Angelo M. DiGeorge
Temple University
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Featured researches published by Angelo M. DiGeorge.
The Journal of Pediatrics | 1960
Angelo M. DiGeorge; Richard W. Olmsted; Robison D. Harley
Summary 1. Individuals with Waardenburgs syndrome, including the first reported instances in the Negro race, have been presented. 2. This syndrome consists of: A. Lateral displacement of the medial canthi of the eyes and of the lacrimal puncta. B. A hyperplastic, broad nasal root. C. Hyperplasia of the medial portions of the eyebrows. D. Partial or total heterochromia iridum or isochromic, hypoplastic blue irides. E. Congenital deafness or varying degrees of partial deafness. F. White (or gray) forelock. 3. The syndrome is genetically determined and transmitted in an autosomal dominant manner with varying degrees of penetrance of the individual characteristics. 4. Possible additional characteristics of the syndrome have been discussed. These include premature graying of the hair; abnormal depigmentation of the skin; pigmentary changes of the fundi and a characteristic facial appearance. 5. It has been roughly estimated that 2.0 per cent of congenital deafness in the United States may result from this disorder. 6. A summary of the pertinent literature relative to the occurrence of defects of pigmentation and deafness in man and in animals has been presented.
Science | 1965
Leonard Pinsky; Angelo M. DiGeorge
Clinically equivalent doses of hydrocortisone, prednisolone, and dexamethasone have progressively increasing teratogenic activity as judged by their ability to induce cleft palate in the offspring of pregnant mice treated with these drugs during the middle period of gestation. Mole for mole, dexamethasone is at least 300 times more teratogenic than hydrocortisone. The enhanced teratogenicity of dexamethasone probably does not result from its relatively decreased mineralocorticoid activity.
The Journal of Pediatrics | 1966
Leonard Pinsky; Angelo M. DiGeorge
Three mentally retarded children, including 2 siblings, with recurrent episodes of unexplained fever, repeated traumatic and thermal injuries, and self-mutilating behavior are described. Sweating could not be provoked by thermal, painful, emotional, or a variety of chemical stimuli. A defect of the cutaneous sensory mechanism is indicate by their inability to form an axon flare after intracutaneous injection of histamine. Subcutaneous administration of mecholyl or neostigmine, in doses capable of producing lacrimation in normal children, failed to do so in the present patients, despite their occasional ability to lacrimate spontaneously. The disorder exemplified by these patients is compared with other hereditary and congenital causes of insensitivity to pain or deficient sweating. An autosomal recessive mode of inheritance is probable.
The Journal of Pediatrics | 1991
James J. Riviello; Iraj Rezvani; Angelo M. DiGeorge; Catherine M. Foley
Four children with the classic form of maple syrup urine disease (MSUD) died of cerebral edema during an intercurrent infection that caused severe dehydration and acidosis. The diagnosis of MSUD had been established during the neonatal period in all four patients, on day 1 of life in three of them. All were in satisfactory control before the intercurrent illness. Two patients underwent peritoneal dialysis. Signs of brain-stem compression occurred after treatment, when biochemical abnormalities were improving. Computed tomography of the head, which was done in two patients, revealed cerebral edema; one of these patients also had subarachnoid hemorrhage. Autopsy in one case revealed cerebral edema with herniation. Our experience documents that cerebral edema may occur in the older child with MSUD as well as in the neonate. The pathogenesis of cerebral edema in MSUD remains unclear. Early treatment of dehydration and acidosis may prevent the catastrophic consequences that we have observed.
The Journal of Pediatrics | 1962
Victor H. Auerbach; Angelo M. DiGeorge; Robert C. Baldridge; Charles D. Tourtellotte; M. Prince Brigham
Summary A case of histidinemia is described in which the biochemical abnormality can be attributed to a deficiency of the enzyme histidase. As a result of this deficiency, plasma and urinary levels of histidine are markedly elevated. Imidazolepyruvic, imidazolelactic, and imidazoleacetic acids are excreted in the urine in excessive amounts. The presence of imidazolepyruvic acid in the urine is responsible for a positive test with ferric chloride similar to that due to phenylpyruvic acid found in the urine of patients with phenylketonuria. The possibility of a deficiency of urocanase was ruled out by the demonstration of considerable amounts of formiminoglutamic acid in the urine of the patient following administration of urocanic acid.
The Journal of Pediatrics | 1969
Joseph S. Torg; Angelo M. DiGeorge; John A. Kirkpatrick; Modesto Martinez Trujillo
A previously unreported form of idiopathic multicentric osteolysis is described with presumptive recessive transmission in 3 siblings. The clinical disorders of idiopathic osteolysis are described, and a categorical plan for differentiation is proposed.
The Journal of Pediatrics | 1969
Grant Morrow; Lewis A. Barness; Victor H. Auerbach; Angelo M. DiGeorge; Toshyuki Ando; William L. Nyhan
Methylmalonic acidemia and ketotic glycinemia are clinically indistinguishable. Both disorders if untreated are characterized by vomiting, lethargy, failure to thrive, hepatomegaly, ketoacidosis, osteoporosis, neutropenia, and thrombocytopenia. Biochemically, however, they are distinct entities. Glycinemia patients do not excrete methylmalonate, whereas in methylmalonic acidemia massive urinary methylamalonate is an essential finding. Some patients with methylmalonic acidemia are responsive to massive doses of vitamin B 12 .
The Journal of Pediatrics | 1960
C. Charlton Mabry; Angelo M. DiGeorge; Victor H. Auerbach
Summary Two infants with leucine-sensitive hypoglycemia are presented. A standard intravenous leucine tolerance test has been devised and utilized in the study of these 2 infants and of euglycemic and other hypoglycemic children who were not leucine sensitive. The leucine-sensitive children consistently had a decline in blood sugar levels of greater than 50 per cent 20 to 40 minutes after administration of the leucine. The diagnosis of leucine-sensitive hypoglycemia and management of infants who have it are discussed.
The Journal of Pediatrics | 1964
Daniel S. Fleisher; Angelo M. DiGeorge; Lewis A. Barness; David Cornfeld
The histories of 4 infants with cystic fibrosis of the pancreas who developedhypoproteinemia and edema are recorded. Twenty-two additional instances of this clinical pattern have been found in the literature. The majority of these patients had the onset of edema at about 2 months of age, and in the majority of instances their diet consisted either of human milk or a soybean milk preparation. The relationship between CFP and diet and the development of hypoproteinemic edema is discussed.
The Journal of Pediatrics | 1960
C. Charlton Mabry; Angelo M. DiGeorge; Victor H. Auerbach
Summary Two infants with leucine-sensitive hypoglycemia are presented. A standard intravenous leucine tolerance test has been devised and utilized in the study of these 2 infants and of euglycemic and other hypoglycemic children who were not leucine sensitive. The leucine-sensitive children consistently had a decline in blood sugar levels of greater than 50 per cent 20 to 40 minutes after administration of the leucine. The diagnosis of leucine-sensitive hypoglycemia and management of infants who have it are discussed.