999 resultados para Status mutacional


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Biological markers for the status of vitamins B12 and D: the importance of some analytical aspects in relation to clinical interpretation of results When vitamin B12 deficiency is expressed clinically, the diagnostic performance of total cobalamin is identical to that of holotranscobalamin II. In subclinical B12 deficiency, the two aforementioned markers perform less well. Additional analysis of a second, functional marker (methylmalonate or homocysteine) is recommended. Different analytical approaches for 25-hydroxyvitamin D quantification, the marker of vitamin D deficiency, are not yet standardized. Measurement biases of up to +/- 20% compared with the original method used to establish threshold values are still observed.

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Treatment of congenital diaphragmatic hernia (CDH) challenges obstetricians, pediatric surgeons, and neonatologists. Persistent pulmonary hypertension (PPHT) associated with lung hypoplasia in CDH leads to a high mortality rate at birth. PPHT is principally due to an increased muscularization of the arterioles. Management of CDH has been greatly improved by the introduction of prenatal surgical intervention with tracheal obstruction (TO) and by more appropriate postnatal care. TO appears to accelerate fetal lung growth and to increase the number of capillary vessels and alveoli. Improvement of postnatal care over the last years is mainly due to the avoidance of lung injury by applying low peak inflation pressure during ventilation. The benefits of other drugs or technical improvements such as the use of inhaled nitric oxide or extracorporeal membrane oxygenation (ECMO) are still being debated and no single strategy is accepted worldwide. Despite intensive clinical and experimental research, the treatment of newborn with CDH remains difficult.

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BACKGROUND: The treatment of status epilepticus (SE) is based on relatively little evidence although several guidelines have been published. A recent study reported a worse SE prognosis in a large urban setting as compared to a peripheral hospital, postulating better management in the latter. The aim of this study was to analyse SE episodes occurring in different settings and address possible explanatory variables regarding outcome, including treatment quality. METHODS: Over six months we prospectively recorded consecutive adults with SE (fit lasting five or more minutes) at the Centre Hospitalier Universitaire Vaudois (CHUV) and in six peripheral hospitals (PH) in the same region. Demographical, historical and clinical variables were collected, including SE severity estimation (STESS score) and adherence to Swiss SE treatment guidelines. Outcome at discharge was categorised as "good" (return to baseline), or "poor" (persistent neurological sequelae or death). RESULTS: Of 54 patients (CHUV: 36; PH 18), 33% had a poor outcome. Whilst age, SE severity, percentage of SE episodes lasting less than 30 minutes and total SE duration were similar, fewer patients had a good outcome at the CHUV (61% vs 83%; OR 3.57; 95% CI 0.8-22.1). Mortality was 14% at the CHUV and 5% at the PH. Most treatments were in agreement with national guidelines, although less often in PH (78% vs 97%, P = 0.04). CONCLUSION: Although not statistically significant, we observed a slightly worse SE prognosis in a large academic centre as compared to smaller hospitals. Since SE severity was similar in the two settings but adherence to national treatment guidelines was higher in the academic centre, further investigation on the prognostic role of SE treatment and outcome determinants is required.

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A shrew belonging to the genus Sorex and displaying an entirely new karyotype (2N = 52, NF = 52) has been found in Italy, where it coexists with Sorex araneus. the form with 52 chromosomes differs from S. araneus in some cranial and dental characters. On the other hand, it is very similar to the type of Sorex samniticus Altobello, 1926, whose specific status is thus confirmed.

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Per legislative requirement, attached is the Iowa Department of Transportation’s summary of project status for infrastructure projects that have been appropriated revenue from various funds including Rebuild Iowa Infrastructure, Health Restricted Capitals, Bridge Safety, Revenue Bonds Capitals, and Revenue Bonds Capitals II. In addition, we have included status reports for the FY11 passenger rail appropriation from the Underground Storage Tank Fund and the FY2010 Commercial Service Vertical Infrastructure appropriation from the General Fund.

