Muscular Abnormalities Research Articles

Diagnosis of Neuropathic vs Myopathic Disease-Reply

In Reply.— Professor Rogoff correctly points out the value of electrodiagnostic testing in the diagnosis of strictly neuropathic vs myopathic disease states. While electrodiagnostic tests may differentiate pathogenesis in some patients with muscle weakness, these tests may not clearly separate those patients with diabetic amyotrophy from those with the multiplicity of neurologic, muscular, and end-plate abnormalities seen in patients with neoplasms. Therefore, use of the provisional term myopathy was justified by the clinical picture of profound proximal muscle weakness in an elderly man with a pancreatic mass. Subsequent events of the hospital course, as described, did not allow for performance of elective muscle biopsy or electromyography. Nevertheless, concern over the presence of an underlying malignant neoplasm would have made tumor search the primary goal, regardless of interpretation of electromyographic pattern.

Immunopathology of skeletal muscle: The value of direct immunofluorescence in the diagnosis of connective tissue disease

Whitaker and Engel in 1972 first described immunoglobulin deposition in muscle biopsy specimens in connective tissue disorders. In order to confirm and extend their observations and in the hope of identifying features that may differentiate skeletal muscle involvement in connective tissue diseases from other neuromuscular diseases, a series of 80 muscle biopsy specimens were examined using direct immunofluorescence. Three distinctive direct immunofluorescence patterns consisting of vascular, sarcolemma-basement membrane, and fiber staining were identified in skeletal muscle biopsy specimens from 35 patients, 31 of whom had a connective tissue disease. A vascular staining pattern showing a granular deposition of immunoglobulin or complement was seen in 15 patients, all of whom had a connective tissue disease. Routine stains generally did not reveal vessel abnormalities. A sarcolemma-basement membrane staining pattern was demonstrated around the sarcoplasmic membrane in 29 cases. Twenty-six of these patients had a connective tissue disease. There was no correlation with inflammation, fiber necrosis, or degree of connective tissue replacement. Fibers staining for immunoglobulin or complement, seen in 14 cases, generally occurred in morphologically normal fibers. Thirteen of these patients had a connective tissue disease. Since the pathologic change in muscle in the collagen vascular diseases often consists of the nonspecific findings of focal fiber necrosis frequently without inflammatory infiltrates, direct immunofluorescence may be useful in the diagnosis and classification of muscle diseases in the collagen vascular disorders. Furthermore, the findings of immunoglobulin deposition either within vessels or within individual muscle fibers suggest that immunological mechanisms may be responsible for muscular abnormalities in the connective tissue diseases.

The study of the intravesicle ureter in primary vesicoureteral reflux (author's transl)

The mechanism of primary vesicoureteral reflux had been investigated by many authors, such as Sampson, Grüber, Stephens, Tanagho and Hutch etc. Recent studies have demonstrated that primary defect for protection of the reflux possibly exists in the trigonal function or intravesical ureter itself rather than the disturbance of the passive flap valve mechanism.In the view points that antireflux operations such as Paquins method which disconnect the trigone and intravesical ureter anatomically and functionally have been in success clinically, the primary factor of the primary reflux might exist in intravesival ureter. For the purpose of confirmation whether the intravesical ureter and the primary vesicoureteral reflux correlate to each other, two studies were performed.1) Serial radiographic observation of the bladder in which two silver clips were placed at the vesical serosal sides of the orifice and the new ureterovesical joint during the Politano-Leadbetter's reim-plantation was done through the full to the empty.The results were that although the trigone did not become shorter as with the normal at the time of status change from the full to the voiding, the intravesical length of the ureter, which was indicated by the two silver clips, was doubled with complete protection of reflux through this procedure.2) Pathohistological studies of the intravesical ureters (intramuscular and submucosal ureters) including the orifice that were obtained at the time of operations were performed with cross or logitudinal sections in 22 ureters of 16 cases (adult, 12 ureters of 7 cases and child, 10 ureters of 9 cases) and 9 ureters as normal controls with H. E., Azan Mallory, PTAH, Heidenhain's ion hematoxylin and elastics van Gieson's stains.The results were as follow; all of normal intravesical ureters showed thick longitudinal muscle fibers extended to a submucosa of an orifice. On the other hand the ureters with reflux showed fibrosis (6 ureters), hypoplasia (9 ureters) and abnormal orientation (4 ureters) of the ureteral musculature with markedly increased connective tissues.From the results of these the normal or nonrefluxing intravesical ureters have elasticity and muscular tension to adapt to the change of vesical capacity or intravesical pressure. Compaired with this it is suspected that the intravesical ureters in primary reflux are in failure of this mechanism like a none elastic rubber tube because of the muscular abnormality and increased fibrous or elastic tisses. Namely this elastic and adaptable intravesical ureteral form will be minimal requirement for an antireflux mechanism although a trigonal function or intravesical ureteral length are important factors. Therefore, in primary reflux, the original intravesical ureter should not be used in ureterovesicoplasty.Also we presented the cases concerning pathohistological forms of the intravesical ureters, intravesical ureteral length and position of an orifice etc. as showing Table 1 and discussed about the personal difference of antirefluxing ability.The other interesting finding was a hollow at the ureterovesical junction during the voiding phase in cases of primary reflux as demonstrated in Figs. 18 and 19. It suggests that this hollow makes proof of the none elastic intravesical ureter in primary vesicoureteral reflux and is useful to determine whether the therapy should be operative or conservative.

Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasono-cardiotomographic study.

Left ventricular scanning by echocardiography and ultrasono-cardiotomography was performed to search the possible muscular abnormality in 9 cases with giant T wave inversion without documented cause. The deeply inverted T wave was more than 1.2 mV (average was 1.63 mV) in the left precordial leads. All the cases had electrocardiographic left ventricular hypertrophy of obscure origin and ischemic episode was absent. Conventional echo beam direction to measure the short axis of the left ventricle disclosed almost normal thickness and movement of both interventricular septum (IVS) and the posterior wasll (PW), so that the report of these cases is frequently within normal limits. However, ultrasono-cardiotomography (sector B scan) disclosed the fairly localized hypertrophy near the left ventricular apex, and conventional echocardiography also revealed the same area of either IVS or PW or both below the insertion of the papillary muscles, when the scanning towards the apex was performed (asymmetrical apical hypertrophy: AAH). Control study of 9 cases with IHSS showed asymmetrical septal hypertrophy (ASH) with almost equally hypertrophied IVS from base to apex. All cases had inverted T waves, but these were of lesser degree. Three cases had relatively deep T wave compatible with those of AAH, and these cases also had the apical hypertrophy of considerable degree (unusual type of IHSS, i.e., intermediate type between AAH and ASH). The close relationship between the depth of the inverted T waves and the Apex/Mid wall thickness ratios suggests that the altered recovery process of the hypertrophied apical musculature is responsible for the giant T wave inversion of heretofore unsolved origin. Until the connective link of AAH to the other forms of hypertrophic cardiomyopathy is disclosed, the cases with such a T wave and the apical hypertrophy may be designated as asymmetrical apical hypertrophy (AAH).

Diverticular disease of the colon among West Malaysians.

SUMMARY 1 Four cases of diverticular disease of the colon, which is known to be rare in this part of the world, were reported and discussed. 2 All four patients were male of advanced age, i.e., 57 years and over. 3 In the case of sigmoid diverticular disease, there was associated muscular abnormality. No such abnormality was seen in the case of diverticulosis of the ascending and transverse colon. 4 One case presented with a vesico-colic fistula with the very rare involvement of the lower right ureter. 5 There was one case of carcinoma in the region of the diverticular disease.

Malignant hyperpyrexia. Further muscle studies in asymptomatic carriers identified by creatinine phosphokinase screening.

