A rare case of schwannoma of the small intestine discovered during intussusception.

A woman in her 60s with anemia was diagnosed with a small intestinal intussusception on computed tomography. She underwent a double-balloon endoscopy, which revealed submucosal tumor in the ileum. Suspected to be the cause of anemia and intussusception, surgical intervention was carried out, revealing it to be a schwannoma. Schwannomas of the small intestine are very rare, and because exophytic growths are common, intussusception due to luminal side development is even rarer.

Asymptomatic intestinal tuberculosis of the terminal ileum diagnosed on colonoscopy: a case report and literature review.

Objective: Colonoscopy is useful in diagnosing intestinal tuberculosis. However, the terminal ileum is generally not examined during routine colonoscopy. Therefore, even with colonoscopy, the diagnosis can be missed in patients with lesions confined to the terminal ileum. Herein, we report the case of an asymptomatic patient with intestinal tuberculosis, in whom a colonoscope insertion into the terminal ileum led to the diagnosis. Patient: An asymptomatic 71-year-old man visited our hospital for a colonoscopy after a positive fecal occult blood test. Results: Colonoscopy revealed diffuse edematous and erosive mucosa in the terminal ileum. Mycobacterium tuberculosis was detected by polymerase chain reaction and culture of biopsy specimens from the erosions, leading to the diagnosis of intestinal tuberculosis. The patient was treated with antitubercular agents for 6 months, and a follow-up colonoscopy revealed healing of the lesions. Conclusion: Asymptomatic intestinal tuberculosis may occasionally be detected on colonoscopy following a positive fecal occult blood test and is sometimes confined to the terminal ileum. Therefore, clinicians should consider intestinal tuberculosis in the differential diagnosis of the causes of positive fecal occult blood test results and perform colonoscopies, including observation of the terminal ileum.

Additive-Free Method for Enhancing the Volume Phase Transition Rate in Light-Responsive Hydrogels: A Study of Micro-Nano Bubble Water on PNIPAM-co-AAc Hydrogels.

Light-responsive hydrogels containing light-thermal convertible pigments have received interest for their possible applications in light-responsive shutters, valves, drug delivery systems, etc. However, their utility is limited by the slow response time. In this study, we investigated the use of micro-nano bubble water as a preparation solvent to accelerate the volume phase transition kinetics of poly(N-isopropylacrylamide-co-acrylic acid) (PNIPAM-co-AAc) hydrogels. The hydrogels were characterized by dynamic light scattering (DLS) and dissolved oxygen (DO) measurements. The mechanical properties, surface morphology, and chemical composition of the hydrogels were analyzed by Young's modulus measurements, scanning electron microscopy (SEM), and Fourier transform infrared (FT-IR) spectroscopy, respectively. The results showed that hydrogels prepared with bubble water changed the volume transition rate by more than two orders of magnitude by simply changing the standing time of the bubble water for only a few hours. The cooperative diffusion coefficients obtained from the light-induced volume transition kinetics correlated linearly with Young's modulus and metastable state swelling ratio. Our results suggest that bubbles act as efficient water channels, thereby modulating the response rate and providing a simple, additive-free method for preparing hydrogels with a wide range of response rates.

A Novel Mouse Model of Intrahepatic Cholangiocarcinoma Induced by Azoxymethane.

Cholangiocarcinoma is the second most common primary cancer of the liver and has a poor prognosis. Various animal models, including carcinogen-induced and genetically engineered rodent models, have been established to clarify the mechanisms underlying cholangiocarcinoma development. In the present study, we developed a novel mouse model of malignant lesions in the biliary ducts induced by the administration of the carcinogen azoxymethane to obese C57BLKS/J-db/db mice. A histopathological analysis revealed that the biliary tract lesions in the liver appeared to be an intrahepatic cholangiocarcinoma with higher tumor incidence, shorter experimental duration, and a markedly increased incidence in obese mice. Molecular markers analyzed using a microarray and a qPCR indicated that the cancerous lesions originated from the cholangiocytes and developed in the inflamed livers. These findings indicated that this is a novel mouse model of intrahepatic cholangiocarcinoma in the context of steatohepatitis. This model can be used to provide a better understanding of the pathogenic mechanisms of cholangiocarcinoma and to develop novel therapeutic strategies for this malignancy.

