Quarterly Journal of Medicine最新文献

The gene that is mutated in Huntington's disease has a polymorphic (CAG)n tract close to the 5' end of its message that is unstable and abnormally expanded in disease chromosomes. Rapid PCR tests that measure the CAG repeat number in this gene will become an important clinical tool. However, this test should be approached with caution, as its specificity and sensitivity have not been absolutely determined. The possibility that one might be able to predict the age of onset from the size of the CAG expansion in cases that have more than 50 repeats has been considered. We have also made a case for retaining the diagnostic option of prenatal exclusion testing.

With an increasingly aged population, the number of patients requiring treatment for cardiovascular diseases will rise. Previous expectations of cardiac surgery in the over-seventies have been poor, with surgery being very much a last resort. We decided to test whether this was appropriate, and to determine whether the priority of surgery affected the outcome. Three hundred and six patients over the age of 70 were operated on in our unit in a 4 1/2-year period, 210 as elective operations and 96 as emergencies. Eighty-nine per cent were in NYHA class III-IV pre-operatively and half had other significant medical problems. Most (46%) underwent coronary artery surgery. The methods used were identical to those used for the younger patients in both operative approach and post-operative management. The overall mortality was 6.9%; 1.9% for elective procedures and 16.7% for emergencies (12.3% when catastrophic pathologies are excluded). However, the morbidity was not significantly different between the two groups and the length of post-operative ventilation and hospital stay were likewise not significantly different. Follow-up of the survivors showed no late deaths, and 87% were in NYHA class I and II. Of the others, 25 have required additional hospital admissions for associated cardiac problems. One required another invasive procedure (a PTCA), but none has required further surgery. The findings of low mortality for elective cardiac surgery in this age group are in agreement with other reports. If early referral prevents emergency surgery, it should be avidly pursued, in view of the improved outcome for elective surgery.(ABSTRACT TRUNCATED AT 250 WORDS)

We studied the link between chronic fatigue syndrome (CFS) and hyperventilation in 31 consecutive attenders at a chronic fatigue clinic (19 females, 12 males) who fulfilled criteria for CFS based on both Oxford and Joint CDC/NIH criteria. All experienced profound fatigue and fatigability associated with minimal exertion, in 66% developing after an infective episode. Alternative causes of fatigue were excluded. Hyperventilation was studied during a 43-min protocol in which end-tidal PCO2 (PETCO2) was measured non-invasively by capnograph or mass spectrometer via a fine catheter taped in a nostril at rest, during and after exercise (10-50 W) and for 10 min during recovery from voluntary overbreathing to approximately 2.7 kPa (20 mmHg). PETCO2 < 4 kPa (30 mmHg) at rest, during or after exercise, or at 5 min after the end of voluntary overbreathing, suggested either hyperventilation or a tendency to hyperventilate. Most patients were able voluntarily to overbreathe, but not all were able to exercise. Twenty-two patients (71%) had no evidence of hyperventilation during any aspect of the test. Only four patients had unequivocal hyperventilation, in one associated with asthma and in three with panic. Only one patient with severe functional disability and agoraphobia had hyperventilation with no other obvious cause. A further five patients had borderline hyperventilation, in which PETCO2 was < 4 kPa (30 mmHg) for no more than 2 min, when we would have expected it to be normal. There was no association between level of functional impairment and degree of hyperventilation. There is only a weak association between hyperventilation and chronic fatigue syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

The 1990 Iran earthquake affected two provinces with a population of 2.3 million, resulting in at least 13,888 deaths and 43,390 injured, and in 33,615 hospitalizations. Overall mortality among hospitalized patients was 0.17%. Acute renal failure (ARF) requiring dialysis support was diagnosed in 156 patients nationwide, with a mortality rate of 14%. Three teaching hospitals of the Tehran University of Medical Sciences admitted 495 patients, with overall mortality of 7.5%. Of these, 30 (6%) required dialysis support, with mortality of 40%, accounting for one-third of all deaths. On admission, patients with ARF were more severely injured, with significantly higher incidence of multiple trauma, peripheral nerve damage, elevated plasma concentrations of muscle enzymes, potassium and phosphate, and abnormal urinalysis. In one of the three hospitals, patients were treated with a standardized hydration protocol coupled with a cautious approach to fasciotomy. The incidence of ARF, mortality associated with ARF, and fasciotomy were lower in this group. Our limited experience suggests that this standardized approach to prevention and treatment of ARF in earthquake victims may be helpful.

