Joseph Vorro

Caprine β-Mannosidosis: Clinical and Pathological Features

Beta-mannosidosis, an inherited defect of glycoprotein catabolism associated with deficiency of tissue β-mannosidase and accumulation of Man(β1–4)GlcNAc and Man(β1–4)GlcNAc(β1–4)GlcNAc, appeared in four of 13 offspring of a single pair of clinically normal, related Nubian goats. Neurological examinations revealed that all four affected goats were unable to rise or walk. All had facial dysmorphism, dome-shaped skulls, small palpebral fissures, carpal contractures, hyperextension of the pastern joints, proximal muscle atrophy, intermittent ocular oscillations resembling pendular nystagmus, marked intention tremor, and deafness. With intensive care, three affected kids were hand-reared and then killed at 1, 7, and 21 days of age. Macroscopically, there were paucity of myelin in the cerebral and cerebellar hemispheres and ventricular dilatation. Microscopically, the extent and distribution of cytoplasmic vacuolation, myelin paucity, axonal spheroids, and filamentous expansions were evaluated in the cerebrum, cerebellum, brainstem, spinal cord, and peripheral nerves of the four affected kids and two age-matched, clinically normal kids. Widespread cytoplasmic vacuolation correlated with the previously reported accumulation of oligosaccharides in the brain and kidney and the deficiency of tissue β-mannosidase. β-Mannosidosis, not yet identified in man or other species, is characterized by distinctive neonatal clinical, pathological and biochemical features which differentiate it from the α-mannosidoses and other inherited diseases of glycoprotein catabolism.

Caprine Mucopolysaccharidosis-IIID: Clinical, Biochemical, Morphological and Immunohistochemical Characteristics

Several animal models have been developed for the mucopolysaccharidoses (MPSs), a group of lysosomal storage disorders caused by lysosomal hydrolase deficiencies that disrupt the catabolism of glycosaminoglycans (GAG). Among the MPS, the MPS-III (Sanfilippo) syndromes lacked an animal counterpart until recently. In this investigation of caprine MPS-IIID, the clinical, biochemical, morphological, and immunohistochemical studies revealed severe and mild phenotypes like those observed in human MPS III syndromes. Both forms of caprine MPS HID result from a nonsense mutation and consequent deficiency of lysosomal N-acetylglucosamine 6-sulfatase (G6S) activity and are associated with tissue storage and urinary excretion of heparan sulfate (HS). Using special stains, immunohistochemistry, and electron microscopy, secondary lysosomes filled with GAG were identified in most tissues from affected goats. Primary neuronal accumulation of HS and the secondary storage of gangliosides were observed in the central nervous system (CNS) of these animals. In addition, morphological changes in the CNS such as neuritic expansions and other neuronal alterations that may have functional significance were also seen. The spectrum of lesions was greater in the severe form of caprine MPS HID and included mild cartilaginous, bony, and corneal lesions. The more pronounced neurological deficits in the severe form were partly related to a greater extent of CNS dysmyelination. These findings demonstrate that caprine MPS HID is a suitable animal model for the investigation of therapeutic strategies for MPS III syndromes.

THE USE OF ELECTROMYOGRAPHY FOR SEAT ASSESSMENT AND COMFORT EVALUATION

A need to develop methodologies to obtain objective measurements of the effects of different seat contours on people is evident. In an effort to monitor muscle activity during static postures, eletromyography (EMG) was employed. In an experimental setting, fatigue was induced in back extensor muscles for different seated postures. The resultant EMG signals were then sampled bilaterally for three different vertebral levels and the effects of the different seating systems on posture were evaluated. In preliminary tests involving 4 subjects of similar size and build, utilizing three differently contoured seats findings support the use of EMG to quantify muscular fatique as a viable means of objectively measuring the effects of different seat contours. (A) For the covering abstract of the conference see IRRD 875189.

Multivariate Analysis of Biomechanical Profiles for the Coracobrachialis and Biceps Brachii (Caput Breve) Muscles in Humans

A multivariate analysis of various biomechanical parameters for the muscles coracobrachialis and biceps brachii (caput breve) was conducted for two groups of human subjects while they practiced a skill acquisition task conducted over a period of time and at different subject-to-target distances. Practice at different distances had no effect on either muscle. Comparisons of pre- and post-test data indicated that the biomechanical parameters were altered as a function of practice or increased time spent at the task. A specific statistical comparison of these two morphologically similar muscles indicated significant differences in their response profiles. Lastly, practice had a differential effect on the activity of the two muscles.

Stroboscopic Study of Motion Changes That Accompany Modifications and Improvements in a Throwing Performance

Abstract This study identifies and analyzes the effects of practice on the movement changes of an upper limb while engaged in a novel ball throwing task for accuracy. Eight male university students served as subjects and participated in a training program consisting of 50 throws per day at a target for 20 consecutive days. Information taken from stroboscopic photographs of the first and last days of the practice sessions served as the data for the study. Accounts made each day of the average deviation of the ball about the target center indicated a considerable reduction in throwing error. The motor modifications that accompanied this performance improvement included changes in rate (velocity magnitude) and changes in position (wrist angle). Posttest limb velocity scores were reduced in value from their pretest counterparts. These posttest velocities were also considerably more consistent. Initial posttest limb accelerations were much lower than similar measurements made of the pretest throws. Subsequent ...

Kinematic Measures during a Clinical Diagnostic Technique for Human Neck Disorder: Inter- and Intraexaminer Comparisons

Diagnoses of human musculoskeletal dysfunction of the cervical spine are indicated by palpable clues of a patients structural compliance/noncompliance as this body segment responds to diagnostic motion demands applied by a clinician. This process includes assessments of motion range, motion performance, and changes in tissue responses. However, biomechanical quantification of these diagnostic actions and their reproducible components is lacking. As a result, this study sought to use objective kinematic measures to capture aspects of the diagnostic process to compare inter- and intraexaminer motion behaviors when performing a specific clinical diagnostic protocol. Pain-free volunteers and a group determined to be symptomatic based on a psychometric pain score were examined by two clinicians while three-dimensional kinematic data were collected. Intraexaminer diagnostic motion ranges of cervical lateral flexion and secondary rotations were consistent for each examiner and for each subject group. However, interexaminer comparisons for motion range, secondary rotations, and average velocities yielded consistently larger measures for one examiner for both subject groups (P < 0.05). This research demonstrates that fundamental aspects of the clinical diagnostic process for human neck disorders can be identified and measured using kinematic parameters. Further, these objective data have the potential to be linked to clinical decision making.

Objective Measures Relating Cervical Dysfunction to Clinical Diagnosis and Treatment Effects

The majority of musculoskeletal (MSD) impairments in the cervical (neck) region cannot be determined through MRIs or radiographs but are instead diagnosed through a clinical assessment technique using palpation. Palpatory diagnostic techniques are based on range of motion (ROM), tissue textures, quality of motion (smooth, elastic or bone on bone) and symmetry [1]. However, because scientifically accepted objective measures are not yet available to complement a clinical diagnosis, the documentation of the impairment as well as effects of treatment can be challenging. Thus, the purpose of this research was to explore the use of three-dimensional kinematics as a potential tool for relating movement patterns of the head/neck to clinical diagnosis and documenting treatment effects.Copyright