Predictive value of the feeling of emptiness in suicidal behaviour of emotionally unstable disorders.

PURPOSE: This study investigates the feeling of emptiness in patients with borderline personality disorder (BPD) and patients with eating disorder (ED) and its relationship with suicidal behaviour and childhood traumatic events. METHODOLOGY: One hundred three BPD patients and 107 ED patients were assessed with the Feeling of Emptiness Scale (FES) and the Traumatic Experiences Questionnaire (TQ). Suicidal behaviour was assessed with a specific interview for frequency and intensity of suicidal behaviour. RESULTS: Significant differences were found between the different factors of the FES between BPD patients and ED patients. A significant relationship was observed between Factors 1 and 4 of the FES and suicidal behaviour scores in both groups. Traumatic experiences were more strongly related to Factors 1, 2 and 4 in BPD patients. CONCLUSIONS: BPD patients and ED patients show similar scores in the global construct of feeling of emptiness. However, results suggest some qualitatively difference between the nature of feeling of emptiness in BPD and in ED. As expected, suicidal behaviour is most frequently in BPD patients, and is significantly associated with Factors 1 and 4 of the FES in both groups. Therefore, feeling of emptiness could be a predictor of suicidal behaviours in patients with emotional and behavioural instability.

Analysis of the virtual healthcare model in Latin America: a systematic review of current challenges and barriers.

Background: The virtual care model can be used in all aspects of healthcare, such as prevention, diagnosis, treatment, and follow-up of most medical and surgical conditions. The objective of this study was to identify the current barriers to implementing and consolidating the virtual healthcare model, of "telemedicine", in Latin American countries. Methods: A systematic review was conducted through four databases: PubMed, Scopus, Web of Science, and Virtual Health, including articles in Spanish, Portuguese, and English. A combination of Boolean operators was used with the terms "telemedicine", "telehealth", "telecare", "home care services", "remote care" and the name of each Latin American country. Articles published from January 2020 to January 2023 that reported on the barriers and challenges of using the virtual care model were included. Results: Nineteen articles were included. Brazil (n=5) and Argentina (n=4) were the countries where there was the greatest interest to explore barriers to virtual care. The barriers identified were categorized into five main themes: (I) technological and technical issues; (II) absence of a physical examination; (III) patient's negative perceptions; (IV) negative perceptions among healthcare professionals; and (V) structural obstacles and those associated with the healthcare system. The main obstacles reported were connectivity problems, lack of a complete physical examination, issues of privacy, high risk of medical malpractice, and absence of local regulation. Conclusions: The virtual care model is a safe and cost-effective alternative for the delivery of health services, with multiple benefits for patients and their families. The indication for the use of virtual care should be based on a risk model for patient prioritization. Likewise, the analysis of the main barriers and benefits is fundamental to consolidating this model of care and ensuring its expansion in the region.

P53 and cellular glucose uptake.

OBJECTIVES: Tumor protein p53 is a transcription factor involved with cellular responses to stressors including limited glucose availability. We hypothesized that modulating p53 levels would affect cellular glucose uptake. METHODS AND RESULTS: Transfecting cultured primary mouse hepatocytes with p53 siRNA suppressed p53 mRNA expression >90%. Control hepatocytes (transfected with non-targeting siRNA) increased glucose uptake (2.28 ± 1.02-fold vs basal, p 0.009) in response to 100 nM insulin, but p53 siRNA-treated hepatocytes had a blunted response (0.92 ± 0.11-fold vs basal; between group difference p 0.0012). In adipocytes differentiated from the pre-adipocyte line 3T3-L1, knockdown of p53 had no effect on insulin-stimulated glucose uptake. There were no differences in Glut 1 or Glut 2 expression in the plasma membrane fraction or in the levels of phosphorylated AKT in cell lysates between primary hepatocytes transfected with p53 siRNA or control siRNA. Glycemic responses to insulin tolerance, glucose tolerance, and pyruvate tolerance tests did not differ between p53 knockout and wild type mice. DISCUSSION: Thus, inhibition of p53 has pleiotropic effects, inhibiting glucose uptake in the liver but having no effect on adipocytes. Knockout of p53 has no apparent effect on glucose homeostasis in intact lean mice. An explanation for the association between p53 expression and hepatocyte glucose uptake remains to be elucidated.

