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BACKGROUND: The body site location of primary Malignant Melanoma (MM) has been correlated with prognosis and survival. Ethnic, genetics, sun exposure factors are related to the anatomical distribution of MM. Low and high socioeconomic strata in Chile differ in ethnic, genetic and cultural conditions. The purpose of this study was to analyze the anatomical MM distribution in the Chilean population in both strata searching for differences due to their ethno-genetic-cultural differences. Records of 1148 MM, 575cases from state hospitals (Low Socioeconomic Strata, LSS) and 573 cases from private clinics (High Socioeconomic Strata, HSS) were analyzed by body site. RESULTS: Females from LSS showed a higher number of MM in soles, cheeks, and around the eye area. Females from the HSS showed a higher number of MM in dorsal feet and dorsal hands. Males from LSS showed a higher number of MM in soles, around the eye area, and cheeks. However, males from HSS showed a higher number of MM in the trunk, and in the arms. Acral MM was significantly higher in LSS than in the HSS in both sexes. The Chilean population from the HSS and LSS showed differences in the distribution of MM by site. Furthermore, gender differences in the proportion of MM analyzed by anatomical site are observed in both strata. CONCLUSIONS: Results show evidence that differential genetics factors, sun exposure, or other environmental or cultural factors of both strata may account for these differences.

Abstract Background The most common subtype of ovarian cancer (OC) showing immunogenic potential is represented by the high-grade serous ovarian cancer (HGSOC), which is characterized by the presence of tumor-infiltrating immune cells able to modulate immune response. Because several studies showed a close correlation between OC patient’s clinical outcome and expression of programmed cell death protein-1 or its ligand (PD-1/PD-L1), the aim of our study was to investigate if plasma levels of immunomodulatory proteins may predict prognosis of advanced HGSOC women. Patients and methods Through specific ELISA tests, we analyzed plasma concentrations of PD-L1, PD-1, butyrophilin sub-family 3A/CD277 receptor (BTN3A1), pan-BTN3As, butyrophilin sub-family 2 member A1 (BTN2A1), and B- and T-lymphocyte attenuator (BTLA) in one hundred patients affected by advanced HGSOC, before surgery and therapy. The Kaplan–Meier method was used to generate the survival curves, while univariate and multivariate analysis were performed using Cox proportional hazard regression models. Results For each analyzed circulating biomarker, advanced HGSOC women were discriminated based on long (≥ 30 months) versus short progression-free survival (PFS 0.42 ng/mL), PD-1 (> 2.48 ng/mL), BTN3A1 (> 4.75 ng/mL), pan-BTN3As (> 13.06 ng/mL), BTN2A1 (> 5.59 ng/mL) and BTLA (> 2.78 ng/mL). Furthermore, a lower median PFS was associated with peritoneal carcinomatosis, age at diagnosis > 60 years or Body Mass Index (BMI) > 25. A multivariate analysis also suggested that plasma concentrations of PD-L1 ≤ 0.42 ng/mL (HR: 2.23; 95% CI: 1.34 to 3.73; p = 0.002), age at diagnosis ≤ 60 years (HR: 1.70; 95% CI: 1.07 to 2.70; p = 0.024) and absence of peritoneal carcinomatosis (HR: 1.87; 95% CI: 1.23 to 2.85; p = 0.003) were significant prognostic marker for a longer PFS in advanced HGSOC patients. Conclusions The identification of high-risk HGSOC women could be improved through determination of the plasma PD-L1, PD-1, BTN3A1, pan-BTN3As, BTN2A1 and BTLA levels.

Abstract Background The scientific evidence regarding the risk of delayed intracranial bleeding (DB) after mild traumatic brain injury (MTBI) in patients administered an antiplatelet agent (APA) is scant and incomplete. In addition, no consensus exists on the utility of a routine repeated head computed tomography (CT) scan in these patients. Objective The aim of this study was to evaluate the risk of DB after MTBI in patients administered an APA. Methods A systematic review and meta-analysis of prospective and retrospective observational studies enrolling adult patients with MTBI administered an APA and who had a second CT scan performed or a clinical follow-up to detect any DB after a first negative head CT scan were conducted. The primary outcome was the risk of DB in MTBI patients administered an APA. The secondary outcome was the risk of clinically relevant DB (defined as any DB leading to neurosurgical intervention or death). Results Sixteen studies comprising 2930 patients were included in this meta-analysis. The pooled absolute risk for DB was 0.77% (95% CI 0.23–1.52%), ranging from 0 to 4%, with substantial heterogeneity (I2 = 61%). The pooled incidence of clinically relevant DB was 0.18%. The subgroup of patients on dual antiplatelet therapy (DAPT) had an increased DB risk, compared to the acetylsalicylic acid (ASA)-only patients (2.64% vs. 0.22%; p = 0.04). Conclusion Our systematic review showed a very low risk of DB in MTBI patients on antiplatelet therapy. We believe that such a low rate of DB could not justify routine repeated CT scans in MTBI patients administered a single APA. We speculate that in the case of clinically stable patients, a repeated head CT scan could be useful for select high-risk patients and for patients on DAPT before discharge.

