Prevalence and characterization of breakthrough pain in cancer patients with proctalgia treated with 3D pelvic radiotherapy.

PURPOSE: Radiotherapy-induced dysfunction of the gastrointestinal tract is common in cancer patients and has a significant impact on their quality of life. In this study, we investigated the prevalence of breakthrough cancer pain (BTcP) in patients undergoing 3D pelvic radiotherapy and who had proctalgia. METHODS: This observational, multicenter, cross-sectional epidemiological study was performed in 13 Spanish hospitals. Data were obtained on the presence and characteristics of BTcP, demographics, common comorbidities, and treatments prescribed to the patients. RESULTS: The prevalence of BTcP in patients undergoing pelvic 3D external radiotherapy with proctalgia (N = 105) was 48.6% (95% CI 39.0-58.1%). BTcP was further characterized in 59 patients. The mean (± SD) intensity of the BTcP episodes was 7.45 ± 1.47 in a visual analog scale. We found several statistically significant associations between the descriptive variables of BTcP with demographic and clinical variables associated with the tumor or the patient, such as an increased number of BTcP episodes per day depending on the presence or absence of diabetes (p = 0.001, Chi-square) or time to the onset of pain relief depending on the location of the tumor (p = 0.019, Chi-square). Fentanyl was the drug of choice in BTcP episodes for 95% of the patients. CONCLUSIONS: This study demonstrated a high prevalence of BTcP prevalence in cancer patients undergoing pelvic 3D radiotherapy and with proctalgia. Although the variables determining the onset of BTcP are still unclear, our results could help in the design of future clinical studies addressing the treatment of BTcP in these patients.

Cáncer de mama en el varón: revisión de la literatura y aportación de nuestra casuística / No disponible

Objetivos: Revisar los perfiles inmunohistoquímicos, aspectos genéticos y hormonales ligados a la expresión de tumores, factores pronósticos y tratamientos hormonales como inhibidores de la aromatasa en el cáncer de mama en el varón. Así mismo aportar nuestra casuística. Métodos: Se realizó una búsqueda bibliográfica utilizando las palabras clave cáncer de mama, varón, clasificación molecular e inmunohistoquímica en los repertorios bibliográficos de Pubmed y Tripdatabase entre los años 2001-2011. Así mismo hemos realizado un estudio retrospectivo de los varones que han sido diagnosticados e intervenidos quirúrgicamente por cáncer de mama en nuestro hospital en los últimos 15 años. Conclusiones: La clasificación según los marcadores inmunohistoquímicos del cáncer de mama permitiría distinguir aquellos con mejor y peor pronóstico, siendo el más favorable el tipo luminal A y sienta las bases del tratamiento tanto neo como adyuvante(AU)

Objectives: To review the immunohistochemical profiles, genetic and hormonal aspects linked to the expression of tumors, prognosis factors and hormonal treatments, like aromatase inhibitor, in male breast cancer. Also, to report our casuistry. Methods: A bibliographic review using the keywords breast cancer, male, molecular and immunohistochemical classification was carried out on PubMed and Tripdatabase between 2001 and 2010. Also, we made a retrospective study of male patients with breast cancer diagnosed and treated in our hospital within the last 15 years. Conclusions: The classification of breast cancer in male patients according to immunohistochemical markers would permit to distinguish between tumors with good or bad prognosis, being the luminal A type the most favourable, and assess the basis of neodjuvant and adjuvant treatment(AU)

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

Down's syndrome (DS) is a major cause of mental retardation, hypotonia and delayed development. Murine models of DS carrying large murine or human genomic fragments show motor alterations and memory deficits. The specific genes responsible for these phenotypic alterations have not yet been defined. DYRK1A, the human homolog of the Drosophila minibrain gene, maps to the DS critical region of human chromosome 21 and is overexpressed in DS fetal brain. DYRK1A encodes a serine-threonine kinase, probably involved in neuroblast proliferation. Mutant Drosophila minibrain flies have a reduction in both optic lobes and central brain, showing learning deficits and hypoactivity. We have generated transgenic mice (TgDyrk1A) overexpressing the full-length cDNA of Dyrk1A. TgDyrk1A mice exhibit delayed cranio-caudal maturation with functional consequences in neuromotor development. TgDyrk1A mice also show altered motor skill acquisition and hyperactivity, which is maintained to adulthood. In the Morris water maze, TgDyrk1A mice show a significant impairment in spatial learning and cognitive flexibility, indicative of hippocampal and prefrontal cortex dysfunction. In the more complex repeated reversal learning paradigm, this defect turned out to be specifically related to reference memory, whereas working memory was almost unimpaired. These alterations are comparable with those found in the partial trisomy chromosome 16 murine models of DS and suggest a causative role of DYRK1A in mental retardation and in motor anomalies of DS.

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency caused by mutations in the WASP gene. The disease is known to be associated with extensive clinical variability, and mutation studies indicate that genotypes are also highly variant among WAS patients. In this study, we performed mutation analysis of the WASP gene in 14 unrelated Spanish families by single strand conformation analysis (SSCA) and sequencing, resulting in the identification of a novel mutation and nine known mutations. No mutation was identified in one family. The ten different mutations include point mutations resulting in amino acid substitutions, stop codons, and small deletions and insertions causing frameshifts. Missense mutations were preferentially located in the amino-terminal part of the protein, exons 2 and 4, whereas stop and frameshift mutations were located in the carboxyl-terminal region, exons 10 and 11. However, in two families, two missense mutations in exon 11 were identified. Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability.