An Inexpensive Unmanned Aerial Vehicle-Based Tool for Mobile Network Output Analysis and Visualization.

Usage of Unmanned Aerial Vehicles (UAVs) for different tasks is widespread, as UAVs are affordable, easy to manoeuvre and versatile enough to execute missions in a reliable manner. However, there are still fields where UAVs play a minimal role regardless of their possibilities. One of these application domains is mobile network testing and measurement. Currently, the procedures used to measure the main parameters of mobile networks in an area (such as power output or its distribution in a three-dimensional space) rely on a team of specialized people performing measurements with an array of tools. This procedure is significantly expensive, time consuming and the resulting outputs leave a higher degree of precision to be desired. An open-source UAV-based Cyber-Physical System is put forward that, by means of the Galileo satellite network, a Mobile Data Acquisition System and a Graphical User Interface, can quickly retrieve reliable data from mobile network signals in a three-dimensional space with high accuracy for its visualization and analysis. The UAV tested flew at 40.43 latitude and -3.65 longitude degrees as coordinates, with an altitude over sea level of around 600-800 m through more than 40 mobile network cells and signal power displayed between -75 and -113 decibels.

A Review of Genetic Polymorphisms and Susceptibilities to Complications after Aneurysmal Subarachnoid Hemorrhage.

Delayed cerebral ischemia (DCI) and vasospasm are two complications of subarachnoid hemorrhages (SAHs) which entail high risks of morbidity and mortality. However, it is unknown why only some patients who suffer SAHs will experience DCI and vasospasm. The purpose of this review is to describe the main genetic single nucleotide polymorphisms (SNPs) that have demonstrated a relationship with these complications. The SNP of the nitric oxide endothelial synthase (eNOS) has been related to the size and rupture of an aneurysm, as well as to DCI, vasospasm, and poor neurological outcome. The SNPs responsible for the asymmetric dimetilarginine and the high-mobility group box 1 have also been associated with DCI. An association between vasospasm and the SNPs of the eNOS, the haptoglobin, and the endothelin-1 receptor has been found. The SNPs of the angiotensin-converting enzyme have been related to DCI and poor neurological outcome. Studies on the SNPs of the Ryanodine Receptor yielded varying results regarding their association with vasospasm.

Cardiovascular mortality and cardiovascular event rates in patients with inflammatory rheumatic diseases in the CARdiovascular in rheuMAtology (CARMA) prospective study-results at 5 years of follow-up.

OBJECTIVES: To determine cardiovascular (CV) mortality and incidence of the first CV event (CVE) in patients with chronic inflammatory rheumatic diseases (CIRD) after 5 years of follow-up. METHODS: This is an analysis of the CARdiovascular in rheMAatology (CARMA) study after 5 years of follow-up. It includes patients with RA (n = 775), AS (n = 738) and PsA (n = 721), and individuals without CIRD (n = 677) attending outpatient rheumatology clinics from 67 public hospitals in Spain. Descriptive analyses were performed for the CV mortality at 5 years. The Systematic COronary Risk Evaluation (SCORE) function at 5 years was calculated to determine the expected risk of CV mortality. Poisson models were used to estimate the incidence rates of the first CVE. Hazard ratios of the risk factors involved in the development of the first CVE were evaluated using the Weibull proportional hazard model. RESULTS: Overall, 2382 subjects completed the follow-up visit at 5 years. Fifteen patients died due to CVE. CV deaths observed in the CIRD cohort were lower than that predicted by SCORE risk charts. The highest incidence rate of CVE [7.39 cases per 1000 person-years (95% CI 4.63, 11.18)] was found in PsA patients. However, after adjusting for age, sex and CV risk factors, AS was the inflammatory disease more commonly associated with CVE at 5 years [hazard ratio 4.60 (P =0.02)], compared with those without CIRD. CONCLUSIONS: Cardiovascular mortality in patients with CIRD at 5 years of follow-up is lower than estimated. Patients with AS have a higher risk of developing a first CVE after 5 years of follow-up.

Correlation between disease severity factors and EQ-5D utilities in chronic obstructive pulmonary disease.

