Bioethics for clinicians: 14. Ethics and genetics in medicine

Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives.     

Cost-Effectiveness Analysis of Acupuncture,Counselling and Usual Care in Treating Patients with Depression: The Results of the ACUDep Trial

Background

New evidence on the clinical effectiveness of acupuncture plus usual care (acupuncture) and counselling plus usual care (counselling) for patients with depression suggests the need to investigate the health-related quality of life and costs of these treatments to understand whether they should be considered a good use of limited health resources.

Methods and Findings

The cost-effectiveness analyses are based on the Acupuncture, Counselling or Usual care for Depression (ACUDep) trial results. Statistical analyses demonstrate a difference in mean quality adjusted life years (QALYs) and suggest differences in mean costs which are mainly due to the price of the interventions. Probabilistic sensitivity analysis is used to express decision uncertainty. Acupuncture and counselling are found to have higher mean QALYs and costs than usual care. In the base case analysis acupuncture has an incremental cost-effectiveness ratio (ICER) of £4,560 per additional QALY and is cost-effective with a probability of 0.62 at a cost-effectiveness threshold of £20,000 per QALY. Counselling compared with acupuncture is more effective and more costly with an ICER of £71,757 and a probability of being cost-effective of 0.36. A scenario analysis of counselling versus usual care, excluding acupuncture as a comparator, results in an ICER of £7,935 and a probability of 0.91.

Conclusions

Acupuncture is cost-effective compared with counselling or usual care alone, although the ranking of counselling and acupuncture depends on the relative cost of delivering these interventions. For patients in whom acupuncture is unavailable or perhaps inappropriate, counselling has an ICER less than most cost-effectiveness thresholds. However, further research is needed to determine the most cost-effective treatment pathways for depressed patients when the full range of available interventions is considered.     

Effect of counselling on the psychiatric morbidity associated with mastectomy.

A controlled trial was conducted to determine whether counselling by a specialist nurse prevented the psychiatric morbidity associated with mastectomy and breast cancer. Seventy-five patients were counselled by the nurse and monitored during follow-up, while 77 patients received only the care normally given by the surgical unit. Counselling failed to prevent morbidity, but the nurse''s regular monitoring of the women''s progress led her to recognise and refer 76% of those who needed psychiatric help. Only 15% of the control group whose condition warranted help were recognised and referred. Consequently, 12 to 18 months after mastectomy there was much less psychiatric morbidity in the counselled group (12%) than in the control group (39%). These findings highlight the high degree of psychiatric morbidity in patients who have undergone mastectomy and indicate the need to find ways of reducing this morbidity.     

心可舒片联合盐酸地尔硫卓片治疗老年冠心病心绞痛的临床研究

摘要 目的：探讨心可舒片联合盐酸地尔硫卓片治疗老年冠心病心绞痛的临床疗效。方法：按照随机数字表法将湖北民族大学附属民大医院和武汉市江夏区第一人民医院2019年4月-2021年9月间收治的98例老年冠心病心绞痛患者分为对照组（盐酸地尔硫卓片治疗,n=49）和观察组（心可舒片联合盐酸地尔硫卓片治疗,n=49）。观察两组疗效、心绞痛缓解情况、血脂指标、血管内皮功能指标、心功能指标、血液流变学指标和不良反应发生情况。结果：观察组的临床总有效率高于对照组（P<0.05）。治疗4周后,与对照组相比,观察组的心绞痛发作频率减少,全血黏度、甘油三酯（TG）、总胆固醇（TC）、低密度脂蛋白胆固醇（LDL-C）、内皮素-1（ET-1）、血浆比黏度、左室收缩末期内径（LVESD）、红细胞压积更低,一氧化氮（NO）、高密度脂蛋白胆固醇（HDL-C）、左心室射血分数（LVEF）、心排血量（CO）更高,心绞痛发作持续时间缩短（P<0.05）。两组不良反应发生率对比无差异（P>0.05）。结论：心可舒片联合盐酸地尔硫卓片治疗老年冠心病心绞痛,可缓解心绞痛症状,改善血液流变学、心功能、血脂和血管内皮功能。     

General practitioner response to elderly patients discharged from hospital.

