General anaesthesia in sickle-cell disease.

General anaesthesia was administered on 284 occasions to 200 patients with sickle-cell disease at one hospital during July 1958 to June 1978. No intraoperative but six postoperative deaths occurred. The management of anaesthesia may have contributed to two of the postoperative deaths. Clinically uneventful anaesthesia did not appear to provoke severe sickling crises or to be responsible for mortality, but a contribution to postoperative morbidity could not be excluded. A simple, careful anaesthetic technique and selective but not routine blood transfusion appears to be associated with minimal anaesthetic morbidity and mortality in patients with sickle-cell disease.     

Sickle-cell disease in a British urban community.

Seventy cases of sickle-cell disease were identified in the London Borough of Brent from records dating back to 1962. All but three were still alive and, with one exception, were recalled for confirmation of the diagnosis and to provide personal and family histories. The group consisted of 22 individuals with homozygous sickle-cell anaemia (Hb SS), 12 with sickle-cell/beta-thalassaemia double heterozygosity, 34 with sickle-cell/haemoglobin C disease (Hb SC), and two with the combination of haemoglobin S and hereditary persistence of fetal haemoglobin. They were predominantly of West Indian origin, more than half had been born in Britain, and most were aged under 25. The records for 304 patient admissions between 1962 and 1979 were analysed. There were 199 sickle-cell-disease-related admissions, 61 unrelated to sickle-cell disease, and 44 for pregnancy or its complications. Admissions per patient-year averaged less than one, except for children with Hb SS under the age of 5 years, who were admitted more frequently. The commonest reasons for admission were painful crises (74% of all admissions) and the "chest syndrome" (21%). There were four pneumococcal infections, all in children with Hb SS under the age of 8 years; all recovered. Three patients, aged 10, 15, and 50 years, died. The two children with Hb SS died in their sleep without gross evidence of sickling at necropsy. Multiple brain infarcts were found at necropsy in the 50-year-old woman with Hb SC who, having survived nine uneventful pregnancies, succumbed to an infection after cryosurgery to the cervix. Obstetric records were available for 18 term pregnancies in 11 women. Three antenatal sickling crises and three postpartum thromboembolic complications were encountered. There were no maternal or perinatal deaths. Fifteen asymptomatic individuals with sickle-cell disease were diagnosed as a result of routine screening procedures. There are likely to be many such individuals currently undiagnosed in the community. They urgently need identification because of their increased risks from pregnancy, surgery, and infection.     

Sickle-cell Anaemia,Sickle-cell Thalassaemia,Sickle-cell Haemoglobin C Disease,and Asymptomatic Haemoglobin C Thalassaemia in one Ghanaian Family

A Ghanaian family is described in which a sickle-cell haemoglobin C man married to a sickle-cell thalassaemia woman produced 12 children (eight alive). Four children have sickle-cell anaemia, two sickle-cell haemoglobin C disease, one has sickle-cell thalassaemia, and one is asymptomatic haemoglobin C thalassaemia.It is emphasized that the contribution that adult sickle-cell disease patients make, through procreation, to the persistence of the S gene may be greater than is normally supposed, and that this contribution may soon outstrip that made by balanced polymorphism through falciparum malaria. Widespread haemoglobin genotyping in schools leading to genetic counselling is advocated to decrease the incidence of sickle-cell disease.     

