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[Anatomicopathological studies in retinoblastoma].

For a fifteen-years period it has been examined fourteen cases with retinoblastoma, twelve of them have been undifferentiated forms and two cases differentiated forms in rosette, in undifferentiated retinoblastoma has been observed low size cells with poor cytoplasm and big nucleus that occupied near the whole cell; the nucleus to cytoplasm ratio is increased. The cellular density is irregular and most important perivascular. The tumoral parenchyma is condensed in perivascular areas, the tumoral stroma is poor, amorphous or mucinous. The necrosis areas are frequently but very import out in undifferentiated retinoblastoma. The tumoral vascularity is increased. In some cases occur melanin pigment that belong to the pigment epithelium without the existence of tumoral proliferation.

Child, Preschool↗

Fine needle aspiration biopsy in the diagnosis of intraocular mass lesions.

Fine needle aspiration biopsy (FNAB) was done in 5 patients who reported with atypical clinical presentation of intraocular tumour. The procedure was useful in 4 out of 5 cases and was without complications. With close co-operation between ophthalmologist and pathologist, FNAB is an useful adjunct for accurate diagnosis in selected patients.

Adult↗

[History of retinoblastoma].

The author presents a brief account on the development of knowledge regarding the clinical picture, diagnosis, dynamics of the disease, surgical and conservative therapy of the most serious intraocular malignity of child age. He emphasizes the contribution made by different authors, starting in 1597 when Pawius published the first account of an autopsy of a child affected with the tumour. He emphasizes the biological importance, the affection of the optic nerve by the tumour, the vital importance of early enucleation, the importance of distant resection of the optic nerve during removal of the eye and the importance and contribution of conservative treatment for the vital perspective of affected children.

History, 16th Century↗

[Structural features of retinoblastoma].

The authors analyze the pathohistological archives of the Tashkent Research Institute of Ophthalmic Diseases for the years 1985-1994 and their own materials collected in recent years: 44 eyes enucleated for retinoblastoma. The microscopic picture of 44 tumors is as follows: retinoblastoma A in 12 (27.3%) cases, retinoblastoma B in 16 (36.3%), retinoblastoma C in 9 (20.4%), and mixed form in 7 (16%) cases. The total level of retinoblastoma A and B is almost 64%; this condition is positively life-threatening. The authors emphasize the necessity of health education of the population and improvement of primary health care and prophylactic check-ups of preschool children.

Child, Preschool↗

[Masking syndromes in oncology of the pediatric eye].

The author demonstrates in a group of children with histopathologically verified retinoblastoma possible masquerade syndromes which may be an important impediment in diagnosis and adequate causal treatment. From the total number of 92 children the author mentions three pseudouveitic and four haemorrhagic masquerade syndromes. He emphasizes the necessity to know these conditions and the need to concentrate them in specialized departments to improve the biological perspectives of the affected children.

Child, Preschool↗

[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].

OBJECTIVE: To develop a diagnostic test for direct identification of disease-causing mutation in the patients with retinoblastoma and correct prediction of carrier- status in unaffected adults and newborns in the RB kindred. METHODS: Southern blot hybridized by Rb cDNA and other intragenic probes were used to detect big deletions or rearrangements at Rb gene locus. SSCP analysis and direct sequencing of primer-directed enzymatic amplification to identify point mutations as small as a single nucleotide change. RFLPs and VNTRs within the Rb gene were used as genetic markers for haplotype analysis. RESULTS: The probands from 79 RB kindreds were identified to have Rb gene mutation, including 25 somatic mutations and 54 germline mutations (36 new germline mutations, 15 inherited mutations and 3 mosaicisms). The WBC DNAs from their family members were also analyzed for determining origin and carrier of mutation. CONCLUSION: The direct identification of causing- cancer mutations by combining SSCP analysis and direct DNA sequencing showed many advantages than other indirect methods such as haplotype analysis. It can distinguish hereditary RB from nonhereditary RB and identify the unaffected carriers without family history and informes affected family member. This method is helpful in gene diagnosis and genetic counselling.

Adult↗

Parvalbumin, a horizontal cell-associated calcium-binding protein in retinoblastoma eyes.

PURPOSE: To search for differentiation in retinoblastoma toward horizontal cells and retinal neurons other than photoreceptor cells with antibodies to parvalbumin, a horizontal, ganglion, and amacrine cell-associated antigen. METHODS: Fifty formalin-fixed and paraffin-embedded human eyes with an intraocular retinoblastoma and two orbital recurrences were studied using the avidin-biotinylated peroxidase complex method and monoclonal antibody (mAb) PA-235 to parvalbumin. RESULTS: In the retinas of retinoblastoma eyes obtained after birth, horizontal cells at the outer border of the inner nuclear layer and their processes in the inner part of the outer plexiform layer always reacted with mAb PA-235. Immunolabeled ganglion and amacrine cells were found, respectively, in 31 (76%; 95% confidence interval [CI] 60-88) and 15 (37%; 95% (CI 22-53) of the 41 eyes with preserved retinas, whereas bipolar and photoreceptor cells were unlabeled. Undifferentiated and differentiated retinoblastoma cells in all studied specimens were negative for parvalbumin. However, immunopositive horizontal and ganglion cells engulfed by the tumor were present within 36 of the 50 retinoblastomas (72%; 95% CI 58 - 84), which often allowed the tracing of otherwise invisible remnants of former infiltrated retinas. CONCLUSIONS: Parvalbumin is a useful marker for horizontal and ganglion cells in normal and pathologic human retinas, including those entrapped within retinoblastoma. The absence of parvalbumin from tumor cells argues against differentiation similar to that seen in these parvalbumin-positive neurons and subpopulations of amacrine cells from the second trimester onward.