We assessed all patients (n = 120) who underwent left ventricular aneurysmectomy as part of a cardiac surgical procedure at the Groby Road Hospital subregional cardiothoracic centre (1980-1990). Of these, 71% had had only one prior myocardial infarction and 84% had symptoms generally associated with aneurysms (congestive cardiac failure, ventricular arrythmias or systemic embolism). The indication for surgery was a combination of angina and aneurysm-related symptoms in 43%, one or more aneurysm-related symptoms in 35%, and angina alone in 22%. The majority of patients (57%) underwent aneurysmectomy and coronary artery bypass grafting, although 35% underwent aneurysmectomy alone. Most (61%) aneurysms were > 6 cm in size, and 75% were located at the apex of the left ventricle. Forty per cent had a mural thrombus, and there was no relationship between prior warfarin use and occurrence of mural thrombus. Overall perioperative mortality was 17% (20 patients), although mortality halved between the first and second halves of the study period. The main reason for perioperative was pump failure. Seventeen patients died late during follow-up (mean 52.5 months), the main cause being further myocardial infarction. Nevertheless, 65% were still alive at 5 years, and 81% and 66% of survivors were still better than pre-operatively at 5 and 8 years, respectively. Post-operative improvement was equally as good in patients who underwent aneurysmectomy alone, or those operated on for aneurysm-related symptoms, as in the whole group. In logistic regression analysis, the only predictor of adverse long-term outcome was the number of previous myocardial infarctions.(ABSTRACT TRUNCATED AT 250 WORDS)

To investigate behaviour in the use of drug prophylaxis against malaria and the risk factors for non-compliance, 507 European or North American travelers returning from endemic areas were studied retrospectively at Berlin in a 11-year period from 1980 to 1990. Compliance was significantly correlated with shorter travel duration: the group with good compliance stayed 37.2 +/- 38.5 days (mean +/- SD) in contrast to 69.8 +/- 93.5 days in the group of patients with no compliance (p = 0.00001). Older patients were significantly more compliant than patients aged < 55 years (20/27 compliant at > 54 years vs. 175/476 at < 55 years; p = 0.0001). Compliance was significantly affected by travel destination (Southern and East African regions; p = 0.0054), age (< or = 15 and > or = 55 years, respectively; p = 0.0001), and reason of travel (package tours; p = 0.0001). CART analysis confirmed logistic regression analysis with respect to age and travel type, and revealed that patients using only one information source were significantly more compliant than those using two or more information sources. Travel agencies were nearly as well informed as Institutes of Tropical Medicine, but family doctors had a significant incidence of giving wrong advice. This study should enable medical personnel dealing with prophylactic advice against malaria to identify patients at high risk for non-compliance, and to educate them more carefully than other travellers regarding antimalarial drug prophylaxis.

Colonic dilatation has been reported as an occasional complication of infectious colitis in single case reports and short series, but no large series has been published. We analysed 19 cases of self-limited colitis complicated by colonic dilatation, with infective agents identified in 14, admitted to a Regional Infectious Diseases Unit. Colonic dilatation, defined as a minimum transverse colonic diameter of 7 cm on plain abdominal X-ray, was associated with approximately 1% of cases of notifiable diarrhoea requiring hospital admission. The clinical course was associated with pyrexia (in 90%), tachycardia (in 90%), hypoalbuminaemia (in 100%), anaemia (in 84%) and reactive thrombocytosis (in 63%). There was a history of antidiarrhoeal agents or opiate analgesia in eighteen patients (95%). Intensive medical management, consisting of intravenous antibiotics, steroids, supplementary nutrition and withdrawal of anti-motility agents, resulted in resolution in 17 patients. Two patients required subtotal colectomy for perforation of the transverse colon, but neither developed severe peritonitis, and both subsequently underwent reversal of ileostomy. With early recognition and close observation of colonic dilatation in patients with acute diarrhoea, most cases can be successfully managed conservatively with preservation of the colon. Surgical intervention should be considered in patients with progressive colonic dilatation despite intensive medical management. There were no clinically useful parameters distinguishing self-limited colitis from inflammatory bowel disease acutely, so initial management should cover both possibilities.

Twenty cases of subacute sclerosing panencephalitis (SSPE) occurring over an 18-year period in Wales are described and used as the basis for a comparison of measles infection, vaccination rates and the incidence of SSPE in England and Wales. Rates of measles infection were higher in Wales in all age groups, and fewer Welsh children were vaccinated, which maintained a high risk of SSPE per case of measles. Following vaccination, there was a more pronounced change in the age distribution of measles infection in Wales than in England, and it is proposed that one contribution to the high frequency of SSPE in the 1980s was the reservoir of measles in unvaccinated 2-4-year-olds, acting as a source of infection for children aged < 2 years, in whom the risk of SSPE following measles is known to be higher than in other groups.