Interobserver variability in the histopathological evaluation of melanoma: analysis of 60 case reports.

INTRODUCTION: Since the field of dermatopathology is not an exact science, it is prone to personal subjectivity, which sometimes causes disagreements on the diagnosis and assessment of some histological features. In the case of melanoma, some variables such as regression are associated with low interobserver agreement. On the contrary, other variables such as the measurement of Breslow thickness show high reproducibility. OBJECTIVE: The main objective of our study was to investigate multiple features of 60 consecutive cases of melanoma to establish interobserver reproducibility. METHODS AND MAIN RESULTS: We conducted an observational and descriptive study at Hospital de Manises, Valencia, Spain, IVO Foundation, Valencia, Spain, and Hospital 12 de Octubre, Madrid, Spain. The mean level of agreement of all study variables was moderate (Cohen's kappa coefficient statistic = 0.5). The highest agreement corresponded to polypoid morphology, pigmentation, ulceration, and solar elastosis. On the other hand, the lowest level agreement was reached for the presence of cellular pleomorphism and tumor necrosis. CONCLUSIONS: Our mean level of agreement was moderate, which reflects that some of the measured characteristics such as cellular pleomorphism or the presence of necrosis cannot be used for future studies or must be redefined and their reproducibility, reestablished. When conducting a research study, it is necessary to analyze the study variables to demonstrate their validity to measure or classify a certain feature. It is also advisable to warrant that that the variables are reproducible to be able to use them for other studies or in the routine clinical practice.

Trop-2 is a ubiquitous and promising target in pancreatic adenocarcinoma.

BACKGROUND: Trop-2 is overexpressed in tumor cells of various cancers, including pancreatic ductal adenocarcinoma (PDAC), and has emerged as a potent therapeutic target. We evaluated Trop-2 expression both at the transcriptomic and protein levels, and its correlation with tumor features and patients' outcomes in a large cohort of PDAC. METHODS: We included patients undergoing pancreatic resection for PDAC in 5 academic hospitals in France and Belgium. Transcriptomic profiles were obtained from FFPE tissue samples, with paired primary -25and metastatic lesions when available. Protein expression was evaluated by immunohistochemistry (IHC) using tissue micro-arrays. RESULTS: 495 patients (male 54%, median age 63 years) were included between 1996 and 2012. Trop-2 mRNA expression was significantly associated to tumor cellularity, but no association with survival nor with any clinical or pathological features was observed, with tumor cells showing an overall high expression among every subgroup. Trop-2 mRNA expression was maintained between primary and metastatic lesion in all 26 paired samples evaluated. In 50 tumors assessed by IHC, 30%, 68% and 2% harbored a high, medium, or low Trop-2 expression score, respectively. Trop-2 staining was significantly associated to mRNA expression, but not to survival or any pathological features. CONCLUSIONS: Our results suggest Trop-2 overexpression as a ubiquitous marker of PDAC tumor cells and thus a promising therapeutic target to evaluate in these patients.

Respuesta favorable al tratamiento con alopurinol de reacción granulomatosa a relleno / Foreign-Body Reaction to Dermal Filler: Good Response to Treatment with Allopurinol

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[Randomised controlled study of inter-hemispheric electroencephalographic coherence following assisted therapy with dolphins in children with autism spectrum disorders]. / Estudio aleatorizado controlado de la coherencia interhemisferica del electroencefalograma tras terapia asistida con delfines en niños con trastorno del espectro autista.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with impairments in executive function, language, emotional function, and social function. Its anatomofunctional substrate is related to a disorganization of the brain's functional connections. The aim is to investigate the cerebral connections in subjects with ASD through the analysis of the interhemispheric coherence (IHC) of the quantified electroencephalogram and its changes after dolphin assisted therapy (DAT) versus therapeutical intervention without dolphins (TIWD). PATIENTS AND METHODS: The IHC was determined in 44 subjects with ASD before randomly assigning them to two therapeutic groups: DAT (n = 22) and TIWD (n = 22). The results were statistically analyzed through the multi-measure ANOVA test for within-subject (time) and between-subject (DAT vs TIWD) factors. RESULTS: The IHC showed a significant reduction (p < 0.05) for both groups in the delta, theta, beta, and alpha frequencies (p < 0.001) in the anterior frontal region (F3-F4), alpha in the central region (C3-C4) (p < 0.05), and alpha (p < 0.05) and beta (p < 0.001) in the temporal region (T3-T4). In the intersection with the specific treatment (DAT), the coherence in the alpha band increased in Fp1-Fp2 (p < 0.05), and the delta did not decline in F3-F4 (p < 0.05). CONCLUSION: In 5-year-old children with ASD, DAT increases the IHC in the anterior frontal region and stabilizes the tendency to reduce the delta band in the posterior frontal region.

