Epidemiology of skin ulceration disease in wild sea cucumber Holothuria arguinensis, a new aquaculture target species.

Interest in wildlife epidemiology has increased in recent years. The control of diseases is critical for the survival of natural populations of economically valuable species. The present study is the first investigation of the etiology and epidemiology of skin ulceration disease in the sea cucumber Holothuria arguinensis, a new target species for fisheries and aquaculture in Europe. Bacterial cultures and molecular techniques were used to characterize this disease in animals collected during a survey across Ría Formosa Natural Park coastal lagoon in southern Portugal. Vibrio gigantis and V. crassostreae, which were both originally identified as disease agents in cultured oysters, were the most commonly isolated species of bacteria. Given that both sampling areas from which symptomatic H. arguinensis were collected were close to open oyster aquaculture facilities, this raises the possibility of an opportunistic infection, perhaps secondary to a decreased immune response caused by biotic or abiotic factors. An increase in prevalence of skin ulceration disease during the warmer season suggests that solar radiation and desiccation due to air exposure during low tide could be a cause of abiotic stress in the lagoon. Distributions of abundance and sizes of H. arguinensis in affected areas showed highest morbidity rates in adults. High fishery pressures throughout the study period could also cause elevations in prevalence and incidence rate of this disease. Skin ulcerative disease is endemic in this coastal lagoon. Disease monitoring is thus essential for the development of a conservation program to ensure the sustainability of fisheries and protection of natural resources.

Current, future and potential use of mobile and wearable technologies and social media data in the ABCD study to increase understanding of contributors to child health.

Mobile and wearable technologies and novel methods of data collection are innovating health-related research. These technologies and methods allow for multi-system level capture of data across environmental, physiological, behavioral, and psychological domains. In the Adolescent Brain Cognitive Development (ABCD) Study, there is great potential for harnessing the acceptability, accessibility, and functionality of mobile and social technologies for in-vivo data capture to precisely measure factors, and interactions between factors, that contribute to childhood and adolescent neurodevelopment and psychosocial and health outcomes. Here we discuss advances in mobile and wearable technologies and methods of analysis of geospatial, ecologic, social network and behavioral data. Incorporating these technologies into the ABCD study will allow for interdisciplinary research on the effects of place, social interactions, environment, and substance use on health and developmental outcomes in children and adolescents.

Oral status, quality of life, and anxiety and depression in hemodialysis patients and the effect of the duration of treatment by dialysis on these variables.

This study aimed is to evaluate the oral health status, quality of life, anxiety and depression among hemodialysis patients and to analyze the effect of the duration of dialysis on these variables. 120 patients on hemodialysis and 120 control subjects underwent oral examination, periodontal evaluation, xerostomia study using a Visual Analogue Scale (VAS), sialometry evaluation; quality of life (QOL) using the OHIP-14 questionnaire and anxiety/depression. Bleeding index, CPTIN, clinical attachment level, and probing depth were significantly higher in the hemodialysis group than the control group (p < 0.001). VAS scores were higher in patients on hemodialysis with significant differences in 6 of the 8 domains (p ≤ 0.05). Unstimulated whole saliva was significantly lower in hemodialysis patients than control subjects (p < 0.001). OHIP-14 scores showed significantly poorer QOL in patients on hemodialysis than control subjects (p = 0.042). Hemodialysis patients presented greater depression and anxiety than control (p < 0.001). Periodontal health was worse among the patients who had been in treatment >10 years, xerostomia and sialorrea was worse in patients treated for 5-9.9, and >10 years, QOL was worse in patients who had spent <1 year; depression and anxiety was greater among those treated for 1-2.9 years. In conclusion, Oral health, QOL, anxiety and depression are worse in patients on hemodialysis, and oral health deteriorates as the time spent in dialysis lengthens, but patients in treatment for <3 years presented the poorest QOL and the greatest anxiety and depression.

Altered gene expression in human placenta after suspected preterm labour.

