Memory and language risk assessment with Wada test in patients candidates for epilepsy surgery. / Evaluación de la memoria y el lenguaje mediante el test de Wada en pacientes candidatos a cirugía de epilepsia.

AIM: To determine post-surgical cognitive risk and associated factors according to lesion location in a sample of patients evaluated for epilepsy surgery with Wada test at the Fundacion Instituto Neurologico de Colombia. MATERIALS AND METHODS: An observational, retrospective, analytical study was completed in patients with drug-resistant temporal lobe epilepsy candidates for epilepsy surgery treated from 2001 to 2021, who completed the Wada test as part of the pre-surgical evaluation. A descriptive analysis of sociodemographic, clinical, imaging and neuropsychological variables was completed; a multivariate logistic regression was performed analyzing factors associated with resection risk in patients with left lesions. RESULTS A total of 369 patients were included, 54.74% of the cases were women, with a median age of seizure onset of 11 years. 92.66% of the cases had lesional epilepsy and 68.56% were secondary to hippocampal sclerosis. Left hemisphere was the most frequently affected (65.68%) being dominant for memory and language in most of the patients with a proportion of 42.82% and 81.3%, respectively. The median functional adequacy was 43.75 (IQR 0-75) and the functional reserve was 75 (IQR 25 -93.75). In 104 patients, the Wada test determined a resection risk. In patients with a left lesion, it was found that functional reserve (PRadjusted 0.99, CI 95% 0.9997-0.9998) and having a right hemispheric dominance for memory (PRadjusted 0.92, CI 95% 0.547-0.999) were protective factors for post-surgical resection risk. CONCLUSION: Wada test is a useful tool for surgical decision-making in patients with drug-resistant temporal lobe epilepsy. When considering cognitive risk, components such as memory dominance and functional reserve should be considered as protective factors for postsurgical cognitive function preservation in patients with left lesions.

TITLE: Evaluación de la memoria y el lenguaje mediante el test de Wada en pacientes candidatos a cirugía de epilepsia.Objetivo. Determinar el riesgo cognitivo posquirúrgico y factores asociados según la localización de la lesión en una muestra de pacientes evaluados para cirugía de epilepsia con el test de Wada en la Fundación Instituto Neurológico de Colombia. Materiales y métodos. Se realizó un estudio observacional, retrospectivo y analítico en pacientes con epilepsia farmacorresistente del lóbulo temporal candidatos a cirugía de epilepsia tratados entre 2001 y 2021, que completaron el test de Wada como parte de la evaluación prequirúrgica. Se realizó un análisis descriptivo de variables sociodemográficas, clínicas, imagenológicas y neuropsicológicas. Se realizó una regresión logística multivariada analizando factores asociados al riesgo de resección en pacientes con lesiones izquierdas. Resultados. Se incluyó a 369 pacientes, el 54,74% de los casos fueron mujeres, con una mediana de edad de inicio de las convulsiones de 11 años. El 92,66% de los casos presentó epilepsia lesional; de éstos, el 68,56% fue secundario a esclerosis hipocampal. El hemisferio izquierdo fue el más frecuentemente afectado (65,68%), y éste fue dominante para la memoria y el lenguaje en la mayoría de los pacientes, con una proporción del 42,82 y el 81,3%, respectivamente. La mediana de adecuación funcional fue de 43,75 (rango intercuartílico: 0-75) y la reserva funcional de 75 (rango intercuartílico: 25-93,75). En 104 pacientes, el test de Wada determinó un riesgo de resección. En pacientes con lesiones izquierdas se encontró que la reserva funcional (razón de prevalencia ajustada: 0,99; intervalo de confianza al 95%: 0,9997-0,9998) y tener dominancia del hemisferio derecho para la memoria (razón de prevalencia ajustada: 0,92; intervalo de confianza al 95%: 0,547-0,999) fueron factores asociados para determinar el riesgo de resección posquirúrgico en el test de Wada. Conclusión. El test de Wada es una herramienta útil para la toma de decisiones quirúrgicas en pacientes con epilepsia del lóbulo temporal farmacorresistente. Componentes como la dominancia de la memoria y la reserva funcional en el test de Wada deben considerarse como factores que se deben tener en cuenta en la predicción de la preservación de la función cognitiva posquirúrgica en pacientes con lesiones izquierdas.

Effectiveness of Twitter Threads to Improve Medical Student Electrocardiogram (ECG) Reading-Skills. The TwittUVa-ECG Non-Randomized Pre-Post Study.

