The effective perospirone augmentation with clonazepam for treatment-resistant burning mouth syndrome: A case report.

Burning mouth syndrome (BMS) is characterized by burning sensations in the oral region without corresponding abnormalities and is often accompanied by uncomfortable sensations. Herein, we present cases of BMS in which the remaining uncomfortable sensations improved with perospirone augmentation with clonazepam. Case 1: A 61-year-old man complained of a burning pain in his tongue, a sensation of dryness and discomfort as if his tongue was sticking to a palatal plate. With the diagnosis of BMS, psychopharmacotherapy was initiated with amitriptyline. At the dose of amitriptyline 50 mg, the pain lessened but uncomfortable sensations persisted. Further attempts to alleviate symptoms by combining aripiprazole with amitriptyline, aripiprazole with mirtazapine, or aripiprazole with clonazepam were limited; however, nearly all symptoms were relieved by a combination of perospirone 8.0 mg with clonazepam 1.5 mg. Case 2: A 51-year-old woman complained of a burning sensation along with oral dryness and crumb-like feeling on her tongue. She was diagnosed with BMS and began treatment with amitriptyline. Her burning sensation improved at the dose of 25 mg, but uncomfortable sensations persisted. Augmentation of amitriptyline with aripiprazole, aripiprazole either with valproate, mirtazapine, or clonazepam failed to produce a significant improvement. However, a regimen of perospirone 6.0 mg and clonazepam 1.5 mg relieved the crumb-like sensation and pain and culminated in a stabilized condition. The reported cases suggested that multiple approaches targeting the dopaminergic circuit in basal ganglia involving the serotoninergic and GABA systems, through the administration of perospirone with clonazepam is an effective adjunctive treatment for the remaining uncomfortable sensations in patients with BMS.

Goal Attainment Scaling in Patients With Burning Mouth Syndrome: A Real-World Clinical Study Protocol.

Introduction Burning mouth syndrome (BMS) is characterized by persistent chronic burning pain. Because BMS shows various symptoms, levels of severity, and treatment outcomes, measuring recovery is difficult in this patient population. Goal attainment scaling (GAS), a flexible and responsive technique for assessing outcomes in complex interventions, assimilates the achievement of individual goals into a single standardized "goal attainment scale." To our knowledge, this is the first clinical study protocol to investigate the effectiveness of adopting GAS in patients with BMS. Methods This study will involve two phases. In phase 1, the suitability of GAS for BMS will be examined in 30 patients. All practitioners will be trained to support patients in setting their clinical goals. In phase 2, all 155 patients with BMS will set two clinical goals emphasizing specific, measurable, achievable, realistic, and timed (SMART) goals at the initiation of psychopharmacotherapy for BMS. During the follow-up at weeks four, 8, 12, and 24, the GAS T-scores for each patient will be derived from the result of the individual goal attainment scores multiplied by goal weighting. Other clinical rating scales, including the visual analog scale (VAS), oral dysesthesia rating scale, pain catastrophizing scale, patient's global impression of change, and clinical global improvement will be assessed simultaneously with the assessment of goal attainment. The interactions between GAS T-scores and other clinical scales or clinical characteristics, including baseline age and sex, will be analyzed, followed by a discussion on the effectiveness of adopting the GAS for BMS. Results The information gleaned from phase 1 will help train practitioners and develop the use of GAS for BMS. In phase 2, analyzing the GAS T-score, a quantitative assessment, will accurately reveal patient outcomes and satisfaction. The effectiveness of using the GAS and some factors contributing to patient satisfaction will be revealed by analyzing the interaction between the T-score and other clinical scales. Conclusions In addition to revealing the usefulness of GAS for BMS, we believe this study will prompt further investigations to clarify the factors contributing to patient satisfaction and shed light on a new treatment strategy that reinforces the previous treatments for BMS.

Dental conditions in patients with medically unexplained oral symptoms.

