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1.
Mol Psychiatry ; 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38783053

RESUMEN

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) are strongly associated with educational attainment (EA), but little is known about their genetic relationship with school performance and whether these links are explained, in part, by the genetic liability of EA. Here, we aim to dissect the polygenic contribution of ADHD and ASD to school performance, early manifestation of psychopathology and other psychiatric disorders and related traits by their relationship with EA. To do so, we tested the association of polygenic scores for EA, ADHD and ASD with school performance, assessed whether the contribution of the genetic liability of ADHD and ASD to school performance is influenced by the genetic liability of EA, and evaluated the role of EA in the genetic overlap between ADHD and ASD with early manifestation of psychopathology and other psychiatric disorders and related traits in a sample of 4,278 school-age children. The genetic liability for ADHD and ASD dissected by their relationship with EA show differences in their association with school performance and early manifestation of psychopathology, partly mediated by ADHD and ASD symptoms. Genetic variation with concordant effects in ASD and EA contributes to better school performance, while the genetic variation with discordant effects in ADHD or ASD and EA is associated with poor school performance and higher rates of emotional and behavioral problems. Our results strongly support the usage of the genetic load for EA to dissect the genetic and phenotypic heterogeneity of ADHD and ASD, which could help to fill the gap of knowledge of mechanisms underlying educational outcomes.

2.
Mol Psychiatry ; 28(8): 3493-3502, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37537283

RESUMEN

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder. We performed a transcriptome-wide association study (TWAS) using the latest genome-wide association study (GWAS) meta-analysis, in 38,691 individuals with ADHD and 186,843 controls, and 14 gene-expression reference panels across multiple brain tissues and whole blood. Based on TWAS results, we selected subsets of genes and constructed transcriptomic risk scores (TRSs) for the disorder in peripheral blood mononuclear cells of individuals with ADHD and controls. We found evidence of association between ADHD and TRSs constructed using expression profiles from multiple brain areas, with individuals with ADHD carrying a higher burden of TRSs than controls. TRSs were uncorrelated with the polygenic risk score (PRS) for ADHD and, in combination with PRS, improved significantly the proportion of variance explained over the PRS-only model. These results support the complementary predictive potential of genetic and transcriptomic profiles in blood and underscore the potential utility of gene expression for risk prediction and deeper insight in molecular mechanisms underlying ADHD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Transcriptoma , Humanos , Transcriptoma/genética , Trastorno por Déficit de Atención con Hiperactividad/genética , Estudio de Asociación del Genoma Completo , Leucocitos Mononucleares , Factores de Riesgo
3.
Am J Med Genet B Neuropsychiatr Genet ; 186(3): 140-150, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33244849

RESUMEN

Substance use disorder (SUD) often co-occur at high prevalence with other psychiatric conditions. Among them, attention-deficit and hyperactivity disorder (ADHD) is present in almost one out of every four subjects with SUD and is associated with higher severity, more frequent polysubstance dependence and increased risk for other mental health problems in SUD patients. Despite studies suggesting a genetic basis in the co-occurrence of these two conditions, the genetic factors involved in the joint development of both disorders and the mechanisms mediating these causal relationships are still unknown. In this study, we tested whether the genetic liability to five SUD-related phenotypes share a common background in the general population and clinically diagnosed ADHD individuals from an in-house sample of 989 subjects and further explored the genetic overlap and the causal relationship between ADHD and SUD using pre-existing GWAS datasets. Our results confirm a common genetic background between ADHD and SUD and support the current literature on the causal effect of the liability to ADHD on the risk for SUD. We added novel findings on the effect of the liability of lifetime cannabis use on ADHD and found evidence of shared genetic background underlying SUD in general population and in ADHD, at least for lifetime cannabis use, alcohol dependence and smoking initiation. These findings are in agreement with the high comorbidity observed between ADHD and SUD and highlight the need to control for substance use in ADHD and to screen for ADHD comorbidity in all SUD patients to provide optimal clinical interventions.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Predisposición Genética a la Enfermedad , Trastornos Relacionados con Sustancias/epidemiología , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/genética , Estudios de Casos y Controles , Comorbilidad , Humanos , Masculino , Prevalencia , Escalas de Valoración Psiquiátrica , Factores de Riesgo , España/epidemiología , Trastornos Relacionados con Sustancias/genética
4.
Women Health ; 55(5): 505-24, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25833659