Introduction: social media is increasingly used in medical education, but its real educational effectiveness is unclear. In this study we assess the effectiveness of Twitter threads (TTS) in improving electrocardiogram (ECG) basic reading skills (ECGBRS). Materials and Methods: Seven TTS describing ECGBRS were published from October 28, 2021, to November 24, 2021. Tests were used to assess medical students ECGBRS pre and post intervention. All third and sixth-year medical students were invited to participate. Sixty-three students were enrolled (33 third year and 30 sixth year). Nine (14.3%) participants dropped out. Results: Sixth year medical students had higher ECGBRS at baseline. The number of correct items increased after the Twitter intervention; median correct pre-test items were 20 out of 56, (interquartile range (IQR) 14-23), and median post-test were 29 out of 56, (IQR 21-36) (p < 0.001). The improvement in sixth year students was greater than for third year students; 10 more correct items (IQR 4-14) vs. 7 (IQR 1-14) items (p = 0.045). The more TTS followed, the greater the improvement in ECGBRS (p = 0.004). The QRS axis calculation was the ECG reading skill with the lowest scores. Most medical students were definitely (35%) or very probably (46%) interested in repeating another on-line learning experience and found the TTS extremely (39%) or very (46%) interesting. Conclusions: The use of specifically designed TTS was associated with improvement in medical students' interpretation of ECGs. The effectiveness of the threads was higher in the final years of medical school when basic skills had already been acquired. Supplementary Information: The online version contains supplementary material available at 10.1007/s40670-023-01885-x.

Resumen ejecutivo de las guías de práctica clínica en la osteoporosis posmenopáusica, glucocorticoidea y del varón (actualización 2022). Sociedad Española de Investigación Ósea y del Metabolismo Mineral (SEIOMM) / Executive summary clinical practice guideline of postmenopausal, glucocortcioid-induced and male osteoporosis (2022 update). Spanish Society for Bone and Mineral Metabolism Investigation (SEIOMM)

Esta versión actualizada de las guías de osteoporosis de la Sociedad Española de Investigación en Osteoporosis y Metabolismo Mineral (SEIOMM) incorpora la información más relevante publicada en los últimos 7años, desde las guías de 2015, con estudios de imagen, como la valoración de la fractura vertebral y el análisis del índice trabecular óseo. Además, los avances terapéuticos incluyen los nuevos fármacos anabólicos, los estudios comparativos de la eficacia de los fármacos y la terapia secuencial y combinada. Por ello se actualizan también las recomendaciones de los tratamientos (AU)

This updated version of the Spanish Society for Research in Osteoporosis and Mineral Metabolism (SEIOMM) osteoporosis guides incorporate the most relevant information published in the last 7years, since the 2015 guides, with imaging studies, such as vertebral fracture assessment and bone trabecular score analysis. In addition, therapeutic advances include new anabolic agents, comparative studies of drug efficacy, and sequential and combined therapy. Therefore, therapeutic algorithms are also updated (AU)

Executive summary clinical practice guideline of postmenopausal, glucocortcioid-induced and male osteoporosis (2022 update). Spanish Society for Bone and Mineral Metabolism Investigation (SEIOMM).

This updated version of the Spanish Society for Research in Osteoporosis and Mineral Metabolism (SEIOMM) osteoporosis guides incorporate the most relevant information published in the last 7 years, since the 2015 guides, with imaging studies, such as vertebral fracture assessment and bone trabecular score analysis. In addition, therapeutic advances include new anabolic agents, comparative studies of drug efficacy, and sequential and combined therapy. Therefore, therapeutic algorithms are also updated.

Resumen ejecutivo de las Guías de práctica clínica en la osteoporosis postmenopáusica, glucocorticoidea y del varón (actualización 2022) / Executive summary clinical practice guideline of postmenopausal, glucocorticoid-induced, and male osteoporosis (2022 update)

Esta versión actualizada de la Guía de osteoporosis de la SEIOMM (Sociedad Española de Investigación en Osteoporosis y Metabolismo Mineral) incorpora la información más relevante publicada en los últimos 7 años, desde la Guía de 2015, con estudios de imagen, como la valoración de la fractura vertebral y el análisis del índice trabecular óseo. Además, los avances terapéuticos incluyen los nuevos fármacos anabólicos, los estudios comparativos de la eficacia de los fármacos y la terapia secuencial y combinada. Por ello se actualizan también las recomendaciones de los tratamientos. (AU)

Guías de práctica clínica en la osteoporosis postmenopáusica, glucocorticoidea y del varón (actualización 2022). Sociedad Española de Investigación Ósea y del Metabolismo Mineral (SEIOMM) / Clinical practice guidelines in postmenopausal, glucocorticoid and male osteoporosis (update 2022). Spanish Society for Bone and Mineral Metabolism Research (SEIOMM)

Esta actualización de las Guías incorpora la información más relevante aparecida durante los 7 años trascurridos desde la publicación de la versión anterior, especialmente en cuanto a procedimientos diagnósticos y opciones terapéuticas. Entre los primeros, merece la pena destacar la incorporación del TBS y la detección de fracturas vertebrales por densitometría. Entre los tratamientos, se consideran los nuevos fármacos anabólicos, los estudios comparativos de eficacia en osteoporosis grave, las pautas de actuación tras la suspensión de los antirresortivos y otros esquemas de tratamiento secuencial y combinado. Teniendo en cuenta todo ello, se actualizan los esquemas de tratamiento recomendados. (AU)

Decoherence of photon entanglement by transmission through brain tissue with Alzheimer's disease.

