Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

BACKGROUND: Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations. CASE PRESENTATION: Hepatosplenomegaly, bone crisis and fractures occurred at early childhood, and splenectomy was performed at the age of 5. Exophthalmos with increase in retrobulbar space was noted when the patient was 30. Cerezyme infusion started at the age of 32; but unfortunately, pulmonary arteriovenous malformation with dyspnea and hypoxemia was found two years later. Gene analysis revealed V375L/L444P mutations in the β-glucocerebrosidase gene. CONCLUSION: Although both eye and lung diseases have been associated with Gaucher disease, this is the first reported demonstration of exophthalmos and pulmonary arteriovenous malformation in the same patient. This case may therefore present an extremely severe and unusual form of type I Gaucher disease

Phenotypes of adults with congenital heart disease around the globe: a cluster analysis

Objective To derive cluster analysis-based groupings for adults with congenital heart disease (ACHD) when it comes to perceived health, psychological functioning, health behaviours and quality of life (QoL). Methods This study was part of a larger worldwide multicentre study called APPROACH-IS; a cross sectional study which recruited 4028 patients (2013–2015) from 15 participating countries. A hierarchical cluster analysis was performed using Ward's method in order to group patients with similar psychological characteristics, which were defined by taking into consideration the scores of the following tests: Sense Of Coherence, Health Behavior Scale (physical exercise score), Hospital Anxiety Depression Scale, Illness Perception Questionnaire, Satisfaction with Life Scale and the Visual Analogue Scale scores of the EQ-5D perceived health scale and a linear analogue scale (0–100) measuring QoL. Results 3768 patients with complete data were divided into 3 clusters. The first and second clusters represented 89.6% of patients in the analysis who reported a good health perception, QoL, psychological functioning and the greatest amount of exercise. Patients in the third cluster reported substantially lower scores in all PROs. This cluster was characterised by a significantly higher proportion of females, a higher average age the lowest education level, more complex forms of congenital heart disease and more medical comorbidities. Conclusions This study suggests that certain demographic and clinical characteristics may be linked to less favourable health perception, quality of life, psychological functioning, and health behaviours in ACHD. This information may be used to improve psychosocial screening and the timely provision of psychosocial care

A Study of Resource Based Relative Value for Pediatric Cardiology

健保局已開始研議診療項目的資源基礎相對值(RBRVS)，日後將相對值轉換的金額作為給付標準，診療項目的相對值＝醫師工作投入之相對值＋執業耗用成本之相對值＋醫療執業保險之相對值。本研究的目的在於探討兒童心臟醫療工作的資源基礎相對值應如何訂定，與成人心臟醫療的給付比較，加成應該是多少? 以兒童的心導管檢查及攝影的診療項目來作研究，探討： 一、新生兒至成年不同年齡層，不同病情複雜程度在兒童與成人耗用時間之差異。 二、以作業基礎成本制進行心導管檢查及攝影之成本分析，比較不同年齡層、病情複雜或單純對耗用成本之影響，並與健保局公佈第二版相對值的給付差異。 三、以問卷方式調查國內的小兒心臟科醫師，二十一種常用的診療項目，不同年齡病人所耗用時間、投入精力及加成的看法、對健保相對值之建議。 得到如下的結果： 一、病童年齡愈輕，尤其是6個月以下的嬰兒其檢查耗用時間愈長，若病情複雜所耗時間會愈多。 二、以作業基礎成本制算出的成本以0.5歲以下且病情複雜，耗用成本最高，給付金額與耗用成本的比值也在40%以下。 三、問卷調查的結果普遍認為1.兒童加成項目應擴大2.加成額度不足3.相對值與耗用醫師時間應等比率增加4.健保的相對值對兒童加成不足以及缺少精確計算耗用成本，且沒有考量醫療執業保險的支出。 由客觀的測定不同年齡層病人心導管耗用時間，以及作業基礎成本制分析，並以問卷調查結果佐證，兒童心臟醫療耗用的成本比成人高出許多，給付明顯不足，複雜性心臟病成本比簡單性心臟病成本高，若導入相對值時應考慮年齡與疾病複雜程度給予一個修正值。The national insurance bureau is developing resource based relative value scale (RBRVS) as a reimbursement system for medical service in Taiwan. The relative value scale (RVS) is calculated as following: RVS = RVUw+RVUPE+ RVUmalp. Then RVS is converted to amount of money by a conversion factor. The purpose of this study aims to compare the pediatric cardiology work relative value to those of adult cardiology. The procedure time of cardiac catheterization and angiography in children and infants were measured in patients admitted to this hospital. The costs of the above procedures were also calculated using activity-based costing (ABC). The reimbursement for the above procedure from the national insurance bureau was used to compared the costs of the procedure in patients with different ages and different complexity. Questionnares regarding the procedure time and relative value scale in 21 current procedure terminologies in children were surveyed among pediatric cardiologists. The results of the studies showed the mean procedure time of cardiac catheterization and angiography in infants were significantly longer than that in older children and adults. The more complexity of the heart disease, the longer procedure time will be. The cost of the procedure incurred is inversely related to mean age of the patients and is positively related to complexity of heart disease. The ratio of reimbursement to cost is far below 40%, if the diagnosis is complex heart disease. The results of guestionnare are similar to this study and could be used to support the results of the current study. All participants agreed that the relative value for pediatric cardiology work is significantly higher than those of abult cardiology. The RBRVS which will be implemented in Taiwan should be carefully reevaluated since there is no malpractice insurance RVS and the reimbursements for pediatric cardiology are far below the costs. Therefore, it is concluded that age and complexity in diagnosis should be used as a modifier in the calculation of RVS, particulary a younger age is frequently associated with more difficulties in procedures. The costs estimated with ABC are significantly higher than reimbursements.第一章 緒　論 1 第一節 研究動機與背景 1 第二節 研究目的 2 第三節 論文架構 2 第二章 文獻及歷史回顧 4 第一節 兒童相關醫療相對於成人醫療成本與給付差異 4 第二節 兒童相關醫療之現狀 5 第三節 RBRVS之發展過程 7 第三章 研究方法 10 第一節 依據作業基礎成本制，分析作業流程 11 第二節 調查心導管檢查及攝影在不同年齡層耗費時間 12 第三節 分析心臟檢查及治療的給付之是否合理 13 第四節 以問卷調查方式，瞭解該科別醫生主觀認定之 資源耗用情形 14 第四章 分析及回函結果 16 第一節 依據作業基礎成本制分析作業流程 16 第二節 心導管檢查及攝影在不同年齡層耗費時間與 RBRVS給付的計算 22 第三節 估計心臟檢查及治療的給付之合理加成比率 28 第四節 以問卷調查方式，瞭解該該科別醫生主觀認定之 資源耗用情形 33 第五章 研究結果與建議 38 第一節 研究結果彙總 38 第二節 研究限制 41 第三節 心得與建議 42 第四節 再探RBRVS的給付制度 45 參考書目 48 附錄 5