Injerto de hueso calvarial envuelto en colgajo pediculado de fascia temporo-parietal para reconstrucción de reborde cigomático-maxilar e infraorbitario: reporte de caso / Calvarial bone graft wrapped in temporo-parietal fascia pedicled flap for zygomatico-maxillary and infraorbital rim reconstruction: case report

La reconstrucción posterior a una cirugía oncológica resectiva maxilar es todo un desafío. Debido a esto, existen diversas técnicas quirúrgicas cuyo objetivo apunta a mantener no solo la funcionalidad, sino también la estética facial, especialmente en el área del reborde infraorbitario. El injerto de hueso calvarial es una opción segura y versátil para realizar una reconstrucción primaria en el reborde infraorbitario. Esta técnica está indicada en aquellos pacientes en los cuales la resección cutánea y exenteración orbitaria no son necesarias. Por este motivo, a continuación, analizaremos este tipo de injerto a propósito de un caso clínico en el que se usó asociado a un colgajo pediculado de fascia temporoparietal.

Reconstruction after maxillary resective oncological surgery is a challenge. Because of this, there are many surgical techniques whose objective is to maintain not only function but also facial aesthetics, especially in the infraorbital rim area. The calvarial bone graft is a safe and versatile option to perform a primary infraorbital rim reconstruction. This technique is indicated in those patients in whom skin resection and orbital exenteration are not necessary. For this reason, we will now analyze this type of graft in relation to a case in which it was used associated with a temporo-parietal fascia flap.

Características clínicas y factores de riesgo de mortalidad al ingreso en pacientes con insuficiencia cardíaca hospitalizados por COVID-19 en España / Clinical characteristics and risk factors for mortality upon admission in patients with heart failure hospitalized due to COVID-19 in Spain

Introducción: Existen pocos estudios sobre pacientes con insuficiencia cardíaca (IC) ingresados por COVID-19. Nuestro objetivo fue describir las características clínicas de los pacientes con IC ingresados por COVID-19 e identificar los factores de riesgo al ingreso de mortalidad intrahospitalaria. Material y métodos: Estudio retrospectivo y multicéntrico de pacientes con IC ingresados por COVID-19 en 150 hospitales españoles (Registro SEMI-COVID-19). Se realizó un análisis de regresión logística para identificar los factores de riesgo al ingreso asociados a la mortalidad. Resultados: Se analizaron 1.718 pacientes (56,5% varones; edad mediana 81,4 años). La tasa de mortalidad global fue del 47,6% (n=819). Los factores de riesgo independientes al ingreso para mortalidad fueron: la edad (odds ratio ajustado [ORA]: 1,03; intervalo de confianza 95% [IC 95%]: 1,02-1,05; p<0,001), la dependencia severa (ORA: 1,62; IC 95%: 1,19-2,20; p=0,002), la taquicardia (ORA: 1,01; IC 95%: 1,00-1,01; p=0,004), la proteína C reactiva (ORA: 1,004; IC 95%:1,002-1,004; p<0,001), la LDH (ORA: 1,001; IC 95%: 1,001-1,002; p<0,001) y la creatinina sérica (ORA: 1,35; IC 95%: 1,18-1,54; p<0,001). Conclusiones: Los pacientes con IC hospitalizados por COVID-19 tienen una alta mortalidad intrahospitalaria. Existen factores clínico-analíticos simples que pueden ayudar a identificar a los pacientes con peor pronóstico (AU)

Background: There are few studies on patients with heart failure (HF) hospitalized for COVID-19. Our aim is to describe the clinical characteristics of patients with HF hospitalized for COVID-19 and identify risk factors for in-hospital mortality upon admission. Methods: We conducted a retrospective, multicenter study in patients with HF hospitalized for COVID-19 in 150 Spanish hospitals (SEMI-COVID-19 Registry). A multivariate logistic regression analysis was performed to identify admission risk factors associated with in-hospital mortality. Results: A total of 1,718 patients were analyzed (56.5% men; median age 81.4 years). The overall case fatality rate was 47.6% (n=819). The independent risk factors at admission for in-hospital mortality were: age (adjusted odds ratio [AOR]: 1.03; 95% confidence interval [95%CI]: 1.02-1.05; p<.001); severe dependence (AOR: 1.62; 95%CI: 1.19-2.20; p=.002); tachycardia (AOR: 1.01; 95%CI: 1.00-1.01; p=.004); and high C-reactive protein (AOR: 1.004; 95%CI:1.002-1.004; p<.001), LDH (AOR: 1.001; 95%CI: 1.001-1.002; p<.001), and serum creatinine levels (AOR: 1.35; 95%CI: 1.18-1.54; p<.001). Conclusions: Patients with HF hospitalized for COVID-19 have a high in-hospital mortality rate. Some simple clinical and laboratory tests can help to identify patients with a worse prognosis (AU)