The generation, manipulation and quantification of non-classical light, such as quantum-entangled photon pairs, differs significantly from methods with classical light. Thus, quantum measures could be harnessed to give new information about the interaction of light with matter. In this study we investigate if quantum entanglement can be used to diagnose disease. In particular, we test whether brain tissue from subjects suffering from Alzheimer's disease can be distinguished from healthy tissue. We find that this is indeed the case. Polarization-entangled photons traveling through brain tissue lose their entanglement via a decohering scattering interaction that gradually renders the light in a maximally mixed state. We found that in thin tissue samples (between 120 and 600 micrometers) photons decohere to a distinguishable lesser degree in samples with Alzheimer's disease than in healthy-control ones. Thus, it seems feasible that quantum measures of entangled photons could be used as a means to identify brain samples with the neurodegenerative disease.

Patrón de intoxicaciones pediátricas en Urgencias. Evolución tras 20 años / Pattern of pediatric poisoning in the ER. Evolution after 20 years

Objetivo. Describir y comparar los datos de las intoxicaciones pediátricas, por fármacos y no medicamentosas, enla urgencia pediátrica en 2 cohortes de 2 décadas distintas.Material y métodos. En este estudio descriptivo retrospectivo, de 2 cohortes de pacientes que acudieron a Urgencias en el año 1997 y en el año 2015. Se compararon lascaracterísticas epidemiológicas, clínicas, la adecuación deltratamiento a las guías de los pacientes menores de 14 añosque acudieron a las Urgencias Pediátricas de nuestro hospital.Resultados. En nuestra serie ha habido un aumento delas intoxicaciones por medicamentos, de un 40% en 1997 a un53% en 2015. Por el contrario, se ha encontrado un descensorelativo de las consultas por tóxicos no medicamentosos 60%vs 47%. La distribución por sexo, con predominio femeninoen las intoxicaciones farmacológicas, y masculino en las nofarmacológicas. Las características clínicas no han variado,predominando al clínica digestiva y neurológica. Los tóxicosimplicados han variado con relación a las indicaciones encada período de tiempo, desapareciendo las intoxicacionespor aspirina en la última década. El tratamiento en Urgenciasse ha adecuado a los estándares de calidad que publican lassociedades científicas, abandonando tratamientos que se handemostrado de baja eficacia, como el jarabe de ipecacuanay los lavados gástricos. Los ingresos en nuestra serie handisminuido de un 25% vs 3%, contribuyendo entre otrascausas el desarrollo y especialización de las Unidades deUrgencias Pediátricas.Conclusiones. A pesar de que ciertos datos indican unamejora de la asistencia, sigue habiendo muchos puntos demejora para que la morbimortalidad de las intoxicaciones en pediatría disminuya (AU)

Objective. To describe and compare data on pediatricpoisonings, drug and non-drug, in the pediatric emergencydepartment in 2 cohorts from 2 different decades.Material and methods. This is a retrospective descriptive study of 2 cohorts of patients attending the emergencydepartment in 1997 and 2015. We compared the epidemiological and clinical characteristics and the adequacy of treatmentaccording to the guidelines of patients under 14 years of age,who were attended at the pediatric emergency departmentof our hospital.Results. In our series there has been an increase in drugpoisonings, from 40% in 1997 to 53% in 2015. In contrast,there was a relative decrease in consultations for non-drugintoxications, 60% vs 47%. The distribution by sex, with afemale predominance in pharmacological poisonings, and amale predominance in non-pharmacological poisonings. The clinical characteristics did not vary, with a predominance ofdigestive and neurological symptoms. The toxins involvedhave varied in relation to the indications in each period oftime, the aspirin poisonings disappearing in the last decade.Treatment in the emergency Department has been adaptedto the quality standards published by scientific societies,treatments that have been shown to be of low efficacy hasbeen abandoned, such as syrup of ipecac and gastric lavage.Admissions in our series have decreased by 25% vs 3%,contributed among other causes by the development andspecialisation of paediatric emergency units.Conclusions. Despite certain data indicating an improvement in care, there are still many points of improvementfor the morbidity and mortality of poisoning in pediatrics to decrease. (AU)

Profile of patients who consult with internists for an osteoporosis assessment: The OSTEOMED registry.

