Showing papers by "Boston Children's Hospital published in 1968"

Multifactorial Inheritance Hypothesis for the Etiology of Congenital Heart Diseases The Genetic-Environmental Interaction

Abstract: A systematic investigation into the etiology of congenital heart diseases (CHD) has been undertaken through the testing of four alternative hypotheses. Data was obtained for six common congenital heart lesions from the investigation of familial aggregates, twin studies, and chromosomal evaluations. Animal homologies were also considered in the evaluation of the hypotheses. Hypothesis 1—no genetic basis for the etiology of congenital heart diseases—was tested and rejected. Then in an effort to define the possible genetic basis of congenital cardiovascular malformations hypothesis 2—the genetic basis of CHD is determined by gross chromosomal aberrations—was evaluated by reviewing karyotypes of nonsyndrome CHD patients in the literature as as well as 104 personal cases. Rejection of hypothesis 2 is required by all available evidence. Hypothesis 3—the genetic basis of common isolated congenital heart lesions is determined by single mutant genes—was also tested and rejected. Hypothesis 4—congenital heart disea...

Occurrence of fetoprotein in patients with neoplasms and non-neoplastic diseases

Abstract: Sera from 248 patients, children and adults with various tumors, and from 484 patients with different non-tumorous diseases, were examined for the presence of fetoprotein by immunochemical methods and specific anti-fetal protein antiserum absorbed with serum of adult individuals. The results show that fetoprotein appears in two types of tumors only: 1) in hepatocellular carcinoma, and 2) in malignant undifferentiated teratoma. In other types of neoplasms including embryonal tumors composed of more or less differentiated tissue, as well as in cases of nephroblastoma, sympathicoblastoma, chorionepithelioma and dysgerminoma, fetoprotein was not detected in any patient. Fetoprotein can occur in the first year of life in some patients suffering from hepatitis or some other liver disease. However, its concentration is low and it has a tendency to disappear with the regression of the disease. Fetoprotein was not detected, however, in patients suffering from non-malignant diseases, including hepatitis, after the first year of life. PRESENCE DES PROTEINES FœTALES CHEZ LES CANCEREUX ET LES SUJETS ATTEINTS DE MALADIES NON NEOPLASIQUES On a recherche la presence de proteines fœtales dans le serum de 248 enfants et adultes atteints de diverses tumeurs et de 484 sujets atteints de differentes maladies non neoplasiques; on a utilise a cette fin des methodes immunochimiques et un serum specifique anti-proteines fœtales absorbe par le serum de sujets adultes. Les resultats montrent que ces proteines n'apparaissent qu'avec deux types de tumeurs: 1) epithelioma a cellules hepatiques; 2) teratome malin indifferencie. Dans les autres types de tumeurs, y compris les tumeurs embryonnaires composees de tissu plus ou moins differencie, ainsi que dans les cas de nephroblastome, sympathoblastome, chorio-epitheliome et dysgerminome, on n'a decele de proteines fœtales chez aucun malade. Les proteines fœtales peuvent s'observer au cours de la premiere annee chez certains sujets souffrant d'hepatite ou d'une autre maladie du foie. Toutefois, leur concentration est faible et elles ont tendance a disparaǐtre parallelement a la regression de la maladie. En revanche, on n'a pas decele de proteines fœtales chez les sujets ǎges de plus d'un an qui etaient atteints de maladies non malignes, y compris l'hepatite.

Deficiency of Reduced Nicotinamide-Adenine Dinucleotide Oxidase in Chronic Granulomatous Disease

Abstract: Reduced nicotinamide-adenine dinucleotide oxidase of normal human polymorphonuclear leukocytes has properties that would qualify it as the enzyme responsible for the respiratory burst during phagocytosis. The enzyme was deficient in leukocytes of five patients with chronic granulomatous disease. This lack of adequate reduced nicotinamide-adenine dinucleotide oxidase could be the basis for the metabolic abnormalities characteristic of these leukocytes and for their diminished bactericidal activity.

Spinal osteotomy for congenital kyphosis in myelomeningocele.

Abstract: 1 The management of severe kyphosis of the lumbar spine in association with myelomeningocele is discussed 2 Neonatal spinal osteotomy-resection has been performed in six patients with partial correction of the deformity and a greatly improved ease of closure and healing of the skin defect The severity of lower limb paralysis has been diminished compared with the complete paraplegia that almost always results from conservative management of closure of the defect without osteotomy 3 In an older child who has not had the benefit of neonatal osteotomy and who has complete lower limb paralysis, transverse spinal osteotomy or excision of the prominent laminae and pedicles on each side of the midline makes possible the fitting of apparatus for walking and diminishes the liability to recurrent ulceration of the skin

Electrophysiological Evidence for Visual Suppression prior to the Onset of a Voluntary Saccadic Eye Movement

