摘要:

Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia bypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.The intimate developmental relationship between the forebrain and structures of the upper face suggests that alterations of periocular and bony orbital structure and placement may well reflect defects in underlying brain development.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Gastric juice was collected from 27 children for 9 to 21 hr following cardiac surgery, from 4 further children during and following cardiac surgery, and from 3 children who had not undergone surgery. Each sample was analyzed for hydrogen ion and pepsin content. The pH of the postoperative secretions from 26 patients was 1.25 to 5.30, and the mean hydrogen ion concentration was 60.1 mmol/liter (range, 21.5 to 119.3 mmol/liter). The mean peptic activity (83.0 units/ml; range, 42.4 to 158.4 units/ml) was not age related and was significantly higher than that of the basal and pentagastrin-stimulated secretion and similar to that of vagally stimulated secretion of adults with peptic ulcer. The pepsin: hydrogen ion and pepsin 1:total pepsin ratios also resembled those of vagally stimulated secretion. During the first 90 min of cardiac surgery, the pH of aspirated gastric juice was 1.40 to 4.90, the hydrogen ion concentration was 15.8 to 72.3 mmol/liter, peptic activity was 39.2 to 164.0 units/ml (mean, 97.2 units/ml). Pepsin 1 was present in all samples. Aspirates from 3 unoperated children had low total peptic activity and only trace amounts of pepsin 1. Children from the age of 5.5 months thus have the capacity to secrete all the major pepsins, including pepsin 1. The findings suggest that vagal stimulation of gastric secretion was occurring during the postoperative period.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Alveolar macrophages were isolated from three cystic fibrosis patients, and the structure and function of these cells were compared to that of normal alveolar macrophages. The cystic fibrosis (CF) and normal alveolar macrophages were able to phagocytizePseudomonasin the presence of normal serum, but cells from both sources had decreased phagocytosis ofPseudomonasin the presence of CF seram. Phagocytosis ofStaphylococcuswas not inhibited. Ultrastructural studies showed CF macrophages to be morphologically normal, however, in contrast to CF polymorphonuclear cells, they had not been heavily engaged in phagocytosis. The similarities between CF and normal macrophages suggest that the chronic pulmonary infection of CF may be due to an extrinsic factor in an altered lung environment rather than to any intrinsic cellular defect of the alveolar macrophage.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Several properties of a pellet fraction obtained on centrifuging amniotic fluid at 10,000 x g for 20 min were investigated. From these analyses, we defined a developmental profile which appears to describe the maturational process of the fetal lung surfactant system. At 14 to 18 wk gestation, the pellet fraction consisted of membrane-bound vesicles without internal lamellae. The phospholipid composition did not resemble that of surfactant, the major phospholipid being sphingomyelin. This stage, designated as presurfactant, persisted until 30 to 32 wk gestation. After this time, the phospholipid concentration of the pellet fraction increased continuously throughout development, and gradual but continuous changes in phospholipid composition were observed. Lecithin and phosphatidylinositol increased between 39 and 35 wk gestation. Interruption of pregnancies at this stage, termed onset of surfactant synthesis, resulted in 100% incidence of respiratory distress syndrome. From 36 wk gestation to postterm, the pellet fraction contained structures with the characteristic morphology of the lamellar inclusion bodies. The presence of single membrane components in these preparations did not contribute to the phospholipid composition. Early formed lamellar bodies lacked phosphatidylglycerol and had a high content of phosphatidylinositol. Once phosphatidylglycerol appeared in the lamellar body fraction, it continued to increase, accompanied by a decrease in phosphatidylinositol with little change in lecithin. A phosphatidylglycerol value of greater than 1% of the total phospholipids appeared to represent the stage of maturity at which there was no risk of respiratory distress syndrome.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

In the erythrocytes of a patient with the clinical symptoms of galactosemia, a galactose-1-phosphate uridylyltransferase with abnormal kinetics was observed. Under standard assay conditions, the uridylyltransferase activity was almost normal initially and became completely inactivated within 30 min. The abnormal kinetics could be ascribed to a product inhibition by glucose 1-phosphate. The inhibition was produced by a variety of sugar phosphates, the most potent of which proved to be glucose 1-phosphate, mannose 1-phosphate, and fructose 6-phosphate. The variant galactose-1-phosphate uridylyltransferase was further characterized by a lowered affinity towards galactose 1-phosphate, non-Michaelis-Menten kinetics towards UDP-glucose, an increased thermal stability, and complete inactivity upon Cellogel electrophoresis.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Deficiency of hepatic ornithine transcarbamylase (EC 2.1.3.3) activity in a 17-month-old female patient is described. Enzyme activity was 11% of the mean control value. Electron microscopic examination of the liver specimen, taken by percutaneous needle biopsy, revealed striking abnormalities of the mitochondria: budlike projections, sausage-link appearance, elongation with short cristae, or the presence of parallel arrays of tubules. These abnormalities do not resemble those seen in Reye's syndrome.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Intrauterine ligation of the common bile duct was carried out in ten fetal lambs at approximately 80 days gestational age. Six of the fetal lambs survived until term and were sacrificed at varying periods until the 36th day of life. The lesion which developed resembled a “correctable” type of extrahepatic biliary atresia [Kasai type 1 (b)]. The lining epithelium was either totally or incompletely denuded in the blind end of the common duct proximal to the obstruction.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

A prenatal diagnosis of Mucopolysaccharidosis II (M. Hunter) was made early in a pregnancy at risk in a family with one affected child. An affected fetus was diagnosed on the basis of an abnormal incorporation and degradation of35SO4in35SO4-labeled muco-polysaccharides in cultured amniotic cells. Dermatan sulfate and heparin sulfate concentrations in the supernatant of the amniotic fluid were high.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

Studies on the cord serum lipid transport system were initiated to determine whether there is a correlation between decreased cord serum lipid levels and the absence or diminished level of some or all of the human serum apolipoproteins. Immunologic studies indicated the presence of all the well-characterized apolipoproteins and provided evidence that these apolipoproteins occurred primarily as distinct lipoprotein species with a paucity of association complexes or what others have termed “triglyceride-rich” lipoproteins. Quantitation of the apolipoprotens present in cord serum by electroimmunoassay yielded the following mean levels: A-I = 730 mg/liter; A-II = 410 mg/liter; apolipoprotein B = 280 mg/liter, C-I = 59 mg/liter; C-II = 32 mg/liter; C-III = 65 mg/liter; apolipoprotein D = 37 mg/liter; and apolipoprotein E = 85 mg/liter. Levels of C-I, C-II, and apolipoprotein E approached adult levels (83 to 86% of the adult levels), whereas apolipoproteins B and D were most reduced when compared to the adult concentrations, 29 and 37%, respectively. The three other apolipoproteins were present at approximately one-half the levels found in adults.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID

摘要:

To determine if a familial abnormality in the control of breathing might explain the reasons for the sudden infant death syndrome (SIDS), three groups of parents were studied. The first (N= 8 sets of parents) had one infant die of SIDS (one SIDS) whereas the second (N= 6) had a SIDS victim plus a second child with a “near-miss‘’ occurrence (two SIDS). When compared to the third group (controls), these parents demonstrated no abnormality in the ventilatory response to hypoxia or hypercapnia. Similarly, they had normal respiratory frequency, tidal volume, inspiratory time, and arterial blood gas tensions. We conclude that a familial abnormality in breathing control measured during wakefulness is not the basis for SIDS.

ISSN:0031-3998    

出版商:OVID    

年代:1980

数据来源: OVID