ANR Inforare : proposition d’un modèle d’identifiant patient individuel pour les patients drépanocytaires

The main objective of INFORARE project is to organize the gathering, assessment and sharing of medical information between sickle-cell anaemia patient and the health workforce. The method is based on the: evaluation of the sickle-cell anaemia patients’ acceptability of the familial data collection; centralised management of medical files which have been rendered anonymous; proposition of an identification model for sickle-cell anaemia patients and the evaluation of first the feasibility of the identification data collection, second the data linkage quality.ResultsSemi-directive interview method undertaken by LEM permitted to interview 43 patients, six association members, and six health workforce personals regarding acceptability of the familial data collection. The informatics platform ensuring the centralised management of sickle-cell anaemia patients’ medical files has been very appreciated by clinicians. The familial component identification model contains anonymous identification data of patients and their parents. Due to data collection difficulties of 692 included patients, this familial component identification model cannot be implemented in terms of linking sickle-cell anaemia patient data with her/his family data.Discussion and conclusionThe information system model for sickle-cell anaemia disease should be extended to other rare diseases which need to organize the federation and sharing of medical information among patients, the health workforce, and patients’ families. The convivial application contains very useful data for clinical, biological and epidemiological studies, thus facilitates the relationship with other research programmes. Taking into account the familial dimension of the information will increase the potential knowledge extraction and utilization of genetic and multifactorial diseases.     

OPTICAL DIFFRACTION STUDIES OF CRYSTALLINE STRUCTURES IN ELECTRON MICROGRAPHS : II. Crystalline Inclusions in Mitochondria of Human Hepatocytes

Unit cell dimensions of mitochondrial crystals were determined by optical diffraction analysis of electron micrographs of human liver biopsy specimens. Identical unit cells were found in pathologic material obtained from six patients with Wilson's disease, from one patient with sickle-cell hepatitis, and from two normal subjects. These measurements led to the conclusion that the crystals observed in patients and in normal subjects were probably chemically identical. Furthermore, the relatively large size of the unit cell limits the choices for its constituents to phospholipid micelles or to relatively large protein molecules.     

Report of 24 Cases of Myocardial Infarction Treated at Home

During a four-year period in one general practice 50 patients suffered myocardial infarction; 24 were dead before their general practitioner saw them. Of the surviving 26, 2 were admitted to hospital for social reasons and the others were treated in their homes.One woman suffered a pulmonary embolus on the tenth day of her illness and was admitted to hospital. Three patients were found to develop arrythmias; one of these died. One other patient died, but the others made uneventful recoveries.These results compare well with those obtained by specialist units, perhaps because the advantages of such a unit are balanced by the hazards of transportation to it.     

A benign sickle-cell disease in a Saudi subject with beta zero-thalassemia and glucose-6-phosphate dehydrogenase deficiency

Sickle-cell disease with raised fetal hemoglobin is found relatively frequently in the eastern part of the Arabian Peninsula. In contrast to the severe and sometimes life-threatening complications of sickle-cell disease in the black population, Saudi Arabs homozygotes for HbS gene exhibit a mild course for this disease. Here we present a Saudi sickle-cell patient with an unusually low fetal hemoglobin level. Moreover, this individual has beta 0-thalassemia and a deficiency in the enzyme glucose-6-phosphate dehydrogenase. Clinical and hematological examinations revealed a remarkably benign condition. This observation is potentially important since most of the mild clinical symptoms of sickle-cell disease have been attributed to high fetal hemoglobin. Clearly in this case, other factors are operating and may be also operating in those patients with high fetal hemoglobin.     

On temperature factor and the effect of viscosity on blood temperature in the arteries

A mathematical theory which could be used to explain a clinical observation in some sickle-cell anemia patients is proposed. It is shown that if the energy stored in the elastic walls of the artery of such a patient is accompanied by thermal effects, then the existence of a local hot spot on the body of a sickle-cell anemia patient could be due to shock formation even when the viscosity of the blood is zero. On the other hand, if the energy stored is not accompanied by thermal effects, then a jump in the temperature can only occur if the viscosity is not zero. We give the location of such a jump in the temperature and the time of its occurrence in both cases.     

Improved survival after orthotopic liver grafting.

A total of 108 orthotopic liver transplants have been carried out in the Cambridge/King''s College Hospital series. Over 13 years, changes in patient selection, immunosuppression, and surgical and anaesthetic techniques have led to a steady improvement in results. Results obtained in the last 22 patients indicated that over half survive for one year. Although at considerable risk during the operation, patients with non-malignant cirrhotic diseases who survive one year have a good long-term chance of survival     

Care of the dying in general practice.