Abstract: INABILITY to perceive one's own eye movement in a mirror is a common observation. To explain this, Holt1 was the first to propose a central inhibitory mechanism. On the other hand, Dodge2,3 and Woodworth4 claimed that retinal blurring could account for the apparent suppression and pointed out that a blurred image could be seen if the illumination was increased in intensity. Volkman5, using tests for visual acuity and threshold, stated that although vision was not “blanked out” during eye movements, visual recognition and resolution were markedly diminished, as opposed to steady fixation. LaTour6 found that the chance of perceiving a flash three log units above threshold was markedly decreased during the 50 ms before the onset of the voluntary eye movement. He also noted that the chance of flash perception did not return to normal until one or two hundred ms after the onset of eye movement. Zuber, Stark and Forbes7, also using psychophysical methods, confirmed LaTour's observation. They also noted that pupillary response to light decreased about 60–70 ms before the onset of eye movement. Gross, Vaughan and Valenstein8 found that the peak to peak amplitude of the visual evoked response (derived on a signal averaging computer) showed a marked decrease just after the onset of an eye movement and did not return to normal for 100–200 ms. They did not examine the visual evoked responses which occurred before the onset of the voluntary saccade.

C'3 Synthesis in the Human Fetus and Lack of Transplacental Passage

Abstract: Allotypic differences in the third component of complement between mothers and their newborns provided evidence for synthesis of this complement component by the fetus. There was no indication that this protein traversed the placenta. The known low level of C'3 in the neonate was confirmed, and the maternal concentration was found to be significantly elevated.

Renal tumors in the neonatal period.

Abstract: Eight infants with renal tumors diagnosed in the first month of life are presented. Three well-differentiated mesenchymal tumors were studied using angiographic and electron-microscopic techniques in addition to conventional histologic methods. The morphology of these unusual tumors is presented in detail and classification as benign fibromyoma or fibromyomatous hamartoma is defended. An association between renal tumors in the newborn and maternal polyhydramnios is also documented for the first time.

Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia.

Abstract: Summary The clinical and biochemical features of a case of methylmalonic acidemia, a newly described inborn error of metabolism, are reported. The cardinal feature was chronic metabolic acidosis which was controlled by restriction of the protein intake. Periodically, exacerbations with vomiting, dehydration, lethargy, coma, and even peripheral circulatory failure have appeared. The crisis have been induced by trivial acute infections and by overloading with protein. Mild symptoms appeared in the neonatal period, crises after an age of 4 months. When the protein intake was high, there was marked muscular hypotonia, developmental retardation, and neutropenia. When acidosis was controlled by protein restriction and treatment with bicarbonate the baby made marked progress. At 23/12 years of age the development was normal. The patient excreted large amounts of methylmalonic acid in the urine and the blood level was elevated. Other biochemical abnormalities were hyperglycinemia, hyperglycinuria, and hyperlactatemia. The hypothesis that the basic metabolic defect in methylmalonic acidemia and the ketotic type of hyperglycinemia is the same is discussed, as are the similarities between methylmalonic acidemia and infantile lactic acidosis.

Varying prednisone dosage in remission induction of previously untreated childhood leukemia

Abstract: Although prednisone has been effectively used to induce remission in acute leukemia, a controlled exploration of optimal dosage and of intermittent therapy has not been reported. Of 223 previously untreated children 86 received 2 mg/kg in three divided daily doses; 85 received 4 mg/kg in three divided daily doses; 28 received 8mg/kg every other day in a single dose and 24 received 16 mg/kg every fourth day in a single dose. Steroid side effects were minimal in intermittent therapy. The percentage of remissions on these two regimes, however, was significantly lower than on continuous therapy. Bone marrow remissions were found in 21% on 8 mg/kg every other day and 12% on 16 mg/kg every fourth day. Remission rates of 72% and 60%, respectively, were obtained on the 2mg/kg and 4 mg/kg regimens, indicating no significant difference between these two groups. Continuous prednisone therapy appears to be more effective than intermittent dosage regimens in inducing remission in acute childhood leukemia.

Secondary and Apparent Primary Antibody Responses After Group A Streptococcal Vaccination of 21 Children

Abstract: A partially purified M protein, extracted from a mouse-virulent strain of type 3, group A streptococcus, was administered subcutaneously in gradually increasing amounts at weekly intervals to 21 children in a Family Program. Seven children with type 3 bactericidal antibody in prevaccination sera showed a secondary response. Of 14 children with no detectable type 3 bactericidal antibody prior to vaccination, 13 developed definite type 3 antibody during or soon after vaccination. This response appeared to be of the primary variety in at least some of the 13 children because (i) the total incidence of antibody response (20 of 21) was greater than can be accounted for by the documented incidence of clinical and subclinical type 3 infections among children of our Family Program during a period of 14 years, (ii) the response in the 13 children with no detectable antibody prior to vaccination was more delayed than in those showing a definite secondary response, and (iii) on the average, the amount of vaccine needed for a response in these 13 children was 15 to 28 times greater than that required for the secondary response. Local skin reactions were variable among the vaccinated children. Systemic reactions were infrequent and not severe. The giving of multiple injections of partially purified M protein did not seem to cause cutaneous hypersensitivity.