Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families

Summary During the course of studies to characterize mutations of the CYP17 gene that cause the 17-hydroxylase-deficient form of congenital adrenal hyperplasia we have discovered two ostensibly unrelated Mennonite families in which affected individuals are homozygous for the same mutation. The defect is a four-base duplication in exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 animo acids of cytochrome P450₁₇.     

Gymnodinium aeruginosum (Dinophyta): A blue-green dinoflagellate with a vestigial,anucleate, cryptophycean endosymbiont

Gymnodinium aeruginosum has the usual fine structure of a dinoflagellate but does not seem to contain a well elaborated peduncle or a microtubular basket. Naked cells are surrounded by a single large amphiesmal vesicle. It houses an endosymbiont with typical blue-green cryptophycean chloroplasts (generally only one), cryptophycean starch grains in the periplastidal cytoplasm without a nucleomorph, and two membranes separating the periplastidal cytoplasm from the cryptophycean cytoplasm which contains mitochondria, ER, vesicles and ribosomes, but no eukaryotic nucleus. The endosymbiont is surrounded by a single membrane. Possible ways of the acquisition of the endosymbiont and the problem of the existence of ribosomes within a compartment without nucleus are discussed.Devoted to Prof. Dr.L. Geitler, the Nestor of phycology and endosymbiosis research, on the occasion of the 90th anniversary of his birthday.     

Performance assessment of the Terry Fox jogging prosthesis for above-knee amputees

The Terry Fox jogging (TFJ) prosthesis was developed at Chedoke-McMaster Hospital to alleviate the asymmetric jogging pattern experienced by above-knee amputees when attempting to jog with conventional walking prostheses. This prosthesis features a spring-loaded, telescoping shank designed to eliminate any vaulting action and control the trunk motion during stance. The spring is intended to attenuate the impact forces and release its stored energy at push-off to provide momentum transfer to the jogger. This prosthesis was comprehensively assessed in the gait laboratory, by evaluating the kinematics, energy and power flow patterns of an above-knee amputee jogger wearing the TFJ prosthesis. Included in the assessment is the ability of the prosthesis to satisfy a set of relevant design criteria that have been established from non-amputee jogging patterns. An increased swing phase time for the prosthetic limb and the need to have the knee hyperextended throughout the stance phase contributed to an asymmetric jogging style. The telescoping action did lower the amputee's centre of mass, thereby reducing the vaulting effect. However, the spring only imparted a lifting action to the jogger and the ground reaction forces were double those of a non-amputee jogger. These findings clearly indicate a need to redesign the TFJ prosthesis and are being incorporated in the design of a new physiological jogging prosthesis.     

A three-dimensional musculoskeletal model for gait analysis. Anatomical variability estimates

Three-dimensional coordinates defining the origin and insertion of 40 muscle units, and bony landmarks for osteometric scaling were identified on dry bone specimens. Interspecimen coordinate differences along the anterior-posterior axis of the pelvis and the long bone axes of the pelvis, femur and leg were reduced by scaling but landmark differences along the other axes were not. The coordinates were mapped to living subjects using close-range photogrammetry to locate superficial reference markers. The error of predicting the positions of internal coordinates was assessed by comparing joint centre locations calculated from local axes defining the orientation of segments superior and inferior to a joint. A difference was attributed to: anatomical variability not accounted for by scaling; errors in identifying and placing reference landmarks; the accuracy of locating markers using photogrammetry and error introduced by marker oscillation during movement. Anatomical differences between specimens are one source of error in defining a musculoskeletal model but larger errors are introduced when such models are mapped to living subjects.     

Expression of neural cell adhesion molecule immunoreactivity in hypertrophic myocardium

Myocardial neural cell adhesion molecule (N-CAM) is temporally regulated, being expressed during cardiac morphogenesis and innervation and suppressed in the adult heart. We have investigated the plasticity of N-CAM expression in hypertrophic muscle using the rat model of chronic hypoxia to selectively induce right ventricular hypertrophy over a 14 day time course. Sarcolemmal and intercalated disc N-CAM immunostaining was more extensive in the ventricular myocardium of hypoxic rats compared to normoxic controls. Quantitative assessment of the immunoreactivity in tissue extracts demonstrated a selective increase in the amount of N-CAM immunoreactivity in the hypertrophic myocardium of the right ventricle of rats exposed to hypoxia and this was associated with an increase of the 125 kDa isoform. We conclude that myocardial hypertrophy may be a factor influencing N-CAM expression in the heart and adhesion molecules may have a role in cardiac remodelling.     

Photosynthesis and Chlorophyll Fluorescence Characteristics in Relationship to Changes in Pigment and Element Composition of Leaves of Platanus occidentalis L. during Autumnal Leaf Senescence

The loss of chlorophyll and total leaf nitrogen during autumnal senescence of leaves from the deciduous tree Platanus occidentalis L. was accompanied by a marked decline in the photosynthetic capacity of O₂ evolution on a leaf area basis. When expressed on a chlorophyll basis, however, the capacity for light-and CO₂-saturated O₂ evolution did not decline, but rather increased as leaf chlorophyll content decreased. The photon yield of O₂ evolution in white light (400-700 nanometers) declined markedly with decreases in leaf chlorophyll content below 150 milligrams of chlorophyll per square meter on both an incident and an absorbed basis, due largely to the absorption of light by nonphotosynthetic pigments which were not degraded as rapidly as the chlorophylls. Photon yields measured in, and corrected for the absorptance of, red light (630-700 nanometers) exhibited little change with the loss of chlorophyll. Furthermore, PSII photochemical efficiency, as determined from chlorophyll fluorescence, remained high, and the chlorophyll a/b ratio exhibited no decline except in leaves with extremely low chlorophyll contents. These data indicate that the efficiency for photochemical energy conversion of the remaining functional components was maintained at a high level during the natural course of autumnal senescence, and are consistent with previous studies which have characterized leaf senescence as being a controlled process. The loss of chlorophyll during senescence was also accompanied by a decline in fluorescence emanating from PSI, whereas there was little change in PSII fluorescence (measured at 77 Kelvin), presumably due to decreased reabsorption of PSII fluorescence by chlorophyll. Nitrogen was the only element examined to exhibit a decline with senescence on a dry weight basis. However, on a leaf area basis, all elements (C, Ca, K, Mg, N, P, S) declined in senescent leaves, although the contents of sulfur and calcium, which are not easily retranslocated, decreased to the smallest extent.     

Demethylation of aromatic compounds by strain B10 and complete degradation of 3-methoxybenzoate in co-culture with Desulfosarcina strains

Summary A pure culture presumably of an Acetobacterium sp. from a waste water pond, strain B10, was able to grow with several methoxylated aromatic compounds by demethylation (or demethoxylation) to the corresponding hydroxilated substances. Acetate was formed from the eliminated methyl or methoxy groups and from CO₂. Demethylation of 3-methoxybenzoate occurred simultaneously with glucose or lactate fermentation if induced, methanol-grown cells of strain B10 were used as an inoculum. If 2-vanillin or 2,3-dimethoxybenzaldehyde were supplied as the only carbon sources, these substances were first oxidized to the corresponding benzoic acid derivatives and subsequently demethylated. In mixed cultures of strain B10 and Desulfosarcina variabilis or Desulfosarcina strain DSU3 the 3-hydroxybenzoate formed by strain B10 from 3-methoxybenzoate was completely degraded to acetate and presumably CO₂ by the sulphate reducers. Acetate could be oxidized to CO₂ upon extended incubation. The complete degradation of 3-methoxybenzoate to CO₂ by co-cultures of strain B10 and Desulfosarcina strains seemed to proceed via a commensalistic, rather than via a syntrophic interaction of the participating organisms. Offprint requests to: J. Winter