Subject(s)
Neurofibromatosis 1/genetics , Neurofibromin 1/genetics , Spine/pathology , Base Sequence , Blotting, Western , DNA Mutational Analysis , DNA, Complementary/chemistry , DNA, Complementary/genetics , DNA, Neoplasm/chemistry , DNA, Neoplasm/genetics , Family Health , Female , Humans , Male , Neurofibromatosis 1/metabolism , Neurofibromatosis 1/pathology , PedigreeABSTRACT
A wireless system for radiological subspecialist consultation based on a portable personal computer and a GSM cellular phone was tested. A link with secure access to the hospital image network was built. A total of 68 emergency computerized tomography (CT) examinations were transmitted. Transmission time via GSM for a single CT image was 1 min and for a complete head scan was 18 min. The transmitted images were acceptable for final diagnosis in 72% of the cases, the rest being acceptable for preliminary diagnosis. The diagnosis from the transmitted images did not change after a later review of the original images in 97% of cases. The wireless link saved a hospital visit by the senior radiologist in 24% of cases. The results show that a remote consultation link can be built with readily available technology and that the technique is useful in radiological subspecialist consultations for CT images.
Subject(s)
Emergency Treatment , Microcomputers , Teleradiology/methods , Wounds and Injuries/diagnostic imaging , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Sensitivity and Specificity , Teleradiology/instrumentation , Tomography, X-Ray ComputedABSTRACT
We describe a family in which seven members in three generations were affected with a rare spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had café au lait spots, one had several freckles in the axillary area, and two had possible dermal neurofibromas, but iris Lisch-nodules were not present. Other signs of neurofibromatosis types 1 and 2 were absent. A linkage study of the family suggested close linkage to the NF1 locus and excluded it from the NF2 locus. The DNA analysis of histopathologically verified spinal neurofibromas in two patients showed no evidence of LOH at 17q11.2. The findings in the present family, together with those in a family previously described, suggest a clinically distinct form of neurofibromatosis with extensive spinal neurofibromas and café au lait macules, which may be allelic to the NF1 gene.
Subject(s)
Genes, Neurofibromatosis 1/genetics , Genetic Linkage , Neurofibromatosis 1/genetics , Spinal Neoplasms/genetics , Adult , Cafe-au-Lait Spots/genetics , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Neurofibroma/genetics , PedigreeABSTRACT
A patient with type 1 neurofibromatosis was followed up with neuroimaging over a period of 12 years. A spontaneous decrease in the size of a histologically verified pilocytic astrocytoma was documented on serial CT and MR examinations. Subsequent studies showed the development of a lesion in the contralateral hemisphere with mass effect and contrast enhancement. Results of a biopsy disclosed normal brain tissue; follow-up imaging showed a spontaneous decrease in the size of this abnormality.
Subject(s)
Astrocytoma/diagnosis , Brain Neoplasms/diagnosis , Magnetic Resonance Imaging , Neoplasm Regression, Spontaneous , Neoplasms, Multiple Primary/diagnosis , Neurofibromatosis 1/diagnosis , Tomography, X-Ray Computed , Adult , Astrocytoma/pathology , Biopsy , Brain/pathology , Brain Neoplasms/pathology , Follow-Up Studies , Humans , Male , Neoplasms, Multiple Primary/pathology , Neurofibromatosis 1/pathologyABSTRACT
Twenty cases of adenocarcinoma of the urinary bladder were diagnosed and treated at Oulu University Hospital between 1978 and 1991, comprising nine primary adenocarcinomas (three urachal and six non-urachal) and 11 of extravesical origin (six from the colon, four from the prostate and one from the perineal skin). The prognosis for primary adenocarcinoma after radical surgery was relatively favourable during a follow-up of mean 54 months, but extravesical origin carried a high mortality rate. The diagnostic and therapeutic aspects are discussed.
