Results 361 to 370 of about 1,790,196 (391)
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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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Congenital ptosis and associated congenital malformations
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2004We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect.
Banu M. Hoşal +2 more
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Congenital Variants and Anomalies of the Aortic Arch.
Radiographics, 2017Congenital variants and anomalies of the aortic arch are important to recognize as they may be associated with vascular rings, congenital heart disease, and chromosomal abnormalities, and can have important implications for prognosis and management.
Kate Hanneman, B. Newman, F. Chan
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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.
Bertrand Fontaine +2 more
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Clinical Orthopaedics and Related Research, 1973
Congenital scoliosis, those scoliotic deformities owing to congenitally anomalous vertebrae, was for many years the least understood of the major causes of scoliosis. This was a result of the wide variety of anomalies, the variable natural history, the poor results of bracing, and the meager correction obtained at surgery.
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Congenital scoliosis, those scoliotic deformities owing to congenitally anomalous vertebrae, was for many years the least understood of the major causes of scoliosis. This was a result of the wide variety of anomalies, the variable natural history, the poor results of bracing, and the meager correction obtained at surgery.
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Congenital heart disease in congenital hemihypertrophy
The Indian Journal of Pediatrics, 1971A hitherto unreported syndrome of severe congenital heart disease in association with congenital hemihypertrophy is described in two children. One of these presented with Fallot’s tetralogy and the other with a large ventricular septal defect. The need for a careful examination of the heart in cases of asymmetry of the two halves of the body is ...
B. N. Dutta +3 more
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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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The Indian Journal of Pediatrics, 1961
1. A case of congenital analgia showing the usual features of biting lips, tongue and repeated traumata, is presented. 2. Notable features are the young age of the patient when analgia was detected, and association of a congenital heart lesion. 3. To our knowledge this is first case report from the Indian subcontinent.
K. P. S. Varma, P. N. Taneja
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1. A case of congenital analgia showing the usual features of biting lips, tongue and repeated traumata, is presented. 2. Notable features are the young age of the patient when analgia was detected, and association of a congenital heart lesion. 3. To our knowledge this is first case report from the Indian subcontinent.
K. P. S. Varma, P. N. Taneja
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Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.
JAMA Neurology, 2017Congenital Zika Virus Infection: Beyond Neonatal Microcephaly To the Editor In their timely description on the major central nervous system lesions caused by Zika virus (ZIKV) congenital infection, Melo et al1 reported on the neuroimaging, laboratory ...
M. Leyser, O. Nascimento
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Congenital Muscular Dystrophy and Congenital Myopathy
CONTINUUM: Lifelong Learning in Neurology, 2019ABSTRACT PURPOSE OF REVIEW Congenital 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.
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