Background/purpose: Dentists sometimes struggle with treating patients with unexplained symptoms, known as oral psychosomatic disorders, that do not improve with conventional treatment. Oral psychosomatic disorders do not fit the definition of psychosomatic diseases in internal medicine. To ensure appropriate dental treatment, it is important for general dentists to distinguish between oral psychosomatic disorders and psychosomatic diseases. However, relevant evaluation methods have not yet been developed. The DMFT index is widely used as an indicator of the caries status. The purpose of this study was to compare the DMFT index scores of patients with oral psychosomatic. Materials and methods: The DMFT scores of 2202 patients with oral psychosomatic disorders, 145 psychiatric inpatients, and 3940 general dental patients were statistically compared. The DMFT of patients with oral psychosomatic disorders was further compared based on the presence or absence of psychiatric history and disease. Results: The median DMFT scores of oral psychosomatic disorder patients, psychiatric inpatients, and general dental patients were 16, 22, and 10, respectively, showing a significant difference. No significant differences were found in the DMFT scores based on the presence or absence of psychiatric history in oral psychosomatic disorder patients. Conclusion: The intraoral environment of patients with oral psychosomatic disorders was worse than that of general dental patients but better than that of psychiatric inpatients. General dentists could suspect psychiatric and oral psychosomatic disorders based on the state of patients' oral environment.

Case series of drug-induced open bite: Extrapyramidal symptoms related to psychotropic medications.

Introduction: Drug-induced open bite is one of the extrapyramidal symptoms with abnormal tonus of muscles and is rarely recognized in dentistry. This is a retrospective case study to investigate clinical characteristics including detailed complaints in patients with drug-induced open bite. Methods: Of the outpatients who first visited the psychosomatic dental clinic at the Tokyo Medical and Dental University Hospital between September 2013 and September 2022, the patients diagnosed with drug-induced open bite were involved in this study. The clinical characteristics including sex, age, detailed complaints, duration of illness, abnormal findings, psychotropic medications, and other medications that were taken at the first examination, psychiatric comorbidities, the duration of psychiatric diseases, and other medical histories were collected retrospectively by reviewing their medical chart. Results: Drug-induced open bite was found in 11 patients [women: 7, men: 4, median of age: 49 (36.5, 53) years old]. Difficulty in eating especially chewing was the major complaint (9/11, 81.6%) with the duration of illness as 48.0 (16.5, 66) months. Various degrees of open bite were observed. While some showed no occlusal contact on frontal teeth, some showed occlusal contact only on the second molars; moreover, the jaw showed a horizontal slide in a few patients. Three cases could be followed up for prognosis; while in one case the drug-induced open bite improved with 6 months of follow-up, two cases did not improve, and one showed extrusion of molars. All of them had psychiatric comorbidities with the most common diagnosis being schizophrenia (n = 5) and depression (n = 5) followed by insomnia (n = 1) and autism spectrum disorder (n = 1) including duplicated diagnosis. Nine patients (81.6%) had been undergoing treatment with antipsychotics of which three patients were also taking antidepressants. Discussion: Although a drug-induced open bite is a rare symptom, prudent medical interviews about symptoms, psychiatric comorbidities, and psychotropic medication history besides oral assessment are necessary to provide a precise diagnosis and appropriate management in collaboration between dentists and psychiatrists.

A case with burning mouth syndrome followed by dementia with Lewy bodies: a case report.

Burning mouth syndrome (BMS) is characterized by persistent oral burning sensations without corresponding organic findings. Dementia with Lewy bodies (DLB) is a common type of dementia and generally presents visual hallucination and parkinsonism as motor dysfunction besides cognitive decline. In this case report, we present a case in which DLB emerged during the treatment for BMS, with a relatively positive outcome for BMS. A 74 years-old female complained of burning pain in her mouth and a subsequent decrease in food intake. Following a diagnosis of BMS, pharmacotherapy was initiated. BMS was much improved with mirtazapine 15 mg and aripiprazole 1.0 mg, leading to the restoration of her food intake by day 180. However, BMS flared up again triggered by deteriorating physical condition of herself and that of her husband. With aripiprazole 1.5 mg and amitriptyline 25 mg, her BMS gradually improved by day 482. However, by day 510, an increase in anxiety was noted, accompanied by the occasionally misidentification of her husband on day 566. Her cognitive impairment and disorientation were also reported by her husband on the day 572, she was then immediately referred to a neurologist specialized dementia and diagnosed with DLB on the day 583. Her treatment was adjusted to include the prescription of rivastigmine which was titrated up to 9.0 mg. Considering the potential impact of amitriptyline on cognitive function, it was reduced and switched to mirtazapine; however, her oral sensations slightly got worse. Following the consultation with her neurologist, amitriptyline 10 mg was reintroduced and aripiprazole was discontinued on day 755. Remarkably, BMS gradually improved without deteriorating DLB. This case indicated the reaffirmed necessity of careful interviews for changes in daily life not only with the patients but also with their families through the medical assessments. It highlights the vigilance regarding potential cognitive decline underlying or induced as an adverse event especially when treating elderly patients with BMS. While the interaction between BMS and DLB remains unclear, this case underscores the importance of prudent diagnosis and constructing collaboration with specialists in managing BMS with the early phase of DLB.

