Development of a nursing practice scale for rheumatoid arthritis treatment with biological disease-modifying anti-rheumatic drugs.

OBJECTIVE: The objective of the study was to develop a nursing practice scale for rheumatoid arthritis treatment with biological disease-modifying anti-rheumatic drugs. METHODS: An anonymous self-administered questionnaire survey was administered to 1826 nurses, 960 of whom were Certified Nurses by Japan Rheumatism Foundation (CNJRFs) and 866 were registered nurses (RNs). Using exploratory factor analysis, criterion validity, and known-groups technique, we assessed the reliability and validity of the self-created 19-item nursing practice scale to evaluate the care provided to patients with rheumatoid arthritis receiving biological disease-modifying anti-rheumatic drugs based on the nurse's role as clarified from a literature review of relevant studies. RESULTS: A total of 698 (38.4%) responses were collected from 407 CNJRFs and 291 RNs. Exploratory factor analysis was conducted on 18 items to examine three factors: 'nursing to enhance patients' capacity for self-care', 'nursing in which patients participate in decision-making', and 'nursing in which team medical care is promoted'. Cronbach's α was .95. The Spearman's coefficient was ρ = .738 for criterion validity. Using the known-groups technique, CNJRFs had higher total scale scores than RNs (P < .05). CONCLUSIONS: The results confirmed the reliability, criterion validity, and construct validity of the scale.

Development of a scale measuring home-visiting nurses' attitudes toward patient safety: a cross-sectional study.

BACKGROUND: Home-visiting nurses are required to recognize risks in their work, ensure patient safety according to the characteristics of home-visiting nursing, and therefore, effectively support stability in patients' lives. In this study, we created a scale measuring home-visiting nurses' attitudes toward patient safety and examined its reliability and validity. METHODS: A total of 2,208 home-visiting nurses from Japan were randomly selected as participants. From the 490 responses collected (response rate: 22.2%), 421 responses with no missing values, other than those related to participants' basic information (valid response rate: 19.0%), were analyzed. Participants were randomly divided into two groups: 210 for exploratory factor analysis (EFA) and 211 for confirmatory factor analysis (CFA). To examine the reliability of the home-visiting nurses attitude scale developed in this study, ceiling and floor effects, inter-item correlations, and item-total correlations were checked. Subsequently, EFA was performed to confirm the factor structure. CFA, composite reliability, average variance extracted, and Cronbach's alpha for each factor were extracted to confirm the factor structure of the scale and the validity of the model. RESULTS: The home-visiting nurses' attitudes toward patient safety were measured using 19 questionnaire items related to four factors: "Self-improvement for patient safety," "Incident awareness," "Counter measures based on incident experience," and "Nursing care to protect the lives of patients." Cronbach's α coefficients were 0.867, 0.836, 0.773, and 0.792 for Factors 1-4, respectively. Model indicators were χ2 = 305.155, df = 146, p < 0.001, TLI = 0.886, CFI = 0.902, RMSEA = 0.072 (90% confidence interval 0.061-0.083). CONCLUSIONS: From the results of the CFA, criterion-related validity, and Cronbach's α coefficient, this scale is considered reliable and valid and thus, highly appropriate. Therefore, it may be effective at measuring home-visiting nurses' attitudes toward patients' medical safety from both behavioral and awareness aspects.

Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child.

Patients with multisystem inflammatory syndrome in children (MIS-C) can develop clinical features resembling Kawasaki disease (KD). A full picture of MIS-C in East Asia which has higher incidence of KD than other regions remains unclear. We report on a 15-year-old Japanese boy with refractory MIS-C who was successfully treated with infliximab. A Japanese boy who was diagnosed with coronavirus disease 2019 (COVID-19) before a month developed MIS-C with fulfilling six principal symptoms of KD. Laboratory data showed extreme hyperferritinemia (11,404 ng/mL), besides lymphopenia and thrombocytopenia. The patient was refractory to initial therapy with intravenous immunoglobulin (IVIG; 2 g/kg), aspirin, and prednisolone. He was therefore administered a second IVIG (2 g/kg) and infliximab (5 mg/kg) on days 7 and 8 from the onset of fever, respectively, which resulted in an improvement of clinical symptoms. Only four Japanese cases with MIS-C were reported and all of them were responsive to IVIG. The hyperferritinemia in this case was distinctive from previously reported MIS-C cases in Japan and other cohorts and may be associated with refractoriness to IVIG therapy. Marked elevation of circulating ferritin levels is known to be induced by tumor necrosis factor-α, which plays a key role in the pathogenesis of both KD and MIS-C. Thus, for MIS-C patients with hyperferritinemia, early intervention with adjunctive infliximab may induce a more rapid resolution of inflammation and improve outcome. Because MIS-C may be heterogeneous with respect to immunopathology, genetic background, clinical phenotypes and response to therapies, optimized treatment strategies according to immunopathogenesis are required.

