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Biomedical subjects

T Hadjistilianou

Publications and source records attributed to T Hadjistilianou.

At least 19 recordsLinked to original sources
PubMed2006

Pleomorphic adenoma of the lacrimal gland in an 18-year-old girl irradiated for bilateral retinoblastoma.

PURPOSE: To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma. MATERIALS AND METHODS: Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised. RESULTS: Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma.

Adenoma, Pleomorphic↗
PubMed2004

Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.

We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.

Adult↗
PubMed2001

Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

Abnormalities, Multiple↗
PubMed2001

Coats disease: smaller volume of the affected globe.

PURPOSE: To determine whether a significant smaller volume of the affected globe, compared with that of the normal globe, is an additional feature of Coats disease. MATERIALS AND METHODS: Ocular globe volume was assessed in 13 children (11 boys, two girls; age range, 0.6-14 years; mean age, 4.1 years) with Coats disease and in 18 (eight boys, 10 girls; age range, 0.5-12 years; mean age, 3.6 years) with unilateral retinoblastoma. Orbital computed tomographic scans were available for all children; magnetic resonance images were available for 11 children-seven with Coats disease and four with retinoblastoma. For volume estimation, anteroposterior and equatorial diameters of ocular globes were measured. Statistical analysis was conducted with univariate and multivariate methods. RESULTS: In children with Coats disease, the mean volume of the affected globe was 4,877.03 mm(3) (range, 2,951.47-6,284.70 mm(3)) and that of the normal globe, 6,018.00 mm(3) (range, 4,062.32-7,509.26 mm(3)). In children with retinoblastoma, the mean volume of the affected globe was 4,557.06 mm(3) (range, 1,612.01-7,463.00 mm(3)) and that of the normal globe, 4,402.11 mm(3) (range, 1,360.46- 7,463.00 mm(3)). The Coats disease population had a significantly smaller volume of the affected globe (z = -3.1009; P =.002); the retinoblastoma population did not have a statistically significant trend toward a bigger affected globe volume (z = -1.7064; P =.088). The difference between the affected globe volume and the normal globe volume in children with Coats disease was the only significant independent variable (P =.005). CONCLUSION: A significantly smaller volume of the affected globe is an additional feature of Coats disease.

Adolescent↗
PubMed2000

MOMO syndrome: a possible third case.

This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

Abnormalities, Multiple↗
PubMed1998

Loss of heterozygosity on the long arm of chromosome 11 in orbital embryonal rhabdomyosarcoma (OERMS): a microsatellite study of seven cases.

OBJECTIVES. To investigate, by means of microsatellite analysis, regions of chromosome 11 involved in the genesis of embryonal rhabdomyosarcoma (ERMS) localized to the orbit. METHODS. Microsatellite analysis was carried out on seven cases of orbital ERMS by comparing the electrophoretic migration patterns of PCR-amplified microsatellites of chromosome 11 from both constitutional (blood) and tumor genotypes. Five of the tumors analyzed were samples frozen at the time of surgery, and two were paraffin embedded. RESULTS. Overall, microsatellites D11S1396 (11q13.1-q22.3) and D11S976 (11q) showed loss of heterozygosity (LOH) in all tumor samples, thus indicating the presence, on the long arm of chromosome 11, of one or more tumor suppressor genes with a possible role in the genesis of the disease. CONCLUSION. While the role of genes on the short arm of chromosome 11 in the genesis of ERMS is well established, much less is known of the possible involvement of tumor suppressor genes on the long arm of the same chromosome. This is the first report showing the possible involvement of tumor suppressor genes in this portion of the chromosome in ERMS localized to the orbit.

Journal Article↗
PubMed1997

Design and implementation of a relational database used in the management of patients with retinoblastoma.

Clinical data are most useful in the management of patients with complex medical problems if they are accurate, reliable, and easily accessible by physicians and the medical community at large. Furthermore, the data are most valuable when they can be shared among cooperating institutions. We describe a computer system which exhibits a uniform taxonomy, an integrated on-line dictionary of clinical terms, a coherent temporal layout, and persistent spatial integrity with regard to the values of the variables. The system is user friendly and provides real time data access which can be retrieved by structured query language or may be programmed to be used as part of an international network in the management of patients with retinoblastoma, a malignant and potentially fatal tumor of childhood. Furthermore, because of its design flexibility, this system provides for potential application to other ophthalmic disorders, such as malignant uveal melanoma, and other areas of medicine as well.

Databases, Factual↗
PubMed1991

Italian register for retinoblastoma. Pros and cons of a retrospective statistical study.

In an attempt to verify some of the current conflicting results concerning the impact of relevant prognostic factors in the retinoblastoma therapy, the authors took into consideration, for statistical analysis, the series of 459 cases included in the Italian Registry for retrospective study of retinoblastoma. Although this series appears large enough, problems related to the continuously changing approaches to the disease and the consequent lack of standardization often make it difficult to draw significant conclusions. Hence, while historical (retrospective) analysis often allows the manipulation of a great number of data, particularly in the case of relatively rare diseases, prospective randomized controlled trials are strongly recommended to standardize definitely the relevant prognostic criteria. These and other problems related to retrospective analysis are discussed in detail.

