UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Granulocyte Colony-stimulating Factor Reduces Mortality by Suppressing Ventricular Arrhythmias in Acute Phase of Myocardial Infarction in Rats

Our aim was to evaluate the effects of granulocyte colony-stimulating factor (G-CSF) on early cardiac arrhythmias after myocardial infarction (MI) and the impact on survival. Male Wistar rats received repeated doses of 50 mu g/kg G-CSF (MI-GCSF group) or vehicle (MI group) at 7, 3, and 1 days before surgery. MI was induced by permanent occlusion of left corollary artery. The electrocardiogram was obtained before occlusion and then for 30 minutes after surgery. Events and duration of ventricular arrhythmias were analyzed. The levels of connexin43 (Cx43) were measured by Western blot immediately before MI production. Survival was significantly increased in MI-GCSF pretreated group (74% versus 52.0% MI. P < 0.05). G-CSF pretreatment also significantly reduced the ventricular premature beats when compared with the untreated-MI group (201 +/- 47 versus 679 +/- 117, P < 0.05). The number and the duration of ventricular tachycardia were smaller in the MI-G-CSF group, as well as the number of ventricular fibrillation episodes (10% versus 69% in NIL P < 0.05). Cx43 levels were significantly increased by G-CSF treatment (1.27 +/- 0.13 versus 0.86 +/- 0.11; P < 0.05). The MI size 24 hours after occlusion was reduced by G-CSF pretreatment (36 +/- 3% versus 44 +/- 2% of left ventricle in MI group; P < 0.05). The increase of Cx43 expression in the heart may explain the reduced incidence in ventricular arrhythmias in the early phases after coronary artery occlusion in rats, thus increasing survival after MI.

Water quality assessment of Toledo River and determination of metal concentrations by using SR-TXRF technique

The region of Toledo River, Parana, Brazil is characterized by intense anthropogenic activities. Hence, metal concentrations and physical-chemical parameters of Toledo River water were determined in order to complete an environmental evaluation catalog. Samples were collected monthly during one year period at seven different sites from the source down the river mouth, physical-chemical variables were analyzed, and major metallic ions were measured. Metal analysis was performed by using the synchrotron radiation total reflection X-ray fluorescence technique. A statistical analysis was applied to evaluate the reliability of experimental data. The analysis of obtained results have shown that a strong correlation between physical-chemical parameters existed among sites 1 and 7, suggesting that organic pollutants were mainly responsible for decreasing the Toledo River water quality.

Nil graded self-similar algebras

In [19], [24] we introduced a family of self-similar nil Lie algebras L over fields of prime characteristic p > 0 whose properties resemble those of Grigorchuk and Gupta-Sidki groups. The Lie algebra L is generated by two derivations v(1) = partial derivative(1) + t(0)(p-1) (partial derivative(2) + t(1)(p-1) (partial derivative(3) + t(2)(p-1) (partial derivative(4) + t(3)(p-1) (partial derivative(5) + t(4)(p-1) (partial derivative(6) + ...))))), v(2) = partial derivative(2) + t(1)(p-1) (partial derivative(3) + t(2)(p-1) (partial derivative(4) + t(3)(p-1) (partial derivative(5) + t(4)(p-1) (partial derivative(6) + ...)))) of the truncated polynomial ring K[t(i), i is an element of N vertical bar t(j)(p) =0, i is an element of N] in countably many variables. The associative algebra A generated by v(1), v(2) is equipped with a natural Z circle plus Z-gradation. In this paper we show that for p, which is not representable as p = m(2) + m + 1, m is an element of Z, the algebra A is graded nil and can be represented as a sum of two locally nilpotent subalgebras. L. Bartholdi [3] andYa. S. Krylyuk [15] proved that for p = m(2) + m + 1 the algebra A is not graded nil. However, we show that the second family of self-similar Lie algebras introduced in [24] and their associative hulls are always Z(p)-graded, graded nil, and are sums of two locally nilpotent subalgebras.

