Journal of UOEH最新文献_第4页

Prevalence of Sickness Presenteeism and Contributing Factors Among Formal Sector Workers in Indonesia: A Cross-Sectional Study. 印度尼西亚正规部门工人的出勤率及其影响因素：一项横断面研究。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.45

Jessica Sidharta, Nuri Purwito Adi, Marsen Isbayuputra, Dewi S Soemarko, Herqutanto

{"title":"Prevalence of Sickness Presenteeism and Contributing Factors Among Formal Sector Workers in Indonesia: A Cross-Sectional Study.","authors":"Jessica Sidharta, Nuri Purwito Adi, Marsen Isbayuputra, Dewi S Soemarko, Herqutanto","doi":"10.7888/juoeh.47.45","DOIUrl":"https://doi.org/10.7888/juoeh.47.45","url":null,"abstract":"Sickness presenteeism is a condition in which an individual who is physically or mentally ill still comes to work. We obtained the prevalence of sickness presenteeism and contributing factors in formal sector workers in Indonesia. A cross-sectional study was done with 590 participants. Sickness presenteeism was determined by the health problems experienced in the last month before the study. Data analysis was done using the chi-square bivariate test and the logistic regression multivariate test. The majority of the participants were healthcare workers (33.9%) and from Jawa Island (64.1%). Out of 590 participants, the prevalence of sickness presenteeism was 26.1% (n=154). Multivariate analysis results showed that age (P =0.032), education level (0.026), and area of employment (Sumatera (P=0.022), and Kalimantan (0.031)) were statistically significant. This study found that the development of sickness presenteeism correlates with younger age, higher education level, and area of employment. These factors may affect work culture in the participating workplace and might result in the sickness presenteeism discovered in this study.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 2","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parents' Oral and Dental Health Literacy and Its Relation to the Health Status of the Children Visiting Referral Hospitals in 2023. 2023年转诊儿童家长口腔牙齿健康素养及其与健康状况的关系

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.115

Najminouri Fatemeh, Bagheri Soroosh, GhorbaniNia Rahil

{"title":"Parents' Oral and Dental Health Literacy and Its Relation to the Health Status of the Children Visiting Referral Hospitals in 2023.","authors":"Najminouri Fatemeh, Bagheri Soroosh, GhorbaniNia Rahil","doi":"10.7888/juoeh.47.115","DOIUrl":"https://doi.org/10.7888/juoeh.47.115","url":null,"abstract":"Health literacy is among the contributing factors in promoting oral and dental health. Parents can influence their children's health awareness and improve their health-related behaviors. This study investigated the relationship between parents' oral and dental health literacy and the oral and dental health of the children visiting Kerman's referral hospitals. This descriptive-analytical cross-sectional study randomly selected 506 parents who brought their children to Kerman referral hospitals in 2023. Data were gathered via a demographic questionnaire and the Parental Oral Health Literacy Measure (POHELM) questionnaire. The results were assessed via the chi-square test, Fisher's exact test, independent t-test, Fisher's correlation, Tukey's post hoc test, and ANOVA using SPSS ver. 26. The total score of the participants' health literacy was 63.04 ± 14.71. There was an inverse and significant correlation between the total score of the parent's health literacy and their age. There was also a significant relation between this score and the parent's level of education, the parent's perception of the child's dental and oral health level, the number of visits to the dentist, tooth brushing, flossing, and mouthwash use (P < 0.001). The total health literacy score was significantly higher in the mothers than in the fathers. It is recommended that health policymakers pay more attention to the factors contributing to parents' oral health literacy. Moreover, suitable accommodations should be provided to improve parents' oral health literacy so as to improve their children's dental and oral health status.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 3","pages":"115-124"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144959265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Solitary Extraarticular Synovial Chondromatosis; Radiologic-Pathologic Correlation. 孤立性关节外滑膜软骨瘤病；Radiologic-Pathologic相关性。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.147

Toshihiro Sakamoto, Yoshiko Hayashida, Mika Uruha, Mutsumi Yoshida, Akitaka Fujisaki, Hirotaka Inoue, Kanako Takei, Yo Todoroki, Masanori Hisaoka, Akinori Sakai, Takatoshi Aoki

