A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
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Biomedical subjects
Publications and source records attributed to P Gronnier.
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The authors report on a cooperative study of 43 cases of bacterial pericarditis observed in children. This disorder was suspected in patients with septicemia who developed symptoms and signs of pericarditis (precordial pain, muffled heart sounds, pericardial friction rub, cardiomegaly). Early diagnosis of this condition is now facilitated by echocardiography. A combination of medical and surgical treatments (appropriate antibiotic therapy after culture and sensitivity tests and early pericardial drainage) led to complete recovery in almost all of the cases (42 of 43). After long-term follow-up, no cases of constrictive pericarditis were observed.
The authors report 4 cases of the scimitar syndrome with pulmonary hypertension by stenosis of an abnormally draining right pulmonary vein and they also review the literature. All cases were symptomatic from infancy. The diagnosis was confirmed by catheterisation which showed a significant pressure gradient between the right pulmonary vein and the inferior vena cava, and by angiography which demonstrated the stenosis. None of the treatments proposed (interventional catheterisation with dilatation and eventual implantation of a stent, surgery with treatment of the stenosis and reimplantation of the right pulmonary vein in the left atrium, or pneumonectomy) were satisfactory. However, it is possible that earlier treatment could be effective as changes in the pulmonary vascular bed seem to occur very early in these patients.
The authors present two cases of infectious myocardial pseudo-aneurysms: the first was secondary to an intracardiac foreign body with mitral valve endocarditis; the second to septicaemia of urinary origin. Both cases progressed to calcification of the pseudo-aneurysm which appeared to be a mode of healing. Reviewed 20 and 19 years respectively after the initial episode, both patients have normal cardiac appearances apart from the residual myocardial calcification.
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