BACKGROUND AND OBJECTIVES: Osteoporosis is considered a generalised skeletal disorder in which there is impaired bone resistance, which predisposes the individual to a greater risk of fracture. The aim of this cross-sectional study was to collect and present data on the main clinical characteristics of patients who consult medical internists in Spain. Understanding these characteristics can help in implementing action plans to improve these patients' care more effectively and efficiently. MATERIAL AND METHODS: Through an analysis of the Osteoporosis in Internal Medicine (OSTEOMED) registry, this study presents the main clinical characteristics of patients with osteoporosis who attended internal medicine consultations in 23 Spanish hospital centres between 2012 and 2017. We analysed the reasons for the consultations, the densitometric values, the presence of comorbidities, the prescribed treatment and other lifestyle-related factors. RESULTS: In total, 2024 patients with osteoporosis were assessed (89.87% women, 10.13% men). The patients' mean age was 64.1±12.1 years (women, 64.7±11.5 years; men, 61.2±14.2 years). There was no significant difference between the sexes in their history of recent falls (9.1% and 6.7%); however, there were significant differences in the daily intake of calcium from milk products (553.8±332.6mg for women vs. 450.2±303.3mg for men; p<.001) and in the secondary causes of osteoporosis (13% of men vs. 6.5% of women; p<.001). In the sample, there were 404 fractures (20%), with a notable number of confirmed vertebral fractures (17.2%, 35.6% in men vs. 15.2% in women; p<.001). A large portion of the patients did not undergo the indicated treatment and presented low levels of physical activity and sun exposure. A significant percentage of the patients presented associated comorbidities, the most common of which were hypertension (32%) and dyslipidaemia (28%). CONCLUSIONS: These results define the profile of patients with osteoporosis who attend internal medicine consultations in Spain. The results also show the multisystemic character of this condition, which, along with its high prevalence, determine that the specific internal medicine consultations dedicated to managing the condition are the appropriate place for caring for these patients.

Multidisciplinary expert consensus on secondary fracture prevention in Spain.

The study aimed to achieve expert consensus to optimize secondary fracture prevention in Spain. Relevant gaps in current patient management were identified. However, some aspects were considered difficult to apply. Future efforts should focus on those items with greatest divergences between importance and feasibility. PURPOSE: To establish a Spanish multidisciplinary expert consensus on secondary fracture prevention. METHODS: A two-round Delphi consensus was conducted, guided by a Scientific Committee. The 43-item study questionnaire was designed from a literature review and a subsequent multidisciplinary expert group (n = 12) discussion. The first-round questionnaire, using a 7-point Likert scale, assessed the experts' opinion of the current situation, their wish for items to happen, and their prognosis that items would be implemented within 5 years. Items for which consensus was not achieved were included in the second round. Consensus was defined as ≥ 75% agreement or ≥ 75% disagreement. A total of 102 experts from 14 scientific societies were invited to participate. RESULTS: A total of 75 (response rate 73.5%) and 69 (92.0%) experts answered the first and second Delphi rounds, respectively. Participants mean age was 51.8 years [standard deviation (SD): 10.1 years]; being 24.0% rheumatologists, 21.3% primary care physicians, 14.7% geriatricians, 8.0% internal medicine specialists, 8.0% rehabilitation physicians, and 8.0% gynecologists. Consensus was achieved for 79.1% of items (wish, 100%; prognosis, 58.1%). Effective secondary prevention strategies identified as requiring improvement included: clinical report standardization, effective hospital primary care communication (telephone/mail and case managers), health-related quality of life (HRQoL) questionnaires use, and treatment compliance monitoring (prognosis agreement 33.3%, 47.8%, 18.8%, and 55.1%, respectively). CONCLUSION: A consensus was reached by health professionals in their wish to implement strategies to optimize secondary fracture prevention; however, they considered some difficult to apply. Efforts should focus on those items with currently low application and those with greatest divergence between wish and prognosis.

Perfil de los pacientes que acuden al médico internista para valoración de osteoporosis: registro OSTEOMED / Profile of patients who visit medical internists for an osteoporosis assessment: The OSTEOMED registry

Antecedentes y objetivo La osteoporosis se considera un trastorno generalizado del esqueleto en el que existe una alteración de la resistencia ósea que predispone a la persona a un mayor riesgo de fractura. Este estudio transversal pretende recoger y presentar las principales características clínicas de los pacientes que acuden a la consulta de los médicos internistas en España. Conocer estas características podría facilitar la puesta en marcha de planes de actuación para mejorar la atención de estos pacientes de manera más eficaz y eficiente. Material y métodos A través del análisis del registro OSTEOMED (Osteoporosis en Medicina Interna), este trabajo presenta las principales características clínicas de los pacientes con osteoporosis que acudieron a las consultas de Medicina Interna en 23 centros hospitalarios españoles entre 2012 y 2017. Se han analizado los motivos de consulta, los valores densitométricos, la presencia de comorbilidades, el tratamiento prescrito y otros factores relacionados con el estilo de vida. Resultados En total se evaluó a 2.024 pacientes con osteoporosis (89,87% mujeres, 10,13% hombres). La edad media de los pacientes fue de 64,1 ±12,1 años (mujeres, 64,7 ±11,5 años; hombres, 61,2 ±14,2 años). No hubo diferencia entre sexos en la historia de caídas recientes (9,1-6,7%), mientras que sí se apreció en la ingesta diaria de calcio de lácteos (553,8 ±332,6mg en mujeres vs. 450,2 ±303,3mg en hombres; p <0,001) y en causas secundarias de osteoporosis (13% de hombres vs. 6,5% de mujeres; p <0,001). En la muestra se observaron un total de 404 fracturas (20%) (AU)