College reopening and community spread of COVID-19 in the United States.

OBJECTIVE: After months of lockdown due to the COVID-19 outbreak, the US postsecondary institutions implemented different instruction approaches to bring their students back for the Fall 2020 semester. Given public health concerns with reopening campuses, the study evaluated the impact of Fall 2020 college reopenings on COVID-19 transmission within the 632 US university counties. STUDY DESIGN: This was a retrospective and observational study. METHODS: Bayesian Structural Time Series (BSTS) models were conducted to investigate the county-level COVID-19 case increases during the first 21 days of Fall 2020. The case increase for each county was estimated by comparing the observed time series (actual daily cases after school reopening) to the BSTS counterfactual time series (predictive daily cases if not reopening during the same time frame). We then used multilevel models to examine the associations between opening approaches (in-person, online, and hybrid) and county-level COVID-19 case increases within 21 and 42 days after classes began. The multigroup comparison between mask and non-mask-required states for these associations were also performed, given that the statewide guidelines might moderate the effects of college opening approaches. RESULTS: More than 80% of our university county sample did not experience a significant case increase in Fall 2020. There were no significant relationships between opening approaches and community transmission in both mask-required and non-mask-required states. Only small metropolitan counties and counties with a non-community college or a higher percentage of student population showed significantly positive associations with the case number increase within the first 21-day period of Fall 2020. For the longer 42-day period, the counties with a higher percentage of the student population showed a significant case increase. CONCLUSION: The overall findings underscored the outcomes of US higher education reopening efforts when the vaccines were still under development in Fall 2020. For individual county results, we invite the college- and county-level decision-makers to interpret their results using our web application.

Impact of intraoperative colonoscopy on anastomotic leakage detection and prevention in colorectal anastomosis for rectal cancer.

INTRODUCTION AND AIM: The value of leakage testing during colorectal resections to identify anastomotic leaks or bleeding has not been established. Our aim was to compare the impact of intraoperative colonoscopy (IOC) versus insufflation with a syringe, as leakage testing in lower anterior resection (LAR) for rectal cancer, with respect to the incidence of postoperative leakage (PL). MATERIALS AND METHODS: A retrospective study utilizing a prospective database of 426 patients with rectal cancer that underwent elective LAR, within the time frame of January 2015 and December 2019, was conducted. The anastomotic leak test was chosen by the surgeon. The incidence of postoperative leakage was compared between patients that underwent IOC and those that had the syringe leak test, utilizing the logistic regression analysis. Propensity score matching was included. RESULTS: There were no significant differences in the clinical characteristics or morbidity and mortality rates between the two groups. Four patients were excluded, leaving a patient total of 422. Seventy patients with IOC were compared with 352 that had the syringe leak test. The incidence of postoperative leakage was 5.7% in the IOC group and 12.2% in the control group (p = 0.001). After propensity score matching (n = 221), balancing the characteristics between the groups, the incidence of postoperative leakage was 5.7% in the IOC group and 13.9% in the syringe leak test group (p = 0.001). CONCLUSION: IOC was shown to be a safe method for evaluating the integrity of colorectal anastomosis and was associated with a higher percentage of protective stoma use, appearing to reduce the risk for PL.

Clinical characteristics and risk factors for mortality upon admission in patients with heart failure hospitalized due to COVID-19 in Spain.

