Biomedical subjects
Publications and source records attributed to M Pope.
The recent results of Campillo et al. and Mauzerall on the quenching of the fluorescence of chlorophyll a in Chlorella pyrenoidosa as a function of the intensity of the laser excitation pulses are rationalized by applying a model invoking singlet-singlet exciton annihilation.
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Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, oro-facial, auditory and skeletal manifestations. It is genetically and phenotypically heterogeneous with the majority of families having mutations in the gene encoding type II collagen (COL2A1) and exhibiting a characteristic 'membranous' or type 1 vitreous phenotype. More recently a novel mutation in the gene encoding the alpha1 chain of type XI collagen (COL11A1) was reported in a Stickler syndrome pedigree with a different 'beaded' or type 2 vitreous phenotype. In the present study five more families with the type 2 vitreous phenotype were examined for linkage to four candidate genes: COL2A1, COL5A2, COL11A1 and COL11A2. Two families were linked to COL11A1 and sequencing identified mutations resulting in shortened alphal(XI) collagen chains, one via exon skipping and the other via a multiexon deletion. One of the families showed weak linkage to COL5A2 but sequencing the open reading frame failed to identify a mutation. In the remaining two families all four loci were excluded by linkage analysis. These data confirm that mutations in COL11A1 cause Stickler syndrome with the type2 vitreous phenotype and also reveal further locus heterogeneity.
The karyotype of the domestic dog (Canis familiaris) is widely accepted as one of the most difficult mammalian karyotypes to work with. The dog has a total of 78 chromosomes; all 76 autosomes are acrocentric in morphology and show only a gradual decrease in length. Standardization of the canine karyotype has been performed in two stages. The first stage dealt only with chromosomes 1-21 which can be readily identified by conventional G-banding techniques. The remaining 17 autosomal pairs have proven to be very difficult to reliably identify by banding alone. To facilitate the identification of all canine chromosomes, chromosome-specific paint probes have been produced by DOP-PCR from flow-sorted dog chromosomes. Each paint probe has been used for FISH to identify the corresponding chromosome(s), allowing precise identification of all 78 canine chromosomes. The identification of the undesignated 17 autosomal pairs has been agreed upon by the standardization committee during the second stage of their role. Cosmid clones containing microsatellite markers may now be conclusively assigned to their chromosomal origin by simultaneous dual-color FISH with the corresponding paint probe. In this way a collection of chromosome-specific cosmid clones is being constructed, comprising at least one marker per chromosome, which will allow anchoring of existing and future linkage groups to the physical map.
The SIV-macaque system offers the opportunity to study the pathogenesis and immune aspects of a primate retroviral infection in which immunodeficiency also develops, much like HIV infection in humans. Since it is known that human dendritic cells (DCs) are involved in HIV replication, mature cytokine-generated DCs obtained from precursors in the blood and skin-derived DCs were isolated from healthy rhesus macaques and compared with respect to their ability to support SIV infection. Here, it is shown for both skin- and blood-derived DCs that i) virus production depends on both DCs and T cells, ii) this occurs similarly with T cells from blood, skin, spleen, or lymph nodes, and iii) DCs can transmit virus equally to syngeneic and allogeneic T cells. No differences between DCs from skin or blood were observed. Therefore, the easily accessible blood-derived DCs of macaques provide an appropriate population to study the role of DCs in immunodeficiency virus infection.
Bilateral ankle stress testing was performed on 25 subjects in a device which controlled position of the foot and the amount of force applied during the examination. Both inversion testing in the anteroposterior plane and anterior drawer testing in the lateral plane were performed in the same group of symptom-free patients. The reproducibility of the test was demonstrated. Previous history of injury, left vs. right handedness, side and anthropometric measurements did not affect the test. There was no difference in the inversion test between ankles tested in neutral and plantar flexion. In functionally normal ankles, the range of inversion "talar tilt" was 0 to 18 degrees while the maximum of anterior displacement on drawer testing was 3 mm. The effective stiffness of the anterior talofibular ligament was thus computed as 65 +/- 34 N/m. Anterior drawer testing appears to evaluate lateral ligamentous integrity of the ankle more critically than the talar tilt test.
We assessed the isokinetic and isometric strength and power profile of the knees of 37 patients who had a previous grade II sprain (partial tear) of the anterior cruciate ligament. Of the 37 knees, 11 had an isolated partial anterior cruciate ligament rupture and 26 had a partial anterior cruciate ligament rupture combined with a partial medial collateral ligament rupture. The Cybex II isokinetic dynamometer was used in the measurements. Eight years after the injury, the mean strength deficit of the injured knees was minimal when compared with the uninjured side. In the hamstrings of both groups, the relative strength deficit increased significantly with a higher speed of isokinetic movement (P less than 0.05). Compared with the strength parameters (peak torques), the other functional parameters (total work, average power, and peak angular impulse) of the injured knees showed some, but not significantly greater, deficits (hamstrings, 7% to 10%; quadriceps, 4% to 10%). We found that the general thigh muscle function in knees with old grade II sprains of the anterior cruciate ligament appears adequate except in flexion where the strength deficits are significantly greater in higher speeds of isokinetic movement. Therefore, rehabilitation using high-speed flexion (and extension) exercises is recommended.
To determine the ability of prophylactic knee braces to reduce or limit medial collateral and anterior cruciate ligament elongation under dynamic loading conditions, we used cadaveric specimens that had a surrogate soft tissue material that matched the tissue compliance of in vivo contracted muscles. Eight cadaveric specimens were fitted with four prophylactic knee braces and instrumented with Hall Effect Strain Transducers on both the medial collateral and anterior cruciate ligament. Each specimen was mounted in a testing frame while a lateral impact was applied to the knee joint by a pendulum at levels below the injury threshold. Legs were tested at 0 degrees and 30 degrees of knee flexion, both with and without an intact anterior cruciate ligament. The maximum elongation for each ligament was calculated as a percentage of the initial measured length. The addition of a prophylactic knee brace significantly reduced the level of impact force at the point of impact, but this did not result in a significant reduction of anterior cruciate ligament elongation for any test. Although not significant, all braces tested were more effective at reducing medial collateral ligament elongation during a lateral impact with the knee flexion at 30 degrees than at 0 degrees.
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