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The use of leaf total nitrogen concentration as an indicator for nutritional diagnosis has some limitations. The objective of this study was to determine the reliability of total N concentration as an indicator of N status for eucalyptus clones, and to compare it with alternative indicators. A greenhouse experiment was carried out in a randomized complete block design in a 2 × 6 factorial arrangement with plantlets of two eucalyptus clones (140 days old) and six levels of N in the nutrient solution. In addition, a field experiment was carried out in a completely randomized design in a 2 × 2 × 2 × 3 factorial arrangement, consisting of two seasons, two regions, two young clones (approximately two years old), and three positions of crown leaf sampling. The field areas (regions) had contrasting soil physical and chemical properties, and their soil contents for total N, NH+4-N, and NO−3-N were determined in five soil layers, up to a depth of 1.0 m. We evaluated the following indicators of plant N status in roots and leaves: contents of total N, NH+4-N, NO−3-N, and chlorophyll; N/P ratio; and chlorophyll meter readings on the leaves. Ammonium (root) and NO−3-N (root and leaf) efficiently predicted N requirements for eucalyptus plantlets in the greenhouse. Similarly, leaf N/P, chlorophyll values, and chlorophyll meter readings provided good results in the greenhouse. However, leaf N/P did not reflect the soil N status, and the use of the chlorophyll meter could not be generalized for different genotypes. Leaf total N concentration is not an ideal indicator, but it and the chlorophyll levels best represent the soil N status for young eucalyptus clones under field conditions.

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Background/Objective:Little is known about the precise role of parental migrant status (MS) and educational level (EL) on adiposity and various eating habits in young children. Therefore, we assessed their independent contribution in preschoolers.Subjects/Methods:Of 655 randomly selected preschoolers, 542 (5.1±0.6 years; 71% of parental MS and 37% of low parental EL) were analysed. Body composition was measured by bioelectrical impedance. Eating habits were assessed using a semiqualitative food frequency questionnaire and analysed according to five messages developed by the Swiss Society for Nutrition, based on factors implicated in childhood obesity: (1) 'Drinking water and decreasing sweetened drinks', (2) 'Eating fruit and vegetables', (3) 'Decreasing breakfast skipping', (4) 'Reducing fatty and sweet foods' and (5) 'Reducing the intake of meals and snacks in front of television'.Results:Children of migrant and low EL parents had higher body fat, ate more meals and snacks while watching television and had more fruit and fatty foods compared with their respective counterparts (all P0.04). Children of low EL parents also consumed less water and vegetables compared with their counterparts (all P0.04). In most instances, we found an independent contribution of parental MS and EL to adiposity and eating habits. A more pronounced effect was found if both parents were migrants or of low EL. Differences in adiposity and eating habits were relatively similar to the joint parental data when assessed individually for maternal and paternal MS and EL.Conclusions:Parental MS and EL are independently related to adiposity and various eating habits in preschoolers.European Journal of Clinical Nutrition advance online publication, 3 November 2010; doi:10.1038/ejcn.2010.248.

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ABSTRACT Univariate methods for diagnosing nutritional status such as the sufficiency range and the critical level for garlic crops are very susceptible to the effects of dilution and accumulation of nutrients. Therefore, this study aimed to establish bivariate and multivariate norms for this crop using the Diagnosis and Recommendation Integrated System (DRIS) and Nutritional Composition Diagnosis (CND), respectively. The criteria used were nutritional status and the sufficiency range, and then the diagnoses were compared. The study was performed in the region of Alto Paranaíba, MG, Brazil, during the crop seasons 2012 and 2013. Samples comprised 99 commercial fields of garlic, cultivated with the cultivar “Ito” and mostly established in Latossolo Vermelho-Amarelo Distrófico (Oxisol). Copper and K were the nutrients with the highest number of fields diagnosed as limiting by lack (LF) and limiting by excess (LE), respectively. The DRIS method presented greater tendency to diagnose LF, while the CND tended towards LE. The sufficiency range of both methods presented narrow ranges in relation to those suggested by the literature. Moreover, all ranges produced by the CND method provided narrower ranges than the DRIS method. The CND method showed better performance than DRIS in distinguishing crop yield covered by different diagnoses. Turning to the criterion of evaluation, the study found that nutritional status gave a better performance than sufficiency range in terms of distinguishing diagnoses regarding yield.

