Molecular diagnosis of neurological disorders in India

The last decade has seen remarkable advances in sequencing the human genes. There are more genes expressed in the brain than any other organ. The knowledge regarding the genome has led to tremendous progress in molecular characterization of the genes responsible for neurological disorders. The present review covers the molecular diagnosis of Duchenne muscular dystrophy, spinal muscular atrophy, and fragile X syndrome. These are three neurologic disorders common in India for which facilities of molecular diagnosis are currently available in the country. As a result of funding by the Department of Biotechnology of the Government of India, a number of molecular diagnostic centers are being established. It is hoped that molecular diagnosis of many more neurological disorders will soon become available in India.     

Advocacy in nursing – perceptions of practising nurses

• ? This paper reports on a qualitative study which examined the interpretation of patient advocacy by practising nurses.
• ? Focus group interviews, which allowed respondents to recount and share their particular ‘stories’ of patient advocacy, were used to collect data.
• ? Results indicate that a triadic model of advocacy predominated which involved the nurse in a conflict/potential conflict situation. The patient's requests, the patient's fear, the patient's vulnerability or threats to the patient's human rights provoked an advocacy response in the perceptive nurse. The nurse was sustained in the role through patient recognition, the nurse–patient relationship, emotional strength, moral justification and knowledge/expertise legitimacy.
• ? The nurse used direct and indirect means to protect the patient against incompetent/inappropriate practice and/or represent patient/family choice, the advocacy activity resulting in positive or negative outcomes.
• ? In conclusion it is argued that if the triadic conflict model of advocacy outlined by this research is to be sustained by practising nurses, the potential risks involved should be recognized. Professionalization of the role may be the only way forward if the ethical code (United Kingdom Central Council, 1992) continues to make patient advocacy a mandatory activity for the professional nurse.

     

Assessing the Process of Clinical Problem Solving

This article describes a technique for the assessment of medical performances based on the sequence of questions (tactic) that physicians may ask in order to diagnose, treat or follow up a patient. The technique considers changes in the amount of information requested depending on: a) levels of medical experience, b) medical specialties, c) cultural environment, and d) individual diagnostic performance evaluated using different norms. The change in the information value (bits) of a given question depending on its ordinal placement in the tactic is discussed. The obtained results show that surgeons and clinicians request similar information but organize the diagnostic process differently, suggesting the possibility of applying the technique for early detection of specific vocations. The importance of the variable order is of crucial interest throughout all the described results. The obtained findings may serve to train medical students. This revised version was published online in July 2006 with corrections to the Cover Date.     

Important aspects of nursing care in surgical wards as expressed by nurses

The aim of this study was to find out clinical nurses' perceptions of important aspects of nursing care that might have an impact on quality of care in surgical wards. A qualitative approach using focus group interviews was used. The data analysis revealed 15 categories of important aspects of care which could be condensed into two dimensions, here called 'prerequisites' (i.e., staffing, routines and attitudes) and 'elements of performance' (i.e., detecting and acting on signs and symptoms and acting on behalf of the patients). These aspects could be a starting point for developing quality indicators. Carper's four fundamental patterns of knowing were used to make a theoretical interpretation, and three of them were identified.     

Practical approach to recurrent respiratory infections

Respiratory diseases are a major cause of morbidity and mortality in developing countries. Recurrent respiratory infections in children pose a great challenge to the pediatrician where he has to exercise his clinical acumen and methodical, approach, for correct diagnosis and treatment. It is a fact that children should suffer 7 to 8 upper respiratory infections per year until they are 5 years of age when their immune status reaches adult level. In this situation, it is essential to find out whether the frequencies are abnormal. Whenever a child has the following, problems, then only it needs to be investigated.—(a) repeated bacterial pneumonias; (b) a child less than 3 months old having repeated respiratory infections; (c) a child of 9 months old without a history of exposure infections; (d) infections, complicating into bronchiectasis and; (e) in a child where there is no history of allergy or asthma. Once the problem is established as a true recurrent respiratory infection, the clinician should pose questions—whether it is chronic, acute or recurrent, to find out the site of pathology, seriousness of the problem, response to previous medications, to establish the possible diagnosis which fall into six categories—congenital anamolies, aspiration syndrome, genital disorders, immunological, diseases, immune deficiency disorders and allergic diseases. The author discusses quoting some examples for various categories avoiding non pulmonary causes for recurrent respiratory infections in children.     

The diluting effect of medical work groups on feedback efficacy in changing physician's practice

Feedback intervention has been advocated as a successful method to modify the way that physicians practice medicine. However, most studies concerned with modifying physician profiles have focused on interns and residents. The results presented here concern regular staff and therefore provide a better basis for generalization. Over a 2.5-year period, we analyzed the use of clinical resoucces by physicians practicing in four medical specialties in two hospitals. Hierarchical multiple regression models were used to control case mix in order to identify the specific effects attributable to feedback. The information failed to modify the physicians' practice profiles. Our results suggest that this failure is related to the organization of inpatient medical practice as a group effort. This mode of practice has a negative effect on feedback efficacy. First, it weakens one of the main feedback mechanisms, that is personal identification with the data. Second, it probably generates mutual adjustment among physicians, thus eliminating practice variations at the source.     

