Biomedical subjects

C M Mooy

Publications and source records attributed to C M Mooy.

60 records · Page 4Linked to original sources

PubMed1990

Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?

This clinicopathological report describes an unusual combination of axial corneal malformation and angiodysgenesis in the uvea, retina and optic nerve in three eyes. In each specimen there was hypocellularity in the posterior axial stroma, with corresponding loss of the corneal endothelium. The vascular malformation consisted of numerous telangiectatic endothelium-lined tubes with inconspicuous or absent media. One globe was obtained from a stillborn fetus (36 weeks) in which renal agenesis and a sireniform malformation (mermaid fetus) occurred in conjunction with a Fallot's tetralogy, pulmonary hypoplasia and atresia of the trachea and duodenum. Eyes with almost identical malformations were obtained from a 39-week female neonate who died after 5 h as a consequence of renal agenesis and pulmonary hypoplasia. This combination of ocular tissue malformations can be explained by embryological studies, which have shown that the corneal stroma and endothelium and the ocular periendothelial vascular tissues are derived from the neural crest.

Abnormalities, Multiple↗

PubMed1990

Ocular melanoma in families with dysplastic nevus syndrome.

Five families with the dysplastic nevus syndrome, in each of which one member had ocular melanoma, are reported. These five families were examined within a 3-year period in one medical center. To date only five other families with such a combination have been reported. We suggest a causal relation between ocular melanoma and the familial dysplastic nevus syndrome.

Adolescent↗

PubMed1990

Ki-67 immunostaining in uveal melanoma. The effect of pre-enucleation radiotherapy.

The reactivity of 33 choroidal and ciliary body melanomas with monoclonal antibody Ki-67, which recognizes a proliferation associated nuclear antigen, has been assessed and compared with clinicopathologic parameters. In 23 cases, 8 Gy irradiation was given 2 days before enucleation. Nonirradiated melanomas had a significantly higher proliferation rate as defined by staining with monoclonal antibody Ki-67 as compared with irradiated tumors (P = 0.007). Similarly, a strong relationship was found between pre-enucleation irradiation and low mitotic activity (P = 0.001). There was no significant correlation between the presence of Ki-67-positive nuclei and histologic classification, largest tumor diameter, localization of the tumor, age, sex, scleral invasion, pigmentation, and lymphocytic infiltration. The relevance of Ki-67 immunohistochemistry for the assessment of the life prognosis of patients with uveal melanoma has to be studied prospectively.

Antibodies, Monoclonal↗

PubMed1989

Free running Neodymium-YAG laser coagulation of the human fovea. A light and electron microscopic study.

Free Running Neodymium-Yttrium Aluminum Garnet (FR Nd-YAG) laser coagulation of the macula was performed in seven human eyes. Follow-up varied from 1 to 15 days. Damage to the outer retinal layers was apparent immediately after exposure whilst that in the inner retinal layers developed subsequently. The choriocapillaris and major choroidal vessels were occluded. Visual acuity changed in an unpredictable way.

Adult↗

PubMedDate not supplied

CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.

Abnormalities, Multiple↗

PubMedDate not supplied

Prognostic parameters in uveal melanoma: a review.

Histologic cell type, largest tumor diameter and tumor location have traditionally been regarded as the leading predictors of survival for uveal melanoma. Morphological cell typing is, however, subjective to variations in interpretation. More objective classification parameters have emerged from extensive cytomorphometrical and DNA flow cytometrical studies. For patients with uveal melanoma there is no effective therapy if metastases have developed, and the median survival after clinical diagnosis of hepatic metastases is extremely poor. Current research focuses on the mechanisms underlying the metastatic process, including tumor vasculature, cytogenetics, oncogene activation, immunology, melanoma-associated antigens and tumor cell migration (cell-cell and cell-matrix interaction). Several new prognostic parameters have emerged from these studies, such as closed vascular patterns, loss of one chromosome 3, and different indices of cell proliferation. Furthermore, considerable genotypical and phenotypical differences have been found between uveal and cutaneous melanoma. In prospective studies on large series of melanomas a combination of histopathological and/or clinical prognostic parameters might be selected with high sensitivity and specificity, providing a way of selecting patients at high risk of developing metastatic disease, who might be eligible for adjuvant therapy.

Antigens, Neoplasm↗