INTRODUCTION: Suspected preterm labour occurs in around 9% of pregnancies. However, almost two-thirds of women admitted for threatened preterm labour ultimately deliver at term and are considered risk-free for fetal development. METHODS: We examined placental and umbilical cord blood samples from preterm or term deliveries after threatened preterm labour as well as term deliveries without threatened preterm labour. We quantitatively analysed the mRNA expression of inflammatory markers (IL6, IFNγ, and TNFα) and modulators of angiogenesis (FGF2, PGF, VEGFA, VEGFB, and VEGFR1). RESULTS: A total of 132 deliveries were analysed. Preterm delivery and term delivery after suspected preterm labour groups showed similar increases in TNFα expression compared with the term delivery control group in umbilical cord blood samples. Placental samples from preterm and term deliveries after suspected preterm labour exhibited significantly increased expression of TNFα and IL6 and decreased expression of IFNγ. Suspected preterm labour was also associated with altered expression of angiogenic factors, although not all differences reached statistical significance. DISCUSSION: We found gene expression patterns indicative of inflammation in human placentas after suspected preterm labour regardless of whether the deliveries occurred preterm or at term. Similarly, a trend towards altered expression of angiogeneic factors was not limited to preterm birth. These findings suggest that the biological mechanisms underlying threatened preterm labour affect pregnancies independently of gestational age at birth.

Associations between physical activity and BMI, body fatness, and visceral adiposity in overweight or obese Latino and non-Latino adults.

BACKGROUND/OBJECTIVES: Although several studies have reported associations between moderate to vigorous physical activity (MVPA), body fatness and visceral adipose tissue (VAT), the extent to which associations differ among Latinos and non-Latinos remains unclear. This study evaluated the associations between body composition and MVPA in Latino and non-Latino adults. SUBJECTS/METHODS: An exploratory, cross-sectional analysis was conducted using baseline data collected from 298 overweight adults enrolled in a 12-month randomized controlled trial that tested the efficacy of text messaging to improve weight loss. MVPA, body fatness and VAT were assessed by waist-worn accelerometry, dual-energy x-ray absorptiometry (DXA), and DXA-derived software (GE CoreScan GE, Madison, WI, USA), respectively. Participants with <5 days of accelerometry data or missing DXA data were excluded; 236 participants had complete data. Multivariable linear regression assessed associations between body composition and MVPA per day, defined as time in MVPA, bouts of MVPA (time per bout ⩾10 min), non-bouts of MVPA (time per bout <10 min) and meeting the 150-min MVPA guideline. The modifying influence of ethnicity was modeled with a multiplicative interaction term. RESULTS: The interaction between ethnicity and MVPA in predicting percent body fat was significant (P=0.01, 95% confidence interval (CI) (0.58, 4.43)) such that a given increase in MVPA was associated with a greater decline in total body fat in non-Latinos compared with Latinos (adjusted for age, sex and accelerometer wear time). There was no interaction between ethnicity and MVPA in predicting VAT (g) (P=0.78, 95% CI (-205.74, 273.17)) and body mass index (BMI) (P=0.18, 95% CI (-0.49, 2.26)). CONCLUSIONS: An increase in MVPA was associated with a larger decrease in body fat, but neither BMI nor VAT, in non-Latinos compared with Latinos. This suggests that changes in VAT and BMI in response to MVPA may be less influenced by ethnicity than is total body fatness.

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)

BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1 (AU)

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Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.

Leucoencefalopatía posterior reversible en un paciente con lesión medular / Reversible posterior leucoencephalopathy in a patient with spinal cord injury

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[Proposal for a new microsurgical model for the study of induced endometriosis in Wistar rats. Preliminary results]. / Propuesta de un nuevo modelo microquirúrgico para el estudio de la endometriosis inducida en rata Wistar. Resultados preliminares.

The current knowledge status on the patogenesis of endometriosis as well as devastating consequences of disease evolution in women's reproductive health, have promoted researchers advances in a great manner during last years. The immunologic and neangiogenesis systems implication have opened new ways of knowledge over classic theories from the beginning of the xx century. The experimental resesearch, using animal induction models. Below we explain the first steps a new induction model ("PGR1-HotDog"), based on Wistar rats using a new disease autogeneration system, created for te study of the early stages of the endometriosis.

