Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report.

RATIONALE: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. PATIENT CONCERNS: The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. DIAGNOSES: We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. INTERVENTIONS: We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. OUTCOMES: Our interventions resulted in her better social adjustment. LESSONS: Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.

Associations between Internet Addiction, Psychiatric Comorbidity, and Maternal Depression and Anxiety in Clinically Referred Children and Adolescents.

Purpose: Internet addiction (IA) has become a global problem and is one of the most common reasons for children to be referred for intervention because IA results in social and educational dysfunction and conflict with parents. IA is associated with various comorbid psychiatric disorders, with notable association between IA and family factors. However, little is known about parental psychopathology. This study aimed to examine the prevalence of IA and association between IA and maternal depression and anxiety in clinical samples after adjusting for comorbidities. Patients and Methods: A cross-sectional study was conducted between April 2020 and August 2021 at the Department of Neuropsychiatry of Osaka Metropolitan University Hospital in Japan. A total of 218 clinically referred children and adolescents (aged 8 to 15 years) were assessed using the Internet Addiction Test, which is one of the most popular questionnaires to evaluate IA, the Child Behavior Checklist (CBCL), and The Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. IA was defined as a total score on the Internet Addiction Test ≥ 50. Of those, for the evaluation of maternal depression and anxiety, the 132 mothers of the children who were referred after January 2021 completed K6 as well. Results: A total of 68 participants (31.2%) presented with IA and had higher total and externalizing scores of CBCL, social anxiety disorder, and oppositional defiant disorder compared to those without IA. IA was associated with the six-item Kessler scale scores of mothers, being raised by single parents, and anxiety disorders after adjusting for age, sex, and family income (95% CI: 1.023-1.215). Conclusion: Maternal depression and anxiety may be one of the risk factors for children and adolescents to develop IA. Care for maternal depression and anxiety may contribute to intervention for children and adolescents with IA.

Prolonged extrapyramidal symptoms induced by long-term, intermittent administration of low-dose olanzapine along with metoclopramide for emesis: A case report.

BACKGROUND: Antipsychotics with dopamine (D2) receptor antagonism can be effective for emesis in cancer patients. Extrapyramidal symptoms (EPS) induced by typical antipsychotics can be exacerbated by other D2 receptor antagonists. We describe a case of persistent EPS induced by long-term, intermittent administration of low-dose olanzapine along with metoclopramide for emesis. CASE PRESENTATION: A 59-year-old pancreatic cancer patient underwent chemotherapy for 7 months. He was referred to the psychiatry department because of restlessness and insomnia. Although he did not have obvious depressive symptoms, he was anxious about the cancer treatment. For chemotherapy-induced nausea, he had been prescribed 5 mg of olanzapine intermittently for 7 months. He had last used the drug 9 days before presenting it to us. Additionally, he received metoclopramide and palonosetron as antiemetics. We considered akathisia and cancer-related anxiety/agitation as possible causes of restlessness and insomnia, and prescribed clonazepam. However, his symptoms worsened, resulting in hospitalization. We reconsidered his symptoms as cancer-related anxiety/agitation and prescribed quetiapine. Although it was effective, he had tremors and was assessed by a neurologist. Considering the clinical manifestations of rigidity, postural reflex disorder, and a mask-like face, we suspected drug-induced parkinsonism and replaced quetiapine with biperiden on the next day, leading to his discharge after 2 weeks. He did not have symptom recurrence even after discontinuation of biperiden. CONCLUSIONS: Long-term, intermittent administration of low-dose antipsychotics with other antiemetics having D2 receptor antagonism can cause prolonged EPS. Especially in cancer patients, who often require polypharmacy, clinicians should consider exacerbated adverse effects due to drug interactions.

Associations Between Chronic Irritability and Sensory Processing Difficulties in Children and Adolescents.

Irritability is one of the most common reasons for which children and adolescents are referred for psychiatric evaluation and care. However, clinical irritability is difficult to define; thus, its prevalence varies widely. Chronic irritability may be associated with sensory processing difficulties (SPD), but little is known about the relationship between these two factors in clinical populations. In this study, we examined the prevalence of chronic irritability and its association with SPD in 166 children aged 5-16 years who were referred to the psychiatric outpatient clinic of the Osaka City University Hospital. Chronic irritability and parent-reported scores for the Short Sensory Profile, Infant Behavior Checklist-Revised, Child Behavior Checklist, and Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children (Present and Lifetime version) questionnaires were used for assessment. A total of 22 children (13.2%) presented with chronic irritability (i.e., the irritability group) and were more likely to have oppositional defiant disorder, externalizing problems, and attention issues than those without chronic irritability (i.e., the control group). SPD were reported in eight (36%) patients in the irritability group and in 21 (15%) in the control group (p = 0.029). Moreover, compared to the control group, the irritability group showed a significant difference in almost all items of the Short Sensory Profile. Chronic irritability was associated with more severe overall SPD, even after adjusting for possible confounding factors (internalizing and externalizing problems, age, sex, and low income). We provide evidence to support our hypothesis that chronic irritability is associated with SPD in children and adolescents. Therefore, SPD should be assessed to provide appropriate interventions in children and adolescents with chronic irritability.

Robot-assisted enucleation of a giant submucosal tumor in the upper esophagus.

Few reports have demonstrated robotic surgery for large tumors in the upper esophagus. We report a case of a 52-year-old woman with a giant submucosal tumor in the upper esophagus successfully enucleated using robotic surgery. She presented with odynophagia and dysphagia, with subsequent evaluation revealing a submucosal mass measuring approximately 10 cm in diameter in the upper esophagus. The mass was compressing the trachea and enlarged over 3 years. Endoscopic ultrasound fine needle aspiration of the tumor was non-diagnostic. Robot-assisted esophageal submucosal tumor enucleation was performed for diagnosis and treatment. Flexible forceps control allowed for a multi-directional approach to dissect the tumor and stable forceps handling was critical in this delicate procedure. Subsequent pathological review revealed a well-differentiated esophageal liposarcoma. While surgical margins were not entirely negative, the local recurrence rate of the tumor is low. At the patient's request, we decided to observe the patient without additional resection.

COVID-19 phobia in a boy with undiagnosed autism spectrum disorder: A case report.

RATIONALE: Coronavirus disease 2019 (COVID-19) is affecting mental health profoundly. Previous studies have reported pandemic-related anxiety. Anxiety disorder and autism spectrum disorder (ASD) are common comorbidities. However, there has been no report of any patient with undiagnosed ASD who developed anxiety disorders caused by the COVID-19 pandemic. In this case report, we describe an 8-year-old Japanese boy with undiagnosed ASD who developed COVID-19 phobia, resulting in avoidant restrictive food intake disorder (ARFID). PATIENT CONCERNS: As COVID-19 was highly publicized in the mass media and the risk of droplet infection was emphasized upon, the patient began to fear viral contamination from food, culminating in a refusal to eat or even swallow his saliva. He was admitted to a pediatric medical center in Osaka with life-threatening dehydration and was then referred to our child psychiatry department. DIAGNOSIS: We diagnosed the patient with COVID-19 phobia resulting in ARFID. We identified ASD traits from his present social communication skills and developmental history. INTERVENTIONS: We provided psychoeducation of ASD for the parents and administered supportive psychotherapy. OUTCOMES: Shortly after our intervention to relieve his ASD-related anxiety, his dysphagia improved. LESSONS: Our findings suggest that children with undiagnosed ASD may develop COVID-19 phobia. In these cases, intervention for ASD may be more appropriate than starting treatment for anxiety disorders as the first-line option. COVID-19 is the biggest pandemic in the recent past, and more undiagnosed ASD patients who develop COVID-19 phobia may seek treatment. Clinicians should consider the underlying ASD in these patients and assess their developmental history and present social communication skills.

The significance of biopsy scar excision at the time of skin- or nipple-sparing mastectomy with immediate breast reconstruction.