BACKGROUND: There are few studies on patients with heart failure (HF) hospitalized for COVID-19. Our aim is to describe the clinical characteristics of patients with HF hospitalized for COVID-19 and identify risk factors for in-hospital mortality upon admission. METHODS: We conducted a retrospective, multicenter study in patients with HF hospitalized for COVID-19 in 150 Spanish hospitals (SEMI-COVID-19 Registry). A multivariate logistic regression analysis was performed to identify admission factors associated with in-hospital mortality. RESULTS: A total of 1718 patients were analyzed (56.5% men; median age 81.4 years). The overall case fatality rate was 47.6% (n = 819). The independent risk factors at admission for in-hospital mortality were: age (adjusted odds ratio [AOR]: 1.03; 95% confidence interval [95%CI]: 1.02-1.05; p < 0.001); severe dependence (AOR: 1.62; 95%CI: 1.19-2.20; p = 0.002); tachycardia (AOR: 1.01; 95%CI: 1.00-1.01; p = 0.004); and high C-reactive protein (AOR: 1.004; 95%CI:1.002-1.004; p < 0.001), LDH (AOR: 1.001; 95%CI: 1.001-1.002; p < 0.001), and serum creatinine levels (AOR: 1.35; 95%CI: 1.18-1.54; p < 0.001). CONCLUSIONS: Patients with HF hospitalized for COVID-19 have a high in-hospital mortality rate. Some simple clinical and laboratory tests can help to identify patients with a worse prognosis.

[Clinical characteristics and risk factors for mortality upon admission in patients with heart failure hospitalized due to COVID-19 in Spain]. / Características clínicas y factores de riesgo de mortalidad al ingreso en pacientes con insuficiencia cardíaca hospitalizados por COVID-19 en España.

Background: There are few studies on patients with heart failure (HF) hospitalized for COVID-19. Our aim is to describe the clinical characteristics of patients with HF hospitalized for COVID-19 and identify risk factors for in-hospital mortality upon admission. Methods: We conducted a retrospective, multicenter study in patients with HF hospitalized for COVID-19 in 150 Spanish hospitals (SEMI-COVID-19 Registry). A multivariate logistic regression analysis was performed to identify admission risk factors associated with in-hospital mortality. Results: A total of 1,718 patients were analyzed (56.5% men; median age 81.4 years). The overall case fatality rate was 47.6% (n=819). The independent risk factors at admission for in-hospital mortality were: age (adjusted odds ratio [AOR]: 1.03; 95% confidence interval [95%CI]: 1.02-1.05; p< .001); severe dependence (AOR: 1.62; 95%CI: 1.19-2.20; p=.002); tachycardia (AOR: 1.01; 95%CI: 1.00-1.01; p=.004); and high C-reactive protein (AOR: 1.004; 95%CI:1.002-1.004; p< .001), LDH (AOR: 1.001; 95%CI: 1.001-1.002; p< .001), and serum creatinine levels (AOR: 1.35; 95%CI: 1.18-1.54; p< .001). Conclusions: Patients with HF hospitalized for COVID-19 have a high in-hospital mortality rate. Some simple clinical and laboratory tests can help to identify patients with a worse prognosis.

Can the provision of sexual healthcare for oncology patients be improved? A literature review of educational interventions for healthcare professionals.

PURPOSE: Sexual health is an important quality-of-life concern for cancer patients and survivors, but a difficult discussion topic for patients and healthcare professionals. The most important barriers causing healthcare professionals to avoid the topic are lack of education and lack of knowledge. How effective education about sexual health is for oncology healthcare professionals is not clear. The aim of this review is to examine the effectiveness of interventions in improving the provision of sexual healthcare for cancer patients. METHODS: A systematic literature review was conducted according to PRISMA guidelines using the following data sources: PubMed, PsychInfo, Embase and Emcare. Quantitative research was included which contained pre-intervention and post-intervention outcomes. The assessment of the studies was conducted independently by two reviewers. A third reviewer was involved if there was no consensus. RESULTS: Seven studies were included. In total, 572 oncology healthcare professionals participated, including physicians, nurses and allied healthcare professionals. Interventions consisted of 6 face-to-face sessions and one online program. Primary objectives of the studies were the assessment of improvement in knowledge about sexual health, improvement of practice, frequency of discussing sexual health and comfort level and the decline of perceived barriers to discussing sexual health. Studies showed that interventions resulted in improved realization of the objectives. CONCLUSIONS: Although improvement in the knowledge of healthcare professionals was achieved, it was not possible to give an overall recommendation for the development of interventions due to the limited number of studies and heterogeneity of the data. IMPLICATIONS FOR CANCER SURVIVORS: Sexual health is an important area of survivorship that is often neglected. Many oncology healthcare professionals lack training and knowledge to provide such care. More evidence-based practices are needed to improve sexual healthcare for cancer survivors.

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.

Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. Genetic analysis and subsequent cascade screening in relatives allow diagnosis of FH at early stage, especially relevant to diagnose children. So far, more than 2300 LDLr variants have been described but only a minority of them have been functionally analysed to evaluate their pathogenicity in FH. Thus, identifying pathogenic mutations in LDLr is a long-standing challenge in the field. In this study, we investigated in vitro the activity p.(Asp47Asn) and p.(Thr62Met) LDLr variants, both in the LR1 region. We used CHO-ldlA7 transfected cells with plasmids carrying p.(Asp47Asn) or p.(Thr62Met) LDLr variants to analyse LDLr expression by FACS and immunoblotting, LDL binding and uptake was determined by FACS and analysis of mutation effects was assessed in silico. The in vitro activity assessment of p.(Asp47Asn) and p.(Thr62Met) LDLr variants shows a fully functional LDL binding and uptake activities. Therefore indicating that the three of them are non-pathogenic LDLr variants. These findings also emphasize the importance of in vitro functional LDLr activity studies to optimize the genetic diagnosis of FH avoiding the report of non-pathogenic variants and possible misdiagnose in relatives if cascade screening is carried out.

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.

BACKGROUND AND AIMS: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic. Here we investigated the role of Cys46 located in the first repeat of the LDL receptor binding domain in recognition of apolipoproteins. METHODS: Activity of the p.(Cys46Gly) LDLR variant was assessed by immunoblotting and flow cytometry in CHO-ldlA7 expressing the receptor variant. Affinity of p.(Cys46Gly) for LDL and VLDL was determined by solid-phase immunoassays and in silico analysis was used to predict mutation effects. RESULTS AND CONCLUSION: Functional characterization of p.(Cys46Gly) LDLR variant showed impaired LDL and VLDL binding and uptake activity. Consistent with this, solid-phase immunoassays showed the p.(Cys46Gly) LDLR variant has decreased binding affinity for apolipoproteins. These results indicate the important role of Cys46 in LDL receptor activity and highlight the role of LR1 in LDLr activity modulation. This study reinforces the significance of in vitro functional characterization of LDL receptor activity in developing an accurate approach to FH genetic diagnosis. This is of particular importance because it enables clinicians to tailor personalized treatments for patients' mutation profile.

A new mass spectrometry-based method for the quantification of histones in plasma from septic shock patients.

The aim of this study was to develop a novel method to detect circulating histones H3 and H2B in plasma based on multiple reaction monitoring targeted mass spectrometry and a multiple reaction monitoring approach (MRM-MS) for its clinical application in critical bacteriaemic septic shock patients. Plasma samples from 17 septic shock patients with confirmed bacteraemia and 10 healthy controls were analysed by an MRM-MS method, which specifically detects presence of histones H3 and H2B. By an internal standard, it was possible to quantify the concentration of circulating histones in plasma, which were significantly higher in patients, and thus confirmed their potential as biomarkers for diagnosing septic shock. After comparing surviving patients and non-survivors, a correlation was found between higher levels of circulating histones and unfavourable outcome. Indeed, histone H3 proved a more efficient and sensitive biomarker for septic shock prognosis. In conclusion, these findings suggest the accuracy of the MRM-MS technique and stable isotope labelled peptides to detect and quantify circulating plasma histones H2B and H3. This method may be used for early septic shock diagnoses and for the prognosis of fatal outcomes.

Written information material and availability of sexual health care for men experiencing sexual dysfunction after prostate cancer treatment: An evaluation of Dutch urology and radiotherapy departments.

