Avaluació de les pràctiques clinico-assistencials i professionalitzadores: Mini-CEX. Resultats en dos escenaris diferents (2014)

Podeu consultar la Vuitena trobada de professorat de Ciències de la Salut completa a: http://hdl.handle.net/2445/66524Podeu consultar l'article publicat a FEM: Baños Josep E., Gomar-Sancho Carmen, Grau-Junyent Josep M., Palés-Argullós Jordi, Sentí Mariano. Mini-CEX as assessment tool of clinical skills: a pilot study in medical students. FEM (Ed. impresa) [serial on the Internet]. 2015 Apr [cited 2015 Dec 14] ; 18(2): 155-160. Available from: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S2014-98322015000200012&lng=en. http://dx.doi.org/10.4321/S2014-98322015000200012

The impact of mitochondrial deficiencies in neuromuscular diseases

Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal muscles leading tomuscle weakness and waste. Unfortunately, most of them entail serious or even fatal consequences. The prevalence rates among NMDs range between 1 and 10 per 100,000 population, but their rarity and diversity pose diffculties for healthcare and research. Some molecular hallmarks are being explored to elucidate the mechanisms triggering disease, to set the path for further advances. In fact, in the present review we outline the metabolic alterations of NMDs, mainly focusing on the role of mitochondria. The aim of the review is to discuss the mechanisms underlying energy production, oxidative stress generation, cell signaling, autophagy, and inflammation triggered or conditioned by the mitochondria. Briefly, increased levels of inflammation have been linked to reactive oxygen species (ROS) accumulation, which is key in mitochondrial genomic instability and mitochondrial respiratory chain (MRC) dysfunction. ROS burst, impaired autophagy, and increased inflammation are observed in many NMDs. Increasing knowledge of the etiology of NMDs will help to develop better diagnosis and treatments, eventually reducing the health and economic burden of NMDs for patients and healthcare systems

Clinical skills training in the third course of Medicine. Sequential evaluation of five cycles

Introducción: Existen pocos estudios que de forma selectiva valoren la docencia clínica de una determinada asignatura. En este artículo se presenta la experiencia en docencia clínica de la asignatura 'Semiología General y Propedéutica Clínica' en tercer curso del Grado de Medicina en la Facultad de Medicina de la Universitat de Barcelona. Materiales y métodos: Se han analizado los cursos 2011-2012, 2012-2013 y 2013-2014, representando un total de cinco 'cursos', ya que la asignatura es semestral y se imparte dos veces en cada curso académico. El período de docencia clínica de la asignatura es de siete semanas (28 días) y el número de alumnos oscila entre cuatro y ocho por cada una de las siete unidades/centros distintos. A su llegada se les informa de los objetivos de la estancia clínica y al final del período se les invita a cumplimentar una encuesta anónima y voluntaria en la que valoran distintos ítems. Resultados: Se han recogido 477 encuestas (95%). Se constató una muy buena valoración global del período de docencia clínica (mediana: 5; primer cuartil: 4, en escala de 1 a 5), sin variaciones significativas entre los distintos períodos evaluados (p = 0,658). Conclusiones: La docencia clínica en esta asignatura está muy bien valorada de forma global, sin detectar variaciones relevantes en los cinco cursos analizados

Imported eosinophilic fever with myositis: A diagnostic challenge

A 39-year-old caucasian man presented to our hospital in Barcelona with fever, dry cough, headache and weight loss of 4 kg. Symptoms started 5 days after returning from a 21-day travel to Malaysia. His physical examination was unremarkable except for a splenomegaly. Laboratory tests showed mild elevation of transaminases, elevated levels of lactate dehydrogenase (468 UI/L) and a normal blood cell count. Blood cultures, thick and thin blood smear and serologic tests for dengue, chikungunya, HIV, cytomegalovirus, Epstein-Barr virus, herpes virus 6, parvovirus B19, Toxoplasma spp and Rickettsia conorii were negative

Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report.

