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Background: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of periodic acid-Schiff (PAS)-positive, hyaline-like material on the skin, mucosae and internal organs., Objectives: To present a case report of LP and a systematic review to synthesize the scientific literature on the management of this uncommon and frequently missed diagnosis., Methods: We present a case report of a 48-year-old man with LP who exhibited significant improvement after oral acitretin therapy. To address the lack of large case-control studies on LP treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the Joanna Briggs Collaboration critical appraisal tool., Results: We included 25 studies that met eligibility criteria. Data from 44 patients with a histopathologically confirmed diagnosis were analysed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions., Conclusions: Low-dose oral acitretin could have potential in managing LP, exhibiting fewer side-effects compared with other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines., Competing Interests: Conflicts of interest The authors declare no conflicts of interest., (© The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Background: Tralokinumab was recently approved for the treatment of moderate-to-severe atopic dermatitis (AD) and is the first selective interleukin (IL)-13 inhibitor that specifically neutralizes IL-13 with high affinity., Objectives: To determine the real-life short-term effectiveness and safety of tralokinumab treatment in patients with moderate-to-severe AD., Methods: A multicentre retrospective study was conducted including adult patients with moderate-to-severe AD who started tralokinumab treatment from 1 April to 30 June 2022 in 16 Spanish hospitals. Demographic and disease characteristics, severity and quality of life scales were collected at the baseline visit and at weeks 4 and 16., Results: Eighty-five patients were included. Twenty-seven patients (32%) were non-naive to advanced therapy (biological or Janus kinase inhibitors inhibitors). All included patients had severe disease with baseline Eczema Area and Severity Index (EASI) scores of 25.4 (SD 8.1), Dermatology Life Quality Index (DLQI) 15.8 (5.4) and peak pruritus numerical rating scale (PP-NRS) 8.1 (1.8) and 65% had an Investigator's Global Assessment (IGA) of 4. At week 16, there was improvement on all scales. The mean EASI decreased to 7.5 (SD 6.9, 70% improvement), SCORing Atopic Dermatitis improved 64% and PP-NRS, 57%. Also, 82%, 58% and 21% of the patients achieved EASI 50, 75 and 90, respectively. The percentage of EASI 75 responders was significantly higher among the naive vs. non-naive groups (67% vs. 41%). The safety profile was acceptable., Conclusions: Patients, with a long history of disease and prior multidrug failure, showed a good response to tralokinumab, confirming clinical trial results., Competing Interests: Conflicts of interest: J.J.P.-R. has received honoraria for research from Novartis, AbbVie and Sanofi and for lecturing and other financial benefit from AbbVie, Almirall, Galderma, Janssen, Gebro-Pharma, Leo Pharma, Novartis, Lilly, Novartis, Pfizer, Sanofi and UCB. P.H. has been an investigator, speaker, and/or consultant for: AbbVie, Almirall, Amgen, Bristol Myers Squibb, Janssen, Lilly, Galderma, LEO Pharma, Novartis, Pfizer, Regeneron, Sanofi Genzyme and UCB Pharma. R.R.-V. has received honoraria for research from AbbVie, and lecturing and other financial benefits from Sanofi, AbbVie, Leo, MSD, Pfizer, Lilly, UCB, Janssen and Almirall. M.E.-G. has been an investigator and/or speaker for AbbVie, Lilly, Galderma, Leo Pharma, Pfizer, UCB Pharma and Sanofi Genzyme. M.G.