ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.

Vaccinia-related kinase 1 (VRK1) is a gene which has been implicated in the pathological process of a broad range of neurodevelopmental disorders as well as neuropathies, such as Amyotrophic Lateral Sclerosis (ALS). Here we report a family presenting ALS in an autosomal recessive mode of inheritance, segregating with a homozygous missense mutation located in VRK1 gene (p.R321C; Arg321Cys). Proteomic analyses from iPSC-derived motor neurons identified 720 proteins eligible for subsequent investigation, and our exploration of protein profiles revealed significant enrichments in pathways such as mTOR signaling, E2F, MYC targets, DNA repair response, cell proliferation and energetic metabolism. Functional studies further validated such alterations, showing that affected motor neurons presented decreased levels of global protein output, ER stress and downregulation of mTOR signaling. Mitochondrial alterations also pointed to decreased reserve capacity and increased non-mitochondrial oxygen consumption. Taken together, our results present the main pathological alterations associated with VRK1 mutation in ALS.

Protein requirements for pregnant dairy cows.

We aimed to estimate the protein requirements of pregnant Holstein × Gyr cows. A total of 61 Holstein × Gyr (HG) cows were used, with an average initial body weight (BW) of 480 ± 10.1 kg and age 5 ± 0.5 yr. Cows were divided into 3 groups: pregnant (n = 43), nonpregnant (n = 12), and baseline (n = 6). Baseline animals were slaughtered before starting the experiment to estimate the initial body composition of the remaining animals. Pregnant and nonpregnant cows received 2 diets: maintenance and ad libitum. Pregnant cows were slaughtered at 139, 199, 241, and 268 gestation days (GD). First, we used data only from nonpregnant cows to determine the requirements for maintenance and growth in adult cows. The requirements of metabolizable protein for maintenance (MPm; grams of empty metabolic BW [EBW0.75] per day) were estimated using a linear regression between the metabolizable protein intake (MPI, g/d) and average daily gain (g/d), and the MPm was defined as the intercept divided by the average metabolic BW. Net protein requirements for gain (NPg; g/d) were estimated by the first derivative of the allometric equation between final crude protein in the body (kg) and the final empty BW (EBW; kg). The efficiency of use of metabolizable protein for gain (k) was calculated from the regression between the retained protein (g EBW0.75/d) and the MPI (g EBW0.75/d), and k was the slope of this regression. The MPI was estimated by combining microbial protein synthesis (purine derivatives) with the digestible rumen undegradable protein [(total protein intake - rumen-degradable protein) × intestinal digestibility]. Second, an exponential model was used to fit the protein accumulation in the gestational components in the function of GD. The first derivative of that model was considered the net requirement for gestation (NPgest). The efficiency of protein utilization for gestation (kgest) was calculated by the iterative method using the equation Δ = MPI - (MPm + NPg/kg + NPgest/kgest), where kg is efficiency of protein utilization for gain. The iteration was performed aiming at a zero deviation between observed MPI and metabolizable protein (MP) estimated by the requirements determined herein. We obtained a value of 3.88 g EBW0.75/d for MPm. The estimation of NPg can be calculated according to the following equation: NPg = 0.716 × (EBWopen-0.308) × EBGc, where EBWopen is the EBW (kg) for nonpregnant animals and EBGc is the empty body gain (kg/d) corrected for the gestational component. The k was determined as 0.347. The NPgest requirements were determined as NPgest (g/d) = 0.0008722 × exp(0.01784 × GD) × (calf weight/35). The kgest was 0.625. It is important to highlight that different methods of MP estimates should not be mixed and that the proposed method requires the estimation of microbial protein (estimated via urinary estimates), which might limit practical application. In conclusion, new studies should be conducted to validate our results and the methodology adopted to determine protein requirements for pregnancy in dairy cows. Due to the pattern of protein accumulation in the gestational components, we suggest an exponential model to describe protein requirements for pregnancy for dairy cows.

Genotypic variation of the interactive effects of elevated temperature and CO2 on leaf gas exchange and early growth of sugarcane.

Increased atmospheric CO2 and consequent increases in temperature are two prominent features of climate change, a major challenge to crops. Here, our objectives were to determine: (1) the responses of sugarcane during the first 90 days of elevated CO2 (ECO2 ) and elevated temperature (ETem), both individually and together, and (2) the genotypic variation of these responses. Eight varieties were grown both in open-top chambers in a factorial combination of ambient/ECO2 concentrations (344-351/777-779 ppm) and ambient/ETem (34.9-35.6/36.6-38.4°C) and in open fields. Significant treatment × variety interaction effects were observed on leaf net photosynthetic rate (An ), stomatal conductance (gs ), transpiration rate (El ), and instantaneous transpiration efficiency (TE ). In most varieties, ECO2 alone did not affect An, but the combination of ECO2 and ETem decreased An . ECO2 decreased gs and El while increasing TE in all varieties. These effects were amplified when ETem was combined with ECO2 . ETem alone had variable effects on An and gs depending on variety, while it increased El and did not affect TE in a majority of varieties. Germination, tillering and stem diameter were not affected by treatments and did not show varietal variation. Leaf water potential, chlorophyll (spad), leaf area, and aboveground dry weight per plant showed varietal variations but were not affected by treatments. The variable responses to ETem and the significant genotypic variation to ECO2 and elevated temperature (ETem) observed in this work, both individually and together, demonstrate a considerable scope to breed sugarcane varieties for a future high-CO2 and warmer climate.

Short communication: Development and evaluation of equations to predict growth of Holstein dairy heifers in a tropical climate.

The objective of this study was to develop and validate equations for estimating growth of dairy heifers using measures of withers height, body weight (BW), and age. Measures of BW and withers height of 207 Holstein heifers raised in a tropical climate were taken from birth to calving, totaling to 2,047 observations. To be included in the database, the heifer had to have at least 4 measures recorded. After that, 4 models were built and evaluated as follows: (1) a linear model of BW as function of age (BW~A), (2) a linear model of the BW-to-height ratio as function of age (BW:H~A), (3) a quadratic model, adjusted for a defined plateau, to describe height as function of age (H~A), and (4) an exponential growth model of BW as function of height (BW~H). A cross-validation procedure was performed to evaluate accuracy and precision of the models. The linear relationship of BW~A and BW:H~A were estimated, respectively, by the equations: BW = 42.65 + 0.62 × A and BW:H = 0.70 + 0.0041 × A, where BW is in kilograms, BW:H = BW-to-height ratio (kg/cm), and A = age (d). Using the quadratic plateau for the model H~A, a critical "x" value of ~806 d and a height plateau of 138.6 cm were identified. Therefore, the following equations for estimating the height of animals younger and older than 806 d, respectively, were developed: H = 78.15 + 0.150 × A - 0.00009 × A2 and H = 78.15 + 0.150 × cvx - 0.00009 × cvx2, where H = height (cm) and cvx = 806 (critical "x" value; given in days). Additionally, the exponential model of W~H was estimated by the following equation: BW = 4.25 × exp(0.034 ×H), where BW is in kilograms and H = height (cm). A cross validation demonstrated that all equations had very high accuracy and precision. Overall, these models demonstrated that BW and BW-to-height ratio increase linearly as a function of age, while BW follows an exponential growth pattern as a function of height. Additionally, the H~A model predicted that heifers achieve a maximum height of 138.6 cm at 806 d of age.

The impact of two root canal treatment protocols on the oral health-related quality of life: a randomized controlled pragmatic clinical trial.

AIM: To assess the impact of two root canal treatment protocols on the oral health-related quality of life (OHRQoL) of patients in need of root canal treatment on their anterior teeth. METHODOLOGY: The sample consisted of 120 participants (mean age: 34 years) enrolled in a pragmatic randomized clinical trial evaluating two root canal treatment protocols. Anterior teeth with nonvital pulps were allocated for root canal preparation with either hand files and filled with lateral compaction of gutta-percha (manual protocol) or canal preparation with a single file in a reciprocating movement and filled with a single cone technique (Reciproc protocol). OHRQoL data were assessed using the Oral Health Impact Profile instrument (OHIP-14), which was administered before the root canal intervention (baseline), and 6 and 12 months after treatment. Demographic and clinical characteristics of participants were collected at baseline. Data were analysed using bivariate analyses, Poisson univariate and multiple regression (α = 0.05). RESULTS: The drop-out rate from baseline was 27% and 28% at 6 and 12 months after treatment, respectively. Both root canal protocols significantly enhanced patients' OHRQoL, regardless of the follow-up time (P < 0.001). After 6 months, patients treated with the Reciproc protocol had significantly lower OHIP-14 overall scores (P = 0.030), as well as significantly lower scores for psychological discomfort (P = 0.031) and social disability (P = 0.013). After 12 months, no significant difference was observed between the two root canal protocols for OHIP-14 overall scores (P = 0.174). Either large or moderate effect sizes were observed for all domains and overall scores at both evaluation times, irrespective of the protocol. Low-income persons (RR = 2.03) and the Reciproc protocol (RR = 1.52) had a higher likelihood of a positive impact on OHRQoL 12 months after root canal treatment. CONCLUSIONS: The two root canal protocols improved the OHRQoL and differences in scores were observed only after 6 months with poorer OHRQoL for the manual protocol. After 12 months, patients with low-income status and treated with Reciproc were associated with a greater improvement in OHRQoL scores.

Determination of macromineral requirements for preweaned dairy calves in tropical conditions.

International committees that have published nutrient requirements for dairy cattle have used data from mineral studies conducted in the 1920s to 1970s, and no study has reported data from animals less than 100 kg; therefore, there is a need to update mineral requirements for preweaned dairy calves. Thus, a meta-analysis was performed to estimate the mineral requirements of Ca, P, K, Mg, and Na for Holstein and Holstein × Gyr crossbred preweaned dairy calves using data from 5 studies developed at the Universidade Federal de Viçosa (Viçosa, MG, Brazil). A total of 210 calves were separated into 2 breeds: purebred Holstein calves (animals with a Holstein pedigree higher than 87.5%) and Holstein × Gyr crossbred calves (animals with a Holstein pedigree lower than 87.5%). The comparative slaughter technique was used to estimate animal body composition and empty body weight (EBW). Mineral requirements for maintenance were estimated by the regression between retained mineral and mineral intake, whereas mineral requirements for gain were obtained from the first derivative of the mineral content in the animal's body. In addition, breed effect was tested on the intercept and slope of the models. The effect of breed was not observed for all analyzed variables. Thus, net requirements for maintenance were 12.73, 11.81, 20.28, 3.50, and 6.37 mg/kg of EBW per day for Ca, P, K, Mg, and Na, respectively. Retention coefficients were 73.18, 65.20, 13.16, 29.55, and 24.28% for Ca, P, K, Mg, and Na, respectively. The following equations were determined to estimate net requirements for gain (NRG, g/d): NRG for Ca = 14.402 × EBW-0.139 × empty body gain (EBG); NRG for P = 5.849 × EBW-0.027 × EBG; NRG for K = 1.140 × EBW-0.048 × EBG; NRG for Mg = 0.603 × EBW-0.036 × EBG; and NRG for Na = 1.508 × EBW-0.045 × EBG. Due to the high variation between the data found in this study and in the available literature, we suggest that further studies should be conducted to evaluate the estimates of this study.

Effects of rumen-undegradable protein on intake, performance, and mammary gland development in prepubertal and pubertal dairy heifers.

The objective of this study was to evaluate the influence of different amounts of rumen-undegradable protein (RUP) on intake, N balance, performance, mammary gland development, carcass traits, and hormonal status of Holstein heifers at different physiological stages (PS). Sixteen prepubertal (PRE) heifers (initial BW = 106 ± 7.6 kg; age = 4.3 ± 0.46 mo) and 16 pubertal (PUB) heifers (initial BW = 224 ± 7.9 kg; age = 12.6 ± 0.45 mo) were used in an experiment over a period of 84 d. Four diets with increasing RUP contents (38, 44, 51, and 57% of dietary crude protein) and heifers at 2 PS (PRE or PUB) were used in a 4 × 2 factorial arrangement of treatments in a completely randomized design. Throughout the experiment, 2 digestibility trials were performed over 5 consecutive days (starting at d 36 and 78) involving feed and ort sampling and spot collections of feces and urine. At d 0 and 83, body ultrasound images were obtained for real-time carcass trait evaluation. The mammary gland was ultrasonically scanned at d 0 and every 3 wk during the experiment. Blood samples were taken at d 0 and 84 to determine serum concentrations of progesterone, estrogen, insulin-like growth factor I (IGF-I), and insulin. No interaction between PS and the level of RUP was found for any trait. Apparent digestibility of dry matter, organic matter, and neutral detergent fiber corrected for ash and protein was not affected by RUP level but was lower for PRE compared with PUB heifers. Sorting against neutral detergent fiber corrected for ash and protein (tendency only) and for crude protein was greater for PUB than PRE heifers. Pubertal heifers had greater average daily gain (905 vs. 505 g/d) and N retention (25.9 vs. 12.5 g/d) than PRE heifers. In addition, average daily gain and N retention were greatest at 51% RUP of dietary protein. Mammary ultrasonography indicated no effects of RUP amounts on mammary gland composition, whereas PRE heifers had greater pixel values than PUB, indicating higher contents of fat rather than protein in the mammary glands of PRE heifers. Serum progesterone and IGF-I concentration was affected only by PS, and PRE heifers had greater values of progesterone and IGF-I concentrations than PUB heifers. Serum insulin concentration was unaffected by PS but tended to be higher at 51% of RUP. In conclusion, an RUP level of 51% increases body weight, average daily gain, feed efficiency, and N retention in heifers regardless of the PS. In addition, PRE heifers have a lower sorting ability and reduced intake, total-tract digestibility, and N retention. They also have higher amounts of fat in their mammary glands, even at moderate growth rates.

Effect of thermally deposited siloxane-methacrylate coating on bonding to glass fibre posts.

AIM: To evaluate the alterations promoted by a thermally deposited siloxane-methacrylate coating on the surface of glass fibre posts and their effect on the bond strength of resin-core materials to the posts. METHODOLOGY: Fibre post surfaces were treated with experimental thermally deposited siloxane-methacrylate coatings or clinically available treatments (i.e. hydrogen peroxide and methylene chloride); nontreated posts were used as controls. The contact angles formed between the post surface and the water/adhesive were measured with a tensiometer. Scanning electron microscopy and electron dispersive spectroscopy were used to examine the topographies and chemical changes in the post surfaces following treatment. Surface roughness was evaluated with laser interferometry. Core resin was bonded to the fibre posts, and microtensile bond strength testing was subsequently performed. The data were individually submitted to anova and Tukey's tests (α = 0.05). RESULTS: The water contact angle was reduced significantly (P < 0.05) by the thermally deposited siloxane-methacrylate coating. All treatments significantly increased the adhesive contact angle (P ≤ 0.016) compared to the control as well as the surface roughness (P ≤ 0.006) and the amount of Si on post surfaces. Greater percentages of Si were observed for the thermally deposited coating. The bond strength to the posts was significantly improved by the thermally deposited coating (P < 0.05), whereas the other treatments did not differ from the control. CONCLUSION: Treating the surface of glass fibre posts with a thermally deposited siloxane-methacrylate coating improved the bond strength to resin-based materials. The coating could be performed by manufacturers of glass fibre posts in order to reduce the number of clinical steps required for luting posts into root canals.

Environmental factors that influence milk production of Pantaneiro ewes and the weight gain of their lambs during the pre-weaning period.

The main objective of this research was to conduct an exploratory study of the lactation curve in order to characterize the productive potential of Pantaneiro ewes and lambs. Fifty ewes were bred using four rams in two different mating seasons. The ewes were kept with their lambs on pasture of Brachiaria brizantha. Ewe body score, ewe weight, and lamb weight were evaluated. Milk sampling was performed every week. In the morning for milk collections, the ewes were treated with 1 UI of oxytocin (intramuscular) for complete milking. Lambs were separated from the ewes for 4 h and milk collections were performed. The total milk production over 24 h was estimated by multiplying the production of this period (4 h) by 6. The data were analyzed using the MIXED procedure (P < 0.05) in SAS. Milk production data were fitted to the curve using the incomplete gamma function of Wood, and lamb growth data were fitted using the Gompertiz equation. The average milk production of the ewes was 1.03 kg/day-1. Younger ewes had the lowest milk production (18 = 798 ± 330, 24 = 1001 ± 440, 36 = 1100 ± 490, and 48 = 1106 ± 490 g/day-1). Ewe body score at lambing affected initial milk production (1.0 = 816 ± 660, 1.5 = 1089 ± 105, and 2.0 = 1424 ± 1600 g/day-1). Lambs were weaned with an average weight of 20.3 kg. Daily weight gain from birth to weaning was 181 g. Locally adapted Pantaneiro ewes showed a linear decreasing lactation curve, with reduced production from the second week of lactation. Overall, evaluation of the dairy production and lamb performance revealed great variation, denoting potential for selection.

Determination of energy and protein requirements for crossbred Holstein × Gyr preweaned dairy calves.

The objective was to quantify the energy and protein nutritional requirements of Holstein × Gyr crossbred preweaned dairy calves until 64 d of age. Thirty-nine Holstein × Gyr crossbred male calves with an average initial live weight (mean ± SEM; for all next values) of 36 ± 1.0 kg were used. Five calves were slaughtered at 4 d of life to estimate the animals' initial body composition (reference group). The remaining 34 calves were distributed in a completely randomized design in a 3 × 2 factorial arrangement consisting of 3 levels of milk (2, 4, or 8 L/d) and 2 levels of starter feed (presence or absence in diet). At 15 and 45 d of life, 4 animals from each treatment were subjected to digestibility trials with total collection of feces (for 72 h) and urine (for 24 h). At 64 d of age, all animals were slaughtered, their gastro-intestinal tract was washed to determine the empty body weight (EBW; kg), and their body tissues were sampled for subsequent analyses. The net energy requirement for maintenance was estimated using an exponential regression between metabolizable energy intake and heat production (both in Mcal/EBW0.75 per d) and was 74.3 ± 5.7 kcal/EBW0.75 per d, and was not affected by inclusion of starter feed in the diet. The metabolizable energy requirement for maintenance was determined at the point of zero energy retention in the body and was 105.2 ± 5.8 kcal/EBW0.75 per d. The net energy for gain was estimated using the EBW and the empty body gain (EBG; kg/d) as 0.0882 ± 0.0028 × EBW0.75 × EBG0.9050±0.0706. The metabolizable energy efficiency for gain (kg) of the milk was 57.4 ± 3.45%, and the kg of the starter feed was 39.3 ± 2.09%. The metabolizable protein requirement for maintenance was 3.52 ± 0.34 g/BW0.75 per d. The net protein required for each kilogram gained was estimated as 119.1 ± 32.9 × EBW0.0663±0.059. The metabolizable protein efficiency for gain was 77 ± 8.5% and was not affected by inclusion of starter feed in the diet. In conclusion, the energy efficiency for gain of milk is higher than that of starter and the net protein required per unit protein gain increases with empty body weight.

Regular and moderate aerobic training before allergic asthma induction reduces lung inflammation and remodeling.

Experimental studies have reported that aerobic exercise after asthma induction reduces lung inflammation and remodeling. Nevertheless, no experimental study has analyzed whether regular/moderate aerobic training before the induction of allergic asthma may prevent these inflammatory and remodeling processes. For this purpose, BALB/c mice (n = 96) were assigned into non-trained and trained groups. Trained animals ran on a motorized treadmill at moderate intensity, 30 min/day, 3 times/week, for 8 weeks, and were further randomized into subgroups to undergo ovalbumin sensitization and challenge or receive saline using the same protocol. Aerobic training continued until the last challenge. Twenty-four hours after challenge, compared to non-trained animals, trained mice exhibited: (a) increased systolic output and left ventricular mass on echocardiography; (b) improved lung mechanics; (c) decreased smooth muscle actin expression and collagen fiber content in airways and lung parenchyma; (d) decreased transforming growth factor (TGF)-ß levels in bronchoalveolar lavage fluid (BALF) and blood; (e) increased interferon (IFN)-γ in BALF and interleukin (IL)-10 in blood; and (f) decreased IL-4 and IL-13 in BALF. In conclusion, regular/moderate aerobic training prior to allergic asthma induction reduced inflammation and remodeling, perhaps through increased IL-10 and IFN-γ in tandem with decreased Th2 cytokines.

Uptake and Elimination of 4-Nonylphenol in the Enchytraeid Enchytraeus albidus.

We determined the uptake and elimination kinetics of 4-nonylphenol (4-NP) in Enchytraeus albidus. A relatively fast degradation of 4-NP in test soil occurred at 20°C (λ = 0.11 day(-1)). The concentration of 4-NP in worm tissue followed a three-phase kinetics model, with a short phase of fast 4-NP accumulation shortly after exposure start (k u = 0.97 mg kg(-1) day(-1)), followed by partial elimination (K e1 = 1.47 day(-1)) until reaching the equilibrium phase (A = 44.7 mg kg(-1) fresh tissue), and finally the elimination upon transfer to uncontaminated soil (K e2 = 0.67 day(-1)). During uptake, the internal concentration was similar to the concentration found in the soil, with a BAF ~ 1. In un-spiked soil, elimination took place within the first 24 h (elimination t1/2 ~ 1 day).

Silver-gelatine bionanocomposites for qualitative detection of a pesticide by SERS.

The controlled release of pesticides using hydrogel vehicles is an important procedure to limit the amount of these compounds in the environment, providing an effective way for crop protection. A key-step in the formulation of new materials for these purposes encompasses the monitoring of available pesticides in the gel matrix under variable working conditions. In this work, we report a series of bionanocomposites made of Ag nanoparticles (NPs) and gelatine A for the surface enhanced Raman scattering (SERS) detection of sodium diethyldithiocarbamate (EtDTC) as a pesticide model. These studies demonstrate the effectiveness of these substrates for the detection of EtDTC in aqueous solutions in a concentration as low as 10(-5) M. We have monitored the Raman signal enhancement of this analyte in bionanocomposites having an increasing amount of gelatine due to their relevance in formulating hydrogels of variable gel strengths. Under these conditions, the bionanocomposites have shown an effective SERS activity using EtDTC, demonstrating their effectiveness in the qualitative detection of this analyte. Finally, experiments involving the release of EtDTC from Ag/gelatine samples have been monitored by SERS, which attest the potential of this spectroscopic method in the laboratorial monitoring of hydrogels for pesticide release.

Effects of raw milk and starter feed on intake and body composition of Holstein × Gyr male calves up to 64 days of age.

The objective was to evaluate the effect of supplying different levels of raw milk, alone or in combination, with access to a starter feed, on the intake, digestibility, daily gain, N balance, and body composition of Holstein × Gyr crossbred suckling calves until 64 d of age. Thirty-nine male calves aged 4 d with an average initial live weight of 36 ± 1.0 kg were used. Five calves were defined as a reference group and slaughtered at 4 d of age to estimate the initial body composition of the animals. The other calves were distributed according to a completely randomized design in a 3 × 2 factorial arrangement consisting of 3 levels of milk (2, 4, or 8 L/d) and 2 levels of starter feed (presence or absence in diet). At 15 and 45 d of age, 4 animals from each treatment were subjected to digestibility trials with total collection of feces and urine and sampling of feeds. At 64 d of age, all animals were slaughtered and their body tissues were sampled for analyses. Total dry matter and nutrient intake increased linearly and starter intake decreased linearly in response to the supply of increasing amounts of milk. The digestibility coefficient of organic matter was not affected by the inclusion of starter feed and increased linearly as milk supply was elevated. Daily gain was greater at increased milk supply levels and also greater when starter was supplied, without any interaction between milk supply level and the presence or absence of starter. Fecal N excretion and N retention were higher in the animals fed starter feed. Fecal N excretion was not affected by milk levels, whereas N retention was affected. Body protein and ash contents decreased linearly according to increased milk allowance. In contrast, fat body content increased linearly according to milk supply. The presence of starter feed in the diet was responsible for the increased body fat content, but had no effect on protein or ash content. In conclusion, weight gain and N retention in calves up to 64 d of age increased with milk supply. Ad libitum access to starter further increased weight gain and N retention and no interaction with milk allowance level occurred. However, greater levels of milk are also associated with reduced starter feed intake, in addition to increased body fat content.

Huntington disease and Huntington disease-like in a case series from Brazil.

The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

Color flow Doppler sonography for the etiologic diagnosis of thyrotoxicosis.

The objective of this prospective study was to compare the results of color flow Doppler sonography (CFDS) and radioiodine scintigraphy in patients with thyrotoxicosis. A total of 176 patients, 102 with clinical thyrotoxicosis and 74 with subclinical dysfunction, were included. Pregnant and breast-feeding women, patients using amiodarone or recently exposed to iodinated contrast, and patients treated with antithyroid drugs were excluded. Total T3, free T4, TSH, and anti-TSH receptor antibodies were measured before scintigraphy and CFDS. Excluding one patient whose etiology of thyrotoxicosis remained undefined, CFDS showed 100% specificity. In fact, in all 10 cases in which scintigraphy and CFDS provided discordant results, the diagnosis suggested by the latter was correct. In patients with clinical thyrotoxicosis, the sensitivity of CFDS was 96% for diffuse toxic goiter, 95% for the absence of hyperfunction, and 100% for toxic nodular disease. In patients with subclinical dysfunction, the sensitivity of CFDS was 72.7% for diffuse toxic goiter, 90% for toxic adenoma, and 86.6% for toxic multinodular disease. CFDS was inconclusive in patients with parenchymal blood flow with patchy uneven distribution or with macronodules in which nodule vascularity compared to the remaining parenchyma did not permit to establish the diagnosis with certainty. CFDS can be used instead of scintigraphy not only in situations in which the latter is contraindicated or of limited value to define the etiology of thyrotoxicosis.