BACKGROUND: Neoplastic seeding (NS) can occur after tissue biopsy, which is a clinical issue especially in mastectomy with immediate reconstruction. This is because postoperative radiation is not usually given and local recurrence of preserved skin flap may increase. The purpose of this study is to investigate the importance of preoperative evaluation of NS and the validity of biopsy scar excision. PATIENTS AND METHODS: We retrospectively analysed 174 cases of mastectomy with immediate breast reconstruction. The primary endpoint is the frequency of clinical and pathological NS and the secondary endpoint is the problem of excision of needle biopsy site. RESULTS: Three cases (1.7%) had preoperative clinical findings of NS. Pathological examination revealed NS in all three cases. Biopsy scars could be excised in 115 cases among 171 cases without clinical NS. Pathological NS was found in 1 of 66 (1.5%) cases of which pathological examination was performed. Biopsy scars could not be excised in the remaining 56 cases: the biopsy scar could not be identified in 41 cases, and there was concern about a decrease in flap blood flow after excision in 15 cases. In 12 of these 15 cases, the scars were close to the skin incision; excision of these scars might have triggered skin necrosis between the incision and the biopsy scar excision site. No postoperative complications were observed. CONCLUSIONS: It is important to preoperatively evaluate clinical NS, and biopsy scars should be excised in clinical NS cases. Even in cases without clinical NS, biopsy scar excision should be considered. It is also important to perform a biopsy in consideration of the incision design for reconstructive surgery.

Mechanisms and anatomical risk factors of pneumothorax after Bevacizumab use: A case report.

BACKGROUND: Bevacizumab is an antiangiogenic agent, and that synergizes with chemotherapeutic drugs. When used in combination therapies, Bevacizumab is associated with adverse events such as hemorrhage, gastrointestinal perforation, delayed wound healing, and pneumothorax. However, the molecular mechanisms underlying these adverse events are not fully understood. CASE SUMMARY: A 45-year-old female with multiple lung metastases that were derived from primary breast cancer, was placed on Bevacizumab + paclitaxel therapy, since this combination has a potent antitumor effect. She reported dyspnea before cycle 3, day 1 and we therefore ran a chest X-ray, which detected a right pneumothorax. The coronal plane computed tomography revealed that one solid mass rapidly necrosed and was replaced by a cavity that passed through the bronchus in the right lower lobe. The cavity eventually ruptured the pleura and made the bronchopleural fistula that led to this pneumothorax. Thoracic cavity drainage using an intercostal catheter was performed. On the 7th day of drainage, the patient was discharged from our hospital on recovery. Recurrence of pneumothorax was not reported, and continuation of chemotherapy was made possible by changing the regimen. CONCLUSION: Patients with lung metastases surrounding the bronchi and on the pleura should be monitored for pneumothorax by Bevacizumab-containing chemotherapies.

Effects of neoadjuvant chemotherapy on operative adverse events and chemotherapy and radiotherapy in patients undergoing immediate breast reconstruction.

BACKGROUND: Immediate breast reconstruction (IBR) has been become a standard treatment for patients with breast cancer undergoing mastectomy. However, whether IBR is appropriate in patients undergoing neoadjuvant chemotherapy (NAC) is still unclear. Therefore, in this study we examined the rates of operative adverse events (AEs), risk factors for operative AEs, and effects on chemotherapy and radiotherapy of IBR with NAC. METHODS: Between January 2012 and March 2018, 593 patients underwent IBR at the Aichi Cancer Center Hospital. We retrospectively obtained clinical data of all these patients from their medical records and identified 56 patients (65 breasts) who had received NAC (NAC group) and 537 patients (568 breasts) who had not (non-NAC group). We compared the rates of operative AEs, risk factors for operative AEs, chemotherapy-related AEs, and duration to radiotherapy between the NAC and non-NAC cohorts. RESULTS: The rate of operative AEs was significantly higher in the NAC than the non-NAC group (35% vs. 22%, p < 0.05). However, axillary lymph node dissection was the most influential risk factor, and NAC was not identified as a risk factor for operative AEs in patients who had undergone IBR. Additionally, there were no statistically significant differences in chemotherapy-related AEs or interval between surgery and postoperative radiotherapy between the NAC and non-NAC groups. CONCLUSIONS: NAC remains likely to contribute to increased postoperative AEs in patients undergoing IBR; however, it does not affect postoperative treatment and IBR is appropriate for patients undergoing NAC.