Football supporters an the negative word of mouth of their rival team's brand

This article has the objective of identifying whether the loyalty for the team has a negative effect on the word of mouth of the rival team’s brand. It has been developed a model based on the works of Fagundes (2013) and Santana and Akel Sobrinho (2010), through the use of Structural Equation Modeling - SEM, which presents three constructions: the identification with the team, the loyalty to the team and the negative word of mouth of the rival’s brand. 528 students from two college were interviewed and it has been identified that the emotional involvement of the supporter with his team reflects on the identification of a supporter by his team (KWON e ARMSTRONG, 2004; KAYNAK, 2008; JORDAN et al., 2014), it is thus formed a loyalty for the team (FUNK and JAMES, 2006). It influences other people in their personal relationships through the negative word of mouth communication.

What happens after the central bank of Brazil increases the target interbank rate by 1%?

I start presenting an explicit solution to Taylorís (2001) model, in order to illustrate the link between the target interest rate and the overnight interest rate prevailing in the economy. Next, I use Vector Auto Regressions to shed some light on the evolution of key macroeconomic variables after the Central Bank of Brazil increases the target interest rate by 1%. Point estimates show a four-year accumulated output loss ranging from 0:04% (whole sample, 1980 : 1-2004 : 2; quarterly data) to 0:25% (Post-Real data only) with a Örst-year peak output response between 0:04% and 1:0%; respectively. Prices decline between 2% and 4% in a 4-year horizon. The accumulated output response is found to be between 3:5 and 6 times higher after the Real Plan than when the whole sample is considered. The 95% confidence bands obtained using bias-corrected bootstrap always include the null output response when the whole sample is used, but not when the data is restricted to the Post-Real period. Innovations to interest rates explain between 4:9% (whole sample) and 9:2% (post-Real sample) of the forecast error of GDP.

Crescimento e nutrição mineral de Ipomoea nil

Um experimento em casa de vegetação foi conduzido entre novembro de 2005 e abril de 2006, na UNESP, campus de Jaboticabal, SP, objetivando estudar a produção de massa seca, a distribuição e o acúmulo de macronutrientes por Ipomoea nil, uma importante infestante de culturas anuais e perenes no Brasil. As plantas foram cultivadas em vasos de 7 litros com substrato de areia e irrigadas diariamente com solução nutritiva de Hoagland & Arnon. O delineamento experimental foi inteiramente casualizado, com quatro repetições. Os tratamentos corresponderam às épocas de avaliação, em intervalos de 14 dias, iniciandose 21 dias após a emergência (DAE). em cada avaliação, as plantas de quatro vasos foram analisadas quanto ao acúmulo de massa seca e à nutrição mineral. I. nil apresentou pequeno acúmulo de massa seca e de macronutrientes no início da fase experimental. Esses acúmulos se intensificaram após 77 DAE, atingindo o máximo valor teórico aos 123, 122, 124, 121, 119, 121 e 125 DAE, para massa seca, N, P, K, Ca, Mg e S, respectivamente. Folhas e caules foram os principais órgãos responsáveis pelo acúmulo de massa seca por plantas de I. nil. K e N foram os macronutrientes extraídos em maior quantidade por essa espécie.

Influence of respiratory biofeedback associated to re-expansive ventilation patterns in individuals with functional mouth breathing

Objectives: Assess the effect of re-expansive respiratory patterns associated to respiratory biofeedback (RBF) on pulmonary function, respiratory muscle strength and habits in individuals with functional mouth breathing (FMB).Methods: Sixty children with FMB were divided into experimental and control groups. The experimental group was submitted to 15 sessions of re-expansive respiratory patterns associated to RBF (biofeedback pletsmovent; MICROHARD (R) V1.0), which provided biofeedback of the thoracic and abdominal movements. The control group was submitted to 15 sessions using biofeedback alone. Spirometry, maximum static respiratory pressure measurements and questions regarding habits (answered by parents/guardians) were carried out before and after therapy. The Student's t-test for paired data and non-parametric tests were employed for statistical analysis at a 5% Level of significance.Results: Significant changes were found in forced vital. capacity, Tiffeneau index scores, maximum expiratory pressure, maximum inspiratory pressure and habits assessed in FMB with the use of RBF associated to the re-expansive patterns. No significant differences were found comparing the experimental and control groups.Conclusions: The results allow the conclusion that RBF associated to re-expansive patterns improves forced vital capacity, Tiffeneau index scores, respiratory muscle strength and habits in FMB and can therefore be used as a form of therapy for such individuals. (C) 2008 Elsevier B.V. All rights reserved.

