ABSTRACT
Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.
ABSTRACT
An alternative strategy for cancer treatment is the manipulation of the immune system, denominated cancer immunotherapy. The immunotherapeutical use of cells of the immune system, like dendritic cells (DC), is being explored in different clinical protocols. Recently, we finalized a clinical phase I protocol, for the treatment of malignant melanoma, using DCs loaded with tumor lysates. Our results indicate that the subcutaneous application of DCs do not produce adverse effects. We also observed an increase of tumor specific T lymphocytes precursors in the blood, associated to hypersensitivity reactions (DTH) in 60% of the treated patients. In most cases, an stability in the disease was observed, although without a significant association between vaccination and survival. Additionally, therapies based on Interleukin-2 (IL-2) have been used with relative success in the treatment of some kind of tumors since 1985. However, problems associated to the toxicity of IL-2 still restrict its massive use. Our direct experience with the use of IL-2, indicates that low doses and its subcutaneous application, maintains the beneficial effects for patients, eliminating the adverse effects. Based on the accumulated evidence during last the five years, we decided to implement an optimized clinical protocol, which alternatively combines dendritic cells vaccines with the use of low doses of IL-2 for the reinforcement of the immunological system.
Subject(s)
Humans , Cancer Vaccines , Dendritic Cells/immunology , Immunotherapy , /immunology , Melanoma/therapy , Skin Neoplasms/therapy , Enzyme-Linked Immunosorbent Assay , Cancer Vaccines , Antigens, Neoplasm/immunology , Dendritic Cells/transplantation , Hypersensitivity, Delayed , Immunotherapy/adverse effects , /adverse effects , /therapeutic use , T-Lymphocytes, Cytotoxic/immunology , Melanoma/immunology , Skin Neoplasms/immunology , Pulse Therapy, DrugABSTRACT
Se analizan factores pronósticos en 25 pacientes con carcinoma transicional (CT) de vejiga con un seguimiento mínimo de 2 años. Histológicamente correspondían a 12 tumores grado I, 10 pacientes grado II y 3 grado III. De acuerdo con el estadio eran 11 pacientes estado O, 8 estadio A, 3 estadio C. Se investigó la presencia de gonadotrofina corónica subunidad beta (HCGB) por métodos inmunohistoquímicos, en 18 casos, 8 negativos y 10 positivos y de los isoantígenos de grupo sanguíneo (IGS) en 18, resultando 8 positivos y 10 negativos. La ploidía nuclear fue estudiada con un analizador de imágenes en los extendidos citológicos de los 25 casos, resultando 5 diploides y 20 aneuploides estableciéndose el grado de malignidad el que varió entre 0,100 y 2,689. Se demostró la relación pronóstica adversa de un estadio clínico avanzado y de un grado histológico III, teniendo los I y II una evolución similar entre ellos pero mejor que el grado III. La presencia de HCGB, aneuploidía y grado de malignidad creciente fueron parámetros pronóstico III, teniendo los I y II una evolución similar entre ellos pero mejor que el grado III. La presencia de HCGB, aneuploisía y grado de malignidad creciente fueron parámetros pronósticos desfavorables estadísticamente significativos. Lo mismo ocurrió, pero sin significación estadística para los IGS. Estas determinaciones son de utilidad en la evaluación de CT de vejiga en especial en las lesiones grado histológico bajo