Engineering buffer layers to improve temperature resilience of magnetic tunnel junction sensors.

Improving the thermal resilience of magnetic tunnel junctions (MTJs) broadens their applicability as sensing devices and is necessary to ensure their operation under harsh environments. In this work, we are address the impact of temperature on the degradation of the magnetic reference in field sensor stacks based on MgO-MTJs. Our study starts by simple MnIr/CoFe bilayers to gather enough insights into the role of critical morphological and magnetic parameters and their impact in the temperature dependent behavior. The exchange bias coupling field (Hex), coercive field (Hc), and blocking temperature (Tb) distribution are tuned, combining tailored growth conditions of the antiferromagnet and different buffer layer materials and stackings. This is achieved by a unique combination of ion beam deposition and magnetron sputtering, without vaccum break. Then, the work then extends beyond bilayers into more complex state-of-the-art MgO MTJ stacks as those employed in commercial sensing applications. We systematically address their characteristic fields, such as the width of the antiferromagnetic coupling plateau ΔH, and study their dependence on temperature. Although, [Ta/CuN] buffers showed higher key performance indications (e.g.Hex) at room temperature in both bilayers and MTJs, [Ta/Ru] buffers showed an overall wider ΔHup to 200 °C, more suitable to push high temperature operations. This result highlights the importance of properly design a suitable buffer layer system and addressing the complete MTJ behavior as function of temperature, to deliver the best stacking design with highest resilience to high temperature environments.

Burden of non-communicable diseases and the achievement of the sustainable development goals in 2030 in Mercosur countries.

OBJECTIVES: The aims of this article were to analyse the burden of NCDs and their RFs in the Mercosur countries between 1990 and 2019 and to project mortality trends for 2030. STUDY DESIGN: Epidemiological study of time series. METHODS: The present study used data from the Global Burden of Disease study. The absolute number of deaths, mortality rates, disability-adjusted life years, years of life lost, years lived with disability and the burden of premature mortality by NCD attributable to the RFs were evaluated. Projections were made up to 2030. Age-standardised rates were used to draw comparisons by years and by countries. The analysis was conducted using the RStudio software. RESULTS: Between 1990 and 2019, a decrease was found in the premature mortality rates caused by NCDs in all the countries, except for Paraguay, which remained stable. When analysing premature mortality rates due to NCDs up to 2030, it was predicted that none of the countries would achieve the sustainable development goal of a one-third reduction in premature mortality by NCDs. Regarding the impacts of the RFs for NCDs, smoking, dietary risks, high blood pressure (BP) and high body mass index (BMI) were the main risks attributable to premature deaths due to NCDs. CONCLUSIONS: The results showed that mortality rates are declining in Mercosur countries; however, none of the countries are predicted to achieve the sustainable development goal of a one-third reduction in mortality due to NCDs by 2030. In addition to access to adequate treatment, progress is required in public regulation actions to reduce RFs, such as smoking, dietary risks, high BP and high BMI.

Genomic analyses for predicted milk fatty acid composition throughout lactation in North American Holstein cattle.

Milk fat composition has important implications in the nutritional and processing properties of milk. Additionally, milk fat composition is associated with cow physiological and health status. The main objectives of this study were (1) to estimate genetic parameters for 5 milk fatty acid (FA) groups (i.e., short-chain, medium-chain, long-chain, saturated, and unsaturated) predicted from milk infrared spectra using a large data set; (2) to predict genomic breeding values using a longitudinal single-step genomic BLUP approach; and (3) to conduct a single-step GWAS aiming to identify genomic regions, candidate genes, and metabolic pathways associated with milk FA, and consequently, to understand the underlying biology of these traits. We used 629,769 test-day records of 201,465 first-parity Holstein cows from 6,105 herds. A total of 8,865 genotyped (Illumina BovineSNP50K BeadChip, Illumina, San Diego, CA) animals were considered for the genomic analyses. The average daily heritability ranged from 0.24 (unsaturated FA) to 0.47 (medium-chain and saturated FA). The reliability of the genomic breeding values ranged from 0.56 (long-chain fatty acid) to 0.74 (medium-chain fatty acid) when using the default τ and ω scaling parameters, whereas it ranged from 0.58 (long-chain fatty acid) to 0.73 (short-chain fatty acid) when using the optimal τ and ω values (i.e., τ = 1.5 and ω = 0.6), as defined in a previous study in the same population. Relevant chromosomal regions were identified in Bos taurus autosomes 5 and 14. The proportion of the variance explained by 20 adjacent single nucleotide polymorphisms ranged from 0.71% (saturated FA) to 15.12% (long-chain FA). Important candidate genes and pathways were also identified. In summary, our results contribute to a better understanding of the genetic architecture of predicted milk FA in dairy cattle and reinforce the relevance of using genomic information for genetic analyses of these traits.