Background and objectives Osteoporosis is considered a generalised skeletal disorder in which there is impaired bone resistance, which predisposes the individual to a greater risk of fracture. The aim of this cross-sectional study was to collect and present data on the main clinical characteristics of patients who consult medical internists in Spain. Understanding these characteristics can help in implementing action plans to improve these patients’ care more effectively and efficiently. Material and methods Through an analysis of the Osteoporosis in Internal Medicine (OSTEOMED) registry, this study presents the main clinical characteristics of patients with osteoporosis who attended internal medicine consultations in 23 Spanish hospital centres between 2012 and 2017. We analysed the reasons for the consultations, the densitometric values, the presence of comorbidities, the prescribed treatment and other lifestyle-related factors. Results In total, 2024 patients with osteoporosis were assessed (89.87% women, 10.13% men). The patients’ mean age was 64.1±12.1 years (women, 64.7±11.5 years; men, 61.2±14.2 years). There was no significant difference between the sexes in their history of recent falls (9.1% and 6.7%); however, there were significant differences in the daily intake of calcium from milk products (553.8±332.6mg for women vs. 450.2±303.3mg for men; P<.001) and in the secondary causes of osteoporosis (13% of men vs. 6.5% of women; P<.001). In the sample, there were 404 fractures (20%), with a notable number of confirmed vertebral fractures (17.2%, 35.6% in men vs. 15.2% in women; P<.001) (AU)

Profile of patients who visit medical internists for an osteoporosis assessment: The OSTEOMED registry. / Perfil de los pacientes que acuden al médico internista para valoración de osteoporosis: registro OSTEOMED.

BACKGROUND AND OBJECTIVES: Osteoporosis is considered a generalised skeletal disorder in which there is impaired bone resistance, which predisposes the individual to a greater risk of fracture. The aim of this cross-sectional study was to collect and present data on the main clinical characteristics of patients who consult medical internists in Spain. Understanding these characteristics can help in implementing action plans to improve these patients' care more effectively and efficiently. MATERIAL AND METHODS: Through an analysis of the Osteoporosis in Internal Medicine (OSTEOMED) registry, this study presents the main clinical characteristics of patients with osteoporosis who attended internal medicine consultations in 23 Spanish hospital centres between 2012 and 2017. We analysed the reasons for the consultations, the densitometric values, the presence of comorbidities, the prescribed treatment and other lifestyle-related factors. RESULTS: In total, 2024 patients with osteoporosis were assessed (89.87% women, 10.13% men). The patients' mean age was 64.1±12.1 years (women, 64.7±11.5 years; men, 61.2±14.2 years). There was no significant difference between the sexes in their history of recent falls (9.1% and 6.7%); however, there were significant differences in the daily intake of calcium from milk products (553.8±332.6mg for women vs. 450.2±303.3mg for men; P<.001) and in the secondary causes of osteoporosis (13% of men vs. 6.5% of women; P<.001). In the sample, there were 404 fractures (20%), with a notable number of confirmed vertebral fractures (17.2%, 35.6% in men vs. 15.2% in women; P<.001). A large portion of the patients did not undergo the indicated treatment and presented low levels of physical activity and sun exposure. A significant percentage of the patients presented associated comorbidities, the most common of which were hypertension (32%) and dyslipidaemia (28%). CONCLUSIONS: These results define the profile of patients with osteoporosis who attend internal medicine consultations in Spain. The results also show the multisystemic character of this condition, which, along with its high prevalence, determine that the specific internal medicine consultations dedicated to managing the condition are the appropriate place for caring for these patients.

Diferencias práxicas según subtipos de deterioro cognitivo en un grupo de pacientes con enfermedad de Parkinson avanzada / Praxis differences according to subtypes of cognitive impairment in a group of patients with advanced Parkinson's disease / Diferenças práxicas segundo subtipos de deterioro cognitivo em um grupo de pacientes com Mal de Parkinson avançado

