837 resultados para Turner-syndrome


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SOARES, Elvira Maria Mafaldo et al. Prevalence of the metabolic syndrome and its components in Brazilian women with polycystic ovary syndrome. Fertility and Sterility, v.89, n.3, p.649-655, mar. 2008

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The objective of this study was to examine the growth of Gracilaria cervicornis cultured in a shrimp (Litopenaeus vannamei) pond and to determine the absorption efficiency and the kinetics parameters (Vmax, Ks e Vmax:Ks) of this macroalgae for the nutrients N-NO3-, N-NH4+ and P-PO4-3, aiming at its use as bioremediatory of eutrophicated environments. For this study, two experiments (field and laboratory) were developed. In the field study, the seaweed was examined in relation to the growth and the biomass. In the laboratory experiment, the absorption efficiency of G. cervicornis was measured through the monitoring of the concentration of the three nutrients (N-NO3-, N-NH4+ e P-PO4-3) during 5 hours and the kinetic parameters were determined through the formula of Michaelis-Menten. The results obtained in this study demonstrated that G. cervicornis benefited from the available nutrients in the pond, increasing 52.4% of its biomass value after 30 days of culture. It was evidenced that the variability of the biomass could be explained through the salinity, availability of light (transparency and solid particle in suspension) and concentration of N-NO3- in the environment. In the laboratory experiment, the highest absorption efficiency was found in the treatments with low concentration (5 µmol.L-1), being evidenced a reduction of up to 85,3%, 97,5% and 81,2% of N-NH4+, N-NO3- and P-PO43-, respectively. Regarding the kinetic parameters, G. cervicornis presented better ability in absorbing N-NH4+ in high concentrations (Vmax = 158,5 µmol g-1 dry wt h-1) and P-PO43- in low concentrations (Ks = 5 µmol.L-1 e Vmax:Ks = 10,3). The results of this study show that G. cervicornis could be cultivated in shrimp ponds, presents a good capacity of absorption for the tested nutrients and is a promising candidate for biorremediation in shrimp pond effluent

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The ovarian remnant syndrome (ORS) is an iatrogenic disorder in bitches and queens, which is characterized by recurrence of estrus following surgical spay, due to the presence of a piece of ovarian tissue within the abdominal cavity. In most cases, the remnant ovary is found in the right ovarian pedicle, due to its topographic position, deeper and more cranial than the left ovary. The main clinical signs of ORS in small animals are the heat behavior and the presence of vaginal swelling/secretion, especially in canines. The diagnosis should be performed by means of vaginal cytology when attraction of males is detected, serum estrogen and progesterone levels and/or by challenging test with GnRH or hCG administration. However, vaginal citology is the most suitable and less expensive diagnostic tool. Nowadays the treatment of choice is a new laparotomy or laparoscopy, followed by removal of the remnant ovarian tissue. The surgical treatment has more chances of success if it is performed in the diestrus (i.e., between 15 and 60 days after the detection of attraction of males). Furthermore, a careful and accurate surgical procedure aided by advanced visualization techniques during ovariohysterectomy or ovariectomy is the best way to prevent ORS in companion animals.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

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Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure - a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus - the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS. (C) 2011 Elsevier Ltd. All rights reserved.

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The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N = 20, mean age = 8.5 years, SD = 1.62) and two typically developing groups, matched in mental (MA, N = 20, mean age = 4.92 years, SD = 1.14) and chronological age (CA, N = 19, mean age = 8.35 years, SD = 3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS. (C) 2011 Elsevier Ltd. All rights reserved.

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In patients with acute respiratory distress syndrome, positive end-expiratory pressure is associated with alveolar recruitment and lung hyperinflation despite the administration of a low tidal volume. The best positive end-expiratory pressure should correspond to the best compromise between recruitment and distension, a condition that coincides with the best respiratory elastance.

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Purpose of reviewLung ultrasound at the bedside can provide accurate information on lung status in critically ill patients with acute respiratory distress syndrome.Recent findingsLung ultrasound can replace bedside chest radiography and lung computed tomography for assessment of pleural effusion, pneumothorax, alveolar- interstitial syndrome, lung consolidation, pulmonary abscess and lung recruitment/de-recruitment. It can also accurately determine the type of lung morphology at the bedside (focal or diffuse aeration loss), and therefore it is useful for optimizing positive end-expiratory pressure. The learning curve is brief, so most intensive care physicians will be able to use it after a few weeks of training.SummaryLung ultrasound is noninvasive, easily repeatable and allows assessment of changes in lung aeration induced by the various therapies. It is among the most promising bedside techniques for monitoring patients with acute respiratory distress syndrome.