Obesity and febrile urinary tract infection in young children.

BACKGROUND: Obesity is a risk factor for infectious diseases. However, the relationship between obesity and febrile urinary tract infection (fUTI) is controversial. This study aimed to determine the relationship between obesity and fUTI in young children. METHODS: We analyzed the medical records of children aged <2 years who were admitted to our hospital because of fever between April 2013 to March 2018. The children were categorized into three groups of non-obese, overweight, and obese according to the World Health Organization weight-for-length curves for children aged <2 years. RESULTS: A total of 600 patients were enrolled in this study, of whom 118 were diagnosed with first fUTI. Patients in the fUTI group were younger than those in the control group (patients who were diagnosed with other febrile diseases) (5 ± 5.11 vs 11 ± 6.53 months; P < 0.001). There were no significant differences in the populations of overweight and obese children between the fUTI and control groups. In the fUTI group, the duration of fever, types of pathogen, recurrent rate, the grades of vesicoureteral reflux, and renal scarring were not associated with obesity. The white blood cell count and C-reactive protein levels were not significantly different among the three weight-for-length categories. The same results were obtained when the fUTI group was compared with an age-matched control group (n = 192, 4 ± 2.55 months old; P = 0.261). CONCLUSIONS: Obesity is not a significant risk factor for fUTI in febrile hospitalized young children. Our study suggests that conducting urinalysis for febrile young children without obvious sources, irrespective of obesity, should be considered.

Attitudes of home-visiting nurses toward risk management of patient safety incidents in Japan.

BACKGROUND: In situations of home care, patients and their family members must address problems and emergencies themselves. For this reason, home-visiting nurses (HVNs) must practice risk management to ensure that patients can continue receiving care in the comfort of their homes. The purpose of this study was to examine HVNs' attitudes toward risk management. METHODS: This study adopted a qualitative description approach. Semi-structured interviews were conducted to collect information on HVNs' risk management behavior and their attitudes toward it. Participants comprised 11 HVNs working at home-visiting nursing agencies in a prefecture of Japan. Transcribed interviews were analyzed using content analysis. RESULTS: Nurses' attitudes toward risk management comprised the following themes: (i) predicting and avoiding risks, (ii) ensuring medical safety in home settings, (iii) coping with incidents, and (iv) playing the role of administrators in medical safety, which was answered only by administrators. CONCLUSIONS: When practicing risk management, home-visiting nurses should first assess the level of understanding of the patient and family, followed by developing safety measures tailored to their everyday needs. These results further suggest that administrators should take actions to foster a working environment conducive to risk management. These actions include coordinating duties to mitigate risk and improve the process of reporting risks. This study provides a baseline for future researchers to assist patients and families requiring medical care services of this nature.

Factors associated with professional confidence in Japanese public health nurses: A cross-sectional survey.

OBJECTIVES: To clarify factors associated with professional confidence in Japanese public health nurses (PHNs) and to examine the relationship between professional confidence and professional competency. DESIGN: A cross-sectional study. SAMPLE: Public health nurses (N = 1,512) working in local government agencies. MEASUREMENTS: An anonymous, self-administered questionnaire with questions on demographic characteristics (sex, age, experience as a PHN, educational background, affiliation, and position) and 34 items on professional confidence developed by the researchers based on a literature review was administered. Factors associated with the professional confidence were extracted through an exploratory factor analysis, and construct validity of the confidence was verified through a confirmatory factor analysis. RESULTS: In total, 883 responses (response rate, 58.4%) were received; only 467 (30.9%) of them were valid. On the basis of the exploratory factor analysis results, professional confidence included 17 items, with the following four factors: "technical practice," "effortful learning," "exploring the evidence," and "educators in workplace." The goodness-of-fit model in the confirmatory factor analysis proved the construct validity of professional confidence. CONCLUSIONS: Professional confidence was gained by self-improvement that reflects on public health practice. Professional confidence underpinned the generalist level of professional competency among PHNs.