Objetivo: se habla de enfermedad de Parkinson (EP) avanzada cuando la terapia convencional no proporciona control motor. Las alteraciones práxicas se han descrito en estos pacientes, como parte del deterioro cognitivo leve (DCL) desde etapas tempranas. El objetivo de este trabajo es determinar la diferencia entre las alteraciones práxicas y el subtipo de DCL en un grupo de pacientes con EP avanzada. Metodología: diseño observacional-analítico trasversal en pacientes con EP vistos en consulta para evaluación neuropsicológica en el año 2014. Se compararon las categorías diagnósticas según el predominio apráxico y se exploró si existía una relación entre alteraciones práxicas y predominio cortical posterior vs. frontosubcortical. Se categorizaron tres grupos: grupo 1) DCL monodominio no amnésico-predominio ejecutivo, grupo 2) DCL multidominio de predominio apráxico y ejecutivo y grupo 3) DCL multidominio ­con más de dos dominios cognitivos alterados­. Resultados: hubo mayor predominio de apraxias corporales y visuoconstruccionales en los grupos 2 y 3. Los hallazgos demuestran diferencias al comparar habilidades práxicas entre subgrupos (p<0.05), como también, un patrón de disminución gradual de rendimiento en pruebas según subtipo de DCL. No se encontró relación entre los grupos para los predominios corticales posteriores y frontosubcorticales en las praxias corporales. En el grupo 3 hubo niveles más altos de afectación cortical posterior que en el grupo 2, para praxias ideomotoras (derechas e izquierdas) e ideacionales. Hubo relación entre la presencia de apraxias visuocontruccionales y disfunción frontosubcortical (p<0.01) en los tres grupos. Conclusiones: los participantes con EP avanzada podrían presentar alteraciones práxicas que no son propias de un cuadro demencial, corroboramos que es posible la aparición apraxia en pacientes con DCL sin demencia, por lesiones leves de la corteza parietal que no explican pérdida funcional mayor.

Objective: We talk about advanced Parkinson's disease (PD) when conventional therapy does not provide motor control. Praxis alterations have been described in these patients as part of mild cognitive impairment (MCI) from early stages. The objective of this work is to determine the difference between praxis alterations and the subtype of DCL in a group of patients with advanced PD. Methodology: cross-sectional observational-analytical design in patients with PD examined in consultation for neuropsychological evaluation in 2014. The diagnostic categories were compared according to the apraxic predominance. In addition, we explored if there was a relationship between praxis alterations and posterior cortical vs. frontosubcortical predominance. Three groups were categorized: group 1) Non-amnestic-executive monodomain DCL, group 2) Apraxic and executive dominance multi-domain DCL, and group 3) Multi-domain DCL ­with more than two altered cognitive domains­. Results: there was a greater predominance of body and visuoconstructional apraxies in groups 2 and 3. The findings show differences when comparing praxical abilities between subgroups (p <0.05), as well as a pattern of gradual performance decrease in tests according to subtype of DCL. No relationship was found between the groups for posterior cortical and frontosubcortical predominance in body praxias. There were higher levels of posterior cortical involvement in group 3 than in group 2, for ideomotor praxias (right and left) and ideational praxias. There was a relationship between the presence of visuocontructional apraxias and frontosubcortical dysfunction (p <0.01) in the three groups. Conclusions: Participants with advanced PD could present praxis alterations that are not characteristic of dementia. We confirm that apraxia is possible in patients with MCI without dementia, due to minor lesions of the parietal cortex that do not explain major functional loss.

Objetivo: se fala de Mal de Parkinson (MP) avançado quando a terapia convencional não proporciona controle motor. As alterações práxicas se há descrito nestes pacientes, como parte do deterioro cognitivo leve (DCL) desde etapas precoces. O objetivo deste trabalho é determinar a diferença entre as alterações práxicas e o subtipo de DCL em um grupo de pacientes com MP avançado. Metodologia: desenho observacional-analítico transversal em pacientes com MP vistos em consulta para avaliação neuropsicológica no ano de 2014. Se compararam as categorias diagnósticas segundo o predomínio apráxico e se explorou si existia uma relação entre alterações práxicas e predomínio cortical posterior vs. frontosubcortical. Se categorizaram três grupos: grupo 1) DCL monodomínio não amnésico-predomínio executivo, grupo 2) DCL multidomínio de predomínio apráxico e executivo e grupo 3) DCL multidomínio ­com mais de dois domínios cognitivos alterados­. Resultados: houve maior predomínio de apraxias corporais e visuoconstruccionais nos grupos 2 e 3. As descobertas demostram diferenças ao comparar habilidades práxicas entre subgrupos (p<0.05), como também, um padrão de diminuição gradual de rendimento em provas segundo subtipo de DCL. Não se encontrou relação entre os grupos para os predomínios corticais posteriores e frontosubcorticais nas praxias corporais. No grupo 3 houve níveis mais altos de afetação cortical posterior que no grupo 2, para praxias ideomotoras (direitas e esquerdas) e ideacionais. Houve relação entre a presença de apraxias visuocontruccionais e disfunção frontosubcortical (p<0.01) nos três grupos. Conclusões: os participantes com MP avançado poderiam apresentar alterações práxicas que não são próprias de um quadro demencial, corroboramos que é possível o aparecimento apraxia em pacientes com DCL sem demência, por lesões leves da córtex parietal que não explicam perda funcional maior.

International experiences in multicriteria decision analysis (MCDA) for evaluating orphan drugs: a scoping review.