Objective was to investigate content of written information material and availability of sexual health care for men experiencing sexual dysfunction (SD) after prostate cancer treatment. A cross-sectional survey was conducted among Dutch urology and radiotherapy departments to evaluate information materials and availability of sexual health care. Out of 71 eligible departments, 34 urology and 15 radiotherapy departments participated in the survey (response rate 69.0%). Fifty-nine brochures corresponding to 31 urology and 11 radiotherapy departments were analysed. In 88.1% of collected information material, sexual health was mentioned. Regarding extensiveness, 20.4% of the brochures contained extensive information, 50.8% moderate amount of information and 28.8% contained little or no information. Urology departments provided pre-treatment nurse consultations more often than radiotherapy departments. Sexual counselling was more frequently provided by urology departments. Urology departments were more aware of adequate referral possibilities. Information material provided by Dutch urology and radiotherapy departments does not address treatment-related SD routinely. Sexual health care is not available everywhere for men experiencing SD. Applying a standard regarding content of sexual health in information material is recommended as well as improved awareness of referral possibilities and enhanced provision of pre-treatment nurse consultations for men experiencing SD after prostate cancer treatment.

Nutrientes clave en la alimentación complementaria: el hierro en fórmulas y cereales / Key nutrients in complementary feeding: iron in formulas and cereals

Las fórmulas de continuación y los cereales infantiles van enriquecidos según lo establecido por la legislación. Sin embargo, el enriquecimiento de alimentos infantiles no es siempre igual de efectivo. En el caso del hierro, no todas las sales autorizadas por ley presentan la misma biodisponibilidad; por tanto, podría producirse una baja absorción de hierro no detectada que dé lugar a situaciones de deficiencia. Una dieta deficitaria durante el inicio de la alimentación complementaria (4-7 meses) es la principal causa de deficiencia de hierro, y suele estar ocasionada también por otros factores, como la presencia en la dieta de compuestos que modifican la absorción de hierro (p. ej., fitatos, calcio, oxalatos, vitamina C o proteínas). La carencia de hierro es, en la actualidad, el problema nutricional con más prevalencia entre la población. En la mayoría de los países no industrializados amenaza a más del 60% de las mujeres y niños, mientras que en los países industrializados el 12-18 % de las mujeres y el 9,6% de los niños sufren anemia. Por tanto, la alimentación complementaria es un vehículo idóneo para realizar una intervención nutricional preventiva y evitar que se produzcan situaciones carenciales. La búsqueda de fuentes de hierro altamente absorbibles supone un reto clave para la industria de alimentos infantiles (AU)

The following formulas and infant cereals are fortified according to the provisions of the legislation. However, baby food fortification is not always as effective. In the case of iron, not all salts authorized by law have the same bioavailability, and therefore may cause a low iron absorption undetected leading to situations of deficiency. A deficient diet during startup of complementary feeding (4-7 months) is the main cause of iron deficiency, and is usually caused by other factors such as the presence of compounds modifying dietary iron absorption, as phytates, calcium, oxalates, vitamin C or protein. Iron deficiency is currently the most prevalent nutritional problem among the population. In most industrialized countries threatens more than 60% of women and children, while in industrialized countries between 12-18% of women and 9.6% of children suffer from anemia. Therefore, supplementary feeding is an ideal vehicle for preventive nutritional intervention and avoids situations of need. The search for sources of highly absorbable iron is a key challenge for the baby food industry (AU)

Autologous tumor lysate/Bacillus Calmette-Guérin immunotherapy as an adjuvant to conventional breast cancer therapy.

INTRODUCTION: Autologous tumor cell vaccines rely on the concept of preserving an individual's own tumorigenic makeup, expressing its unique set of tumor-associated antigens as well as antigenic elements from the surrounding stroma. These autologous tumor characteristics are usually presented with an immune adjuvant in the hopes of enhancing an immune response. METHODS: The autologous vaccine we used was composed of tumor cells combined with BCG and formalin. Animal safety and toxicity were evaluated using mice tumors for the immunotherapy. A small number of patients with advanced stage breast cancer were recruited for an uncontrolled study, using the vaccine solely or combined with chemotherapy/radiotherapy. RESULTS: The immunotherapy had shown to be safe in mice and humans. Upon a 5-year follow-up, the survival rate was 60 % for the combined treatment. CONCLUSIONS: The data suggest that the combined treatment could be a feasible and safe therapeutic strategy. However, further controlled studies should be conducted.

Fas palmitoylation by the palmitoyl acyltransferase DHHC7 regulates Fas stability.

