FOXE1 mutation screening in a case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A new syndrome?

A 26-year-old woman is referred to the Internal Medicine consultation due to increases in laboratory studies associated with Papillary Thyroid Carcinoma (PTC) that was confirmed by histopathological studies. Her clinical history revealed that, at 3 months of age, she was successfully treated with surgery for cleft lip (CL) and at the age of 24 years was diagnosed with hypothyroidism. Single nucleotide polymorphisms (SNPs) in FOXE1 and its promoter regions have been associated with various etiologies related to the thyroid, including orofacial clefting, specially cleft palate (CP) and CL, hypothyroidism (HT), and thyroid cancer. The association of CL, HT, and PTC might be component of a new syndrome; however FOXE1 coding region, which has been involved with these entities, has not exhibited mutations or SNPs. Further study of other genes may help in better characterization of the possible syndrome

Evaluation of Using Semi-Autonomy Features in Mobile Robotic Telepresence Systems

Mobile robotic telepresence systems used for social interaction scenarios require that users steer robots in a remote environment. As a consequence, a heavy workload can be put on users if they are unfamiliar with using robotic telepresence units. One way to lessen this workload is to automate certain operations performed during a telepresence session in order to assist remote drivers in navigating the robot in new environments. Such operations include autonomous robot localization and navigation to certain points in the home and automatic docking of the robot to the charging station. In this paper we describe the implementation of such autonomous features along with user evaluation study. The evaluation scenario is focused on the first experience on using the system by novice users. Importantly, that the scenario taken in this study assumed that participants have as little as possible prior information about the system. Four different use-cases were identified from the user behaviour analysis.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. Plan Nacional de Investigación, proyecto DPI2011-25483

Bone marrow-derived mesenchymal stem cells transplantation produces a tissue recovery in hydrocephalic mice

In congenital hydrocephalus, cerebrospinal fluid accumulation is associated to ischemia/hypoxia, metabolic impairment, neuronal damage and astrocytic reaction, which cause significant mortality and life-long neurological complications. Currently, there are no effective therapies for congenital hydrocephalus. Bone marrow-derived mesenchymal stem cells (BM-MSC) are considered as a potential therapeutic tool for neurodegenerative diseases due to their ability for migrating and producing neuroprotector factors when they are transplanted. The aim of this research was to study the ability of BM-MSC to reach the degenerated regions and to detect their neuroprotector effects, using an animal model of congenital hydrocephalus, the hyh mouse. Fluorescent BM-MSC were analyzed by flow-cytometry and multilineage cell differentiation. BM-MSC were brain-ventricle injected into hyh mice. Wild-type and saline-injected hyh mice were used as controls. Inmunohistochemical, RT-PCR and High Resolution Magic Angle Spinning spectroscopy (HRMAS) analyses were carried out. After administration, integrated BM-MSC were identified inside the periventricular astrocyte reaction. They were detected producing glial-derived neuroprotector factor (GDNF), neural growth factor (NGF), and brain-derived neuroprotector factor (BDNF). Tissue recovery was detected with a reduction of apoptotic cells in the periventricular walls and of the levels of glutamate, glutamine, taurine, and creatine, all of them markers of tissue damage in hydrocephalus.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. ISCIII PI15/00619 y FEDE

La atención básica a la salud y la asistencia a la Lepra en servicios de salud de un municipio del Estado de São Paulo

Este é um estudo descritivo desenvolvido em um município do Estado de São Paulo. Objetivo: identificar e caracterizar as ações do Programa de Controle da Hanseníase nos serviços de saúde municipais. Metodologia: entrevistas gravadas com gestor municipal de saúde e profissionais da assistência à hanseníase. Resultados: a política pública municipal em saúde prioriza o desenvolvimento da atenção básica com ênfase na saúde pública. As ações são realizadas por profissionais capacitados e experientes em hanseníase. Ve rificou-se a não realização da busca ativa dos casos, necessária para o real conhecimento da situação epidemiológica, e das ações de educação em saúde, importante para a redução do estigma e aproximação do sujeito à nova situação de vida e enfrentamento de limitaçõesThis descriptive study was carried out in a municipality of Sao Paulo State. The objective was to identify and to characterize the Leprosy Control Program in primary care in the city of research. Methodology: the interviews were conducted with professionals responsable for care in Hansen's Disease and with manager of public health policies. Results: the public health policies prioritize the development of primary care and emphasis on the public health. The control actions are held by trained and experient professionals. It emphasizes absence of active search for cases which undermines the real epidemiological situation, and the important health education to the reduction of stigma and bring the subject of adjustments necessary in new situation of life and overcome limitationsEste estudio descriptivo es una investigación que analizó la situación de la atención de la Lepra en un municipio del Estado de Sao Paulo. Objetivo: identificar y caracterizar las acciones del Programa de Control de Lepra de los servicios de salud de ese municipio. Metodología: se entrevistaron a los profesionales encargados de la atención de lepra y al director municipal de políticas de salud. Resultados: las políticas públicas municipales de salud priorizaron el desarrollo de la atención básica, con énfasis en la salud pública tradicional. Las acciones de control de lepra son realizadas por trabajadores capacitados y con significativa experiencia profesional. Se resalta la ausencia de busca activa de los casos, necesaria para un conocimiento real de la situación epidemiológica y la importancia de educación en salud, para reducir el estigma y aproximar el sujeto a las adaptaciones necesarias en la nueva situación de vida para afrontar las limitaciones