Positive appraisal of in-home family caregivers of dementia patients as an influence on the continuation of caregiving.

BACKGROUND: We attempted to determine the factors that influence the continuation of in-home caregiving for patients with dementia. METHODS: The participants were family caregivers of dementia patients who received home care services. Data were collected via a questionnaire completed by caregivers and then returned in the mail. Of the 705 caregivers who received the questionnaire, 405 completed and returned it (response rate: 57.4%). RESULTS: The average age of the caregivers was 63.9 ± 11.5 years, and they had been providing care for an average of 5.1 ± 4.1 years. The average age of the patients was 84.7 ± 7.4 years. We analyzed the path model. Caregivers' current feelings about continuing caregiving were directly affected by a positive appraisal of caregiving (ß = 0.20, P < 0.001) and by the burden they experienced (ß = -0.39, P < 0.001). The continuation of caregiving of patients with worsening symptoms was directly affected by a positive appraisal of caregiving (ß = 0.15, P < 0.01) and by the burden experienced by the caregivers (ß = -0.46, P < 0.001). The continuation of caregiving was indirectly affected by the patients' cognitive impairment and by the behavioral and psychological symptoms of dementia score. CONCLUSIONS: The continuation of in-home caregiving among caregivers of patients with dementia was affected by both positive appraisal and caregiver burden. In addition, the present study revealed that behavioral and psychological symptoms of dementia score indirectly affects the continuation of caregiving by directly affecting caregiver burden.

Factors related to a sense of economic insecurity among older adults who participate in social activities.

Japan has the highest life expectancy worldwide. Older adults who experience economic insecurity may refrain from seeking medical consultation or using long-term care insurance, and these behaviors may increase the incidence and progression of frailty. This study conducted a cross-sectional survey to identify factors related to a sense of economic insecurity among older adults who participate in social activities, and identified support measures. In total, 1,351 older adults aged ≥65 years who had participated in social activities voluntarily completed an anonymous self-administered questionnaire. The questionnaire encompassed their physical, cognitive, social, and psychological conditions, and economic insecurity. We performed univariate analysis considering a sense of economic insecurity as the dependent variable, and conducted multiple logistic regression analysis (forced entry method) considering the independent variables with p<0.1 as the covariates. Among the 872 filled questionnaires, 717 were analyzed as they had no missing data with respect to the responses to survey questions (valid response rate was 53.1%). Analysis results showed that 43.6% of the older adults had a sense of economic insecurity, which was most common among those aged 75-84 years, accounting for 47.3%, followed by those aged 65-74 years accounting for 44.1%, and those aged ≥85 years accounting for 31.5% (p<0.05). The sense of economic insecurity was not associated with physical conditions, subjective symptoms of dementia, or social conditions; however, it grew with increased loneliness (OR: 1.71, 1.002-2.92, p = 0.049) and decreased with an increased subjective sense of well-being (OR: 0.86, 0.81-0.92, <0.001). Economic insecurity among older adults was not associated with physical, cognitive, or social aspects, as reported in previous studies. The survey respondents constituted older adults who participate in social activities. Maintaining interactions within the community, even in old age, may prevent loneliness and improve subjective health.

