Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

Purpose: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. Methods: Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy. Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. Exon 4 of the transforming growth factorinduced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing. We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme. Using this strategy, we analyzed the mutation in six affected and three healthy family members. Results: Three generations of family members were positively diagnosed with lattice corneal dystrophy. Six participants demonstrated LCD1 in both eyes, most of whom were symmetric. Age at onset of symptoms was variable (3–42 years old). Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation. Visual acuity varied from 1.0 to 0.13. Two patients, ages 69 and 44 years old, demonstrated a degree of severity “Bad” according to best-corrected vision and corneal commitment. The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF–induced protein. Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members. Conclusions: The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family. This is the first report of a molecular analysis of LCD type I in Chilean patients. The early onset affected persons in the fourth generation raises the possibility of anticipation.This research was supported by grant OAIC 203/06, Hospital Clínico de la Universidad de Chile José Joaquín Aguirre, Santiago de Chile, Chile

Mycosis Fungoides and Sézary Syndrome: An Integrative Review of the Pathophysiology, Molecular Drivers, and Targeted Therapy

Primary cutaneous T-cell lymphomas (CTCLs) constitute a heterogeneous group of diseases that affect the skin. Mycosis fungoides (MF) and Sézary syndrome (SS) account for the majority of these lesions and have recently been the focus of extensive translational research. This review describes and discusses the main pathobiological manifestations of MF/SS, the molecular and clinical features currently used for diagnosis and staging, and the different therapies already approved or under development. Furthermore, we highlight and discuss the main findings illuminating key molecular mechanisms that can act as drivers for the development and progression of MF/SS. These seem to make up an orchestrated constellation of genomic and environmental alterations generated around deregulated T-cell receptor (TCR)/phospholipase C, gamma 1, (PLCG1) and Janus kinase/ signal transducer and activator of transcription (JAK/STAT) activities that do indeed provide us with novel opportunities for diagnosis and therapy.This work was funded by grants from Instituto de Salud Carlos III (ISCIII), co-financed by FEDER: PI16/00156 and PI19/00204 to JPV, PI17/0957 to P.L.O.-R., J.P.V. and M.Á.P. also received private funding from the Asociación Luchamos Por La Vida (LPLV) and the Asociación Española Contra El Cancer (AECC), respectively. N.G.-D. was supported by a pre-doctoral contract from UC-IDIVAL

A Survey on 5G Usage Scenarios and Traffic Models

The fifth-generation mobile initiative, 5G, is a tremendous and collective effort to specify, standardize, design, manufacture, and deploy the next cellular network generation. 5G networks will support demanding services such as enhanced Mobile Broadband, Ultra-Reliable and Low Latency Communications and massive Machine-Type Communications, which will require data rates of tens of Gbps, latencies of few milliseconds and connection densities of millions of devices per square kilometer. This survey presents the most significant use cases expected for 5G including their corresponding scenarios and traffic models. First, the paper analyzes the characteristics and requirements for 5G communications, considering aspects such as traffic volume, network deployments, and main performance targets. Secondly, emphasizing the definition of performance evaluation criteria for 5G technologies, the paper reviews related proposals from principal standards development organizations and industry alliances. Finally, well-defined and significant 5G use cases are provided. As a result, these guidelines will help and ease the performance evaluation of current and future 5G innovations, as well as the dimensioning of 5G future deployments.This work is partially funded by the Spanish Ministry of Economy and Competitiveness (project TEC2016-76795-C6-4-R)H2020 research and innovation project 5G-CLARITY (Grant No. 871428)Andalusian Knowledge Agency (project A-TIC-241-UGR18)

Evaluation of a Test Dummy for Rehabilitation Platforms

[Resumen] Las terapias de rehabilitación para niños con Parálisis Cerebral han avanzado con la inclusión de los sistemas robóticos. Para iniciar estas terapias es necesario un estudio previo sobre la seguridad y fiabilidad de estos sistemas. En este estudio intervienen métodos de evaluación y ensayos para mejorar estos dispositivos. Así, se puede simular y comprobar si el funcionamiento se corresponde a lo deseado. Por la complejidad de obtener una respuesta realista y, al tratarse de niños, el desarrollo de modelos que imiten la anatomía humana es muy útil. En este contexto, se presenta el diseño y desarrollo de un maniquí pasivo para ensayar plataformas de rehabilitación de la marcha. Este prototipo representa las características antropométricas de un niño de 3 años, con movilidad en el miembro inferior. Con la plataforma de la marcha Discover2Walk se va a simular la caminata del maniquí. Los resultados al comparar el patrón obtenido tienen una desviación media por debajo de 3 cm, capacitando al maniquí como herramienta de ensayos.[Abstract] Rehabilitation therapies for toddlers with Cerebral Palsy have advanced with the incorporation of robotic systems. The initiation of these therapies requires previous studies on the safety and reliability of these systems. These studies involve evaluation and testing methods to improve the devices. This enables to simulate the performance and test whether it corresponds to the desired. Since it is complex to obtain a realistic response and, given that children are involved, the development of models that mimic human anatomy can be very useful. For this purpose, we present the design and development of a passive dummy to test gait rehabilitation platforms. This prototype represents the anthropometric characteristics of a 3-year-old toddler with mobility of the lower limb. The Discover2Walk gait training platform is used to simulate the dummy gait. The results after comparing the obtained pattern, measuring an error of 3%, qualify the dummy as a testing tool.Ministerio de Ciencia e Innovación; PID2019-105110RB-C3

Ocular Decompression Retinopathy with Macular Edema after Deep Sclerectomy with Intrascleral Implantation