PURPOSE: Impaired health-related quality of life (HRQoL) is associated with poor health outcomes in chronic obstructive pulmonary disease (COPD). The aim of this study was to determine health utilities in patients with COPD and to identify the variables with the greatest impact. METHODS: This is a pooled analysis of data from 4 observational studies performed in stable COPD patients. Evaluation of patient HRQoL utilities was performed using the Spanish version of the self-administered EuroQoL 5 Dimensions (EQ-5D) questionnaire. EQ-5D utilities were described and compared according to several markers of disease severity. RESULTS: 6198 patients reported a mean (SD) EQ-5D index of 0.67 (0.26). A linear dose response relationship between EQ-5D utility and modified Medical Research Council (mMRC) score, forced expiratory volume in one 1 s (% predicted), COPD hospital admissions in the previous year, self-reported daily walking time, Charlson index, body mass index, obstruction, dyspnoea and exacerbation (BODEx) index, COPD assessment test (CAT), hospital anxiety and depression scale was observed (p for trend < 0.001). In multivariate analysis, patients reporting lower utility values were those with more dyspnoea, more comorbidities, using long-term oxygen therapy, with previous hospitalisations due to a COPD exacerbation and higher (worse) CAT score. CONCLUSION: HRQoL measures such as EQ-5D can assist clinicians to understand the impact of respiratory disease on COPD patients.

Familial 3-Way Balanced Translocation Causes 1q43→qter Loss and 10q25.2→qter Gain in a Severely Affected Male Toddler.

Constitutional complex chromosomal rearrangements (CCRs) are rare events that typically involve 2 or more chromosomes with at least 3 breakpoints and can result in normal or abnormal phenotypes depending on whether they disturb the euchromatic neighborhood. Here, we report an unusual balanced CCR involving chromosomes 1, 9, and 10 that causes an unbalanced karyotype in a severely affected toddler. The CCR was initially reported as a maternal 2-way translocation but was reclassified as a 3-way translocation after a microarray analysis of the propositus revealed the involvement of another chromosome not identified by G-banding in his phenotypically normal mother. FISH assays on maternal metaphase cells confirmed that the 1qter region of der(1) was translocated to der(10), whereas the 10qter segment was translocated to der(9), which in turn donated a segment to der(1). Subsequently, this CCR was also identified in her phenotypically normal father (the patient's grandfather). Thus, the patient inherited the previously unreported pathogenic combination of der(1) with a loss of 1q43→qter (including AKT3, ZBTB18, HNRNPU, and SMYD3) and der(9) with a gain of 10q25.2→qter (including FGFR2), leading to a compound phenotype with key features of the 1q43→qter deletion and distal 10q trisomy syndromes. Our observations suggest that the loss of SMYD3 accounts for cardiac defects in a subset of patients. Moreover, due to recurrent miscarriages in this family, our findings allowed improved genetic counseling.

Incidence of first cardiovascular event in Spanish patients with inflammatory rheumatic diseases: prospective data from the CARMA project.

OBJECTIVES: To determine the incidence and risk factors of first cardiovascular event (CVE) in patients with chronic inflammatory rheumatic diseases (CIRD). METHODS: Analysis of data after 2.5 years of follow-up from the prospective study CARMA project, that includes patients with CIRD [rheumatoid arthritis (RA), ankylosing spondylitis (AS), and psoriatic arthritis (PsA)] and matched individuals without CIRD from 67 hospitals in Spain. CVE cumulative incidence per 1000 patients was calculated after 2.5 years from the start of the project. Weibull proportional hazard model was used to calculate hazard ratio (HR) and 95% confidence interval (95% CI) of the risk factors. RESULTS: 2595 (89.1%) patients completed the 2.5 years of follow-up visit. Cumulative incidence of CVE in patients with CIRD was 15.30 cases per 1000 patients (95% CI: 12.93-17.67), being higher in the subgroup with AS; 22.03 (95% CI: 11.01-33.04). Patients with AS (HR: 4.11; 95% CI: 1.07-15.79), those with older age (HR: 1.09; 95% CI: 1.05-1.13), systolic hypertension (HR: 1.02; 95% CI: 1.00-1.04) and long duration of the disease (HR: 1.07; 95% CI: 1.03-1.12) were at higher risk of first CVE during the 2.5 years of follow-up. In contrast, female gender was a protective factor (HR: 0.43; 95% CI: 0.18-1.00). CONCLUSIONS: Among CIRD patients prospectively followed-up at rheumatology outpatient clinics, those with AS show higher risk of first CVE. Besides cardiovascular risk factors, such as hypertension, being a man and older as well as having a long disease duration increase the risk of CVE in patients with CIRD.