[The genetics of epilepsy in the clinical practice]. / La genética de la epilepsia en la práctica clínica.

Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It is known that genetics play an important etiology roll. During the last decades it has been possible to find specific genes involved in the pathogenesis of this condition. There are currently multiple studies available in clinical practice for genetic diagnosis, the most useful being the next generation sequencing (NGS) techniques with multi-gene panels and whole exome sequencing. Having a genetic diagnosis can help improve the quality of life of each patient and their family, while it helps us to individualize the treatment, making it more effective. Some examples in which genetic diagnosis can modify therapeutic conduct include the SCN1A gene, in which it is recommended not to use drugs that block Sodium channels, and the SLC2A1 gene, in which starting ketogenic diet is recommended. The future of precision medicine research in epilepsy is very promising, with the goal that each patient receives treatment according to their genetic etiology.

La epilepsia es un trastorno neurológico caracterizado por crisis epilépticas recurrentes no provocadas, en el cual la genética tiene un factor etiológico importante. Durante las últimas décadas se ha logrado encontrar genes específicos involucrados en la patogénesis de esta condición. Actualmente existen múltiples exámenes disponibles en la práctica clínica para el diagnóstico genético, siendo los más útiles los paneles multi-genes y la secuenciación del exoma completo por medio de next generation sequencing (NGS). El tener un diagnóstico genético puede mejorar la calidad de vida de cada paciente y su familia, al mismo tiempo que nos ayuda a individualizar el tratamiento haciéndolo más eficaz. Algunos ejemplos en los que el diagnóstico genético puede modificar la conducta terapéutica incluyen el gen SCN1A en que se recomienda no utilizar medicamentos bloqueadores de canales de sodio y el gen SLC2A1 en el que se recomienda el inicio de la dieta cetogénica. El futuro de la investigación en medicina de precisión en epilepsia es muy prometedor, con el objetivo de que cada paciente reciba un tratamiento acorde a su etiología genética.

Immunogenicity, effectiveness and safety of COVID-19 vaccine in older adults living in nursing homes: A real-life study.

INTRODUCTION: BNT162b2 (BioNTech and Pfizer) is a nucleoside-modified mRNA vaccine that provides protection against SARS-CoV-2 infection and is generally well tolerated. However, data about its efficacy, immunogenicity and safety in people of old age or with underlying chronic conditions are scarce. PURPOSE: To describe BNT162b2 (BioNTech and Pfizer) COVID-19 vaccine immunogenicity, effectiveness and reactogenicity after complete vaccination (two doses), and immunogenicity and reactogenicity after one booster, in elders residing in nursing homes (NH) and healthy NH workers in real-life conditions. METHODS: Observational, ambispective, multicenter study. Older adults and health workers were recruited from three nursing homes of a private hospital corporation located in three Spanish cities. The primary vaccination was carried out between January and March 2021. The follow-up was 13 months. Humoral immunity, adverse events, SARS-CoV-2 infections, hospitalizations and deaths were evaluated. Cellular immunity was assessed in a participant subset. RESULTS: A total of 181 residents (mean age 84.1 years; 89.9% females, Charlson index ≥2: 45%) and 148 members of staff (mean age 45.2 years; 70.2% females) were surveyed (n:329). After primary vaccination of 327 participants, vaccine response in both groups was similar; ≈70% of participants, regardless of the group, had an antibody titer above the cut-off considered currently protective (260BAU/ml). This proportion increased significantly to ≈ 98% after the booster (p<0.0001 in both groups). Immunogenicity was largely determined by a prior history of COVID-19 infection. Twenty residents and 3 workers were tested for cellular immunity. There was evidence of cellular immunity after primary vaccination and after booster. During the study, one resident was hospitalized for SARS-CoV-2. No SARS-CoV-2-related deaths were reported and most adverse events were mild. CONCLUSIONS: Our results suggest that the BNT162b2 mRNA COVID-19 vaccine is immunogenic, effective and safe in elderly NH residents with underlying chronic conditions.

