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Background: Rubinstein-Taybi syndrome (RTS) is a rare autosomal-dominant disease. Almost all cases are sporadic and attributed to de novo variant. Psychotic symptoms in RTS are rare and have been reported in only a few published cases. On the other hand, 22q11.2 deletion syndrome is the most common chromosomal microdeletion in humans. The 22q11.2 deletion is well recognized as a risk factor for schizophrenia. Here, we present a schizophrenic psychosis case clinically diagnosed as RTS but resolved as carrying 22q11.2 deletion by genomic analysis., Case Presentation: A 38-year-old Japanese male was admitted to our hospital due to psychotic symptoms. He had been diagnosed with RTS based on physical characteristics at the age of 9 months. On admission, we performed whole exome sequencing. He had no pathogenic variant in CREBBP or EP300 . We detected 2.5 Mb deletion on 22q11.2 and one rare loss-of-function variant in a loss-of-function-constrained gene ( MTSS1 ) and three rare missense variants in missense-constrained genes ( CELSR3 , HERC1 , and TLN1 ). Psychotic symptoms were ameliorated by the treatment of risperidone., Conclusion: The psychiatric manifestation and genomic analysis may be a clue to detecting 22q11.2 deletion syndrome in undiagnosed patients. The reason for similarity in physical characteristics in 22q11.2 deletion syndrome and RTS remains unresolved. The 22q11.2 deletion and HERC1 contribute to the patient's phenotype., Competing Interests: The authors declare no conflict of interest., (© 2022 The Authors. Psychiatry and Clinical Neurosciences Reports published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Psychiatry and Neurology.)

Objective: The objective of the study is to investigate depressive symptoms before and after the initiation of chemotherapy and their impact on overall survival (OS) among patients with hematological malignancies., Methods: We performed a prospective analysis of consecutive patients with newly diagnosed malignant lymphoma or multiple myeloma enrolled between September 2010 and March 2016. We evaluated depression symptoms at two time points: before starting chemotherapy (T1) and 1 month later (T2), using PHQ-9 and known prognostic factors. We allocated participants with depressive symptoms at T1 and/or T2 to a depression group that was subdivided as follows: new depressive symptoms at T2, ("new-onset"), remission of depressive symptoms at T2 ("remission"), and persistent depressive symptoms from T1 to T2 ("persistent"). The main outcome, OS, was evaluated using Kaplan-Meier methods and multivariate Cox proportional hazards modeling., Results: Of the 294 eligible participants, we analyzed 255 patients, including 83 with depression. There were 19 participants in the new-onset, 38 in the remission, and 26 in the persistent depression group. The OS of participants with depression was significantly shorter than that of those without depression (adjusted hazard ratio [AjHR] 2.43; 95% confidence interval [CI] 1.43-4.12; P < .001). Using the never-depressive symptoms group as a reference group, AjHRs were as follows: new-onset, 1.91 (95% CI, 0.77-4.75; 0.166); remission, 2.98 (95% CI, 1.55-5.74; 0.001), and persistent, 2.17 (95%CI, 1.01-4.68; 0.047)., Conclusions: Among patients with mature lymphoid malignancy, the group with depression at baseline had a poorer survival, both in the group that remained depressive and the group that recovered from depressive symptoms., (© 2019 John Wiley & Sons, Ltd.)

Objective: Although meditation practice is an important component of many mindfulness-based interventions (MBIs), empirical findings of its effects on psychological functioning are mixed and the mechanisms for the effects remain unclear. Responding with mindfulness (i.e., returning one's attention back to a nonjudgmental, present-oriented awareness) is a fundamental skill practiced in meditations. With repeated meditation practice, this skill is thought to become internalized and be applied to one's daily life. We thus hypothesized that the extent to which individuals responded to daily events with mindfulness would mediate the effects of meditation practice (instance, duration, and adherence to instructions) on psychological well-being., Method: Using a daily diary methodology, we tracked the meditation practice, use of mindful responding during the day, and psychological outcomes (perceived stress, negative and positive affect) of 117 mindfulness-based stress reduction program participants., Results: We found that on days when participants meditated, they responded with greater mindfulness to daily events, which accounted for the beneficial effects of meditating on psychological outcomes. Furthermore, findings suggest that on meditation days, longer and more closely adhered meditation practices were independently associated with increases in mindful responding, which in turn were associated with better psychological outcomes., Conclusion: These results suggest that regular, longer, and more closely adhered meditation practice is an important component of MBIs, in part because it leads to responding more mindfully in daily life, which promotes well-being., (© 2017 Wiley Periodicals, Inc.)

