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MRI of rotator cuff muscle atrophy in relation to glenohumeral joint incongruence in brachial plexus birth injury.

PURPOSE: To evaluate rotator cuff muscles and the glenohumeral (GH) joint in brachial plexus birth injury (BPBI) using MRI and to determine whether any correlation exists between muscular abnormality and the development of glenoid dysplasia and GH joint incongruity. MATERIALS AND METHODS: Thirty-nine consecutive BPBI patients with internal rotation contracture or absent active external rotation of the shoulder joint were examined clinically and imaged with MRI. In the physical examination, passive external rotation was measured to evaluate internal rotation contracture. Both shoulders were imaged and the glenoscapular angle, percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the greatest thickness of the subscapular, infraspinous and supraspinous muscles were measured. The muscle ratio between the affected side and the normal side was calculated to exclude age variation in the assessment of muscle atrophy. RESULTS: All muscles of the rotator cuff were atrophic, with the subscapular and infraspinous muscles being most severely affected. A correlation was found between the percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the extent of subscapular muscle atrophy (r(s)=0.45, P=0.01), as well as between its ratio (r(s)=0.5, P P=0.01). Severity of rotator cuff muscle atrophy correlated with increased glenoid retroversion and the degree of internal rotation contracture. CONCLUSIONS: Glenoid retroversion and subluxation of the humeral head are common in patients with BPBI. All rotator cuff muscles are atrophic, especially the subscapular muscle. Muscle atrophy due to neurogenic damage apparently results in an imbalance of the shoulder muscles and progressive retroversion and subluxation of the GH joint, which in turn lead to internal rotation contracture and deformation of the joint.

Adolescent↗

Mapping of the bovine spinal muscular atrophy locus to Chromosome 24.

A hereditary form of spinal muscular atrophy (SMA) caused by an autosomal recessive gene has been reported for American Brown-Swiss cattle and in advanced backcrosses between American Brown-Swiss and many European brown cattle breeds. Bovine SMA (bovSMA) bears remarkable resemblance to the human SMA (SMA1). Affected homozygous calves also show progressive symmetric weakness and neurogenic atrophy of proximal muscles. The condition is characterized by severe muscle atrophy, quadriparesis, and sternal recumbency as result of neurogenic atrophy. We report on the localization of the gene causing bovSMA within a genomic interval between the microsatellite marker URB031 and the telomeric end of bovine Chromosome (Chr) 24 (BTA24). Linkage analysis of a complex pedigree of German Braunvieh cattle revealed a recombination fraction of 0.06 and a three-point lod score of 11.82. The results of linkage and haplotyping analysis enable a marker-assisted selection against bovSMA based on four microsatellite markers most telomeric on BTA24 to a moderate accuracy of 89-94%. So far, this region is not orthologous to any human chromosome segments responsible for twelve distinct disease phenotypes of autosomal neuropathies. Our results indicate the apoptosis-inhibiting protein BCL2 as the most promising positional candidate gene causing bovSMA. Our findings offer an attractive animal model for a better understanding of human forms of SMA and for a probable anti-apoptotic synergy of SMN-BCL2 aggregates in mammals.

Animals↗

[Correlation of morphologic changes between optical coherence tomography and topographic angiography in a case of gyrate atrophy].

PURPOSE: To characterize ultrastrructual changes in atrophic disease of the retina, RPE and choroid as seen with gyrate atrophy using two new diagnostic modalities, optical coherence tomography (OCT) and topographic angiography. PATIENT AND METHOD: OCT images were taken in a patient with pericentral choroidal atrophy using a slit-lamp-adapted OCT system. Ophthalmoscopy, conventional and topographic angiographic findings were correlated to the reflectivity changes as seen on OCT. RESULTS: Areas of chorioretinal atrophy correlated with a loss of reflectivity in the RPE-choriocapillaris complex on OCT. Additionally OCT identified a thinning of the nerve fiber layer. Topographic angiography demonstrated an extensive defect, seen as an area of depression, consistent with a loss of choriocapillaris and larger-sized choroidal vessels. In contrast to conventional angiography, central islands were not found to demonstrate structural intensity, while the midperipheral surrounding area was clearly elevated to physiological levels. CONCLUSION: OCT and topographic angiography provide in vivo insight into morphologic changes within neurosensory retina and choroid caused by pericentral choroidal atrophy.

Choroid↗

Cerebellar atrophy after severe traumatic head injury in children.