Steroid refractory severe ulcerative colitis after kidney transplantation successfully treated with infliximab.

A 54-year-old man underwent kidney transplantation at the age of 50 for end-stage renal failure owing to diabetic nephropathy. The patient was subsequently treated with three immunosuppressive drugs (tacrolimus, mycophenolate mofetil, and methylprednisolone) to prevent organ rejection, and no renal failure was noted. He visited our department with bloody stools and diarrhea, and a colonoscopy revealed mucosal edema and redness of the entire colon. After excluding infection and drug-induced enteritis based on the endoscopic and pathological findings, he was diagnosed with ulcerative colitis (UC). He was admitted and received a high dose of steroids, but did not demonstrate improvement. We initiated infliximab (IFX), and his symptoms improved within 3 days. After the second IFX treatment, the patient achieved clinical remission and was discharged. After the third IFX dose, the biomarker level became normal, and a colonoscopy after the fourth IFX dose revealed that all ulcers had become scarred and achieved endoscopic remission. The patient continued all medications to prevent organ rejection after the onset of UC and had no graft dysfunction or infection for 1 year.

Efficacy of a Gastroscope for Cecal Intubation during Colonoscopy in Patients with Severe Sigmoid Adhesion.

BACKGROUND: Cecal intubation during colonoscopy is difficult to achieve in patients with severe sigmoid adhesions. This retrospective observational study assessed the efficacy of using a gastroscope for colonoscopy in patients with severe sigmoid adhesions. Furthermore, the ability of computed tomography (CT) to predict the possibility of cecal intubation using a gastroscope was examined. METHODS: A total of 1,626 patients who underwent colonoscopy for total colon observation by one endoscopist were enrolled. Cecal intubation rate and other procedure-related outcomes were evaluated. We also investigated whether identification of the sigmoid colon pathway by CT was involved in cecal intubation rate using a gastroscope. RESULTS: Of the enrolled patients, cecal intubation by colonoscope was not feasible in 19 patients (1.2%) because of severe sigmoid adhesions. Cecal intubation was possible in 13 patients (68.4%) using a gastroscope, and the cecal intubation rate of peritoneal carcinomatosis (0%, p < 0.01) was significantly lower than that of other causes such as a diverticulum (100%) and history of gynecologic surgery (80%). The identifiable case of the sigmoid colon pathway by horizontal section on CT showed significantly higher cecal intubation rate compared to those of unidentifiable cases (92.3% vs. 16.7%, p < 0.01). CONCLUSION: Using a gastroscope is effective in performing cecal intubation during colonoscopy in patients with severe sigmoid adhesions. However, in patients with sigmoid adhesions caused by peritoneal carcinomatosis, cecal intubation may be difficult, even when a gastroscope is used. The ability of CT to identify the sigmoid colon pathway may predict success of cecal intubation.

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.

BACKGROUND: Novel coronavirus disease (COVID-19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with various childhood-onset neurological diseases. A questionnaire survey was conducted to identify family-specific issues and needs of patients with congenital insensitivity to pain with anhidrosis (CIPA) during major changes in their daily lives due to the COVID-19 outbreaks. METHODS: An anonymous questionnaire was sent to 56 families that were members of the Association of Patients and Families of CIPA in Japan between October and November 2020, the first 2 months of the third outbreak. RESULTS: Thirty-eight families (67.2% response rate) responded to the questionnaire. The current concerns of the parents were (1) difficulty in predicting the future (19 parents, 50%), (2) household and work concerns (eight parents, 21.1%), and (3) whether they would become infected (25 parents, 65.8%). Fifteen families indicated stress due to increased time together (stress + group), and 10 families had a better understanding of each other due to increased time together. New sleep disturbances and behavioral changes were observed in approximately 20% and 50% of patients with CIPA, respectively. No single factor could explain family stress. There were also free descriptions of the importance of peer support, connections with experts, and prompt responses for resolution. CONCLUSIONS: Each family has its own way of coping with multiple factors that contribute to the stress of the patient and family. A long-established resilience to the disease proved effective during this pandemic.