Propuesta de un nuevo modelo microquirúrgico para el estudiode la endometriosis inducida en rata Wistar. Resultados Preliminares / Proposal for a New Microsurgical Model for the Study of Induced Endometriosis in Wistar Rats. Preliminary Results

El desconocimiento actual sobre la patogenia de la endometriosis ylas devastadores consecuencias que conlleva esta enfermedad paralas mujeres en edad reproductiva, han sido las grandes promotorasde los esfuerzos de los investigadores en los últimos años. La implicaciónpatogénica del sistema inmunológico, así como de los procesosneoangiogénicos ha abierto una gran vía de conocimiento sobre lasteorías clásicas conocidas desde principios del siglo XX. Todo ello, pasapor la investigación experimental de la endometriosis, en modelosanimales, con sistemas de inducción de la enfermedad. A continuaciónexplicamos los primeros resultados de un nuevo modelo experimentalde autogeneración de endometriosis en rata Wistar (“PGR1-HotDog”),creado con una fi nalidad, el conocimiento de las fases más precocesde la enfermedad (AU)

The current knowledge status on the patogenesis of endometriosis aswell as devastating consequences of disease evolution in women´sreproductive health, have promoted researchers advances in a greatmanner during last years. The immunologic and neangiogenesis systemsimplication have opened new ways of knowledge over classic theoriesfrom the beginning of the XX century. The experimental resesearch,using animal induction models. Below we explain the fi rst steps a newinduction model (“PGR1-HotDog”), based on Wistar rats using a newdisease autogeneration system, created for te study of the early stagesof the endometriosis (AU)

Dendritic cell uptake of iron-based magnetic nanoparticles.

We have investigated the internalization of magnetic nanoparticles (NPs) into dendritic cells (DCs) in order to assess both the final location of the particles and the viability of the cultured cells. The particles, consisting of a metallic iron core covered with carbon, showed no toxic effects on the DCs and had no effect in their viability. We found that mature DCs are able to incorporate magnetic nanoparticles in a range of size from 10 nm to ca. 200 nm, after 24 h of incubation. We describe a method to separate cells loaded with NPs, and analyze the resulting material by electron microscopy and magnetic measurements. It is found that NPs are internalized in lysosomes, providing a large magnetic signal. Our results suggest that loading DCs with properly functionalized magnetic NPs could be a promising strategy for improved vectorization in cancer diagnosis and treatment.

Prognostic value of quantitative immune alterations in melanoma patients

Introducción y objetivos: Los pacientes con cáncer presentan una alteración de la respuesta inmune.La inmunosupresión en melanoma, juega un papel importante. El objetivo de este estudio fue valorar las alteracionescueantitativas de la inmunidad en pacienets con melanoma.• Pacientes y métodos: Se obtuvieron muestras de sangre periférica en EDTA de 86 pacientes con melanoma(63 pacientes libres de enfermedad y 23 pacientes con metástasis a distancia). Los niveles de leucocitostotales, linfocitos totales, linfocitos CD3, linfocitos CD4, linfocitos CD8, linfocitos B (CD19) y linfocitosNK (CD56) fueron valorados mediante marcadores de superficie por citometría de flujo usando un CoulterEpics Elite (Coulter Corp). Los niveles de IgA, IgG, IgE e IgM fueron valorados por nefelometría usando unnefelómetro Hyland PDQ laser.• Resultados: Hubo diferencias significativas entre pacienets metastásicos y pacientes libres de enfermedaden los niveles de linfocitos totales (mediana: 2251.57 vs 1783.04/mm3, p=.001), linfocitos B (CD19)(216.1 vs 108.36/mm3, p=.010), linfocitos NK (CD56) (149.54 vs 115.2/mm3, p=.016) y niveles de IgA(241.59 vs 300.55 mg dL, p=.044) al considerarlas como variables continuas. Al considerar cada parámetro deestudio como una variable cualitativa, sólo se observaron diferencias significativas en los niveles totales delinfocitos, existiendo un 73.9% d elos pacientes con enfermedad a distancia niveles d elinfocitos por debajo de2000 células/mm3 frente a un 36.5% de pacienets libres de enfermedad (χ2 Pearson = 9.476, df = 1, p = .002).La mediana de supervivencia para 46 pacientes con niveles totales de linfocitos por encima de 2000células/mm3 fue de 965 días (DF= 65.03, IC 95% = 792.72 - 1090.30) frente a 441 días (DF= 75.61, IC 95% =292.81 - 589.19) para 40 pacientes con niveles totales de linfocitos 2000 células / mm3 (log rank = 4.54, df=1,p= .0331).• Conclusiones: Existen diferencias significativas en los niveles de algunas subpoblaciones linfocitariasy en los niveles de IgA entre pacienets metastásicos y pacienets libres de enfermedad. Los pacientes con melanomacon niveles de linfocitos totales por encima de 2000 cells/mm3 tiene una mayor supervivencia que aquelloscon niveles por debajo de 2000 cells/mm3