Correctors and Field Fluctuations for the pϵ(x)p_{\epsilon}(x)-Laplacian with Rough Exponents: The Sublinear Growth Case

A corrector theory for the strong approximation of gradient fields inside periodic composites made from two materials with different power law behavior is provided. Each material component has a distinctly different exponent appearing in the constitutive law relating gradient to flux. The correctors are used to develop bounds on the local singularity strength for gradient fields inside micro-structured media. The bounds are multi-scale in nature and can be used to measure the amplification of applied macroscopic fields by the microstructure. The results in this paper are developed for materials having power law exponents strictly between -1 and zero.Comment: 29 pages, 2 figures. arXiv admin note: substantial text overlap with arXiv:0907.073

A Systematic Literature Review on the Cost-Effectiveness of Apixaban for Stroke Prevention in Non-valvular Atrial Fibrillation

INTRODUCTION: Economic evaluations are becoming increasingly important due to limitations in economic resources, the expense of many new treatments, the need to allocate health spending as effectively as possible, and the need to inform decision makers. Based on the data from the apixaban studies (ARISTOTLE and AVERROES), several economic evaluations have been performed in various countries to demonstrate the efficacy of apixaban versus warfarin and aspirin or other new oral anticoagulants (NOACs) for preventing stroke in patients with non-valvular atrial fibrillation (NVAF).The aim of this study was to perform a systematic literature review of published economic evaluations with apixaban in the indication of stroke prevention in patients with NVAF. METHODS: A search in PubMed, Cochrane Library, Google Scholar, and Index Medicus Español was conducted in June 2015. Inclusion and exclusion criteria were established. The main characteristics were recorded for all relevant articles after being reviewed. In addition, a weighted version of the Drummond’s checklist was used to further assess the quality of the selected studies. RESULTS: After review, 26 cost-effectiveness analyses through Markov models were included; the identified economic evaluations represent different willingness-to-pay (WTP) thresholds, discount rates, medical costs, and healthcare systems. Apixaban was compared with warfarin/acenocoumarol in 7 of them (27%), with warfarin/NOACs in 14 (54%), with aspirin in 2 (8%), and with warfarin/aspirin in 3 (11%). Models were conducted from Europe (69%), USA (23%), Australia (4%), and Latin America (4%). All models reported cost/quality-adjusted life years (QALYs) gained, 92% reported using a payer perspective, and 8% using a societal perspective; the median quality score of the selected studies was 89 (out of 119), with a range of 55–103. In models performed in Europe, incremental cost-effectiveness ratios (ICERs) of apixaban versus warfarin ranged from €5607/QALY to €57,245/QALY, while ICERs versus aspirin ranged from being dominant to €7334/QALY. In models carried out in the USA, ICERs of apixaban versus warfarin ranged from being dominant to $93,063/QALY. CONCLUSION: Different cost-effectiveness analyses suggest that apixaban is a cost-effective therapeutic option according to the WTP thresholds used in countries where cost-effectiveness analyses, were performed. FUNDING: BMS and Pfizer. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s40119-016-0066-2) contains supplementary material, which is available to authorized users

Von Hippel-Lindau protein is required for optimal alveolar macrophage terminal differentiation, self-renewal, and function

The rapid transit from hypoxia to normoxia in the lung that follows the first breath in newborn mice coincides with alveolar macrophage (AM) differentiation. However, whether sensing of oxygen affects AM maturation and function has not been previously explored. We have generated mice whose AMs show a deficient ability to sense oxygen after birth by deleting Vhl, a negative regulator of HIF transcription factors, in the CD11c compartment (CD11c Delta Vhl mice). VHL-deficient AMs show an immature-like phenotype and an impaired self-renewal capacity in vivo that persists upon culture ex vivo. VHL-deficient phenotype is intrinsic in AMs derived from monocyte precursors in mixed bone marrow chimeras. Moreover, unlike control Vhl(fl/fl), AMs from CD11c Delta Vhl mice do not reverse pulmonary alveolar proteinosis when transplanted into Csf2rb(-/)(-) mice, demonstrating that VHL contributes to AM-mediated surfactant clearance. Thus, our results suggest that optimal AM terminal differentiation, self-renewal, and homeostatic function requires their intact oxygen-sensing capacity