Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis

Oto-Palato-Digital syndrome in four generations of a large family.

A new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression

Embodying functionally relevant action sounds in patients with spinal cord injury

Growing evidence indicates that perceptual-motor codes may be associated with and influenced by actual bodily states. Following a spinal cord injury (SCI), for example, individuals exhibit reduced visual sensitivity to biological motion. However, a dearth of direct evidence exists about whether profound alterations in sensorimotor traffic between the body and brain influence audio-motor representations. We tested 20 wheelchair-bound individuals with lower skeletal-level SCI who were unable to feel and move their lower limbs, but have retained upper limb function. In a two-choice, matching-to-sample auditory discrimination task, the participants were asked to determine which of two action sounds matched a sample action sound presented previously. We tested aural discrimination ability using sounds that arose from wheelchair, upper limb, lower limb, and animal actions. Our results indicate that an inability to move the lower limbs did not lead to impairment in the discrimination of lower limb-related action sounds in SCI patients. Importantly, patients with SCI discriminated wheelchair sounds more quickly than individuals with comparable auditory experience (i.e. physical therapists) and inexperienced, able-bodied subjects. Audio-motor associations appear to be modified and enhanced to incorporate external salient tools that now represent extensions of their body schema

Body image distortions following spinal cord injury

Background: Following spinal cord injury (SCI) or anaesthesia, people may continue to experience feelings of the size, shape, and posture of their body, suggesting that the conscious body image is not fully determined by immediate sensory signals. How this body image is affected by changes in sensory inputs from, and motor outputs to the body remains unclear. Methods: We tested paraplegic and tetraplegic SCI patients on a task that yields quantitative measures of body image. Participants were presented with an anchoring stimulus on a computer screen and told to imagine that the displayed body part was part of a standing mirror image of themselves. They then identified the position on the screen, relative to the anchor, where each of several parts of their body would be located. Veridical body dimensions were identified based on measurements and photographs of participants. Results: Compared to age-matched controls, paraplegic and tetraplegic patients alike perceived their torso and limbs as elongated relative to their body width. No effects of lesion level were found. Conclusions: The common distortions in body image across patient groups, despite differing SCI levels, imply that a body image may be maintained despite chronic sensory and motor loss. Systematic alterations in body image follow SCI, though our results suggest these may reflect prolonged changes in body posture and wheelchair use, rather than loss of specific sensorimotor pathways. These findings provide new insight into how the body image is maintained, and may prove useful in treatments that intervene to manipulate the body image

Fracture with loss of the proximal femur in a child. A case report.

An 8 year old child was involved in a road accident and sustained a large wound in the left groin; radiographs showed a fracture with loss of the proximal femur. After skeletal traction for 80 days, there was bony regeneration of the proximal femur. At 8 months she was able to walk without support and her left leg was 2 cm only shorter than the right

Structural pattern and functional correlations of the long bone diaphyses intracortical vascular system: investigation carried out with China ink perfusion and multiplanar analysis in the rabbit femur.

The intracortical vessel system of the rabbit femur has been studied after perfusion of the vascular tree with a water solution of dye (China ink) with multiplanar analysis. This method utilizes the full depth of field of the microscope objectives focusing different planes of the thick cortex. The microscopic observation even if restricted to a limited volume of cortex allowed to differentiate true 3-D nodes (54.5%) from the superimposition of vessels lying on different planes. The network model with elongated meshes preferentially oriented along the longitudinal axis of the diaphysis in his static configuration is not very different from the vascular anatomy depicted in the 2-D traditional models; however, the semi-quantitative morphometric analysis applied to the former supported the notion of a multidirectional microvascular network allowing change of flow according to the functional requirements. Other peculiar aspects not previously reported were cutting cone loops, blind-end and short-radius-bent vessels, and button-holes figures. The network design and node distribution were consistent with the straight trajectory of the secondary remodeling, with the proximal-to-distal and distal-to-proximal advancement directions of the cutting cones and with two main modes of node formation, namely bifurcation of the cutting cone and interception with pre-existing canals. The general organization of the network and its uninterrupted transformation during bone modeling and remodeling suggested a substantial plasticity of the intracortical vascular system capable to adapt itself to the changeable haemodynamic conditions

Chondrodystrophic dwarfism and multiple malformations in two sisters.

A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters. Only nine cases with similar features have been reported in the literature

Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.

Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.