A Mission Planning Approach for Precision Farming Systems Based on Multi-Objective Optimization.

As the demand for food grows continuously, intelligent agriculture has drawn much attention due to its capability of producing great quantities of food efficiently. The main purpose of intelligent agriculture is to plan agricultural missions properly and use limited resources reasonably with minor human intervention. This paper proposes a Precision Farming System (PFS) as a Multi-Agent System (MAS). Components of PFS are treated as agents with different functionalities. These agents could form several coalitions to complete the complex agricultural missions cooperatively. In PFS, mission planning should consider several criteria, like expected benefit, energy consumption or equipment loss. Hence, mission planning could be treated as a Multi-objective Optimization Problem (MOP). In order to solve MOP, an improved algorithm, MP-PSOGA, is proposed, taking advantages of the Genetic Algorithms and Particle Swarm Optimization. A simulation, called precise pesticide spraying mission, is performed to verify the feasibility of the proposed approach. Simulation results illustrate that the proposed approach works properly. This approach enables the PFS to plan missions and allocate scarce resources efficiently. The theoretical analysis and simulation is a good foundation for the future study. Once the proposed approach is applied to a real scenario, it is expected to bring significant economic improvement.

An Optimized, Data Distribution Service-Based Solution for Reliable Data Exchange Among Autonomous Underwater Vehicles.

Major challenges are presented when managing a large number of heterogeneous vehicles that have to communicate underwater in order to complete a global mission in a cooperative manner. In this kind of application domain, sending data through the environment presents issues that surpass the ones found in other overwater, distributed, cyber-physical systems (i.e., low bandwidth, unreliable transport medium, data representation and hardware high heterogeneity). This manuscript presents a Publish/Subscribe-based semantic middleware solution for unreliable scenarios and vehicle interoperability across cooperative and heterogeneous autonomous vehicles. The middleware relies on different iterations of the Data Distribution Service (DDS) software standard and their combined work between autonomous maritime vehicles and a control entity. It also uses several components with different functionalities deemed as mandatory for a semantic middleware architecture oriented to maritime operations (device and service registration, context awareness, access to the application layer) where other technologies are also interweaved with middleware (wireless communications, acoustic networks). Implementation details and test results, both in a laboratory and a deployment scenario, have been provided as a way to assess the quality of the system and its satisfactory performance.

Maritime Data Transfer Protocol (MDTP): A Proposal for a Data Transmission Protocol in Resource-Constrained Underwater Environments Involving Cyber-Physical Systems.

The utilization of autonomous maritime vehicles is becoming widespread in operations that are deemed too hazardous for humans to be directly involved in them. One of the ways to increase the productivity of the tools used during missions is the deployment of several vehicles with the same objective regarding data collection and transfer, both for the benefit of human staff and policy makers. However, the interchange of data in such an environment poses major challenges, such as a low bandwidth and the unreliability of the environment where transmissions take place. Furthermore, the relevant information that must be sent, as well as the exact size that will allow understanding it, is usually not clearly established, as standardization works are scarce in this domain. Under these conditions, establishing a way to interchange information at the data level among autonomous maritime vehicles becomes of critical importance since the needed information, along with the size of the transferred data, will have to be defined. This manuscript puts forward the Maritime Data Transfer Protocol, (MDTP) a way to interchange standardized pieces of information at the data level for maritime autonomous maritime vehicles, as well as the procedures that are required for information interchange.