Purpose: The immune response is altered in patients with neoplasms. Immunosuppression hasimportant consequences in patients with melanoma. The aim of this study was to assess quantitative immunealterations in melanoma patients..• Material and methods: We obtained a peripheral blood sample in EDTA from 86 melanoma patients(63 of them disease-free and 23 with distant disease). Total leukocytes and lymphocytes, B lymphocytes(CD19), types CD3, CD4, CD8 lymphocytes, and NK lymphocytes (CD56) were counted by determining thesurface markers by flow cytometry, using a Coulter Epics Elite (Coulter Corp.). IgA, IgG, IgE and IgM wereassayed by nephelometric methods employing a Hyland PDQ laser nephelometer.• Results: We found significant differences between disease-free patients and those with active diseasewith regard to lymphocytes total count (median: 2251.57 vs. 1783.04/mm3, p=0.010), NK lymphocytes(CD56) (149.54 vs. 115.2/mm3, p=0.016), and IgA levels (241.59 vs. 300.55 mg/dl, p=0.044), when taken ascontinuous variables. When considering each parameter as a discontinuous variable, only changes in absolutelymphocyte count retained an statistical difference depending on the presence or absence of active disease,73.9% of the patients with active metastatic disease having a lymphocyte count below 2000 cells/mm3 versusonly 36.5% of the disease-free patients (c2 Pearson=9.476, df=1, p=0.002). The median survival for the 46patients with absolute lymphocyte count above 2000 cells/mm3 was 965 days (DF=65.03, IC 95%=792.72-1090.30) versus 441 days (DF=75.61, IC 95%=292.81-589.19) for the 40 patients with absolute lymphocytecount below 2000 cells/mm3 (log rank=4.54, df=1, p=0.0331).• Conclusions: There are significant differences in some lymphocyte populations and IgA levels betweenpatients with metastases and disease-free patients. Melanoma patients with absolute lymphocyte levels above2000 cells/mm3 have a longer survival than those with a lymphocyte count below 2000 cells/mm3

Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer?

hMLH1 and hMSH2 can be considered tumor suppressor genes, as both alleles must be inactivated in order to lose the mismatch repair (MMR) function. In this regard, it has been proposed that LOH at MMR loci is a common Knudson's second-hit mechanism in HNPCC patients. However, experimental evidence supporting this view is scarcely found in the literature. We have performed a comprehensive analysis of LOH in 45 HNPCC tumors carrying a germline alteration in MMR loci. Overall, we have detected LOH at MMR loci in 56% of the cases. However, up to 40% of the LOH events targeted the mutant allele, arguing against a second-hit role in these tumors. Interestingly, the age at diagnosis was significantly older in these patients. To explain this and previous data, we propose a dual role for LOH at MMR loci in HNPCC.

Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics.