OBJECT: The purpose of this study was to describe late neuropathological MRI findings in pediatric severe head injury and to explore the relationship between these lesions and cognitive sequelae. METHODS: Thirteen infants with severe head trauma (Glasgow 6) were included in this investigation. Clinical examination, a battery of tests designed to assess neurophysiological status, and MRI investigations of the brain were obtained in periods ranging between 8 and 20 months after the accident. Hemosiderin deposits, encephalomalacia, and cerebellar atrophy were the most frequent traumatic sequelae. The lesions were located in frontal lobes, the basal ganglia, and the cerebellum. Six patients had cerebellar atrophy associated with frontal or temporal postraumatic lesions. Cerebellar clinical dysfunction was observed in only 3 of these patients. Performance on tests evaluating frontal lobe functions was depressed in 5 of them. CONCLUSIONS: Late MRI after severe head trauma in our pediatric population showed unexpected cerebellar atrophy. Its correlation with prefrontal dysfunction is difficult to confirm because of its association with other parenchymal post-traumatic lesions. Further research involving a larger sample of patients with brain injury of varying severity is in progress, to investigate whether cerebellar atrophy could be a consequence of severe head trauma.

Adolescent↗

The protective effect of dexpanthenol on testicular atrophy at 60th day following experimental testicular torsion.

Despite the prompt diagnosis and treatment of testicular torsion (TT), there are problems with fertility and atrophy after testicular salvage. Dexpanthenol (Dxp) is the biologically active alcohol of pantothenic acid (PA). Dxp is converted to PA in tissues. PA increases the content of reduced glutathione (GSH), Coenzyme A and ATP synthesis in cells. GSH and glutathione-dependent peroxidases (GPX) are the major defense systems against oxidative stress. GPX-4 is the major antioxidant in testicular tissue. However, the activity of GPX-4 appeared and increased only after puberty. We investigated the effect of Dxp on testicular atrophy after TT at the 60th day. Rats were separated randomly into four groups. Group C: control group, group Td: torsion + detorsion, group Sal: torsion + saline + detorsion, group Dxp: torsion + Dxp + detorsion. The left testis was rotated 720 degrees for 2 h. In group Sal, normal saline and in group Dxp, Dexpanthenol were injected intraperitonally, 30 min before detorsion. After 60 days, the testicular weights and volumes were measured. Histopathology of the left testis was evaluated with mean seminiferous tubular diameter (MSTD) and mean testicular biopsy score (MTBS). The left (torsed) testicular weight and volume of groups Td and Sal were significantly lower compared to group Dxp. The MSTD and MTBS of group Td and Sal were significantly lower than group Dxp. Contralateral testicular weight and volume of groups Td, Sal and Dxp had no significant difference compared to the control group. Dxp significantly prevented testicular atrophy after 60 days of TT. Dxp has FDA approval, is safe, cost effective and readily available. Its relevance for clinical trials may especially be for the problem of testicular atrophy catastrophe, seen very frequently following testicular salvage.

Animals↗

Selective thigh muscle atrophy in trans-tibial amputees: an ultrasonographic study.

In trans-tibial amputees, PTB (patellar tendon bearing) prostheses provide almost physiological mobility of the knee joint in the sagittal plane. Nevertheless, there are characteristic adaptations of the knee joint muscles. Myosonography is a suitable method for depicting muscle atrophy and hypertrophy due to muscle dysfunction. The present study was intended to assess anatomical alterations of thigh muscles in trans-tibial amputees wearing a PTB prothesis. Thicknesses and cross-sectional areas of the quadriceps femoris, sartorius, gracilis, semitendinosus and biceps femoris muscles were determined ultrasonographically on both limbs in 17 amputees with a PTB prothesis. The gait was analysed using an optoelectronical system, force plates and surface electromyography of the vastus lateralis and biceps femoris muscles. Quadriceps femoris and sartorius muscles of the amputated extremity exhibited significant atrophy compared with the contralateral limb (reduction of muscle thickness ranged between 11.7% and 30.4%), whereas the gracilis and hamstring muscles were not significantly affected. Even the quadriceps femoris muscle of the non-amputated limb showed a slight atrophy compared with a reference group. Increased echointensities were found predominantly in the quadriceps muscle on the amputated leg. During gait, electromyographical activity within the amputated limb was reduced in the vastus lateralis and increased in the biceps femoris muscle. Even long-term adaptation to PTB prostheses results in characteristic deviation from normal gait. Atrophy occurs in the ventral thigh muscles, predominantly on the amputated leg, whereas the dorsal thigh muscles are hardly affected, probably due to compensatory hyperactivity.