[Psychopathology screening in medical school students]. / Sistema de tamizaje de psicopatología en estudiantes de Medicina.

OBJECTIVE: Screening of psychopathology and associated factors in medical students employing an electronic self-report survey. METHOD: A transversal, observational, and comparative study that consisted of the following instruments: Sociodemographic survey; 2. Adult Self-Report Scale-V1 (ASRS); State-Trait Anxiety Inventory (STAI); Zung and Conde Self-Rating Depression Scale, Almonte-Herskovic Sexual Orientation Self-Report; Plutchik Suicide Risk Scale; Alcohol Use Disorders Identification Test Identification (AUDIT); Fagerström Test for Nicotine Dependence; 9. Maslach Burnout Inventory (MBI); Eating Disorder Inventory 2 (EDI). RESULTS: We gathered 323 student surveys from medical students of the first, third and sixth grades. The three more prevalent disorders were depression (24%), attention deficit disorders with hyperactivity (28%) and anxiety (13%); the prevalence of high-level burnout syndrome was 13%. Also, the fifth part of the students had detrimental use of tobacco and alcohol. CONCLUSION: Sixty percent of medical students had either one or more probable disorder or burnout. An adequate screening and treatment of this population could prevent severe mental disorders and the associated factors could help us to create a risk profile. This model is an efficient research tool for screening and secondary prevention.

Prevalence, Vascular Distribution, and Multiterritorial Extent of Subclinical Atherosclerosis in a Middle-Aged Cohort: The PESA (Progression of Early Subclinical Atherosclerosis) Study.

BACKGROUND: Data are limited on the presence, distribution, and extent of subclinical atherosclerosis in middle-aged populations. METHODS AND RESULTS: The PESA (Progression of Early Subclinical Atherosclerosis) study prospectively enrolled 4184 asymptomatic participants 40 to 54 years of age (mean age, 45.8 years; 63% male) to evaluate the systemic extent of atherosclerosis in the carotid, abdominal aortic, and iliofemoral territories by 2-/3-dimensional ultrasound and coronary artery calcification by computed tomography. The extent of subclinical atherosclerosis, defined as presence of plaque or coronary artery calcification ≥1, was classified as focal (1 site affected), intermediate (2-3 sites), or generalized (4-6 sites) after exploration of each vascular site (right/left carotids, aorta, right/left iliofemorals, and coronary arteries). Subclinical atherosclerosis was present in 63% of participants (71% of men, 48% of women). Intermediate and generalized atherosclerosis was identified in 41%. Plaques were most common in the iliofemorals (44%), followed by the carotids (31%) and aorta (25%), whereas coronary artery calcification was present in 18%. Among participants with low Framingham Heart Study (FHS) 10-year risk, subclinical disease was detected in 58%, with intermediate or generalized disease in 36%. When longer-term risk was assessed (30-year FHS), 83% of participants at high risk had atherosclerosis, with 66% classified as intermediate or generalized. CONCLUSIONS: Subclinical atherosclerosis was highly prevalent in this middle-aged cohort, with nearly half of the participants classified as having intermediate or generalized disease. Most participants at high FHS risk had subclinical disease; however, extensive atherosclerosis was also present in a substantial number of low-risk individuals, suggesting added value of imaging for diagnosis and prevention. CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT01410318.

Management and referral of patients with severe and poorly controlled asthma in primary care.

BACKGROUND: Over 50% of treated patients with asthma in Europe are not well controlled. Their management in primary health care (PHC) differs from that in specialized care, and there is no real coordination between the two. OBJECTIVES: To identify barriers and solutions to improving the management of patients with severe and poorly controlled asthma and the communication between specialists and PHC, and to reach a consensus on the criteria for referral patients. METHODS: An observational study using a modified Delphi technique. About 79 physicians from PHC, pneumology and allergy fields from different Spanish regions were invited to participate via an online questionnaire. Consensus was reached on an item when more than two-thirds of the panel members scored within the 3-point category (1-3 or 7-9) containing the median and the interquartile range of answers had to be ≤4 points. RESULTS: Response rate: 52%. After the second round, consensus items were 40 (62.5%): of which 37 in agreement and 3 in disagreement. Around 92.68% of respondents agreed that it would be useful to incorporate questionnaires for asthma control into PHC computer-based searches. About 100% of participants agreed that clear consensus criteria between PHC and specialists must be determined to decide when a patient with asthma is referred from PHC to specialist or vice versa. Ten of the proposed criteria reached consensus agreement. CONCLUSION: The failure to use guidelines and specific questionnaires for asthma control in PHC is one reason why there is underdiagnosis and poor control of asthma. Some strategies to improve the asthma care management emerged from the survey results.