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

CONTEXT: Recently developed long-read sequencing (LRS) technology has been considered an option for CYP21A2 analysis. However, the clinical use of LRS for CYP21A2 analysis is limited. OBJECTIVE: This study's objective is to develop an efficient and low-cost LRS system for CYP21A2 screening. METHODS: A DNA fragment library was prepared in a single polymerase chain reaction (PCR) that covers the entire CYP21A2 gene and all known junctions caused by TNXB gene structural rearrangements, yielding a single 8-kb product of CYP21A2 or CYP21A1P/CYP21A2 chimera. After barcoding, the PCR products were sequenced on a MinION-based platform with Flongle Flow Cell R9.4.1 and R10.4.1. RESULTS: The reference genotypes of 55 patients with 21-hydroxylase deficiency (21OHD) were established using the conventional method with multiplex ligation-dependent probe amplification (MLPA) and nested PCR. LRS using Flongle Flow Cell R9.4.1 yielded consistent results. Additionally, the recently updated LRS "duplex" analysis with Flongle flow cell R10.4.1 was tested to reveal an advantage of accurately sequencing a variant located on the homopolymer region. By introducing a barcode system, the cost was reduced to be comparable to that of conventional analysis. A novel single-nucleotide variation was discovered at the acceptor site of intron 7, c.940-1G > C. We also identified a subtype of the classical chimeric junction CH2, "CH2a," in the region from the latter part of intron 5 to exon 6. CONCLUSION: We successfully established a novel low-cost and highly accurate LRS system for 21OHD genetic analysis. Our study provides insight into the feasibility of LRS for diagnosing 21OHD and other genetic diseases caused by structural rearrangements.

Children's Diet and Nutrition in the Aftermath of the Torrential Rain Disaster in Western Japan: An Evaluation of Support Activities by Dietitians to Alleviate Mothers' Anxieties.

OBJECTIVE: The purpose of this study was to clarify whether the support activities of dietitians during disasters were able to address the problems faced by mothers about their children's diet and nutrition. METHODS: Dietitians (7 in total) and mothers (8) were selected by the snowball sampling method. Semi-structured interviews were used to conduct focus group interviews about children's diet and nutrition. Verbatim data were generated, and an inductively qualitative descriptive analysis was conducted. RESULTS: Six categories were generated for each group. Dietitians responded to problems that mothers had regarding their children's diet and nutrition via 2 activities: [dealing with allergy food shortages] and [school lunch support]. CONCLUSION: It is important for dietitians to recommend stockpiling allergy-friendly foods to accommodate children with allergies and achieve early resumption of school lunches to meet children's nutritional needs.

Cross-cultural metathemes of Chinese and Japanese university students' perspective on parental care.

Introduction: Due to declining birthrates and aging populations, parental care is going to place a greater burden on younger generations in the future, especially in East Asia where it is more common for children to provide care regardless of whether there is a national long-term care insurance program. Therefore, it has become important to understand the younger generation's views on parental care. Methods: An explorative, metathematic qualitative study design was used. Data collection relied on semi-structured interviews, of which 19 Chinese and 19 Japanese university students were conducted from December 2021 to July 2022 using a snowball sampling method. Metatheme analysis was then used to identify broad cross-cultural metathemes and inter-relationships on parental care. Results: Three parental care metathemes were identified for the perspectives of parental care: distrust of leaving parental care to others, responsibility to care for their parents, and importance of parent-child interactions about parental care. Conclusion: To improve social support for care, both countries must improve long-term care service delivery and healthcare systems and ensure that there is a trusting relationship between healthcare professionals and the public. Governments should also ensure that adult children receive assistance to balance their work, life, and parental care responsibilities. The findings provide several practical suggestions for improving healthcare systems in China and Japan through the younger generations' views.

Developing a scale for examining the perspective of university students on parental care.

Introduction: With the declining birth rate and increasingly aging population in Japan, an increased care burden may be placed on the family and the younger generation will address challenging circumstances when they can care for their parents. This study aimed to develop a scale for examining the perspectives of Japanese university students on parental care and determines its reliability and validity. Methods: A web-based survey on a total of 408 Japanese students was adopted. This study performed exploratory and confirmatory factor analyses to obtain the underlying factors of the scale. Reliability was verified using Cronbach's α coefficient and Spearman-Brown's split-half reliability α coefficient. Validity was verified through sample, criterion-related, and convergent and discriminant validity. Results: In total, the study identified a three-factor 11 item-scale. Cronbach's α for the scale was 0.901, and the Cronbach's α and split-half reliability α coefficients of each factor were greater than 0.7. Three factors explained 64.6% of the total variance. The model indicators were χ2/df = 2.241, comparative fit index (CFI) = 0.951, incremental fit index (IFI) = 0.951, TLI = 0.942, root mean square error of approximation (RMSEA) = 0.078 (p < 0.001). Thus, the study confirmed that the convergent and discriminant validity is acceptable. Correlations were noted for criterion-related validity (r = 0.675, p < 0.001). Discussion: The results show that the scale for examining the perspective of Japanese university students on parental care was confirmed with good reliability and validity.