Adolescent↗

Clinical characteristics of frontotemporal patients with symmetric brain atrophy.

In this paper we explored patterns of frontal and temporal asymmetry in frontotemporal dementia (FTD) and tried to isolate clinical correlates associated with asymmetry or lack thereof. Volumes of frontal and temporal lobes, hippocampus and entorhinal cortex were measured using magnetic resonance imaging (MRI) in 10 patients with FTD. Age- and cranial size-specific values were computed through linear regression analysis (W-scores). A subgroup of 3 patients with symmetric frontal and temporal atrophy was identified. When compared to patients with asymmetric atrophy, the former had younger age at onset of the disease (p = 0.02), greater overall frontotemporal (p = 0.02) and greater entorhinal atrophy (p < 0.04). Two of the three patients were apolipoprotein E epsilon4 carriers versus none of the asymmetric patients (p = 0.02). The lack of asymmetry in this small sample of FTD patients was associated with greater brain atrophy, younger age at onset, and presence of the epsilon4 allele of apolipoprotein E. The presence of the epsilon4 allele is consistent with the hypothesis of greater vulnerability of the brain in epsilon4 carriers.

Aged↗

Parapapillary atrophy in the chronic open-angle glaucomas.

BACKGROUND: A study was carried out to evaluate whether parapapillary atrophy varies among different chronic open-angle glaucomas. METHODS: The study included 625 Caucasian patients with primary open-angle glaucoma (POAG), 123 patients with secondary open-angle glaucoma (pseudoexfoliative glaucoma n=86; pigmentary glaucoma n=37), and 481 normal subjects. POAG was differentiated into highly myopic POAG (n=32), juvenile POAG (n=33), focal normal-pressure glaucoma (n=46), "sclerotic POAG" with marked fundus tesselation (n=89), and "ordinary POAG" comprising the remaining POAG eyes (n=425). Color stereo optic disc photographs were morphometrically evaluated. RESULTS: The beta zone of parapapillary atrophy was significantly larger in sclerotic POAG (1.00+/-1.37 mm(2)) than in pseudoexfoliative glaucoma (0.65+/-0.93 mm(2)), pigmentary glaucoma (0.42+/-0.58 mm(2)), ordinary POAG (0.66+/-1.06 mm(2)), and focal normal-pressure glaucoma (0.34+/-0.36 mm(2)). In ordinary POAG, the beta zone was significantly larger than in juvenile POAG (0.33+/-0.72 mm(2)). Compared with all glaucoma groups, the beta zone was significantly the smallest in the normal eyes (0. 18+/-0.57 mm(2)). The alpha zone of parapapillary atrophy was significantly larger in the glaucoma groups than in the normal control group, with no significant difference between the glaucoma groups. The myopic crescent (4.11+/-3.42 mm(2)) present in the highly myopic eyes was significantly larger than the beta zone in any other group. CONCLUSION: The beta zone of parapapillary atrophy varies by a factor of more than 3 between the various types of chronic primary and secondary open-angle glaucomas. This may be important diagnostically and pathogenetically.

Adult↗

Hip, thigh and calf muscle atrophy and bone loss after 5-week bedrest inactivity.

Unloaded inactivity induces atrophy and functional deconditioning of skeletal muscle, especially in the lower extremities. Information is scarce, however, regarding the effect of unloaded inactivity on muscle size and function about the hip. Regional bone loss has been demonstrated in hips and knees of elderly orthopaedic patients, as quantified by computerized tomography (CT). This method remains to be validated in healthy individuals rendered inactive, including real or simulated weightlessness. In this study, ten healthy males were subjected to 5 weeks of experimental bedrest and five matched individuals served as ambulatory controls. Maximum voluntary isometric hip and knee extension force were measured using the strain gauge technique. Cross-sectional area (CSA) of hip, thigh and calf muscles, and radiological density (RD) of the proximal tibial bone were measured using CT. Bedrest decreased (P < 0.05) average (SD) muscle strength by 20 (8)% in knee extension, and by 22 (12)% in hip extension. Bedrest induced atrophy (P < 0.05) of extensor muscles in the gluteal region, thigh and calf, ranging from 2 to 12%. Atrophy was more pronounced in the knee extensors [9 (4)%] and ankle plantar flexors [12 (3)%] than in the gluteal extensor muscles [2 (2)%]. Bone density of the proximal tibia decreased (P < 0.05) by 3 (2)% during bedrest. Control subjects did not show any temporal changes in muscle or bone indices (P > 0.05), when examined at similar time intervals. The present findings of a substantial loss in hip extensor strength and a smaller, yet significant atrophy of these muscles, demonstrate that hip muscle deconditioning accompanies losses in thigh and calf muscle mass after bedrest. This suggests that comprehensive quantitative studies on impaired locomotor function after inactivity should include all joints of the lower extremity. Our results also demonstrate that a decreased RD, indicating bone mineral loss, can be shown already after 5 weeks of unloaded bedrest, using a standard CT technique.

