1/31. bone resorption of the mandible in progressive systemic sclerosis.Five of 16 patients with progressive systemic sclerosis were found to have bone resorption at the angle of the mandible. This finding appears to be closely related to the tightness of the skin of the face, atrophy of the masseter and pterygoid muscles, small size of the oral orifice, and a significantly high frequency in blacks. The mandible must therefore be added to the list of those bones that can be resorbed in progressive systemic sclerosis.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/31. Vastus lateralis strain associated with patellofemoral pain syndrome: a report of 2 cases.Muscle strains of the quadriceps group are common, and occur mostly in the rectus femoris. Strains occur most often when muscles are suddenly activated while on stretch, during either eccentric or concentric contraction. We report 2 cases of vastus lateralis strain that occurred in association with clinical histories of patellofemoral pain syndrome. Symptoms described included anterior knee pain associated with prolonged sitting with the knee flexed, and anterior knee pain associated with running, stair climbing, and jumping. These symptoms preceded the acute strain by at least 1 year. These cases emphasize a clinician's need to understand knee biomechanics, and the need to consider the entire kinetic chain when managing pain and injury in an extremity.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
3/31. Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.Clinical and morphological features have been studied in 11 late onset Acid Maltase Deficient (AMD) patients. All patients have been diagnosed on biochemical evidence of acid maltase deficiency on muscle biopsy. Molecular studies showed a heterozygous mutation (IVS1-13 T > G transversion resulting in aberrant splicing) in the GSDII gene, which is the most common mutation in late onset AMD patients. Morphological features in muscle biopsy showed a vacuolar myopathy and golgi apparatus proliferation within fibres. The peripheral areas of autophagic vacuoles were positive for caveolin-3 and dystrophin, documenting an extensive membrane turnover. The ultrastructural study of muscle biopsy showed randomly distributed or isolated vesicles sometimes derived from the golgi apparatus. In subsarcolemmal region, lipofucsin bodies and abnormal mitochondria with crystalline inclusions were observed. Primary and secondary lysosomes were typically filled with glycogen. These data suggest a predominant role of Golgi in vesicle proliferation and extensive intra-fibral membrane remodelling. The pathological changes observed are selective for muscle fibres (mostly in type 1) and for muscle groups (mainly proximal). An attractive hypothesis for the variability of clinical phenotype in adult and infantile onset AMD patients is that in the former, an aberrant transcript of smaller size may have originated from alternative splicing (exon 2 skipping). A residual enzyme activity is detectable in muscle, but the intracellular processing of the enzyme precursor from Golgi to the mature form in lysosomes might be blocked.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/31. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
5/31. Cytoplasmic body and mitochondrial dna deletion.A patient with chronic progressive external ophthalmoplegia (CPEO) who had abundant cytoplasmic bodies in muscle fibers and a deletion of mitochondrial dna is reported. The patient was a 26-year-old male suffering from ophthalmoplegia from age 21. He had a marfanoid skeletal abnormality and perceptive hearing loss, but had neither retinopathy, ataxia, nor dementia. In the mitochondria isolated from the biopsied skeletal muscle, NADH-ubiquinone oxidoreductase activity was slightly decreased, succinate-cytochrome c reductase activity was slightly increased, and cytochrome c oxidase activity remained normal. Southern blot analysis of the muscle dna identified heteroplasmy composed of a normal-sized mitochondrial dna and a mutant mitochondrial dna with a 4.2-kilobase deletion. The PCR plus S1 analysis showed that the deletion extended from nucleotide position 7860 /- 60 to 12,090 /- 70. The histological studies of the biopsied muscle revealed ragged-red fibers and cytochrome c oxidase-negative fibers in 15.7% and 18.6% of the muscle fibers, respectively. Other conspicuous histological change was abundant cytoplasmic bodies surrounded by clusters of abnormal mitochondria. The cytoplasmic bodies were found preferentially in type 1 fibers, and exclusively in cytochrome c oxidase-negative fibers and in ragged-red fibers. Focal existence of cytoplasmic bodies in muscle fibers with abnormal mitochondria suggests that segregated distribution of the abnormal mitochondria with deleted mitochondrial dna is involved in the pathogenesis of cytoplasmic bodies.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/31. Static spinal muscular atrophy causing temporomandibular joint dysfunction.A case of static spinal muscular atrophy is described. The patient presented with temporomandibular joint dysfunction. This case is unusual, not only from the perspective of clinical disease progression, but also that markedly elevated creatine kinase levels were demonstrated. Despite an obvious association of neuromuscular disorders and TMJ disease, reports of primary disorders of muscle and nerve which may predispose to this condition are rare. This case emphasizes the need for careful neuromuscular evaluation in all patients with TMJ dysfunction of nonarticular origin.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
7/31. Neuralgic amyotrophy: an increasingly diverse entity.We describe nine cases of neuralgic amyotrophy whose clinical and electrophysiologic findings suggest lesions of individual peripheral nerves or peripheral nerve branches occurring singly (mononeuropathy) or in various combinations (mononeuropathy multiplex). There were four occurrences of isolated denervation of the pronator teres muscle; four occurrences of anterior interosseous nerve lesions; three occurrences of lateral antebrachial cutaneous nerve lesions; two occurrences of long thoracic nerve lesions; and one occurrence each of a median nerve trunk lesion, a median palmar cutaneous branch lesion, a suprascapular nerve lesion, and an axillary nerve lesion. "Neuralgic" pain was a prominent feature in all cases, and the location of the pain correlated with the location of the nerve lesions. We hypothesize that the specific course of certain nerves (especially their location across joints) selectively exposes them to mild focal trauma that increases their susceptibility to this disease. Whatever the etiology, this entity is considerably more diverse than generally appreciated.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
8/31. Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults.Four cases are presented, with bulbo-spinal muscular atrophy characterised by adult onset and rapid evolution. They belong to a family in which the type of inheritance is probably dominant. Two cases were studied histologically. The most striking feature was the disappearance of neurons in the lower motor nuclei of medulla and of the spinal anterior horns. An electron microscopic study was carried out in one case. Accumulation of neurofilaments was a general characteristic, in addition to the picture of different sized spheroids. The clinical-pathological relationship is discussed.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
9/31. X-linked bulbo-spinal neuronopathy of late onset: sporadic case.We describe a sporadic case of a rare form of X-linked bulbo-spinal neuronopathy (BSN) of late onset. This case emphasizes the importance of recognizing the sporadic cases of this X-recessive disease for genetic counselling.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
10/31. Late effects of poliomyelitis. Part I: Report of five cases.We present five case reports to illustrate the late effects of acute paralytic poliomyelitis occurring many years after recovery. We emphasize the importance of ruling out common medical causes for the symptoms and address the question of a "postpolio syndrome." The cause of progressive muscle weakness 30 to 40 years after recovery from poliomyelitis remains unknown.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
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