[A Case of Colostomy-Free and Long-Term Survival with 5-FU/CDDP for Local Recurrence of Anal Cancer after Chemoradiation Therapy].

We report a case of colostomy-free, long-term survival following 5-FU/CDDP for the local recurrence of anal cancer after chemoradiation therapy(CRT). The patient was a 48-year-old woman who was diagnosed with cStage ⅢA anal cancer. She was treated with CRT(5-FU/MMC plus 59 Gy)and achieved a complete response upon treatment completion. A local recurrence was detected on the left-side wall of her rectum after 6 months. We recommended abdominoperineal resection but the patient refused operation. The patient was treated with chemotherapy consisting of 5-FU(1,000mg/m / 2/day)on days 1-5 and CDDP(100mg/m / 2/day)on day 2. Grade 3 peripheral neuropathy appeared following the completion of 5 courses. Therefore, the dose was reduced to 60%. Twenty-five courses of this treatment were continued and chemotherapy was completed. The patient has been alive with no sign of recurrence for 6 years and 8 months from the initial treatment. CRT for anal cancer is becoming a standard therapy but local recurrence is possible. In these cases, abdominoperineal resection is required. Chemotherapy with 5-FU/CDDP in cases of recurrence can be a colostomy-free option.

[A Case of Resected Pancreatic Metastasis of Rectal Cancer after Multiple Resections of Metastatic Lesions].

A 71-year-old man underwent low anterior resection for rectal cancer 10 years prior. He underwent resection of liver metastasis once and that of lung metastases multiple times after the primary surgery. Computed tomography revealed a mass measuring 22mm in size in the pancreatic body 10 years after the rectal resection. We inspected it before surgery by performing EUS-FNA. On suspicion of metastasis of rectal cancer or primary pancreatic cancer, we performed distal pancreatectomy. The pancreatic tumor was diagnosed as metastasis of the rectal cancer. There were multiple metastases in the resected specimen that we were unable to indicate at the preoperative inspection. Resectable pancreatic metastasis from colorectal cancer is rare, but some patients with long-term survival have been reported. If a patient is tolerant to pancreatectomy and has no metastasis in other organs, the patient should be considered as a good candidate for pancreatectomy.

Severe sleepiness and excess sleep duration induced by paroxetine treatment is a beneficial pharmacological effect, not an adverse reaction.

BACKGROUND: Severe sleepiness and excess sleep duration, "Hypersomnia", induced by paroxetine treatment are generally considered adverse drug reactions, however, our experience indicates that patients with depressive disorder who experience "Hypersomnia" during paroxetine treatment have good clinical response. The aim of this study was to determine if "Hypersomnia" during paroxetine treatment is a beneficial pharmacological effect or an adverse drug reaction, and to investigate the impact of genetic polymorphisms on individual differences in the occurrence of "Hypersomnia" induced by paroxetine. METHODS: A consecutive series of 46 Japanese patients with depressive disorder were treated with paroxetine. Patients who complained of great drowsiness or who slept for more than 12-h per day over seven days were identified as having experienced "Hypersomnia". For the clinical improvement rates and genotype distribution of the circadian locomotor output cycles kaput (CLOCK), serotonin transporter and cytochrome P450 2D6 (CYP2D6), the group that showed "Hypersomnia" induced by paroxetine treatment and the group that did not show "Hypersomnia" were compared statistically. RESULTS: Patients who experienced "Hypersomnia" (17.4%) showed a significantly higher response rate at two weeks than did patients who did not experience "Hypersomnia" (p=0.0127). No significant association between the occurrence of "Hypersomnia" and genetic polymorphisms was found. LIMITATIONS: We cannot exclude the risk of false positive errors due to the relatively small sample sizes. CONCLUSIONS: "Hypersomnia" during paroxetine treatment for depression is a beneficial pharmacological effect, not an adverse drug reaction.