Results 271 to 280 of about 856,105 (317)
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Congenital myopathies and congenital muscular dystrophies
Current Opinion in Neurology, 2001Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies.
N, Tubridy, B, Fontaine, B, Eymard
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CONGENITAL CHOLESTEATOMA IN A CASE OF CONGENITAL AURAL ATRESIA
Otology & Neurotology, 2006A congenital cholesteatoma arising in the setting of congenital aural atresia is described. This represents the first case reported in the literature.Case report.Tertiary otologic referral center, University of Virginia Health System, Charlottesville, Virginia.Eight-year-old patient with unilateral congenital aural atresia.Preoperative computer ...
Robert J, Caughey +2 more
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Hematology, 2009
Abstract Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function.
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Abstract Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function.
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Australian and New Zealand Journal of Surgery, 1965
Summary1. A rase of congenital neuroblastonia is reported.2. Forty‐five other cases reported since 19·10 are reviewed.3. Twenty‐six cases (56 per cent.) survived fifteen months or longer without evidence of metastases.4. Of 14 cases arising apart from the adrenals, 13 survived.5.
D C, MACKENZIE, J M, HAM, R S, HYSLOP
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Summary1. A rase of congenital neuroblastonia is reported.2. Forty‐five other cases reported since 19·10 are reviewed.3. Twenty‐six cases (56 per cent.) survived fifteen months or longer without evidence of metastases.4. Of 14 cases arising apart from the adrenals, 13 survived.5.
D C, MACKENZIE, J M, HAM, R S, HYSLOP
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Journal of Pediatric Surgery, 1994
Congenital microgastria is an extremely uncommon dysplasic condition of the newborn stomach. With only 26 well-documented accounts of this anomaly reported in the literature, its treatment and long-term outcome have not been well elucidated. Herein, the authors report on a newborn with multiple congenital anomalies who presented with severe reflux and ...
J C, Hoehner, K, Kimura, R T, Soper
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Congenital microgastria is an extremely uncommon dysplasic condition of the newborn stomach. With only 26 well-documented accounts of this anomaly reported in the literature, its treatment and long-term outcome have not been well elucidated. Herein, the authors report on a newborn with multiple congenital anomalies who presented with severe reflux and ...
J C, Hoehner, K, Kimura, R T, Soper
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Congenital Fibrosarcoma: A Congenital Fibrous Histiocytoma
Pediatric Pathology, 1986Using immunoperoxidase PAP technique in 2 cases of congenital fibrosarcoma, a great number of cells showed positive stain for alpha-1-antitrypsin (A1AT) and alpha-1-antichymotrypsin (A1ACT), both considered to be good histiocytic markers. The ultrastructure in 1 case also provides evidence of histiocytic differentiation.
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Pediatric Annals, 2017
Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
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Congenital hyperinsulinism is a rare disorder that commonly presents in the immediate postnatal period as persistent hypoglycemia. The condition is frequently resistant to medical therapies, and the genetic mutations implicated in the disorder can be predictive of response to therapy.
Elena, Minakova, Alison, Chu
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Congenital Muscular Dystrophy and Congenital Myopathy
Continuum, 2019Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have
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CONGENITAL ABNORMALITIES AND CONGENITAL HYPOTHYROIDISM
The Lancet, 1988J H, Lazarus, I A, Hughes
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