Clinical Features and Variations of Pain Expressions in 834 Burning Mouth Syndrome Patients With or Without Psychiatric Comorbidities.

Introduction Burning mouth syndrome (BMS) is characterized as chronic burning pain or unpleasant discomfort in the oral region without any corresponding clinical abnormalities. The aim of this study is to investigate the difference in clinical features and the variations of pain expressions between BMS patients with and without psychiatric comorbidities. Methodology The patients with BMS who first visited between April 2016 and March 2020 were involved and the clinical data including the presence of psychiatric comorbidities and scores of self-rating depression scale (SDS), pain catastrophizing scale (PCS), and pain quality from short-form McGill pain questionnaire (SF-MPQ) were collected retrospectively. Results In 834 patients with BMS (700 females, 63.9 ± 13.1 years old), 371 patients (44.5%) had psychiatric comorbidities. There was no significant between-group difference in demographic data. However, significantly higher scores were observed in SDS (p < 0.001) and PCS (p < 0.001) in the patients with psychiatric comorbidities. Moreover, the patients with psychiatric comorbidities showed significantly stronger pain intensity (p < 0.001) besides higher scores of each descriptor in SF-MPQ. In addition, they had chosen more descriptors in SF-MPQ (p < 0.001); furthermore, the number of selected pain descriptors showed a stronger correlation with PCS than with SDS regardless of the presence of psychiatric comorbidities. Conclusion BMS patients may complain of various pain expressions regardless of the psychiatric comorbidities; however, more severe complaints relating to high pain catastrophizing are more likely in patients with psychiatric comorbidities. These results suggested that underlying anxiety exacerbated the variety of pain expressions in BMS patients with psychiatric comorbidities.

Case Report: Auditory Hallucination Induced by Amitriptyline for the Treatment of Atypical Odontalgia.

Auditory hallucination is usually associated with psychiatric diseases and organic brain illness. It was rarely found as adverse events of antidepressants. Amitriptyline is considered as one of the first line medications for the psychopharmacotherapy of chronic pain including atypical odontalgia (AO) which shows chronic tooth pain without corresponding abnormalities. Anticholinergic adverse events induced by amitriptyline are usually bearable and not critical since the prescription dose is very low for the patients with AO. This is a first case report about the AO patients who showed auditory hallucination by the low dose of amitriptyline. A 43-years-old female, housewife, complained chronic toothache following dental procedures and was diagnosed as AO. Amitriptyline was initially prescribed 25 mg and gradually increased up to 60 mg with the improvement of AO symptoms in 7 months. Although the temporary recurrence was observed following to the retreatment of prosthodontic dental procedures, it improved in a few weeks. Therefore, the dose of amitriptyline was decreased, and the continuation dose was set 30 mg. In 24 months, the AO symptoms were very much improved; however, she reported that she had been heard the voices at midnight for a year. The voices were neighborhoods' and talking about the noise troubles she had claimed before. She had not realized that the voices were auditory hallucination since they were heard only at midnight infrequent and not bothering her daily life. At the time she reported auditory hallucination, she worried whether organic brain diseases are hiding because the frequency of voices was increased and sometimes occurred in daytime. The adverse event of amitriptyline was suspected since she had never had psychotic symptoms before. Amitriptyline was decreased and continued with the dose of 25 mg. Magnetic resonance imaging and psychiatric consultation revealed no abnormality of brain and in psychiatric aspects. After final prosthodontic treatment, the amitriptyline was discontinued in 30 months. Two months after the discontinuation, auditory hallucination was almost disappeared with no recurrence of AO. The present case report suggests that amitriptyline has possibility to induce auditory hallucination even in conventional dose throughout the treatment of chronic pain including AO.

The Effectiveness and Adverse Events of Amitriptyline and Aripiprazole in Very Elderly Patients With BMS.