{"title":"Solitary Extraarticular Synovial Chondromatosis; Radiologic-Pathologic Correlation.","authors":"Toshihiro Sakamoto, Yoshiko Hayashida, Mika Uruha, Mutsumi Yoshida, Akitaka Fujisaki, Hirotaka Inoue, Kanako Takei, Yo Todoroki, Masanori Hisaoka, Akinori Sakai, Takatoshi Aoki","doi":"10.7888/juoeh.47.147","DOIUrl":"10.7888/juoeh.47.147","url":null,"abstract":"Synovial chondromatosis (SC) is a locally aggressive neoplasm consisting of multiple hyaline cartilaginous nodules. This neoplasm typically manifests as multiple intra-articular calcified or uncalcified nodules, whereas the extraarticular form is particularly rare. We herein present a case of solitary extraarticular SC arising in the hand and correlate the imaging findings with pathologic findings. A male patient in his 60s presented with a progressively enlarging mass in his left hand over a period of three years. Radiograph showed a lobulated calcified mass adjacent to the first metacarpal bone. Computed tomography (CT) revealed ring and arc calcification, indicating cartilaginous lesion. No continuity with bone was observed. In magnetic resonance imaging (MRI), the signal of the mass was heterogeneous low to high intensity on both T1- and T2-weighted images. High intensity reflecting fat on T1-weighted image and marked high intensity reflecting cartilage on fat-suppressed T2-weighted image were shown in the mass. After gadolinium administration, the enhancement of the mass was faint. An en bloc excision of the mass was performed, and the tumor was histologically diagnosed as extraarticular SC. Microscopically, the tumor consisted of fibrous tissue, mature fat tissue, and lobules of cartilage. Extraarticular SC should be taken into consideration when cases of lobulated soft tissue mass with ring and arc calcification and a fat component (T1 hyperintense) in the hand are encountered.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 3","pages":"147-152"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144959196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effects of a Phantom Snacking Experience on Quantitative Alterations of Human Emotions Using KANSEI Analyzer With Electroencephalography. 幻影零食体验对人类情绪定量变化的影响，使用感性分析仪与脑电图。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.79

Ko Izumi, Eisaku Ohta, Ryonosuke Ono, Risa Kashiwagi, Tatsuya Mori, Yoko Kohata, Masami Oshio, Kin-Ya Kubo, Kagaku Azuma

{"title":"Effects of a Phantom Snacking Experience on Quantitative Alterations of Human Emotions Using KANSEI Analyzer With Electroencephalography.","authors":"Ko Izumi, Eisaku Ohta, Ryonosuke Ono, Risa Kashiwagi, Tatsuya Mori, Yoko Kohata, Masami Oshio, Kin-Ya Kubo, Kagaku Azuma","doi":"10.7888/juoeh.47.79","DOIUrl":"https://doi.org/10.7888/juoeh.47.79","url":null,"abstract":"We examined the effects of the phantom snacking experience and mastication behavior on human emotions using a compact electroencephalography (EEG) and a KANSEI analyzer. Forty participants were divided into young adult and middle-aged groups. All participants experienced both mastication and phantom snacking. We extracted the emotional parameters from the EEG. There were no significant differences in the levels of alertness, concentration, liking, and stress between the mastication and phantom snacking experiences of younger adults. In the middle-aged group, the interest level was significantly higher, the alertness level was significantly lower, and the stress level tended to be lower in the phantom snacking group than in the mastication group. The interest level tended to be higher, the alertness, and stress levels were significantly lower in the middle-aged phantom snacking group when compared to the younger adult phantom snacking group. Our findings reveal that phantom snacking, similar to mastication, can have a positive effect on the emotions of young adults, and the effects of phantom snacking were better than those of mastication in the middle-aged individuals. Phantom snacking may be a practical method to increase interest, improve work efficiency, and decrease psychological stress.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 2","pages":"79-86"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Validation of the Japanese Version of the Survey of Perceived Supervisor Support. 日文版主管支持感调查之验证。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.125