Introduction: Orphan diseases are low-prevalence conditions with chronically debilitating or life-threatening consequences. Their treatments are generally called orphan drugs (OD). Health-technology assessment processes have traditionally considered cost-effectiveness analysis (CEA), when making reimbursement and pricing decisions for health-care plans. Valuing OD with standard CEA raises important issues due to uncertain evidence, inability to meet cost-effectiveness thresholds for reimbursement and high budget impact, among others. Multi-criteria decision analysis (MCDA) allows to overcome these issues and improve the technical and ethical quality of decisions regarding prioritization, coverage, and reimbursement of OD. Areas covered: A scoping review was conducted in order to characterize MCDA frameworks for assessing OD and implementation experiences. We reviewed electronic databases (Medline, Embase, Cochrane Library, EBSCO, CINAHL, EconLit, Web of Science, LILACS, Google Scholar) key journals (Orphanet Journal of Rare Diseases and Value in Health) and organization repositories. Expert opinion: The theoretical framework for MCDA considers areas related to characteristics of orphan diseases and their technologies' clinical and economic impact. Participation processes are critical in incorporating societal values in weighting different dimensions and constructing decision rules. Local implementation pilots considering different stakeholders are necessary in order to pinpoint specific barriers and opportunities.

Parathyroid Hormone Polymorphism RS6254 is Associated with the Development and Severity of Osteoporosis in Asymptomatic but not Normocalcemic Hyperthyroidism.

Although normocalcemic and asymptomatic hyperparathyroidism (HPT) are becoming more common, they remain only partially understood. Parathyroid hormone (PTH) polymorphisms have been associated with disease severity in classical HPT. The aim of the present study was to evaluate the clinical effect of PTH polymorphism (rs6254) in normocalcemic and asymptomatic HPT. A prospective study of 61 consecutive patients with normocalcemic or asymptomatic HPT was carried out. Secondary causes of HPT were ruled out. All patients were followed for≥1 year. Calcium and phosphorus metabolism parameters were assessed at least twice during the follow-up period to classify as normocalcemic or asymptomatic HPT. Bone mineral density (BMD) and the rs6254 polymorphism genotype were also assessed. Genotype rs6254GG was observed in 23 patients (37.7%) whereas GA and AA genotypes were presented in 29 (47.5%) and 9 (14.8%) patients, respectively. Age, sex and genotype distributions were comparable in both groups. In asymptomatic but not normocalcemic HPT patients, the GG genotype was associated with a significantly higher level of intact PTH [200.2 (SD 76.5) vs. 113.3 (SD 25.9) pg/ml; p<0.01], and significantly lower Z-score densitometry at the femoral neck, proximal femur, and lumbar spine. Both remained significant after adjusting for major confounding factors by multiple linear regression. The present study supports the independent pathogenic effect of rs6254GA polymorphism on the development and severity of BMD complications in patients with asymptomatic but not normocalcemic HPT. Further studies are needed to confirm this finding and to assess the effect of other polymorphisms in normocalcemic and asymptomatic HPT.

Clinical Expression of Calcium Sensing Receptor Polymorphism (A986S) in Normocalcemic and Asymptomatic Hyperparathyroidism.

Normocalcemic and asymptomatic hyperparathyroidism diagnosis are becoming more common. However, their pathophysiology is incompletely known. The aim of the present study was to evaluate the clinical effect of calcium-sensing receptor polymorphism (A986S) in normocalcemic and asymtomatic HPT. Prospective study conducted with 61 consecutive normocalcemic and asymptomatic HPT patients was followed up during a minimum period of 1 year. Secondary causes of hyperparathyroidism were ruled out. Calcium and phosphorus metabolism parameters were evaluated in at least 2 determinations during follow-up to classify as normocalcemic or asymptomatic hyperparathyroidism. Bone mineral density and A986S polymorphism genotype were also analyzed. Thiry-eight patients (62.3%) had the genotype A986A, and 23 (36.7%) patients had A986S (20 patients, 32.8%) or S986S (3 patients, 4.9%). Age, sex, and genotype distributions were comparable in both normocalcemic and asymptomatic hyperparathyroidism. In normocalcemic patients, S allele genotype was associated to statistically significant higher level of intact PTH: 92.0 (SD 18.5) vs. 110.6 (SD 24.4) pg/ml, p<0.05; and remained significant after adjustment by multiple linear regression. In asymptomatic hyperparathyroidism, A986A genotype resulted in a statistically significant higher level of intact PTH, alkaline phosphatase and procollagen amino-terminal propeptide; but only serum calcium remained as an independent predictor of serum intact PTH levels after a multiple linear regression. Bone mineral densitometry between genotypes did not show statistically significant differences. A986S polymorphism of CaSR is an independent predictor of PTH level in normocalcemic hyperparathyroidism patients, but not in asymptomatic hyperparathyroidism. More studies are needed to evaluate the effect of other polymorphisms in normocalcemic and asymptomatic hyperparathyroidism.