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.

BACKGROUND: Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked recessive developmental disorder characterized by initially marked truncal hypotonia, later athetotic posturing, and severe intellectual disability caused by mutations in SLC16A2, which is responsible for the transport of triiodothyronine (T3) into neurons. We conducted a nationwide survey of patients with MCT8 deficiency to clarify their current status. METHODS: Primary survey: In 2016-2017, we assessed the number of patients diagnosed with MCT8 deficiency from 1027 hospitals. Secondary survey: in 2017-2018, we sent case surveys to 31 hospitals (45 cases of genetic diagnosis), who responded in the primary survey. We asked for: 1) perinatal history, 2) developmental history, 3) head MRI findings, 4) neurophysiological findings, 5) thyroid function tests, and 5) genetic test findings. RESULTS: We estimated the prevalence of MCT8 deficiency to be 1 in 1,890,000 and the incidence of MCT8 deficiency per million births to be 2.12 (95 % CI: 0.99-3.25). All patients showed severe psychomotor retardation, and none were able to walk or speak. The significantly higher value of the free T3/free T4 (fT3/fT4) ratio found in our study can be a simple and useful diagnostic biomarker (Our value 11.60 ± 4.14 vs control 3.03 ± 0.38). Initial white matter signal abnormalities on head MRI showed recovery, but somatosensory evoked potentials (SEP) showed no improvement, suggesting that the patient remained dysfunctional. CONCLUSION: For early diagnosis, including in mild cases, it might be important to consider the clinical course, early head MRI, SEP, and fT3/fT4 ratio.

The most severe form of LMNA-associated congenital muscular dystrophy.

Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. We report a case of LMNA-associated congenital muscular dystrophy in which the patient did not achieve head control and experienced facial muscle weakness. Cardiac dysrhythmias were observed at 5 years with development of dilated cardiomyopathy and ischemic strokes at 7 years. Despite intensive medical intervention, he died suddenly at 9 years. This report broadens the spectrum of phenotypes of this disorder with the most severe symptoms during the first decade of life. Our case underscores the need for early genetic testing for LMNA in patients with congenital muscular dystrophy to screen for cardiac manifestations and intervene as necessary.

Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy.

BACKGROUND: Organ transplantation after brain death (BD) of the donor has been promoted in many countries as an established medical treatment. However, some problems with brain-dead organ transplantation have been reported. For example, there is no evidence as to the optimal observation period for a diagnosis and no evidence to support the interpretation of the various body movements observed after the determination of BD. CASE REPORT: A previously healthy 17-month-old girl with severe febrile convulsive status was transferred to our intensive care unit. The convulsions were refractory and the patient required respiratory management due to whole brain edema on head CT. Later she was diagnosed with acute encephalopathy. The patient showed a flat EEG, no responses on auditory brainstem responses (ABR), and loss of brainstem reflexes on repeated daily examinations. No apnea test was performed. Based on the diagnosis of clinical BD, coordinator of Japan Organ Transplant Network explained about organ donation on the 17th day of the disease. Subsequently, the family responded that they could not consent to organ donation, and the patient did not proceed to the legal BD determination. Around five weeks after the onset, spontaneous body movements began to appear, as not only the spinal reflexes but also the brainstem involvement. CONCLUSION: The pathophysiology of acute encephalopathy is largely unknown, and it is difficult to determine the observation period necessary for BD determination. What we have learned from this case is that clinical BD remains ambiguous and cannot be confirmed even with a thorough neurological examination, EEG, and ABR.