Short communication: Time-dependent genetic parameters and single-step genome-wide association analyses for predicted milk fatty acid composition in Ayrshire and Jersey dairy cattle.

Milk fat content and fatty acid (FA) composition have great economic value to the dairy industry as they are directly associated with taste and chemical-physical characteristics of milk and dairy products. In addition, consumers' choices are not only based on the nutritional aspects of food, but also on products known to promote better health. Milk FA composition is also related to the metabolic status and physiological stages of cows and thus can also be used as indicator for other novel traits of interest (e.g., metabolic diseases and methane yield). Genetic selection is a promising alternative to manipulate milk FA composition. In this study, we aimed to (1) estimate time-dependent genetic parameters for 5 milk FA groups (i.e., short-chain, medium-chain, long-chain, saturated, and unsaturated) predicted based on milk mid-infrared spectroscopy, for Canadian Ayrshire and Jersey breeds, and (2) conduct a time-dependent, single-step genome-wide association study to identify genomic regions, candidate genes, and metabolic pathways associated with milk FA. We analyzed 31,709 test-day records of 9,648 Ayrshire cows from 268 herds, and 34,341 records of 11,479 Jersey cows from 883 herds. The genomic database contained a total of 2,330 Ayrshire and 1,019 Jersey animals. The average daily heritability ranged from 0.18 (long-chain FA) to 0.34 (medium-chain FA) in Ayrshire, and from 0.25 (long-chain and unsaturated FA) to 0.52 (medium-chain and saturated FA) in Jersey. Important genomic regions were identified in Bos taurus autosomes BTA3, BTA5, BTA12, BTA13, BTA14, BTA16, BTA18, BTA20, and BTA21. The proportion of the variance explained by 20 adjacent SNP ranged from 0.71% (saturated FA) to 1.11% (long-chain FA) in Ayrshire, and from 0.70% (unsaturated FA) to 3.09% (medium-chain FA) in Jersey cattle. Important candidate genes and pathways were also identified, such as the PTK2 and TRAPPC9 genes, associated with milk fat percentage, and HMGCS, FGF10, and C6 genes, associated with fertility traits and immune response. Our findings on the genetic parameters and candidate genes contribute to a better understanding of the genetic architecture of milk FA composition in Ayrshire and Jersey dairy cattle.

The effect of CO2 9.3 µm short-pulsed laser irradiation in enamel erosion reduction with and without fluoride applications-a randomized, controlled in vitro study.

