Depression and quality of life during treatment of ocular bulb removal in individuals with uveal melanoma.

The objective of this study is to asses the emotional repercussions in individuals with uveal melanoma referred for surgery, during the diagnosis and preoperative, post-surgery and late post-surgery phases. The clinical qualitative assessment used the Beck Depression Inventory and the Medical Outcomes Study 36-Item Short-Form Health Survey. Twenty patients were individually assessed, 13 men and 7 women, with an average age of 52. Before surgery, patients appeared fragile and impacted by the diagnosis and treatment, showing a minimum to mild state of depression and a quality of life affected by emotional and physical concepts. Three months after surgery, the patients showed a mild to severe state of depression. This depression had an effect on the physical, vitality, emotional, mental health and social life concepts, the emotional concept being the most affected. One year after the surgery, patients presented a minimum state of depression and quality of life had most health concepts in balance. It was concluded that the worst moment for the patient is 3 months after the surgery, when they appear more fragile with difficulties of adaptation, anxiety and depression. One year after the surgery, they appear more structured and with a more balanced quality of life.

Tumour angiogenesis as a prognostic factor for disease dissemination in retinoblastoma.

AIM: To evaluate tumour angiogenesis as a predictor of prognosis in retinoblastoma. METHODS: This was a retrospective, non-randomised comparative clinicopathological study. The histopathology from 24 cases of Reese-Ellsworth (RE) group V unilateral retinoblastoma treated by enucleation alone was reviewed. Group I consisted of five patients (four RE group Vb and one group Va) who developed disseminated disease at a mean of 10.4 months after enucleation. The remaining 19 patients constitute group II (18 RE group Vb and 1 group Va), none of whom had developed metastatic disease with a mean follow up of 54 months. None of the 24 patients had evidence of extraocular disease at enucleation. The surgical specimens from patients with unilateral retinoblastoma treated by enucleation at Hospital do Cancer AC Camargo between January 1992 and December 1995 were identified, reviewed and the clinical data recorded. Two subsequent histological sections were prepared. One stained with haematoxylin and eosin for assessment of choroidal and optic nerve invasion, and the other for immunoreaction with an endothelium specific marker (antibody anti-CD 34). The main outcome measures were choroidal and/or optic nerve invasion and quantification of the tumour's relative vascular area (TRVA) obtained by Chalkley counting. RESULTS: Choroidal invasion was present in three eyes of group I (all massive) and six eyes of group II (two focal and four massive). Optic nerve invasion was found in two eyes of group I (all post-laminar) and four eyes of group II (three prelaminar and one post-laminar). There was no statistical difference regarding choroidal or optic nerve between the two groups. The TRVA was the only independent variable found to predict disease dissemination (p = 0.008 by Cox analysis). A TRVA equal to or greater than 3.9% had 100% sensitivity and 79% specificity in predicting disease dissemination. CONCLUSIONS: Quantification of angiogenesis, through measurement of the TRVA, can help to identify patients with retinoblastoma at high risk for disease dissemination after enucleation.

Detection of human papillomavirus in epithelial lesions of the conjunctiva.

CONTEXT: Many factors like exposure to UV radiation, climatic conditions, genetic predisposition, immunological state and, more recently, the presence of HPV have been implicated in the genesis of some lesions of the conjunctiva, especially the carcinoma. OBJECTIVE: To evaluate the presence of HPV DNA in acquired lesions of the conjunctiva and in normal mucosa. TYPE OF STUDY: Cross-sectional study. SETTING: A public university referral center (the Ophthalmology Service of the A.C. Camargo Hospital - A. Prudente Foundation, São Paulo). PARTICIPANTS: Thirty patients with acquired lesions of the conjunctiva and 60 matched controls (by age and sex) were evaluated in this study, from June 1993 to March 1995. PROCEDURES: The detection of HPV DNA in the normal conjunctiva and in acquired lesions was done by the PCR technique and dot blot hybridization. The material was collected by scraping the normal mucosa and the surface of the lesions. A fragment of fresh frozen tissue and paraffin embedded specimens of each lesion were also included. MAIN MEASUREMENTS: The association between the HPV infection and the presence or absence of conjunctival lesions. RESULTS: Sequences of HPV DNA were detected in 4 of the 31 lesions evaluated (12.9%) and in the healthy mucosa of one individual of the control group (1.6%). HPV type 16 was detected in 2 carcinomas and in the normal mucosa of one individual of the control group. HPV type 11 was demonstrated in 2 papillomas of one patient with lesions in both eyes. CONCLUSIONS: The low frequency of HPV DNA found in the lesions of this sample and the detection of the viral genome in the normal mucosa indicate that there is a weak possibility of association between HPV infection and the carcinoma of the conjunctiva.