-G. has received honoraria for research from Sanofi and AbbVie, and lecturing and other financial benefits from Sanofi, AbbVie, Leo Pharma, MSD, Pfizer, Celgene, Janssen, UCB Pharma, Lilly and Almirall. I.F.N. has been an investigator, speaker, and/or advisor for: AbbVie, Amgen, Lilly, Galderma, Pierre Fabre, Leo Pharma, Novartis, Regeneron and Sanofi Genzyme. J.M. has received speaker and consultancy fees from AbbVie, Leo Pharma, Novartis, Sanofi, UCB, Janssen, AMGEN and Lilly, and has participated as principal investigator in clinical trials sponsored by AbbVie, AMGEN and Novartis. P.d.l.C. has received consulting fees; payment or honoraria for lectures, presentations, speaker bureaus, manuscript writing or educational events; support for attending meetings and/or travel; participation on a Data safety monitoring board or advisory board from AbbVie, Pfizer, UCB, Leo Pharma, Almirall S.A., Lilly, Sanofi, MSD, BMS, Novartis and Janssen. E.S.-B. has been an investigator, speaker, and/or advisor for: AbbVie, Amgen, Sanofi and Lilly. M.M.-C. has participated as an investigator in clinical trials sponsored by Sanofi, AbbVie, Lilly, Leo Pharma, Pfizer, Almirall, Galderma and Novartis and has received speaker and consultant fees from, Leo Pharma, AbbVie and Galderma. G.M.-N. has been a medical advisor for AbbVie, Leo Pharma, Lilly, Sanofi and Novartis and undertaken educational activities for Almirall, Avène, AbbVie, Laboratorio Reig Jofre, Leo Pharma, Lilly, Meda, Novartis, Sanofi and Uriage. V.E.-S. has been an investigator, speaker, and/or advisor for AbbVie, Lilly, Leo Pharma, Novartis and Sanofi Genzyme. B.P. has received honoraria as speaker and/or advisor as well as funding to attend conferences for Sanofi, AbbVie, Boheringer Ingelheim, Lilly, Galderma, Leo Pharma, Pierre Fabre, Meda Pharma and FAES Pharma. J.O.d.F. has received speaker and consultancy fees from AbbVie, Leo Pharma, Novartis, Sanofi, Pfizer and Lilly, and has participated as principal investigator in clinical trials sponsored by AbbVie, Sanofi, Pfizer, Leo Pharma, Lilly and Novartis. J.C.A.-H. with funding for research from Novartis, AbbVie and Sanofi, and lecturing and other financial benefits from AbbVie, Almirall, Galderma, Janssen, Gebro-Pharma, Leo Pharma, Novartis, Lilly, Novartis, Pfizer, Sanofi and UCB. A.S. declares they have no conflicts of interest., (© The Author(s) 2023. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: intrinsic capacity (IC) is a construct encompassing people's physical and mental abilities. There is an implicit link amongst IC domains: cognition, locomotion, nutrition, sensory and psychological. However, little is known about the integration of the domains., Objectives: to investigate patterns in the presentation and evolution of IC domain impairments in low-and-middle-income countries and if such patterns were associated with adverse outcomes., Methods: secondary analyses of the first two waves of the 10/66 study (population-based surveys conducted in eight urban and four rural catchment areas in Cuba, Dominican Republic, Puerto Rico, Venezuela, Peru, Mexico and China). We applied latent transition analysis on IC to find latent statuses (latent clusters) of IC domain impairments. We evaluated the longitudinal association of the latent statuses with the risk of frailty, disability and mortality, and tested concurrent and predictive validity., Results: amongst 14,923 participants included, the four latent statuses were: high IC (43%), low deterioration with impaired locomotion (17%), high deterioration without cognitive impairment (22%), and high deterioration with cognitive impairment (18%). A total of 61% of the participants worsened over time, 35% were stable, and 3% improved to a healthier status.Participants with deteriorated IC had a significantly higher risk of frailty, disability and dementia than people with high IC. There was strong concurrent and predictive validity. (Mortality Hazard Ratio = 4.60, 95%CI 4.16; 5.09; Harrel's C = 0.73 (95%CI 0.72;0.74))., Conclusions: half of the study population had high IC at baseline, and most participants followed a worsening trend. Four qualitatively different IC statuses or statuses were characterised by low and high levels of deterioration associated with their risk of disability and frailty. Locomotion and cognition impairments showed other trends than psychological and nutrition domains across the latent statuses., (© The Author(s) 2023. Published by Oxford University Press on behalf of the British Geriatrics Society.)