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Refractory status epilepticus (RSE)-that is, seizures resistant to at least two antiepileptic drugs (AEDs)-is generally managed with barbiturates, propofol, or midazolam, despite a low level of evidence (Rossetti, 2007). When this approach fails, the need for alternative pharmacologic and nonpharmacologic strategies emerges. These have been investigated even less systematically than the aforementioned compounds, and are often used, sometimes in succession, in cases of extreme refractoriness (Robakis & Hirsch, 2006). Several possibilities are reviewed here. In view of the marked heterogeneity of reported information, etiologies, ages, and comedications, it is extremely difficult to evaluate a given method, not to say to compare different strategies among them. Pharmacologic Approaches Isoflurane and desflurane may complete the armamentarium of anesthetics,' and should be employed in a ''close'' environment, in order to prevent intoxication of treating personnel. c-Aminobutyric acid (GABA)A receptor potentiation represents the putative mechanism of action. In an earlier report, isoflurane was used for up to 55 h in nine patients, controlling seizures in all; mortality was, however, 67% (Kofke et al., 1989). More recently, the use of these inhalational anesthetics was described in seven subjects with RSE, for up to 26 days, with an endtidal concentration of 1.2-5%. All patients required vasopressors, and paralytic ileus occurred in three; outcome was fatal in three patients (43%) (Mirsattari et al., 2004). Ketamine, known as an emergency anesthetic because of its favorable hemodynamic profile, is an N-methyl-daspartate (NMDA) antagonist; the interest for its use in RSE derives from animal works showing loss of GABAA efficacy and maintained NMDA sensitivity in prolonged status epilepticus (Mazarati & Wasterlain, 1999). However, to avoid possible neurotoxicity, it appears safer to combine ketamine with GABAergic compounds (Jevtovic-Todorovic et al., 2001; Ubogu et al., 2003), also because of a likely synergistic effect (Martin & Kapur, 2008). There are few reported cases in humans, describing progressive dosages up to 7.5 mg/kg/h for several days (Sheth & Gidal, 1998; Quigg et al., 2002; Pruss & Holtkamp, 2008), with moderate outcomes. Paraldehyde acts through a yet-unidentified mechanism, and appears to be relatively safe in terms of cardiovascular tolerability (Ramsay, 1989; Thulasimani & Ramaswamy, 2002), but because of the risk of crystal formation and its reactivity with plastic, it should be used only as fresh prepared solution in glass devices (Beyenburg et al., 2000). There are virtually no recent reports regarding its use in adults RSE, whereas rectal paraldehyde in children with status epilepticus resistant to benzodiazepines seems less efficacious than intravenous phenytoin (Chin et al., 2008). Etomidate is another anesthetic agent for which the exact mechanism of action is also unknown, which is also relatively favorable regarding cardiovascular side effects, and may be used for rapid sedation. Its use in RSE was reported in eight subjects (Yeoman et al., 1989). After a bolus of 0.3 mg/kg, a drip of up to 7.2 mg/kg/h for up to 12 days was administered, with hypotension occurring in five patients; two patients died. A reversible inhibition of cortisol synthesis represents an important concern, limiting its widespread use and implying a careful hormonal substitution during treatment (Beyenburg et al., 2000). Several nonsedating approaches have been reported. The use of lidocaine in RSE, a class Ib antiarrhythmic agent modulating sodium channels, was reviewed in 1997 (Walker & Slovis, 1997). Initial boluses up to 5 mg/kg and perfusions of up to 6 mg/kg/h have been mentioned; somewhat surprisingly, at times lidocaine seemed to be successful in controlling seizures in patients who were refractory to phenytoin. The aforementioned dosages should not be overshot, in order to keep lidocaine levels under 5 mg/L and avoid seizure induction (Hamano et al., 2006). A recent pediatric retrospective survey on 57 RSE episodes (37 patients) described a response in 36%, and no major adverse events; mortality was not given (Hamano et al., 2006 Verapamil, a calcium-channel blocker, also inhibits P-glycoprotein, a multidrug transporter that may diminish AED availability in the brain (Potschka et al., 2002). Few case reports on its use in humans are available; this medication nevertheless appears relatively safe (under cardiac monitoring) up to dosages of 360 mg/day (Iannetti et al., 2005). Magnesium, a widely used agent for seizures elicited by eclampsia, has also been anecdotally reported in RSE (Fisher et al., 1988; Robakis & Hirsch, 2006), but with scarce results even at serum levels of 14 mm. The rationale may be found in the physiologic blockage of NMDA channels by magnesium ions (Hope & Blumenfeld, 2005). Ketogenic diet has been prescribed for decades, mostly in children, to control refractory seizures. Its use in RSE as ''ultima ratio'' has been occasionally described: three of six children (Francois et al., 2003) and one adult (Bodenant et al., 2008) were responders. This approach displays its effect subacutely over several days to a few weeks. Because ''malignant RSE'' seems at times to be the consequence of immunologic processes (Holtkamp et al., 2005), a course of immunomodulatory treatment is often advocated in this setting, even in the absence of definite autoimmune etiologies (Robakis & Hirsch, 2006); steroids, adrenocorticotropic hormone (ACTH), plasma exchanges, or intravenous immunoglobulins may be used alone or in sequential combination. Nonpharmacologic Approaches These strategies are described somewhat less frequently than pharmacologic approaches. Acute implantation of vagus nerve stimulation (VNS) has been reported in RSE (Winston et al., 2001; Patwardhan et al., 2005; De Herdt et al., 2009). Stimulation was usually initiated in the operation room, and intensity progressively adapted over a few days up to 1.25 mA (with various regimens regarding the other parameters), allowing a subacute seizure control; one transitory episode of bradycardia/asystole has been described (De Herdt et al., 2009). Of course, pending identification of a definite seizure focus, resective surgery may also be considered in selected cases (Lhatoo & Alexopoulos, 2007). Low-frequency (0.5 Hz) transcranial magnetic stimulation (TMS) at 90% of the resting motor threshold has been reported to be successful for about 2 months in a patient with epilepsia partialis continua, but with a weaning effect afterward, implying the need for a repetitive use (Misawa et al., 2005). More recently, TMS was applied in a combination of a short ''priming'' high frequency (up to 100 Hz) and longer runs of low-frequency stimulations (1 Hz) at 90-100% of the motor threshold in seven other patients with simple-partial status, with mixed results (Rotenberg et al., 2009). Paradoxically at first glance, electroconvulsive treatment may be found in cases of extremely resistant RSE. A recent case report illustrates its use in an adult patient with convulsive status, with three sessions (three convulsions each) carried out over 3 days, resulting in a moderate recovery; the mechanism is believed to be related to modification of the synaptic release of neurotransmitters (Cline & Roos, 2007). Therapeutic hypothermia, which is increasingly used in postanoxic patients (Oddo et al., 2008), has been the object of a recent case series in RSE (Corry et al., 2008). Reduction of energy demand, excitatory neurotransmission, and neuroprotective effects may account for the putative mechanism of action. Four adult patients in RSE were cooled to 31_-34_C with an endovascular system for up to 90 h, and then passively rewarmed over 2-50 h. Seizures were controlled in two patients, one of whom died; also one of the other two patients in whom seizures continued subsequently deceased. Possible side effects are related to acid-base and electrolyte disturbances, and coagulation dysfunction including thrombosis, infectious risks, cardiac arrhythmia, and paralytic ileus (Corry et al., 2008; Cereda et al., 2009). Finally, anecdotic evidence suggests that cerebrospinal fluid (CSF)-air exchange may induce some transitory benefit in RSE (Kohrmann et al., 2006); although this approach was already in use in the middle of the twentieth century, the mechanism is unknown. Acknowledgment A wide spectrum of pharmacologic (sedating and nonsedating) and nonpharmacologic (surgical, or involving electrical stimulation) regimens might be applied to attempt RSE control. Their use should be considered only after refractoriness to AED or anesthetics displaying a higher level of evidence. Although it seems unlikely that these uncommon and scarcely studied strategies will influence the RSE outcome in a decisive way, some may be interesting in particular settings. However, because the main prognostic determinant in status epilepticus appears to be related to the underlying etiology rather than to the treatment approach (Rossetti et al., 2005, 2008), the safety issue should always represent a paramount concern for the prescribing physician. Conclusion The author confirms that he has read the Journal's position on issues involved in ethical publication and affirms that this paper is consistent with those guidelines.