RESUMEN

This study assessed changes in quality of life (QoL) and cardiorespiratory fitness (CRF) during a diet and physical activity (PA) intervention in breast cancer (BC) survivors and investigated the relation between these changes. The intervention of this single-arm pre-post study involved supervised, 1-hour weekly, diet sessions and 75-minute bi-weekly PA sessions of moderate-to-high intensity. This 12-week intervention targeted overweight/obese women who had recently completed BC treatment. Pre- and post-CRF and QoL measurements were compared using paired t-tests. Linear regression models, including baseline participants' characteristics and weight change, were used to assess the association between changes in CRF and QoL. The 37 BC survivors who completed the intervention between May 7, 2012 and July 27, 2012 showed significant increases in CRF and QoL. Peak oxygen uptake (mL/kg/min) increased from 19.0 ± 2.8 to 24.0 ± 4.1 while peak workload (watts/kg) increased from 1.3 ± 0.3 to 1.7 ± 0.3. Although statistical significance was not reached, the increase in workload seemed associated with increases in physical, mental, and general health and with a decrease in fatigue. This lifestyle intervention improved BC survivors' QoL and CRF and suggested possible relationships between CRF and QoL. More research needs to confirm these associations and promote lifestyle interventions aiming at improving BC survivors' QoL.


Asunto(s)
Neoplasias de la Mama/rehabilitación , Prueba de Esfuerzo , Terapia por Ejercicio/métodos , Obesidad/complicaciones , Aptitud Física/fisiología , Calidad de Vida , Sobrevivientes/psicología , Adulto , Anciano , Índice de Masa Corporal , Neoplasias de la Mama/fisiopatología , Neoplasias de la Mama/psicología , Dieta , Fatiga , Femenino , Estado de Salud , Humanos , Estilo de Vida , Modelos Lineales , Persona de Mediana Edad , Obesidad/terapia , Cooperación del Paciente/estadística & datos numéricos , Encuestas y Cuestionarios
5.
Clin Transl Oncol ; 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38782865

RESUMEN

PURPOSE: Radiotherapy (RT) with concomitant cisplatin (CRT) or cetuximab (ERT) are accepted treatment options for locally advanced squamous cell carcinoma of the head and neck (LA-SCCHN). Long-term adverse events (AEs) have a vast impact on patients' quality of life. This study explored tissue biomarkers which could help predict late toxicity. METHODS/PATIENTS: Single-institution prospective study including patients aged ≥ 18 with histologically confirmed newly diagnosed LA-SCCHN treated with RT and either concomitant cisplatin q3w or weekly cetuximab, according to institutional protocols. All patients underwent pre- and post-treatment skin biopsies of neck regions included in the clinical target volume. Angiogenesis, macrophages, and extracellular matrix (ECM) markers were evaluated by immunohistochemistry (IHC). RESULTS: From April 15, 2016, to December 11, 2017; 31 patients were evaluated [CRT = 12 (38.7%) and ERT = 19 (61.3%)]. 27 patients (87%) had received induction chemotherapy. All patients finished RT as planned. IHC expression of vasculature (CD34) and collagen (Masson's Trichrome) did not differ significantly between and within CRT and ERT arms. Conversely, an increased CD68 and CD163 macrophage infiltration expression was observed after treatment, without significant impact of treatment modality. Patients with higher late toxicity showed lower expression of macrophage markers in pre-treatment samples compared with those with lower late toxicity, with statistically significant differences for CD68. CONCLUSIONS: Angiogenesis and ECM biomarkers did not differ significantly between CRT and ERT. Macrophage markers increased after both treatments and deserve further investigation as predictors of late toxicity in LA-SCCHN patients. [Protocol code: TOX-TTCC-2015-01/Spanish registry of clinical studies (REec): 2015-003012-21/Date of registration: 27/01/2016].