Background: Systemic sclerosis (SSc) is an autoimmune chronic rheumatic disease with a high mortality rate, which continues to be a challenge for clinicians today., Aim: To assess changes in mortality trends in the Spanish SSc population between 1980 and 2019, taking into account the independent effects of sex, age, time period and birth cohort., Methods: SSc death records and mid-year population data were collected from the National Statistics Institute. Age-standardized mortality rates were calculated for the overall population and for each sex (male, female) and age group (5-year groups). Significant changes in mortality trends were identified by joinpoint regressions. An age-period-cohort (APC) analysis and potential years of life lost (PYLL) analysis were performed to identify the burden of SSc., Results: Age-standardized mortality rates due to SSc increased from 1.87 (95% CI 1.00-3.02) per 1 000 000 inhabitants between 1980 and 1984, to 2.47 (95% CI 1.74-3.02) per 1 000 000 inhabitants between 2015 and 2019. The relative risk of mortality fell in all groups in cohorts born after 1990. The PYLL rates showed a gradual rise for both sexes., Conclusion: There was an increase in overall SSc mortality in Spain during the 39 years evaluated, although there was a progressive drop for men., (© 2022 British Association of Dermatologists.)

Objective: Teleneuropsychology (teleNP) could potentially expand access to services for patients who are confined, have limited personal access to healthcare, or live in remote areas. The emergence of the COVID-19 pandemic has significantly increased the use of teleNP for cognitive assessments. The main objective of these recommendations is to identify which procedures can be potentially best adapted to the practice of teleNP in Latin America, and thereby facilitate professional decision-making in the region., Method: Steps taken to develop these recommendations included (1) formation of an international working group with representatives from 12 Latin American countries; (2) assessment of rationale, scope, and objectives; (3) formulation of clinical questions; (4) evidence search and selection; (5) evaluation of existing evidence and summary; and (6) formulation of recommendations. Levels of evidence were graded following the Oxford Centre for Evidence-Based Medicine system. Databases examined included PubMed, WHO-IRIS, WHO and PAHO-IRIS, Índice Bibliográfico Español en Ciencias de la Salud (IBCS), and LILACS., Results: Working group members reviewed 18,400 titles and 422 abstracts and identified 19 articles meeting the criteria for level of evidence, categorization, and elaboration of recommendations. The vast majority of the literature included teleNP tests in the English language. The working group proposed a series of recommendations that can be potentially best adapted to the practice of teleNP in Latin America., Conclusions: There is currently sufficient evidence to support the use of videoconferencing technology for remote neuropsychological assessments. These recommendations will likely contribute to the advancement of teleNP research and practice in the region., (© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: Targeting dorsal raphe 5-HT1A receptors, which are coupled to G-protein inwardly rectifying potassium (GIRK) channels, has revealed their contribution not only to behavioral and functional aspects of depression but also to the clinical response to its treatment. Although GIRK channels containing GIRK2 subunits play an important role controlling excitability of several brain areas, their impact on the dorsal raphe activity is still unknown. Thus, the goal of the present study was to investigate the involvement of GIRK2 subunit-containing GIRK channels in depression-related behaviors and physiology of serotonergic neurotransmission., Methods: Behavioral, functional, including in vivo extracellular recordings of dorsal raphe neurons, and neurogenesis studies were carried out in wild-type and GIRK2 mutant mice., Results: Deletion of the GIRK2 subunit promoted a depression-resistant phenotype and determined the behavioral response to the antidepressant citalopram without altering hippocampal neurogenesis. In dorsal raphe neurons of GIRK2 knockout mice, and also using GIRK channel blocker tertiapin-Q, the basal firing rate was higher than that obtained in wild-type animals, although no differences were observed in other firing parameters. 5-HT1A receptors were desensitized in GIRK2 knockout mice, as demonstrated by a lower sensitivity of dorsal raphe neurons to the inhibitory effect of the 5-HT1A receptor agonist, 8-OH-DPAT, and the antidepressant citalopram., Conclusions: Our results indicate that GIRK channels formed by GIRK2 subunits determine depression-related behaviors as well as basal and 5-HT1A receptor-mediated dorsal raphe neuronal activity, becoming alternative therapeutic targets for psychiatric diseases underlying dysfunctional serotonin transmission., (© The Author 2015. Published by Oxford University Press on behalf of CINP.)

A method is presented for the extraction, preconcentration, and determination of two commonly used booster biocides, Irgarol 1051 and diuron, in samples of muscle and liver tissues from Mugil cephalus by microwave-assisted extraction (MAE) followed by SPE for the preconcentration and cleanup step, coupled with LC/MS/MS. The optimum conditions for MAE were established as power 200 W and irradiation time 4 min. Using these conditions, the LOD was 0.13 ng/g for diuron and 0.10 ng/g for Irgarol 1051. The recoveries calculated at three concentration levels (0.5, 5, and 50 ng/g) were greater than 74%. Repeatability was less than 7.5% and reproducibility less than 12.7%. The optimized method was used to monitor these compounds in M. cephalus from different harbors of Gran Canaria Island. The samples were collected bimonthly and processed following the optimized method. High levels of Irgarol 1051 (6.9 +/- 1.03 ng/g) were found in the liver, while diuron was undetected. However, diuron was found in the muscle (1.41 +/- 0.45 ng/g). The proposed sentinel organism could be used in tropical and subtropical regions to continuously biomonitor for booster biocides over long periods of time. This technique could be a useful tool for improving the management of ocean and coastal waters.