Adult↗

Localization of tissue transglutaminase and N (epsilon)-(gamma) -glutamyl lysine in duodenal cucosa during the development of mucosal atrophy in coeliac disease.

Expression and transamidation activity of tissue transglutaminase (tTG) may be involved in the morphological modifications leading to the mucosal atrophy observed in coeliac disease (CD). We aimed to investigate the localization of tTG within the duodenal mucosa during the development of villous atrophy. The localization and level of expression of N epsilon-(gamma-glutamyl) lysine isopeptides which could reflect the transamidation activity of tTG were also analyzed. tTG and N epsilon-(gamma-glutamyl) lysine were localized using an immunohistochemical technique on duodenal biopsies obtained from 75 patients with CD and 51 subjects with normal mucosa (control group). The number of cases displaying tTG-expressing cells in the basement membrane and lamina propria was significantly higher in CD patients than in the control group. Moreover, the intensity of tTG staining in these areas was higher in CD. In contrast, the number of biopsies with tTG-expressing enterocytes was significantly lower in CD than in the control group. There was no difference in N epsilon-(gamma-glutamyl) lysine between the two populations. Tissue transglutaminase was differently expressed in the various areas of the mucosa according to the stage of atrophy, whereas the localization and the intensity of the labelling of N epsilon-(gamma-glutamyl) lysine isopeptides did not show any modification. The preferential localization in the basement membrane and lamina propria may reflect the involvement of tTG in the development of mucosal atrophy in CD.

Adolescent↗

A clinicopathologic study of autosomal dominant optic atrophy.

Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.

Adult↗

Macular reflexes in optic atrophy.

We investigated the annular reflex of the macula and the foveal reflex in 14 eyes with various degrees of optic atrophy by means of red-free fundus photographs. The patients ranged in age from 13 to 34 years (mean age, 25.9 years). We compared our observations with data obtained from 51 age-matched normal eyes. Optic atrophy was found to be associated with changes in the reflexes of the macular area. Alterations occurred in all eight eyes that had visual acuities of 20/50 or worse. Changes in the annular reflex of the macula were more significant in younger patients (less than or equal to 25 years of age) than in older patients. In the younger group, the annular reflex was blunt, distorted, and fragmented, and showed an irregular extension toward the foveal area, whereas in the old group it showed less specific attenuation. Fading of the foveal reflex was observed in both groups. Changes in the retinal reflexes of these patients result from alterations in the ganglion cell and nerve fiber layer and should be included among the signs of optic atrophy. They can help determine the extent of optic atrophy and can be useful clinical clues in children whose optic disks are difficult to examine. They should not be mistaken for signs of associated primary retinal disorders.

Adolescent↗

Optic atrophy in familial dysautonomia.

We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose visual impairment was associated with optic atrophy. The presence of an optic atrophy in familial dysautonomia is indicative of central nervous system involvement, at least in these cases. Each of these patients was first noted to have visual impairment after the first decade. The late onset of optic atrophy may partly explain its apparent rarity. Since the life span of patients with familial dysautonomia is increasing, optic atrophy may be more commonly recognized in the future.

Adult↗

Geographic atrophy of the retinal pigment epithelium.

We followed the clinical course of 29 eyes with geographic atrophy of the retinal pigment epithelium and identified three phases of the disease through which the eyes progressively evolved. In the initial phase, eyes showed focal discrete areas of atrophy of the retinal pigment epithelium in the parafoveal area. These eyes retained good visual acuity for many years. The second phase was characterized by foveal involvement in which there was a precipitous loss in visual acuity. Foveal involvement included coarse foveal granularity, thinning of the foveal retinal pigment epithelium, increasing encirclement of the fovea with focal areas of atrophy, and minimal macular drusen. The end stage of the disease was a confluent, usually circular, area of atrophy that involved the entire central macula.

Aged↗

Liver atrophy complicating benign bile duct strictures. Surgical and interventional radiologic approaches.