Meteorological Approach in the Identification of Local and Remote Potential Sources of Radon: An Example in Northern Iberian Peninsula.

This paper presents a meteorological approach to identify local and remote sources driving the variability of surface daily radon concentrations. To this purpose, hourly 222Rn concentration and surface meteorological measurements, and air mass trajectories at Bilbao station (northern Iberian Peninsula) during the period 2017-2018 have been taken as reference. To investigate the potential transport pathways and potential 222Rn sources, the backward trajectory cluster analysis, trajectory sector analysis (TSA), and potential source contribution function (PSCF) are applied. On average, the diurnal 222Rn cycle shows the expected behaviour, with larger concentrations during the night and minimum concentrations during the daylight hours, with differences in the seasonal amplitudes. According to daily differences between maximum and baseline values, 222Rn daily cycles were grouped into six groups to identify meteorological conditions associated with each amplitude, and potential source areas and transport routes of 222Rn over Bilbao. The trajectory cluster and the TSA method show that the main airflow pathways are from the south, with small displacement, and the northeast, while the analysis of surface wind speed and direction indicates that the highest amplitudes of 222Rn concentrations are registered under the development of sea-land breezes. The PSCF method identified south-western and north-eastern areas highly contributing to the 222Rn concentration. These areas are confirmed by comparing with the radon flux map and the European map of uranium concentration in soil. The results have demonstrated the need in combining the analysis of local and regional/synoptic factors in explaining the origin and variability of 222Rn concentrations.

Factors associated with parents' willingness to vaccinate their children against COVID-19: The LA pandemic surveillance cohort study.

Background: Children age 5-11 became eligible for COVID-19 vaccination in November 2021 in the United States, but vaccine uptake in this age group remains low. Understanding reasons why parents are hesitant to vaccinate their children may provide critical insights to help protect children from COVID-19 infection. This study examines factors associated with parents' willingness to vaccinate their children. Methods: We conducted a cross-sectional survey focusing on the Los Angeles County adult residents between March and June 2021. Our analytic sample focused on a subgroup of participants who self-report having a child. Predictors included parents' vaccination status and beliefs about COVID-19. We used multivariable logistic regression analysis and calculated the predicted probabilities of parents' willingness to vaccinate their children. Results: Parents (n = 401) who worried about catching the virus, had trust in vaccine development and the COVID-19 vaccine approval process, and vaccinated against COVID-19 were more likely to be willing to vaccinate their children. Socio-economic, racial and ethnic differences were no longer statistically significant in the adjusted model. Predicted probabilities of parents who were willing to vaccine their children were 55% among the vaccinated and 36% among the unvaccinated. Conclusions: Parents' intent to vaccinate their children is influenced by their perceived severity of the pandemic, trust in the vaccine development process, and their vaccination status, which can be the potential drivers of hesitancy to vaccinate their children.

Moderate to Intense Physical Activity Is Associated With Improved Clinical, CD4/CD8 Ratio, and Immune Activation Status in HIV-Infected Patients on ART.