Melanoma de coróide: conservaçäo de olhos com placas de cobalto-60 / Choroidal melanoma: eye preservation by cobalt-60 plaque therapy

Säo apresentados os resultados de tratamento de 28 pacientes portadores de malanoma da coróide tratados por braquiterapia com placas de cobalto-60. O tamanho dos tumores variou de 2,1 a 15mm em altura e de 9,0 a 22mm no maior diâmetro basal. Para análise dos resultados os pacientes foram subdivididos em 2 grupos: grupos I, com 19 pacientes portadores de tumores de mais de 8mm em altura; e grupo II, com 9 pacientes portadores de tumores de até 8mm de altura. Os resultados quanto à conservaçäo do globo ocular foram melhores no grupo I (78,9/100) que no grupo II (33,3). Todos os olhos enucleados tiveram confirmaçäo do diagnóstico clínico por anátomo-patológico. Dois pacientes do grupo II foram a óbito. Ambos eram portadores de outros tumores malignos sistêmicos previamente ao diagnóstico do melanoma da coróide. Pode-se questionar as hipóteses de tumor metastático ocular ou de dupla patologia tumoral nesses casos. A complicaçäo ocular mais frequente foi a retinopatia da irradiaçäo (39,3/100) seguida da catarata (28,6/100)

PCR detection of Xbal polymorphism in the human Rb gene of retinoblastoma patients.

Inactivation of the Rb (retinoblastoma) tumor suppressor gene is associated with hereditary and sporadic cases of retinoblastoma and other Rb-related tumors. Early diagnosis and genetic counseling heavily depend on practical methods for the detection of Rb deletions and mutations in high-risk families. Here we report on the use of a pair of primers in polymerase chain reaction (PCR) to amplify a 945-bp fragment from intron 17 of the Rb gene (T.L. McGee, G.S. Cowley, D.W. Yandell and T.P. Dryja, 1990, Nucleic Acid Research, 18: 207). Xbal digestion of the PCR product reveals 2 allelic versions: a single 945-bp fragment (allele 1) or 2 fragments of 315 and 630 bp (allele 2). We used total genomic DNA (blood and tumors) to investigate the power of this PCR-Rb-Xbal-RFLP in the identification of both segregation and loss of heterozygosity of the Rb gene. In one family studied (family 1A) in which 2 generations were affected, it was possible to localize the mutated Rb gene to Xbal-Rb allele 2. The assay of loss of heterozygosity of the Rb gene is available for all Xbal-Rb allele 1-2 individuals, so that analyses may be applied in large scale investigation of the participation of Rb gene in tumor development. We conclude that PCR-Rb-Xbal-RFLP is a practical and powerful tool for oncology research and genetic counseling.

PCR detection of Xbal polymorphism in the human Rb gene of retinoblastoma patients

