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Biomedical subjects

F Meire

Publications and source records attributed to F Meire.

53 records · Page 3Linked to original sources
PubMed1992

Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.

Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.

Adolescent↗
PubMed1991

Persisting chloroquine-induced myasthenia?

A middle-age woman had intermittently had chloroquine as an antimalarial agent for 21 years. Although she had discontinued the drug for more than 10 years due to occurrence of a retinopathy, mild ocular myasthenic symptoms persisted. Cardiac conduction disturbances were detected as well. A quadriceps muscle biopsy revealed mild neurogenic changes and interstitial lymphorrhages. The decremental response after repetitive stimulation was reversed by edrophonium administration. The history suggests that the persisting myasthenia might have been caused by chloroquine intake.

Chloroquine↗
PubMed1991

Optic atrophy as a complication of neonatal alloimmune thrombocytopenia.

A five-month-old girl with optic atrophy presented porencephaly on computerized tomography of the brain. Diffuse intracranial hemorrhages occurred in the neonatal period as a result of thrombocytopenia. As the maternal platelets were negative for the platelet antigens, the diagnosis of neonatal alloimmune thrombocytopenia was made. The present case shows that optic atrophy as a single finding can lead to the diagnosis of a rare disorder.

Autoimmune Diseases↗
PubMed1990

Functional quantification of diaphany.

Intraocular straylight can be measured, in clinical as well as normal cases, by the direct compensation technique. Intraocular straylight is known to originate from the cornea, lens and fundus. We have studied a fourth source: the translucency of the iris and surrounding ocular wall. For lightly-pigmented normal eyes this source proved to be important. In the present paper results are reported from a patient with X-linked megalocornea. He had diaphany of the iris, as is common in these patients, and photophobic complaints. Quantitative measurements showed that the translucency was much increased so that the intraocular straylight was far above the normal level.

Adult↗
PubMed1990

The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time.

The effect of the synthetic vasopressin derivative 1-desamino-8D-arginine vasopressin (DDAVP = Minrin) on bleeding time was studied in nine patients with Hermansky-Pudlak syndrome; four of them were Dutch, five were Belgian. Shortening of bleeding time was observed in four of the patients with this type of storage pool disease; in one patient the response was equivocal, in two patients the response was not dramatic and in two there was no response at all. DDAVP may be useful in managing the bleeding disorder in some patients with Hermansky-Pudlak syndrome. Therefore, every patient with this syndrome should be tested with DDAVP as a preventive measure.

Adolescent↗
PubMed1989

Posterior microphthalmos.

Posterior microphthalmos is a congenital anomaly of the posterior segment of the eye, caused by an abnormally thickened sclera. The thickened sclera does not impede the growth of the neuro-retina but seems to influence the development of the choroid and of the retinal pigment epithelium. This may explain the common occurrence of a papillomacular fold in such cases. As such eyes are at risk of developing uveal effusion or angle-closure glaucoma, it is important to consider the diagnosis of posterior microphthalmos in high hypermetropic eyes.

Adult↗
PubMed1985

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

This paper describes a family where chronic progressive external ophthalmoplegia is associated with dominant optic atrophy and progressive sensorineural deafness. This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. However, we believe that this family represents an unusual manifestation of ophthalmoplegia plus.

Adult↗
PubMedDate not supplied

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I: choanal atresia (n = 5) and choanal stenosis (n = 1); Group II: congenital nasal pyriform aperture stenosis (CNPAS) (n = 3) and holoprosencephaly (n = 1); Group III: nasolacrimal duct mucocele (n = 1); Group IV: nasal hypoplasia (n = 1). Associated anomalies were found in eight patients. Four patients with choanal atresia showed manifestations of the CHARGE (coloboma, congenital heart defect, atretic choanae, retarded physical and neuromotor development associated with central nervous system anomalies, genital hypoplasia, and ear anomaly and/or deafness) association. In the fifth patient with choanal atresia, the diagnosis of amnion disruption sequence was made. One patient with CNPAS had a solitary maxillary central incisor (SMCI), a mild form of holoprosencephaly. Besides proboscis and synophthalmos, SMCI was also present in the holoprosencephaly case. The patient with severe nasal hypoplasia had warfarin embryopathy. This review emphasizes the need for performing imaging studies in the diagnostic workup of neonates born with nasal obstruction.

Abnormalities, Multiple↗