Pericardial Cyst: An Uncommon Cause of Fever.

Pericardial cysts are a rare and benign entity that comprise 7% of the mediastinal masses. They are asymptomatic in over half of the cases, being usually detected as an incidental mass lesion on chest X-ray. When symptomatic, they usually present with dyspnea, chest pain, or persistent cough.

Diabetic Striatopathy: A Case Report of Two Distinct Presentations in Elderly Patients.

Movement disorders associated with diabetes mellitus (DM) are rare. The diagnosis of diabetic striatopathy (DS) is based on the presence of a triad characterized by hyperglycemia, hemiballismus/chorea, and hypersignal of the basal ganglia on T1-weighted MRI. In most cases, treatment involves glycemic control.

Precision Oncology and Systemic Targeted Therapy in Pseudomyxoma Peritonei.

Purpose: Pseudomyxoma peritonei (PMP) is a rare and poorly understood malignant condition characterized by the accumulation of intra-abdominal mucin produced from peritoneal metastases. Currently, cytoreductive surgery remains the mainstay of treatment but disease recurrence and death after relapse frequently occur in patients with PMP. New therapeutic strategies are therefore urgently needed for these patients.

Appropriateness of radiological diagnostic tests in otolaryngology.

Objective: To evaluate the appropriateness of imaging tests associated with radiation in the field of otolaryngology according to the available recommendations, and to estimate the effective radiation dose associated.

Method: Cross-sectional epidemiological study of the totality of the imaging test requests carried out by two Spanish hospitals (n = 1931). We collected the following information: patient demographic data, type of imaging test, imaging tests referred in the previous 12 months, referrer department and diagnostic suspicion.

High-extinction ratio polarization splitter based on an asymmetric directional coupler and on-chip polarizers on a silicon photonics platform.

A high performance compact silicon photonics polarization splitter is proposed and demonstrated. The splitter is based on an asymmetric directional coupler. High extinction ratios at the through and drop ports of the polarization splitter are achieved by using an on-chip TE-pass polarizer and a TM-pass polarizer, respectively.

Author Correction: Optical fibre Fabry-Pérot interferometer based on inline microcavities for salinity and temperature sensing.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Evaluation of an Age-Friendly City and Its Effect on Life Satisfaction: A Two-Stage Study.

Due to the ageing of the world's population, age-friendly cities are emerging to promote active ageing by optimising opportunities for health, participation and safety, in order to improve the quality of life of older people. Despite initiatives in different countries, there is a lack of empirical research exploring their impact on older people. The objective of this study is to evaluate an age-friendly city by analysing its relationship with life satisfaction, taking into account the age cohort variables of the elderly and whether they live alone or with someone else.

Silicon photonics waveguide array sensor for selective detection of VOCs at room temperature.

We report on the fabrication and characterization of a volatile organic compound sensor architecture addressing common drawbacks of photonic integrated sensors such as reusability and specificity. The proposed sensor, built on a silicon-on-insulator platform and based on arrayed waveguide interference, has a chemically selective polydimethylsiloxane polymer cladding, which encapsulates the waveguides and provides an expandable and permeable low refractive index material. This cladding material acts as the chemical transducer element, changing its optical properties when in contact with specific volatile organic compounds, whose presence in the context of environmental and public health protection is important to monitor.

Tailoring the visible light photoactivity of un-doped defective TiO anatase nanoparticles through a simple two-step solvothermal process.

Anatase TiO has become a material of great interest for photocatalytic production of hydrogen, environmental purification and solar energy conversion. Among the key parameters boosting the photocatalytic efficiency of the anatase nanoparticles, an increased light absorption to expand its optical response to the visible region, together with an improved charge separation of the photo-generated electrons and holes, can be enumerated. In this work, yellow-coloured, single-phase anatase nanoparticles have been obtained using a simple two-step solvothermal routine which requires no external addition of dopants, nor the use of a harassing/aggressive synthesis atmosphere.

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Background: The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We have investigated the genetic factors that could contribute to the ASD phenotype in individuals with WBS.

Optical fibre Fabry-Pérot interferometer based on inline microcavities for salinity and temperature sensing.

This work explores the development of highly sensitive salinity sensors. The demonstrated sensors are based on optical fibres and consist on Fabry-Pérot optical cavities formed by optimized processes that include chemical etching and fusion splicing, on which microfluidic channels are milled by focused ion beam. Two configurations are presented and their performance compared, including a design that makes use of Vernier-effect for the simultaneous measurement of salinity and temperature with high sensitivity.