Physicians and death: Comments and behaviour of 605 doctors in the north-east of Italy

The aim of this study was to determine the influence of socio-demographic and professional factors on physicians' attitudes to the terminally ill. Between May 1992 and May 1993, a survey was conducted in the province of Pordenone (north-east, Italy) in order to analyse a number of specific issues, such as emotional involvement, the need for aggressive treatments and the communication of diagnosis and prognosis. After obtaining a list of board-certified physicians from the Medical Association office in Pordenone, a modification of the cancer questionnaire of Haley and Blanchard (QSPT) was mailed to 916 doctors. Of these, 605 (60%; 487 male, 118 female; mean age 41 ± 11 SD) returned the completed questionnaire. Within the group of responders, we identified three main subgroups, according to their type of activity: general practitioners (175, 29%), hospital doctors (235, 39%) and other doctors (195, 32%). In age, sex and activity, the only significant difference between responders and non-responders was age (mean age 41 and 43 years respeetively). Most of the responders (77%) stated that they were able to deal with the terminally ill patient and his/her needs; 44%, however, admitted that patients' anxiety is sometimes unbearable. For the vast majority of the doctors polled (91%), providing a comfortable environment for an incurable patient was more important than pursuing aggressive treatment, but only 44% were convinced of the uselessness of aggressive care. To the question on whether to disclose information about imminent death to allow patients to prepare spiritually, 37% answered No, 38% Yes, and 25% were uncertain. Almost all responders (95%), however, believed in the beneficial effect of hope on the terminally ill. Ourresults suggest that doctors' professional and, most of all, sociodemographic and cultural factors determine the relationship with the patient on both the emotional and the clinical decision-making levels.     

乳腺病变1213例冷冻切片诊断分析

目的：评价冷冻切片诊断在乳腺变诊断中的准确的。方法：对本院1995年-1999年间1213例乳腺冷冻切片诊断病例进行回顾性分析。结果：在本院乳腺病变诊断中,冷冻切片诊断已广泛施行,占手术病例冷冻切片总数的52.9%;对1213例乳腺病变的冷冻切片与石蜡切片进行对比。冷冻切片确诊率为97.69%（其中完全符合率为95.47%,基本符合率为2.22%),仅28例冷冻切片未确诊（2.30%),仅1例冷冻切片误诊为假阴性（0.082%)。在1213例乳腺病变中,良恶性病变之比为5.25:1。本组统计结果与国内外同类资料相近,对影响乳腺病变冷冻切片诊断的因素,进行了分析讨论。结论：冷冻切片诊断是可靠的和可信的乳腺病变诊断手段之一。     

Photodynamic diagnosis of breast tumours after oral application of aminolevulinic acid

Photodynamic diagnosis is of increasing interest for diagnosis in oncology. It is based on a more intense incorporation of a fluorescent dye in tumours compared to normal tissue. As a feasibility study we investigated the effectiveness of oral application of 5-aminolevulinic acid for photodynamic diagnosis of human primary mammary tumours. The study included 16 patients with palpable breast tumours. Aminolevulinic acid was administered at a concentration of 40 mg kg(-1)bodyweight 150-420 min prior to tumourectomy. Intraoperatively blue light (405 nm) was applied to the operation site. Sections of the excised tumour and some lymph nodes were prepared and analysed with a fluorescent microscope. All primary mammary tumour tissues showed significantly higher fluorescence intensity than surrounding normal mammary tissue. Fluorescence of the mammary tumours could also be discriminated macroscopically and intraoperatively. Fluorescence intensity in nonmetastatic lymph node tissue was higher in 2 out of 3 patients than in primary tumour tissue. By photodynamic diagnosis using aminolevulinic acid we were able to reliably distinguish primary mammary tumours from normal mammary tissue microscopically and macroscopically in all our patients. We suggest that photodynamic diagnosis with aminolevulinic acid for breast tumours should be further investigated and developed for intraoperative use and may well be a simple tool for better intraoperative diagnosis and recognition of tumour margins. We hypothesize that lymph node metastasis of breast tumours will not be detectable by this method.     

33例主动脉瘤或夹层的临床表现与诊断分析

目的 :探讨主动脉瘤或夹层的临床特征与诊断依据。方法 :分组分析患者的临床症状、体征、影像学结果及误诊情况。结果 :主动脉瘤或夹层发作时 95 .0 %有疼痛 ,胸主动脉瘤或夹层 80 .0 %有心包或胸腔积液 ,升主动脉瘤 40 .0 %有主动脉瓣关闭不全 ,腹主动脉瘤 80 .0 %触及搏动包块。 MRI,CT检查主动脉瘤或夹层阳性率 10 0 % ,经胸心超检查升主动脉瘤及 stanford A型夹层阳性率 86 .7% ,心超或腹部 B超检查腹主动脉瘤阳性率 6 6 .7% ,胸片提示 6 2 .5 %胸主动脉瘤纵隔增宽。急性发作患者误诊率 6 5 .0 %。结论 :主动脉瘤或夹层急性发作时疼痛、心包或胸腔积液常见。腹部搏动包块及影像学阳性结果是诊断的特征性依据。MRI,CT阳性检出率极高。