The history, clinical presentation, and management of malignant hyperpyrexia are presented. The aetiology seems to be associated with some inherited abnormality which affects the movement and binding of calcium ions in the sarcoplasmic reticulum, sarcoplasm, and mitochondria. Whether this is a primary muscular defect or secondary to some trophic neural influence is yet to be established. The subjects carrying the abnormal trait show evidence of a myopathy which is subclinical in most instances and revealed only by estimation of serum CPK or biopsy. In some families where the myopathy is clinically obvious there may be, in addition, a variety of musculoskeletal abnormalities. A plea is made for routine monitoring of temperature during anaesthesia and for procainamide or procaine to be readily available in all operating theatres. A history of anaesthetic deaths in a family calls for special care, and, if the serum CPK is elevated, suxamethonium and halothane are to be avoided. Families with orthopaedic and muscular abnormalities are at increased risk and should have estimation of serum CPK before surgery. As a bonus of this study it is suggested that serum CPK estimations be used to screen pigs for selective breeding and so eliminate the disease, which causes soft exudative pork.

Muscular abnormality in xeroderma pigmentosum: High resolution light-microscopy and electron-microscopic observations

Two cases of xeroderma pigmentosum and 1 case of the De Sanctis-Cacchione syndrome are presented. Muscle biopsies from all 3 patients showed identical alterations in 1 μ and 600 Å thin sections. The alterations consisted of massive accumulation of glycogen and subsarcolemmal mitochondrial aggregates. No similar lesion in muscle from xeroderma pigmentosum or the De Sanctis-Cacchione syndrome has been reported. A common aetiological mechanism is postulated for the muscle and skin lesions.

Cephalofacial deformities in thalassemia major (Cooley's anemia). A correlative study among 138 cases.

In a study of 138 patients with thalassemia major (homozygous β-thalassemia, Cooley's anemia), 94 presented typical cephalofacial deformities (CFDs) on clinical inspection. The patient's age and duration of clinical symptoms, the degree of anemia, and the age at onset of transfusions are important in determining the development of CFD and are correlated positively with the degree of such changes. Splenectomy performed no later than the age of four years had some beneficial effect against CFD. Cephalofacial deformities irrespective of degree implied no intellectual impairment in the patients studied. The high incidence of a proximal type of muscular disorder, which occurred only in patients with CFD suggests possible common underlying mechanisms for skeletal and muscular abnormalities. Degree of CFD was proportional in severity to several systemic abnormalities characterizing homozygous β-thalassemia.

A study of abnormal muscular patterns in diverticular disease of the colon using the polysiloxane foam enema.

Three-dimensional, functional studies of the left colon using a polysiloxane foam enema have shown that three types of impressions due to muscular contractions are commonly found in the region of the rectum and sigmoid, and that at least two of these are closely associated with the presence of diverticular disease. Each type of abnormality has been defined and its extent and frequency assessed. A tentative mechanism for the development of the main muscular abnormality through muscle thickening and simple sigmoid curves is put forward, and it is suggested that the third type of abnormality may be associated with sphincteric action at the recto-sigmoid junction. The reproducibility of findings on repeated examinations must mean that there is a local anatomical basis for the muscular impressions seen and that such contractions do not represent evanescent peristaltic type activity. Sigmoid resection and myotomy as practised for diverticular disease should eliminate the first type of abnormality in the majority of cases, but it is necessary to carry the operation well distally to ensure this. Neither operation is likely to correct the type III abnormality, and further work is necessary to determine whether this is responsible for some of the symptoms persisting after surgery.

A spectrum of myopathy associated with alcoholism. II. Light and electron microscopic observations.

Article1 September 1967A Spectrum of Myopathy Associated with AlcoholismII. Light and Electron Microscopic ObservationsGEORGE KLINKERFUSS, M.D., VIRGIL BLEISCH, M.D., MARCONI M. DIOSO, M.D., GERALD T. PERKOFF, M.D., F.A.C.P.GEORGE KLINKERFUSS, M.D.Search for more papers by this author, VIRGIL BLEISCH, M.D.Search for more papers by this author, MARCONI M. DIOSO, M.D.Search for more papers by this author, GERALD T. PERKOFF, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-67-3-493 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe occurrence of several types of acute muscular abnormalities in chronic alcoholism, first reported by Hed, Larson, and Wahlgren (1), now is well-known (2-6). Ekbom, Hed, Kirstein, and Astrom (3) and Serratrice, Toga, and Roux (4) have described the clinical and histologic features of a more chronic myopathy in patients with severe alcoholism. However, with the exception of extensive studies of a single patient reported by Douglas, Fewings, Casley-Smith, and West (6), information concerning the ultrastructural features of the skeletal muscle abnormalities associated with alcoholism is lacking.In the preceding paper (7) we described the clinical and laboratory abnormalities found...

