurrence of resistance to thyroid hormone beta (RTHß) and myotonic dystrophy type 1 (DM1) was observed in a Japanese family. Two mutations, P453A and C36Y, were identified in the thyroid hormone receptor beta (THRB) gene. Whereas family members with THRBP453A exhibited RTHß, two members with THRBC36Y but without THRBP453A had normal thyroid function. Two members, one with RTHß and the other without, had a triplet expansion in the dystrophia myotonia protein kinase gene, a hallmark of DM1. The member with both RTHß and DM1 developed atrial fibrillation at the age of 16 years, suggesting a synergistic impact on the heart.

[The characteristics of social skills, school maladjustment and stress responses in junior high school students with autism spectrum disorder].

Objective: The purpose of this study was to test difference between the social skills of adolescents with autism spectrum disorder (ASD) and their typically developing students." Methods: Participants were 299 junior high school students from public schools. The group included 19 junior high school students with ASD. Participants responded to self-rated questionnaire on social skills, school maladjustment, and stress. Results: Results showed that adolescent with ASD had mental health difficulties (in stress responses and school maladjustment) and poor social skills as compared to their typically developing peers. A cluster analysis was conducted by dividing the participants into the following four groups based on their z-scores on the social skills scale: "low skill type", "low skill of continuing relationship type", "well-balance type", and "inactive type". A Chi-square test revealed that a greater portion of the ASD group included students belonging to the "inactive, authoritative and low type" and "inactive type" cluster as compared to the typically developing group. Conclusions: The Adolescent with ASD have social skills characterized by inactive type that poor entry skills.

A questionnaire survey regarding the support needed by Yogo teachers to take care of students suspected of having eating disorders (second report).

BACKGROUND: The lowering of the age of onset and chronicity have been key problems related to eating disorders (EDs). As the proportion of teens in the estimated onset ages has increased, it has become important to detect students with EDs and to clarify how they can be supported. Though epidemiological surveys of Yogo teachers (school nurse/health science teachers) have been conducted to inquire about the number of such students, none of these were done according to ED type based on DSM-5. Thus, we conducted a wide area survey in Japan with the goal of proposing a better framework of support for Yogo teachers in their efforts to care for students with EDs. METHODS: A questionnaire survey organized by ED type (based on DSM-5) was administered to Yogo teachers working at elementary/junior high/senior high/special needs schools in four prefectures of Japan in 2015, and 1,886 responses were obtained. Based on the results, the encounter rates (the proportion of Yogo teachers who had encountered a student with an ED) were calculated, and factors that could affect the rates were examined by logistic regression analysis. RESULTS: The order of the encounter rates of the ED types was as follows: Anorexia Nervosa (AN) > Bulimia Nervosa (BN) > Avoidant/Restrictive Food Intake Disorder (ARFID) > Binge Eating Disorder (BED) > Others. The factors significantly affecting the rates were "location, school type, number of students, experience years, and AN knowledge" for AN, "school type, experience years, and BN knowledge" for BN, "school type, experience years, and BED knowledge" for BED, "location, experience years, and ARFID knowledge" for ARFID, and "school type, experience years, and Others knowledge" for Others. CONCLUSIONS: Because the encounter rate of AN was the highest, providing support for AN would be the most effective. Moreover, one factor that affected the encounter rate of all ED types was ED knowledge. In addition to this, senior high schools had the highest encounter rates for AN, BN and BED, and special needs schools had the highest rates for Others. These findings imply that, in order to detect and support ED students at an early stage, it is necessary to offer knowledge of the most prevalent ED types to Yogo teachers at the corresponding school type.

A Questionnaire Survey of the Type of Support Required by Yogo Teachers to Effectively Manage Students Suspected of Having an Eating Disorder.

