ABSTRACT
A clinical study of patients on the North West Regional Genetic Register with neurofibromatosis type 1 (NF1) identified 523 affected cases from 304 families. In those for whom relevant information was available, 86.7% (383 of 442) had more than six café au lait patches, 83.8% (310 of 370) had axillary freckling, 42.3% (151 of 357) had inguinal freckling, and 63% (157 of 249) had Lisch nodules. Cutaneous neurofibromas were present in 59.4% (217 of 365) and 45.5% (150 of 330) were noted to have subcutaneous tumours. Plexiform neurofibromas were present in 15.3% (80 of 523). A positive family history of NF1 was found in 71.2% (327 of 459) and 28.8% (132 of 459) of affected patients were considered to be the result of a new mutation. Learning difficulties of varying severity occurred in 62% (186 of 300). CNS tumours associated with NF1 were reported in 9.4% (49) of patients, optic gliomas occurring in 25 of these, 4.8% of patients. Some degree of scoliosis was reported for 11.7% (61), 1.9% (10) had pseudoarthrosis, 4.3% (23) had epilepsy, and 2.1% (11) had spinal neurofibromas. Actuarial analyses were carried out for both optic glioma and malignant nerve sheath tumours and the data are presented.
Subject(s)
Neurofibromatosis 1/physiopathology , Adolescent , Adult , Aged , Child , Child, Preschool , England , Female , Head/anatomy & histology , Humans , Infant , Male , Middle Aged , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Pedigree , Pigments, BiologicalABSTRACT
A rapid sampling technique was used to follow nucleoside uptake by Trichomonas vaginalis. The results indicated that nucleoside uptake is biphasic with time. Adenosine, guanosine, and uridine uptake is carrier mediated, transported substrate is rapidly metabolised to nucleotides. Two separate carriers appear to exist, one which transports all nucleosides and a second which transports adenosine, guanosine and uridine. Both carriers have more than one binding site for nucleosides. The first carrier has sites for adenosine and pyrimidine nucleosides, and a separate site for purine nucleosides. The second carrier has a site for adenosine and uridine and a separate site for guanosine. Adenosine uptake could not be completely inhibited by nitrobenzylthionucleosides. The rate of nucleoside uptake by T. vaginalis is sufficient to sustain growth.
Subject(s)
Nucleosides/metabolism , Trichomonas vaginalis/metabolism , Adenosine/metabolism , Adenosine/pharmacology , Animals , Binding, Competitive , Biological Transport , Carrier Proteins/metabolism , Cytidine/pharmacology , DNA/analysis , Dilazep/pharmacology , Guanosine/analogs & derivatives , Guanosine/metabolism , Guanosine/pharmacology , Inosine/pharmacology , Kinetics , RNA/analysis , Thioinosine/analogs & derivatives , Thioinosine/pharmacology , Thionucleosides/pharmacology , Thymidine/pharmacology , Trichomonas vaginalis/genetics , Uridine/metabolism , Uridine/pharmacologyABSTRACT
Addition of physiological concentrations of 20 l-amino acids to the incubation medium facilitates the uptake of copper by liver slices. This effect can be observed in a wide range of initial concentrations of copper in the medium, including the low physiological concentrations. The uptake of copper was not influenced by the addition of sodium lactate or d-glucose to the incubation media. The facilitation of copper uptake by amino acids is abolished under anaerobic conditions. It is not affected by the presence of 2,4-dinitrophenol. The type of transport and its exact mechanism have not been established, but this type of transport does not fulfill the criteria for classification as simple diffusion.
