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RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease‐gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype–phenotype relationships in the MAP4K4‐related disorder. This study reports on a Korean boy harboring a novel de novo missense variant in MAP4K4 (NM_001242559:c.569G>T, p.Gly190Val), revealed by trio exome sequencing, and located in the hotspot of the protein kinase domain. The patient exhibited various clinical features, including craniofacial dysmorphism, language delay, congenital heart defects, genitourinary anomalies, and sagittal craniosynostosis. Our study expands the phenotypic association of the MAP4K4‐related disorder to include syndromic craniosynostosis, thereby providing further insights into the role of the RAS/MAPK pathways in the development of premature fusion of calvarial sutures. [ABSTRACT FROM AUTHOR]

BackgroundMoyamoya disease (MMD) is a known progressive obstructive cerebrovascular disorder. Monitoring and managing mood and stress are critical for patients with MMD, as they affect clinical outcomes. The ecological momentary assessment (EMA) method is a longitudinal study design by which multiple variable assessments can be performed over time to detect momentary fluctuations and changes in psychological dimensions such as mood and stress over time. ObjectiveThis study aimed to identify predicting factors associated with momentary mood and stress at both the within-person and between-person levels and to examine individual fluctuation of mood over time in the short term using an EMA method combined with a mobile phone app. MethodsParticipants aged older than 18 years were recruited from a tertiary hospital in Seoul, Korea, between July 2018 and January 2019. The PsyMate scale for negative affect (NA) and positive affect (PA) and the Trier Inventory for Chronic Stress Scale were uploaded on patient mobile phones. Using a mobile app, data were collected four times a day for 7 days. Pearson correlations and mixed modeling were used to predict relationships between repeatedly measured variables at both the between-person and within-person levels. ResultsThe mean age of the 93 participants was 40.59 (SD 10.06) years, 66 (71%) were female, and 71 (76%) were married. Participants provided 1929 responses out of a possible 2604 responses (1929/2604, 74.08%). The mean momentary NA and PA values were 2.15 (SD 1.12) and 4.70 (SD 1.31) out of 7, respectively. The momentary stress value was 2.03 (SD 0.98) out of 5. Momentary NA, PA, and stress were correlated (P

Purpose The Korean Society of Pediatric Neuro-Oncology (KSPNO) conducted treatment strategies for children with medulloblastoma (MB) by using alkylating agents for maintenance chemotherapy or tandem high-dose chemotherapy (HDC) with autologous stem cell rescue (ASCR) according to the risk stratification. The purpose of the study was to assess treatment outcomes and complications based on risk-adapted treatment and HDC. Materials and Methods Fifty-nine patients diagnosed with MB were enrolled in this study. Patients in the standard-risk (SR) group received radiotherapy (RT) after surgery and chemotherapy using the KSPNO M051 regimen. Patients in the high-risk (HR) group received two and four chemotherapy cycles according to the KSPNO S081 protocol before and after reduced RT for age following surgery and two cycles of tandem HDC with ASCR consolidation treatment. Results In the SR group, 24 patients showed 5-year event-free survival (EFS) and overall survival (OS) estimates of 86.7% (95% confidence interval [CI], 73.6 to 100) and 95.8% (95% CI, 88.2 to 100), respectively. In the HR group, more infectious complications and mortality occurred during the second HDC than during the first. In the HR group, the 5-year EFS and OS estimates were 65.5% (95% CI, 51.4 to 83.4) and 72.3% (95% CI, 58.4 to 89.6), respectively. Conclusion High intensity of alkylating agents for SR resulted in similar outcomes but with a high incidence of hematologic toxicity. Tandem HDC with ASCR for HR induced favorable EFS and OS estimates compared to those reported previously. However, infectious complications and treatment-related mortalities suggest that a reduced chemotherapy dose is necessary, especially for the second HDC. [ABSTRACT FROM AUTHOR]

Background: Periodontitis is initiated or accelerated by dysbiosis of oral microorganisms. When hypertension is accompanied in periodontitis patients, changes of oral microbiota occur. Since there are no reports on antihypertensives, we assessed their effect on the oral microbial profiles of patients with periodontitis. Methods: This study involved 95 participants divided into two groups: those with periodontitis and hypertension (P_HT), and those with periodontitis and taking medications for hypertension (P_mHT). Plaque samples were collected from the buccal, supragingival, and subgingival sites of the oral cavities of these patients. DNA was extracted, and the V3–V4 region of the 16S ribosomal RNA was sequenced and analyzed. Results: The P_HT and P_mHT groups were similar with respect to the alpha‐ and beta‐diversity as well as the dominant phyla and genera, but differed in the relative abundance of bacterial species (85 species). In the P_mHT group, the relative abundance of major periodontal pathogens was greatly increased. In particular, Tannerella forsythia, Treponema denticola, and Fretibacterium fastidiosum increased nearly three times in the linear discriminant analysis score in the supragingival plaque. Also, there was an increase in the relative abundance of Prevotella spp., associated with periodontitis and nitrate reduction, which was also evident in the supragingival plaque. Conclusions: These findings indicate that antihypertensives induce dysbiotic changes in the oral microbiota of patients with periodontitis, which are associated with increases in the relative abundance of periodontal pathogens. Therefore, more active periodontal treatment and supportive periodontal therapy are required in patients taking antihypertensives. [ABSTRACT FROM AUTHOR]

Purpose: To identify the risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease based on Antonovsky's salutogenesis theory. Methods: This study used a qualitative descriptive design. We interviewed adolescents diagnosed with Moyamoya disease and their parents and experts with experience in treating them from 4 July 2019 to 10 October 2019. Data analysis was performed according to the process of deductive content analysis based on Antonovsky's salutogenesis theory. Results: This study identified risk and protective factors affecting a salutogenic sense of health in adolescents with Moyamoya disease. Risk factors were closely related to problems with friends, parent relationships and academic work. Protective factors were identified as emotional support through interpersonal relationships, positive attitudes to the disease situation, ability to understand and predict patterns of symptoms, increasing strength to resolve the state of tension and developing available resources. Conclusion: The factors affecting a salutogenic sense of health in adolescents were identified reflecting on the characteristics of the developmental stage of adolescents and the symptoms and situations that are unique to adolescents. It is important for adolescents with Moyamoya disease to recognize available resources and use them appropriately to successfully manage the state of tension caused by stress. Summary statement: What is already known about this topic? Adolescence is an important developmental stage in which individuals experience rapid physical and cognitive changes; these developmental changes can be more stressful for adolescents with Moyamoya disease.Stressful situations increase the frequency and worsen the symptoms of transient cerebral ischaemic attacks, and these negative experiences lead to depression, anxiety, low self‐esteem, negative self‐concept formation and social maladjustment, which persist until adulthood. What this paper adds? The risk factors affecting the salutogenic sense of health in adolescents with Moyamoya disease were related to problems with interpersonal relationships and academic work.The families of adolescents with Moyamoya disease play a pivotal role in increasing their strength to resolve their state of tension.It is important for adolescents with Moyamoya disease to identify and understand the resources available to them and use them appropriately to manage the state of tension. The implications of this paper: This study is meaningful in that the factors affecting the salutogenic sense of health were identified by reflecting on the unique characteristics of the developmental stage of adolescents.The results of this study will guide clinical nurse and researchers in developing interventions to maintain and promote the health of adolescents with Moyamoya disease. [ABSTRACT FROM AUTHOR]