OBJECTIVE--To determine the effect of discharge information given to general practitioners on their management of newly discharged elderly patients. DESIGN--A random sample of 133 elderly patients who had unplanned readmission to a district general hospital within 28 days of discharge was compared with a matched control sample of patients who were not readmitted. Information was gathered from the hospital, the patients, the carers, and the general practitioners about the information that the hospital had sent the general practitioner and the general practitioners'' response to this information. SETTING--All specialties in a district general hospital. PATIENTS--266 Patients aged over 65 representative in the main demographic indices of the population of elderly patients admitted to hospital. RESULTS--Ten weeks after discharge the doctors had received notice of discharge about 169 of the patients, but fewer than half the discharge notices were received within the first week. General practitioners were dissatisfied with the information in 60 cases. A general practitioner visited 174 of the patients after their discharge from hospital and three quarters of the visits took place within two weeks of the discharge. These visits were more likely to have been initiated by patients or families than by the doctor, and this was not influenced by the doctor receiving notice of the patient''s discharge. Older patients and those who had carers were the most likely to be visited. Nearly half of the carers were dissatisfied with some aspect of general practitioner care, problems with home visiting being the commonest source of complaint. CONCLUSIONS--Hospital communications to general practitioners about the discharge of elderly patients still cause concern, particularly in the time they take to arrive. Written instruction to vulnerable elderly patients asking them to inform their general practitioner of the discharge might be helpful. Carers complained of lack of support, and it is clearly important for someone (either the general practitioner or another health worker) to visit elderly people shortly after their discharge.     

螺内酯联合美托洛尔缓释片治疗老年慢性心力衰竭患者的疗效 及对左室心功能的影响

目的:探究螺内酯联合美托洛尔缓释片治疗老年慢性心力衰竭(CHF)患者的临床疗效,并分析其对左室心功能的影响。方法:选择2012年2月至2015年5月期间我院收治的老年CHF患者87例,将其随机分为研究组和对照组,研究组45例,对照组42例。对照组采用常规药物治疗方式,研究组在对照组基础上采用螺内酯联合美托洛尔缓释片治疗,疗程共12周。对比两组患者的临床疗效及治疗前后的左心室功能变化。结果:研究组患者总有效率为91.11%,对照组为69.05%,组间差异有统计学意义(P0.05);治疗后研究组LVEF高于治疗前,LVEDV、LVESV低于治疗前,且改善程度明显优于对照组,差异均有统计学意义(P0.05)。结论:螺内酯联合美托洛尔缓释片能够显著改善老年CHF患者的左室重构和心脏功能,疗效显著,可在临床上推广使用。     

老年帕金森病患者睡眠障碍的危险因素及其对认知功能、心理状态和衰弱的影响

摘要 目的：探讨老年帕金森病（PD）患者睡眠障碍的危险因素,并观察睡眠障碍对认知功能、心理状态和衰弱的影响。方法：选取2018年3月~2021年9月期间中国人民解放军海军青岛特勤疗养中心收治的91例老年PD患者作为研究对象,根据是否存在睡眠障碍将入选的91例患者分为睡眠障碍组（n=56）及非睡眠障碍组（n=35）。采用蒙特利尔认知评估量表（MoCA）评估所有患者的认知功能状况。采用汉密尔顿焦虑量表（HAMA）、汉密尔顿抑郁量表（HAMD）评价患者焦虑、抑郁情况。采用Tilburg衰弱评估量表评估所有患者的衰弱情况。采用多因素Logistic回归分析探讨老年PD患者睡眠障碍的危险因素,并观察睡眠障碍对认知功能、心理状态和衰弱的影响。结果：睡眠障碍组的视空间与执行功能、语言、命名、延迟回忆、注意、抽象、定向评分及总分均低于非睡眠障碍组（P<0.05）。睡眠障碍组的HAMA、HAMD评分均高于非睡眠障碍组（P<0.05）。睡眠障碍组的心理衰弱、躯体衰弱、社会衰弱评分及总分均高于非睡眠障碍组（P<0.05）。多因素Losgistic回归分析结果显示：HAMA评分偏高、多巴丝肼片等效剂量偏高、HAMD评分偏高、Hcy偏高是老年PD患者睡眠障碍的危险因素（P<0.05）。结论：HAMA评分偏高、Hcy偏高、多巴丝肼片等效剂量偏高、HAMD评分偏高是老年PD患者睡眠障碍的危险因素。同时,睡眠障碍可加重老年PD患者的认知功能障碍和衰弱程度,增加抑郁焦虑情绪。     

