Recombinant human erythropoietin in the treatment of infants with anaemia of prematurity.

Recombinant human erythropoietin (rHuEPO) was administered subcutaneously three times a week to 18 infants with the anaemia of prematurity at doses of 75, 150, 300, or 600 units/kg per week for 4 weeks, starting at 3-4 weeks of postnatal age. A significant and dose-dependent increase in reticulocyte count was observed from a mean baseline value of 71 x 10(9)/l to 200 x 10(9)/l after 3 weeks of therapy, compared with a change from 69 to 97 x 10(9)/l in 66 historical controls. The haematocrit value remained unchanged during rHuEPO treatment, whereas it steadily declined until 9 weeks of postnatal age in the controls. These effects were accompanied by a marked reduction in serum iron concentration and transferrin saturation in patients receiving standard-dose iron supplements, but not in those given larger doses. Only 3 of 18 patients required a red blood cell transfusion. These infants were among the most anaemic at entry into the study and 2 of them were unable to complete rHuEPO therapy, while the third developed iron deficiency anaemia. These data indicate that rHuEPO with appropriate iron supplementation may accelerate the recovery from anaemia of prematurity. Larger scale placebo-controlled studies are now needed to confirm these findings and verify their impact on transfusion requirements of premature infants.

A pilot study of the relationship between experts' ratings and scores generated by the NBME's Computer-Based Examination System.

This pilot study evaluates the consistency of experts' ratings of students' performances on the National Board of Medical Examiners' Computer Based Examination (CBX) cases and the relationship of those ratings to the CBX's scoring algorithm. The authors were investigating whether an automated scoring algorithm can adequately assess an examinee's management of a computer-simulated patient. In 1989-90, at the Michigan State University College of Human Medicine, eight students, completing a surgery clerkship, each managed eight CBX cases and took a computer-administered, multiple-choice examination. Six clerkship coordinators rated the students' performances in terms of overall management, efficiency, and dangerous actions. The ratings correlated highly with scores produced by the CBX's scoring system.

Comparison of totally implanted and external catheters in paediatric oncology patients.

From June 1982 until December 1989, 93 permanent central venous catheters [59 external catheters (ECs) and 34 implanted catheters (ICs)] were placed in 69 patients. The median age of these patients at placement was 5.6 years for ECs and 8.8 years for ICs (P less than 0.05). Follow-up evaluation was possible on 86 catheters (58 ECs and 28 ICs). The median time of insertion was 236 days and 316 days for ECs and ICs, respectively (P less than 0.05). The median number of open days was 58 for ECs and 66 for ICs (not significant). 17 catheters (6 ECs and 11 ICs) were transiently obstructed (P less than 0.005). 30 episodes of bacteraemia were documented in 20 patients. The incidence of catheter sepsis and bacteraemia of unknown source was one in 278 and 283 open days for ECs and ICs, respectively (not significant). In this retrospective study, ECs appeared to be as safe as ICs when infection was correlated with use of the catheter, but this finding should be confirmed in a randomised design.

Effects of recombinant human erythropoietin in infants with the anemia of prematurity: a pilot study.

In an attempt to stimulate endogenous erythrocyte production and thereby provide an alternative to erythrocyte transfusions, we administered recombinant human erythropoietin (rHuEpo) in doses of 75 to 300 units/kg/wk to seven infants with the anemia of prematurity. Treatment was started between 21 and 33 days of life, maintained for 4 weeks, and was well tolerated. All the patients had low baseline serum erythropoietin levels. After rHuEpo therapy, the number of reticulocytes increased from a mean baseline count of 75 x 10(9)/L to 95, 141, and 165 x 10(9)/L on days 7, 10, and 14 of therapy, respectively. Correction or stabilization of the anemia was observed in six of seven patients, whose estimated total erythrocyte volume increased by 49% during therapy (vs a predicted increment of 18% in the absence of rHuEpo). In one patient, however, the hematocrit declined during the treatment, and in three of the responders a secondary fall in hematocrit was noted either during therapy or after its discontinuation. Serum iron and ferritin levels rapidly decreased after the initiation of rHuEpo therapy, and in most patients transient early thrombocytosis and late neutropenia were observed. These data suggest that rHuEpo may correct or stabilize the anemia of prematurity. Its effects, however, may be limited by a variety of factors, among which iron availability probably plays an important role. Controlled studies will be needed to confirm these preliminary observations.