Burning mouth syndrome (BMS) is defined by chronic oral burning sensations without any corresponding abnormalities. Besides amitriptyline, aripiprazole has been reported as a possible medication to manage BMS. However, especially for elderly patients, the adverse events of these medications would be a problem. The aim of the present study was to investigate the differences in the effectiveness and adverse events of amitriptyline and aripiprazole in very elderly patients with BMS. This is a retrospective comparative study of 80 years old and older patients with BMS who were initially treated with amitriptyline or aripiprazole and who were new outpatients of our department from April 2017 to March 2020. All clinical data, including sex, age, comorbid physical diseases, comorbid psychiatric disorders, the prescribed doses (initial, maximum, and effective dose), prognosis, and adverse events, were collected from their medical charts. Each medication was selected considering their medical history. Amitriptyline was prescribed in 13 patients (11 women, 82.3 ± 2.1 years old) and aripiprazole was prescribed in 27 patients (26 women, 84.2 ± 3.8 years old). There were no significant between-group differences in sex, age, duration of illness, pain intensity, salivation, and psychiatric comorbidity at the first examination. Amitriptyline clinically improved more patients (7 patients, 53.8%) with the effective dose of 10 (7.5, 15.0) mg than aripiprazole (11 patients, 40.7%) of which the effective dose was 1.0 (0.5, 1.5) mg, although there were no significant between-group differences. The adverse events of amitriptyline were found in 9 patients (69.2%) and most patients had constipation (46.2%). For aripiprazole, 7 patients (25.9%) showed adverse events, most of them reported sleep disorder (11.1%). Amitriptyline had significantly longer duration taking medication (p = 0.021) and lower discontinuation (p = 0.043) despite of higher occurrence rate of adverse events (p = 0.015) compared to aripiprazole. These results suggest that both psychopharmacotherapies with a low dose of amitriptyline and aripiprazole are effective for the very elderly patients with BMS. Furthermore, aripiprazole may have some advantages in the adverse events compared to amitriptyline; however, the low dose amitriptyline monotherapy may have more benefit in the effectiveness and tolerability over prudent collaboration with primary physicians.

Courtesy stigma of parents of children with Down syndrome: Adaptation process and transcendent stage.

Courtesy stigma, which arises from close connections to people with stigmatized characteristics, negatively affects interpersonal relations. This study aimed to evaluate courtesy stigma and the adaptation process of parents of children with Down syndrome based on semi-structured interviews with 23 Japanese parents. The interview themes were (a) negatively perceived interpersonal experiences and coping strategies; (b) information disclosure and others' responses; and (c) positively perceived interpersonal experiences. The interview data were transcribed and analyzed based on a grounded theory approach. The results suggested that parents perceived and experienced multidimensional courtesy stigma, and they used various coping strategies categorized in combinations of passive-active and internal-external. All parents disclosed information about their child's diagnosis to others, and reverse disclosure (i.e., revealing own relations with people with disabilities) was characteristically observed thereafter. Through active interaction and reflection, the parents cultivated social relationships, compassion, world views, and community involvement, which led to the transcendent stage. However, internal conflict as a mediator between people with and without Down syndrome re-emerged even after achieving the transcendent stage. These findings could help to develop interventions in genetic counseling for parents to deal with interpersonal relationship difficulties.

Phantom bite syndrome: Revelation from clinically focused review.

Phantom bite syndrome (PBS), also called occlusal dysesthesia, is characterized by persistent non-verifiable occlusal discrepancies. Such erroneous and unshakable belief of a "wrong bite" might impel patients to visit multiple dental clinics to meet their requirements to their satisfaction. Subsequently, it takes a toll on their quality of life causing, career disruption, financial loss and suicidal thoughts. In general, patients with PBS are quite rare but distinguishable if ever encountered. Since Marbach reported the first two cases in 1976, there have been dozens of published cases regarding this phenomenon, but only a few original studies were conducted. Despite the lack of official classification and guidelines, many authors agreed on the existence of a PBS "consistent pattern" that clinicians should be made aware. Nevertheless, the treatment approach has been solely based on incomplete knowledge of etiology, in which none of the proposed theories are fully explained in all the available cases. In this review, we have discussed the critical role of enhancing dental professionals' awareness of this phenomenon and suggested a comprehensive approach for PBS, provided by a multidisciplinary team of dentists, psychiatrists and exclusive psychotherapists.