Abstract Background DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in preserving genome stability (including chromosome stability) by controlling both gene expression and chromatin structure. Therefore, the onset of an incorrect pattern of DNA methylation is potentially dangerous for the cells. This is particularly important with respect to repetitive elements, which constitute the third of the human genome. Main body Repetitive sequences are involved in several cell processes, however, due to their intrinsic nature, they can be a source of genome instability. Thus, most repetitive elements are usually methylated to maintain a heterochromatic, repressed state. Notably, there is increasing evidence showing that repetitive elements (satellites, long interspersed nuclear elements (LINEs), Alus) are frequently hypomethylated in various of human pathologies, from cancer to psychiatric disorders. Repetitive sequences’ hypomethylation correlates with chromatin relaxation and unscheduled transcription. If these alterations are directly involved in human diseases aetiology and how, is still under investigation. Conclusions Hypomethylation of different families of repetitive sequences is recurrent in many different human diseases, suggesting that the methylation status of these elements can be involved in preservation of human health. This provides a promising point of view towards the research of therapeutic strategies focused on specifically tuning DNA methylation of DNA repeats.

Abstract Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Methods Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients. Results After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting. Conclusions The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.

Abstract Background Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single institution case series, is sparse in regard to well-designed studies to support clinical decision making in these situations. Methods Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, “best practice” guidelines in the care of spinal disorders in patients with skeletal dysplasia. Results Starting with 33 statements, the group a developed a list of 31 “best practice” guidelines. Conclusions The guidelines are presented and discussed to provide context for clinicians in their decision making in this often-challenging realm of care.

Abstract Background The 8th edition of the American Joint Committee on Cancer (AJCC) staging has introduced prognostic stage based on anatomic stage combined with biologic factors. We aimed to validate the prognostic stage in HER2-positive breast cancer patients enrolled in the ShortHER trial. Methods The ShortHER trial randomized 1253 HER2-positive patients to 9 weeks or 1 year of adjuvant trastuzumab combined with chemotherapy. Patients were classified according to the anatomic and the prognostic stage. Distant disease-free survival (DDFS) was calculated from randomization to distant relapse or death. Results A total of 1244 patients were included. Compared to anatomic stage, the prognostic stage downstaged 41.6% (n = 517) of patients to a more favorable stage category. Five-year DDFS based on anatomic stage was as follows: IA 96.6%, IB 94.1%, IIA 92.4%, IIB 87.3%, IIIA 81.3%, IIIC 70.5% (P

Résumé Contexte Dans le but d’obtenir des informations concernant les relations entre troubles du sommeil et paramètres spermatiques, nous avons analysé les données recueillies au cours d’une étude menée dans une Clinique de la Fertilité, en Italie, chez les hommes de couples en recherche d’aide pour infécondité. Patients et Méthodes Etaient éligibles pour l’étude tous les partenaires masculins avec ou sans antécédents médicaux d’affections des organes reproducteurs (mal descente testiculaire, varicocèle, torsion du cordon spermatique). De mai 2014 à novembre 2016, 382 hommes ont été évalués, tous ayant rempli un questionnaire auto-administré sur les habitudes générales du mode de vie. Puis chacun a eu une analyse de sperme. Au total, 382 hommes âgés de 26 à 67 ans (médiane: 39 ans; intervalle interquartile (IQR): 37–42) ont été recrutés. Résultats Au total, 46% des hommes ont rapporté avoir des troubles du sommeil. En analyse multivariée, en l’absence d’affections des organes reproducteurs, le volume de sperme était abaissé chez les patients qui présentaient des difficultés d’endormissement (2.0 mL, IQR 1.5–3.0 vs 3.0 mL, IQR 2.0–3.3, p = .01); alors qu’en présence d’affections des organes reproducteurs la mobilité A était plus basse chez ceux qui avaient un réveil matinal précoce (25.0%, IQR 15.0–35.0 vs. 40.0%, IQR 30.0–50.0, p = .001). Parmi les hommes en surpoids, le volume de sperme était plus faible chez ceux qui présentaient des difficultés d’endormissement (2.0 mL, IQR 1.5–3.0 vs 3.0 mL, IQR 2.0–3.0, p = .03). De plus, parmi les fumeurs, ceux qui avaient des difficultés d’endormissement présentaient un volume de sperme abaissé (1.5 mL, IQR 1.5–2.5 vs 3.0 mL, IQR 2.0–3.5, p = .0003) et une concentration de spermatozoïdes plus grande (40 millions/mL, IQR 15–60 vs 10 millions/mL, IQR 5–50 p = .03); mais la quantité totale de spermatozoïdes dans l’éjaculat n’était pas significativement différente. Conclusion Des études supplémentaires sont nécessaires pour déterminer la nature des relations entre qualité du sommeil et paramètres spermatiques, ce qui pourrait avoir d’importantes implications sur la santé publique.