Effects of self medication programme on knowledge of drugs and compliance with treatment in elderly patients.

OBJECTIVE--To determine whether a programme of self medication for inpatients improves compliance with treatment and knowledge of their drugs after discharge from hospital. DESIGN--Patients were prospectively recruited from four wards: two with a self medication programme and two acting as controls. Ten days after discharge the patients were visited at home. They were questioned about their drugs, and a tablet count was undertaken. SETTING--The pharmacy department and four medical wards with an interest in elderly patients at a district general hospital, and the patients'' homes. PATIENTS--88 patients discharged to their own homes who were regularly taking one or more drugs. INTERVENTION--A hospital self medication programme in which patients are educated about their medicines and given increasing responsibility for taking them in hospital. MAIN OUTCOME MEASURES--Compliance with and knowledge of the purpose of their medicines 10 days after discharge from hospital. RESULTS--The mean compliance score in patients taking part in the self medication programme was 95% compared with 83% in the control group (difference 12%, 95% confidence interval 4% to 21%; P < 0.02). Of the patients in the self medication group, 90% (38/42) knew the purpose of their drugs compared with 46% (17/37) in the control group (difference 44%, 26% to 63%; P < 0.001). CONCLUSION--A self medication programme is an effective aid for improving compliance with and knowledge of patients'' drugs after discharge.     

An observational study of associations among maternal fluids during parturition, neonatal output, and breastfed newborn weight loss

Background

Counselling human immunodeficiency virus (HIV) positive mothers on safer infant and young child feeding (IYCF) options is an important component of programmes to prevent mother to child transmission of HIV, but the quality of counselling is often inadequate. The aim of this study was to determine the effect the World Health Organization HIV and infant feeding cards on the quality of counselling provided to HIV positive mothers by health workers about safer infant feeding options.

Method

This was a un-blinded cluster-randomized controlled field trial in which 36 primary health facilities in Kafue and Lusaka districts in Zambia were randomized to intervention (IYCF counselling with counselling cards) or non- intervention arm (IYCF counselling without counselling cards). Counselling sessions with 10 HIV positive women attending each facility were observed and exit interviews were conducted by research assistants.

Results

Totals of 180 women in the intervention group and 180 women in the control group were attended to by health care providers and interviewed upon exiting the health facility. The health care providers in the intervention facilities more often discussed the advantages of disclosing their HIV status to a household member (RR = 1.46, 95% CI [1.11, 1.92]); used visual aids in explaining the risk of HIV transmission through breast milk (RR = 4.65, 95% CI [2.28, 9.46]); and discussed the advantages and disadvantages of infant feeding options for HIV positive mothers (all p values < 0.05). The differences also included exploration of the home situation (p < 0.05); involving the partner in the process of choosing a feeding option (RR = 1.38, 95% CI [1.09, 1.75]); and exploring how the mother will manage to feed the baby when she is at work (RR = 2.82, 95% CI [1.70, 4.67]). The clients in the intervention group felt that the provider was more caring and understanding (RR = 1.81, 95% CI [1.19, 2.75]).

Conclusion

The addition of counselling cards to the IYCF counselling session for HIV positive mothers were a valuable aid to counselling and significantly improved the quality of the counselling session.     