6.
Transl Psychiatry ; 14(1): 221, 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38811559

RESUMEN

Substance use disorder (SUD) is a global health problem with a significant impact on individuals and society. The presentation of SUD is diverse, involving various substances, ages at onset, comorbid conditions, and disease trajectories. Current treatments for SUD struggle to address this heterogeneity, resulting in high relapse rates. SUD often co-occurs with other psychiatric and mental health-related conditions that contribute to the heterogeneity of the disorder and predispose to adverse disease trajectories. Family and genetic studies highlight the role of genetic and environmental factors in the course of SUD, and point to a shared genetic liability between SUDs and comorbid psychopathology. In this study, we aimed to disentangle SUD heterogeneity using a deeply phenotyped SUD cohort and polygenic scores (PGSs) for psychiatric disorders and related traits. We explored associations between PGSs and various SUD-related phenotypes, as well as PGS-environment interactions using information on lifetime emotional, physical, and/or sexual abuse. Our results identify clusters of individuals who exhibit differences in their phenotypic profile and reveal different patterns of associations between SUD-related phenotypes and the genetic liability for mental health-related traits, which may help explain part of the heterogeneity observed in SUD. In our SUD sample, we found associations linking the genetic liability for attention-deficit hyperactivity disorder (ADHD) with lower educational attainment, the genetic liability for post-traumatic stress disorder (PTSD) with higher rates of unemployment, the genetic liability for educational attainment with lower rates of criminal records and unemployment, and the genetic liability for well-being with lower rates of outpatient treatments and fewer problems related to family and social relationships. We also found evidence of PGS-environment interactions showing that genetic liability for suicide attempts worsened the psychiatric status in SUD individuals with a history of emotional physical and/or sexual abuse. Collectively, these data contribute to a better understanding of the role of genetic liability for mental health-related conditions and adverse life experiences in SUD heterogeneity.


Asunto(s)
Herencia Multifactorial , Fenotipo , Trastornos Relacionados con Sustancias , Humanos , Trastornos Relacionados con Sustancias/genética , Trastornos Relacionados con Sustancias/epidemiología , Masculino , Femenino , Adulto , Predisposición Genética a la Enfermedad , Persona de Mediana Edad , Estudio de Asociación del Genoma Completo , Interacción Gen-Ambiente , Adulto Joven , Comorbilidad , Trastornos Mentales/genética , Trastornos Mentales/epidemiología
7.
Clin Nutr ; 41(5): 1059-1065, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35395556

RESUMEN

BACKGROUND: Computed tomography images acquired during routine cancer care provide an opportunity to determine body composition with accuracy and precision. Quantification of skeletal muscle is of interest owing to its association with clinical outcomes. However, the standards of precision testing considered mandatory in other areas of radiology are lacking from the literature in this area. We aim to describe the change in skeletal muscle over time at different anatomical levels using the precision error. METHODS: Thirty-eight male patients with squamous cell carcinoma of the head and neck were evaluated at two time points encompassing their treatment plan. Precision testing consisted of analyzing the cross-sectional area (CSA) of the skeletal muscle and total adipose tissue of 76 CT studies (38 images at baseline repeated twice and 38 follow-up images repeated twice) measured by a skilled observer. The % coefficient of variation (%CV), the root-mean-square standard deviation (RMS SD) and the corresponding 95% least significant change (LSC) were calculated for four anatomical levels: upper arm, thigh, chest and abdomen. RESULTS: The median time between scans was 223.6 (SD 31.2) days. Precision error (% CV) for total skeletal muscle cross sectional area was 0.86% for upper arm, 0.26% for thigh, 0.39% for chest and 0.63% for abdomen. The corresponding LSC values in upper arm, thigh, chest and abdomen were 2.4%, 0.7%, 1.1% and 1.8%, respectively. Based on the LSC for RMS SD, patients were classified in two categories according to muscle cross-sectional area: stable (i.e within LSC value) or gained and loss. To compare the four anatomical levels, the proportion of patients with muscle loss exceeding the LSC value was 74.3% for arm, 86.2% for thigh, 82.9% for chest and 76.3% for abdomen. For these same anatomic regions, the mean muscle loss for those patients classified below the LSC was 14.6% (SD 9.3), 13.4% (SD 7.8), 11.9% (SD 6.5) and 11.6% (SD 5.5), respectively. Only the loss of muscle area was significantly higher in thigh (p = 0.023), using L3 as the reference level. CONCLUSIONS: We recommend the uniform use of a standard precision test when reporting muscle change over time. LSC values vary from 0.7 to 2.4% depending on anatomic site; with the lowest precision error to detect change in the thigh. Based on this analysis, muscle wasting appears to be systemic and while present in limbs and trunk is significantly higher in the thigh than in the chest, abdomen or upper arm.