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European island shrews are either relicts of the endemic Pleistocene fauna, e.g.,. Crocidura zimmermanni, or were introduced from continental source populations. In order to clarify the taxonomic status and the origin of the two shrew species from the Canary islands, a 981bp fragment of cytochrome b gene was investigated in all European Crocidura species and compared with the Canary shrew (Crocidura canariensis) and the Osorio shrew (Crocidura osorio). The first shares its karyotype with the Sicilian shrew Crocidura sicula (2N=36), the second with the Greater white-toothed shrew Crocidura russula (2N=42), suggesting possible sister species relationships. Results confirm the monophyly of taxa sharing the same karyotype. Genetic distances between C. sicula and C. canariensis suggest a separation since 5 Myr. The first was probably isolated from the North African ancestor after the Messinian desiccation; the second arrived on the Canary islands by natural jump dispersal. Within the 2N=42 cluster, a first split separated an Eastern line (Tunisia) from a western line (Morocco/Europe) of C. russula. C. osorio clusters together with C. russula from Spain, indicating conspecificy. This suggests a recent introduction from Spain by human.

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Despite data favouring a role of dietary fat in colonic carcinogenesis, no study has focused on tissue n3 and n6 fatty acid (FA) status in human colon adenoma-carcinoma sequence. Thus, FA profile was measured in plasma phospholipids of patients with colorectal cancer (n = 22), sporadic adenoma (n = 27), and normal colon (n = 12) (control group). Additionally, mucosal FAs were assessed in both diseased and normal mucosa of cancer (n = 15) and adenoma (n = 21) patients, and from normal mucosa of controls (n = 8). There were no differences in FA profile of both plasma phospholipids and normal mucosa, between adenoma and control patients. There were considerable differences, however, in FAs between diseased and paired normal mucosa of adenoma patients, with increases of linoleic (p = 0.02), dihomogammalinolenic (p = 0.014), and eicosapentaenoic (p = 0.012) acids, and decreases of alpha linolenic (p = 0.001) and arachidonic (p = 0.02) acids in diseased mucosa. A stepwise reduction of eicosapentaenoic acid concentrations in diseased mucosa from benign adenoma to the most advanced colon cancer was seen (p = 0.009). Cancer patients showed lower alpha linolenate (p = 0.002) and higher dihomogammalinolenate (p = 0.003) in diseased than in paired normal mucosa. In conclusion changes in tissue n3 and n6 FA status might participate in the early phases of the human colorectal carcinogenesis.

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The antiphospholipid syndrome was initially described in 1986. To reassess the validity of antiphospholipid antibodies in systemic lupus erythematosus (SLE), 95 patients with SLE were studied. Their antiphospholipid antibody profile was analysed and correlated with clinical findings such as thrombosis, abortions, or thrombocytopenia. A low prevalence of these antibodies was found (13 patients; 14%) with a high specificity for thrombosis (92%) and abortions (92%). The importance of anticardiolipin antibodies as a risk factor for thrombosis or abortions, or both, in patients with SLE is reaffirmed by this work.