Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

BACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION: We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G¿>¿A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. CONCLUSIONS: The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described

Recent trends on glacier area retreat over the group of Nevados Caullaraju - Pastoruri (Cordillera Blanca, Peru) using Landsat imagery

The Cordillera Blanca, located in the central zone of the Andes Mountains in Peru, has shown a retreat in its glaciers. This paper presents a trend analysis of the glacier area over the groups of Nevados Caullaraju-Pastoruri from 1975 to 2010 using Landsat-5 Thematic Mapper (TM) imagery. In the case of the Nevados Pastoruri/Tuco, the study period was extended back to 1957 by using an aerial photograph taken that year. The extent of clean glacier ice was estimated using Normalized Difference Snow Index (NDSI) thresholds. Moreover, the estimation of debris-covered glacier ice was retrieved by means of a decision tree classification method using NDSI, Normalized Difference Vegetation Index (NDVI) and Land Surface Temperature (LST). Area estimations derived from Landsat imagery were compared to the glacier ground-truth data in 1975 and 2010. Results show a statistically significant (p < 0.05) decreasing trend over the whole study area. Total glacier area decreased at a rate of 4.5 km2 per decade from 1975 to 2010, with a total loss of 22.5 km2 (58%). Lower decreasing rates were found for the period 1987–2010: 3.5 km2 per decade with a total loss of 7.7 km2 (32.5%). In the case of the Nevados Pastoruri/Tuco, decreasing rates of clean ice extent were constant for the periods 1957–2010, 1975–2010 and 1987–2010, with values close to 1.4 km2 per decade and a total loss between 1957 and 2010 estimated at about 5 km2 (54%). This work shows an evident area decrease in the Caullaraju-Pastoruri tropical glaciers, which needs to be included in a future hydrological scenario of local adaptability and water management

Integration of Social, Cultural, and Biomedical Strategies into an Existing Couple-Based Behavioral HIV/STI Prevention Intervention: Voices of Latino Male Couples

Introduction Successful HIV prevention and treatment requires evidence-based approaches that combine biomedical strategies with behavioral interventions that are socially and culturally appropriate for the population or community being prioritized. Although there has been a push for a combination approach, how best to integrate different strategies into existing behavioral HIV prevention interventions remains unclear. The need to develop effective combination approaches is of particular importance for men who have sex with men (MSM), who face a disproportionately high risk of HIV acquisition. Materials and Methods We collaborated with Latino male couples and providers to adapt Connect ‘n Unite, an evidence-based intervention for Black male couples, for Latino male couples. We conducted a series of three focus groups, each with two cohorts of couples, and one focus group with providers. A purposive stratified sample of 20 couples (N = 40, divided into two cohorts) and 10 providers provided insights into how to adapt and integrate social, cultural, and biomedical approaches in a couples-based HIV/AIDS behavioral intervention. Results The majority (N = 37) of the couple participants had no prior knowledge of the following new biomedical strategies: non-occupational post-exposure prophylaxis (nPEP); pre-exposure prophylaxis (PrEP); and HIV self-testing kits. After they were introduced to these biomedical interventions, all participants expressed a need for information and empowerment through knowledge and awareness of these interventions. In particular, participants suggested that we provide PrEP and HIV self-testing kits by the middle or end of the intervention. Providers suggested a need to address behavioral, social and structural issues, such as language barriers; and the promotion of client-centered approaches to increase access to, adaptation of, and adherence to biomedical strategies. Corroborating what couple participants suggested, providers agreed that biomedical strategies should be offered after providing information about these tools. Regarding culturally sensitive and responsive approaches, participants identified stigma and discrimination associated with HIV and sexual identity as barriers to care, language barriers and documentation status as further barriers to care, the couple-based approach as ideal to health promotion, and the need to include family topics in the intervention. Discussion We successfully adapted an evidence-based behavioral HIV prevention intervention for Latino male couples. The adapted intervention, called Conectando Latinos en Pareja, integrates social, cultural, behavioral and biomedical strategies to address the HIV epidemic among Latino MSM. The study highlights the promise regarding the feasibility of implementing a combination approach to HIV prevention in this populatio