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.

INTRODUCTION: The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified. CASE PRESENTATION AND RESULTS: The proband (16-year-old social female) had a 46,XX karyotype with dysplastic testes and moderate virilization in genitalia. A ZF4 variant, p.Arg495Gln, in WT1 was identified in the proband, her brother, and mother. The mother did not show any virilization with normal fertility, and the 46,XY brother developed normal puberty. CONCLUSION: The phenotypic variations due to the ZF4 variant are extremely broad in 46,XX cases.

BMP2 is a potential causative gene for isolated dextrocardia situs solitus.

BMP2 (bone morphogenic protein-2) is a member of the TGF-ß superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. However, due to a small number of reported patients with BMP2 haploinsufficiency, the genotype and phenotype correlations are not fully understood. We experienced a family of BMP2 haploinsufficiency with a novel frameshift variant NM_001200.4: c.231dup (p.Tyr78Leufs*38) which was predicted to be "pathogenic" by the American College of Genetics and Genomics (ACGM) criteria. In addition to short stature, impaired hearing ability and minor skeletal deformities, the proband exhibited isolated dextrocardia situs solitus without cardiac anomalies and abnormal locations of other visceral organs. Our study would shed light on the crucial role of BMP2 in determining the cardiac axis, and further studies are needed to assemble more cases to elucidate BMP2 role in human heart development.

[Professional confidence of public health nurses and related factors].

OBJECTIVES: The present study attempts to clarify the level of professional confidence of public health nurses and to identify the factors that may influence this confidence. METHODS: An anonymous, self-administered, voluntary, paper-based questionnaire was distributed to 328 public health nurses working full-time within prefectures and municipalities. Professional categorization was conducted by referencing the relevant literature and a factor analysis was performed to investigate construct validity and reliability coefficients. The factors considered influential to participant's confidence were classified as "individual factors", "workplace factors", and "educational factors within the current education system". The relationship between these factors and participants' professional confidence was then analyzed. RESULTS: In total, we received 203 responses (61.9%) by mail. Of these, 117 (35.7%) were valid. The mean age of respondents was 44.1 +/- 9.49 years. On the basis of the number of years of experience, they were classified into newly-hired (6.8%), middle management position (59.9%), and administrative position (33.3%). Municipal public health nurses accounted for 77.8% of the respondents, while 22.2% were prefectural public health nurses. The professional components considered to influence respondents' confidence were found to consist of 19 items in three major areas: (1) management and clerical work according to the position held, (2) individual counseling services based on health guidance, and (3) scientific evidence-based evaluation. Professional confidence is built on following three factors "individual factors" (based on years of service), "workplace factors" (affiliations and official title), and "educational factors within the current education system" (registration with an academic society or participation in case study meetings and project meetings). CONCLUSION: The results suggest that to improve their professional confidence, public health nurses require not only an accumulation of experience but also improvements in the current education system, including training on objective evaluation of individual cases and business reviews.

A New Health Promotion Program That Includes Wadaiko Rhythm Exercise to Maintain the Health of Persons Excluded from Receiving Specific Health Guidance.

This study examined the effectiveness of a new health promotion program, which is a collective intervention program aimed at improving lifestyle habits. It was designed as a one-year prospective cohort study. This program targeted non-obese persons at risk of developing lifestyle-related diseases and participants with hypertension, dyslipidemia, or hyperglycemia who were not included in the specific health guidance system in Japan. The Wadaiko rhythm exercise, which is a traditional performing art, is incorporated into this intervention as an enjoyable routine that can help participants continue the program, preventing them from dropping out. After a one-year follow-up, the effectiveness of the health promotion program was evaluated in 18 participants (2 males, 16 females; mean age 65.2 ± 3.4 years) and 92 controls. The results showed that triglyceride in the intervention group significantly decreased (−24.5 mg/dL; p = 0.02; 95% confidence interval [CI], −44.73 to −4.27) and high-density lipoprotein cholesterol significantly increased (+6.1 mg/dL; p < 0.01; 95% CI, 2.46 to 9.65), although levels in the control group did not change. These results suggest that the health promotion program could contribute to lifestyle habit improvements in those who are excluded from receiving specific health guidance.