El análisis palinológico de la Formación Navidad en afloramientos de la Cordillera de la Costa, Chile central, brindó asociaciones dominadas por leños, cutículas, algas de agua dulce, esporas y granos de polen (elementos de origen continental) con muy escasa participación de quistes de dinoflagelados, acritarcos y cubiertas internas de foraminíferos arenáceos (componentes marinos) indicando que estas asociaciones se habrían acumulado en un ambiente marino. Las asociaciones de polen y esporas indican el desarrollo de una vegetación de bosque con participación de elementos gondwánicos (Podocarpaceae, Araucariaceae, Nothofagaceae) y neotropicales (Sapotaceae, Malphigiaceae, Arecaceae, Chloranthaceae, Tiliaceae/Bombacaceae) -Paleoflora Mixta- apoyando hipótesis previas basadas en las megafloras. En las márgenes de los bosques se habrían desarrollado parches con vegetación esclerófila con AAnacardiaceae y Fabaceae como componentes principales. Sobre suelos arenosos o marismas salinos se habrían desarrollado elementos herbaceo-arbustivos, xerofíticos y halofíticos, como Chenopodiaceae y Calyceraceae. Se destaca el primer registro de taxones endémicos de las familias Calyceraceae y Asteraceae (Barnadesioideae) para la palinoflora de Chile. Estas comunidades vegetales se habrían desarrollado bajo condiciones de clima subtropical, cálido y húmedo. Desde el punto de vista cronoestratigráfico las asociaciones esporopolínicas sustentan una edad neógena para la Formación Navidad.Palynological assemblages recovered from the Navidad Formation in outcrops of the Cordillera de la Costa, central Chile, are dominated by wood remains, cuticles, spores and pollen grains and fresh water algae (continental elements) with scarce dinoflagellate cysts, acritarchs, foraminiferal linnings marine palynomorphs) indicating that these assemblages would have been accumulated in a marine environment. Spore-pollen assemblages indicate a forest vegetation with the co-existence of Gondwanan (Podocarpaceae, Araucariaceae, Nothofagaceae) and neotropical (Sapotaceae, Malphigiaceae, Arecaceae, Chloranthaceae, Tiliaceae/Bombacaceae) taxa -Mixed Paleoflora- supporting previous assumptions based on the macroflora. On the forest margins, patches of sclerophyllous formations with Anacardiaceae and Fabaceae as prevailing components may have also established. Xerophitic and halophytic shrubby-herbaceous elements (Chenopodiaceae, Calyceraceae) may have developed in sandy soils and costal salt marshes. Endemic components such as Calyceraceae and Asteraceae (Barnadesioideae) were recorded for the first time in Chile. This flora would have developed under warm and humid climatic conditions. The spore-pollen assemblages support a Neogene age for the Navidad Formation.

Medicago polymorpha es una especie naturalizada en Chile que presenta una gran varaibilidad en características agronómicas, tales como precocidad, producción de semilla, y producción de materia seca, asociada de un gradiente climático. Los objetivos de este trabajo fueron evaluar la diversidad isoenzimática en accesiones de M. polymorpha y su relación con la variabilidad fenotípica, y establecer posibles relaciones genéticas con otras especies de Medicago. Para esto se analizaron 12 sistemas isoenzimáticos en 41 accesiones de M. polymorpha, provenientes de un amplio rango de condiciones edafoclimáticas, y de 16 accesiones de M. arabica, M rotata, M. rigidula, M. tornata, M. littoralis y M. truncatula. Los resultados indicaron una escasa diversidad isoenzimática dentro de M. polymorpha, y una falta de correspondencia con la variabilidad fenotípica y distribución geográfica de las accesiones. El análisis multivariado permitió agrupar las especies en forma separada. M. arabica, que también está naturalizada en Chile, fue la especie mas cercana a M. polymorpha, en cambio, M. littoralis, M. rigidula y M. rotata fueron las especies que presentaron una mayor distancia genética con M. polymorpha.Medicago polymorpha is a naturalized species in Chile which presents great variability in agronomic traits such as flowering and reproductive phenology, seed production, seed hardness, and dry matter production, associated to a climatic gradient. The objectives of this work were to assess the isozymatic diversity in accessions of M. polymorpha and its relation with the phenotypic variability, and to establish possible genetic links with other species of Medicago. Forty one accessions of M. polymorpha obtained from a wide range of climatic and edaphic conditions, and 16 accessions of M. arabica, M. rotata, M. rigidula, M. tornata, M. littoralis and M. truncatula, were evaluated for 12 isozyme systems. The results showed a low isozymatic diversity within accessions of M. polymorpha, and a lack of association between geographical distribution and isozyme diversity. Multivariate analysis allowed to cluster the species separately. M. arabica, another naturalized species in Chile, was the closest species to M. polymorpha, whereas M. littoralis, M. rigidula and M. rotata presented a higher genetic distance from M. polymorpha.