OBJECTIVE: To test whether statistical models developed to calculate pre-test probability of being a BRCA1/2 carrier can differentiate better between the breast/ovarian families to be referred to the DNA test laboratory. STUDY DESIGN: A retrospective analysis was performed in 109 Spanish breast/ovarian families previously screened for germline mutations in both the BRCA1 and BRCA2 genes. Four easy to use logistic regression models originally developed in Spanish (HCSC model), Dutch (LUMC model), Finnish (HUCH model), and North American (U Penn model) families and one model based on empirical data of Frank 2002 were tested. A risk counsellor was asked to assign a subjective pre-test probability for each family. Sensitivity, specificity, negative and positive predictive values, and areas under receiver operator characteristics (ROC) curves were calculated in each case. Correlation between predicted probability and mutation prevalence was tested. All statistical tests were two sided. RESULTS: Overall, the models performed well, improving the performances of a genetic counsellor. The median ROC curve area was 0.80 (range 0.77-0.82). At 100% sensitivity, the median specificity was 30% (range 25-33%). At 92% sensitivity, the median specificity was 42% (range 33.3-54.2%) and the median negative predictive value was 93% (range 89.7-98%). BRCA1 families tended to score higher risk than BRCA2 families in all models tested. CONCLUSIONS: All models increased the discrimination power of an experienced risk counsellor, suggesting that their use is valuable in the context of clinical counselling and genetic testing to optimise selection of patients for screening and allowing for more focused management. Models developed in different ethnic populations performed similarly well in a Spanish series of families, suggesting that models targeted to specific populations may not be necessary in all cases. Carrier probability as predicted by the models is consistent with actual prevalence, although in general models tend to underestimate it. Our study suggests that these models may perform differently in populations with a high prevalence of BRCA2 mutations.

Results from EuCliD (European Clinical Dialysis Database): impact of shifting treatment modality.

BACKGROUND: The use of biocompatible high-flux membranes is more efficient than low-flux membranes in controlling a number of hemodialysis-related diseases. The aim of this cooperative study was to evaluate the 6-month effect of a switch from low- to high-flux dialysers on patients treated in 39 Spanish dialysis centres. METHODS: The clinical data used in this analysis were prospectively collected by the EuCliD database, developed to monitor the quality of treatment delivered in a large network of European Dialysis Centres. Inclusion criteria for the study were the condition of end-stage renal disease (ESRD) on chronic hemodialysis and low-flux dialysis for at least six months before the switch to high-flux dialysis. Of 1,543 patients enrolled in the study between 2000 and 2001, 1,046 patients were considered for the analysis. 497 patients were excluded because they did not complete the follow-up. Outcome measures were the reduction of pre-dialysis beta-2 microglobulin, the improvement of anemia or reduction in rHu-EPO dose required to maintain best correction of anemia, reduction of inflammatory parameters (CRP), improvement in lipid profile (Total and HDL cholesterol, tryglycerides), maintenance of nutritional status. Albumin and "dry" (post-hemodialysis) body weight were both evaluated as nutritional indexes. RESULTS: During the six months of high-flux hemodialysis, there was a significant increase in hemoglobin (from 11.55 +/- 1.41 to 11.88 +/- 1.43 g/L; p < 0.001). Considering the temporarily untreated patients on a 0 U/week dose, erythropoietin remained stable (from 5,670 +/- 4,199 to 5,657 +/- 4,411 U/week). During the second part of the follow-up, the lipid profile significantly improved (Fig. 3). Total cholesterol and triglycerides decreased significantly (p < 0.001), while HDL cholesterol increased (p = 0.006). Calculated levels of LDL cholesterol also significantly decreased (p = 0.001). Dry body weight remained stable (64.7 +/- 11.9 vs. 64.7 +/- 12.0 kg) as well as in albumin levels (3.93 +/- 0.43 vs. 3.94 +/- 0.43 g/dL) between the two modalities of treatment. The level of beta2-microglobulin significantly decreased during high-flux dialysis (33.5 +/- 14.4 vs. 26.3 +/- 8.6 mg/dL, p < 0.001). CONCLUSION: All above mentioned results may have as a common denominator an improved blood purification from uremic toxins and a reduced level of chronic sub-clinical inflammation. All together, these results seem to confirm the superiority of high-flux dialysis in terms of clinical and physiological outcomes.

Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

Germline mutations in the MLH1 and MSH2 genes, account for the majority of HNPCC families. We have screened such families from Spain by using DGGE analysis and subsequent direct sequencing techniques. In eight families we identified six novel MLH1 and two novel MSH2 mutations comprising one frame shift mutation (c.1420 del C), two missense mutations (L622H and R687W), two splice site mutations (c.1990-1 G>A and c.453+2 T>C and one nonsense mutation (K329X) in the MLH1 gene as well as two frame shift mutations (c.1979-1980 del AT and c.1704-1705 del AG) in the MSH2 gene. Our analysis contributes to the further characterization of the mutational spectrum of MLH1 and MSH2 genes in HNPCC families.