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Abstract Background ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported. Case presentation A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected. Conclusions We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.

Abstract Background Self-efficacy plays an important role in enhancing the teaching capabilities of attending physicians (APs). The clinical ladder (CL) is an educational approach developed in the field of nursing education that increases difficulty in an incremental manner. However, no previous study has confirmed the effectiveness of CL in medical education. Therefore, this study aimed to examine the effect of clinical clerkship integrated with clinical ladder (CC-CL) on the self-efficacy of APs. Methods Sixth-year medical students participated in CC-CL for 6 months starting from April 2023, and the changes in the self-efficacy of APs were retrospectively evaluated. The students were trained by the APs concurrently, and the achievement levels of each student were shared. The primary outcome measure was the physician teaching self-efficacy questionnaire (PTSQ) score. The PTSQ scores before and after CC-CL were analyzed using the Wilcoxon matched-pair signed-rank test. Results Fifteen APs from the Department of Pediatric and Child Neurology were included in this study. No significant difference was observed in the total PTSQ scores of the APs before and after CC-CL. However, a significant increase was observed in the PTSQ score of APs who participated for at least 2 h per week over a period of more than 3 months (n = 8) after CC-CL (p = 0.022). Furthermore, APs who had received their pediatrician certification

Photoisomerizable molecules in liquid crystals (LCs) allow for photoinduced phase transitions, facilitating applications in a wide variety of photoresponsive materials. In contrast to the widely investigated azobenzene structure, research on the photoinduced phase-transition behavior of imine-based LCs is considerably limited. We herein report the thermal and photoinduced phase-transition behaviors of photoisomerizable imine-based LC dimers with twist–bend nematic (NTB) phases. We synthesize two homologous series of ester- and thioether-linked N-(4-cyanobenzylidene)aniline-based bent-shaped LC dimers with an even number of carbon atoms (n = 2, 4, 6, 8, and 10) in the central alkylene spacers, namely, CBCOOnSBA(CN) and CBOCOnSBA(CN), possessing oppositely directed ester linkages, C=OO and OC=O, respectively. Their thermal phase-transition behavior is examined using polarizing optical microscopy and differential scanning calorimetry. All dimers form a monotropic NTB phase below the temperature of the conventional nematic (N) phase upon cooling. Remarkably, the NTB phases of CBCOOnSBA(CN) (n = 2, 4, 6, and 8) and CBOCOnSBA(CN) (n = 6 and 8) supercool to room temperature and vitrify without crystallization. In addition, the phase-transition temperatures and entropy changes of CBCOOnSBA(CN) are lower than those of CBOCOnSBA(CN) at the same n. Under UV light irradiation, the NTB and N phases transition to the N and isotropic phases, respectively, and reversibly return to their initial LC phases when the UV light is turned off.

IntroductionThe incidence of autism spectrum disorder (ASD) in children is greater than 1%. Children with ASD show an increased rate of hospital contact for several reasons. Perioperative preparation for children with ASD can be challenging; therefore, obtaining information from patients’ families prior to surgery is important. However, no previous reports have described the collection of information from educational facilities.Case reportA 12 years-old male patient with ASD was referred for surgery for traumatic dislocation of the left knee joint. Before admission, we obtained valuable information from his parents regarding expected behavioral problems and coping strategies during hospitalization and from his teachers at his school for special needs education. In particular, the information obtained from teachers was specific and practical. Consequently, we could effectively conduct perioperative management based on his specific autistic characteristics.ConclusionWe report a pediatric case of ASD in which favorable perioperative management was successfully achieved by collecting information before admission from family members as well as teachers at the patient’s school for special needs education. This management may help in future hospital admissions for children with autism.