BACKGROUND: Physical activity has anti-inflammatory effects and reduces morbidity and mortality in the general population, but its role in the clinical, CD4/CD8 ratio, and immune activation status of HIV-infected patients has been poorly studied. METHODS: A cross-sectional study was carried out in a cohort of 155 HIV-infected patients on stable antiretroviral therapy (ART) to compare clinical, biochemical, CD4/CD8 ratio, and immune activation status according to their physical activity in the last 2 years (sedentary/low vs moderate/intense) assessed by the iPAQ. A binary logistic regression and mixed analysis of variance were performed to evaluate the impact of levels of physical activity on CD4/CD8 ratio. RESULTS: In our series, 77 (49.7%) out of 155 patients were sedentary, and 78 (50.3%) practiced moderate/intense physical activity. Moderate/intense physical activity was associated with better metabolic control (lower body mass index, P = .024; glucose, P = .024; and triglyceride, P = .002) and CDC HIV stage (P = .046), lower CD8+ (P =  .018), CD4+CD8+ (P = .026), CD4+CD86+ (P = .045), CD4+HLA-DR+ (P = .011), CD8+HLA-DR+ (P = .048) T lymphocytes and CD16+HLA-DR+ natural killer cells (P = .026), and higher CD3+CD4+ T lymphocytes (P = .016) and CD4/CD8 ratio (P = .001). Sedentary lifestyle (odds ratio [OR], 2.12; P = .042), CD4 nadir (OR, 1.005; P < .001), and CD8+CD38+ T cells (OR, 1.27; P = .006) were independently associated with low CD4/CD8 ratio (<0.8). Earlier and more intense CD4/CD8 ratio recovery was observed in patients with higher physical activity in the 2-year follow-up with a significant interaction between these variables: F(2, 124) = 3.31; P = .049; partial η2 = 0.042. CONCLUSIONS: Moderate to high physical activity is associated with beneficial health effects, improvement in metabolic profile, and reduction of chronic inflammation in patients with HIV. Although more studies and clinical trials are needed to confirm these findings, a healthy lifestyle including at least moderate physical activity should be recommended to HIV patients on stable ART.

Perception of the healthcare accreditation system in Colombia.

Introduction: Accreditation is an external, systematic, periodic, and voluntary evaluation process to which health care institutions submit themselves in order to demonstrate compliance with superior levels of quality of care. The Icontec, through an evaluative model, accredits the quality of health institutions in Colombia. Methods: Descriptive cross-sectional study following the recommendations of the survey study report. Using an electronic format, 22 health institutions with experience in the Icontec accreditation process were surveyed. The instrument evaluated three thematic axes of the process: added value provided by the accreditation process, evaluation process and final report. The measurement was carried out using a Likert-type scale and a descriptive statistical analysis to establish the perception of the phases of the process. Results: the items with the best perception were the humanization of care (86.4%) followed by patient safety and teamwork (81.8%). After accreditation, the quality of the processes improved (77.4%), infection prevention and control (68.1%) and physician commitment (63.6%). 54.6% felt that evaluators use different methods of evaluation. 63.6% of the respondents considered that Icontec does not comply with the times defined for the delivery of the report. Conclusion: the Icontec accreditation system adds value to health institutions in most of the thematic areas evaluated, especially in the humanization of care and patient safety. The lowest perception is presented in the increase of physicians' commitment.

Introducción: la acreditación es un proceso de evaluación externo, sistemático, periódico y voluntario al que se someten instituciones de salud para demostrar el cumplimiento de niveles superiores de calidad en la atención. El Icontec, Instituto colombiano de normas técnicas, es la organización colombiana no gubernamental designada por el Ministerio de Salud para ser la entidad que acredita la calidad de las instituciones de salud en Colombia. El objetivo del presente estudio fue evaluar la percepción del valor que agrega la acreditación a la calidad de la atención en clínicas y hospitales en Colombia. Métodos: estudio transversal observacional. Se encuestaron 22 profesionales con experiencia en el proceso de acreditación Icontec. El instrumento evaluó tres ejes temáticos del proceso: valor agregado que aporta el proceso de acreditación, proceso de evaluación e informe final. La percepción de las fases del proceso fue medida a través de una escala tipo Likert y un análisis estadístico descriptivo. Resultados: los ítems con mejor percepción fueron la humanización de la atención (86.4%), la seguridad de los pacientes y el trabajo en equipo (81.8%). Laacreditación mejora la calidad de los procesos (77.4%), la prevención y el control de infecciones (68.1%) y el compromiso de los médicos (63.6%). El 54.6% consideró que los evaluadores utilizan métodos diferentes de evaluación. El 63.6% de los encuestados consideró que Icontec no cumple con los tiempos definidos para la entrega del informe. Conclusión: el sistema de acreditación Icontec en Colombia, agrega valor a las instituciones de salud en la mayoría de los ejes temáticos evaluados. La percepción más baja se presenta en el incremento de compromiso de los médicos.