A Survey on Intermediation Architectures for Underwater Robotics.

Currently, there is a plethora of solutions regarding interconnectivity and interoperability for networked robots so that they will fulfill their purposes in a coordinated manner. In addition to that, middleware architectures are becoming increasingly popular due to the advantages that they are capable of guaranteeing (hardware abstraction, information homogenization, easy access for the applications above, etc.). However, there are still scarce contributions regarding the global state of the art in intermediation architectures for underwater robotics. As far as the area of robotics is concerned, this is a major issue that must be tackled in order to get a holistic view of the existing proposals. This challenge is addressed in this paper by studying the most compelling pieces of work for this kind of software development in the current literature. The studied works have been assessed according to their most prominent features and capabilities. Furthermore, by studying the individual pieces of work and classifying them several common weaknesses have been revealed and are highlighted. This provides a starting ground for the development of a middleware architecture for underwater robotics capable of dealing with these issues.

[Patients with subarachnoid haemorrhage in poor grade neurological status: Study of prognostic factors]. / Pacientes con hemorragia subaracnoidea en mala situación neurológica, estudio de factores pronósticos.

OBJECTIVE: To evaluate and predict factors influencing prognosis and/or clinical outcome at 6 months in patients with spontaneous subarachnoid haemorrhage, World Federation of Neurosurgical Societies (WFNS) grades iv and v. MATERIAL AND METHODS: This was a retrospective study of a consecutive series of 394 patients admitted to our hospital with clinical and radiological diagnosis of spontaneous subarachnoid haemorrhage, from 1 January 1999 to 30 June 2009. We selected 121 patients who met the criteria of being in WFNS grades iv or v before treatment; 3 patients were excluded due to loss of tracking. The outcome variable was assessed 6 months after the event using the Glasgow Outcome Scale. A P value<.05 was considered statistically significant. RESULTS: One hundred and twenty-one patients were included in the statistical analysis. The average age of the patients in the series was 54 years (14-92). Patients who had a mean Glasgow Coma Scale lower than 7 points (P<.0001), those who were grade v (P<.0001) in the pre-treatment WFNS scale and those with pupillary disorder (P=.002) had a worse clinical outcome. Likewise, those with associated intraparenchymal hematoma (P=.020) and those not receiving any treatment (P=.020) were also associated with a poor clinical outcome. These results were statistically significant. CONCLUSIONS: Patients admitted with a WFNS grade v and/or presenting pupil disorder and/or intraparenchymal hematoma were associated with worse clinical outcomes.

Anterior Interhemispheric Approach for the Surgical Treatment of Azygos Anterior Cerebral Artery Aneurysms: A Case Series.

The azygos artery is an uncommon vascular variant of the anterior cerebral artery (ACA). This anomaly is associated in a high percentage with aneurysms. Management of azygos ACA aneurysms represents a surgical challenge. We present five patients who underwent microsurgical treatment for distal azygos ACA aneurysms with complex morphology. Four patients showed subarachnoid hemorrhage (SAH) and one complained of sentinel headache. Early preoperative digital subtraction angiography (DSA) or computerized tomography angiography (CTA) was performed. All patients were treated by surgical clipping via an anterior interhemispheric approach. During follow-up, all patients had a satisfactory outcome, with postoperative angiograms showing complete resolution of aneurysms.

Full kinetic modeling analysis of [18F]fluorocholine Positron Emission Tomography (PET) at initial diagnosis of high-grade glioma.