Leber's congenital amaurosis associated with high hyperopia in four sisters.

The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.

[Sclerocornea]. / Zum Problem der Sklerokornea.

Findings in seven clinically and three histologically examined cases led to the conclusion that total sclerocornea represents a partial manifestation of variable cleavage syndrome.

[Microangiopathy and retinal dystrophy]. / Microangiopathie et dystrophie rétinienne.

Two cases are described of an association of retinal dystrophy and a vasculopathy similar to Coat's disease. The first case was a female adult in whom the two sets of symptoms appeared almost simultaneously. In the second case the disease appeared in infancy, evolved rapidly during adolescence and led to blindness. In both cases, the vasculopathy developed over several years and then stabilised; in contrast, the dystrophy, which was of the paucipigmentary type, continued to get worse. From these two cases, and others described in the literature, it appears that many causes can be involved in the association of the two syndromes. A genetic factor that has been demonstrated in several families was not present in these two patients; there appears to have been an immunological or inflammatory process, not yet identified, that became active at the time of the rapid evolution of the dystrophy.

[Geographic and helicoid choroidopathies. Clinical and angiographic study; attempted classification]. / Les choroïdopathies géographiques et hélicoïdales. Etude clinique et angiographique; essai de classification.

Among the helicoid and geographic (or serpiginous) choroidopathies, several entities can be distinguished which differ in their clinical evolution, morphology, angiographic appearance and pathophysiology. The entity is a chorioretinal heredodystrophy characterized by tonguelike strips of choroidal atrophy radiating starlike, from the optic disc. The evolution lasts many years (up to 20 or more), with slow progression and no inflammatory stages. Other types originate from occlusion of one or several short ciliary vessels, or at least of the corresponding choriocapillary network. Inflammation is always present initially. In the acute stage, there are localized or lobular areas of exudation. After an evolution of variable duration, up to 4-5 years, exudation is followed by atrophy and formation of scars at times helicoidal in configuration but somewhat more irregular than the dystrophic entity. Similar scars around the optic disc or in the posterior pole sometimes arise from a generalized vasculopathy e.g. a giant cell arteritis. Several typical cases are presented to demonstrate the variety of manifestations that constitute tentative system of classification.

Haemostatic changes during open heart surgery with extracorporeal circulation and deep hypothermia in children.

The haemostatic status of twenty children with cyanotic and acyanotic cardiopathies was studied before, during and after cardiopulmonary bypass (CPB) under deep hypothermia and haemodilution. Eleven patients had various haemostatic troubles before surgery. Haemodilution with a crystalloid solution to an haematocrit of 21,8 vol. +/- 1,3% resulted in a severe lowering of all coagulation factors. Forced diuresis after CPB induced partial normalization. The observed alterations included moderate thrombocytopenia, prolongation of the prothrombin time, transient decrease of factors V and plasminogen, elevation of fibrin degradation products (FDP), significant lowering of factor VII-X, marked elevation of factor VIII and mild increase of fibrinogen. No correlation was found between coagulation abnormalities and postoperative bleeding, duration of CPB or type of cardiopathies. It is concluded that CPB with haemodilution proves as safe as more conventional approaches in respect to coagulant activities.

[The retinopathy of ophthalmoplegia plus (Kearn's syndrome)]. / La rétinopathie de l'ophtalmoplégie plus ou syndrome de Kearns.