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Here, we aim to describe the clinical and mutation spectra of SLC12A6-related Charcot-Marie-Tooth (CMT) disease in Japanese patients. METHODS: We extracted SLC12A6 variants from our DNA microarray and targeted resequencing data obtained from 2598 patients with clinically suspected CMT who were referred to our genetic laboratory by neurological or neuropediatric departments across Japan. And we summarized the clinical and genetic features of these patients. RESULTS: In seven unrelated families, we identified one previously reported and three novel likely pathogenic SLC12A6 heterozygous variants, as well as two variants of uncertain significance. The mean age of onset for these patients was 17.5 ± 16.1 years. Regarding electrophysiology, the median motor nerve conduction velocity was 39.6 ± 9.5 m/sec. For the first time, we observed intellectual disability in three patients. One patient developed epilepsy, and her brain MRI revealed frontal and temporal lobe atrophy without changes in white matter and corpus callosum. CONCLUSIONS: Screening for the SLC12A6 gene should be considered in patients with CMT, particularly those with central nervous system lesions, such as cognitive impairment and epilepsy, regardless of the CMT subtype.

Endoscopic fenestration for benign complete anastomotic obstruction following rectal surgery.

Video 1Endoscopic fenestration for benign complete anastomotic obstruction after rectal surgery.

Changes in Magnetic Resonance Signal Fluctuation in Superior Sagittal Sinus: Deterioration of Arteriolar Vasomotor Function of Young Smokers.

(1) Cerebral arteriolar vasomotor function is vital for brain health and has been examined through CO2 inhalation or breath-holding, which are both challenging for patients. We have developed a non-invasive method to evaluate this function with magnetic resonance imaging (MRI) by utilizing respiration-induced natural changes in partial pressure of arterial CO2 (PaCO2). In this study, we applied this method for 20s to evaluate the chronic effect of a few years smoking on the cerebral arteriolar vasomotor function. (2) A single slice (five slice thicknesses: 15 mm to 7 mm) perpendicular to the superior sagittal sinus of was imaged successively for 45 s using spin-echo echo-planar imaging by 3T MRI for ten smokers (24.5 ± 1.6 years) and ten non-smokers (24.3 ± 1.4 years), respectively. The venous oxygenation fluctuation (ΔYr) caused by the respiration-induced changes of PaCO2, which reflects the arteriolar vasomotor function, was calculated from the time series MR signal changes of superior sagittal sinus. (3) The ΔYr values of the smokers (0.7 ± 0.6) were significantly lower than those of the non-smokers (1.3 ± 0.8) (p = 0.04). (4) Degeneration of the cerebral arteriolar vasomotor function due to chronic smoking (even after 20s) was demonstrated by our non-invasive MRI-based method.

[Perspective on transition from pediatric to adult health care for patients with neurological disease: current situation and issues].

An improvement in efficacy treatment and development of the social support system has led to many patients with neurological disease being able to reach adulthood. Therefore health care for life from pediatrics to adulthood has become necessary. The Special Committee for Measures Against Transition from Pediatric to Adult Health Care of the Japanese Society of Neurology officially started to examine the current situation and issues of transition from pediatric to adult health care in July 2020. Pediatric neurologists and adult neurologists have an awareness of this issue of constructing a better transition from pediatric to adult health care. However, there are some tasks that need to be resolved in the medical system. We intend to improve the understanding of transition and assessment of medical service fees for transition in cooperation with the Japanese Society of Neurology and the Japanese Society of Child Neurology.

Quality of life of children with neurodevelopmental disorders and their parents during the COVID-19 pandemic: a 1-year follow-up study.

