Inflammatory agents partially explain associations between cortical thickness, surface area, and body mass in adolescents and young adulthood.

BACKGROUND/OBJECTIVES: Excessive body mass index (BMI) has been linked to a low-grade chronic inflammation state. Unhealthy BMI has also been related to neuroanatomical changes in adults. Research in adolescents is relatively limited and has produced conflicting results. This study aims to address the relationship between BMI and adolescents' brain structure as well as to test the role that inflammatory adipose-related agents might have over this putative link. METHODS: We studied structural MRI and serum levels of interleukin-6, tumor necrosis factor alpha (TNF-α), C-reactive protein and fibrinogen in 65 adolescents (aged 12-21 years). Relationships between BMI, cortical thickness and surface area were tested with a vertex-wise analysis. Subsequently, we used backward multiple linear regression models to explore the influence of inflammatory parameters in each brain-altered area. RESULTS: We found a negative association between cortical thickness and BMI in the left lateral occipital cortex (LOC) and the right precentral gyrus as well as a positive relationship between surface area and BMI in the left rostral middle frontal gyrus and the right superior frontal gyrus. In addition, we found that higher fibrinogen serum concentrations were related to thinning within the left LOC (ß = -0.45, p < 0.001), while higher serum levels of TNF-α were associated to a greater surface area in the right superior frontal gyrus (ß = 0.32, p = 0.045). Besides, we have also identified a trend that negatively correlates the cortical thickness of the left fusiform gyrus with the increases in BMI. It was also associated to fibrinogen (ß = -0.33, p = 0.035). CONCLUSIONS: These results suggest that adolescents' body mass increases are related with brain abnormalities in areas that could play a relevant role in some aspects of feeding behavior. Likewise, we have evidenced that these cortical changes were partially explained by inflammatory agents such as fibrinogen and TNF-α.

Affected connectivity organization of the reward system structure in obesity.

With the prevalence of obesity rapidly increasing worldwide, understanding the processes leading to excessive eating behavior becomes increasingly important. Considering the widely recognized crucial role of reward processes in food intake, we examined the white matter wiring and integrity of the anatomical reward network in obesity. Anatomical wiring of the reward network was reconstructed derived from diffusion weighted imaging in 31 obese participants and 32 normal-weight participants. Network wiring was compared in terms of the white matter volume as well as in terms of white matter microstructure, revealing lower number of streamlines and lower fiber integrity within the reward network in obese subjects. Specifically, the orbitofrontal cortex and striatum nuclei including accumbens, caudate and putamen showed lower strength and network clustering in the obesity group as compared to healthy controls. Our results provide evidence for obesity-related disruptions of global and local anatomical connectivity of the reward circuitry in regions that are key in the reinforcing mechanisms of eating-behavior processes.

La dispensación como punto clave en la detección de necesidades farmacoterapeuticas de los pacientes / Dispensing medicines as a key point in the detection of patinent’s pharmacotherapeutic needs

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La relación farmacéutico-paciente como punto clave en la detección de patologías subestimadas / Pharmacist-patient relationship as key point in the identification of underestimated pathologies

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Experiencias negativas previas a un tratamiento farmacológico pueden influir en la adherencia terapéutica / A negative experience related to a drug and its influence on the therapeutic adherence

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El derecho del paciente a decidir sobre su tratamiento: caso clínico de optimización de la farmacoterapia / The patient's right to decide on their treatment: a clinical report of medicines optimisation

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Punto de partida de los farmacéuticos de la provincia de Alicante en la carrera profesional en farmacia comunitaria según la propuesta de la SEFAC / Starting point of pharmacists of the province of Alicante in the professional accreditation in community pharmacy according to the proposal for SEFAC

Objetivo: Valorar la experiencia, los conocimientos y las habilidades de los farmacéuticos de la provincia de Alicante para conocer el punto de partida de cara a una futura implantación del modelo de carrera profesional propuesto por la Sociedad Española de Farmacia Comunitaria (SEFAC). Métodos: Se ha realizado un estudio descriptivo de la información obtenida de currículum vítae (CV) válidos, durante los meses de abril a septiembre del año 2011. Para el estudio se ha elaborado un cuestionario en la plataforma on line GOOGLE DOCS, con el fin de recoger de manera sencilla las puntuaciones de los farmacéuticos al valorar sus CV según el baremo propuesto por la SEFAC. El enlace del cuestionario para la recogida de datos se mandó por correo electrónico desde el Colegio Oficial de Farmacéuticos de Alicante, en 2 veces separadas en el tiempo, y así se pudo disponer de su base de datos y llegar a todos los colegiados de la provincia. También se han enviado más de 200 correos personalizados. Resultados: De 2.081 colegiados (en la fecha de la encuesta), ejercen en oficina de farmacia (OF) 1.563; se han recogido 64 CV válidos (un 3,75% del total y un 4,09% entre ejercientes en OF), lo que puede indicar el bajo interés por la propuesta. Un 90,60% de los participantes tiene el nivel 1 (n= 58), un 6,25% el nivel 2 (n= 4), un 1,57% el nivel 3 (n= 1) y un 1,57% el nivel 4 (n= 1). Conclusiones: El nivel de partida es bajo: 9 de cada 10 participantes tienen el nivel básico. Todos los que superan el nivel 1 son titulares. Las mayores carencias en cuanto a méritos se observan en el apartado de investigación; al no superar los mínimos, muchos participantes con una buena puntuación global no pueden pasar a un nivel superior. Llama la atención la baja participación de los farmacéuticos ante la propuesta de cambio hacia un modelo que refuerza el papel asistencial del farmacéutico comunitario, lo que podría ser consecuencia de la falta de reconocimiento de la labor del farmacéutico por parte de las instituciones sanitarias, así como de la formación académica adquirida en las universidades(AU)

