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Biomedical subjects

J Babel

Publications and source records attributed to J Babel.

At least 19 recordsLinked to original sources
PubMed1992

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.

Algorithms↗
PubMed1989

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.

Blindness↗
PubMed1985

[Sclerocornea].

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

Adult↗
PubMed1984

[Microangiopathy and retinal dystrophy].

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.

Adolescent↗
PubMed1983

[Geographic and helicoid choroidopathies. Clinical and angiographic study; attempted 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.

Adult↗
PubMed1982

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.

Adolescent↗
PubMed1982

[Simultaneous cutaneous and choroidal melanomas (author's transl)].

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.

Choroid Neoplasms↗
PubMed1982

[The retinopathy of ophthalmoplegia plus (Kearn's syndrome)].

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.

Adolescent↗
PubMed1981

[Introduction to orbital surgery (author's transl)].

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.

Exophthalmos↗
PubMed1981

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.

Adult↗
PubMed1981

[Sturge-Weber-Krabbe syndrome with unusual symptomatology (author's transl)].

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.

Adolescent↗
PubMed1981

[Degenerative choroidal atrophy (author's transl)].

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.

Adult↗
PubMed1980

Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis.

A keratoplasty was performed on the right eye of a 12-year-old boy affected by gelatinous drop-like corneal dystrophy. This rare form of primary corneal amyloidosis has been more often reported in Japanese than in occidental literature. In the case presented here, the occasional fusiform deposits of amyloid observed in the stroma suggest a relationship between gelatinous drop-like corneal dystrophy and lattice dystrophy. A new classification of the different types of primary corneal amyloidosis is proposed.

Adolescent↗
PubMed1980

[Dominant chorioretinal dystrophy].

Provisional discussion about a family tree of a large family (13 members of one generation) presenting with a strange dominant hereditary chorioretinal degeneration, probably of Sorsby's type.

Adult↗