The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p < 0.001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects.     

The relationship between exposure duration,carboxyhemoglobin, blood glucose,pyruvate and lactate and the severity of intoxication in 39 cases of acute carbon monoxide poisoning in man

The relationship between exposure duration, COHb, blood glucose, pyruvate and lactate and the severity of intoxication was investigated in a group of 39 cases of acute CO poisoning treated in the Clinical Toxicology Center in ód, Poland.On the basis of clinical criteria the patients were classified into cases of mild, moderate, severe and very severe CO poisoning. COHb and carbohydrate metabolites were estimated in venous blood taken immediately after admission of the patient to hospital prior to treatment.The severity of intoxication did not correlate with blood COHb; variation in exposure duration seems to be responsible for this phenomenon. Severe and very severe poisonings were associated with longer exposures and were accompanied by a markedly higher blood lactate level, compared to mild and moderate cases. Blood pyruvate depended less than lactate on the severity of intoxication. Blood glucose depended neither on exposure duration nor on the severity of intoxication.Among the carbohydrate metabolic parameters studied, blood lactate determination can be helpful in the evaluation of the severity of CO poisoning in man.     

联合检测NSE、S100B、hs-CRP及NIHSS评分对急性脑梗死患者病情严重程度的评估价值

目的探讨联合检测神经元特异性烯醇化酶(NSE)、 S100B、超敏C-反应蛋白(hs-CRP)及美国国立卫生研究院卒中量表(NIHSS)评分对急性脑梗死患者病情严重程度的评估价值。方法选取我院2019年1月至2020年3月收治的急性脑梗死患者80例,依据改良Rankin量表(mRS)评分将其分为重度组(mRS评分≥3分,n=36)及轻度组(mRS评分<3分,n=44);另选取同期在我院行健康体检的40例患者作为健康组。比较三组的NSE、 S100B、 hs-CRP及NIHSS评分。结果重度组的NSE、 S100B、 hs-CRP、 NIHSS评分均高于轻度组及健康组(P <0.05);Pearson分析显示,NSE、 S100B、 hs-CRP及NIHSS评分与急性脑梗死病情严重程度呈正相关(r>0, P <0.05)。结论 NSE、 S100B、 hs-CRP及NIHSS评分与急性脑梗死患者病情严重程度呈正相关,联合检测具有客观性。     

我国医疗质量安全不良事件分类的思考

患者安全问题已经成为世界各国医疗质量管理关注的焦点,从国家层面对医疗质量安全不良事件进行统一定义和分类具有重要意义。通过总结世界卫生组织、美国、英国以及我国目前不良事件分类及严重程度分级情况,结合我国相关上报数据,分析存在问题,建议国家及各级卫生行政部门发挥引导推动作用,医疗机构利用现有国家医疗质量安全相关平台,参考借鉴相关分类,开展同质化医疗质量安全管理工作。     

血清胆红素与冠脉病变程度及血脂的相关性分析

目的分析血清胆红素与冠脉病变程度及血脂的关系。方法对冠状动脉造影术确诊的冠心病者和非冠心病者进行病例-对照研究。结果冠心病组血清胆红素水平低于非冠心病组,差异有显著性(P＜0.05)。多元逐步回归分析血清直接胆红素进入回归方程,提示血清直接胆红素与冠脉病变程度呈独立负相关,其相关强度与甘油三脂(TG)和空腹血糖(FBS)相似。血清胆红素与血脂直线相关分析提示血清胆红素与甘油三脂、总胆固醇(TCHO)和低密度脂蛋白胆固醇(LDL-C)呈显著负相关。结论血清直接胆红素水平与冠脉病变程度呈独立负相关,低血清胆红素是冠状动脉粥样硬化的危险因素,血清胆红素与甘油三脂、总胆固醇和低密度脂蛋白胆固醇呈负相关。     

Need for Testing and Supplementation of Vitamin D3 After Release of COVID-19 Lockdown in Patients with Increased Musculoskeletal Pain