Objective: We previously demonstrated that fasciitis is a common lesion of dermatomyositis (DM) that is detectable early after disease onset by en bloc muscle biopsy combined with magnetic resonance imaging (MRI). Power Doppler ultrasonography (PDUS) is a useful method for detection of inflammation and vascularity in rheumatic diseases. We undertook this study to determine whether fasciitis was detectable by PDUS in patients with DM., Methods: We prospectively evaluated 7 patients with DM and 7 patients with polymyositis (PM) for the detection of fasciitis with PDUS. MRI and PDUS were both performed in all patients. Fasciitis was histologically confirmed by en bloc biopsy., Results: Among all patients with DM, 4 showed signs of fasciitis on MRI, while increased blood flow signals were observed along the fascia by PDUS in 6 DM patients, including 4 patients with early disease (<2 months after the onset of muscle symptoms). Histologically, significant fasciitis was confirmed in 4 patients with DM. In the remaining 3 patients with DM, significant fasciitis was not evident histologically, but mild proliferation of capillaries and mild inflammation were notable in the area of the fascia. Immunohistochemical staining for CD31 indicated abnormal neovascular proliferation in the fascia in patients with DM. None of the PM patients showed signs of fasciitis or increased vascularity by MRI, PDUS, or en bloc biopsy., Conclusion: In our limited population, PDUS was useful for the detection of fasciitis associated with DM, especially in the early stage of disease. The increased blood flow signal as detected by PDUS is involved in angiogenesis accompanying fasciitis in patients with DM., (© 2016, American College of Rheumatology.)

Background: Melanoblasts (MBs), derived from neural crest cells, only differentiate into melanocytes (Ms) in vivo. We previously showed that MBs isolated from mouse skin were multipotent, generating neurons (Ns) and glial cells (Gs) together with Ms. Using Sox10-IRES-Venus mice and mouse embryonic stem cells, we investigated how MBs expressed their multipotency., Results: MBs generated colonies containing Ns, Gs, and Ms in the presence of ST2 stromal cells, but they generated only M colonies when incubated with keratinocytes or ST2 culture supernatant, thus showing that MBs required contact with ST2 stromal cells for expression of their multipotency. Notch signaling was shown to be one of the important cues for the maintenance and differentiation of MBs through cell-cell contact. When Notch signaling was inhibited, MBs mainly generated colonies that contained just one type of cells, Ns, Gs, or Ms; the number of colonies containing two or three types of cells markedly decreased even on ST2 stromal cells, showing restriction of their differentiation potency. Whereas when Notch signaling was activated, the number of colonies containing two or three types of cells increased, indicating that their multipotency had been maintained., Conclusions: Our results demonstrate that Notch signaling played novel roles in MB multipotency., (© 2016 Wiley Periodicals, Inc.)

Apocrine poromas are rare and distinctive benign adnexal neoplasms featuring tumor cells differentiating toward folliculosebaceous-apocrine units. We report an extremely rare case with multiple apocrine poromas in a single patient. Fifteen tumors were distributed on the head, neck, forearm and axilla of a 74-year-old man. All tumors were mostly composed of poroid cells that surrounded variably sized duct spaces, some of which exhibited decapitation secretion. The poroid cells were continuous with infundibulum-like structures that contained aggregates of mature sebocytes. The patient had no family history of similar tumors and no history of immunosuppressive therapy. This is the first report of multiple apocrine poromas, suggesting that predisposing genetic factors might play a part in the development of the tumors., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Ca(2+)/calmodulin-dependent protein kinase IV (CaM-kinase IV) is a multifunctional protein kinase that is expressed abundantly in the central nervous system and, to a lesser degree, in nonneuronal tissues such as the liver. In the current study, the authors demonstrated the expression of CaM-kinase IV in hepatocytes from hepatocellular carcinoma (HCC) in both humans and rats., Methods: Immunoblotting and immunohistochemical analysis were performed to confirm the expression of CaM-kinase IV and CaM-kinase kinase in HCC occurring in both humans and rats. The kinase activity of CaM-kinase IV in the lysate of each of these liver supernatant fluids was measured using a specific substrate (peptide gamma) for this enzyme before and after phosphorylation by exogenously added CaM-kinase kinase., Results: Marked positive staining of HCC hepatocytes was found and the subcellular staining pattern mainly was cytosolic. One immunoreactive band with a molecular weight of 64 kilodaltons, which was identical to an isoform of rat cerebellum CaM-kinase IV, was demonstrated by immunoblotting. Ca(2+)/calmodulin-dependent CaM-kinase IV activity was high in HCC and showed almost no difference in activity in specimens with and without CaM-kinase kinase phosphorylation., Conclusions: CaM-kinase IV was found to be expressed in HCC and might have been involved in the development of HCC. CaM-kinase IV that was expressed in cancerous hepatocytes was phosphorylated mainly by CaM-kinase kinase that also was expressed in tumor cells., (Copyright 2000 American Cancer Society.)

Human hepatocellular carcinomas (HCC) were examined aromatase activity, an enzyme that converts androgen into estrogen. Such activity was detected in all 13 specimens of HCC (mean activity, 120 fmol/30 min/mg microsomal protein). The activity tended to be lower in the HCC tissue than in the surrounding liver tissue (mean activity, 230 fmol/30 min/mg microsomal protein), although it was higher in the HCC tissue from three of eight patients with Edmondson's Grade 2 disease. This relationship was not found in the five with Grade 3 disease. On the whole, aromatase activity was significantly higher in specimens from patients with Edmondson's Grade 2 tumors than in the less differentiated Grade 3 type (P < 0.05). These observations suggested that aromatase activity was present in human HCC and was related to the degree of histologic differentiation.