McLeod syndrome (MLS) is a very rare genetic X-linked condition due to XK gene mutations and characterized by the development of chorea, psychiatric and cognitive impairment, seizures, cardiomyopathy, muscular involvement and the presence of acanthocytes. We present the case of a patient with very long lasting mild myalgia and elevated creatine kinase (CK) who developed lateonset chorea and was finally diagnosed with MLS

Reingresos hospitalarios en un servicio de Medicina Interna de un hospital de tercer nivel

Objetivo principal: Identificar la tipología de pacientes que reingresan y los factores que intervienen en el reingreso hospitalario no planificado de un Servicio de Medicina Interna de tercer nivel. Metodología: Estudio observacional descriptivo con una muestra de 100 pacien-tes que reingresaron de forma consecutiva y no programada, antes de haber transcurrido 180 días. De cada uno de ellos se estudió variables demográficas, socio-familiares, salud-enfermedad, preocupación al alta anterior, continuidad asistencial y seguimiento terapéutico. Resultados principales: Los reingresos se produjeron en un 65% antes de 1 mes. Un 50% tenía más de 80 años y un 60% eran mujeres. El 40% convivía con personas de igual edad, siendo estas su principal cuidador. El principal motivo de ingreso, de reingreso y de proble-ma en domicilio fue la disnea. El diagnóstico mayoritario fue la infección respiratoria, con una media de comorbilidad de 4 y una media de cuidados al alta anterior de 3. Las personas se sintieron bien informadas al alta. Un 42 % recibió respuesta de su centro de atención primaria antes de las 48 horas y se sintió satisfecho por la atención que recibió. Un 18% de los pacientes no fueron cumplidores. Conclusión principal: los reingresos son más frecuentes en los primeros 30 días. Los mayores de 71 años con problemas respiratorios son los que presentaron mayor riesgo de reingreso

Neuronal induction and bioenergetics characterization of human forearm adipose stem cells from Parkinson's disease patients and healthy controls

Neurodegenerative diseases, such as Parkinson's disease, are heterogeneous disorders with a multifactorial nature involving impaired bioenergetics. Stem-regenerative medicine and bioenergetics have been proposed as promising therapeutic targets in the neurologic field. The rationale of the present study was to assess the potential of human-derived adipose stem cells (hASCs) to transdifferentiate into neuronal-like cells (NhASCs and neurospheres) and explore the hASC bioenergetic profile. hASC neuronal transdifferentiation was performed through neurobasal media and differentiation factor exposure. High resolution respirometry was assessed. Increased MAP-2 neuronal marker protein expression upon neuronal induction (p<0.05 undifferentiated hASCs vs. 28-36 days of differentiation) and increased bIII-tubulin neuronal marker protein expression upon neuronal induction (p<0.05 undifferentiated hASCs vs. 6-28-36 days of differentiation) were found. The bioenergetic profile was detectable through high-resolution respirometry approaches in hASCs but did not lead to differential oxidative capacity rates in healthy or clinically diagnosed PD-hASCs. We confirmed the capability of transdifferentiation to the neuronal-like profile of hASCs derived from the forearms of human subjects and characterized the bioenergetic profile. Suboptimal maximal respiratory capacity trends in PD were found. Neuronal induction leading to positive neuronal protein expression markers is a relevant issue that encourages the suitability of NhASC models in neurodegeneration

First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene

Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines, and slight haemolytic anemia. After ruling out the most common causes of chronic haemolytic anemia, the study of a panel of 24 enzyme activities showed a markedly decreased PFK activity in red blood cells (RBCs) from the patient. DNA sequence analysis of the PFKM gene subsequently revealed a novel homozygous mutation: c.926A>G; p.Asp309Gly. This mutation is predicted to severely affect enzyme catalysis thereby accounting for the observed enzyme deficiency. This case represents a prime example of classical PFK deficiency and is the first reported case of this very rare red blood cell disorder in Spain

Positron emission tomography assessment of large vessel inflammation in patients with newly diagnosed, biopsy-proven giant cell arteritis: a prospective, case-control study