Partners of patients having a permanent colostomy should also receive attention from the healthcare team.

AIM: This study was carried out to determine how the partners of patients with a permanent colostomy perceive everyday life, particularly its sexual aspects. METHOD: Data were collected prospectively from October 2011 to May 2012 using a three-part questionnaire to obtain demographic, social and sexual information. Both multiple-choice and yes/no questions were used. RESULTS: One hundred and eight questionnaires were given to 36 partners of patients with a permanent colostomy (the ostomy group) and to 72 partners of normal individuals matched for age, sex and social class. The sexual performance of the spouse was significantly better in the control group (P = 0.004), sexual performance of the partner was also better in the control group (P = 0.023) and reduced frequency of sexual activity was higher in the ostomy group (P = 0.042). There was, however, no significant difference in sexual interest between the two groups (P = 0.507). CONCLUSION: The study demonstrated that about half of the partners of patients with a permanent colostomy experienced dissatisfaction with their spouse's performance, with a reduction in sexual interest and frequency of intercourse compared with the control group. Healthcare professionals should pay more attention to the partner of patients having a permanent colostomy.

Fracture resistance and stress distribution of simulated immature teeth after apexification with mineral trioxide aggregate.

AIM: To evaluate the effect of adhesive restorations on fracture resistance and stress distribution in teeth with simulated immature apices and apical plugs of mineral trioxide aggregate (MTA). METHODOLOGY: Sixty bovine incisors were sectioned 8 mm above and 12 mm below the cemento-enamel junction (CEJ). The root canal was enlarged using a diamond bur, resulting in remaining root canal walls with 0.1-0.2 mm of thickness. A 5-mm apical plug of MTA was placed and the teeth were restored according to the following groups: GP--the root canal was filled with gutta-percha and endodontic sealer; CR--the root canal was filled with light-cured composite resin inserted incrementally; FP--a fibre post was cemented into the root canal; and RFP--the fibre post was relined with composite resin prior to the cementation into the root canal. A load was applied on the crown of all teeth at 135° to their long axis until fracture. Data was analysed by one-way anova and SNK tests (α = 0.05), whilst the fracture pattern was evaluated according to the position of the fracture. Stress distributions in the restored teeth were verified by finite element analysis. RESULTS: Teeth restored with fibre posts and relined fibre posts were associated with the highest fracture resistance, whilst the GP group had the lowest values. GP and RC groups had similar fracture resistance values (P = 0.109). All fractures types involved the cervical and middle thirds of roots. The GP model had high levels of stress concentration in the cervical and middle thirds of roots. No difference was found amongst the stress concentration in the RC, FP and RFP models. CONCLUSION: Restorative protocols alter the fracture resistance and stress distribution of immature teeth after placement of MTA apical plugs.

Ex vivo evaluation of artifacts mimicking fracture lines on cone-beam computed tomography produced by different root canal sealers.

AIM: To evaluate streaking artifacts produced by several root canal sealers on CBCT images with variations in voxel resolution. METHODOLOGY: Single-rooted premolars were selected and root filled using gutta-percha cones and one of the following sealers: Endofill, Sealer 26, Fillapex or AH Plus. Root canals filled only with gutta-percha were used as control. Scans of teeth using a small-volume CBCT were performed, and the images acquired were evaluated by two calibrated observers (k > 0.75). Artifacts were identified as streaks and dark bands on root dentine in axial slices with 2 voxel sizes (0.076 and 0.2 mm). Fisher's exact test (P < 0.05) was used to compare the presence/absence ratio of artifacts considering the factors 'sealer' and 'voxel size'. RESULTS: For the 0.20 mm voxel size, Sealer 26 had significantly more artifacts than Fillapex (P = 0.006) or AH Plus (P = 0.017). No differences existed between the sealers when the 0.07 mm voxel size was used. Sealer 26 (P = 0.042) and Endofill (P = 0.035) had significantly more artifacts in the 0.20 mm voxel size than with the 0.076 mm voxel size, whilst no difference was noted for other filling conditions. CONCLUSIONS: The material used for root filling and the voxel resolution can influence the presence of streaking artifacts observed in CBCT images.