During the last two decades, a large number of publications have clearly shown that anthropogenic compounds that disrupt the endocrine system of wildlife species are a major cause for concern, and this concern has led to a demand for new screening methods. In this work, we have optimized and applied a new method to identify endocrine-disrupting chemicals (EDCs), such as nonylphenol, octylphenol, and their corresponding ethoxylates, 17alpha-ethynylestradiol, bisphenol-A, 17beta-estradiol, and estriol, in sewage samples. For the extraction and preconcentration of all analytes from the dissolved and particulate phases, we used SPE and ultrasonic assisted extraction, respectively. Identification and quantification were achieved by HPLC with fluorescence detection. Satisfactory LODs (between 0.5 and 7.6 ng/L in the dissolved phase and 12.3 and 21.4 ng/g in the particulate phase) and analyte recoveries (between 67 and 102%) were achieved for the target compounds. The optimized method was applied to the determination of EDCs in liquid sewage samples collected from July 2009 to July 2010 from a wastewater treatment plant in Las Palmas de G.C. (Spain). Concentrations of EDCs ranged from <10 to nearly 1300 ng/L in the dissolved phase, and from 0.1 to 7.7 microg/g in the suspended particulate matter.

Background: Genotypic tools may allow easier and less expensive estimation of HIV tropism before prescription of CCR5 antagonists compared with the Trofile assay (Monogram Biosciences, South San Francisco, CA, USA)., Methods: Paired genotypic and Trofile results were compared in plasma samples derived from the maraviroc expanded access programme (EAP) in Europe. A new genotypic approach was built to improve the sensitivity to detect X4 variants based on an optimization of the webPSSM algorithm. Then, the new tool was validated in specimens from patients included in the ALLEGRO trial, a multicentre study conducted in Spain to assess the prevalence of R5 variants in treatment-experienced HIV patients., Results: A total of 266 specimens from the maraviroc EAP were tested. Overall geno/pheno concordance was above 72%. A high specificity was generally seen for the detection of X4 variants using genotypic tools (ranging from 58% to 95%), while sensitivity was low (ranging from 31% to 76%). The PSSM score was then optimized to enhance the sensitivity to detect X4 variants changing the original threshold for R5 categorization. The new PSSM algorithms, PSSM(X4R5-8) and PSSM(SINSI-6.4), considered as X4 all V3 scoring values above -8 or -6.4, respectively, increasing the sensitivity to detect X4 variants up to 80%. The new algorithms were then validated in 148 specimens derived from patients included in the ALLEGRO trial. The sensitivity/specificity to detect X4 variants was 93%/69% for PSSM(X4R5-8) and 93%/70% for PSSM(SINSI-6.4)., Conclusions: PSSM(X4R5-8) and PSSM(SINSI-6.4) may confidently assist therapeutic decisions for using CCR5 antagonists in HIV patients, providing an easier and rapid estimation of tropism in clinical samples.

Sudden death during sports activities, although unfrequent, is a tragic event with great impact on both the general and medical communities. The two commonest conditions leading to sudden cardiac death in young athletes are hyperthrophic cardiomyopathy (HCM), the main cause in the USA, and arrythmogenic right ventricular cardiomyopathy, which is the leading cause in Europe. We report the case of a 17-year-old football player with a pathological electrocardiography (ECG) in the pre-participation screening programme, highly suggestive of HCM, in which ECG study showed a septum thickness of 28 mm. Genetic analysis revealed R 495 W mutation in the 18 exon of the MyBPC3 (myosin-binding protein C) and sports activities were contraindicated. Two years later, septum thickness was 19.5 mm. Usefulness of 12-lead ECG, differential diagnosis between athlete's heart and HCM, and the stratification in patients with HCM are discussed.

Eleven phenolic compounds considered by the Environmental Protection Agency to be priority pollutants are extracted and determined in different water samples. The method involves the extraction and clean-up step of target compounds by solid-phase microextraction and micellar desorption (SPME-MD) and a second step of determination by liquid chromatography with diode array detection. Different fibers and surfactants are evaluated for the analysis of these target analytes in water samples. In the optimum conditions for the SPME process, recoveries for the target compounds are between 80% and 109%; relative standard deviations are lower than 10%, and detection limits are in the range 0.3-3.5 ng/mL. The main advantages of this method are the combination of time and efficiency, safety, and an environmentally friendly process for sample extraction prior to instrumental determination. This demonstrates that SPME-MD can be used as an alternative to traditional methods for the extraction and determination of priority phenolic compounds in natural waters from different origins.