This study aimed to reveal changes in the quality of life (QOL) of children with neurodevelopmental disorders and their parents, and the interaction between their QOL and parental mental state during the coronavirus 2019 (COVID-19) pandemic. Eighty-nine school-aged children and parents participated in surveys in May 2020 (T1) and May 2021 (T2). The parents completed questionnaires that assessed their QOL, depression, parenting stress, and living conditions. Children's temporary mood status was evaluated using the self-reported visual analog scale (VAS). Children's QOL and VAS at T2 were higher than their QOL at T1. Parents' QOL at T2 was lower than their QOL at T1. Severe parental depression at T1 had a synergistic effect on severe parenting stress and severe depressive state at T2. Additionally, children's high QOL at T1 had a synergistic effect on low parenting stress and children's high QOL at T2. Furthermore, children's low VAS scores and parents' low QOL at T2 were associated with deterioration of family economic status. Children and parents' QOL changed during the prolonged COVID-19 pandemic. Improvement in children's QOL was influenced by reduced maternal depressive symptoms. Public support for parental mental health is important to avoid decreasing QOL.

Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy.

BACKGROUND: Panayiotopoulos syndrome (PS) is a common benign epilepsy in childhood, characterized by predominantly autonomic symptoms such as emesis, pallor, and seizures, which are often prolonged. In an emergency room (ER), particularly when unconsciousness is prolonged, differentiating PS from acute encephalopathy is challenging. In this study, we aimed to elucidate the differences in clinical features of patients with PS and acute encephalopathy who visited our ER. METHODS: We retrospectively reviewed 18 patients who were transferred to our ER because of status epilepticus later diagnosed as PS, and 30 patients with acute encephalopathy, between July 2012 and July 2017. We compared patient demographics, clinical characteristics, and treatment. RESULTS: Most patients (90%) with acute encephalopathy had convulsive seizures of greater than or equal to 15 min, whereas only three patients (17%) with PS had convulsive seizures of greater than or equal to 15 min (P < 0.001). In addition, seizures were treatable in all patients with PS with a small dose of midazolam (0.1 mg/kg), but all patients with acute encephalopathy required midazolam at 0.3 mg/kg or more (P < 0.001). More patients with PS had autonomic symptoms compared to those with acute encephalopathy (e.g., vomiting [78% vs. 3%, P < 0.001]). Non-convulsive status epilepticus was observed in 22% of PS patients, but not in any acute encephalopathy patients. In contrast, fever was observed in all patients with acute encephalopathy (100%), but less frequently in those with PS (11%, P < 0.001). CONCLUSION: PS was characterized by 1) convulsive seizures shorter than 15 min, 2) seizures treatable with small doses of midazolam, and 3) autonomic symptoms. PS could be differentiated from acute encephalopathy in the early stages of the syndrome.

Interventions for Shiga toxin-producing Escherichia coli gastroenteritis and risk of hemolytic uremic syndrome: A population-based matched case control study.

BACKGROUND: The role of antibiotics in the treatment of Shiga toxin-producing Escherichia coli (STEC) infection is controversial. OBJECTIVES: To evaluate the association between treatment (antibiotics, antidiarrheal agents, and probiotics) for STEC infection and hemolytic uremic syndrome (HUS) development. PATIENTS AND METHODS: We performed a population-based matched case-control study using the data from the National Epidemiological Surveillance of Infectious Diseases (NESID) between January 1, 2017 and December 31, 2018. We identified all patients with STEC infection and HUS as cases and matched patients with STEC infection without HUS as controls, with a case-control a ratio of 1:5. Further medical information was obtained by a standardized questionnaire. Multivariable conditional logistic regression model was used. RESULTS: 7760 patients with STEC infection were registered in the NESID. 182 patients with HUS and 910 matched controls without HUS were selected. 90 patients with HUS (68 children and 22 adults) and 371 patients without HUS (266 children and 105 adults) were included in the main analysis. The matched ORs of any antibiotics and fosfomycin for HUS in children were 0.56 (95% CI 0.32-0.98), 0.58 (0.34-1.01). The matched ORs for HUS were 2.07 (1.07-4.03), 0.86 (0.46-1.61) in all ages treated with antidiarrheal agent and probiotics. CONCLUSIONS: Antibiotics, especially fosfomycin, may prevent the development of HUS in children, while use of antidiarrheal agents should be avoided.