The death receptor Fas undergoes a variety of post-translational modifications including S-palmitoylation. This protein acylation has been reported essential for an optimal cell death signaling by allowing both a proper Fas localization in cholesterol and sphingolipid-enriched membrane nanodomains, as well as Fas high-molecular weight complexes. In human, S-palmitoylation is controlled by 23 members of the DHHC family through their palmitoyl acyltransferase activity. In order to better understand the role of this post-translational modification in the regulation of the Fas-mediated apoptosis pathway, we performed a screen that allowed the identification of DHHC7 as a Fas-palmitoylating enzyme. Indeed, modifying DHHC7 expression by specific silencing or overexpression, respectively, reduces or enhances Fas palmitoylation and DHHC7 co-immunoprecipitates with Fas. At a functional level, DHHC7-mediated palmitoylation of Fas allows a proper Fas expression level by preventing its degradation through the lysosomes. Indeed, the decrease of Fas expression obtained upon loss of Fas palmitoylation can be restored by inhibiting the lysosomal degradation pathway. We describe the modification of Fas by palmitoylation as a novel mechanism for the regulation of Fas expression through its ability to circumvent its degradation by lysosomal proteolysis.

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.

BACKGROUND: The LDL receptor (LDLR) is a Class I transmembrane protein critical for the clearance of cholesterol-containing lipoprotein particles. The N-terminal domain of the LDLR harbours the ligand-binding domain consisting of seven cysteine-rich repeats of approximately 40 amino acids each. Mutations in the LDLR binding domain may result in loss of receptor activity leading to familial hypercholesterolemia (FH). In this study the activity of six mutations located in the cysteine-rich repeats of the LDLR has been investigated. METHODS: CHO-ldlA7 transfected cells with six different LDLR mutations have been used to analyse in vitro LDLR expression, lipoprotein binding and uptake. Immunoblotting of cell extracts, flow cytometry and confocal microscopy have been performed to determine the effects of these mutations. In silico analysis was also performed to predict the mutation effect. RESULTS AND CONCLUSION: From the six mutations, p.Arg257Trp turned out to be a non-pathogenic LDLR variant whereas p.Cys116Arg, p.Asp168Asn, p.Asp172Asn, p.Arg300Gly and p.Asp301Gly were classified as binding-defective LDLR variants whose effect is not as severe as null allele mutations.

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

OBJECTIVES: The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS: A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, Gothenburg, Sweden. Next-generation sequencing was performed in all subjects using SEQPRO LIPO RS, a kit that detects mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9) and LDLR adapter protein 1 (LDLRAP1) genes; copy-number variations in the LDLR gene were also examined. RESULTS: A total of 26 mutations were detected in 50 subjects (65% success rate). Amongst these, 23 mutations were in the LDLR gene, two in the APOB gene and one in the PCSK9 gene. Four mutations with unknown pathogenicity were detected in LDLR. Of these, three mutations (Gly505Asp, Ile585Thr and Gln660Arg) have been previously reported in subjects with FH, but their pathogenicity has not been proved. The fourth, a mutation in LDLR affecting a splicing site (exon 6-intron 6) has not previously been reported; it was found to segregate with high cholesterol levels in the family of the proband. CONCLUSIONS: Using a combination of clinical criteria and targeted next-generation sequencing, we have achieved FH diagnosis with a high success rate. Furthermore, we identified a new splicing-site mutation in the LDLR gene.

Mental health services for children exposed to armed conflict: Médecins Sans Frontières' experience in the Democratic Republic of Congo, Iraq and the occupied Palestinian territory.