ObjectiveThe employment outcomes of childhood-onset drug-resistant epilepsy (DRE) has not been studied enough. The aim of this retrospective cohort study is to investigate the employment outcomes of childhood-onset DRE in June 2022 and identify the risk factors associated with non-employment.Materials and methodsThe sample consisted of 65 participants ≥18 years of age with a history of childhood-onset DRE. Fifty participants (77%) were salaried employees and 15 participants (23%) were non-employed. Clinical and psychosocial information were evaluated for calculating the relative risk (RR) of non-employment.ResultsRegarding medical factors, lower IQ [RR, 0.645; 95% confidence interval (CI), 0.443–0.938; p = 0.022] was positively associated with employment. In contrast, age at follow-up (RR, 1.046; 95% CI, 1.009–1.085; p = 0.014); number of ASMs at follow-up (RR, 1.517; 95% CI, 1.081–2.129; p = 0.016); use of medications such as phenobarbital (RR, 3.111; 95% CI, 1.383–6.997; p = 0.006), levetiracetam (RR, 2.471; 95% CI, 1.056–5.782; p = 0.037), and topiramate (RR, 3.576; 95% CI, 1.644–7.780; p = 0.001) were negatively associated with employment. Regarding psychosocial factor, initial workplace at employment support facilities (RR, 0.241; 95% CI, 0.113–0.513; p

IntroductionChildren with infantile epileptic spasms syndrome (IESS) are likely to experience poor outcomes. Researchers have investigated the factors related to its long-term prognosis; however, none of them developed a predictive model.ObjectiveThis study aimed to clarify the factors that influence the long-term prognosis of seizures and their development and to create a prediction model for IESS.Materials and methodsWe conducted a retrospective cohort study enrolling participants diagnosed with IESS at the Tottori University Hospital. We examined the seizure and developmental status at 3 and 7 years after the IESS onset and divided the participants into favorable and poor outcome groups. Subsequently, we analyzed the factors associated with the poor outcome group and developed a prediction model at 3 years by setting cutoff values using the receiver operating characteristic curve.ResultsData were obtained from 44 patients with IESS (19 female patients and 25 male patients). Three years after epileptic spasms (ES) onset, seizure and development were the poor outcomes in 15 (34.9%) and 27 (61.4%) patients, respectively. The persistence of ES or tonic seizures (TS) after 90 days of onset, moderate or severe magnetic resonance imaging abnormalities, and developmental delay before IESS onset were significantly associated with poor outcomes. Seven years after the onset of ES, seizures and development were the poor outcomes in 9 (45.0%) and 13 (72.2%) patients, respectively. We found that no factor was significantly associated with poor seizure outcomes, and only developmental delay before IESS onset was significantly associated with poor developmental outcomes. Our prediction model demonstrated 86.7% sensitivity and 64.3% specificity for predicting poor seizure outcomes and 88.9% sensitivity and 100% specificity for predicting poor developmental outcomes.ConclusionOur prediction model may be useful for predicting the long-term prognosis of seizures and their development after 3 years. Understanding the long-term prognosis during the initial treatment may facilitate the selection of appropriate treatment.

The twist–bend nematic (NTB) phase is a liquid crystal (LC) phase with a heliconical structure that typically forms below the temperature of the conventional nematic (N) phase. By contrast, the direct transition between the NTB and isotropic (Iso) phases without the intermediation of the N phase rarely occurs. Herein, we demonstrate the effects of linkage type (i.e., methylene, ether, and thioether) on the typical Iso–N–NTB and rare direct Iso–NTB phase-transition behaviors of cyanobiphenyl (CB) dimers CB3CB, CB2OCB, and CB2SCB bearing three-atom-based propane, ethoxy, and ethylthio spacers, respectively. In our previous study, CB2SCB exhibited the monotropic direct Iso–NTB phase transition. In this study, we report that CB3CB also shows the direct Iso–NTB phase transition, whereas CB2OCB exhibits the typical Iso–N–NTB phase sequence with decreasing temperature. The Iso–LC (Iso–NTB or Iso–N) phase-transition temperatures upon cooling show the order CB2OCB (108 °C) > CB3CB (49 °C) > CB2SCB (43 °C). The thioether-linked CB2SCB is vitrifiable, whereas CB3CB and CB2OCB exhibit strong crystallization tendencies. The phase-transition behaviors are also discussed in terms of the three bent homologous series with different oligomethylene spacers n: CBnCB, CBnOCB, and CBnSCB.