Asunto(s)
Composición Corporal , Neoplasias , Brazo , Humanos , Masculino , Músculo Esquelético/diagnóstico por imagen , Neoplasias/terapia , Muslo , Torso
8.
Nutrients ; 14(7)2022 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-35406054

RESUMEN

Nutrition education resources are of interest for cancer patients and survivors throughout the cancer continuum. We examined the web-based nutrition information in Spanish for cancer patients and survivors provided by national cancer organizations (NCOs). The Guide to Internet Resources for Cancer and the membership list of the Union for International Cancer Control were searched to identify the NCOs. The International Patients Decisions Aid Standards (IPDAS) was used to describe the quality of the available information. We identified 20 NCOs that provided nutrition information aimed at a general audience on their websites. Web-based resources of nine NCOs were selected for presentation in this review. Website scores ranged between 20 and 24 in the IPDAS scale (maximum score = 31). The selected NCOs offered reliable and safe information. Healthy eating information for cancer patients and management of side-effects was provided by all websites. Information was more limited for cancer survivors. We recommend that NCOs increase the possibilities for personalized recommendations and interaction with the content by including instrumental tools on their websites.


Asunto(s)
Supervivientes de Cáncer , Neoplasias , Dieta Saludable , Humanos , Internet , Neoplasias/terapia , Estado Nutricional , Sobrevivientes
9.
Artículo en Inglés | MEDLINE | ID: mdl-36104161

RESUMEN

OBJECTIVE: Approximately 20% of established malignant bowel obstruction (MBO) patients do not respond to pharmacological treatment. In these cases, venting percutaneous radiologic gastrostomy (VPRG) may be useful. Existing evidence is based on retrospective studies with methodological limitations. The purpose of this study is to describe safety and effectiveness for symptom control after VPRG placement in a prospective cohort of MBO patients. METHODS: Complications of VPRG placement, symptom control, destination on discharge and survival were analysed. RESULTS: Twenty-one patients were included, 13 (61.9%) of whom were women. Mean age was 62.7 years (36-85). Local pain (n=8, 38.1%) and peristomal leakage (n=4, 19%) were the most frequent minor complications. No major complications occurred. Nausea and vomiting were relieved in most patients (n=20, 95.2%) after VPRG, and small quantities of liquid diet were introduced to these patients. Median time to death after VPRG was 13 days (IQR 8.6-17.4). Thirteen patients (61.9%) were discharged, with seven of them (33.3%) returning home. CONCLUSIONS: When pharmacological treatment fails, the use of VPRG in MBO patients may be feasible, safe and effective.