Clinical Characteristics of Predominantly Unilateral Oral Cenesthopathy With and Without Neurovascular Contact.

Oral cenesthopathy (OC) is characterized by unusual oral discomfort without corresponding evidence, and it has often been categorized as "delusional disorder, somatic type". Regarding possible causative factors of OC, involvement of neurovascular contact (NVC) of the trigeminal nerve, which transmits not only pain but also thermal, tactile, and pressure sensations, has never been observed yet. This study aimed to investigate the relationship between clinical characteristics of unilateral OC and the presence of trigeminal nerve NVC. This is a retrospective comparative study that involved 48 patients having predominantly unilateral OC who visited the Psychosomatic Dentistry Clinic of Tokyo Medical and Dental University between April 2016 and February 2019. Magnetic resonance imaging was performed to assess NVC presence. The Oral Dysesthesia Rating Scale (Oral DRS) was used to assess the various oral sensations and functional impairments besides psychometric questionnaires. Clinical characteristics were retrospectively obtained from the patients' medical charts. NVC was present in 45.8% (22/48) of the patients. There was no significant difference in sex, age, psychiatric history, oral psychosomatic comorbidity, and psychometric questionnaire scores between patients with and without NVC. However, compared to the patients with NVC, the patients without NVC had significantly higher scores for overall subjective severity of OC symptoms (p = 0.008). Moreover, patients having predominantly unilateral OC without NVC showed significantly higher scores in symptom severity and functional impairment of the following parameters: movement (p = 0.030), work (p = 0.004), and social activities (p = 0.010). In addition, compared with the patients with NVC, the patients without NVC showed significantly higher averages of the total symptom severity scale (SSS) and functional impairment scale (FIS) scores in the Oral DRS (p = 0.015 and p = 0.031, respectively). Furthermore, compared with the patients with NVC, the patients without NVC had significantly higher numbers of corresponding symptoms in both the SSS and FIS (p = 0.041 and p = 0.007, respectively). While NVC may be involved in the indescribable subtle OC symptoms, more complex mechanisms may also exist in OC patients without NVC, which yield varying and more unbearable oral symptoms.

Case Report: Iatrogenic Dental Progress of Phantom Bite Syndrome: Rare Cases With the Comorbidity of Psychosis.

Introduction: Phantom bite syndrome (PBS) is considered as the preoccupation with dental occlusion and the continual inability to adapt to changed occlusion. These patients constantly demand occlusal corrections and undergo extensive and excessive dental treatments. We present three cases with PBS-suspected iatrogenic concerns and the attribution to underlying psychosis. Case Presentation: A 70-year-old female demanded orthodontic retreatment and complained of tightness and cramped sensation of teeth in the oral cavity, uncomfortable occlusion, and pain in her neck and legs that she was convinced was induced by orthodontic treatment. However, even earlier than the orthodontic treatment, she had kept doctor shopping for over 35 years, not merely dentists but also psychiatrists, neurologists, and so on; she was diagnosed with bipolar disorder. A 48-year-old female complained of malaligned improper occlusion and demanded occlusal adjustment. These symptoms occurred in the absence of a dental trigger and were worsened by orthodontic treatment. She underwent psychiatric treatment for 15 years with a diagnosis of bipolar disorder. A 38-year-old female, who had a history of schizophrenia for over 20 years, complained of occlusal discomfort and revisited with a complaint of abnormal occlusion due to excessive dental procedures. In the last two cases, requests for dental procedures had reduced owing to the collaboration between the psychiatrists and dentists. All the cases first visited our clinic following a succession of dental visits. They were strongly convinced that occlusal correction was the only solution to their symptoms, including the symptoms of discomfort in other body parts. Their misleading perceptions were uncorrectable, and repeated dental treatments exacerbated their complaints. Moreover, the dentists overlooked the psychotic histories of the patients, while the comorbid psychosis resulted in a strict demand for dental treatment by the patients. Conclusions: The presented PBS cases with psychosis suggest that repeated dental treatments and comorbid psychosis exacerbate PBS. Moreover, their persistent demands reflecting comorbid psychosis led dentists to perform numerous procedures. Early detection of underlying psychosis and the prompt collaboration between psychiatrists and dentists are integral to help prevent complications in PBS cases with psychosis.

Personality Traits in Burning Mouth Syndrome Patients With and Without a History of Depression.