Takahiro Mori, Kiminori Odagami, Tomohisa Nagata, Akiomi Inoue, Koji Mori

{"title":"Validation of the Japanese Version of the Survey of Perceived Supervisor Support.","authors":"Takahiro Mori, Kiminori Odagami, Tomohisa Nagata, Akiomi Inoue, Koji Mori","doi":"10.7888/juoeh.47.125","DOIUrl":"https://doi.org/10.7888/juoeh.47.125","url":null,"abstract":"Perceived supervisor support (PSS) is an important factor in employees' health and well-being, and organizational outcomes. This study aimed to develop a Japanese version of the Survey of Perceived Supervisor Support (SPSS-J) and to evaluate its validity and reliability for assessing PSS in Japanese workers. The SPSS-J, including its subscales, SPSS-J (Sufficiency of Positive Aspects [SPA]) and SPSS-J (Minimality of Negative Aspects [MNA]), was developed based on the Japanese version of the Survey of Perceived Organizational Support (SPOS-J). An online survey was conducted with 1,946 participants, followed after two weeks by a test-retest survey with 589 participants. Structural validity was assessed using confirmatory factor analysis (CFA), and convergent validity was evaluated through Pearson's correlations. Internal consistency and test-retest reliability were determined using Cronbach's α coefficients and intraclass correlation coefficients (ICCs). CFA confirmed that the two-factor model provided a generally good fit, supporting structural validity. Both SPSS-J (SPA) and SPSS-J (MNA) demonstrated expected correlations with SPOS-J and its subscales, as well as possible antecedents (e.g., job autonomy and strengths-based performance appraisal) and outcomes (e.g., work engagement, organizational affective commitment, and turnover intention). The SPSS-J (SPA) consistently showed stronger correlations than the SPSS-J (MNA). Its internal consistency was high, with Cronbach's α coefficients of .92 for SPSS-J (SPA) and .87 for SPSS-J (MNA). The test-retest reliability was also high, with ICCs of 0.77 and 0.74, respectively. Our study indicates that the SPSS-J is a reliable and valid tool for assessing PSS. The SPSS-J (SPA) may offer a practical alternative as a shortened version, reducing respondent burden.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 3","pages":"125-134"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144959202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An Adult Case of Symptomatic Porencephalic Cyst Following Removal Massive Subcortical Hematoma. 大量皮质下血肿切除后出现症状性脑孔囊肿1例。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.21

Shohei Noguchi, Hirotsugu Ohta, Atsutomo Hashida, Junkoh Yamamoto

{"title":"An Adult Case of Symptomatic Porencephalic Cyst Following Removal Massive Subcortical Hematoma.","authors":"Shohei Noguchi, Hirotsugu Ohta, Atsutomo Hashida, Junkoh Yamamoto","doi":"10.7888/juoeh.47.21","DOIUrl":"10.7888/juoeh.47.21","url":null,"abstract":"The hematoma cavity typically remains collapsed after intracranial hematoma evacuation, but here we report an adult case in which the cavity expanded into a cystic form, developing into a porencephalic cyst, after the removal. A 73-year-old woman was admitted to our hospital presenting with a disturbance of consciousness. A CT scan showed a subcortical hemorrhage with a blend sign and brain herniation, prompting emergent hematoma evacuation. Although there was an improvement in her symptoms after the operation, her consciousness deteriorated on the 14th day post-operation. A CT scan revealed a porencephalic cyst. Reoperation was performed, and no further recurrence of the cyst was noted. Reports of hematoma cavities expanding into a cystic form after hematoma removal are rare, and the mechanisms of such cyst expansion are not well understood. In this case, we hypothesize two pathways: 1) Residual hematoma components moving through the ventricular wall due to osmotic pressure differences between the hypertonic fluid and cerebrospinal fluid (CSF), and 2) Protein-rich plasma components leaking out of cells due to blood-brain barrier (BBB) disruption caused by cerebral hemorrhage. We also consider the possibility of a check valve mechanism.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 1","pages":"21-25"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Occurrence of Occupational Health Risk and Associated Factors Among Thai Nursing Students: A Cross-Sectional Study. 泰国护生职业健康风险发生及相关因素的横断面研究。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.69