The aim of this in vitro study was to evaluate the protective effect of short-pulsed CO2 9.3 µm laser irradiation against erosion in human enamel without and combined with TiF4 and AmF/NaF/SnCl2 applications, respectively, as well as compared to the protective effect of these fluoride treatments alone. After polishing, ninety enamel samples (3 × 3mm) were used for 9 different treatment groups: 4% TiF4 gel (pH 1.5, 24,533 ppm F-); AmF/NaF/SnCl2 rinse (pH 4.5; 500 ppm F-, 800 ppm Sn2); CO2 laser (average power 0.58 W); CO2 laser (0.58 W) + TiF4; CO2 laser (0.58 W) + AmF/NaF/SnCl2; CO2 laser (0.69 W); CO2 laser (0.69 W) + TiF4; CO2 laser (0.69 W) + AmF/NaF/SnCl2; negative control (deionized water). TiF4 gel was brushed on only once before the first erosive cycling, while samples treated with AmF/NaF/SnCl2 were daily immersed in 5 ml of the solution before cycling. Laser treatment occurred with a CO2 laser (wavelength 9.3 µm, pulse repetition rate 100 Hz, pulse duration 14.6 µs/18 µs, average power 0.58 W/0.69 W, fluence 1.9 J/cm2/2.2 J/cm2, beam diameter 0.63 mm, irradiation time 10 s, air cooling). TiF4 was applied only once, while AmF/NaF/SnCl2 was applied once daily before the erosive challenge. Surface loss (in µm) was measured with optical profilometry immediately after treatment, and after 5 and 10 days of erosive cycling (0.5% citric acid, pH 2.3, 6 × 2 min/day). Additionally, scanning electron microscopy investigations were performed. All application measures resulted in loss of surface height immediately after treatment. After 5 days, significantly reduced surface loss was observed after applying laser irradiation (both power settings) followed by applications of TiF4 or AmF/NaF/SnCl2 solution (p < 0.05; 2-way ANOVA and Tukey test) compared to fluoride application alone. After 10 days, compared to after 5 days, a reduced tissue loss was observed in all groups treated with AmF/NaF/SnCl2 solution. This tissue gain occurred with the AmF/NaF/SnCl2 application alone and was significantly higher when the application was combined with the laser use (p < 0.05). Short-pulsed CO2 9.3 µm laser irradiation followed by additional application of AmF/NaF/SnCl2 solution significantly reduces the progression of dental enamel erosion in vitro.

Long-term decomposition of aqueous S-nitrosoglutathione and S-nitroso-N-acetylcysteine: Influence of concentration, temperature, pH and light.

Primary S-nitrosothiols (RSNOs) have received significant attention for their ability to modulate NO signaling in many physiological and pathophysiological processes. Such actions and their potential pharmaceutical uses demand a better knowledge of their stability in aqueous solutions. Herein, we investigated the effects of concentration, temperature, pH, room light and metal ions on the long-term kinetic behavior of two representative primary RSNOs, S-nitrosoglutathione (GSNO) and S-nitroso-N-acetylcysteine (SNAC). The thermal decomposition of GSNO and SNAC were shown to be affected by the auto-catalytic action of the thiyl radicals. At 25 °C in the dark and protected from the catalytic action of metal ions, GSNO and SNAC solutions 1 mM showed half-lives of 49 and 76 days, and apparent activation energies of 84 ±â€¯14 and 90 ±â€¯6 kJ mol-1, respectively. Both GSNO and SNAC exhibited increased stability in the pH range 5-7. At high pH the decomposition pathway of GSNO involves the formation of an intermediate (GS-NO22-), which decomposes generating GSH and nitrite. GSNO solutions displayed lower sensitivity to the catalytic action of metal ions than SNAC and the exposure to room light led to a 5-fold increase in the initial rates of decomposition of both RSNOs. In all comparisons, SNAC solutions showed higher stability than GSNO solutions. These findings provide strategic information about the stability of GSNO and SNAC and may open new perspectives for their use as experimental or therapeutic NO donors.

Genome-wide association studies pathway-based meta-analysis for residual feed intake in beef cattle.

Genome-wide association studies (GWASes) have been performed to search for genomic regions associated with residual feed intake (RFI); however inconsistent results have been obtained. A meta-analysis may improve these results by decreasing the false-positive rate. Additionally, pathway analysis is a powerful tool that complements GWASes, as it enables identification of gene sets involved in the same pathway that explain the studied phenotype. Because there are no reports on GWAS pathways-based meta-analyses for RFI in beef cattle, we used several GWAS results to search for significant pathways that may explain the genetic mechanism underlying this trait. We used an efficient permutation hypothesis test that takes into account the linkage disequilibrium patterns between SNPs and the functional feasibility of the identified genes over the whole genome. One significant pathway (valine, leucine and isoleucine degradation) related to RFI was found. The three genes in this pathway-methylcrotonoyl-CoA carboxylase 1 (MCCC1), aldehyde oxidase 1 (AOX1) and propionyl-CoA carboxylase alpha subunit (PCCA)-were found in three different studies. This same pathway was also reported in a transcriptome analysis from two cattle populations divergently selected for high and low RFI. We conclude that a GWAS pathway-based meta-analysis can be an appropriate method to uncover biological insights into RFI by combining useful information from different studies.

