Results 271 to 280 of about 1,155,170 (317)
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Current Neurology and Neuroscience Reports, 2007
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Current Opinion in Neurology, 2001
Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Revue Neurologique, 2013
Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Current Opinion in Neurology, 2005
The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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Journal of the American Academy of Dermatology, 1998
An 80-year-old white woman had a 6-year history of enlarging, intradermal plaques on the distal, volar, and lateral surfaces of the fingers. A biopsy specimen showed whorled, densely aggregated bundles of coarsely thickened collagen within a sparsely cellular papillary and reticular dermis.
S D, Tompkins, N S, McNutt, C R, Shea
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An 80-year-old white woman had a 6-year history of enlarging, intradermal plaques on the distal, volar, and lateral surfaces of the fingers. A biopsy specimen showed whorled, densely aggregated bundles of coarsely thickened collagen within a sparsely cellular papillary and reticular dermis.
S D, Tompkins, N S, McNutt, C R, Shea
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Digital Replantations Distal to the Distal Interphalangeal Joint
Journal of Reconstructive Microsurgery, 1987Microvascular replantations of digits distal to the distal interphalangeal (DIP) joint were reviewed in 33 digits of 29 patients. Twenty-five digits were completely amputated and eight were incompletely amputated. Ten of 33 replants failed and 23 digits survived. Even without venous reconstruction, good results were obtained in Zone I.
K, Suzuki, M, Matsuda
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Clinical Orthopaedics and Related Research, 1979
A recent survey of congenital hand anomalies has revealed that symphalangism of the distal interphalangeal joint is more frequent than had previously been reported. To date, however, only 3 familial pedigrees have been documented in the literature. The family reported in this article had 9 individuals spanning 4 generations affected with symphalangism ...
A A, Halpern +2 more
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A recent survey of congenital hand anomalies has revealed that symphalangism of the distal interphalangeal joint is more frequent than had previously been reported. To date, however, only 3 familial pedigrees have been documented in the literature. The family reported in this article had 9 individuals spanning 4 generations affected with symphalangism ...
A A, Halpern +2 more
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Social Science & Medicine, 2003
This paper considers the spatial dynamics of nurse-patient relationships within hospitals, primarily in the USA, under conditions of organizational restructuring, and situates them within social theoretical perspectives on space. As a human practice to which relationship is considered essential, nursing depends upon sustaining an often taken-for ...
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This paper considers the spatial dynamics of nurse-patient relationships within hospitals, primarily in the USA, under conditions of organizational restructuring, and situates them within social theoretical perspectives on space. As a human practice to which relationship is considered essential, nursing depends upon sustaining an often taken-for ...
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Journal of Neurology, 2000
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
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Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
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Dysphagia, 2012
Distal esophageal spasm (DES) is an uncommon esophageal motility disorder associated with dysphagia and/or chest pain. Its pathophysiology implies an impairment of esophageal inhibitory neural function. Using conventional manometry, DES was defined by the presence of simultaneous esophageal contractions.
Sabine, Roman, Peter J, Kahrilas
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Distal esophageal spasm (DES) is an uncommon esophageal motility disorder associated with dysphagia and/or chest pain. Its pathophysiology implies an impairment of esophageal inhibitory neural function. Using conventional manometry, DES was defined by the presence of simultaneous esophageal contractions.
Sabine, Roman, Peter J, Kahrilas
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