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31.
Basel-Vanagaite L Marcus N Klinger G Shohat M Levit O Karmazin B Taub E Sirota L 《American journal of medical genetics. Part A》2003,(2):200-206
We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome. 相似文献
32.
AIM: To evaluate the outcome of triplet versus singleton preterm newborns. METHODS: The study population included 64 sets of preterm triplet (gestational age 25-34 wk) and 64 singleton controls. Data on prenatal and perinatal findings, neonatal complications, duration of hospitalization, and neonatal mortality were collected by chart review. RESULTS: Mothers of triplets were more likely to receive prenatal tocolytic treatment and more antenatal steroids for foetal lung maturation, and to be delivered by caesarean section. No differences were found between the groups in perinatal parameters (cord pH, Apgar score, respiratory support after birth), respiratory parameters (severity of acute and chronic lung disease, use and duration of oxygen treatment and assisted ventilation), or neonatal complications (patent ductus arteriosus, intraventricular haemorrhage, periventricular leukomalacia, necrotizing enterocolitis, retinopathy of prematurity, meningitis, sepsis and jaundice). This was also true for duration of hospitalization and neonatal mortality. No differences were recorded by birth order among the triplets for any of these parameters. CONCLUSION: The study indicates that good prenatal care can lead to a good outcome for preterm triplets, close to that of preterm singleton infants. Families and physicians should consider this information when foetal reduction is offered. 相似文献
33.
Cogenital intracranial hemangioma is rare, and the imaging findings have been described in very few cases. We describe a
case of a huge congenital left parietal hemangioma that was diagnosed postnatally by head duplex ultrasonography. Complete
surgical resection yielded an excellent outcome.
Received: 10 November 2000 Accepted: 13 March 2001 相似文献
34.
The in vitro effect of ibuprofen (IB) on the production of the proinflammatory cytokines interleukin (IL) 1beta, IL-6, and tumor necrosis factor alpha (TNF-alpha) and the anti-inflammatory cytokine IL-10 by cord blood mononuclear cells from preterm newborns was compared to that of peripheral blood mononuclear cells of adults. Mononuclear cells were incubated without or with lipopolysaccharide in the absence or presence of various concentrations of IB. The levels of IL-1beta, IL-6, TNF-alpha, and IL-10 in the supernatants were tested by ELISA. The mononuclear cells from the two groups responded to IB by an increased secretion of IL-6 and TNF-alpha and by a reduced production of IL-10. The pattern of response to the drug was similar following stimulation with lipopolysaccharide. The IL-1beta production was mostly unaffected by IB. It is suggested that in preterm newborns the differences observed in the in vitro proinflammatory cytokine production in response to IB, as observed in the present study, or to indomethacin, as reported previously, may affect various clinical outcomes using these two drugs. 相似文献
35.
CD14 receptor expression and lipopolysaccharide-induced cytokine production in preterm and term neonates 总被引:2,自引:0,他引:2
Bessler H Komlos L Punsky I Ntambi JA Bergman M Straussberg R Sirota L 《Biology of the neonate》2001,80(3):186-192
CD14 expression and the capacity of mononuclear cells (MC) from preterm and term neonates to secrete the proinflammatory cytokines interleukin (IL) 1 beta, tumor necrosis factor alpha and IL-6 in response to lipopolysaccharide (LPS) was investigated and compared to that of adults. MC were incubated with various doses of LPS, and the cytokine level in the supernatants was tested. CD14 receptors on MC and the intensity of their expression were analyzed. MC of preterm and term neonates and adults responded to LPS with low, medium and high proinflammatory cytokine production, respectively. CD14 expression was lowest in preterm infants, intermediate in term infants and highest in adults. The difference between term and preterm neonates for both parameters was significant. The results suggest a possible correlation between the lower expression of CD14 receptor on neonatal cells and the reduced secretion of proinflammatory cytokines by these cells. This decreased production may possibly contribute to the low ability of neonates to develop fever. 相似文献
36.
During locomotion on a flat surface and walking on crosspieces of a horizontal ladder the activity of 56 motor cortex neurons in the cat (5 identified cortico-spinal and 6 cortico-rubral neurons among them) was modulated in the rhythm of steps, i.e. it increased in one phase of a step and decreased in the other. The results of complication of locomotion task by the necessity of putting paws right on the support (fulcrum) while walking on the horizontal ladder were as follows: an increase of average activity of 19 neurons by 60 +/- 8% and a decrease of average activity of 19 neurons by 29 +/- 4%; growth of the modulation depth of 41 neurons (5 cortico-spinal and 6 cortico-rubral neurons) on the average by 68 +/- 19% for CS, 34 +/- 18% for CR and 36 +/- 5% for nonidentified neurons; temporary distribution of activity of 88% neurons in the step cycle while walking on the crosspieces of a horizontal ladder was that of walking on the flat surface. 相似文献
37.
C Nakar G Livny I Levy Z Samra N Linder S Ashkenazi P Livne L Sirota 《The Pediatric infectious disease journal》2001,20(12):1182-1183
A preterm infant, with posterior urethral valves had a mycetoma of the renal pelvis caused by Fusarium species. Prolonged treatment with amphotericin B alone or with flucytosine failed. Combined surgical drainage and medical therapy resulted in full resolution. 相似文献
38.
39.
Six out of 8 healthy first-degree relatives of a patient with systemic lupus erythematosus (SLE) had very high serum levels of a common anti-DNA idiotype (16/6). In this family an additional sister developed SLE, and all members were heterozygous for C4 deficiency. Measurements of common autoantibody idiotypes may contribute to the understanding of the genetics of autoimmune diseases. They might be found useful in detecting healthy subjects prone to the development of an overt clinical state. 相似文献
40.
L Sirota H Bessler Z Weissman F Dulitzky M Djaldetti 《Archives of disease in childhood》1986,61(6):585-588
Platelet count and thrombopoietic activity were investigated in preterm infants at birth and during their first four months of life. Thrombopoiesis stimulating factor activity in cord serum was significantly lower than that of adults and of the respective mothers. No difference was noted between thrombopoietic activity in cord serum in the various gestational ages studied--that is, 24 through 39 weeks. Preterm infants followed during their first four months of life showed a mean platelet count significantly higher than that observed in term infants at the respective age. Furthermore, thrombocytosis was found in premature thriving infants at the age of 1 and 2 months. It is suggested that this thrombocytosis is responsible for the low thrombopoietic activity observed in these infants during their first four months of life. 相似文献