Insulin resistance and sex hormone-binding globulin are independently correlated with low free testosterone levels in obese males.

Male obesity is associated with decreased testosterone levels but the pathophysiological mechanisms behind this association are not completely understood. This study aimed to investigate the impact of hyperglycaemia/insulin resistance and sex hormone-binding globulin (SHBG) levels on testosterone levels in a population of obese men. We investigated the impact of several clinical, anthropometric and analytic measures on testosterone levels in 150 obese males. Testosterone deficiency was present in 52.0% of the enrolled patients. This percentage dropped to 17.6% when only calculated free testosterone (FT) was accounted, as SHBG levels were correlated negatively with body mass index (r = -.20; p < .05). Older age (p < .05) and higher homoeostasis model assessment of insulin resistance (HOMA-IR) (p < .01) and lower SHBG levels (p < .05) were independently correlated with lower FT. Weight and fasting plasma glucose lost their statistical significance after multivariate adjustment. Patients with type 2 diabetes mellitus and pre-diabetes had lower FT than those with normal glucose tolerance (p < .05 and p < .01 respectively). Insulin resistance, and not hyperglycaemia and weight per se, seems to be the main determinant of low testosterone levels in obese males. Low SHBG levels are correlated with low FT even after HOMA-IR adjustment. This suggests that SHBG can be associated with testosterone deficiency beyond the influence of insulin resistance unlike previously reported.

Unipolar Nonvolatile Resistive Switching in Pt/MgO/Ta/Ru Structures Deposited by Magnetron Sputtering.

The recent realization of memristors, nanodevices exhibiting non-volatile resistive switching, has sparked tremendous interest for applications in fields such as nonvolatile memories. Here we report unipolar resistive switching in Pt/MgO/Ta/Ru structures, with an oxide barrier thickness of only 15 nm. No electroforming process was required to achieve resistive switching and an ohmic conduction mechanism is associated with the ON state. We observed an inverse dependence of the ON state resistance on the SET current compliance and average values of 1.61 V and 1.38 V for the SET and RESET voltages, respectively. We show the stability of the switching for over 40 cycles and a clear separation of the ON (10¹ Ω) and OFF (10² Ω) states during at least 104 s.

Frequency of Application of AmF/NaF/SnCl2 Solution and Its Potential in Controlling Human Enamel Erosion Progression: An in situ Study.

Although several studies have demonstrated the efficacy of AmF/NaF/SnCl2 solution in inhibiting dental erosion progression, measures for further improvement in its effectiveness are paramount. Thus, this in situ study evaluated whether the protective effect promoted by the AmF/NaF/SnCl2 solution would be enhanced by increasing its frequency of use. The study was conducted with 12 volunteers, a 4-phase (5 days each) randomized, crossover model. Extraoral erosive challenges (0.5% citric acid, pH 2.6, 6 × 2 min/day) and rinsing protocol (1 or 2 × 2 min/day) were performed. Before the in situ phase, human enamel samples were subjected to an in vitro surface softening (1% citric acid, pH 4.0, for 3 min). Four treatment protocols were tested using samples in replicas (n = 12): group G1 - deionized water (negative control); G2 - NaF solution (positive control, 500 ppm F-, pH 4.5); G3 - AmF/NaF/SnCl2 solution (500 ppm F-, 800 ppm Sn2+, pH 4.5) once a day; G4 - AmF/NaF/SnCl2 solution twice a day. Tissue loss and morphological changes were determined by optical profilometry (n = 12) and scanning electron microscopy (n = 3) analysis, respectively. Data were statistically analyzed by ANOVA with subsequent pairwise comparison of treatments. Tissue loss means (±SD in µm) for each treatment protocol and statistical differences were found as follows: G1 4.55 ± 2.75, G2 4.59 ± 2.13, G3 2.64 ± 1.55, and G4 1.34 ± 1.16. Although there was no difference between the 2 AmF/NaF/SnCl2 solution application regimens (once or twice a day), application of the product twice a day was the only treatment that was able to control erosion progression, differing from the control groups.