10.
Transl Psychiatry ; 12(1): 409, 2022 09 24.
Artículo en Inglés | MEDLINE | ID: mdl-36153331

RESUMEN

Attention-deficit/hyperactivity disorder (ADHD) is a highly prevalent neurodevelopmental disorder that results from the interaction of both genetic and environmental risk factors. Genome-wide association studies have started to identify multiple genetic risk loci associated with ADHD, however, the exact causal genes and biological mechanisms remain largely unknown. We performed a multi-step analysis to identify and characterize modules of co-expressed genes associated with ADHD using data from peripheral blood mononuclear cells of 270 ADHD cases and 279 controls. We identified seven ADHD-associated modules of co-expressed genes, some of them enriched in both genetic and epigenetic signatures for ADHD and in biological pathways relevant for psychiatric disorders, such as the regulation of gene expression, epigenetics and immune system. In addition, for some of the modules, we found evidence of potential regulatory mechanisms, including microRNAs and common genetic variants. In conclusion, our results point to promising genes and pathways for ADHD, supporting the use of peripheral blood to assess gene expression signatures in psychiatric disorders. Furthermore, they highlight that the combination of multi-omics signals provides deeper and broader insights into the biological mechanisms underlying ADHD.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , MicroARNs , Trastorno por Déficit de Atención con Hiperactividad/genética , Redes Reguladoras de Genes , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Leucocitos Mononucleares , MicroARNs/genética
11.
Front Oncol ; 11: 699668, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34249760

RESUMEN

BACKGROUND: Reduced muscle mass has been associated with increased treatment complications in several tumor types. We evaluated the impact of skeletal muscle index (SMI) on prognosis and immune-related adverse events (IrAEs) in a cohort of recurrent/metastatic (R/M) head and neck squamous cell carcinoma (HNSCC) treated with immune checkpoints inhibitors (ICI). METHODS: A single-institutional, retrospective study was performed including 61 consecutive patients of R/M HNSCC diagnosed between July 2015 and December 2018. SMI was quantified using a CT scan at L3 to evaluate body composition. Median baseline SMI was used to dichotomize patients in low and high SMI. Kaplan-Meier estimations were used to detect overall survival (OS) and progression-free survival (PFS). Toxicity was recorded using Common Terminology Criteria for Adverse Event v4.3. RESULTS: Patients were 52 men (85.2%) with mean of age 57.7 years (SD 9.62), mainly oral cavity (n = 21; 34.4%). Low SMI was an independent factor for OS in the univariate (HR, 2.06; 95% CI, 1.14-3.73, p = 0.017) and multivariate Cox analyses (HR, 2.99; 95% CI, 1.29-6.94; p = 0.011). PFS was also reduced in patients with low SMI (PFS HR, 1.84; 95% CI, 1.08-3.12; p = 0.025). IrAEs occurred in 29 (47.5%) patients. There was no association between low SMI and IrAEs at any grade (OR, 0.56; 95% CI, 0.20-1.54; p = 0.261). However, grades 3 to 4 IrAEs were developed in seven patients of whom three had low SMI. CONCLUSIONS: Low SMI before ICI treatment in R/M HNSCC patients had a negative impact on OS and PFS. Further prospective research is needed to confirm the role of body composition as a predictive biomarker in ICI treatment.

12.
Transl Psychiatry ; 11(1): 382, 2021 07 08.
Artículo en Inglés | MEDLINE | ID: mdl-34238926

RESUMEN

Compelling evidence supports alterations in gut microbial diversity, bacterial composition, and/or relative abundance of several bacterial taxa in attention-deficit/hyperactivity disorder (ADHD). However, findings for ADHD are inconsistent among studies, and specific gut microbiome signatures for the disorder remain unknown. Given that previous studies have mainly focused on the pediatric form of the disorder and involved small sample sizes, we conducted the largest study to date to compare the gastrointestinal microbiome composition in 100 medication-naïve adults with ADHD and 100 sex-matched healthy controls. We found evidence that ADHD subjects have differences in the relative abundance of several microbial taxa. At the family level, our data support a lower relative abundance of Gracilibacteraceae and higher levels of Selenomonadaceae and Veillonellaceae in adults with ADHD. In addition, the ADHD group showed higher levels of Dialister and Megamonas and lower abundance of Anaerotaenia and Gracilibacter at the genus level. All four selected genera explained 15% of the variance of ADHD, and this microbial signature achieved an overall sensitivity of 74% and a specificity of 71% for distinguishing between ADHD patients and healthy controls. We also tested whether the selected genera correlate with age, body mass index (BMI), or scores of the ADHD rating scale but found no evidence of correlation between genera relative abundance and any of the selected traits. These results are in line with recent studies supporting gut microbiome alterations in neurodevelopment disorders, but further studies are needed to elucidate the role of the gut microbiota on the ADHD across the lifespan and its contribution to the persistence of the disorder from childhood to adulthood.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Microbioma Gastrointestinal , Trastornos del Neurodesarrollo , Adolescente , Adulto , Atención , Índice de Masa Corporal , Niño , Humanos , Adulto Joven
13.
Eur J Clin Nutr ; 75(10): 1515-1519, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-33568807