TITLE: Estudio aleatorizado controlado de la coherencia interhemisferica del electroencefalograma tras terapia asistida con delfines en niños con trastorno del espectro autista.Introduccion. El trastorno del espectro autista (TEA) es un trastorno del neurodesarrollo asociado con trastornos de la funcion ejecutiva, el lenguaje, la funcion emocional y la funcion social, cuyo sustrato anatomofuncional se relaciona con una desorganizacion de las conexiones funcionales cerebrales. El objetivo es investigar las conexiones cerebrales en sujetos con TEA mediante analisis de la coherencia interhemisferica (CIH) del electroencefalograma cuantificado y sus cambios tras la terapia asistida con delfines (TAD) frente a la intervencion terapeutica sin delfines (ITSD). Pacientes y metodos. Se determino la CIH en 44 sujetos con TEA antes de asignarse aleatoriamente a dos grupos de tratamiento: TAD (n = 22) e ITSD (n = 22). Los resultados se analizaron estadisticamente mediante el test de la ANOVA multimedida para los factores intrasujeto (tiempo) e intersujeto (TAD frente a ITSD). Resultados. La CIH mostro una reduccion significativa (p < 0,05) para ambos grupos en las frecuencias delta, theta, beta y alfa (p < 0,001) en la region frontal anterior (F3-F4). Se hallo tambien una reduccion en la frecuencia alfa en la region central (C3-C4) (p < 0,05), y alfa (p < 0,05) y beta (p < 0,001) en la region temporal (T3-T4). En la interseccion con el tratamiento especifico (TAD), la coherencia en la banda alfa aumento en Fp1-Fp2 (p < 0,05) y no descendio la delta en F3-F4 (p < 0,05). Conclusion. En niños de 5 años con TEA, la TAD aumenta la CIH en la region frontal anterior y estabiliza la tendencia a la reduccion de la banda delta en la region frontal posterior.

[Sensory integration: benefits and effectiveness of therapeutic management in sensory processing disorders]. / Integracion sensorial: beneficios y efectividad del abordaje terapeutico en los trastornos del procesamiento sensorial.

Today, the fact that sensory integration difficulties with a neurological basis exist and that they seriously condition the development of those individuals who suffer from them is widely accepted and acknowledged as being obvious by the vast majority of professionals working in the field of community healthcare. However, less is known and there is more controversy about effective treatments that can be applied to them. This is because many professionals criticise the fact that there is not enough scientific evidence to prove, both quantitatively and empirically, the outcomes of the interventions implemented as alternatives to pharmacological therapy. Consequently, when the symptoms and repercussions on the quality of life deriving from a distorted sensory integration are really disabling for the person, pharmacological treatment is used as the only possible approach, with the side effects that this entails. The reason for this is largely the fact that little is known about other effective therapeutic approaches, such as occupational therapy based on sensory integration.

TITLE: Integracion sensorial: beneficios y efectividad del abordaje terapeutico en los trastornos del procesamiento sensorial.En la actualidad, el hecho de que existen dificultades de integracion sensorial de base neurologica y que estas condicionan gravemente el desarrollo de las personas que las sufren, esta aceptado y reconocido como evidente por la gran mayoria de profesionales del campo sociosanitario. No obstante, en cuanto a tratamientos efectivos para abordarlas, hay mas controversia y desconocimiento, ya que existe la critica generalizada de que las intervenciones alternativas a la farmacologica no constan con la suficiente evidencia cientifica que demuestre de forma cuantitativa y empirica los resultados obtenidos a traves de ella. Consecuentemente, cuando los sintomas y repercusion en la calidad de vida derivados de una integracion sensorial distorsionada son realmente limitantes para la persona, se acaba recurriendo al tratamiento farmacologico como unico abordaje posible, con los efectos secundarios que ello conlleva, debido al desconocimiento de enfoques terapeuticos efectivos, como la terapia ocupacional basada en el enfoque de la integracion sensorial.