El anciano en la unidad de cuidados intensivos

Admission of elderly patients to intensive care units (ICU) is an increasing phenomenon. The severity of the disease causing admission and the basal functional patient's status are conditions more important than age to predict mortality and long term functional outcome. Studies demonstrate that elderly ICU survivors recover after discharge the majority part of their functional capability and perception of quality of life. On the contrary, these patients develop higher number of geriatric syndromes, mainly confusional syndrome.The culture of geriatric comprehensive assessment should be implemented in ICU and especially after discharge. The use of simple and validates scales (Barthel's Index, Lawton's Index and EuroQol-5D…) must be incorporated into the clinical practice. This is a good tool that could be useful for the specialists involved in the usually difficult decision of whether an elderly patient should or not be admitted to an ICU.     

阿德福韦酯片治疗60例老年失代偿期乙肝肝硬化的疗效观察

目的:探讨阿德福韦酯片治疗老年失代偿期乙肝肝硬化的疗效.方法:收集2008年1月～2010年12月我院收治的老年失代偿期乙肝肝硬化患者106例,46例给予常规治疗(对照组),其余60例加用阿德福韦酯片(观察组).比较两组肝功能、Child-Pugh评分、HBV-DNA阴转率及不良反应.结果:观察组总有效率为96.67％(58/60),对照组为78.26％(36/46),差异有统计学意义(P＜0.05);两组治疗后ALT、ALB和TBiL水平及Child-Pugh评分均较治疗前显著改善(P＜0.05),观察组改善显著优于对照组(P＜0.05);观察组HBV-DNA阴转率为56.67％(34/60),明显高于对照组的19.56％(9/46),差异有统计学意义(P＜0.05);观察组未发现与服用阿德福韦酯片相关的不良反应,无死亡病例.结论:阿德福韦酯片治疗老年失代偿期乙肝肝硬化能显著提高疗效,改善肝功能,且安全性高,值得临床推广应用.     

血清5-HT、Obestatin、APRIL与老年脑卒中患者神经功能的相关性及对卒中后抑郁的预测价值

摘要 目的：探讨血清5-羟色胺（5-HT）、肥胖抑制素（Obestatin）、增殖诱导配体（APRIL）与老年脑卒中患者神经功能的相关性及对卒中后抑郁（PSD）的预测价值。方法：选择2019年5月至2022年5月内蒙自治区人民医院收治的老年脑卒中患者120例为研究对象。入院时采集血样本,采用酶联免疫吸附法（ELISA）检测血清5-HT、Obestatin和APRIL水平。患者出院后随访6个月,根据是否发生PSD分为PSD组和非PSD组,比较两组血清5-HT、Obestatin、APRIL水平。采用Pearson相关分析法分析5-HT、Obestatin、APRIL与美国国立卫生研究院卒中量表（NIHSS）的相关性;采用多因素Logistic回归模型分析PSD的影响因素;采用受试者工作特征（ROC）曲线分析血清5-HT、Obestatin联合APRIL对老年脑卒中患者出院后PSD的预测价值。结果：PSD组血清5-HT低于非PSD组（P＜0.05）,血清Obestatin、APRIL和NIHSS评分高于非PSD组（P＜0.05）。血清5-HT与NIHSS评分呈负相关（P＜0.05）;血清Obestatin、APRIL与NIHSS评分呈正相关（P＜0.05）。单因素分析显示,老年脑卒中患者出院后PSD与体质量指数（BMI）、吸烟史、饮酒史有关（P＜0.05）。多因素Logistic回归分析显示,血清Obestatin、APRIL及NIHSS评分升高是脑卒中患者出院后发生PSD的危险因素（P＜0.05）,血清5-HT升高是其保护因素（P＜0.05）。ROC曲线分析结果显示,血清5-HT、Obestatin、APRIL及联合检测对预测PSD的曲线下面积（AUC）分别为0.735（0.483～0.978）、0.765（0.595～0.918）、0.707（0.464～0.954）、0.867（0.742～0.972）,联合检测的预测效能优于各指标单独检测。结论：血清5-HT水平降低、Obestatin、APRIL水平及NIHSS评分升高是老年脑卒中患者出院后发生PSD的独立危险因素,还可导致神经功能损伤,血清5-HT、Obestatin和APRIL可预测老年脑卒中患者出院后PSD,且联合预测价值更高。     

Effects of computer generated reminder charts on patients' compliance with drug regimens.

