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The genetic defect in X-linked lymphoproliferative syndrome (XLP) is the Src homology 2 domain-containing protein SAP. SAP constitutively associates with the cell surface molecule, signaling lymphocytic activation molecule (SLAM), and competes with SH2-domain containing protein tyrosine phosphatase-2 (SHP-2) for recruitment to SLAM. SLAM exhibits homology with the mouse cell surface receptor 2B4. The human homologue of 2B4 has now been identified. It is recognized by the c1.7 mAb, a mAb capable of activating human NK cells. Human 2B4 became tyrosine phosphorylated following pervanadate-treatment of transfected cells and recruited SHP-2. SAP was also recruited to 2B4 in activated cells. Importantly, the 2B4-SAP interaction prevented the association between 2B4 and SHP-2. These results suggest that the phenotype of XLP may result from perturbed signaling not only through SLAM, but also other cell surface molecules that utilize SAP as a signaling adaptor protein.

Based on color Doppler methodology, regional myocardial strain rates and strain can now be calculated by comparing local myocardial velocity profiles. These deformation data sets may be an important new approach to quantifying regional function of the left or right ventricle in congenital heart disease. This review will give an introduction to the principles behind the technique and how data are acquired and processed. It will also discuss the findings of clinical studies based on this new technique. © 2003 CEPI Srl.

Proton nuclear magnetic resonance (NMR) spectroscopy was used to examine cerebrospinal fluid (CSF) from patients (n = 30) with actively progressive multiple sclerosis (MS). Metabolite concentrations obtained from the spectra were compared to those determined from the spectra of CSF from control patients (n = 27) with benign spinal disorders. No significant difference was found between the 2 groups for most constituents, including lactate, glutamine, citrate, creatine and creatinine, and glucose. Acetate levels were significantly higher in MS patients, while formate levels were significantly lower, than the controls. There were no significant differences in metabolite concentrations in CSF from early and longstanding MS patients. A peak due to an unidentified compound was found at 2.82 ppm in the spectra of CSF from patients with actively progressive MS, but not in the spectra of CSF from the controls. The peak was not found in spectra of CSF from patients with AIDS dementia complex (n = 9) or Parkinson's disease (n = 5), but it did appear in spectra of CSF from 1 patient with Jakob-Creutzfeldt disease (out of 3 examined) and from 1 patient (out of 7) with Guillan-Barré disease. The unidentified compound is volatile and, from the chemical shift of the observed NMR peak, is probably an N-methyl compound. As such, it may be an intermediate in the cholino-glycine cycle, in which an abnormality has been proposed to exist in MS patients.

The progressive developments in cardiac ultrasound during the past 20 years have substantially altered the practice of the paediatric cardiologist. Cardiac ultrasound studies are now the primary diagnostic method in congenital heart disease. Invasive catheterisation studies have been minimised and angiography to a large extent superseded. Haemodynamic information in the majority of cardiac lesions is equally well obtained by detailed Doppler studies as by catheter studies. Lesions within the thoracic aorta and central pulmonary arteries are an exception to this. Transoesophageal echocar-diography has provided a new method of assessing the immediate results of cardiac surgery and is playing an increasing role in the intensive care management of children. Fetal echocardiography has now reached a diagnostic accuracy which allows it to be used as a screening technique for specific heart lesions which may warrant termination of pregnancy. Both computed tomography and magnetic resonance imaging offer noninvasive alternative methods of diagnosing congenital heart disease. It is likely that their roles in paediatric cardiology will expand during the next decade as real-time imaging and haemodynamic information becomes avail able. It is likely, however, that cardiac ultrasound will remain the initial investigative method of choice because of its inexpensive nature, its portability and its diagnostic accuracy. It will remain the diagnostic technique of choice in the neonatal nursery, the operating theatre, and in the intensive care unit.

BACKGROUND During the past few years, transesophageal echocardiography (TEE) has been increasingly used in clinical cardiology; data concerning the practicability and safety of the technique, however, are rare. METHODS AND RESULTS This report analyzes the experience of 15 European centers performing TEE studies for at least 1 year. At the time of this survey, 10,419 TEE examinations had been attempted or performed in these institutions. These TEE examinations were carried out by 54 physicians, 53.7% of whom had been trained in endoscopic techniques. Within the same time period, 160,431 precordial echocardiographic examinations were performed in the 15 institutions; the ratio between TEE and transthoracic studies averaged 9.03 +/- 6.4% (range of the 15 centers, 1.4-23.6%). Of the 10,419 patients, 9,240 (88.7%) were conscious inpatients or outpatients at the time of the TEE examination; the vast majority of the conscious patients did not receive intravenous sedation before TEE. In 201 cases (1.9%), insertion of the TEE probe was unsuccessfully attempted because of a lack of patient cooperation and/or operator experience (98.5%) or because of anatomical reasons (1.5%). In 90 of 10,218 TEE studies (0.88%) with successful probe insertion, the examination had to be interrupted because of the patient's intolerance of the echoscope (65 cases); because of pulmonary (eight cases), cardiac (eight cases), or bleeding complications (two cases); or for other reasons (seven cases). One of the bleeding complications resulted from a malignant lung tumor with esophageal infiltration and was fatal (mortality rate, 0.0098%). CONCLUSIONS This multicenter survey documents that TEE studies are associated with an acceptable low risk when used by experienced operators under proper safety conditions.