Central and peripheral fat body mass have a protective effect on osteopenia or osteoporosis in adults and elderly?

UNLABELLED: This cross-sectional study involves randomly selected men aged 50 to 99 years and postmenopausal women. Either central fat mass or peripheral fat mass were associated to osteoporosis or osteopenia independently from fat-free body mass and other confounding factors. INTRODUCTION: Obesity and osteoporosis are public health problems that probably share common pathophysiological mechanisms. The question if body fat mass, central or peripheral, is protective or harmful for osteoporosis or osteopenia is not completely resolved. This study aims to investigate the association between osteoporosis or osteopenia, and fat body mass (central and peripheral) independently from fat-free body mass, in men aged 50 to 99 years old and postmenopausal women randomly selected in the community. METHODS: This is a cross-sectional investigation with a random sample of registered population in Niterói Family Doctor Program (FDP), State of Rio de Janeiro, Brazil. Bone mineral density (BMD) and fat-free mass were assessed by dual X-ray absorptiometry (DXA). RESULTS: There was statistically significant bivariate association between bone loss with gender, age, skin color, alcohol consumption at risk dose, use of thiazide, fat-free body mass, and fat body mass (central and peripheral). In the multiple analysis of fat-free body mass, central and peripheral fat body mass showed an independent and protective effect on the presence of osteoporosis or osteopenia (p value <0.001). CONCLUSION: Since both obesity and osteoporosis are public health problems worldwide, strategies aimed at preventing both conditions should be encouraged during aging.

Loss of mitochondrial SDHB expression: what is its role in diffuse thyroid lipomatosis?

Diffuse lipomatosis of the thyroid gland is a very rare disease, characterized by extensive infiltration of thyroid parenchyma by mature adipose tissue, usually not accompanied by amyloid fibrils deposition. The pathophysiology of adipose tissue infiltration in the thyroid gland remains unknown. We report a clinical case of a diffuse thyroid lipomatosis, whose immunohistochemical study of succinate dehydrogenase - subunit B (SDHB) revealed loss of expression of this protein in the follicular or adipose cells. We detected the presence of a recently described SDHB gene large deletion. Loss of mitochondrial SDHB expression may have a key role in understanding the pathophysiology of thyrolipomatosis, by regulating status of lipid metabolism.

IL-4 and IL-6 levels and adipose tissue distribution in HIV-1 patients under antiretroviral therapy.

PURPOSE: Combined antiretroviral therapy (cART) for the treatment of HIV-1 infection has been associated with complications, including lipodystrophy. Several interleukins have been implicated in the pathology and physiology of lipodystrophy. The present study aimed to compare the levels of IL-4 and IL-6 in HIV-1 patients under cART with and without, clinically and fat mass ratio defined, lipodystrophy and in four different groups of fat distribution: (1) no lipodystrophy; (2) isolated central fat accumulation; (3) isolated lipoatrophy and (4) mixed forms of lipodystrophy. METHODS: In the present cross-sectional study we evaluated IL-4 and IL-6 levels, insulin resistance and insulin sensitivity indexes in 86 HIV-infected adults under cART. RESULTS: No significant differences in IL-4 and IL-6 levels between the four groups of body composition were observed. Patients with HOMA-IR >4 presented higher levels of IL-6 and lower levels of IL-4, although without statistical significance. No correlation between IL-6, or IL-4, HOMA-IR and quantitative body fat mass distribution was found. CONCLUSION: Although there was a tendency for patients with isolated lipoatrophy and isolated fat accumulation to present higher IL-6 levels, these differences were not statistically significant. No differences were found relating IL-4 levels.

Antimutagenic action of the triterpene betulinic acid isolated from Scoparia dulcis (Scrophulariaceae).