Objectives: So far, the strong link between neuroticism, chronic pain, and depression has been well-documented in literatures. Some suggested that they might share etiological factors, thus resulting in overlapping constructs. However, such effect has never been tested in burning mouth syndrome (BMS) patients, a complex phenomenon influenced by both neuropathic and psychopathological factors. We aim to clarify how personality affects individual's pain and pain-related experiences. Methods: Two hundred forty-eight patients with BMS provided demographic information and psychiatric history; completed Ten-Item Personality Inventory, a Visual Analog Scale of pain, and McGill Pain Questionnaire; and provided adequate parameters of depressive state, catastrophizing thinking, and central sensitization. Results: BMS patients with depression history suffered more severe clinical symptoms and scored higher in neuroticism and less in openness and extraversion than did those without psychiatric diagnoses. After age, sex, and duration of pain were controlled, neuroticism in BMS patients with depression correlates with affective dimension of pain. Instead, if psychiatric history is absent, neuroticism correlates with sensory dimension and pain intensity. In both groups, higher neuroticism, unlike other personality facets, contributed to a more severe clinical condition. Conclusion: Of the five traits, neuroticism appears to be the most crucial dimension associated with the pain symptoms and patient's conditions. This study implies that management of pain must extend beyond solely providing pain-relieving medication and must require a holistic and multidisciplinary approach.

SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome.

Lynch syndrome is an autosomal dominant hereditary cancer syndrome in which many cancers develop, the main one being colorectal cancer. Germline pathogenic variants in one of four mismatch repair (MMR) genes are known to be causative of this disease. Accurate diagnosis using genetic testing can greatly benefit the health of those affected. Recently, owing to the improvement of sequence techniques, complicated variants affecting the functions of MMR genes were discovered. In this study, we analyzed insertions of a retrotransposon-like sequence in exon 5 of the MSH6 gene and exon 3 of the MSH2 gene found in Japanese families suspected of having Lynch syndrome. Both of these insertions induced aberrant splicing, and these variants were successfully identified by mRNA sequencing or visual observation of mapping results, although a standard DNA-seq analysis pipeline failed to detect them. The insertion sequences were ~2.5 kbp in length and were found to have the structure of an SVA retrotransposon (SVA). One SVA sequence was not present in the hg19 or hg38 reference genome, but was in a Japanese-specific reference sequence (JRGv2). Our study illustrates the difficulties of identifying SVA insertions in disease genes, and that the possibility of polymorphic insertions should be considered when analyzing mobile elements.

Comparison of Cerebral Blood Flow Patterns in Patients with Phantom Bite Syndrome with Their Corresponding Clinical Features.

BACKGROUND: Phantom bite syndrome (PBS) is characterized by an uncomfortable sensation during occlusion without any evident abnormality. A recent case-control study with single-photon emission computed tomography (SPECT) using 99mTc-ethyl cysteinate dimer could not find the specific features of regional cerebral blood flow (rCBF), which might be due to the heterogeneity of PBS. We analyzed the brain images of PBS corresponding to the clinical features by studying PBS subgroups. METHODS: This study contributes to elucidating the pathophysiology of PBS by evaluating regional brain perfusion on SPECT and its clinical features. We performed SPECT using 99mTc-ethyl cysteinate dimer in 44 patients with PBS. The SPECT images were analyzed qualitatively and quantitatively. RESULTS: Asymmetrical rCBF patterns were detected, corresponding to symptom laterality. Patients with PBS with right-side symptoms showed right-side-predominant rCBF asymmetry in the parietal region and left-side-predominant rCBF asymmetry in the thalamus, and vice versa. Moreover, the analysis of the association between rCBF and patient behaviors revealed that patients who blamed their dentists for their symptoms tended to have a symmetrical rCBF pattern. CONCLUSION: Patients with PBS showed blood flow imbalance in the thalamus and parietal region corresponding to symptom laterality. There are two types of symmetrical and asymmetrical rCBF patterns in the pathophysiology of PBS despite similar clinical manifestations.

Molecular Profiles of Breast Cancer in a Single Institution.