BACKGROUND: Many studies have focused on the decreasing age of onset of eating disorders (EDs). Because school-age children with EDs are likely to suffer worse physical effects than adults, early detection and appropriate support are important. The cooperation of Yogo teachers is essential in helping these students to find appropriate care. To assist Yogo teachers, it is helpful to clarify the encounter rates (the proportion of Yogo teachers who have encountered ED students) and kinds of requested support (which Yogo teachers felt necessary to support ED students). There are no studies that have surveyed the prevalence rates of ED children by ED type as defined by the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), nor were we able to find any quantitative study surveying the kinds of support Yogo teachers feel helpful to support ED students. METHODS: A questionnaire survey was administered to 655 Yogo teachers working at elementary/junior high/senior high/special needs schools in Chiba Prefecture. The questionnaire asked if the respondents had encountered students with each of the ED types described in DSM-5 (anorexia nervosa (AN), bulimia nervosa (BN), binge eating disorder (BED), avoidant/restrictive food intake disorder (ARFID), and other types of EDs (Others)), and the kinds of support they felt necessary to support these students. The encounter rates and the kinds of requested were obtained and compared, taking their confidence intervals into consideration. RESULTS: The encounter rates for AN, BN, BED, ARFID, and Others were 48.4, 14.0, 8.4, 10.7, and 4.6 %, respectively. When classified by school type, AN, BN, BED, and ARFID had their highest encounter rates in senior high schools. Special needs schools had the highest rate for Others. The support most required for all ED types was "a list of medical/consultation institutions." CONCLUSIONS: Our results have clarified how to support Yogo teachers in the early detection and support of ED students. We found that the encounter rate of AN was the highest, and that it is effective to offer "a list of medical/consultation institutions" to junior and senior high schools where the encounter rates for AN are high.

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.

CONTEXT: Mitochondrial diabetes is a rare form of diabetes mellitus accounting for up to 1% of all diabetes. Pyruvate therapy has been reported to be a potential therapeutic choice for patients with mitochondrial diseases. CASE DESCRIPTION: Water-based sodium pyruvate solutions (0.5 g/kg, thrice daily) were administrated orally to a 32-year-old Japanese male with mitochondrial diabetes and myopathy caused by m.14709T>C mutation. At the age of 20 years, he was diagnosed with diabetes mellitus and started insulin therapy. He tested negative for islet cell and glutamic decarboxylase antibodies. To evaluate favorable therapeutic improvements, we measured the lactate and pyruvate levels in plasma and cerebrospinal fluid; urinary C-peptide, glycated hemoglobin, and glycoalbumin levels; and total daily insulin dose (TDD). The patient experienced no side effects such as diarrhea because of pyruvate therapy. His urinary C-peptide level improved from 4.3 to 17.2 µg/d after 1 day and to 30.2 µg/d after 6 months of pyruvate therapy. TDD decreased from 33 to 20 U/d after 6 months of pyruvate therapy, but the lactate levels of plasma and cerebrospinal fluid and the lactate/pyruvate ratio did not change. CONCLUSIONS: Sodium pyruvate improved insulin secretion and resulted in decreased TDD in a patient with mitochondrial diabetes. Pyruvate therapy may be a potential therapeutic choice for patients with mitochondrial diabetes. Clinical trials involving a larger number of patients and long-term evaluation of the therapy are necessary to clarify the efficacy of pyruvate therapy.

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.

Moyamoya disease (MMD) is a chronic steno-occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD-susceptibility gene in East Asian populations. We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD. Magnetic resonance angiography (MRA) showed severe stenosis of the left internal carotid artery (ICA), terminal portion of the left ICA, and left origin of the posterior cerebral artery. Genetic testing indicated a heterozygous c.14429G > A (formerly described as c.14576G > A) variant in RNF213. The boy's mother had no neurological symptoms, but sequencing of RNF213 showed the same variant, and MRA indicated stenosis of the terminal bilateral ICA. This is the first report, to our knowledge, of different MMD phenotypes in a familial case involving the same heterozygous c.14429G > A variant in RNF213. Genetic testing for RNF213 is suggested for family member screening.

Differences in the Pattern of Hemodynamic Response to Self-Face and Stranger-Face Images in Adolescents with Anorexia Nervosa: A Near-Infrared Spectroscopic Study.

There have been no reports concerning the self-face perception in patients with anorexia nervosa (AN). The purpose of this study was to compare the neuronal correlates of viewing self-face images (i.e. images of familiar face) and stranger-face images (i.e. images of an unfamiliar face) in female adolescents with and without AN. We used near-infrared spectroscopy (NIRS) to measure hemodynamic responses while the participants viewed full-color photographs of self-face and stranger-face. Fifteen females with AN (mean age, 13.8 years) and 15 age- and intelligence quotient (IQ)-matched female controls without AN (mean age, 13.1 years) participated in the study. The responses to photographs were compared with the baseline activation (response to white uniform blank). In the AN group, the concentration of oxygenated hemoglobin (oxy-Hb) significantly increased in the right temporal area during the presentation of both the self-face and stranger-face images compared with the baseline level. In contrast, in the control group, the concentration of oxy-Hb significantly increased in the right temporal area only during the presentation of the self-face image. To our knowledge the present study is the first report to assess brain activities during self-face and stranger-face perception among female adolescents with AN. There were different patterns of brain activation in response to the sight of the self-face and stranger-face images in female adolescents with AN and controls.