Monomelic myopathy. Congenital hypertrophic myotonic myopathy limited to one extremity.

MUSCLE disorders are commonly generalized and usually symmetrical. However, this is a report of a patient with a congenital hypertrophy of muscle and bone confined to one lower extremity. This child has developed impressive myotonia and later weakness confined to the same extremity and now, at age 15, shows no sign of involvement of the other limbs or muscular groups. The muscular abnormality has been proven to be myopathic in nature. There is no clinical nor electromyographic evidence of myopathy in other parts of the body. A search of the literature has not revealed any case similar to the patient to be presented. Report of a Case A 15-year-old French Canadian girl was admitted to The Montreal Children's Hospital for evaluation of hypertrophy of the right lower extremity (Fig 1). She was born after a normal pregnancy and delivery. At birth it was noted that the right lower limb

Recent Studies of Alcoholic Myopathy, Including Electron Microscopy.

Excerpt Several muscular abnormalities exist in alcoholism. Studies reveal biochemical alterations in asymptomatic alcoholic patients, acute myopathies, and a chronic proximal myopathy. We report h...

Abnormalities of the muscular anatomy in the shoulder region of paralysed chick embryos

Chick embryos were paralysed with decamethonium during the time when the wing muscles were being formed by cleavage of the dorsal and ventral premuscle masses of the wing buds. Dosing with the drug was commenced at 5 days of incubation and was continued for periods ranging from 3 days to 1 week. Among the anatomical muscular abnormalities found in the paralysed embryos were various delays or failures of cleavage, a divergence of the proximal moiety of pars scapularis of the triceps away from the humerus, and a tendency for M. coracobrachialis posterior to be split into two portions. Although there were individual differences in details of the anomalies, a generally consistent syndrome of muscular aberrations prevailed throughout the experimental embryos. The results indicate that functional activity is important for the formation of a normal muscular anatomy. The abnormalities associated with paralysis suggest that tensile stresses arising from skeletal growth act in conjunction with those due to neurogenic contractions to influence the orientation of muscle fibres and their grouping to form individual muscles.

Intramuscular nerve endings in muscular dystrophy studied with vital staining

The literature concerning the pathologic changes of the intramuscular nerve fibers in muscular dystrophy is scanty. The common opinion is that lesions in the motor nerve fibers occur during the advanced stage of the disease. The Coers and Woolf (1) intravital staining of nerve fibers with methylene blue has made possible the evaluation of even the most peripheral portion of those fibers. A recent study of nerve endings in some muscular diseases (2) also revealed various abnormalities of nerve fibers in muscular dystrophy. In the present investigation these changes have been further analyzed in a larger biopsy material. Prime attention has been paid to interrelation between various degrees of muscular abnormality, especially fiber atrophy, and morphologic changes of the nerve fibers.

Myxedema with Erb's limb girdle muscular dystrophy. Report of a case with a review of the muscular abnormalities of myxedema.

Several types of muscular abnormality have been reported to be associated with myxedema. The most common of these is pseudomyotonia, or delayed relaxation of the deep tendon reflexes. The association of myxedema and muscular dystrophy of the myotonic type has occasionally been described. It is the purpose of this paper to report a case of the previously undescribed association of myxedema with nonmyotonic muscular dystrophy and to review the muscular abnormalities of myxedema. Report of Case A 67-year-old, white, Polish, male cabinet maker entered Cook County Hospital for the second time on March 11, 1960, because of stasis dermatitis of the legs and weakness of the arms and legs. In the late 1920's the patient noticed prominent varicose veins. There gradually developed dependent stasis dermatitis with ulceration, and slight weakness of his legs. In the mid-1940's he noticed a deepening of his voice and dryness of his skin. In 1948

Arthrogryposis multiplex congenita. Case due to disease of the anterior horn cells.