BACKGROUND/AIM: Historically, breast cancer has been treated according to an evaluation of biomarkers, such as the estrogen receptor and HER2 status. Recently, molecular profiling has been used to detect driver mutations and select anti-cancer treatment strategies. In addition to detecting pathogenic mutations, the total mutation count (tumor mutation burden) has been considered as another biomarker. MATERIALS AND METHODS: We performed molecular profiling of 143 breast cancer tissues obtained from resected tissues via surgical operation. RESULTS: Suspected germline mutations were detected in 10% of the patients with a higher somatic mutation ratio. CONCLUSION: As hypermutated breast cancers are more likely to benefit from certain anti-cancer treatment strategies, molecular profiling can be used as a biomarker.

Comorbid depressive disorders and left-side dominant occlusal discomfort in patients with phantom bite syndrome.

BACKGROUND: Phantom bite syndrome (PBS) is characterised by occlusal discomfort without corresponding dental abnormalities. Despite repeated, failed dental treatments, patients with PBS persist in seeking bite correction. PBS has been regarded as a mental disorder. However, we have reported that PBS patients with a dental trigger tend to have less psychiatric history than those without. Hence, the symptoms of PBS cannot be explained by a mental disorder alone, and it is unclear if mental disorders affect occlusal sensation. OBJECTIVE: To elucidate the pathophysiology of PBS, we analysed the dental history, PBS symptom laterality and psychiatric history of patients. METHODS: In this retrospective study, we reviewed outpatients with PBS who presented at our clinic between April 2012 and March 2017. Their medical records were reviewed for demographic data, medical history and laterality of occlusal discomfort. RESULTS: Approximately half of the 199 enrolled patients had bilateral occlusal discomfort. In the others, the side with occlusal discomfort generally tended to be the one that had received dental treatment. There was no significant relationship between the side chiefly affected by occlusal discomfort and whether dental treatment had been received; however, the affected side differed depending on whether the patient had comorbid psychiatric disorders (P = .041). CONCLUSIONS: The distributions of the side with symptoms of PBS were different between those with and without comorbid psychiatric disorders, suggesting that psychiatric disorders might affect occlusal sensation due to a subtle dysfunction in brain areas central to sensory integration. Central dysfunction might play an important role in PBS.

Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.

BACKGROUND: DKC1 (dyskerin pseudouridine synthase 1) is a causative gene for X-linked dyskeratosis congenita. Approximately 8% of patients with dyskeratosis congenita have malignancy, but information about the development of malignancy in patients with dyskeratosis congenita is limited. CASE PRESENTATION: A young Japanese patient with bone marrow failure developed metachronous rectal adenocarcinomas at the ages of 16 and 18 years. He had no family history of cancer. Microsatellite instability testing with rectal tumor tissue demonstrated low-level microsatellite instability. To clarify whether any cancer susceptibility genes were involved in the development of rectal cancer, RNA sequencing was performed. Cancer-related genes were assessed, and a c.361A>G (p.Ser121Gly) germline variant was detected in DKC1. The same missense variant was previously reported in two patients with dyskeratosis congenita as a pathogenic variant, but those patients did not develop malignancies. CONCLUSIONS: Our patient developed rectal cancer at an early age of onset compared with the previously reported typical onset age of patients with dyskeratosis congenita. DKC1 might be involved in predisposition to colorectal cancer in young adulthood; therefore, appropriate surveillance may be considered.

Atypical MRI and Histopathological Findings in Dermoid Cyst.

On images, a dermoid cyst is often described as resembling a "sack of marbles" or "marbles in a bag". Typically, it comprises an inhomogeneity filled with multiple nodules in a fluid matrix on both computed tomography and magnetic resonance imaging (MRI). How it appears, however, will vary depending on its histological contents, which may cause confusion in arriving at a diagnosis. This report describes a dermoid cyst in the floor of the mouth of a 55 year-old woman that showed an atypical internal appearance on MRI. Most of the lesion showed homogeneous high signal intensity on T1 - and T2-weighted images, suggesting that it was derived from fat. A small area within the mass, however, showed moderate signal intensity almost equal to that of muscle on T1-weighted images and high signal intensity on fat-suppressed T2-weighted images. Given the location of the lesion, a dermoid cyst was one possible diagnosis. A lipoma or lipoma variants were also considered, however, based on signal intensity. Histopathological section of the excised specimen revealed a dermoid cyst with sebaceous glands in its walls and keratin in its cavity. Dermoid cysts show variation in their internal structures and contents. Since MRI can reflect such histological variation, signal intensity requires careful interpretation.