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Background: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic interventions are in development for some genetic forms, emphasizing the importance of determining genetic contributions.

Procalcitonin and C-reactive protein as early markers of anastomotic leak after laparoscopic colorectal surgery within an enhanced recovery after surgery (ERAS) program.

Background: C-reactive protein (CRP) and procalcitonin (PCT) have been described as good predictors of anastomotic leak after colorectal surgery, obtaining the highest diagnostic accuracy on the 5th postoperative day. However, if an enhanced recovery after surgery (ERAS) program is performed, early predictors are needed in order to ensure a safe and early discharge. The aim of this study was to investigate the efficacy of CRP, PCT, and white blood cell (WBC) count determined on first postoperative days, in predicting septic complications, especially anastomotic leak, after laparoscopic colorectal surgery performed within an ERAS program.

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

Obesity is a multifactorial disorder with high heritability (50-75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy number variants (CNVs), have been described, the genetic causes underlying the disease still remain largely unknown. We searched for rare CNVs (>100kb in size, altering genes and present in <1/2000 population controls) in 157 Spanish children with non-syndromic early-onset obesity (EOO: body mass index >3 standard deviations above the mean at <3 years of age) using SNP array molecular karyotypes.

Innovative Approaches Using Lichen Enriched Media to Improve Isolation and Culturability of Lichen Associated Bacteria.

Lichens, self-supporting mutualistic associations between a fungal partner and one or more photosynthetic partners, also harbor non-photosynthetic bacteria. The diversity and contribution of these bacteria to the functioning of lichen symbiosis have recently begun to be studied, often by culture-independent techniques due to difficulties in their isolation and culture. However, culturing as yet unculturable lichenic bacteria is critical to unravel their potential functional roles in lichen symbiogenesis, to explore and exploit their biotechnological potential and for the description of new taxa.

Fabrication of a phase photon sieve on an optical fiber tip by focused ion beam nanomachining for improved fiber to silicon photonics waveguide light coupling.

Unlabelled: We report the fabrication of a phase photon sieve (PS) on the tip of a standard single mode fiber by focused ion beam (FIB) milling. The fiber tip was dip-coated with a conductive polymer (

Pedot: PSS) as an alternative, more advantageous method to the metallization prior to FIB milling. The near field scans of the intensity profile along the optical axis under fiber illumination of a laser at λ = 1.

C-Reactive Protein and Procalcitonin as Early Markers of Septic Complications after Laparoscopic Sleeve Gastrectomy in Morbidly Obese Patients Within an Enhanced Recovery After Surgery Program.

Background: The performance of most bariatric procedures within an Enhanced Recovery After Surgery (ERAS) programs has resulted in considerable advantages, including a reduction in the length of hospital stay to 2 to 3 days. However, some postoperative complications can appear after the patient has been discharged. The aim of this study was to investigate the efficacy of various acute-phase parameters determined 24 and 48 hours after laparoscopic sleeve gastrectomy (LSG) as bariatric procedure, for predicting septic complications, such a surgical site infection (SSI), in the postoperative course.

Metabolic abnormalities in Williams-Beuren syndrome.

Background: Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.

DNA methylation abnormalities in congenital heart disease.

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected.

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We found anomalies in U11/U12 di-snRNP formation and in splicing of multiple U12-type introns in patient cells.

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of contiguous genes at 7q11.

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.

Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Given that several of the genes deleted in WBS are also involved in eye development and the differentiation of retinal layers, we examined the retinal phenotype in WBS patients and its functional relation to global motion perception. We discovered a low-level visual phenotype characterized by decreased retinal thickness, abnormal optic disk concavity, and impaired visual responses in WBS patients compared with age-matched controls by using electrophysiology, confocal and coherence in vivo imaging with cellular resolution, and psychophysics.

Human KIR2DL5 is an inhibitory receptor expressed on the surface of NK and T lymphocyte subsets.

Human NK cells, by means of a repertoire of clonally distributed killer cell Ig-like receptors (KIR), survey the expression of individual self HLA class I molecules, which is often altered in infections and tumors. KIR2DL5 (CD158f) is the last identified KIR gene and, with KIR2DL4, constitutes a structurally divergent lineage conserved in different primate species. Research on KIR2DL5 has thus far been limited to its genetic aspects due to a lack of reagents to detect its product.