Evaluation Studies as Topic↗
PubMed1991

Recurrent and new tumours during conservative treatment of bilateral retinoblastoma.

Conservative treatment of retinoblastoma is a combination of different therapeutic modalities: radiotherapy, photocoagulation, cryocoagulation, chemotherapy. The choice of the most suitable treatment depends on the stage of the disease. The evaluation of the regression and quiescence of tumoral foci after radiotherapy, Xenon photocoagulation or cryocoagulation is based on a purely subjective examination of the ophthalmoscopic aspects which are common to various types of treatment. Frequently, degenerative changes of the tumour mass are difficult to differentiate from actual recurrence. Recurrences generally start at the edge of the scar or within the scar, while new retinal tumours are observed far from the original tumour, sometimes near the ora serrata. The authors discuss the regression patterns and the ophthalmoscopic and clinical aspects of recurrent and new tumours and report their personal experience on the therapeutic approach.

Antineoplastic Agents↗
PubMed1990

Pathogenesis of posterior capsular opacification. Part II: Histopathological and in vitro culture findings.

The most interesting sources of information about the pathogenesis of posterior capsular opacification seem to be histopathological studies and in vitro tissue cultures. Since our surgical technique is extracapsular cataract extraction, the explants we used for tissue culture consisted of the anterior capsule epithelial sheet without the equatorial germinative zone. We successfully overcame several problems by using the autologous plasma clot culture method. This medium, considered the optimal one for this type of culture, allowed us to study the heterogeneous behavior of the epithelial cells in culture. Using the plasma clot culture method, we were able to demonstrate in vitro fibroblastic transformation of the epithelial cells. Histopathological findings of particular cases of posterior capsule opacification and immunohistochemistry of the human lens are also reported.

Actins↗
PubMed1989

Retinoblastoma. Analysis of 75 cases and proposal for a new model of oncogenesis and tumor growth kinetics.

A series of 75 retinoblastoma patients were analyzed at the Institute of Ophthalmology, Siena, and a mathematical model for the 'nodule to cancer' transformation applied to it. The authors obtained data in disagreement with Knudson's 'two hit' hypothesis but fitting an alternative model of oncogenesis. This model is based on probabilistic arguments and a possible pattern of tumor growth and evolution is given in detail.

Adolescent↗
PubMed1989

Histopathological evaluation for the prognosis of retinoblastoma.

In the present study histologic, clinical and follow-up data of 37 cases of retinoblastoma were statistically analyzed by means of a multivariate method. The evaluated histological parameters were: growth pattern, degree of differentiation, number of mitoses, presence of necrosis, pseudorosettes, blood vessel basophilia, calcification, extension to anterior chamber, invasion of optic nerve and ocular coats (choroid and sclera). The analysis was based upon the Cox proportional hazards regression model. Invasion of ocular coats proved to be highly correlated to the prognosis (p less than 0.0002). None of the other parameters showed a significant relation to survival.

Child↗
PubMed1989

Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases.

Two cases of buphthalmos and regional gigantism in peripheral neurofibromatosis (Von Recklinghausen disease) are described. The ocular hypertension was detected at birth and thereafter the facial hemihypertrophy, café-au-lait spots and neurofibromas. One case presented a progressive facial elephantiasis without buphthalmos. The evolution in neurofibromatous elephantiasis of these three cases is discussed.

Child↗
PubMed1989

Expression of actin isoforms and intermediate filament proteins in childhood orbital rhabdomyosarcomas.

The diagnosis of orbital rhabdomyosarcoma (RMS) in childhood gives rise to several clinical and anatomo-pathological problems. Antibodies recognizing structural proteins and cytoskeletal components have been shown to increase the diagnostic accuracy of different neoplastic lesions. In this study we examined anatomo-clinically and, where possible, by means of immunohistochemistry and electron microscopy, a series of 14 cases of orbital RMS in childhood. In the 12 cases studied by immunohistochemistry, desmin was always present, although showing variable patterns, and alpha-sarcomeric actin was found in 10 cases. alpha-Smooth muscle actin was always absent. The other markers tested (myoglobin, polyclonal actin, vimentin and enolase) proved unreliable for several reasons. We conclude that antibodies against desmin and alpha-sarcomeric actin are useful for the diagnostic definition of RMS. In addition, immunohistochemical analysis supplies data regarding the degree of tumor differentiation and may be applied to monitor radio- and chemotherapy.

Actins↗
PubMed1985

Aicardi's syndrome.

Some cases of complete Aicardi's syndrome (agenesis of the corpus callosum, infantile spasmus, mental retardation, costovertebral anomalies and a characteristic lacunar chorioretinopathy) are reported together with other unusual cases (isolated lacunar chorioretinopathy).

Abnormalities, Multiple↗
PubMed1985

Etiology of congenital glaucoma. Genetic and extragenetic factors.

Congenital glaucoma (simple, associated and secondary) has been studied for the frequency of mesodermal anomalies and malformations (skeletal changes, congenital heart diseases, neurological alterations). But congenital glaucoma is not due solely to genetic factors: it is more likely that most cases result from interaction between genetic predisposition and a combination of environmental causes.

Congenital Abnormalities↗