Parasitemia Levels in Trypanosoma cruzi Infection in Spain, an Area Where the Disease Is Not Endemic: Trends by Different Molecular Approaches

Trypanosoma cruzi infection has expanded globally through human migration. In Spain, the mother-to-child route is the mode of transmission contributing to autochthonous Chagas disease (CD); however, most people acquired the infection in their country of origin and were diagnosed in the chronic phase (imported chronic CD). In this context, we assessed the quantitative potential of the Loopamp Trypanosoma cruzi detection kit (Sat-TcLAMP) based on satellite DNA (Sat-DNA) to determine parasitemia levels compared to those detected by real-time quantitative PCRs (qPCRs) targeting Sat-DNA (Sat-qPCR) and kinetoplast DNA minicircles (kDNA-qPCR). This study included 173 specimens from 39 autochthonous congenital and 116 imported chronic CD cases diagnosed in Spain. kDNA-qPCR showed higher sensitivity than Sat-qPCR and Sat-TcLAMP. According to all quantitative approaches, parasitemia levels were significantly higher in congenital infection than in chronic CD (1 × 10-1 to 5 × 105 versus >1 × 10-1 to 6 × 103 parasite equivalents/mL, respectively [P < 0.001]). Sat-TcLAMP, Sat-qPCR, and kDNA-qPCR results were equivalent at high levels of parasitemia (P = 0.381). Discrepancies were significant for low levels of parasitemia and older individuals. Differences between Sat-TcLAMP and Sat-qPCR were not qualitatively significant, but estimations of parasitemia using Sat-TcLAMP were closer to those by kDNA-qPCR. Parasitemia changes were assessed in 6 individual cases in follow-up, in which trends showed similar patterns by all quantitative approaches. At high levels of parasitemia, Sat-TcLAMP, Sat-qPCR, and kDNA-qPCR worked similarly, but significant differences were found for the low levels characteristic of late chronic CD. A suitable harmonization strategy needs to be developed for low-level parasitemia detection using Sat-DNA- and kDNA-based tests. IMPORTANCE: Currently, molecular equipment has been introduced into many health care centers, even in low-income countries. PCR, qPCR, and loop-mediated isothermal amplification (LAMP) are becoming more accessible for the diagnosis of neglected infectious diseases. Chagas disease (CD) is spreading worldwide, and in countries where the disease is not endemic, such as Spain, the parasite Trypanosoma cruzi is transmitted from mother to child (congenital CD). Here, we explore why LAMP, aimed at detecting T. cruzi parasite DNA, is a reliable option for the diagnosis of congenital CD and the early detection of reactivation in chronic infection. When the parasite load is high, LAMP is equivalent to any qPCR. In addition, the estimations of T. cruzi parasitemia in patients living in Spain, a country where the disease is not endemic, resemble natural evolution in areas of endemicity. If molecular tests are introduced into the diagnostic algorithm for congenital infection, early diagnosis and timely treatment would be accomplished, so the interruption of vertical transmission can be an achievable goal.This research was supported by the Foundation for Innovative New Diagnostics (FIND), Geneva, Switzerland (WO klob-0003), and the Surveillance Program of Chagas Disease of the National Centre for Microbiology (CNM), Instituto de Salud Carlos III (ISCIII). CNM-ISCIII research team is supported by Fundación Mundo Sano, Spain (MVP 237/19). The ISGlobal research team is supported by the Agència de Gestió d’Ajuts Universitaris i de Recerca AGAUR) (2017 SGR 00924). ISGlobal is a member of the Centres de Recerca de Catalunya (CERCA) Programme, Government of Catalonia (Spain).S