A simple and fast analytical method was developed for the determination of benzimidazole fungicides (benomyl, carbendazim, thiabendazole, and fuberidazole) in soil samples. The analytes were extracted from the soil samples by means of conventional microwave-assisted extraction, using the non-ionic surfactants polyoxyethylene 10 lauryl ether (POLE) and oligoethylene glycol monooalkyl ether (Genapol X-080) as extractants. Determinations were made by using liquid chromatography with direct fluorescence detection. The use of an analytical column Symmetry C-18 offered short retention times of analytes without the need of any pH regulators with mobile phase methanol-water (50 + 50, v/v). The best results were obtained using 5% (v/v) POLE as extractant with recoveries of the fungicides in spiked soil samples between 71 and 105%. The results were compared with those obtained when Soxhlet extraction was applied to the same soil samples.

Background: Highly active antiretroviral therapy for HIV-infected patients is associated with metabolic side effects, which could cause an increased cardiovascular risk in these patients. Non-invasive study of endothelial function by brachial artery ultrasound can detect subclinical atherosclerosis. Several studies have assessed endothelial function in HIV-infected patients with associated cardiovascular risk factors., Objectives: The aim of this study is to determine endothelial function in HIV-infected patients under antiretroviral therapy with low or mild coronary risk and lipid levels within the normal range., Methods: Transversal study including 28 HIV-infected adults (15 receiving antiretroviral therapy and 13 naive) with low or mild cardiovascular risk and 12 healthy controls. Subjects with diabetes mellitus, hypertension, cardiovascular disease, obesity, high cholesterol or high triglyceride levels were excluded. Endothelial function was determined with flow-mediated dilation (FMD) of the brachial artery by ultrasound study., Results: Treated HIV-infected patients had significantly lower FMD (5.93 +/- 3.56) than healthy controls (10.64 +/- 3.08, P = 0.008). Naive patients had an intermediate FMD, but this was not statistically significant., Conclusions: HIV-infected patients receiving antiretroviral therapy who have low or mild cardiovascular risk and lipid levels within the normal range have endothelial dysfunction compared with healthy controls.

Microwave-assisted micellar extraction methodology was applied to extract a mixture of 8 organophosphorus pesticides from the cuticle of tomato samples prior to analysis by liquid chromatography with ultraviolet detection. This technique provided very good results and was simple, fast, and environmentally friendly. The pesticides under study were extracted using the nonionic surfactants polyoxyethylene 10 lauryl ether (POLE) and oligoethylene glycol monoalkyl ether (Genapol X-080). The optimal extraction variables to be applied were determined for each surfactant and then compared. POLE proved to be the most suitable for the extraction, with recoveries over 70% in the majority and relative standard deviation values under 4.8%. After validation using a tomato sample enriched with a certified mixture, the proposed method was applied to the analysis of organophosphorus pesticides in lettuce and pepper samples.

A new and fast method for the determination of priority phenols in marine sediment samples by high-performance liquid chromatography using microwave-assisted micellar extraction is optimized. This study is carried out using the nonionic surfactants polyoxyethylene 9 lauryl ether (polidocanol) and genapol X-080 as extractants. Parameters studied include surfactant concentration, solution pH, extraction time, and power. Once the method is optimized, it is applied to different spiked marine sediments from of the Canary Islands coastlines (Spain). The results obtained indicate that a power irradiation of 500 W for 2 min achieved the best extraction efficiency (approximately 100% recovery) and less than 10% relative standard deviation. Detection limits are obtained in the 2-20 microg/g range for the phenols studied. Finally, the proposed method provides a simple, fast, and organic solvent-free procedure to analyze phenols from marine sediment samples.

Methodology based on the cloud-point phenomenon was applied to the comparative study of 3 different polyoxyethylene nonionic surfactants in order to extract and preconcentrate a group of phenolic derivatives in water samples; these phenolic compounds, which were determined by liquid chromatography with UV detection, included 11 pollutants given priority by the U.S. Environmental Protection Agency. The optimum conditions for the extraction and preconcentration of phenolic compounds were established for each surfactant. The surfactant that gave the best extraction and preconcentration of the analytes under study was polyoxyethylene 6 lauryl ether (C12E6) with detection limits of <3.5 microg/L for all the phenolic compounds tested. The method was applied to seawater and depurated wastewater samples.