Subclinical atherosclerosis and immune activation in young HIV-infected patients with telomere shortening.

BACKGROUND: To date, available data on premature aging in young HIV-infected adults are scarce and no reports offer comprehensive assessment of telomere shortening (TS) in relation to subclinical atherosclerosis (SCA). In this study, we investigate if telomere shortening and immune activation markers are associated with SCA, which is one of the main degenerative diseases in young HIV-infected adults. METHODS: A descriptive cross-sectional study was carried out in 149 HIV-infected patients on stable antiretroviral regimen (ART). Carotid intima-media thickness (cIMT) was estimated by carotid ultrasound. Quantitative singleplex PCR was performed to evaluate TS. The expression of activation/senescence markers was evaluated by multiparametric flow cytometry. RESULTS: TS was observed in 73 patients (49%). Higher cIMT was observed in patients with TS than those without it (0.86 vs. 0.80 mm; p=0.041). Patients under the age of 50 (defined as young adults) with TS showed higher absolute numbers of activated lymphocyte T cells CD8+CD38+ (3.94 vs. 2.34 cell/µl; p=0.07) and lymphocyte B cells CD19+CD38+ (3.07 vs. 2.10 cell/µl; p=0.004) compared to those without TS. In the multivariate analysis, the only factor independently associated with TS was the absolute number of lymphocyte T cells CD8+CD38+ T cells (OR = 1.18; 95%-CI = 1.00-1.39; p = 0.05). CONCLUSION: Young HIV-infected adults show premature biological aging with accentuated immune activation. Chronic inflammation with excessive T-cells activation could be associated to TS, premature aging, and SCA in young HIV-infected adults.

Coronavirus (COVID 19) Infection in Pregnancy.

Coronavirus illness 2019 (COVID-19) is an airways infection caused by the new coronavirus (SARS-CoV-2) which has been quickly disseminated all over the world, affecting to the general population including women in pregnancy time. As being a recent infection, the evidence that supports the best practices for the management of the infection during pregnancy is limited, and most of the questions have not been completely solved yet. This publication offers general guidelines focused on decision-making people, managers, and health's teams related to pregnant women attention and newborn babies during COVID-19 pandemic. Its purpose is to promote useful interventions to prevent new infections as well as prompt and adequate attention to avoid serious complications or deaths, trying to be adapted to the different contexts in which attention to expectant mothers is provided. Guidelines are set within a well-scientific evidence and available recommendations up to date.

La enfermedad por coronavirus 2019 (COVID-19) es una infección de las vías respiratorias causada por un nuevo virus (SARS-CoV-2) que se ha diseminado rápidamente en el mundo, afectando a la población general, incluida la población de mujeres cursando un embarazo. Por ser una infección de aparición reciente, la información que soporta las mejores prácticas para el manejo de la infección durante la gestación es escasa y muchas de las preguntas no están completamente resueltas.Esta publicación brinda lineamientos generales orientados a tomadores de decisión, gerentes y equipos de salud en relación con el cuidado de mujeres gestantes y recién nacidos durante la pandemia por COVID 19. Su finalidad es promover intervenciones beneficiosas para prevenir nuevos contagios, y la atención oportuna y adecuada de la gestante para evitar complicaciones graves y/o muertes, adecuándose a los distintos contextos en los que se proporciona atención médica. Los lineamientos se enmarcan en la mejor información científica y las recomendaciones disponibles hasta la fecha.

Extreme Maternal Morbidity: a tracer event to improve the quality of obstetric care in Latin America.