Objective: Assess the experience, knowledge, skills and roles of pharmacists of the province of Alicante, to know the point of departure in the face of a future introduction of the professional accreditation proposed by Sociedad Española de Farmacia Comunitaria (SEFAC). Methods: A descriptive study of information from the collection of valid resumes was conducted during the months of April to September. From the study a questionnaire has been prepared on the platform on line GOOGLE DOCS in order to pick up simple scores by pharmacists to evaluate their curricula vitae according the scale corresponding to the proposal of SEFAC. To obtain the data which had been sent by email the link of the questionnaire all pharmacists of the province, from the database of the official college of pharmacists. Results: Of 2,081 members (the date of the survey) exercised in 1,563 pharmacy office (FO); 64 valid vitae resumes have been collected (3.75% of the total and 4.09% from practicing in FO) which may indicate a low interest in the proposal. The 90.60% of participants have level 1 (n= 58), 6.25% level 2 (n= 4), 1.57% level 3 (n= 1) and 1.57% level 4 (n= 1). Conclusions: The starting level is low, 9 out of 10 are the basic level. All who pass level 1 are pharmacist owner. Major deficiencies with regard to merit, can be seen in the research section, not to exceed the minimum, many participants with a good overall score cannot be passed to a higher level. Attract the attention the low answering and participation of pharmacists, with respect to the proposed of change to a new model of care, that strengthens community pharmacists in new profesional activities. It could be, for the lack of recognition for pharmacist’s work by government health institutions as well as academic training acquired in Spanish universities(AU)

Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR / Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes

Introducción: La craneosinostosis consiste en una fusión patológica precoz de una o varias suturas craneales. El 20% de los casos corresponde a formas sindrómicas con patrones hereditarios mendelianos, mientras que el 80% restante a formas no sindrómicas, pero con transmisión hereditaria en el 10-14% de los casos. A propósito de 2 pacientes con síndrome de Crouzon, se revisan los aspectos clínicos y genéticos. Pacientes y métodos: Paciente 1: niña de 35 días con macrocefalia progresiva, abombamiento de la fontanela, proptosis ocular, hipertelorismo y estrabismo divergente. Rx de cráneo con sinostosis de la sutura sagital. Fue intervenida quirúrgicamente a los 3 y 8 meses por desarrollo de pansinostosis. Paciente 2: niño de 3 años 8 meses con cefaleas de tipo migrañoso de un año de evolución. Presentaba acantosis nigricans. Rx de cráneo y TC craneal con impresiones digitales y fondo de ojo con discreto borramiento papilar. Tras 18 meses apareció edema de papila y en la TC craneal se detectó pansinostosis, requiriendo intervención quirúrgica. Resultados: Hemos presentado un paciente con síndrome de Crouzon clásico (paciente 1) y otro con acantosis nigricans (paciente 2), diagnosticándose por su particular fenotipo clínico. Conclusiones: Dada la amplia diversidad de formas alélicas en los genes FGFR que cursan con craneosinostosis, conociéndose hasta 10 entidades, realizamos una revisión de las mismas. En las formas sindrómicas, como nuestros 2 casos, conviene detallar al máximo los signos clínicos pues pueden orientar el diagnóstico, y el estudio molecular permitirá en ocasiones confirmarlo y ofrecer asesoramiento genético a las familias(AU)

Introduction: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. Patients and methods: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. Results: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. Conclusions: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered(AU)

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes]. / Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR.

INTRODUCTION: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. PATIENTS AND METHODS: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. RESULTS: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. CONCLUSIONS: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered.

Italian guidelines for molecular analysis in myotonic dystrophies.