RESUMEN

We assessed forty HNC patients receiving treatment with curative intent. Specific quantitative muscle and fat changes were evaluated using CT. Nutrition support was provided according to ESPEN guidelines, with adjusted body weight (ABW) in overweight/obese patients used to define their nutritional targets. Linear regression models were used to evaluate clinical predictors of tissue loss. Mean overall losses were body weight (-10.5%), and CT-defined muscle (-8.4%) and fat mass (-24.8%), p < 0.001. A subset of 20 patients had high muscle loss (-14.7%) with concurrent negative energy balance as reflected by considerable fat loss (-29.7%); those tended to have higher baseline body mass index (26.2 vs. 23.3 kg/m2, p = 0.063). In multivariate regression, only ABW independently predicted muscle loss (p < 0.001) and fat loss (p = 0.002). Nutrition support according to guidelines was appropriate for a subset of patients. ABW use to set nutrition targets in overweight/obese patients would appear to be insufficient, based on large tissue losses.


Asunto(s)
Neoplasias de Cabeza y Cuello , Quimioradioterapia , Ingestión de Alimentos , Humanos , Apoyo Nutricional , Tomografía Computarizada por Rayos X
14.
Ecology ; 101(10): e03137, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32692405

RESUMEN

This data set describes the abundance of 50 invertebrate taxa found in intertidal mussel beds along the Atlantic Canadian coast. This information resulted from a regional-scale study that investigated the effects of wave exposure on the richness and composition of invertebrate assemblages from intertidal mussel beds. Abundance data are provided for taxa representing the Annelida, Arthropoda, Bryozoa, Chordata, Cnidaria, Echinodermata, Mollusca, Nematoda, Nemertea, and Platyhelminthes. The data characterize mussel beds from wave-sheltered and wave-exposed locations spanning 315 km of the coast of Nova Scotia. Univariate and multivariate analyses revealed that the compositional structure of these invertebrate assemblages differed markedly depending on wave exposure. Overall, because of its taxonomic diversity, the inclusion of data for basal, intermediate, and top trophic levels, and the coverage of two extremes of environmental stress, this data set could be useful to test broader aspects of ecological theory. Areas of ecology that could advance using this data set are those concerning environmental stress models of community organization, abundance-occupancy relationships, species co-occurrence, species abundance distributions, dominance and rarity, spatial scales of population and community variation, and distribution of functional and phylogenetic diversity. Use of this data set for academic or educational purposes is allowed as long as the data source is properly cited. When used for academic or educational purposes, this data set should be cited using the title of this Data Paper, the names of the authors, the year of publication, and the corresponding volume and article numbers.


Asunto(s)
Bivalvos , Ecosistema , Animales , Invertebrados , Nueva Escocia , Filogenia
15.
Front Oncol ; 10: 85, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32266126

RESUMEN

The core function of a multidisciplinary team (MDT) is to bring together a group of healthcare professionals from different fields in order to determine patients' treatment plan. Most of head and neck cancer (HNC) units are currently led by MDTs that at least include ENT and maxillofacial surgeons, radiation and medical oncologists. HNC often compromise relevant structures of the upper aerodigestive tract involving functions such as speech, swallowing and breathing, among others. The impairment of these functions can significantly impact patients' quality of life and psychosocial status, and highlights the crucial role of specialized nurses, dietitians, psycho-oncologists, social workers, and onco-geriatricians, among others. Hence, these professionals should be integrated in HNC MDTs. In addition, involving translational research teams should also be considered, as it will help reducing the existing gap between basic research and the daily clinical practice. The aim of this comprehensive review is to assess the role of the different supportive disciplines integrated in an MDT and how they help providing a better care to HNC patients during diagnosis, treatment and follow up.

