ABSTRACT
In childhood acute lymphoblastic leukaemia there are large interpatient variations in levels of the apoptosis-regulating proteins Bax and Bcl-2, but the molecular basis for this variation is unknown. Point-mutations in bax have been reported in cell lines derived from haematological malignancies. Frameshift mutations, which result in reduced Bax levels, have also been found in colon cancer of the microsatellite mutator phenotype. Bcl-2 overexpression, or gain of function mutations in the open reading frame (ORF) or in the translational repressor, the upstream ORF(uORF) of bcl-2, might also be important in deregulating its function or expression. We have therefore analyzed 21 bone marrow aspirates from untreated childhood acute lymphoblastic leukaemia and 2 from myeloid leukaemia for mutations in box and bcl-2. DNA sequence analysis of the ORFs of bax and bcl-2 and of the uORF of bcl-2 revealed no mutations, despite the large range in expression levels. Thus, mutations within the (u)ORFs of bax and bcl-2 that (in)activate or deregulate Bax and Bcl-2 are infrequent in primary childhood acute leukaemia and do not play a major role in regulation of the encoded proteins in this disease.
Subject(s)
Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Proto-Oncogene Proteins c-bcl-2 , Proto-Oncogene Proteins/genetics , Adolescent , Base Sequence , Bone Marrow/chemistry , Child , Child, Preschool , DNA Mutational Analysis , Genes, bcl-2 , Humans , Infant , Infant, Newborn , Molecular Sequence Data , Mutation , Open Reading Frames , bcl-2-Associated X ProteinSubject(s)
Foot/surgery , Tendon Transfer , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Retrospective Studies , Tendon Transfer/methodsABSTRACT
Current orthopedic practice in surgical procedures involving the foot calls for tourniquet of the lower extremity. It is suggested that tourniquet application at the ankle may be equally effective and less traumatic. An experiment to document the sensorimotor and electrophysiologic changes that occur with the use of the pneumatic ankle tourniquet indicated the feasibility of such a procedure. An ankle tourniquet was applied at 250mmHg for 1 hour on 40 healthy adults divided into 2 groups of 20 each. In group 1 there was no temperature control and in group 2 skin temperature was kept constant at 32C. Sensorimotor evaluations were done clinically and electrophysiologically to include proximal and distal motor latencies, conduction velocities and amplitudes of peroneal and tibial nerves, and sensory latencies and amplitudes of sural and medial plantar nerves at fixed points and at fixed times. Final data show no strong indication of difference in nerve parameter abnormalities between subjects of both groups and suggest that change in different parameters of nerve function during tourniquet application is secondary to ischemia and anoxia rather than to mechanical compression.