[Comparison between the diagnosis of attention deficit hyperactivity disorder with the DSM-5 and neuropsychological evaluation of the executive functions]. / Comparacion entre el diagnostico del trastorno por deficit de atencion/hiperactividad con el DSM-5 y la valoracion neuropsicologica de las funciones ejecutivas.

INTRODUCTION: The attention deficit-hyperactivity disorder (ADHD) has a prevalence among 3-7% in scholar population and it is associated with learning disabilities and executive dysfunctions. AIM: To study the relationship between the ADHD diagnostic through DSM-5 criteria and the neuropshychology evaluation of executive functions. SUBJECTS AND METHODS: The sample of this study consisted in 50 subjects, 12 females and 38 males, with an age between 8 and 10 years old. To evaluate the inhibitory control, we used the Stroop Test and the Continuous Performance Test (CPT), to evaluate intelligence and working memory we use the Wechsler Intelligence Scale WISC-IV, to evaluate attention we used the CPT and Selective Attention Test. RESULTS: There weren't significant differences between both subtypes of ADHD regarding working memory, on the other hand the female group had better abilities in cognitive flexibility task than males and subjects diagnosed with combined ADHD had more difficulties in inhibitory control. CONCLUSIONS: We can confirm that the definition of ADHD in DSM-5 isn't enough as them are imprecise. Therefore, the disease definition it's performed by a specific evaluation of attention and inhibitory control mechanisms and its necessary a neuropshychological evaluation of these brain functions.

TITLE: Comparacion entre el diagnostico del trastorno por deficit de atencion/hiperactividad con el DSM-5 y la valoracion neuropsicologica de las funciones ejecutivas.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) tiene una prevalencia del 3-7% de la poblacion en edad escolar y cursa con problemas academicos y disfunciones ejecutivas. Objetivo. Estudiar la relacion entre el diagnostico del TDAH por medio de los criterios del Manual diagnostico y estadistico de los trastornos mentales, quinta edicion (DSM-5), y la evaluacion neuropsicologica de las funciones ejecutivas. Sujetos y metodos. Se evaluo a 50 sujetos, 12 mujeres y 38 varones, entre 8 y 10 años. Para evaluar el control inhibitorio se utilizo el Continuous Performance Test (CPT) y el test de Stroop; para la inteligencia y la memoria de trabajo, la escala de inteligencia de Wechsler para niños-IV; y para la atencion, el CPT y el Selective Attention Test. Resultados. No habia diferencias significativas entre ambos subtipos de TDAH en cuanto a la memoria de trabajo. Las niñas presentaban mejores habilidades en la tarea de flexibilidad cognitiva que los niños, y los sujetos diagnosticados de TDAH combinado presentaban mayores dificultades en el control inhibitorio. Conclusiones. Confirmamos que las definiciones del TDAH en el DSM-5 son imprecisas. Son una escasa enumeracion de sintomas clinicos del trastorno, sin definir con claridad criterios propios de el. Por lo tanto, la definicion del trastorno se realiza por la evaluacion especifica de la atencion y de los mecanismos de control inhibitorio y, por ello, es necesaria una evaluacion neuropsicologica de las funciones cerebrales superiores.

Six-Year Follow-up of Slaughterhouse Surveillance (2008-2013): The Catalan Slaughterhouse Support Network (SESC).