Introduction Arthrogryposis Multiplex Congenita is a syndrome which is characterized by congenital fixation of multiple joints. A number of associated neuromuscular and skeletal defects have been reported in affected individuals. The syndrome is not rare, and the clinical aspects have been described previously. From the few autopsy studies reported in the literature, it is clear that arthrogryposis may occur in a setting either of anterior horn cell disease or of primary disease of muscle. However, very few critical postmortem studies have been made, and the relationship of neural and muscular abnormalities to the manifest joint deformities poses many intriguing problems. We have had the opportunity to study pathologically a newborn infant with the neural form of arthrogryposis multiplex congenita. We wish to present our case partly because of the scarcity of well-studied autopsy material, but especially because our findings may provide a clue to the relationship between central nervous system

Hereditary absence of spleen in the mouse.

THE ‘luxoid’ mutants of the house-mouse form a small and well-defined group with striking limb-defects. In luxate1 (lx) and luxoid2 (lu) homozygotes hind-legs are often twisted, due to reduction or loss of the tibia and distortion of the fibula with associated muscular abnormalities. The femur may also be shortened and fragmented and even the pubic element of the pelvic girdle may be affected in luxates. The hind-feet may show pre-axial poly- or oligo-dactylism, the fore-feet may also be polydactylous in lu lu mice. Heterozygotes may appear normal or may have pre-axial triphalangy or polydactyly of the hind-feet. There are various other skeletal effects (on the number of presacral vertebrae, etc.) while the urogenital system is also involved in luxate homozygotes, with frequent hydronephrosis and hydroureter.

Report--British Federation against the Venereal Diseases

Delayed gastric emptying can be due to muscular, neural, or humoral abnormalities. In the absence of an identified cause, gastroparesis is labelled as idiopathic. We present the case of a patient with severe idiopathic gastroparesis. Pharmacological approaches failed, as well as reduction in gastric emptying resistance with pyloric injection of botulinum toxin and pyloroplasty. Therefore, subtotal gastrectomy was performed. Histological and immunohistochemical study of the resected specimen showed hypoganglionosis, neuronal dysplasia, and a marked reduction in both myenteric and intramuscular interstitial cells of Cajal. To our knowledge, this is the first time these rare histological findings have been described in a patient with idiopathic gastroparesis.

POPULAR MEDIEVAL OPHTHALMOLOGY

Just as the nineteenth century was closing, J. B. Patella reviewed in Janus ( Archives internationales pour l'histoire de la medecine et la gegraphie medicale ), then in the second year of its career (1897-1898), a little book on the diseases of the eye which is one of the landmarks in the history of ophthalmology. The contents of that volume are rather well known to ophthalmologists generally, and it is surprising to find how much more the physicians of that time knew about diseases of the eye than is generally realized. For instance, the author attributed crosseye to an abnormality of the ocular muscles but said that this muscular abnormality was often due to a distrubance of the nervous system. In some cases the muscles alone were at fault, while in others the nerves were responsible. Evidently he knew something about strabismus and ophthalmoplegia. The author of this little book was

Scientific Serials

THE Journal of Anatomy and Physiology, Normal and Pathological, vol. xiv. Part 3, April.—Prof. Turner, the structure of the comb-like branchial appendages, and of the teeth of the basking shark (Selacke maxima) (with a plate).—Dr. G. Thin, on the ganglion-cells of the elephant's retina.—Dr. J. H. Scott, on the structure of the style in the tongue of the dog.—Dr. A. H. Young, on the anatomy of the Indian elephant.—Dr. C. Creighton, illustrations of the pathology of sarcoma, from cases of subcutaneous cystic tumours (three plates).—Dr. Dreschfeld, on a peculiar form of liver tumour (with a plate).—On a case of cerebellar tumour (with a plate).—Dr. T. Oliver, post-mortem in a case of extreme obesity.—Prof. J. Young, on the head of the lobster (with a plate).—W. S. Richmond, new abnormalities of the arteries of the upper extremity, with a plate.—Dr. R. J. Anderson, abnormal arrangement of the thyroid arteries (with a plate).—On a variety of the mylo-pharyngeus and other unusual muscular abnormalities.—Drs. P. M'Bride and A. Bruce, the pathology of a case of ratal ear-disease (with a plate).—Dr. F. Shepherd, notes on the) dissection of a case of congenital dislocation of the head of the femur.—J. D. Brown, abnormal cystic artery.—Anatomical notes.