AimsTo evaluate vitamin D3 levels in patients who presented with increased musculo-skeletal pain after release of lockdown period when compared to pre-lockdown status.IntroductionDuring this COVID pandemic, many countries have implemented lockdown measures and people have to work from home and many students and workers have to restrict themselves to home. During this period, their outdoor activities were limited. After the partial release of this lockdown many of them started to have some kind of physical activity and started experiencing body pains. We evaluated such patients for vitamin D3 levels and symptoms of fibromyalgia.MethodsThis is a retrospective analysis of patients from age group 18–60 presented to outpatient department or on telephonic consultation after partial release of lockdown. All patients who had mild back ache before lockdown and had symptoms exaggerated during this lockdown release were included. All patients were investigated for vitamin D3, PTH, thyroid profile, liver functional and kidney functional tests.ResultsOut of 120 patients presented to us in a period of 3 months, 31 patients had increased symptoms when compared to pre-lockdown status. 20 out of 31 patients had low vitamin D3 levels. 14 patients also developed symptoms of fibromyalgia.ConclusionThere might be many reasons for increased pain during lockdown, but we focussed specially only on vitamin D3 because of its association with increased symptoms of COVID-19. This is a gentle reminder to test for vitamin D3 levels and supplement if found deficient.Supplementary InformationThe online version contains supplementary material available at 10.1007/s43465-021-00376-8.     

孕妇外周血NKT细胞水平与妊娠期肝内胆汁淤积症发病及病情关系

目的:探究孕妇外周血自然杀伤T(NTK)细胞水平与妊娠期肝内胆汁淤积症(ICP)发病及病情严重程度相关性。方法:选择2016年3月1日-2018年3月1日本院就诊的ICP患者52例(ICP患者组),根据ICP严重程度分为轻度ICP组(n=28)和重度ICP组(n=24),同时随机选择孕周相当的健康产前检查孕妇52例(健康孕妇组),比较各组外周血单个核细胞(PBMC)中NKT细胞水平,分析NKT细胞水平与ICP发生发展相关性。结果:ICP患者组外周血PBMC中NKT细胞含量高于健康孕妇组(P<0.05)。对ICP患者组和健康孕妇组外周血PBMC给予不同刺激物培养后,均显示出NKT细胞含量在正常组与空白组无差异(P>0.05),而在植物血凝素(PHA)组、ICP组、正常组依次降低(P<0.05)。重度ICP组外周血PBMC中NKT细胞含量高于轻度ICP组(P<0.05),NKT细胞含量与ICP病情严重程度呈正相关关系(P<0.05)。结论:ICP发生及进展与孕妇外周血NKT细胞水平呈正相关关系,监测NKT细胞水平可为诊断ICP提供新思路。     

Relationship between severity,costs and claims of hospitalized patients using the Severity of Illness Index

The results of the prospective application of Horn's Severity of Illness Index in a teaching hospital during 1987, 1989, and 1990 constitute the basis of the present report. The average overall severity of illness scores for the three years were 1.42 in 1987, 1.65 in 1989, and 1.46 in 1990. Most of the processes evaluated in the three periods showed an overall distribution among severity levels 1 and 2, both overall and when the seven dimensions of the severity of illness index were analyzed. A statistically significant correlation between the overall severity of illness and average length of stay was found for patients in 1989 and 1990. The length of stay differed significantly in the different severity levels. When the four levels of the seven dimensions of the severity of illness index for 1987, 1989, and 1990 were compared, it was observed that figures were not uniformly distributed. There was a statistically significant association between severity of illness for hospital service and pharmacy charges per hospital stay for both 1989 and 1990, as well as a statistically significant inverse relationship between severity of illness and the number of claims per hospital service in both periods of time. Case-mix methods that account for the severity of patients constitute a useful indicator of quality for the management of different hospital services and of the hospital as a whole.