This article reviews critical aspects that have had an impact on the implementation of epidemiological surveillance of extreme maternal morbidity, as a tracer event of quality maternal care at population and institutional level; taking into account that maternal mortality has been usually monitored, and its analysis allows interventions to avoid maternal death. Until 2015, very few countries had been able to meet the goals established in the Millennium Development Goals (MDGs), especially MDG 5 - improving maternal health. As of today, it is observed that maternal mortality rate is quite heterogeneous, with rates from 1 case per 100,000 live births in developed countries, to more than 100 cases per 100,000 live births in developing countries. Therefore, complementary strategies such as surveillance of the extreme maternal morbidity could offer a more effective alternative to identify and implement interventions that allow us to prevent mortality and strengthen the quality of obstetric care. In addition, the importance of extreme maternal morbidity as a quality tracer event is that, unlike what is observed with maternal mortality, this is an event that occurs more frequently, is anticipatory of death, and the surviving pregnant woman is the primary source of information.

Este artículo revisa aspectos críticos que han tenido incidencia en la implementación de la vigilancia epidemiológica de la morbilidad materna extrema, como un evento trazador de calidad del cuidado materno a nivel poblacional e institucional, ya que usualmente se ha monitoreado la mortalidad materna y su análisis permite realizar intervenciones para evitar la muerte materna. Para el año 2015, muy pocos países lograron cumplir las metas establecidas en los Objetivos de Desarrollo del Milenio (ODM), especialmente el ODM 5- mejorar la salud materna. Al día de hoy se observa que la tasa de mortalidad materna es bastante heterogénea con tasas desde 1 caso por 100,000 nacidos vivos en países desarrollados, hasta más de 100 casos por cada 100,000 nacidos vivos en países en vía de desarrollo. Por lo tanto, estrategias complementarias como la vigilancia de la mortalidad materna extrema podrían ofrecer una alternativa más eficaz para identificar e implementar intervenciones que nos permitan prevenir la mortalidad y fortalecer la calidad de atención obstétrica, a partir de información más confiable y sin esperar que ocurra una muerte materna.

Usability, Acceptability, and Usefulness of an mHealth App for Diagnosing and Monitoring Patients With Breakthrough Cancer Pain.

BACKGROUND: Breakthrough pain is a major problem and a source of distress in patients with cancer. We hypothesized that health care professionals may benefit from a real-time mobile app to assist in the diagnosis and monitoring of breakthrough cancer pain (BTcP). OBJECTIVE: This study aimed to test the usability, acceptability, and usefulness in real-world practice of the mobile App INES·DIO developed for the management of patients with BTcP. METHODS: This study consisted of a survey of a multidisciplinary sample of 175 physicians who evaluated the mobile app after testing it with 4 patients with BTcP each (for a total of 700 patients). The digital profile of the physicians, use of the different resources contained in the app, usefulness of the resources, acceptability, usability, potential improvements, intention to use, and additional resources to add were recorded. RESULTS: Of the 175 physicians, 96% (168/175) were working in public hospitals. They had an average of 12 (SD 7) years of experience in BTcP and almost all (174/175, 99.43%) had an active digital profile. The Eastern Cooperative Oncology Group and Karnofsky performance scales, the Visual Analogue Scale, and the Davies algorithm to diagnose BTcP were the most frequently used tools with patients and were assessed as very useful by more than 80% (140/175) of physicians. The majority (157/175, 90%) answered that App INES·DIO was well designed and 94% (165/175) would probably or very probably recommend it to other colleagues. More than two-thirds indicated that the report provided by the app was worth being included in patients' clinical records. The most valued resource in the app was the recording of the number, duration, and intensity of pain flares each day and baseline pain control to enhance diagnosis of BTcP. Additional patient-oriented cancer pain educational content was suggested for inclusion in future versions of App INES·DIO. CONCLUSIONS: Our study showed that App INES·DIO is easy to use and useful for physicians to help diagnose and monitor breakthrough pain in patients with cancer. Participants suggested the implementation of additional educational content about breakthrough pain. They agreed on the importance of adding new clinical guidelines/protocols for the management of BTcP, improving their communication skills with patients, and introducing an evidence-based video platform that gathers new educational material on BTcP.