Descripción genotípica y fenotípica de la enfermedad de Alzheimer tardía y familiar precoz: revisión / Genotypic and phenotypic description of late-onset Alzheimer's disease and early onset familial Alzheimer's: Review / Descrição genotípica e fenotípica da doença de Alzheimer tardia e familiar precoce: revisão

La demencia es la pérdida de varias áreas del funcionamiento cognitivo respecto al nivel premórbido, con deterioro significativo en la funcionalidad. La más común es ocasionada por la enfermedad de Alzheimer, que se define como un trastorno neurodegenerativo que produce una alteración progresiva de la memoria y de otras habilidades mentales, por una pérdida de volumen en los lóbulos temporales, en especial en las áreas mediales como el hipocampo y la corteza entorrinal. Menos del 5% de los pacientes con esta enfermedad presenta formas hereditarias que pueden tener un inicio precoz (antes de los 65 años) o tardío (después de dicha edad). La EA precoz presenta un patrón de herencia autosómico dominante y puede ser causado por mutaciones en el gen de la proteína precursora de amiloide, en presenilina-1 o presenilina-2. Los casos de EA tardía, están influenciados por una genética compleja, con múltiples factores de susceptibilidad y el alelo ApoE4 es el principal y más reconocido. La EA es una enfermedad heterogénea tanto en su genotipo como en su fenotipo que varían en cuanto a intensidad y tipo de síntomas, edad de inicio y severidad de la demencia, de acuerdo con las mutaciones que el paciente presenta y su interacción con factores ambientales.

Dementia is known as the loss of multiple areas of cognitive function with respect to a premorbid condition, involving a significant deterioration in functionality. The most common subtype is Alzheimer's disease, which is defined as a neurodegenerative disorder that causes a progressive deterioration in memory and other mental capacities due to volume loss in temporal lobes, especially in mesial aspects, such as the hippocampus and the entorhinal cortex. Approximately 5% of patients affected by this disease have a hereditary form, with an early onset (before 65 years) or a late onset (after 65 years). Early onset Alzheimer's disease has a genetic autosomal dominant inheritance pattern, which can be caused by mutations in the gene encoding for the amyloid precursor protein, presenilin-1, or presenilin-2. In the cases of late onset Alzheimer's disease, there is a complex genetic influence, with multiple susceptibility factors, where the ApoE4 allele is the main and most recognized factor. Alzheimer's disease is a heterogeneous dementia, both in genotype and phenotype, varying in intensity and symptoms, age of onset, and severity of the disease, depending on the different mutations that a patient may have and the interactions with environmental factors.

A demência é a perda de várias áreas do funcionamento cognitivo com respeito ao nível pré-mórbido, com deterioro significativo na funcionalidade. A mais comum é ocasionada pela doença de Alzheimer, que se define como um transtorno neurodegenerativo que produz uma alteração progressiva da memória e de outras habilidades mentais, por uma perda de volume nos lóbulos temporais, em especial nas áreas mediais como o hipocampo e o córtex entorrinal. Menos de 5% dos pacientes com esta doença apresenta formas hereditárias que podem ter um início precoce (antes dos 65 anos) ou tardio (depois de dita idade). A D.A. precoce apresenta um padrão de herança autossômico dominante e pode ser causado por mutações no gene da proteína precursora de amiloide, em presenilina-1 ou presenilina-2. Os casos de D.A. tardia, estão influenciados por uma genética complexa, com múltiplos fatores de susceptibilidade e o alelo ApoE4 é o principal e mais reconhecido. A D.A. é uma doença heterogénea tanto em seu genótipo como em seu fenótipo que variam em quanto a intensidade e tipo de sintomas, idade de inicio e severidade da demência, de acordo com as mutações que o paciente apresenta e sua interação com fatores ambientais.

Response of osteocalcin and insulin resistance after a hypocaloric diet in obese patients.

OBJECTIVE: Osteocalcin is a hormone with a complex cross-talk between adipose tissue and the skeleton. The aim of the present study was to explore the change of osteocalcin, insulin resistance, and adipocytokines after hypocaloric diet in obese patients. PATIENTS AND METHODS: A population of 178 obese patients was analyzed. At basal time and 2 months after the dietary intervention, weight, fat mass, body mass index, basal glucose, insulin, insulin resistance (HOMA), total cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides, leptin, adiponectin, IL-6, TNF alpha and osteocalcin levels were measured. RESULTS: After dietary treatment, BMI, weight, fat mass, waist circumference, waist to hip ratio, systolic pressure, glucose, HOMA, triglycerides, total cholesterol, leptin and LDL cholesterol decreased significantly. Osteocalcin levels have a significant decrease after weight loss (Osteocalcin (ng/ml); 9.76 ± 5.3 vs 9.31 ± 4.1: p < 0.05). In correlation analysis, a negative association was detected among osteocalcin and age, BMI, fat mass, glucose, C reactive protein, interleukin-6. In the linear regression with age-, sex-, BMI, fat mass- and insulin- adjusted, only C reactive protein concentrations are related with osteocalcin levels -0.21 (CI 95%: -0.40 -0.009). CONCLUSIONS: Osteocalcin decreased after a weight loss treatment. Moreover, osteocalcin levels, before and after treatment, were related in a negative way with CRP fat mass, body mass index, age and glucose levels.