Mexican design of a tokamak experimental facility

Mexico presents its proposal Tokamak Experimental Facility design under the necessary effort to develop Science and Technology into the thermonuclear magnetic confinement fusion area. This Research and Development Project (R+D) was approved by the Mexican Education Ministry (SEP, spanish acronyms) in 2007 for its actual development stage at Facultad de Ingenier´ıa Mec´anica y El´ectrica (FIME) - Universidad Aut´onoma de Nuevo Le´on (UANL).We have made this effort in order to unify and consolidate under a tokamak experimental configuration the Mexican Energy Fusion Program and generate an attractive scientific technological proposal to the mexican research centres with main objective to participate in ITER (International Thermonuclear Experimental Reactor) development. This present design aims to generate, innovate, understand and develop scientific and technological fusion knowledge, also to form researchers in fusion confinement area. We consider at this time that nuclear fusion represents an attractive, powerful and clean energy source. This R+D Project involves multidisciplinary physics and engineering areas that coexists into a nuclear fusion reactor, science and technology works together to establish a natural symbiosis between theory and experiments. Our tokamak facility design, at this time, is being developed and simulated under the use of COMSOL Multiphysics and 3D CAD software, all programs running under Gentoo GNU/Linux installed in our SGI Altix XE250 Platform. With this resources we can develop entirely systems involved in our magnetic confinement fusion research line, focused in the stronger application of engineering, technology and science concepts, developing systems and devices into this energy source generation. Taking advantage of this computational infrastructure we have proposed the possibility to participate throught this tokamak facility, studying and developing research over plasmas stability, confinement regimes and resonant magnetic field perturbation

MOA-2010-BLG-477Lb: constraining the mass of a microlensing planet from microlensing parallax, orbital motion and detection of blended light

Microlensing detections of cool planets are important for the construction of an unbiased sample to estimate the frequency of planets beyond the snow line, which is where giant planets are thought to form according to the core accretion theory of planet formation. In this paper, we report the discovery of a giant planet detected from the analysis of the light curve of a high-magnification microlensing event MOA-2010-BLG-477. The measured planet-star mass ratio is $q=(2.181\pm0.004)\times 10^{-3}$ and the projected separation is $s=1.1228\pm0.0006$ in units of the Einstein radius. The angular Einstein radius is unusually large $\theta_{\rm E}=1.38\pm 0.11$ mas. Combining this measurement with constraints on the "microlens parallax" and the lens flux, we can only limit the host mass to the range $0.13<M/M_\odot<1.0$. In this particular case, the strong degeneracy between microlensing parallax and planet orbital motion prevents us from measuring more accurate host and planet masses. However, we find that adding Bayesian priors from two effects (Galactic model and Keplerian orbit) each independently favors the upper end of this mass range, yielding star and planet masses of $M_*=0.67^{+0.33}_{-0.13}\ M_\odot$ and $m_p=1.5^{+0.8}_{-0.3}\ M_{\rm JUP}$ at a distance of $D=2.3\pm0.6$ kpc, and with a semi-major axis of $a=2^{+3}_{-1}$ AU. Finally, we show that the lens mass can be determined from future high-resolution near-IR adaptive optics observations independently from two effects, photometric and astrometric.Comment: 3 Tables, 12 Figures, accepted in Ap

Family History and Breast Cancer Hormone Receptor Status in a Spanish Cohort

Breast cancer is a heterogenous disease that impacts racial/ethnic groups differently. Differences in genetic composition, lifestyles, reproductive factors, or environmental exposures may contribute to the differential presentation of breast cancer among Hispanic women.A population-based study was conducted in the city of Santiago de Compostela, Spain. A total of 645 women diagnosed with operable invasive breast cancer between 1992 and 2005 participated in the study. Data on demographics, breast cancer risk factors, and clinico-pathological characteristics of the tumors were collected. Hormone receptor negative tumors were compared with hormone receptor postive tumors on their clinico-pathological characteristics as well as risk factor profiles.Among the 645 breast cancer patients, 78% were estrogen receptor-positive (ER+) or progesterone receptor-positive (PR+), and 22% were ER−&PR−. Women with a family history of breast cancer were more likely to have ER−&PR− tumors than women without a family history (Odds ratio, 1.43; 95% confidence interval, 0.91–2.26). This association was limited to cancers diagnosed before age 50 (Odds ratio, 2.79; 95% confidence interval, 1.34–5.81).An increased proportion of ER−&PR− breast cancer was observed among younger Spanish women with a family history of the disease

Intensification of Antiretroviral Therapy with a CCR5 Antagonist in Patients with Chronic HIV-1 Infection: Effect on T Cells Latently Infected