Hypertension is a rare complication of Leigh Syndrome (LS), but prognosis of patients with hypertension is poor and its presence is indicative of the terminal stage of the disease. Herein, we report a four-year-old girl case diagnosed with LS at 15 months of age who subsequently developed severe hypertension and respiratory failure. Physical examination and laboratory findings did not indicate a secondary cause of hypertension. Her respiratory failure was treated with non-invasive ventilation and hypertension controlled with enalapril, furosemide and spironolactone. To our knowledge, this is the first case of a patient with LS recovering from severe hypertension.

The widespread adoption of long-term organs-on-a-chip culture necessitates both active perfusions that mimic physiological flow conditions and minimization of the complexity of microfluidic system and fluid handling. In particular, flow in microtissue such as microvascular is free of pulsation and backflow. The refreshable Braille actuator-based integrated microfluidic system can be employed with simple microchannels and setups. However, due to high pulsatile flow and backflow, ordinary Braille-driven micropumps generate non-physiological flow conditions. We have described a simple method for creating steady flow employing Braille actuators driven with a high-voltage analog waveform, called “constant flow waveform”, without incorporating complicated structures into the microchannel or actuator. We determined the constant flow waveform by measuring volume change of microchannel caused by actuated Braille pins using a conventional fluorescent dye and microscope. Using the constant flow waveform, we demonstrated that a Braille-driven pump reduced pulsating flow by 79% and backflow by 63% compared to conventional Braille-driven pump. Furthermore, we demonstrated that a parallel pair of three-stranded pin pumps effectively eliminated backflow by driving two pumps with the constant flow waveform half-cycle shifted to each other. Moreover, by raising the driving frequency, we could increase the average flow rate to ~2× higher than previously reported flow rate of a typical Braille-driven micropump.

This paper presents a numerical solution to multi-objective shape optimization in order to achieve stiffness maximization in thermoelastic fields. Compliance evaluated by thermal deformation based on temperature distribution and by mechanical deformation based on surface force or body force is used as an objective functional by using weighting method. Shape gradient of the multi-objective shape problem is derived theoretically using the Lagrange multiplier method, adjoint variable method, and the formulae of the material derivative. Reshaping is carried out by the traction method proposed as an approach to solving shape optimization problems. Numerical analyses program for the shape optimization is developed based on FreeFem++, and the validity of proposed method is confirmed by results of 2D numerical analyses.

Background: In Japan, approximately 35% of facilities experience sedation-related complications for pediatric magnetic resonance imaging (MRI), including severe complications such as respiratory and cardiac arrests. In the medical education field, simulation improves not only the quality of real emergency response but also health care workers' self-efficacy. Individuals with high self-efficacy are better prepared at handling diverse conditions. However, there is no research examining the impact of sedation simulation for pediatric MRI on the self-efficacy of health care workers. This study aimed to retrospectively investigate the impact of sedation simulation for pediatric MRI on the self-efficacy of health care workers in sedation. Methods: The study was conducted on August 18, 2023, and enrolled pediatricians, nurses, and radiological technologists. The impact of sedation simulation for pediatric MRI on the participants was analyzed using confidence scale scores and part of the Pediatric Resuscitation and Escalation of Care Self-Efficacy Scale (PRSES), before and after sedation simulation for pediatric MRI. Results: Eighteen participants (six pediatricians, six nurses, and six radiological technologists) were included in this study. Regarding confidence scale scores, a significant improvement was observed in the overall group (P = 0.002) and among the nurses (P = 0.0036). Regarding the item 'When confronted with a clinically deteriorating child, I know how to ask for assistance' of PRSES, a significant improvement was observed in the overall group (P = 0.0035) and among the radiological technologists (P = 0.048). Conclusion: There's a potential for sedation simulation for pediatric MRI to increase the self-efficacy of health care workers in MRI sedation. Our findings suggest that this training has a valuable role in preparing health care workers to practice sedation for pediatric MRI. [ABSTRACT FROM AUTHOR]