The mutagenic and antimutagenic activities of triterpene betulinic acid {3b-3-hydroxy-lup-20(29)-en-28-oic} isolated from the roots of Scoparia dulcis (Scrophulariaceae) were analyzed using the somatic mutation and recombination test (SMART) in the wings of Drosophila melanogaster. The mutagenic potential of betulinic acid was evaluated at 3 different concentrations (1.64, 3.28, and 6.57 mM). Antimutagenic activity evaluation was performed by co-treatment trials in which the flies received betulinic acid at 3 different concentrations in addition to 10 mM pro-mutagenic urethane. The results demonstrated that betulinic acid was not capable of causing DNA damage. However, the frequency of small single spots, large spots, and twin spots was significantly reduced. In the high bioactivation cross, betulinic acid was significantly active and exerted enhanced antimutagenic activity, possibly as a desmutagen.

An isolate of the nematophagous fungus Monacrosporium thaumasium for the control of cattle trichostrongyles in south-eastern Brazil.

A mycelial formulation in sodium alginate pellets of the nematophagous fungus Monacrosporium thaumasium (isolate NF34A) was assessed in the biological control of beef cattle trichostrongyles in tropical Brazil. Two groups of ten male Nellore calves aged 6 months, a fungus-treated group and a control group, were fed on a pasture of Brachiaria decumbens naturally infected with larvae of cattle trichostrongyles. The fungus-treated group received doses of sodium alginate mycelial pellets orally (1 g pellets (0.2 g fungus)/10 kg live weight) twice a week for 12 months. At the end of the study there was a significant reduction (P< 0.01) in the number of eggs per gram of faeces and coprocultures of the fungus-treated group--47.8% and 50.2%, respectively--in relation to the control group. There was a 47.3% reduction in herbage samples, collected up to 0-20 cm from faecal pats, between the fungus-treated and control groups, and a 58% reduction when the sampling distance was 20-40 cm from faecal pats (P< 0.01). The treatment with sodium alginate pellets containing the nematode-trapping fungus M. thaumasium reduced trichostrongyles in tropical south-eastern Brazil and could be an effective tool for the biological control of this parasitic nematode in beef cattle. However, in such a tropical climate with low rainfall the fungal viability can be reduced.

CARDIOGENIC SHOCK AND GLOBUS PALLIDUS INJURY AS A PRESENTATION OF CARBON MONOXIDE POISONING.

Carbon monoxide poisoning is one of the leading causes of mortality and morbidity by poisoning in the world. Signs and symptoms are nonspecific and related to impaired oxygen delivery to tissues, with the brain being the most affected organ due to its high oxygen demand. CO-Hb is a poor indicator of severity and long-term outcome, with clinicians relying more on clinical features such as level of consciousness and need for intubation, organ dysfunction and shock and also pH level. A 45-year-old female was found unconscious in her home with the fireplace lit and smoke all over the house. She was last seen well 18 hours before. She was brought to the emergency department and was admitted to the ICU in coma and cardiogenic shock, with a metabolic acidosis with hyperlactacidemia and a CO-Hb level of 15.5%. Laboratorial investigation revealed hepatic cytolysis, acute renal failure, rhabdomyolysis and a troponin I level of 338 ng/L. ECG showed no acute myocardial ischemia. Echocardiogram revealed diffuse hypokinesia with an ejection fraction of 25%. Head CT scan showed bilateral and symmetrical hypodensities of the globus pallidus. The patient underwent hyperbaric oxygen treatment with full neurological and cardiac recovery, allowing extubation 48 hours after admission. This rare severe case of coma due to carbon monoxide intoxication with globus pallidus injury and cardiogenic shock was successfully treated with hyperbaric oxygen, showing that it can be the right treatment choice in these cases, with an excellent impact on neurological and cardiac outcome.