16.
Transl Psychiatry ; 10(1): 199, 2020 06 19.
Artículo en Inglés | MEDLINE | ID: mdl-32561708

RESUMEN

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder that often persists into adulthood. There is growing evidence that epigenetic dysregulation participates in ADHD. Given that only a limited number of epigenome-wide association studies (EWASs) of ADHD have been conducted so far and they have mainly focused on pediatric and population-based samples, we performed an EWAS in a clinical sample of adults with ADHD. We report one CpG site and four regions differentially methylated between patients and controls, which are located in or near genes previously involved in autoimmune diseases, cancer or neuroticism. Our sensitivity analyses indicate that smoking status is not responsible for these results and that polygenic risk burden for ADHD does not greatly impact the signatures identified. Additionally, we show an overlap of our EWAS findings with genetic signatures previously described for ADHD and with epigenetic signatures for smoking behavior and maternal smoking. These findings support a role of DNA methylation in ADHD and emphasize the need for additional efforts in larger samples to clarify the role of epigenetic mechanisms on ADHD across the lifespan.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Adulto , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Metilación de ADN , Epigenoma , Epigenómica , Estudio de Asociación del Genoma Completo , Humanos , Herencia Multifactorial
17.
Neuropsychopharmacology ; 45(10): 1617-1626, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32279069

RESUMEN

Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappropriate symptoms of inattention, impulsivity, and hyperactivity that persist into adulthood in the majority of the diagnosed children. Despite several risk factors during childhood predicting the persistence of ADHD symptoms into adulthood, the genetic architecture underlying the trajectory of ADHD over time is still unclear. We set out to study the contribution of common genetic variants to the risk for ADHD across the lifespan by conducting meta-analyses of genome-wide association studies on persistent ADHD in adults and ADHD in childhood separately and jointly, and by comparing the genetic background between them in a total sample of 17,149 cases and 32,411 controls. Our results show nine new independent loci and support a shared contribution of common genetic variants to ADHD in children and adults. No subgroup heterogeneity was observed among children, while this group consists of future remitting and persistent individuals. We report similar patterns of genetic correlation of ADHD with other ADHD-related datasets and different traits and disorders among adults, children, and when combining both groups. These findings confirm that persistent ADHD in adults is a neurodevelopmental disorder and extend the existing hypothesis of a shared genetic architecture underlying ADHD and different traits to a lifespan perspective.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Adulto , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Antecedentes Genéticos , Estudio de Asociación del Genoma Completo , Humanos , Conducta Impulsiva , Fenotipo
18.
Nutrition ; 33: 297-303, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27751743

RESUMEN

OBJECTIVES: The aim of this study was to design a new nutritional screening tool (NUTRISCORE) to detect nutritional risk in outpatients with cancer. METHODS: A multicenter, cross-sectional study was conducted. We randomly selected outpatients receiving onco-specific, palliative, or symptomatic treatment for malignant neoplasms (including solid tumors and hematologic malignancies). These patients were assessed using the NUTRISCORE tool, the Malnutrition Screening Tool (MST), and the Patient-Generated Subjective Global Assessment (PG-SGA) to detect risk for malnutrition. The new tool included questions regarding the cancer site and active treatment. Sensitivity, specificity, and positive and negative predictive values were calculated for NUTRISCORE and MST using the PG-SGA as a reference method. RESULTS: We evaluated 394 patients. According to NUTRISCORE, 22.6% were at risk for malnutrition. The MST detected a risk in 28.2%, and the PG-SGA found that 19% were malnourished or at nutritional risk. Using the PG-SGA as a reference method, the MST had a sensitivity of 84% and a specificity of 85.6%, whereas NUTRISCORE exceeded these values, at 97.3% sensitivity and 95.9% specificity. The better performance of NUTRISCORE as compared with MST was confirmed by the receiver operating characteristic curve analysis, with area under the curve values of 0.95 (95% confidence interval, 0.92-0.98) for NUTRISCORE and 0.84 (95% confidence interval, 0.79-0.89) for the MST. CONCLUSIONS: NUTRISCORE has been found to be a novel, fast, and valid nutritional screening tool for outpatients with cancer. Its simplicity and high level of accuracy in detecting nutritional risk facilitates its applicability.