Meat inspection has the ultimate objective of declaring the meat and offal obtained from carcasses of slaughtered animals fit or unfit for human consumption. This safeguards the health of consumers by ensuring that the food coming from these establishments poses no risk to public health. Concomitantly, it contributes to animal disease surveillance. The Catalan Public Health Protection Agency (Generalitat de Catalunya) identified the need to provide its meat inspectors with a support structure to improve diagnostic capacity: the Slaughterhouse Support Network (SESC). The main goal of the SESC was to offer continuing education to meat inspectors to improve the diagnostic capacity for lesions observed in slaughterhouses. With this aim, a web-based application was designed that allowed meat inspectors to submit their inquiries, images of the lesions, and samples for laboratory analysis. This commentary reviews the cases from the first 6 years of SESC operation (2008-2013). The program not only provides continuing education to inspectors but also contributes to the collection of useful information on animal health and welfare. Therefore, SESC complements animal disease surveillance programs, such as those for tuberculosis, bovine cysticercosis, and porcine trichinellosis, and is a powerful tool for early detection of emerging animal diseases and zoonoses.

The role of general practitioners in diagnosis of cutaneous melanoma: a population-based study in France.

BACKGROUND: Little data are available concerning the role of general practitioners (GPs) in the diagnosis of melanoma. OBJECTIVES: To evaluate the actual role of GPs in a population-based study covering five regions of France and 8·2 million inhabitants. MATERIALS AND METHODS: A survey of cancer registries and pathology laboratories, and questionnaires to practitioners were used to identify incident melanomas in 2008, and evaluate characteristics of patients (age, sex, area of residence, social isolation), tumours (Breslow, ulceration, location, histological type), and GPs (training, conditions of practice), and their influence on patterns of diagnosis and Breslow thickness. RESULTS: Among 898 melanomas, 376 (42%) were first diagnosed in a general practice setting (GP group). Breslow thickness was much higher in the GP group than in other melanomas (median: 0·95 vs. 0·61 mm, P < 0·0001). Multivariate analysis identified an older age, lower limb location, nodular subtype and Breslow thickness as factors associated with the GP group. Within this group, 52·5% of melanomas were detected by patients (median Breslow thickness: 1·30 mm) and 47·5% by GPs (median Breslow thickness: 0·80 mm, P = 0·0009), including 8% during a systematic full-body skin examination. Previous GP training on melanoma was associated with active detection by GPs. Male sex and social isolation of patients were associated with thicker melanomas, whereas active detection by GPs was associated with thinner CMs. CONCLUSIONS: GPs play a key role in melanoma diagnosis in France, but still frequently detect thick tumours. Increasing awareness and training of GPs and focusing attention on male and/or socially isolated patients should help to improve early detection of melanoma.

Síndrome de microduplicación 3q29 / 3q29 microduplication syndrome

La microduplicación 3q29 (MIM 611936) es un raro síndrome caracterizado por retraso mental moderado, rasgos dismórficos craneofaciales y anomalías musculoesqueléticas. La región mínima crítica tiene un tamaño de aproximadamente 1,73Mb, está flanqueada por secuencias repetitivas y es similar en tamaño a la microdeleción recíproca 3q29, sugiriendo para ambas una recombinación homóloga no alélica (NAHR) entre las secuencias repetitivas como mecanismo de producción. Describimos una nueva familia con diferente expresividad clínica en la paciente y su madre (AU)

3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity (AU)

[3q29 microduplication syndrome]. / Síndrome de microduplicación 3q29.

3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73 Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity.

Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable / 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity

Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)

Microdeleción 7p14.1 y cefalopolisindactilia de Greig / 7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome

La cefalopolisindactilia de Greig es un síndrome autosómico dominante de baja prevalencia causado por mutaciones en el gen GLI3, localizado en 7p14.1 y caracterizado por la tríada clínica de polisindactilia, macrocefalia e hipertelorismo. En aproximadamente el 20% de los casos se detecta una deleción de tamaño variable. Si la deleción es grande y afecta a otros genes además de GLI3, puede aparecer un fenotipo más severo, aceptándose la denominación de cefalopolisindactilia de Greig-síndrome de genes contiguos para estos casos. Describimos el caso de una niña recién nacida con polisindactilia, hipertelorismo y microcefalia, que presenta una micro deleción en 7p14.1 de 1,5 Mb de origen paterno diagnosticada mediante array-CGH (AU)

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytob and 7p14.1 and characterized by the clinical triad ofpolysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacentgenes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH (AU)

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. / Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable.

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome]. / Microdeleción 7p14.1 y cefalopolisindactilia de Greig.

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.