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Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia
Current Opinion in Endocrinology, Diabetes & Obesity, 2014The purpose of this review is to summarize recent information that has had a significant impact on the laboratory diagnosis and clinical management of newborns with congenital hypothyroidism and congenital adrenal hyperplasia (CAH).An approximate doubling of the incidence rate of congenital hypothyroidism in many parts of the world has been attributed ...
Marvin L, Mitchell +2 more
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A novel congenital myopathy with apoptotic changes
Annals of Neurology, 2000We report on a female child with congenital myopathy with delayed developmental milestones and mental retardation. The most striking pathological finding was the presence of many condensed to fragmented myonuclei. DNA fragmentation was confirmed by the TUNEL method and supported by the ultrastructural characteristics of apoptotic nuclear changes.
K, Ikezoe +7 more
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Changes in astigmatism in children with congenital nystagmus
Graefe's Archive for Clinical and Experimental Ophthalmology, 2005Astigmatism is commonly reported in children with and without nystagmus. In children less than 4 years of age the astigmatism changes from against the rule (ATR) to with the rule (WTR) astigmatism in children without nystagmus. However, little is known about children with congenital nystagmus.
J, Jethani +3 more
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Bone Changes in a Neonate with Congenital Leukemia
Radiology, 1979A rare case of congenital leukemia is described showing prominent bone changes in a neonate.
M J, Silberstein +3 more
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Skeletal changes in congenital fibrinogen abnormalities
Skeletal Radiology, 1980We report an anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae.
R, Lagier +2 more
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Characteristic vitreous changes in congenital cataracts
Vestnik oftal'mologii, 2015To analyze changes and identify specific signs of underdevelopment of the vitreous body in certain types of congenital cataracts.A total of 26 patients (52 eyes) with congenital changes in the lens and vitreous were examined by means of digital spatial ultrasound imaging.On the basis of multiplanar ultrasound examination and three-dimensional virtual ...
S I, Kharlap +3 more
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Congenital and acquired changes in gallbladder form
The American Journal of Digestive Diseases, 1961Apart from the gallbladder diseases caused by inflammation and stone formation, there are also less frequently occurring congential and acquired changes in the form of the gallbladder, the clinical importance of which is still controversial.
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The changing signs of congenital hip dislocation
Journal of Pediatric Surgery, 1977A total of 36 patients (42 hips) with frank congenital hip dislocation were studied. The initial clinical and x-ray signs were evaluated according to the age at which the patient was first seen and treatment started.
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Pathological changes in congenital deafness.
The Laryngoscope, 1972AbstractThe temporal bones of four infants with varying systemic and ear pathologies are described and discussed with reference to the probable effect on hearing and embryogenesis.
L, Bergstrom, W G, Hemenway, I, Sando
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Diagnosis and Management of a Changing Congenital Melanocytic Nevus
SKINmed: Dermatology for the Clinician, 2006A 70‐year‐old man presented with a birthmark on the right upper arm that had been present for as long as he could remember (Figure). His physician had referred him for a dermatology consultation because the lesion had become larger and darker over the past year. What are the next steps in the evaluation and management of this patient?
Daniel, Hoffman, Désirée, Ratner
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