Antibodies, Monoclonal↗

[Electrophoretic determination of aqueous and serum neuron-specific enolase (NSE) in the diagnosis of retinoblastoma].

OBJECTIVE: Neuron-specific enolase (NSE) or isoenzymes containing gamma-enolase are considered valuable in the diagnosis of tumors of neuroectodermal origin. METHOD: We used rapid electrophoretic method on cellulose acetate plate to determine the patterns of enolase isoenzymes in the 21 aqueous humor and 23 serum specimens from 23 patients with retinoblastoma (Rb) and 21 aqueous and 25 serum specimens from 25 control cases to evaluate NSE in the diagnosis of RB. The assay allowed assessment of all three major isoenzymes (alpha alpha, alpha gamma, and gamma gamma), and NSE relative activity and its percentage in the total relative activity of the three enolase isoenzymes were assessed by means of a fluorometer. RESULTS: Aqueous from all patients with Rb contained alpha alpha, alpha gamma, and gamma gamma isoenzymes and presented strong positive, the positive rate of NSE being 100% and its relative activity accounting for 45 +/- 9% of the total relative activity of the 3 enolase isoenzymes; no enolase was detectable in the control aqueous with cataract, glaucoma and Coats's diseases (4 cases), but in two patients with traumatic hyphema alpha alpha band, while the sera faint alpha gamma and gamma gamma presented in the aqueous. The control serum contained only an alpha alpha band, while the sera from patients with RB contained alpha alpha, alpha gamma and gamma gamma bands in 18 of 23 specimens, the positive rate being 78.2%, and only alpha alpha bands in the rest 5 specimens (21.8%). In the patients with Rb, the NSE relative activity and its percentage in the total relative activity of the 3 isoenzymes in serum (36 +/- 9%) were significantly lower than that in aqueous. CONCLUSION: The amounts of NSE significantly in both serum and aqueous from patients with Rb, and the immunoelectrophoretic assay for determination of enolase patterns is valuable in the diagnosis and differential diagnosis of Rb. In addition, the method is rapid, simple and requires only a little among (< 5 microliters) of sample.

Aqueous Humor↗

[The approach of cloned method in a human retinoblastoma cell line SO-Rb50].

PURPOSE: In order to obtain the same characteristic tumor cells in genetical and biological aspect, the cloned human retinoblastoma cell line SO-Rb50 established in our department is reported in this paper. METHOD: SO-Rb50 cells were cloned in multi-well plates. RESULT: Non-rosette Rb cells were successfully cloned while rosette Rb cells failed. CONCLUSION: The result suggested that high differentiated Rb cells were difficult to be cloned.

Clone Cells↗

[Assessment of the toxicity of TAH on the cell lines of SO-Rb50 and SO-Rb70].

PURPOSE: MTT assay was evaluated on cytoxicity for suspension growing cell lines of SO-Rb50 and SO-Rb70, and the toxicity of TAH (the total alkaloid of peqanum harmala L) on the above cell lines was assessed. METHODS: The relationships between cell number and optical density, between optical density and exposure time of MTT, and the stability of formazan crystal solution in MDSO were determined. And the toxicity of TAH on the cell lines of SO-Rb50 and SO-Rb70 in vitro with MTT assay was assessed. RESULTS: There was a direct proportional relationship between the amount of cell number and its optical density; The optical density increased gradully within 12 hours of the MTT incubation time; The stable time of the formazan crystal solved in DMSO was 11 hours. The IC50 values (micrograms/ml) of TAH on SO-Rb50 were 10.66, 4.82 respectively for 48 and 72 hours; and on SO-Rb70 were 6.38, 4.2 respectively for 48 and 72 hours. CONCLUSION: MTT assay can be used for suspension growing cell lines of SO-Rb50 and SO-Rb70: TAH has obvious toxicity to these two cell lines.

Alkaloids↗

[Risks in late diagnosis of retinoblastoma and their prevention].

The study of the therapy of 57 patients with retinoblastoma and their 30-year follow-up a very significant problem of the delayed assessment of the diagnosis in this disease. The age of patients at the point of assessment of the diagnosis was delayed in average for 3 months after the appearance of first symptoms being especially leucocoria and strabismus, in hereditary Rb it yielded 10 months and in non-hereditary 36 months. The study emphasizes the risks of achieving lower therapeutic success rates and higher lethality in patients in very advanced stages of the disease. An improvement in parental care is assumed to represent a significant preventive measure against the late assessment of the diagnosis. The authors suggest an improvement in erudition of regional paediatrists together with fast provision of clinical care with the use of all diagnostic and therapeutic possibilities provided by modern medicine. (Fig. 4, Ref. 6.)

Child↗

Plaque radiotherapy in the management of retinoblastoma.

Retinoblastoma is the most common intraocular malignant tumor in childhood and is radiosensitive. We treated five patients with solitary intraocular retinoblastoma using iodine-125 plaque radiotherapy as a primary procedure. Tumor basal diameters ranged from six to 16 mm and thickness ranged from three to 11 mm. The radiation dose delivered to tumor apex ranged from 3500 to 5000 centigrays. All tumors regressed considerably within a follow-up ranging between seven to 12 months. There was no tumor recurrence or any complications related to plaque brachytherapy within this early period. We concluded that plaque radiotherapy is an effective method in local tumor control and allows eye preservation in patients with retinoblastoma.

Brachytherapy↗