Nisakorn Krungkraipetch, Tatirat Tachasuksri, Saifone Moungkum, Tanawan Asarath, Warisa Kanbuala

{"title":"The Occurrence of Occupational Health Risk and Associated Factors Among Thai Nursing Students: A Cross-Sectional Study.","authors":"Nisakorn Krungkraipetch, Tatirat Tachasuksri, Saifone Moungkum, Tanawan Asarath, Warisa Kanbuala","doi":"10.7888/juoeh.47.69","DOIUrl":"10.7888/juoeh.47.69","url":null,"abstract":"Nursing students are exposed to health hazards during their clinical practice. This analytic cross-sectional study assessed such risks and the examined related factors in 219 nursing students. Participants were selected through cluster random sampling, and data were gathered via self-administered questionnaires that covered socio-demographic characteristics, occupational health literacy, support from teachers and healthcare personnel, clinical practice safety behaviors, and occupational health risks. Descriptive statistics and binary logistic regression analysis were used to analyze the data. Results indicated that psychosocial hazards were the most common risk (37.4%), followed by biological hazards (26.15%) and ergonomic factors (12.8%). Female gender (AOR = 4.15, 95% CI = 1.28-13.47), low clinical safety behaviors (AOR = 1.80, 95% CI = 1.03-3.14), and low occupational health literacy (AOR = 2.54, 95% CI = 1.13-5.74) were significantly associated with higher risks. This study highlights the need for targeted interventions to improve safety behaviors and occupational health literacy, emphasizing enhancements in training programs, support systems, personal protective equipment (PPE) adequacy, and ergonomic practices.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 2","pages":"69-78"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Post-EUS-FNB Mediastinal Abscess in a Lung Cancer Patient With Mediastinal Lymph Node Metastasis: A Case Report and Literature Review. 肺癌纵隔脓肿合并纵隔淋巴结转移1例报告并文献复习。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.201

Koichiro Miyagawa, Daiki Uchihara, Tsuyoshi Ueda, Kosuke Hideshima, Nobuhiko Shinohara, Shinji Oe, Yuichi Honma, Masaru Harada

{"title":"Post-EUS-FNB Mediastinal Abscess in a Lung Cancer Patient With Mediastinal Lymph Node Metastasis: A Case Report and Literature Review.","authors":"Koichiro Miyagawa, Daiki Uchihara, Tsuyoshi Ueda, Kosuke Hideshima, Nobuhiko Shinohara, Shinji Oe, Yuichi Honma, Masaru Harada","doi":"10.7888/juoeh.47.201","DOIUrl":"https://doi.org/10.7888/juoeh.47.201","url":null,"abstract":"We report a case of mediastinal abscess formation following endoscopic ultrasound-guided tissue acquisition (EUS-TA) performed for the diagnosis of mediastinal lymphadenopathy. A 50-year-old man, who had undergone surgery for lung cancer and received adjuvant chemotherapy, presented two months after completing chemotherapy with subcarinal lymph node enlargement on computed tomography (CT) and fluorodeoxyglucose (FDG) uptake on positron emission tomography (PET)-CT. The size of the lymph node increased more than twofold over the following month, as revealed by evaluation with EUS. EUS-TA was then performed, confirming lymph node metastasis from lung cancer. Six days later, contrast-enhanced CT revealed a hypodense lesion with marginal enhancement surrounding the punctured lymph node, leading to the diagnosis of a mediastinal abscess. The patient's clinical condition improved with conservative treatment using intravenous antibiotics. The abscess formation was primarily outside the lymph node, suggesting that the puncture needle may have inoculated bacteria into a poorly vascularized area. The patient's immunocompromised state following chemotherapy and the inadequate blood supply within the rapidly enlarging lymph node likely contributed to the abscess formation. Mediastinal abscess formation following EUS-TA for lymphadenopathy is rare, and current guidelines do not recommend prophylactic antibiotics. However, as demonstrated in this case, endoscopists may encounter this complication when multiple risk factors are present.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 4","pages":"201-207"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analyzing Occupational Factors Impacting Air Quality in Traditional Cafes of Tehran, Iran: A Study on PM2.5, PM10, and CO₂ Levels. 分析影响伊朗德黑兰传统咖啡馆空气质量的职业因素：PM2.5， PM10和CO2水平的研究