L'intoxication au CO est une des causes principales de décès par empoisonnement dans le monde. Les signes, non spécifiques, sont dus à l'hypoxie cellulaire et le cerveau est le plus souvent atteint en raison de sa consommation d'oxygène élevée. Le taux d'HbCO est un indice peu fiable de la gravité initiale et du risque de séquelles si bien que l'on préfère se baser sur la clinique (conscience, nécessité d'intubation, dysfonctions d'organe, choc) et le pH sanguin. Une femme de 45 ans a été trouvée inconsciente à son domicile entièrement enfumé, cheminée allumée. Le dernier contact remontait à 18 heures. Elle a été hospitalisée en réanimation en coma et choc cardiogénique, avec une acidose lactique et une HbCO à 15,5%. La biologie retrouvait une cytolyse hépatique, une insuffisance rénale aiguë, une rhabdomyolyse et une troponine I à 338 ng/L. L'ECG ne trouvait pas d'ischémie, l'échocardiographie objectivait une hypokinésie globale et évaluait la fraction d'éjection à 25%. La TDM cérébrale montrait une hypodensité pallidale bilatérale. L'oxygénothérapie hyperbare (OHB) a permis une récupération neurologique et cardiaque complètes, permettant l'extubation à h48. Cette récupération complète après OHB confirme qu'il peut s'agir du traitement idoine des intoxications graves au CO, avec un excellent impact sur les devenirs cardiaque et neurologique.

3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.

We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter→13q34::3p24→3pter)pat. Karyotype analysis of the father demonstrated a balanced translocation, 46,XY,t(3;13)(p24;q34), indicating the inheritance of the derivative chromosome 13. The mother karyotype was normal. We suggest that most of the structural malformations seen in this patient are due to the 3p trisomy, while the neuropsychomotor alterations are a consequence of both chromosome aberrations.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperandrogenism, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. A locus (BSCL1) has been mapped to 9q34 with evidence of heterogeneity. Here, we report a genome screen of nine BSCL families from two geographical clusters (in Lebanon and Norway). We identified a new disease locus, designated BSCL2, within the 2.5-Mb interval flanked by markers D11S4076 and D11S480 on chromosome 11q13. Analysis of 20 additional families of various ethnic origins led to the identification of 11 families in which the disease cosegregates with the 11q13 locus; the remaining families provide confirmation of linkage to 9q34. Sequence analysis of genes located in the 11q13 interval disclosed mutations in a gene homologous to the murine guanine nucleotide-binding protein (G protein), gamma3-linked gene (Gng3lg) in all BSCL2-linked families. BSCL2 is most highly expressed in brain and testis and encodes a protein (which we have called seipin) of unknown function. Most of the variants are null mutations and probably result in a severe disruption of the protein. These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

Flight radius and climatic conditions affect the external activity of stingless bee Melipona rufiventris (Lepeletier, 1836).

The objective of this study was to verify the flight radius and the influence of the climatic season and period of the day on the external activity of Melipona rufiventris bees. The forager bees were released at different distances to evaluate the flight radius. The following were considered for external activities in the four different seasons of the year (Winter, Autumn, Spring, Summer): the entry with no apparent load was considered as nectar/water, entry with defined and opaque mass in the corbicula was considered as pollen, the entry with undefined and shiny mass in the corbicula was considered as resin/clay or bee exit no load and removal of debris, mass trapped by the jaws. Assessments were performed between 6 am and 6 pm each month. M. rufiventris can reach distances of 2 500 meters, however the return decreases as the distance increases. The species performs all activities in and out of the colony during all seasons of the year and periods between 6 am and 6 pm but reduce nectar/water collection and exit from the box without apparent load and with debris between 6:00 am and 10 am in winter. It is concluded that distances greater than 1 500 meters hinder the external activity of bees which is influenced by air temperature, air humidity, time of day, season of the year and food availability.

Seebeck rectification enabled by intrinsic thermoelectrical coupling in magnetic tunneling junctions.

An intrinsic thermoelectric coupling effect in the linear response regime of magnetic tunneling junctions (MTJ) is reported. In the dc response, it leads to a nonlinear correction to Ohm's law. Dynamically, it enables a novel Seebeck rectification and second harmonic generation, which apply for a broad frequency range and can be magnetically controlled. A phenomenological model on the footing of the Onsager reciprocal relation and the principle of energy conservation explains very well the experimental results obtained from both dc and frequency-dependent transport measurements performed up to GHz frequencies. Our work refines previous understanding of magnetotransport and microwave rectification in MTJs. It forms a new foundation for utilizing spin caloritronics in high-frequency applications.