Effect of Mouth Rinses with Fluoride and Trimetaphosphate on Enamel Erosion: An in vitro Study

The effect of mouth rinses containing fluoride (100 mu g/ml) and sodium trimetaphosphate (TMP) on enamel erosion was evaluated in vitro. Bovine enamel blocks were subjected to erosive challenges 4 times per day for 5 min, followed by treatment with placebo, 225 mu g F/ml, 100 mu g F/ml, 100 mu g F/ml and TMP (0.2, 0.4 and 0.6%) solutions (30 s) and storage in artificial saliva, over a duration of 5 days. TMP groups showed lower enamel wear than fluoride-only and placebo groups (p < 0.05). Addition of TMP at a TMP:NaF molar proportion between 1.24:1 and 3.72:1 to a solution containing 100 mu g F/ml presented a greater protective effect under erosive conditions than a solution containing 225 mu g F/ml, in the absence of TMP. Copyright (C) 2011 S. Karger AG, Basel

Correlation between koilocytes and human papillomavirus detection by PCR in oral and oropharynx squamous cell carcinoma biopsies

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Inhibition of pilocarpine-induced salivation in rats by central noradrenaline

Peripheral treatment with cholinergic or adrenergic agonists results in salivation and the possibility of synergy between cholinergic and adrenergic efferent mechanisms in the control of salivation has been proposed. Central injections of the cholinergic agonist pilocarpine also induce salivation, while the effects of central injections of noradrenaline (norepinephrine) are not known. Here (a) the effects of intracerebroventricular (icv) injection of noradrenaline on the salivation induced by icv or intraperitoneal (i.p.) injection of pilocarpine and (b) the receptors involved in the effects of central noradrenaline on pilocarpine-induced salivation were investigated. Male Holtzman rats with a stainless-steel guide cannula implanted into the lateral ventricle were used. Rats were anaesthetized with tribromoethanol (200 mg/kg body weight) and saliva was collected on small, preweighed cotton balls inserted into the animal's mouth. Noradrenaline (40, 80 and 160 nmol/l mul) injected icv reduced the salivary secretion induced by pilocarpine (0.5 mumol/l mul) injected icv. Noradrenaline (80 and 160 nmol/l mul) injected icv also reduced the salivation induced by pilocarpine (4 mumol/kg) injected i.p. Previous treatment with the alpha(2)-adrenergic receptor antagonists RX 821002 (40, 80 and 160 nmol/l mul) or yohimbine (160 and 320 nmol/l mul) abolished the inhibitory effect produced by icv injection of noradrenaline on pilocarpine-induced salivation in rats. Prazosin (alpha(1)-adrenergic receptor antagonist) injected icv did not change the effect of noradrenaline on pilocarpine-induced salivation. Prior icv injection of only RX 821002 (80 or 160 nmol/l mul) or yohimbine (320 nmol/l mul) increased pilocarpine-induced salivation. The results show that (1) contrary to its peripheral effects, noradrenaline acting centrally inhibits cholinergic-induced salivation in rats; (2) central mechanisms involving alpha(2)-adrenergic receptors inhibit pilocarpine-induced salivation. (C) 2002 Elsevier B.V. Ltd. All rights reserved.

Moxonidine and rilmenidine injected into the medial septal area reduces the salivation induced by pilocarpine