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.153

Mehdi Ahmadian, Rasoul Yarahmadi, Masoud Salehi, Narges Moghadasi, Azadeh Ashtarinezhad

{"title":"Analyzing Occupational Factors Impacting Air Quality in Traditional Cafes of Tehran, Iran: A Study on PM2.5, PM10, and CO2 Levels.","authors":"Mehdi Ahmadian, Rasoul Yarahmadi, Masoud Salehi, Narges Moghadasi, Azadeh Ashtarinezhad","doi":"10.7888/juoeh.47.153","DOIUrl":"https://doi.org/10.7888/juoeh.47.153","url":null,"abstract":"Traditional cafes are indoor spaces with many suspended particles and toxic compounds in the air. This study aimed to investigate the air quality in terms of indoor and outdoor suspended particles of PM2.5 and PM10, and CO2 in traditional cafes in Tehran. This descriptive study was conducted in 2019-2020 on 100 traditional cafes. The concentration of PM10 and PM2.5 in these cafes' indoor and outdoor air was measured using a Particle Mass Counter, and the concentration of CO2 was measured by 535-TESTO (Testo SE & Co. KGaA, Lenzkirch). The data was analyzed using SPSS.22 (IBM, NY). The trend of changes in the concentration of suspended particles of PM10 and PM2.5 in hookah supply places in Tehran showed that teahouses had the highest concentrations of those particles compared to other studied places, i.e., traditional restaurants, hookah cafes, and traditional coffeehouses. The average concentrations of PM10 and PM2.5 inside the coffeehouses were higher than the threshold limits of the World Health Organization (WHO) guidelines for long-term effects. The long-term presence of these harmful compounds in the indoor air of traditional cafes can cause chronic exposure to their staff and adversely affect their health.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 4","pages":"153-169"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics. 48XXYY综合征的延迟诊断：一个强调g带细胞遗传学作用的病例报告。

Journal of UOEH Pub Date : 2025-01-01 DOI: 10.7888/juoeh.47.209

Junpei Shibahara, Tomofumi Fukuda, Ryota Igarashi, Masahiro Ishii, Reiji Fukano

{"title":"Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.","authors":"Junpei Shibahara, Tomofumi Fukuda, Ryota Igarashi, Masahiro Ishii, Reiji Fukano","doi":"10.7888/juoeh.47.209","DOIUrl":"10.7888/juoeh.47.209","url":null,"abstract":"A rare variant of Klinefelter syndrome, 48XXYY syndrome presents with a wide range of clinical features, including tall stature, intellectual disability, skeletal anomalies, and autism spectrum disorder. We report a male patient with psychomotor developmental delay, progressive genu valgum, dental anomalies, and hypergonadotropic hypogonadism. He was referred to our center at 2 years and 7 months of age, but a definitive diagnosis was not made until he was 16 years old. Although Prader-Willi syndrome was initially suspected, it was ruled out, and he was provisionally diagnosed with cerebral palsy. At 14 years of age, he was re-referred for worsening gait and behavioral issues. Whole-exome sequencing revealed no causative variants, but chromosomal microarray analysis detected gains in the X and Y chromosomes. Conventional G-banding, not performed during the initial workup, later confirmed a 48XXYY karyotype. Laboratory findings supported the diagnosis of hypergonadotropic hypogonadism. This case illustrates the limitations of next-generation sequencing in detecting chromosomal aneuploidies and highlights the diagnostic value of traditional cytogenetic methods. Early identification may enable timely endocrine therapy, educational interventions, and psychosocial support, potentially improving developmental and behavioral outcomes. A stepwise diagnostic approach, beginning with G-banding analysis in patients with unexplained developmental delay and dysmorphic features, remains essential to avoid delayed diagnosis and to optimize patient care.","PeriodicalId":17570,"journal":{"name":"Journal of UOEH","volume":"47 4","pages":"209-214"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145648911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0