The retinopathy of ophthalmoplegia plus (Kearns syndrome) is characterised by an extreme variability and a relative mildness of the visual disturbances, contrasting with the gravity of the ophthalmoscopic lesions. A study of three new cases, as well as an analysis of the literature, tend to demonstrate that the retinal lesions are mainly localised in the pigment-epithelial cells (mitochondrial anomalies?). This peculiar pathogenesis could explain why the retinopathy in this syndrome differs from classical pigmentary retinopathy.

[Simultaneous cutaneous and choroidal melanomas (author's transl)]. / Mélanomes simultanés de la choroïde et de la peau.

In patients with both cutaneous and ocular malignant melanomas it is most important for prognosis and therapy to know whether they are distinct tumors developing simultaneously or whether one of the tumors represents a metastasis of the other. In the case reported here, two distinct tumours developed independently from pre-existing benign melanocytic lesions. Cases of this type, which are extremely rare, are discussed as well as the differential diagnosis between primary choroidal malignant melanoma and choroidal metastases from melanomas of different origin.

Pseudo-inflammatory chorioretinal degeneration of the posterior pole. Study of a family of four affected generations, associated with tapetoretinal amaurosis (Leber) in the fifth generation.

A description is given of a large family in which a particular form of posterior pole dystrophy occurs, but in which (except for one 21-year-old patient) no symptoms occur before the age of forty. Although it is of dominant transmission through four generations with a high degree of penetrance, slight forms do occur. The disease evolves in 2-4 years and in serious cases there is total loss of the central vision. Peripheral vision is conserved, so that affected patients are never entirely disabled and dependent. Early or slight cases may be precociously detected by angiography or sensitive functional tests (EOG, VER, and perhaps colour vision). The rapid evolution is due to exudative or haemorrhagic phenomena. This observation corresponds with the description of the disease individualized by Sorsby (pseudo-inflammatory posterior pole dystrophy) and is related to colloid degeneration. In the fifth generation a case of Leber's congenital amaurosis occurs, which is difficult to relate to the late posterior pole dystrophy.

[Introduction to orbital surgery (author's transl)]. / Introduction à la chirurgie de l'orbite.

After a revision of orbital anatomy, the following problems are exposed: necessary examinations to localize a tumoral invasion, interest of biopsy and its limits, determination of the type of treatment and description of surgical approaches, if surgery is decided.

Intravascular papillary endothelial hyperplasia of the orbit.

Intravascular papillary endothelial hyperplasia is a rare vascular benign tumour bearing some similarities to malignant angiosarcoma. The case reported here in a 20-year-old girl is of particular interest because the orbital tumour, despite its entirely benign nature, invaded the temporal fossa through the lateral bone of the orbit.

[Degenerative choroidal atrophy (author's transl)]. / Les atrophies choroïdiennes dégénératives.

Based on of 10 personal observations, the authors discuss the modes of onset and the various clinical, functional and genetic aspects of primary degenerative choroidal atrophies. Central areolar atrophy may be the only lesion or is sometimes associated with other signs of a more extensive degeneration (fundus flavimaculatus, degeneration of the posterior pole). Among the diffuse forms a familial case is reported which can be interpreted as a sectorial hypoplasia, and a case similar to a choroideremia, but with recessive transmission.

[Sturge-Weber-Krabbe syndrome with unusual symptomatology (author's transl)]. / Maladie de Sturge-Weber à symptomatologie inhabituelle a propos de 2 cas.

Two cases of Sturge-Weber-Krabbe's syndrome with unusual symptomatology are described. In the first case 13 years old boy the naevus flammeus was missing. A convulsive fit at the age of 2 1/2 years led to the correct diagnosis from the very characteristic radiological findings. At 13 years, intracortical calcifications were bulky and diffuse, and associated with optic nerve hypoplasia and anomalies of ocular motricity, their relation with the syndrome being difficult to establish. In the second patient (aged 17) the naevus flammeus was extensive, with numerous naevi on the whole body, and was associated with a retinal vascular malformation and glaucoma. A choroidal angioma was not observed. In these two patients the disease was isolated, without familial character, and there were no other neurological symptoms such as a pathological EEG. No evidence of mental retardation was noted.