The optimal management of pulmonary atresia with an intact ventricular septum in the neonate remains controversial. The introduction of balloon septostomy and prostaglandin has significantly reduced early mortality but early surgical intervention is necessary to obtain a more adequate pulmonary blood flow. Fourteen neonates with pulmonary atresia and an intact ventricular septum were admitted to the Wessex Cardiothoracic Unit, Southampton from 1979 to 1986. Thirteen patients underwent cardiac catheterization. Cardiac catheterization data and right ventricular angiograms were reviewed retrospectively. Four patients with tripartite ventricles underwent total repair. The others received various palliative operations (valvotomy + modified Blalock-Taussig shunt or modified Blalock-Taussig shunt alone). Retrospective analysis of the angiograms indicated that right ventricular morphology alone is not a satisfactory criterion for surgical management. We have been able to demonstrate that there is a good correlation between the diameter of the tricuspid valve and the diameter of the infundibulum and that successful neonatal repair is possible when the tricuspid valve diameter is above 80% of the normal value for weight and when the tricuspid valve diameter to infundibular diameter ratio (TV/Inf ratio) is 2.2 or less. In patients with a tripartite ventricle but inadequate TV diameter and TV/Inf ratio, a closed pulmonary valvotomy with a modified Blalock-Taussig shunt remains the treatment of choice.

In a retrospective multicentre study, the diagnostic potential of transoesophageal 2D-echocardiography (TEE) as compared to precordial 2D-echocardiography (TTE) was determined in 154 patients with primary or secondary tumours of the heart. Additionally, the value of standard diagnostic parameters, such as symptoms, X-ray of the chest and electrocardiogram were evaluated. In 84 patients (24 male, 60 female; age 20-85, mean 56.6 years) intracardial tumours were present, and 70 patients (37 male, 33 female; age 18-79, mean 44.3 years) presented with peri- or paracardial tumours. The main symptoms of patients with intracardial tumours were dyspnoea (60.7%), vena cava syndrome (22.2%) and chest pain (20.2%). Embolization was found in 11.9%. Left or right atrial enlargement was observed on chest X-ray in 23 patients, and echocardiographic abnormalities in 17 cases. The patients with peri- or paracardial tumours presented with dyspnoea in 51.4% of cases, loss in body weight in 20.0% and with vena cava syndrome and chest pain in 17.1%. The chest X-ray was abnormal in 56 patients. Unspecific ST segment changes in the electrocardiogram were observed in five, and arrhythmias in seven cases. Diagnosis of atrial myxomas was achieved by TTE in 95.2%, by TEE in 100%, by angiography in 78.4%, by computed tomography (CT) or magnetic resonance tomography (NMR) in 70%. Identification of the attachment point was made by angiography in 8.1%, by TTE in 64.5% and by TEE in 95.2%. In 22 patients with intracardial tumours (myxomas excepted) diagnosis was achieved by TTE in 90.9%, by TEE in 100%, by CT or NMR in 88.9% and by angiography in 50%.(ABSTRACT TRUNCATED AT 250 WORDS)

The cases of 110 infants less than 1 year of age, who had surgical repair for coarctation of the aorta between June 1974 and February 1988, were analysed. Three groups of patients were identified. In group 1 there were 39 patients with isolated coarctation. In group 2 there were 25 infants with additional ventricular septal defects (VSD), while in group 3 there were 46 infants with other associated congenital cardiac defects. Repair was performed using the subclavian flap aortoplasty (SFA) procedure in 83 patients, resection with end-to-end anastomosis (EEA) in 23, patch aortoplasty in 3 and Goretex tube bypass in 1. Twenty-eight patients had simultaneous pulmonary artery banding and one concomitant closure of the VSD. The overall early mortality rate was 8.2% (5.1% in group 1, 0% in group 2, and 15.2% in group 3). Age at operation (under 1 month, p = 0.04) and other associated cardiac anomalies (p = 0.03) increased early mortality significantly. There were 11 late deaths (10.8%) among 101 patients followed from 1 to 15 years (mean 5.3 years). Twelve patients underwent further surgery for recoarctation, eight of them within 11 months. A further 11 patients currently have a Doppler gradient across their coarctation site of more than 20 mmHg, but have not undergone further surgery to the coarctation repair site.

It is only a few years since computers were essentially regarded by the public as complicated machines used only by banks, major industrial concerns and research establishments. But the situation is changing rapidly to one where in every household the computer will sit alongside the video tape recorder and the television set. Every schoolchild is now taught how to use computers and elementary keyboard operation skills. They are pervasive throughout our society. A tremendous development of their use by small businesses has occurred where this would not have been considered cost effective only a few years ago. However, it is only with the publication of the “White Paper” on the most recent reorganization of the Health Service that the importance of introducing computers for information management has ultimately been recognized as central to the effective management of the Health Service. It appears that the financial implications of such developments have also been accepted. Radiologists in this country hav...