Virilism as a late manifestation in the Bardet-Biedl syndrome

The second case of virilism as a late manifestation of Bardet-Biedl syndrome (BBS) is described, with endocrine and histological evaluation. Both cases manifested ovulatory cycles and developed virilism in adulthood. Elevated plasma testosterone and 17-OH-progesterone were not suppressed by dexamethasone but were suppressed by medroxyprogesterone acetate. Peripheral and ovarian venous blood obtained at the time of surgery demonstrated a marked gradient for testosterone in both ovaries and for progesterone in the ovary bearing the corpus luteum. Histological evaluation of the ovaries demonstrated bilateral ovarian stromal hyperplasia with focal hyperthecosis. Bilateral ovariectomy resulted in complete correction of the endocrine abnormality, although the established hirsutism remains a mark of previous androgen excess.     

CLINICO-PATHOLOGIC CONFERENCE: 12-YEAR-OLD GIRL WITH FATIGUE, ANEMIA, WEIGHT LOSS, ABDOMINAL DISTENTION, AND OCCASIONAL NAUSEA AND VOMITING

A clinicopathologic case is presented. The patient was a 12-year-old white girl with a history of fatigue and dizziness, occasional nausea and vomiting, and anemia, who showed abdominal distention, especially in the epigastrium. An epigastric mass was palpable. Gastroscopy was done, and surgery followed. Pertinent laboratory findings are presented, and clinical discussion follows. The pathology is then presented and discussed.     

Social work, general practice and evidence-based policy in the collaborative care of older people: current problems and future possibilities

While collaborative (or joint) working between social services and primary healthcare continues to rise up the policy agenda, current policy is not based on sound evidence of benefit to either patients or the wider community. Both sets of practitioners report benefits for their own work from adopting new arrangements for collaboration. The underlying assumption behind much of this activity is that a greater degree of integration provides benefits to both users and their carers, a perspective that at times obscures the issue of resource availability, especially in the form of practical community services such as district nursing and home help. At the present time there is insufficient evidence to demonstrate that formal arrangements for collaborative working (CW) are better than those forged informally between committed individuals or teams. Furthermore, arrangements for CW have not hitherto been widely evaluated in systematic studies with a comparative design and focus on outcomes for users and carers rather than on processes. In this paper we propose a number of process measures for future evaluation of CW: (1) study populations must be comparable; (2) details of how services are actually delivered must be obtained and colocation should not be assumed to mean collaboration; (3) care packages in areas of comparable resources should be examined; (4) both destinational outcomes and user‐defined evaluations of benefit should be considered; (5) possible disadvantages of integrated care also need to be actively considered; (6) evaluations should include an economic analysis. Those implementing new policies in Primary Care Trusts have, at present, little sound evidence to guide them in their innovative work. However, they should take the opportunity to rigorously test the advantages and disadvantages of collaboration.     

General practitioners' knowledge, confidence and attitudes in the diagnosis and management of dementia

OBJECTIVE: To measure general practitioners' knowledge of, confidence with and attitudes to the diagnosis and management of dementia in primary care. SETTING: 20 general practices of varying size and prior research experience in Central Scotland, and 16 similarly varied practices in north London. Participants: 127 general practitioners who had volunteered to join a randomised controlled trial of educational interventions about dementia diagnosis and management. METHODS: Self-completion questionnaires covering knowledge, confidence and attitudes were retrieved from practitioners prior to the educational interventions. RESULTS: General practitioners' knowledge of dementia diagnosis and management is good, but poor awareness of its epidemiology leads to an over-estimate of caseload. Knowledge of local diagnostic and support services is less good, and one third of general practitioners expressed limited confidence in their diagnostic skills, whilst two-thirds lacked confidence in management of behaviour and other problems in dementia. The main difficulties identified by general practitioners were talking with patients about the diagnosis, responding to behaviour problems and coordinating support services. General practitioners perceived lack of time and lack of social services support as the major obstacles to good quality care more often than they identified their own unfamiliarity with current management or with local resources. Attitudes to the disclosure of the diagnosis, and to the potential for improving the quality of life of patients and carers varied, but a third of general practitioners believed that dementia care is within a specialist's domain, not that of general practice. More experienced and male general practitioners were more pessimistic about dementia care, as were general practitioners with lower knowledge about dementia. Those reporting greater difficulty with dementia diagnosis and management and those with lower knowledge scores were also less likely to express attitudes endorsing open communication with patient and carer. CONCLUSION: Educational support for general practitioners should concentrate on epidemiological knowledge, disclosure of the diagnosis and management of behaviour problems in dementia. The availability and profile of support services, particularly social care, need to be enhanced, if earlier diagnosis is to be pursued as a policy objective in primary care.     

Patient reported experiences of CT guided lung biopsy: a prospective cohort study

Background

CT guided lung biopsy is a commonly performed procedure to obtain tissue for a histological diagnosis in cases of suspected lung cancer.

Methods

This is a prospective cohort study to obtain information directly from patients about their experiences of the biopsy procedure, thus obtaining a more accurate picture of complications compared with previously performed retrospective reviews. Patients participated in a post-procedure telephone interview and information was gathered about any procedural complications and personal experiences. We also compared the patient reported complications with those obtained from a retrospective review of hospital databases, analogous to previously performed retrospective studies.

Results

In our patient group, reported procedural complication rates were 10% pneumothorax rate (4% requiring a chest drain) and 10% haemoptysis. Post-procedural pain and shortness of breath showed positive correlation, with one patient experiencing prolonged pain. No statistical difference was found between the patient reported complication rates and those obtained from retrospective review of the hospital database.

Conclusions

Our study demonstrates CT guided lung biopsy is a safe procedure and is generally well tolerated. Some patients may experience significant and lasting pain and therefore should be counselled about this pre-procedure.