BACKGROUND: Positron emission tomography (PET) scan is emerging as a promising imaging technique to detect large-vessel inflammation in giant cell arteritis (GCA). However, the lack of a standardised definition of arteritis based on (18)fluorodeoxyglucose (FDG) uptake is an important limitation to the use of PET scan for diagnostic purposes. OBJECTIVE: To prospectively assess the intensity and distribution of FDG uptake at different vascular territories in patients with newly diagnosed GCA compared with controls. METHODS: 32 consecutive, biopsy-proven, GCA patients treated with glucocorticoids for ≤3 days were included. The control group consisted of 20 individuals, who underwent PET/CT for cancer staging. Maximal standardised uptake value (SUVm) was calculated at four aortic segments, supraaortic branches and iliac-femoral territory. Sensitivity and specificity was calculated by receiver-operator characteristic curves (ROC) analysis. RESULTS: Mean SUVm was significantly higher in patients than in controls in all vessels explored and correlated with acute-phase reactants and serum IL-6. Mean of the SUVm at all the vascular territories had an area under the curve (AUC) of 0.830, and a cut-off of 1.89 yielded a sensitivity of 80% and a specificity of 79% for GCA diagnosis. There were no significant differences in AUC among the vascular beds examined. CONCLUSIONS: FDG uptake by large vessels has a substantial sensitivity and specificity for GCA diagnosis

Mitochondrial dysfunction: a common hallmark underlying comorbidity between sIBM and other degenerative and age-related diseases

Sporadic inclusion body myositis (sIBM) is an inflammatory myopathy associated, among others, with mitochondrial dysfunction. Similar molecular features are found in Alzheimer's disease (AD) and Type 2 Diabetes Mellitus (T2DM), underlying potential comorbidity. This study aims to evaluate common clinical and molecular hallmarks among sIBM, AD, and T2DM. Comorbidity with AD was assessed in n = 14 sIBM patients by performing neuropsychological and cognitive tests, cranial magnetic resonance imaging, AD cerebrospinal fluid biomarkers (levels of amyloid beta, total tau, and phosphorylated tau at threonine-181), and genetic apolipoprotein E genotyping. In the same sIBM cohort, comorbidity with T2DM was assessed by collecting anthropometric measures and performing an oral glucose tolerance test and insulin determinations. Results were compared to the standard population and other myositis (n = 7 dermatomyositis and n = 7 polymyositis). Mitochondrial contribution into disease was tested by measurement of oxidative/anaerobic and oxidant/antioxidant balances, respiration fluxes, and enzymatic activities in sIBM fibroblasts subjected to different glucose levels. Comorbidity of sIBM with AD was not detected. Clinically, sIBM patients showed signs of misbalanced glucose homeostasis, similar to other myositis. Such misbalance was further confirmed at the molecular level by the metabolic inability of sIBM fibroblasts to adapt to different glucose conditions. Under the standard condition, sIBM fibroblasts showed decreased respiration (0.71 ± 0.08 vs. 1.06 ± 0.04 nmols O2/min; p = 0.024) and increased anaerobic metabolism (5.76 ± 0.52 vs. 3.79 ± 0.35 mM lactate; p = 0.052). Moreover, when glucose conditions were changed, sIBM fibroblasts presented decreased fold change in mitochondrial enzymatic activities (−12.13 ± 21.86 vs. 199.22 ± 62.52 cytochrome c oxidase/citrate synthase ratio; p = 0.017) and increased oxidative stress per mitochondrial activity (203.76 ± 82.77 vs. −69.55 ± 21.00; p = 0.047), underlying scarce metabolic plasticity. These findings do not demonstrate higher prevalence of AD in sIBM patients, but evidences of prediabetogenic conditions were found. Glucose deregulation in myositis suggests the contribution of lifestyle conditions, such as restricted mobility. Additionally, molecular evidences from sIBM fibroblasts confirm that mitochondrial dysfunction may play a role. Monitoring T2DM development and mitochondrial contribution to disease in myositis patients could set a path for novel therapeutic options