Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

Erb's type limb-girdle muscular dystrophy (LGMD) was identified and clinically studied in detail in a small community living in the Reunion Island (RI). It was linked to chromosome 15q and related to mutations in the muscle specific calpain 3 gene. A series of cases were afterwards clinically and genetically identified in the French metropolitan community. The phenotype was identical to the RI type in the great majority of cases, although clinical differences were noticed in a few cases. Six different mutations were identified in the RI families, whereas a series of 39 mutations were detected in the French metropolitan families, all different from those present in the RI patients. Phenotype-genotype correlations were attempted in both communities.     

Delimiting ''rural'': implications of an agreed ''rurality'' index for healthcare planning and resource allocation

Apoptosis is known as an active process of cell death forced by radio- and chemotherapy. Therefore, established concepts (terms, therapy schemes) will reflect a picture different from that usually seen, when examined under the apoptotic point of view. Furthermore, the development of new concepts for innovative diagnosis, prognosis and therapy could be accomplished. This is an attempt to reveal actual features of both aspects.     

Exercise tolerance at 4 and 6 ATA

Seven normal male subjects performed 5-min bicycle exercise ranging from 50-100% maximum oxygen uptake at 4 ATA and three were also studied at 6 ATA. At all pressures, the subjects breathed 0.2 ATA O2 plus nitrogen. All subjects were able to perform maximum work at all pressures. No pressure-dependent variations in heart rate, O2 uptake, or CO2 output were noted. At both 4 and 6 ATA, ventilation was decreased at exercise levels greater than 80% maximum O2 uptake. The magnitude of the decrease was not great, however, and signified only minor CO2 retention. In some instances exercise ventilation closely approached the 15-S maximum breathing capacity and these subjects noted severe dyspnea, possibly due to dynamic compression of large airways. In three subjects, respiratory frequency was measured as well as minute ventilation; this relationship did not change with depth. Subjects performing heavy exercise at 6 ATA noted disturbances of consciousness, presumably due to N2 narcosis.     

Effect of length of gestation on maternal cellular immunity to human trophoblast antigens

Maternal lymphocyte reactivity to human trophoblast antigens was studied in placentas of gestational ages 8 to 14 weeks and 32 to 34 weeks, respectively. Significant trophoblast lysis became apparent after 24 hours' incubation in the latter case compared with a time lag of 72 hours in the terminated gestations. Maternal cellular immunity, therefore, was not detected during the first 3 1/2 months of pregnancy, but was detectable by the time of parturition. The possible significance is discussed with respect to the antigenic stimulus and survival of the fetal allograft.