Usefulness of 18F-Fluorocholine Positron Emission Tomography-Computed Tomography in Locating Lesions in Hyperparathyroidism: A Systematic Review.

IMPORTANCE: Identifying parathyroid glands correctly before a surgical procedure is essential to perform minimally invasive surgery. First-line tests with discordant or negative results underscore the need for more accurate imaging tests, thus decreasing the requirement for bilateral neck exploration or reintervention. OBJECTIVE: To review the available evidence to determine positive predictive value, negative predictive value, sensitivity, and specificity in clinical cases in which 18F-fluorocholine positron emission tomography-computed tomography (PET/CT) could be useful as a method to locate the lesions, and the benefits and controversial aspects of the method. EVIDENCE REVIEW: A search was conducted using the PubMed Central and Cochrane Library databases for studies published in English from July 26, 2014, to November 30, 2018, using the search terms 18 choline, 18F choline, 18F-choline, 18 fluorocholine PET CT, hyperparathyroidism, primary hyperparathyroidism, secondary hyperparathyroidism, tertiary hyperparathyroidism, persistent hyperparathyroidism, recurrent hyperparathyroidism, ectopic hyperparathyroidism, and parathyroid adenoma. Other inclusion criteria were reporting at least 1 of the following measurements: negative or positive predictive value, sensitivity, and specificity of 18F-fluorocholine PET/CT in the diagnosis of hyperparathyroidism (HPT). Exclusion criteria were language other than English, use of a tracer other than 18F-fluorocholine, reports of a single case, and studies not related to HPT. The Oxford Centre classifications for levels of evidence were used. FINDINGS: Sixteen studies fulfilled the inclusion criteria, comprising a total of 619 patients. Selected studies included 10 prospective cohort studies, 5 retrospective cohort studies, and 1 case series. Of the subtypes of HPT diagnosed using 18F-fluorocholine PET/CT, 579 were primary HPT, 22 were secondary HPT, 1 was tertiary HPT, and 7 were associated with multiple endocrine neoplasia type I. Pathologically, the neoplasms comprised 459 adenomas, 59 hyperplasia, and 19 double adenomas. CONCLUSIONS AND RELEVANCE: 18F-fluorcholine PET/CT may be indicated when results of first-line tests are negative or discordant and in challenging clinical situations where locating the source of HPT is difficult.

Preoperative chemoradiotherapy for rectal cancer: randomized trial comparing oral uracil and tegafur and oral leucovorin vs. intravenous 5-fluorouracil and leucovorin.

PURPOSE: To compare, in a randomized trial, 5-fluorouracil (FU) plus leucovorin (LV) (FU+LV) vs. oral uracil and tegafur (UFT) plus LV (UFT+LV) given concomitantly with preoperative irradiation in patients with cT3-4 or N+ rectal cancer. METHODS AND MATERIALS: A total of 155 patients were entered onto the trial. Patients received pelvic radiotherapy (4500-5,040 cGy in 5 to 6 weeks) and chemotherapy consisting of two 5-day courses of 20 mg/m(2)/d LV and 350 mg/m(2)/d FU in the first and fifth weeks of radiotherapy (77 patients) or one course of 25 mg/d oral LV and 300 mg/m(2)/d UFT for 4 weeks beginning in the second week of radiotherapy (78 patients). The primary endpoints were pathologic complete response (pCR) and resectability rate. Secondary endpoints included downstaging rate, toxicity, and survival. RESULTS: Grade 3-5 acute hematologic toxicity occurred only with FU+LV (leukopenia 9%; p = 0.02). There were no differences in resectability rates (92.1% vs. 93.4%; p = 0.82). The pCR rate was 13.2% in both arms. Tumor downstaging was more frequent with UFT+LV (59.2% vs. 43.3%; p = 0.04). Three-year overall survival was 87% with FU+LV and 74% with UFT+LV (p = 0.37). The 3-year cumulative incidences of local recurrence were 7.5% and 8.9%, respectively (p = 0.619; relative risk, 1.46; 95% confidence interval 0.32-6.55). CONCLUSION: Although this study lacked statistical power to exclude clinically significant differences between both groups, the outcome of patients treated with UFT+LV did not differ significantly from that of patients treated with FU+LV, and hematologic toxicity was significantly lower in the experimental arm.