BACKGROUND: Armed conflict has broad-ranging impacts on the mental health and wellbeing of children and adolescents. Mental health needs greatly exceed service provision in conflict settings, particularly for these age groups. The provision and targeting of appropriate services requires better understanding of the characteristics and requirements of children and adolescents exposed to armed conflict. METHODS: Routine patient and programme monitoring data were analysed for patients <20 years of age attending mental health services provided by Médecins Sans Frontières (MSF) in three countries affected by armed conflict: the Democratic Republic of Congo (DRC), Iraq and the occupied Palestinian territory (oPt). The demographic characteristics, presenting mental health complaint, attributed precipitating event, services provided and short-term outcomes for mental health services users in each country are described. RESULTS: Between 2009 and 2012, 3025 individuals <20 years of age presented for care in DRC and Iraq, and in 2012 in oPt, constituting 14%, 17.5% and 51%, respectively, of all presentations to MSF mental health services in those three countries. The most common precipitating event was sexual violence in DRC (36.5%), domestic violence in Iraq (17.8%) and incarceration or detention in oPt (33%). Armed conflict-related precipitants were reported by 25.9%, 55.0% and 76.4% of youths in DRC, Iraq and oPt, respectively. The most common presenting complaints in children and adolescents were anxiety-related, followed by mood-related, behaviour-related and somatisation problems; these varied according to country and precipitating event. Although a high proportion (45.7%) left programmes early, 97% of those who completed care self-reported improvement in their presenting complaint. CONCLUSIONS: Brief trauma-focused therapy, the current MSF mental health therapeutic intervention, appears to be effective in reducing symptoms arising from the experience of trauma. Although inferences on outcomes are limited by high default rates, this provides a feasible tool for addressing the mental health needs of children exposed to armed conflict. Priorities for future research include understanding why children and adolescents constitute a small proportion of patients in some programmes, why many leave care early and how to address these issues, but this research must occur within the context of efforts to provide access to mental health services for children.

Neuroimágenes sin evidencia de déficit dopaminérgico (SWEDD) / SWEDDs: scans without evidence of dopaminergic deficit

Introducción. Aproximadamente un 10% de los pacientes diagnosticados inicialmente de Enfermedad de Parkinson (E.P.), no presentan alteraciones en la vía dopaminérgica nigroestriatal en su vertiente presináptica; se engloban bajo el acrónimo SWEDDs (Scans without evidence of dopaminergic deficit) [1]. Objetivo. Revisar aquellos aspectos clínicos que pueden ayudar al diagnóstico diferencial de los SWEDDs, así como las bases del tratamiento. Desarrollo. Las técnicas complementarias empleadas en el diagnóstico de la E.P. como el DAT-SCAN, han favorecido que se establezca un diagnóstico diferencial entre estas dos entidades: E.P. y SWEDDs, cuya evolución, pronóstico y tratamiento será diferente. Conclusiones. El término SWEDDs incluye pacientes con temblor de reposo asimétrico y ausencia de disfunción de la vía dopaminérgica nigroestriatal. En casos dudosos la prueba complementaria a realizar es el DAT-SCAN. La hipótesis de que el temblor en SWEDDs pueda ser una forma de distonía primaria debe ser contrastada en futuros estudios [1]. El tratamiento de los pacientes con SWEDDs se basa en fármacos anticolinérgicos (AU)

Introduction. Approximately 10% of all patients initially diagnosed with Parkinson's disease (PD) do not present any alterations in the presynaptic nigrostriatal dopaminergic pathway; they are classified under the acronym SWEDDs (Scans without evidence of dopaminergic deficit). Aims. Our aim is to review those clinical aspects that can be of use in the differential diagnosis of the SWEDDs, as well as the bases of treatment. Development. The complementary techniques employed in the diagnosis of PD, like DAT-SCAN, have made a valuable contribution to establishing a differential diagnosis between these two conditions, i.e. PD and SWEDDs, whose development, prognosis and treatment will be different. Conclusions. The term SWEDDs includes patients with asymmetrical tremor at rest and absence of dysfunction of the nigrostriatal dopaminergic pathway. In doubtful cases, the complementary test to be conducted is DAT-SCAN. The hypothesis that claims that the tremor in SWEDDs may be a form of primary dystonia must be tested in future studies. The treatment of patients with SWEDDs is based on anticholinergic drugs (AU)

Thermoluminescence of zirconium oxide nanostructured to mammography X-ray beams.

In the present work thermoluminescent (TL) response of zirconium oxide (ZrO2) nanostructured induced by mammography X-ray radiation was investigated. Measurements were made of the response per unit air kerma of ZrO2 with mammography equipment parameters (semiautomatic exposure control, 24 kVp and 108 mAs). The calibration curves were obtained by simultaneously irradiating ZrO2 samples and ion chamber. Samples of ZrO2 showed a linear response as a function of entrance skin air kerma. The observed results in TL properties suggest that ZrO2 nanostructured could be considered as an effective material for X-ray beams dosimetry if appropriate calibration procedures are performed.