Objective: The primary objective was to assess the effect of MVC intensification on latently infected CD4+ T cells in chronically HIV-1-infected patients receiving antiretroviral therapy. Methods: We performed an open-label pilot phase II clinical trial involving chronically HIV-1-infected patients receiving stable antiretroviral therapy whose regimen was intensified with 48 weeks of maraviroc therapy. We analyzed the latent reservoir, the residual viremia and episomal 2LTR DNA to examine the relationship between these measures and the HIV-1 latent reservoir, immune activation, lymphocyte subsets (including effector and central memory T cells), and markers associated with bacterial translocation. Results: Overall a non significant reduction in the size of the latent reservoir was found (p = 0.068). A mean reduction of 1.82 IUPM was observed in 4 patients with detectable latent reservoir at baseline after 48 weeks of intensification. No effect on plasma residual viremia was observed. Unexpectedly, all the patients had detectable 2LTR DNA circles at week 24, while none of them showed those circles at the end of the study. No changes were detected in CD4+ or CD8+ counts, although a significant decrease was found in the proportion of HLA-DR+/CD38+ CD4+ and CD8+ T-cells. LPS and sCD14 levels increased. Conclusions: Intensification with MVC was associated with a trend to a decrease in the size of the latent HIV-1 reservoir in memory T cells. No impact on residual viremia was detected. Additional studies with larger samples are needed to confirm the results

Cultivos de invierno. Informes técnicos de INTA Balcarce 2019

Esta publicación reúne información sobre cultivos de invierno, generada durante la campaña 2018/19, con la participación de la Unidad Integrada Balcarce: Facultad de Ciencias Agrarias de la Universidad Nacional del Mar del Plata (FCA, UNMDP) y Estación Experimental Agropecuaria Balcarce del Instituto Nacional de Tecnología Agropecuaria (INTA Balcarce). La obra cubre una amplia gama temática incluyendo el análisis de las condiciones meteorológicas de la campaña; la evaluación del rendimiento, la estabilidad, la sanidad, la calidad y el efecto del nivel tecnológico sobre distintos cultivares y cultivos invernales; la comparación de rendimiento entre cultivares de trigo argentinos y paraguayos; la estimación del daño causado por heladas tardías en trigo; el estrés hídrico de soja intersembrada en trigo; la presentación de herramientas informáticas para facilitar la elección de cultivares de trigo y de cebada, en Argentina y en Paraguay; la descripción de cultivos ancestrales alternativos a los cultivos tradicionales y el reconocimiento a Agrónomos que dedicaron su vida profesional al trigo.EEA BalcarceFil: Abbate, Pablo Eduardo. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina. Universidad Nacional de Mar del Plata. Facultad de Ciencias Agrarias; Argentina.Fil: Ballesteros, Alberto Hugo María. Instituto Nacional de Semillas. Dirección de Registro de Variedades; ArgentinaFil: Bonomo, Adriana Julia. Instituto Nacional de Tecnología Agropecuaria (INTA). Gerencia de Informática y Gestión de la Información; ArgentinaFil: Cabral Farias, Carlos Alejandro. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Cambareri, Gustavo Sebastián. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Cambareri, Matías Alejandro. Universidad Nacional de Mar del Plata. Facultad de Ciencias Agrarias; Argentina.Fil: Carpaneto, Barbara Bettina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Chavez Sanabria, Pedro Ramón. Instituto Paraguayo de Tecnología Agraria Capitán Miranda; Paraguay.Fil: Conti, Veronica Andrea. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Bordenave; Argentina.Fil: Haros, Claudia Monica. Instituto de Agroquímica y Tecnología de Alimentos del Consejo Superior de Investigaciones Científicas de España; España.Fil: Kohli, Man Mohan. Cámara Paraguaya de Exportadores y Comercializadores de Cereales y Oleaginosas; Paraguay.Fil: Martino, Diana Laura. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina. Universidad Nacional de Mar del Plata. Facultad de Ciencias Agrarias; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Moreyra, Federico. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Bordenave; Argentina.Fil: Muñoz, Marcio Ezequiel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Ross, Fernando. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Barrow; Argentina