We determined the effects of moxonidine and rilmenidine 20 mol (alpha(2)-adrenergic and imidazoline receptor agonists) injected into the medial septal area (MSA) on the pilocarpine-induced salivation, when injected intraperitoneally (i.p.), of male Holtzman rats weighing 250300 g, with stainless-steel cannula implanted into the MSA. The rats were anesthetized with zoletil 50 mg kg(-1) b.wt. (tiletamine chloridrate 125.0 mg and zolazepan chloridrate 125.0 mg) into quadriceps muscle intramuscularly (IM), saliva was collected using pre-weighed small cotton balls inserted in the animal's mouth. The pre-treatment with moxonidine injected into the MSA reduced the salivation induced by pilocarpine (1 mg kg(-1)) injected i.p. (12 +/- 3 mg min(-1)) vs. control (99 +/- 9 mg min(-1)). The pre-treatment with rilmenidine 40 nmol also reduced the salivation induce by pilocarpine injected i.p. (20 +/- 5 mg min(-1)) vs. control (94 +/- 7 mg min(-1)). Idazoxan 40 nmol (imidazoline receptor antagonist) injected into the MSA previous to moxonidine and rilmenidine partially blocked the effect of moxonidine and totally blocked the rilmenidine effect in pilocarpine-induced salivation injected i.p. (60 +/- 8 and 95 +/- 10 mg min(-1), respectively). Yohimbine 40 nmol (alpha(2)-adrenergic receptor antagonist) injected into the MSA previously to moxonidine and rilmenidine partially blocked the moxonidine effect but produced no change on the rilmenidine effect on i.p. pilocarpine-induced salivation (70 +/- 6 and 24 +/- 6 mg min(-1), respectively). Injection of these alpha(2)-adrenergic and imidazoline agonists and antagonists agents i.p. produced no change on i.p. pilocarpine-induced salivation. These results show that central, but not peripheral, injection of alpha(2)-adrenergic and imidazoline agonists' agents inhibit pilocarpine-induced salivation. Idazoxan, an imidazoline receptor antagonist, totally inhibits the rilmenidine effect and partially inhibits the moxonidine effect on pilocarpine-induced salivation. Yohimbine produced no change on rilmenidine effect but partially inhibited the moxonidine effect. Both of these antagonists when injected into the MSA previous to pilocarpine i.p. potentiated the sialogogue effect of pilocarpine. The results suggest that alpha(2)-adrenergic/imidazoline receptor of the MSA when stimulated blocked pilocarpine-induced salivation in rats when injected intraperitonially These receptors of the medial septal area have an inhibitory mechanism on salivary secretion. (C) 2004 Elsevier B.V. All rights reserved.

Survey for Foot-and-mouth Disease in the Endangered Marsh Deer (Blastocerus dichotomus) from Marshlands of the Parana River Basin, Brazil

Habitat fragmentation and diseases have resulted in a decline of the marsh deer (Blastocerus (dichotomus) throughout its South American range. Our objectives were to determine whether marsh deer intended for translocation from a region of the Rio Parana Basin had been infected previously by foot-and-mouth disease virus (FMDV) and whether they were carrying virus We captured marsh deer from June to October 1998 and collected blood from 108 animals and esophageal-pharyngeal fluid from 53 Serum was tested for antibodies against three FMDV serotypes (O, A, and C) by liquid-phase-blocking sandwich enzyme-linked immunosorbent assay (ELISA) Esophageal-pharyngeal fluid was tested for FMDV RNA by reverse transcription polymerase chain reaction (RT-PCR) and inoculation into three successive baby hamster kidney (BHK-21) cell subcultures, followed by RT-PCR of cultures We detected low log(10) titers (range 1 0-1 5) to FM DV subtype A(24) Cruzeiro in 19 of 108 sampled marsh deer, but failed to isolate FMDV or detect FMDV RNA in any samples we conclude that marsh deer from our study site were unlikely to carry FMDV, however, as a preventive measure, the 19 animals with titers for FMDV were not sent to FMDV-free Brazilian states

Changes in abiotic characteristics of water in the Paranapanema River and three lateral lagoons at mouth zone of the Jurumirim Reservoir during the flood period, São Paulo, Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Differential benthic occupation by crabs in the Ubatuba bay, São Paulo, Brazil

The goal of this work was to examine the occurrence of brachyurans in soft bottom sublittoral habitats and their association with some environmental factors. The relative abundance of crabs in two depth strata (from 4.5 to 9 m and from 9 to 18 m) was quantified. Crabs were collected with an otter-trawl with 3.7 m of mouth opening and 12-mm mesh in the cod end. Monthly sampling, consisted of a single trawl in each stratum during a 1-yr period, were carried out. Fifteen brachyuran and six anomuran species were found, including Callinectes ornatus Ordway, 1863; Callinectes danae Smith, 1869; Hepatus pudibundus (Herbst, 1785); Libinia spinosa H. Milne-Edwards, 1834; Persephona punctata (Linnaeus, 1758), and P. mediterranea (Herbst, 1794), which were the most abundant and frequent in the area. The most abundant swimming crabs in both strata were C. ornatus and C, dan(re. Size differences in C. ornatus were observed between strata, suggesting a spatial separation of juveniles and adult crabs.