Inactivation of the Rb (retinoblastoma) tumor suppressor gene is associated with hereditary and sporadic cases of retinoblastoma and other Rb-related tumors. Early diagnosis and genetic counseling heavily depend on practical methods for the detection of Rb deletions and mutations in high-risk families. Here we report on the use of a pair of primers in polymerase chain reaction (PCR) to amplify a 945-bp fragment from intron 17 of the Rb gene (T.L. McGee, G.S. Cowley, D.W. Yandell and T.P. Dryja, 1990, Nucleic Acid Research, 18: 207). Xbal digestion of the PCR product reveals 2 allelic versions: a single 945-bp fragment (allele 1) or 2 fragments of 315 and 630 bp (allele 2). We used total genomic DNA (blood and tumors) to investigate the power of this PCR-Rb-Xbal-RFLP in the identification of both segregation and loss of heterozygosity of the Rb gene. In one family studied (family 1A) in which 2 generations were affected, it was possible to localize the mutated Rb gene to Xbal-Rb allele 2. The assay of loss of heterozygosity of the Rb gene is available for all Xbal-Rb allele 1-2 individuals, so that analyses may be applied in large scale investigation of the participation of Rb gene in tumor development. We conclude that PCR-Rb-Xbal-RFLP is a practical and powerful tool for oncology research and genetic counseling

Effectiveness of genetic counselling. Retinoblastoma.

The authors studied 32 families with 36 RB patients. Among them 24 were sporadic cases; four had recurrence of RB; two had RB plus bone tumour in relatives and two were RB propositi. Two evaluations with an interval from four to 13 years were made. In the first the recurrence risk was informed as high or low. The patients' decisions were evaluated at the second consultation. The authors considered that counselling was negative in more than 50% of cases. For normal parents, prognosis of RB was severe, whereas for RB patients it was mild.

Esterase D assay in Brazilian retinoblastoma families.

The gene related to retinoblastoma (Rb gene) can be considered a model human tumor suppressor gene and was assigned to band 13q14, together with the esterase D (ESD) gene. We studied the ESD activity and phenotype in 40 retinoblastoma patients, 50 unaffected relatives, and 85 nonrelated healthy control individuals. ESD activity from patients is significantly different from that of relatives and control individuals, but there was no significant difference between ESD activity from unaffected relatives and control individuals. Twelve and one-half percent of patients and 4.2% of unaffected relatives with ESD1 phenotype showed a low ESD level. The results showed the importance of ESD studies in all retinoblastoma patients and their relatives.

Age and lateness of referral as determinants of extra-ocular retinoblastoma.

The risk of extra-ocular (EO) vs. intra-ocular disease was evaluated in a retrospective study of 158 consecutive cases of retinoblastoma (age range: birth to 113 months) admitted to the A.C. Camargo Hospital, Brazil, between January 1975 and December 1985. The risk of having EO disease was strongly dependent on the age at diagnosis and lateness of referral. The older the child at first admission the higher the risk of finding EO disease at diagnosis. This association was considerably more pronounced among sporadic unilateral cases. Patients with a history of longer duration of symptoms were more likely to exhibit EO disease than patients seeking medical attention within six months of the onset of the disease. This association seemed to be confounded by the genetic form of the disease as the increase in risk of EO disease appeared later among the germinal cases. Clinical stage and lateness of referral were the variables most associated with the survival experience of patients.

Retinoblastoma: sobrevida atuarial

O trabalho apresenta a sobrevida atuarial de 161 pacientes com retinoblastoma tratados no Hospital A. C. Camargo da Fundaçäo Antonio Prudente - Säo Paulo, quanto ao estádio da doença, sexo, lateraliidade, tratamento prévio a admissäo e período em que foram tratados. Os melhores resultados foram obtidos nos grupos de portadores de tumores intra-oculares, nos casos virgens de tratamento e nos que seguiram protocolos completos

Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.

Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.

Sister chromatid exchange frequency in a retinoblastoma mosaic patient with del(13).

The frequencies of sister chromatid exchange (SCE) were investigated in different cell populations derived from a patient with retinoblastoma and 46,XY/46,XY,del(13) (q12.3q21.2) mosaicism. No differences in spontaneous or mitomycin C-induced SCE were detected between cell populations.

[Progressive extrinsic ophthalmoplegia; case report]. / Oftalmoplegia extrínseca progressiva; registro de um caso.

A case of progressive ophtalmoplegia and ptosis affecting a 12 year old boy is reported. A miopatic pattern was detected by the electromyography, the cerebrospinal fluid showed an increase of the protein content and retinal pigmentary degeneration was detected. This findings call the attention for a more widespread degenerative disorders affecting not only the muscular sistem but other organs as well.