PURPOSE: The main objective was to characterize the tracer uptake kinetics of [18F]fluoromethylcholine ([18F]F-CHO) in high-grade gliomas (HGG) through a full PET kinetic modeling approach. Secondarily, we aimed to explore the relationship between the PET uptake measures and the HGG molecular features. MATERIALS AND METHODS: Twenty-four patients with a suspected diagnosis of HGG were prospectively included. They underwent a dynamic brain [18F]F-CHO-PET/CT, from which a tumoral time-activity curve was extracted. The plasma input function was obtained through arterial blood sampling with metabolite correction. These data were fitted to 1- and 2-tissue-compartment models, the best of which was selected through the Akaike information criterion. We assessed the correlation between the kinetic parameters and the conventional static PET metrics (SUVmax, SUVmean and tumor-to-background ratio TBR). We explored the association between the [18F]F-CHO-PET quantitative parameters and relevant molecular biomarkers in HGG. RESULTS: Tumoral time-activity curves in all patients showed a rapid rise of [18F]F-CHO uptake followed by a plateau-like shape. Best fits were obtained with near-irreversible 2-tissue-compartment models. The perfusion-transport constant K1 and the net influx rate Ki showed strong correlation with SUVmax (r = 0.808-0.861), SUVmean (r = 0.794-0.851) and TBR (r = 0.643-0.784), p < 0.002. HGG was confirmed in 21 patients, of which those with methylation of the O-6-methylguanine-DNA methyltransferase (MGMT) gene promoter showed higher mean Ki (p = 0.020), K1 (p = 0.025) and TBR (p = 0.001) than the unmethylated ones. CONCLUSION: [18F]F-CHO uptake kinetics in HGG is best explained by a 2-tissue-compartment model. The conventional static [18F]F-CHO-PET measures have been validated against the perfusion-transport constant (K1) and the net influx rate (Ki) derived from kinetic modeling. A relationship between [18F]F-CHO uptake rate and MGMT methylation is suggested but needs further confirmation.

Clinical outcomes of switching to adalimumab biosimilar (MSB11022) in patients with rheumatoid arthritis: RESTART Spanish Registry.

OBJECTIVE: MSB11022 is a biosimilar of adalimumab that has been shown comparable bioequivalence, safety, tolerability, and immunogenicity profiles to the reference adalimumab in healthy volunteers or in patients with psoriasis or rheumatoid arthritis (RA). This is the first study conducted under clinical practice conditions evaluating the switch from reference adalimumab to MSB11022 in patients with RA. METHODS: Retrospective and multicenter study with data from the medical records of patients with RA who switched from reference adalimumab or another biosimilar to MSB11022 and maintained this treatment for at least 6 months. Information registered comes from baseline visit, the moment of the switch, and the follow-up visits. RESULTS: Data from 86 patients were evaluated (median age 63.5 years, 75.6% female, 44.2% had erosive RA). Only 3.5% of the patients received biologic therapy prior to adalimumab. At baseline, median DAS28-CRP was 1.77 (80.2% in remission and 96.5% with low disease activity) and median CDAI was 4.00 (44.2% in remission and 90.7% with low disease activity). After a median follow-up of 8 months, median DAS28-CRP was 1.87 (86.0% in remission and 94.2% with low disease activity) and median CDAI was 4.00 (38.5% in remission and 95.3% with low disease activity). Only three patients experienced pain, swelling, and stinging at the injection site or a locally extensive hematoma in the area of administration. CONCLUSIONS: Adalimumab biosimilar MSB11022 maintained the efficacy benefits provided by previous adalimumab treatments with a safety profile in line with that already described for other biosimilars.

Triple Therapy and Clinical Control in B+ COPD Patients: A Pragmatic, Prospective, Randomized Trial.