OBJECTIVE--To investigate whether a reminder chart improved patients'' compliance with their drug regimen after discharge from hospital. DESIGN--Patients were randomly allocated to one of four groups. Two groups received the reminder chart: one also received routine counselling from a nurse and the other received structured counselling from a pharmacist, which included an explanation of the reminder chart. The other two groups received only counseling, either from a nurse or from a pharmacist. Patients were visited about 10 days later: they were questioned about their drug regimen, and their compliance was measured by tablet counting. SETTING--The pharmacy in a district general hospital and patients'' homes. PATIENTS--197 patients being discharged from hospital who were regularly taking two or more drugs. INTERVENTION--An individualised reminder chart, which listed each person''s medicines and when they were to be taken and was automatically generated by a medicine labelling computer. MAIN OUTCOME MEASURES--Patient''s compliance with and knowledge of their drug regimen. MAIN RESULTS--Of the patients who received the reminder chart, 83% (95% confidence interval 74% to 90%) correctly described their dose regimen compared with 47% (37% to 58%) of those without the chart (p < 0.001). The mean compliance score was 86% (81% to 91%) in both groups not given the reminder chart; 91% (87% to 94%) in the group given the chart without an explanation; and 95% (93% to 98%) in the group given the chart and an explanation. A mean compliance score of > 85% was achieved by 63% (53% to 73%) of patients without a reminder chart and by 86% (78% to 93%) of those receiving the chart (p < 0.001). CONCLUSIONS--An automatically generated reminder chart is a practical and cost effective aid to compliance.     

Prospective study of genetic counselling.

A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) for serious genetic disorders. Educational and social background of consultands and their knowledge and understanding of their particular problem were assessed before counselling, and their response was determined immediately afterwards and three months and two years later by an independent observer not concerned in the genetic counselling. The husband''s educational background was particularly important in influencing a couple''s comprehension of counselling. X-linked recessive and chromosomal disorders presented the most difficulties in comprehension. The counsellors'' assessment of comprehension was a good guide to the consultands'' comprehension as assessed at subsequent follow-up. The proportion deterred from having children increased with time and over a third had been sterilised within two years of counselling. It is suggested that follow-up after counselling should be routine, especially when the counsellor suspects that comprehension has not been good, in X-linked recessive and chromosomal disorders, and when the risks of having an affected child are considered to be high.     

心理干预联合氟哌噻吨美利曲辛片对老年高血压伴焦虑抑郁患者血压的影响

目的:研究心理干预联合氟哌噻吨美利曲辛片对老年高血压伴焦虑抑郁患者的血压影响。方法:选取2013年4月到2014年4月某院收治的老年高血压伴焦虑抑郁的患者110例,按照随机数字表法将患者分为研究组和对照组,每组55例,对照组给予常规降压治疗,研究组在对照组的基础上给予心理干预,同时服用氟哌噻吨美利曲辛片,治疗时间均为8周,应用抑郁自评量表(HAMD)和汉密尔顿焦虑自评量表(HAMA)的评分来评价患者的抑郁状态,比较两组降压疗效、HAMD评分、HAMA评分以及不良反应。结果:研究组降压总有效率94.5%(52/55),对照组降压总有效率为67.3%(37/55),两组比较差异具有统计学意义(x2=12.952,P=0.013);研究组治疗后HAMA评分和HAMD评分分别为(10.5±0.6)分、(11.9±1.1)分显著低于治疗前的(20.8±0.4)分、(31.2±0.7)分,与治疗前比较差异具有统计学意义(t=9.923,10.628,P=0.025,0.019),与对照组比较差异具有统计学意义(t=9.823,11.628,P=0.023,0.016);两组不良反应比较差异无统计学意义(x2=5.492,P=0.072)。结论:心理干预联合氟哌噻吨美利曲辛片治疗老年高血压伴焦虑抑郁者具有较好的降压效果,能改善患者焦虑抑郁状态,且无严重不良反应。     

Management of acute stroke in the elderly: follow-up of a controlled trial.