The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.

CONTEXT: There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by liquid chromatography-tandem mass spectrometry (LC-MS/MS). OBJECTIVE: We aimed to define an algorithm for newborn screening of 21OHD by LC-MS/MS, measuring a total of 2077 dried blood spot samples in Tokyo. METHODS: Five steroids (17α-hydroxyprogesterone [17αOHP], 21-deoxycortisol [21DOF], 11-deoxycortisol [11DOF], androstenedione [4AD], and cortisol [F]) were included in the panel of LC-MS/MS. Samples from 2 cohorts were assayed: Cohort A, 63 "screening positive" neonates who were referred to an endocrinologist (n = 26 with 21OHD; n = 37 false-positive; obtained from 2015 to 2020); and Cohort B, samples (n = 2014) with 17αOHP values in the 97th percentile or above, in the first-tier test with 17αOHP ELISA from 2020 to 2021. RESULTS: Analysis of Cohort A revealed that the 3 indexes 21DOF, 11DOF/17αOHP, and (4AD + 17αOHP)/F had higher area under the curve (AUC) values (0.999, 0.997, 0.989, respectively), while the 17αOHP AUC was lower (0.970). Accordingly, in addition to 17αOHP, the 3 markers were included for defining the screening algorithm. The assay of Cohort B revealed that the new algorithm gave 92% of predicted positive predictive value without false-negative cases. We also determined the reference values for the 5 steroids at 4 to 7 days after birth, according to sex and gestational age (GA), revealing extremely low levels of 21DOF at any GA irrespective of sex differences. CONCLUSION: Our study demonstrated the high relevance of 21DOF, (4AD + 17αOHP)/F, and 11DOF/17αOHP, rather than 17αOHP, for 21OHD screening.

A Study of the Structure of Japanese University Students' Awareness of Long-Term Care Socialization.

This study aimed to examine the structure of the awareness of long-term care socialization by focusing on the younger generation's awareness in order to improve a sustainable long-term care system. A questionnaire that assessed personal attributes and awareness of long-term care socialization was administered. In total, the answers of 209 students (48.4%) were collected for factors related to the awareness of long-term care socialization extracted through exploratory factor analysis. Additionally, the responses 149 students (56.7%) were collected for the construct validity verified through confirmatory factor analysis. According to the exploratory factor analysis, awareness of long-term care socialization included 10 items and three factors: "care burden when caring for family", "feelings about leaving family care to society", and "sense of responsibility to care for family as a member of the family". The goodness-of-fit model in the confirmatory factor analysis proved the awareness of long-term care socialization scale's construct validity. The structure of the awareness of long-term care socialization included three factors: "care burden when caring for family", "sense of responsibility to care for family as a member of the family", and "feelings about leaving family care to society". This study demonstrated the scale's good reliability and validity.

Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis.

A six-year-old boy was referred with a one-and-a-half months history of polyuria and polydipsia. At the age of two, he had a single lytic bone lesion in his femoral head, diagnosed as Langerhans cell histiocytosis (LCH) by biopsy at another hospital. As no other affected organs were detected and the affected bone lesion was self-limited, he was not followed up afterward and was doing well. He was diagnosed with diabetes insipidus (DI) by confirming hypernatremia (Na: 148 mEq/l) with hyperosmolar serum (s-Osm 298 mOSM/kg) and inappropriately diluted urine (u-Osm 205 mOSM/kg). His polyuria and polydipsia improved dramatically using the perioral diuretic hormone, and other pituitary functions were not impaired. Magnetic resonance imaging revealed an enlarged pituitary stalk. Sensitive and specific biomarkers of germ cell tumors, including alpha-fetoprotein, placental alkaline phosphatase, and ß-hCG in the cerebrospinal fluid, were not detected, indicating relapse of LCH. Genetic analysis revealed a BRAF V600E mutation in the primary bone lesion. We recommend systematic follow-up of patients with a history of LCH, even non-CNS single-system single-site disease, especially with BRAF V600E mutation.