The hospice movement has improved the care for the dying patient. But can the hospice experience be easily applied to general practice? In one year in this practice 10 patients were terminally ill, and three of these died at home. The clinical problems encountered over four years are described to illustrate the factors that affect prescribing, which makes caring for a dying patient at home different from that in hospital or even in a hospice.     

The Sickle-cell and Altitude

High altitude seemed to be responsible for seven recent cases of sickling crisis. People with sickle-cell trait are at risk if they fly in unpressurized aircraft, which are used for many local air services. Those with sickle-cell haemoglobin C disease should avoid air travel even in pressurized aircraft. Possibly as a result of “autosplenectomy,” patients with sickle-cell anaemia seem to be able to fly in pressurized aircraft with little risk. All passengers and aircrew who might have some form of sickle-cell disease should be screened before flight.     

Survey of sickle-cell disease in England and Wales.

The incidence and the clinical course of patients suffering from sickle-cell syndrome (Hb SS; Hb SC; Hb S thal) in England and Wales are not known. In 1979 an ad hoc committee was formed to investigate these problems. Initially, a questionnaire was sent to 227 haematologists in England and Wales to determine the number of cases in these countries. The replies have indicated that 1367 cases were seen in 1978 and 1979. Probably this may represent only half the total number of cases. From this survey it has been possible to draw up a composite map showing the location of patients, which has provided a basis to determine the clinical course of the disease, and for further studies into the complications and management of sickle-cell disease in England and Wales. From a second questionnaire preliminary data about the general management and mortality in England and Wales have been recorded.     

Audit of terminal care in a general practice.

OBJECTIVE--To determine satisfaction of relatives and general practitioners with care of patients during terminal illness and make recommendations on improving terminal care in general practice. DESIGN--Interviews with available relatives of patients who had had terminal illnesses and died in 1987, supplemented by questionnaires; questionnaire survey of general practitioners after review of case notes of all their patients who had died of terminal illnesses in 1987. SETTING--One urban general practice. SUBJECTS--34 Relatives of patients with terminal illnesses who died in 1987; five general practitioners from one practice. RESULTS--In six cases relatives were dissatisfied, mainly because of lack of communication; in eight cases doctors were dissatisfied because of communication, poor symptom control, and inadequate care. IMPLICATIONS--There is a need for improved communication between relatives and the health professionals involved in terminal care as well as better advice on services and benefits available to both patients and relatives. Bereavement counselling should be better organised.     

Quantitative aspects of the relationship between the sickle-cell gene and malaria

The relationship between resistance to Plasmodium falciparum infection and the frequency and distribution of the sickle-cell gene in populations exposed to endemic malaria transmission is reducible to clear and quantifiable terms. In this review, Trevor Jones examines the prediction of gene frequency changes under selective pressure, the selective advantage to the heterozygote (balanced polymorphism) that the sickle-cell gene provides to individuals in areas with malaria transmission, and the relationship between sickle-cell gene frequency and malaria, as measured by, for example, sporozoite rate and basic reproduction rate. He seeks to clarify what one can infer about malaria transmission from an analysis of the distribution and inheritance patterns of the sickle-cell gene and sickle-cell disease and under what circumstances these inferences should be made.     

Erythropoietin and renal function in sickle-cell disease.

The relation between haemoglobin concentration, creatinine clearance, and the serum concentration of erythropoiesis-stimulating factor were assessed in 31 patients with homozygous sickle-cell disease. Haemoglobin concentrations fell significantly with decreasing creatinine clearance (r = 0.58, p less than 0.001) and were positively correlated with the concentration of erythropoiesis-stimulating factor (r = 0.65, p less than 0.001). These observations suggest that erythropoietin concentration is the factor limiting production of red cells in sickle-cell disease with renal insufficiency and have implications for treatment.     

