Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.
Precioso AR, Sakae PPO, Mascaretti RS, Kubrusly FS, Gebara VCBC, Iourtov D et al. Analysis of the immunogenicity and stability of a porcine pulmonary surfactant preparation administered in rabbits. Clinics. 2006;61(2):153-60. PURPOSE:To study the immunogenicity and the stability of the porcine pulmonary surfactant preparation produced by the Instituto Butantan. METHOD: Immunogenicity assay: Sixteen New-Zealand-White rabbits (1000 g body weight) were divided into 4 study groups. Each group was assigned to receive either a) Butantan surfactant, b) Survanta ® (Abbott Laboratories), c) Curosurf ® (Farmalab Chiesi), or d) no surfactant. The surfactants were administered intratracheally, and the animals were collected immediately before and 60 and 180 days after surfactant administration. Sera were assayed for the presence of antisurfactant antibodies by enzymelinked immunosorbent assay (ELISA). Stability assay: The Butantan surfactant used in this assay had been stored for one year in the refrigerator (4 to 8 o C) and its stability was evaluated in distinct assay conditions using a premature rabbit model. RESULTS: Immunogenicity assay: None of the surfactants analyzed triggered antibody immune responses against their components in any of the animals. Stability assay: The results of this study demonstrate that Butantan surfactant was as effective as Curosurf when both were submitted to the adverse circumstance of short-and long-term storage at room temperature. A similar level of efficacy for the Butantan surfactant, as compared to Curosurf was demonstrated by the pulmonary dynamic compliance, ventilatory pressure, and pressure-volume curve results. CONCLUSION: The results of our study demonstrate that Butantan surfactant may be a suitable alternative for surfactant replacement therapy.
Background: The function of exogenous pulmonary surfactant depends of an adequate stability of its components, a highly complex mixture of lipids (mainly phospholipids) and two hydrophobic polypeptides, SP-B and SP-C. This composition could become instable with long time surfactant storage. The Butantan Institute (Brazil) produced a new porcine pulmonary surfactant preparation composed mainly of 76% of phosphatidylcholine (30 -35% of the phosphatidylcholine is saturated dipalmitoyl phosphatidylcholine), 6 -8% of phosphatidyllethanolamine, 6% of phosphatidylinositolϩphosphatidylserine, and 4 -6% of sphingomyelin, with 5.6% of two hydrophobic polypeptides, SP-B and SP-C. The objective of this study was to evaluate the Butantan exogenous surfactant function one year after its production, using the premature rabbit model.Methods: 16 New Zealand White premature rabbits were delivered by c-section at 27 days gestation and randomized into two study groups according to the type of surfactant treatment: Butantan surfactant (nϭ8, animals treated with Butantan surfactant kept in refrigerator at 4o C for one year), and Curosurf (Farmalab-Chiesi) group (nϭ8; surfactant used 4 months after its production). Animals were ventilated with a preset tidal-volume of 8 ml/kg for 15 minutes, using a ventilator-pletismograph system with the following ventilator settings: respiratory rate (RR), 60 cycles/min; FiO2, 0.21; peak inspiratory pressure (PIP) needed to acquire the target tidal-volume ( 8 ml/kg); PEEP, 0 cmH2O; inspiratory and expiratory time, 0.5 seconds. Ventilatory pressure (VPϭPIP-PEEP), tidal-volume (TV), and dynamic compliance (DCϭTV/VP) were recorded each five minutes until sacrifice. Statistical analysis was performed by t-test. Significance level was set at 0.05.Results: Conclusion:The Butantan surfactant showed to be as effective as a newly synthesized Curosurf to treat respiratory distress syndrome in the premature rabbit model, one year after storage at 4°C in refrigerator. Background:Endogenous nitric oxide (NO) production increases in perinatal asphyxia and inflammatory processes. Histological lesion (necrosis and/or apoptosis) secondary to hypoxic-ischemic (H-I) injury appears in several hours after the insult but biological markers appear earlier. In our previous studies (1,2) we have observed early changes in cerebral blood flow and in O2-uptake. Aim: To study the early changes of serum NO concentration in a model of perinatal asphyxia induced by prolonged umbilical cord clamping in premature lambs. EARLY INCREASE OF NITRIC OXIDE IN A MODEL OF PERINATAL ASPHYXIA IN FETAL LAMBSMethods:10 preterm lambs (80 -90% GE) were randomly assigned to: Control group, after Cesarean section, lambs were managed on conventional mechanical ventilation for 3 hours (nϭ5); Asphyctic group, H-I injury was performed by partial cord clamping during 60 min and later, lambs were managed similar to the control group (nϭ5). NO was measured in serum samples by fluorometric assay at baseline (B), immediately after H-I injury and at the en...
DEDICATÓRIAAos meus filhos, meus príncipes Felipe e Henrique, que me ensinam todos os dias o verdadeiro significado de amar.Ao meu amado marido Eduardo, minha melhor companhia hoje e sempre.Aos meus queridos pais, Paulo e Suzana, de quem tenho o orgulho e o privilégio de ser filha, e em quem me espelho como pessoa e profissional.Ao meu irmão Fernando, com carinho. AGRADECIMENTOS
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