Myotonic dystrophies, the most common form of adult muscular dystrophy, comprise at least two forms, clinically and genetically heterogeneous. Myotonic dystrophy type 1 and type 2 are both caused by unstable repetitions in untranslated gene regions: a [CTG]n expansion in the 3' region of the DMPK gene on chromosome 19q13 (DM1) and [CCTG]n tetranucleotide repeat located in the first intron of the ZNF9 gene on chromosome 3q21 (DM2). DM clinical features are caused by a gain of functions RNA mechanism in which the CUG and CCUG repeats alter nuclear functions, including alternative splicing of shared genes. Southern blot and/or polymerase chain reaction PCR-based approaches allow the detection of DM mutations in almost 100% of cases, however, the expansion size and the elevated grade of somatic instability make molecular testing for DM a diagnostic challenge. The increased use of DNA testing for DM generates many questions regarding the indications and interpretations of the test which require standardized methods, routinely available in molecular genetic laboratories. Here, we propose Guidelines for the molecular diagnosis of DM1 and DM2 approved by the Italian Ministry of Health in 2005 (Piano Nazionale Linee Guida, PNLG). Best practice for DM molecular analysis in diagnostic application, presymptomatic and prenatal testing, using direct and indirect approaches are described, with particular attention focused on ethical, legal and social issues. Overviews of materials used in the molecular diagnosis, as well as internet resources, are also included.

Cistoadenoma gigante de páncreas. Una entidad poco frecuente / Giant pancreatic cystadenoma. A very rare entity

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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms (ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C-->T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and RP1 genes were also identified. Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations. As causative mutations were not found in over 70% of the families analysed, this study suggests the presence of further novel genes or sequence elements involved in the pathogenesis of ADRP.

[Ovarian granulosa cell tumors: an unusual cause of precocious thelarche]. / Tumor ovárico de la granulosa: causa infrecuente de telarquia prematura.

Precocious thelarche usually results from a physiological process but can sometimes be the first sign of precocious pseudopuberty. Ovarian granulosa cell tumors are highly unusual in childhood, appearing as precocious puberty in most prepuberal patients. During adolescence these tumors may cause menstrual irregularities, virilization and abdominal pain. Their malignancy is low and surgical treatment is usually curative if the tumors are limited to the ovaries. More advanced stages require chemotherapy, are difficult to cure and produce high mortality. We present the case of a 16-month-old girl with a granulosa cell tumor who presented with progressive precocious thelarche over 1 month that was satisfactorily resolved after resective surgery. This case demonstrates that other causes of puberal development should be investigated when precocious thelarche with fast progression is observed, with special attention paid to tumoral disease in the differential diagnosis.

Tumor ovárico de la granulosa: causa infrecuente de telarquia prematura / Ovarian granulosa celltumors: an unusual cause of precociousthelarche

La telarquia prematura habitualmente corresponde a un proceso fisiológico, aunque en ocasiones excepcionales puede ser el primer signo de una pubertad precoz. Los tumores de células de la granulosa del ovario son muy infrecuentes en la infancia, provocando una seudopubertad precoz en la mayoría de los pacientes prepuberales. Durante la adolescencia puede causar irregularidades menstruales, virilización y dolor abdominal. Son tumores de bajo grado de malignidad y el tratamiento quirúrgico suele resultar curativo si están limitados al ovario. Estadios más avanzados precisan poliquimioterapia, son difíciles de curar y presentan elevada mortalidad. Se presenta el caso de una niña de 16 meses con un tumor de células de la granulosa que se manifestó con telarquia prematura progresiva de un mes de evolución y que se resolvió de forma favorable tras la cirugía resectiva. Este caso indica que ante una telarquia prematura rápidamente evolutiva se deben buscar otros signos de desarrollo puberal, recordando los procesos tumorales dentro del diagnóstico diferencial (AU)

Dysplasia ectodérmica hipohidrótica: causa inusual de fiebre de origen desconocido / No disponible

La displasia ectodérmica hipohidrótica (DEH) es una patología que debe considerarse dentro del diagnóstico diferencial de los procesos febriles en la infancia, sobre todo sin son recurrentes o de origen desconocido. Se presenta un nuevo caso de DEH en un lactante varón de 13 meses con cuadro febriles de repetición sin foco y con el fenotipo característico, consistente en un pelo ralo y escaso, hipodoncia, piel fina y seca y una facies peculiar. El conocimiento de las características clínicas tan específicas de esta entidad nos puede permitir un diagnóstico precoz y relativamente sencillo, minimizando así la iatrogenia asociada a la demora diagnostica (AU)

Hypohidrotic ectodermal displasia (HED( is a pathology that must be considered in the differential diagnosis of childhood´s febril processes, mainly if they are recurrent or of unknown origin. We present here a new case of HED in a 13 months old boy with recurrent fevers without focus, exhibiting a particular phenotype consisting of fine and scarce hair, oligodontia, smooth and dry skin and a particular facies. The knowledge of these particular clinical features allow an early and relative simple diagnosis, minimizing the iatrogenia associated to delays in diagnosis (AU)

Absceso amebiano hepático / Amebic liver abscess

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Enfermedad de Caroli segmentaria / Segmental Caroli's disease

No disponible