Late referral for maintenance dialysis.

A study of patients accepted for maintenance dialysis at the Oxford renal unit in 1981 showed that 23 out of 55 patients were referred late, very shortly before the need for dialysis. This pattern of referral was associated with a higher morbidity at the start of dialysis which may have been preventable. In the late referral group 16 patients (70%) suffered major complications and three (13%) died; by contrast, in the early referral group three patients (9%) suffered complications and one died. Early referral to a renal unit plainly benefits the patient and allows Health Service resources to be used more economically.     

CARDIAC OPERATIONS WITH EXTRACORPOREAL CIRCULATION

In a series of 50 patients for whom a heart-lung machine was used for periods as long as 70 minutes during operations to correct structural defects of the heart, there were no deaths attributable to the machine. Seven patients died. Two of them had high pressure ventricular septal defects with bidirectional shunts; a third patient with the same lesion recovered after repair. One patient died of cardiac tamponade when a large blood clot formed about the entire heart in a loosely closed pericardial sac. Others died of various causes. The development of subacute bacterial endocarditis in one patient led to a change in sterilization of apparatus.     

Hybrid approach for complex coronary artery and valve disease: a clinical follow-up study

For patients suffering from complex coronary artery disease (CAD) with or without concomitant valve disease, no evidence is available in the current guidelines to propose a predefined treatment regimen. We sought to assess the clinical impact of an unconventional or extended definition of the hybrid approach that combines percutaneous coronary intervention (PCI) and cardiac surgery in subjects suffering from severe solitary CAD or combined with valve disease. Between July 2002 and August 2004, 18 consecutive patients with complex CAD with or without significant valve disease who qualified for a hybrid approach were enrolled in a clinical follow-up study. Four patients eventually did not complete the proposed interventions. One patient refused treatment after inclusion, one patient died before treatment could be undertaken and two patients died after surgery but before PCI. In the other 14 cases combined treatment was technically successful. After a mean follow-up period of 15±5 months two patients had died, one due to sudden cardiac death and one of a noncardiac cause. No other major adverse clinical events were reported. A marked increase in quality of life was reported in those alive. Hybrid approach had a favourable long-term outcome in patients with complex cardiovascular disease undergoing successful treatment; however, this was observed at the expense of significant periprocedural mortality in these high-risk subjects. Therefore we believe that hybrid approaches may provide an alternative for selected cases. (Neth Heart J 2007;15:329-34.)     

Percutaneous cholecystolithotomy

A percutaneous method was used to remove stones from otherwise normal gall bladders, as assessed by cholecystography and ultrasonography. The procedure was performed in a single stage under general anaesthesia, adopting the method and instruments used for one stage percutaneous nephrolithotomy. A Foley catheter was left in the gall bladder and the system checked with contrast at 10 days to ensure free drainage and exclude residual calculi. Seven out of eight patients had a successful percutaneous cholecystolithotomy. An adequate track could not be secured in one man; he had an uneventful cholecystectomy under the same anaesthetic. Follow up at three months of the seven patients showed no calculi and no complications.Percutaneous cholecystolithotomy may prove complementary to extracorporeal shockwave lithotripsy in patients in whom there is difficulty focusing the shock waves on the gall bladder or who have had incomplete disintegration of stones.     

Jaundice after Repeated Exposure to Halothane: An Analysis of Reports to the Committee on Safety of Medicines

Analysis of data derived from 130 reports of jaundice occurring after anaesthesia with halothane showed a significant relation between the number of exposures to this anaesthetic and the rapidity with which jaundice develops after exposure. This is considered to provide strong evidence of a cause-effect relationship between the use of halothane and jaundice. Out of 114 patients with complete anaesthetic histories 94 (82%) had been exposed more than once; of those so exposed 80% had been anaesthetized with halothane more than once within 28 days. Altogether 66 (51%) of the 130 patients died.