Asunto(s)
Desnutrición/diagnóstico , Neoplasias/terapia , Evaluación Nutricional , Estado Nutricional , Anciano , Terapia Combinada/efectos adversos , Estudios Transversales , Diagnóstico Precoz , Femenino , Humanos , Masculino , Desnutrición/epidemiología , Desnutrición/etiología , Persona de Mediana Edad , Neoplasias/fisiopatología , Servicio Ambulatorio en Hospital , Cuidados Paliativos , Valor Predictivo de las Pruebas , Riesgo , Autoinforme , Sensibilidad y Especificidad , España/epidemiología
19.
Nutr Hosp ; 30(1): 1-14, 2014 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-25137256

RESUMEN

The group of standardization and protocols of the Spanish Society of Parenteral and Enteral Nutrition (SENPE) published in 2011 a consensus document SENPE/SEGHNP/ANECIPN/SECP on enteral access for paediatric nutritional support. Along the lines of this document, we have developed another document on adult patients to homogenize the clinical practice and improve the quality of care in enteral access in this age group. The working group included health professionals (nurses, dietitians and doctor) with extensive experience in enteral nutrition and access. We tried to find scientific evidence through a literature review and we used the criteria of the Agency for Health-care Research and Quality (AHRQ) to classify the evidence (Grade of Recommendation A, B or C). Later the document was reviewed by external experts to the group and requested the endorsement of the Scientific and Educational Committee (CCE) and the group of home artificial nutrition (NADYA) of the SENPE. The full text will be published as a monograph number in this journal.


El grupo de estandarización y protocolos de la Sociedad Española de Nutrición Parenteral y Enteral (SENPE) publicó en el año 2011 un Documento de Consenso SEN - PE/SEGHNP/ANECIPN/SECP sobre vías de acceso en nutrición enteral (NE) pediátrica. Siguiendo las líneas de este documento, hemos querido realizar un documento similar centrado en los pacientes adultos que sirva para homogeneizar la práctica clínica y mejorar la calidad de los cuidados de las vías de acceso en NE en este grupo de edad. El grupo de trabajo incluyó a profesionales (enfermeras, dietistas y médico) con extensa experiencia en NE y vías de acceso Se intentó buscar la evidencia científica mediante una revisión bibliográfica y se utilizaron los criterios de la Agency for Health-care Research and Quality (AHRQ) para clasificar la evidencia (grados de recomendación A-B-C). Posteriormente el documento fue revisado por expertos externos al grupo y se solicitó el aval del Comité Científico Educacional (CCE) y del Grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA) de la SENPE. El texto completo se publicará como número monográfico.


Asunto(s)
Nutrición Enteral/normas , Adulto , Nutrición Enteral/instrumentación , Nutrición Enteral/métodos , Humanos , Guías de Práctica Clínica como Asunto , Estándares de Referencia
20.
Rev Esp Geriatr Gerontol ; 47(6): 279-83, 2012.
Artículo en Español | MEDLINE | ID: mdl-23044361

RESUMEN

On 2nd of June 2011 the Institut Català d' Oncologia l'Hospitalet--Hospital Duran i Reynals hosted the first Meeting of Multidisciplinary Work in Oncogeriatrics. The reason for the meeting, which follows on from an initiative of the Medical Societies of Radiotherapy, Oncology, Geriatrics and Gerontology and Palliative Care and Medical Oncology, was to initiate a joint line of work among the different specialties that generally take part in the handling of the elderly patient suffering from oncologic pathologies. This document summarises the different subjects covered during the Meeting.


Asunto(s)
Geriatría , Oncología Médica , Neoplasias , Anciano , Humanos , Neoplasias/diagnóstico , Neoplasias/terapia , Guías de Práctica Clínica como Asunto
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