Follow-up of a controlled trial of the management of acute stroke in the elderly showed that the improvement in functional outcome at the time of discharge from hospital that had been achieved through establishing a stroke unit had disappeared by one year. Factors that might have contributed to this included overprotection by the families of patients who had been treated in the stroke unit, who were not permitted to carry out activities of daily living in which they were independent, and the early discharge from medical units of patients whose full rehabilitation potential had not been realised. Prolonging the benefits of short-term gains in functional outcome through the intervention of a stroke unit requires that all the links in the chain of stroke rehabilitation are maintained, including the proper orientation of patients'' families before discharge from hospital.     

鼓室注射类固醇激素治疗中老年突发性耳聋患者的临床疗效观察

目的:探讨鼓室注射类固醇激素治疗中老年突发性耳聋患者的临床疗效。方法:将我院收治的94例中老年突发性耳聋患者按给药方式不同分为鼓室组和静脉组,鼓室组采用鼓室注射类固醇激素治疗,静脉组采用静脉滴注类固醇激素治疗,对比分析两组患者的治疗效果差异。结果:治疗后鼓室组的总有效率为75%,明显高于静脉组的55.26%,两组总有效率比较具有统计学差异(P0.05);鼓室组和静脉组伴发全身疾病的患者总有效率分别为55.56%和36.00%,比较具有显著差异(X2=5.5877,P=0.016)。结论:鼓室注射给药较静脉给药治疗突发性耳聋具有更好的疗效,特别对于伴有糖尿病、高血脂等的中老年患者具有显著优势。     

Cost of counselling women who undergo mastectomy.

The psychiatric morbidity associated with mastectomy and brest cancer was substantially reduced by a specialist nurse who counselled women before and after surgery and monitored their progress. A controlled study was, therefore, carried out to determine what this cost. National Health Service costs were almost wholly covered by savings made because counselled subjects who developed psychiatric problems were recognised and treated much earlier than control patients. Counselled and control subjects suffered considerable financial losses, but these were offset in the counselled group by their relatives'' earlier return to work. Such counselling schemes are necessary and effective and may be implemented at little extra cost.     

硝酸异山梨酯片联合美托洛尔治疗老年冠心病心绞痛的疗效及对IL-18及hs-CRP水平的影响．

目的：观察硝酸异山梨酯片联合美托洛尔治疗老年冠心病心绞痛的临床效果,观察联合用药对患者血浆白介素．18（Inter．1eukin,IL-18）、超敏C反应蛋白（HighsensitivityCreactiveprotein,hs—CRP）的影响。方法：选择本院收治的老年冠心病心绞痛患者84例,随机分为研究组和对照组,各42例,研究组给予硝酸异山梨酯片20mg,3次／d,口服,美托洛尔12．5mg,1次／d,口服;对照组仅给予硝酸异山梨酯片20mg,3次／d,口服,疗程均为28d。观察两组用药后心绞痛改善情况,并观察两组治疗前后血清IL-8、hs-CRP变化。结果：治疗后,研究组总有效率为90．5％;对照组总有效率为69．0％,研究组总有效率明显高于对照组（P〈0．01）。治疗后两组心率、心绞痛发作频率明显降低,持续时间明显缩短（P〈0．05）;研究组心率、心绞痛发作频率明显低于对照组,持续时间也较对照组短（P〈0．05）。治疗前两组血浆IL-18、hs-CRP水平比较无统计学差异（P〉0．05）;治疗后研究组IL．18、hs．CRP水平明显低于对照组（P〈O．05）。结论：硝酸异山梨酯片联合美托洛尔治疗老年冠心病心绞痛能够进一步减轻患者IL．18、hs．CRP水平,对心绞痛治疗效果较单独应用酸异山梨酯片更佳。