INTRODUCTION: Treatment with LABA/LAMA is recommended in GOLD B patients. We hypothesized that triple therapy (LABA/LAMA/ICS) will be superior to LABA/LAMA in achieving and maintaining clinical control (CC), a composite outcome that considers both impact and disease stability in a subgroup of GOLD B patients (here termed GOLD B+ patients) characterized by: (1) remaining symptomatic (CAT≥10) despite regular LABA/LAMA therapy; (2) having suffered one moderate exacerbation in the previous year; and (3) having blood eosinophil counts (BEC) ≥150cells/µL. METHODS: The ANTES B+ study is a prospective, multicenter, open label, randomized, pragmatic, controlled trial designed to test this hypothesis. It will randomize 1028 B+ patients to continue with their usual LABA/LAMA combination prescribed by their attending physician or to begin fluticasone furoate (FF) 92µg/umeclidinium (UMEC) 55µg/vilanterol (VI) 22µg in a single inhaler q.d. for 12 months. The primary efficacy outcome will be the level of CC achieved. Secondary outcomes include the clinical important deterioration index (CID), annual rate of exacerbations, and FEV1. Exploratory objectives include the interaction of BEC and smoking status, all-cause mortality and proportion of patients on LABA/LAMA arm that switch therapy arms. Safety analysis include adverse events and incidence of pneumonia. RESULTS: The first patient was recruited on February 29, 2024; results are expected in the first quarter of 2026. CONCLUSIONS: The ANTES B+ study is the first to: (1) explore the efficacy and safety of triple therapy in a population of B+ COPD patients and (2) use a composite index (CC) as the primary result of a COPD trial.

Treatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome.

Lhermitte-Duclos disease (LDD) is a rare entity, which may or may not be associated with Cowden syndrome (CS). The authors present a 26-year-old male with a history of emergency treatment due to acute obstructive hydrocephalus and apparent Chiari malformation. In posterior evaluation, mild cerebellar symptoms, mucocutaneous lesions, and a left hemispheric cerebellar lesion were evident. Initially, with the clinical evidence and the radiological study report of a cerebellar tiger-striped lesion, LDD with associated CS was suspected, and a genetic protocol was performed. The protocol included an endoscopy and thyroid ultrasound, and with symptom progression, a new neurosurgical procedure was performed. To complete the approach, we used the clinical criteria for PTEN hamartoma tumor syndrome established in 2013, and CS was diagnosed in the patient. In patients with radiological and clinical suspicion of LDD and CS, it should be mandatory to investigate the presence of other types of tumors due to their association with PTEN hamartomatous tumor syndrome, and in the absence of genetic study, the clinical criteria previously established in the literature should be sufficient to establish the diagnosis.

The Progression and Early detection of Subclinical Atherosclerosis (PESA) study: rationale and design.

BACKGROUND: The presence of subclinical atherosclerosis is a likely predictor of cardiovascular events; however, factors associated with the early stages and progression of atherosclerosis are poorly defined. OBJECTIVE: The PESA study examines the presence of subclinical atherosclerosis by means of noninvasive imaging and prospectively analyzes the determinants associated with its development and progression in a middle-aged population. METHODS: The PESA study is an observational, longitudinal and prospective cohort study in a target population of 4000 healthy subjects (40-54 years old, 35% women) based in Madrid (Spain). Recruitment began in June 2010 and will be completed by the end of 2013. Baseline examination consists of (1) assessment for cardiovascular risk factors (including lifestyle and psychosocial factors); (2) screening for subclinical atherosclerosis using 2D/3D ultrasound in carotid, abdominal aorta and iliofemoral arteries, and coronary artery calcium score (CACS) by computed tomography; and (3) blood sampling for determination of traditional risk factors, advanced "omics" and biobanking. In addition, a subgroup of 1300 participants with evidence of atherosclerosis on 2D/3D ultrasound or CACS will undergo a combined (18)F-fluorodeoxyglucose-positron emission tomography/magnetic resonance imaging ((18)FDG PET/MRI) study of carotid and iliofemoral arteries. Follow-up at 3 and 6 years will include a repetition of baseline measurements, except for the (18)FDG PET/MRI study, which will be repeated at 6 years. CONCLUSIONS: The PESA study is expected to identify new imaging and biological factors associated with the presence and progression of atherosclerosis in asymptomatic people and will help to establish a more personalized management of medical care.