We report a case of ocular decompression retinopathy (ODR) with macular edema, diagnosed by optical coherence tomography, after a deep sclerectomy (DS) with an intrascleral implant, resolved with medical therapy 6 months later. The medical literature reports that in 14% of patients suffering from ODR, a pars plana vitrectomy was required, and 15% of patients had a poor final visual acuity. An otherwise healthy 75-year-old man with high myopia and a primary open-angle glaucoma, with previous intraocular pressure (IOP) of 24 mm Hg, underwent a DS with intrascleral implant without complications. The patient suffered postoperatively from ODR with macular edema that required medical therapy with nonsteroidal anti-inflammatory eye drops (Nepafenac® 0.3%) for a period of 6 months. ODR is an infrequent complication that may occur after any surgical or medical procedure that causes a sudden IOP decrease. The presence of macular edema is only reported in 5% of cases and can occur in patients who report a decreased visual acuity, commonly associated with a retinal hemorrhage. We have described a case of ODR with macular edema after DS with intrascleral implant. Although ODR is considered to cause a low level of morbidity, in some patients this may not be the case

Conventional Cervical Exercises Compared with a Mixed-Reality-Based Game in Asymptomatic Subjects: An Exploratory Crossover Pilot Study.

Mixed reality presents itself as a potential technological tool for the management of people with musculoskeletal disorders, without having as many adverse side effects as immersive virtual reality. The objective of this study was to explore the possibilities of a mixed-reality game, performing task-oriented cervical exercises compared to conventional therapeutic exercises in sensorimotor outcome measures in asymptomatic subjects. A randomized crossover pilot study was performed with two intervention groups: a mixed-reality group (MRG) and a conventional exercise group (CEG). The cervical joint position error test (CJPET) and deep cervical flexor endurance test (DCFET) were measured as sensorimotor outcomes. Statistically significant differences were found in the pre–post comparison in the DCFET for both groups (MRG: t = �����3.87, p < 0.01; CEG: t = �����4.01, p < 0.01) and in the extension of the CJPET for the MRG (t = 3.50, p < 0.01). The rest of the measurements showed no significant differences comparing both groups pre- and postintervention (p > 0.05). Mixed reality has apparently the same positive effects as conventional exercises in sensorimotor outcomes in asymptomatic subjects. These results could help in future studies with mixed virtual reality in the management of people with musculoskeletal disorders.post-print882 K

Long-term infection passaging of Human Adenovirus 36 in monkey kidney cells

Human Adenovirus 36 (HAdV-36) has been related to diverse effects on metabolism and may attenuate the lipid accumulation in kidneys with increased adiposity. Some of these effects would be related to viral persistence. However, until now, a model of persistent in vitro infection by HAdV-36 is unknown. In this study, we examined the cells of the Vero lineage to explore their permissiveness to long-term HAdV-36 infection. HAdV-36 was productively replicated in Vero cells and maintained long-term infection for up to 35 cell passages. A subculture was obtained from the cells that survived the primary infection at a low MOI (0.5). The production of the extracellular infectious virus with titers ranging from 104 to 106 TCID50/mL and DNA-bearing cells was detected. In long-term infected cells, the intracellular distribution of viral antigen was demonstrated by performing immunolocalization (IFI) and expression of cell-viral antigen in 50% of cells by flow cytometry, using anti-HAdV-36 hyperimmune rabbit serum. Furthermore, E1a and E4orf1 genes in long-term infected passages showed a decreasing trend. Our preliminary results reveal that renal epithelial monkey cells are permissive for the productive infection of HAdV-36. Vero cell culture long-term infection might be a promising model for addressing the fundamental aspects of the HAdV-36 biology that cannot reveal broadly-used cultures, which do not maintain long-term infection in primary or transformed cells

Reset control with sector confinement for a lane change maneuver

The new features that are being added today in cars for assisted or autonomous driving tasks require a specific study that allows these tasks to be performed efficiently. Among these tasks, in this work the application of advanced control methods for the lane change maneuver is studied, obtaining better results than the classic methods which are inherently limited to fundamental limitations of the linear systems. An application of the reset method based on the linear confinement of trajectories is presented, which allows to reduce the error to zero quickly. This method is compared by simulation with another reset control method, the reset control with optimal reset. And then, the method is validate in CarSim.Agencia Estatal de Investigación | Ref. DPI2016-79278-C2-2-

Stomata regulation by tissue-specific expression of the Citrus sinensis MYB61 transcription factor improves water-use efficiency in Arabidopsis

Water-use efficiency (WUE) is a quantitative measurement of biomass produced per volume of water transpired by a plant. WUE is an important physiological trait for drought response to mitigate the water deficiency. In this work, a cisgenic construction from Citrus sinensis was developed and its function in the improvement of WUE was evaluated in Arabidopsis. Sequences of the CsMYB61 coding region, a transcription factor implicated in the closure of stomata, together with a putative stomata-specific promoter from CsMYB15, were identified and cloned. The protein encoded in the CsMYB61 locus harbors domains and motifs characteristic of MYB61 proteins. In addition, a 1.2 kb promoter region of the gene CsMYB15 (pCsMYB15) containing regulatory elements for expression in guard cells and in response to Abscisic Acid (ABA) and light was isolated. In Arabidopsis, pCsMYB15 directs the expression of the reporter gene GUS in stomata in the presence of light. In addition, transgenic lines expressing the CsMYB61 coding region under transcriptional control of pCsMYB15 have a normal phenotype under in vitro and greenhouse conditions. These transgenic lines exhibited a smaller opening of the stomata pore, lower stomatal conductance and respiration rate, enhanced sensitivity to exogenous ABA, and high drought stress tolerance. Our results indicate that stomata-specific expression of CsMYB61 enhances water use efficiency under drought conditions in Arabidospi