The hepatic atrophy and hypertrophy complex has been described in a selected group of nine patients with benign bile duct stricture. The clinical features common to this group were a high biliary stricture and a long-standing history of cholangitis and intermittent jaundice. A history of multiple surgical procedures and associated vascular damage or portal hypertension is strongly suggestive of the atrophy and hypertrophy complex. The radiologic criteria for the diagnosis of this condition are presented. Computerized tomography and HIDA scintigraphy were valuable as noninvasive means to diagnose lobar liver atrophy. The atrophy and hypertrophy complex described herein poses significant therapeutic problems and demands approaches other than those normally applicable for high biliary strictures. A combined surgical and radiologic approach with additional interventional radiologic procedures may be appropriate in patients in whom hilar anastomosis is difficult or impossible.

Adult↗

Peripheral axotomy induces neurofilament decrease, atrophy, demyelination and degeneration of root and fasciculus gracilis fibers.

We have recently shown that peripheral axotomy by hindlimb amputation in adult cats sequentially results in neurofilament and microtubule decrease and axonal atrophy, myelin wrinkling, myelin remodeling (de- and remyelination), more atrophy and axonal degeneration in proximal sciatic and L7 segmental nerve fibers. The neuropathologic, morphometric and teased fiber alterations in the myelinated fibers (MF) of roots and sampled levels of fasciculus gracilis in groups of adult cats 24 months after hindlimb amputation have now been studied. We found: a severe decrease of neurofilaments, axonal atrophy, myelin wrinkling, de- and remyelination and axonal loss in posterior root axons; that these morphologic abnormalities extended up the fasciculus gracilis in the appropriate territories established from degenerative studies; that the retrograde effect was less severe in ventral root fibers, although atrophy and sprouting were demonstrated here, and that the cellular sequence of retrograde atrophic degeneration of ascending axons was similar to that observed in proximal stump axons. These findings confirm that primary afferent neurons are more vulnerable to axotomy than lower motor neurons and may provide an additional explanation for the poorer functional restoration of sensory than of motor deficit after root compression and in delayed nerve reconnection. Our observations also have important implications for interpretation of neuropathologic alterations in roots and fasciculus gracilis, since the observed features may be secondary to axotomy of peripheral nerve fibers induced by disease and not evidence of a primary derangement.

Amputation, Surgical↗

Myotendinous junction: morphological changes and mechanical failure associated with muscle cell atrophy.

The ultrastructures of the myotendinous junctions of healthy and atrophied twitch fibers from frog semitendinosus muscle are compared. The degree of plasma membrane folding at the junction of these cell types are quantified. The junctional surface area of healthy cells is increased 13.2 times by membrane folding. Calculations indicate that the junctional plasma membrane of these cells bears an average load of 2.6 X 10(4) N X m-2 during maximum isometric tension. The junctional surface area of atrophied cells is similarly increased by a factor of 6.3. The degree of junctional membrane folding does not vary with degree of cell contraction. Ultrastructural findings indicate that mechanical failure of the junction occurs just external to the junctional plasma membrane in atrophied cells. Healthy cells do not exhibit mechanical failure at the junction. These findings suggest that increased stress at the junction is associated with muscle atrophy and may cause failure at the myotendinous junction.

Animals↗

Analysis of mechanical properties of cancellous bone under conditions of simulated bone atrophy.

The mechanical properties of cancellous bone have been shown to depend on bone density and on the anisotropy of the trabecular bone structure. By means of high-resolution quantitative computed tomography (QCT), providing a nominal resolution of 0.17 mm, it became possible to assess both apparent density and trabecular microstructure of intact bones. In order to study the influence of age- and disease-related bone loss on the mechanical properties of cancellous bone, a more phenomenological approach was used to develop a novel bone resorption algorithm, called simulated bone atrophy. The algorithm, which is principally based on constrained Gauss filtration of segmented data volumes, was applied to create derived microstructural models. The mechanical behavior of the cancellous bone can be expressed as a function of the anisotropic bone properties of the microstructural model on the continuum level. To study the influence of bone atrophy on bone strength we compared three models: the originally noninvasively measured bone biopsy and two derived models simulating moderate and pronounced atrophy. For the comparison of the three models, the apparent Young's moduli in the three orthogonal directions were predicted for each model with the help of three-dimensional finite-element analysis. Realistic results for the apparent Young's moduli were found for the tissue moduli chosen. The results suggest that the prediction of anisotropic material properties of cancellous bone based on noninvasive measurements of trabecular microstructures and the application of simulated bone atrophy may be helpful to understand the influence of age- and disease-related bone loss on bone strength.

Atrophy↗