Radiochemotherapy with cisplatin and oral tegafur in advanced head and neck cancer: long-term results of a phase II study.

AIMS AND BACKGROUND: To evaluate the tolerance and efficacy of an original concurrent radiochemotherapy regimen in locally advanced head and neck cancer. METHODS: Sixty-four patients with stage III or IV squamous cell carcinoma arising from a head and neck mucosal site were eligible. Simultaneous radiochemotherapy consisted of two courses of continuous infusional cisplatin (20 mg/m2/d, days 1-4 and 29-32) and oral tegafur (1200 mg/d, days 1-14 and 29-43), together with conventional radiation therapy up to a total dose of 70-75 Gy over nine weeks. RESULTS: All the patients were evaluated for toxicity and response. Acute mucositis was the most prevalent complication. Grade 3 toxicities were mucositis (44%), skin toxicity (10%), leukopenia (8%), and thrombocytopenia (1%). No toxic death was observed. Complete response to treatment was observed in 72% of patients. With a median follow-up of 48.5 months (range, 27-84), 5-year actuarial rate of local-regional control, disease-free survival, overall survival and disease-specific survival were 60% (95% confidence interval [CI], 40-70%), 55% (95% CI, 45-65%), 51% (95% CI, 43-59%) and 61% (95% CI, 53-69%), respectively. CONCLUSIONS: Response, local-regional control and survival rates are equivalent to those reported from other concomitant radiochemotherapy combinations. However, the regimen offers the advantage of its tolerance and toxicity profile.

Metastatic disease from chordoma.

Chordomas are tumors with a bad prognosis, because of their location, local aggressiveness and high rate of local relapse. Despite of be benign tumors, they have certain capacity of metastasize and a clinical evolution that results interesting. When we analyzed our series with 35 chordomas studied and treated between 1975 and 2002, we found three patients that experienced a systemic dissemination.

La genética de la epilepsia en la práctica clínica / The genetics of epilepsy in the clinical practice

Resumen La epilepsia es un trastorno neurológico caracterizado por crisis epilépticas recurrentes no provocadas, en el cual la genética tiene un factor etiológico importante. Durante las últimas décadas se ha logrado encontrar genes específicos involucrados en la patogénesis de esta condición. Actualmente existen múltiples exámenes disponibles en la práctica clínica para el diagnóstico genético, siendo los más útiles los paneles multi-genes y la secuenciación del exoma completo por medio de next generation sequencing (NGS). El tener un diagnósti co genético puede mejorar la calidad de vida de cada paciente y su familia, al mismo tiempo que nos ayuda a individualizar el tratamiento haciéndolo más eficaz. Algunos ejemplos en los que el diagnóstico genético puede modificar la conducta terapéutica incluyen el gen SCN1A en que se recomienda no utilizar medicamentos bloqueadores de canales de sodio y el gen SLC2A1 en el que se recomienda el inicio de la dieta cetogénica. El futuro de la investigación en medicina de precisión en epilepsia es muy prometedor, con el objetivo de que cada paciente reciba un tratamiento acorde a su etio logía genética.

Abstract Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It is known that genetics play an important etiology roll. During the last decades it has been possible to find specific genes involved in the pathogenesis of this condition. There are currently multiple studies available in clinical practice for genetic diagnosis, the most useful being the next generation se quencing (NGS) techniques with multi-gene panels and whole exome sequencing. Having a genetic diagnosis can help improve the quality of life of each patient and their family, while it helps us to individualize the treatment, making it more effective. Some examples in which ge netic diagnosis can modify therapeutic conduct include the SCN1A gene, in which it is recommended not to use drugs that block Sodium channels, and the SLC2A1 gene, in which starting ketogenic diet is recommended. The future of precision medicine research in epilepsy is very promising, with the goal that each patient receives treatment according to their genetic etiology.