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1.
BMC Psychiatry ; 24(1): 318, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38658915

RESUMEN

BACKGROUND: Studies conducted in Western societies have identified variables associated with chronic pain, but few have done so across cultures. Our study aimed to clarify the relationship between specific mental health markers (i.e., depression, anxiety, posttraumatic stress disorder [PTSD], perceived stress) as well as specific protective factors (i.e., social support and self-efficacy) related to physical pain among university students across non-WEIRD and WEIRD samples. METHOD: A total of 188 university students (131 women and 57 men) were included in the study. We used network analysis to ascertain mental health markers especially central to the experience of physical pain. RESULTS: No statistically significant difference was found between mental health markers (i.e., depression, anxiety, perceived stress, and PTSD) and protective factors (i.e., social support and self-efficacy) associated with physical pain symptoms for Swiss students versus Indian students (M = 0.325, p = .11). In addition, networks for Swiss versus Indian students did not differ in global strength (S = 0.29, p = .803). Anxiety was the most central mental health marker, and social support was the most important protective factor related to physical pain in both countries. However, for Swiss students, perceived stress, and for Indian students, PTSD symptoms were central mental health markers related to physical pain. CONCLUSION: Our results identify factors that may serve as important treatment targets for pain interventions among students of both countries before it becomes chronic.


Asunto(s)
Ansiedad , Depresión , Factores Protectores , Autoeficacia , Apoyo Social , Trastornos por Estrés Postraumático , Estudiantes , Humanos , Masculino , Femenino , Estudiantes/psicología , Adulto Joven , Adulto , Trastornos por Estrés Postraumático/psicología , Ansiedad/psicología , Depresión/psicología , Suiza , India , Universidades , Estrés Psicológico/psicología , Dolor Crónico/psicología , Adolescente , Salud Mental , Dolor/psicología
2.
Artículo en Inglés | MEDLINE | ID: mdl-39150515

RESUMEN

A fire in one of the Windscale nuclear reactors at Sellafield (Cumbria, England) in October 1957 released 1,800 TBq of 131I (half-life, 8 days) to atmosphere. Measurements of 131I activity in thyroids of exposed children showed typical thyroid doses of tens of milligray, but with some exceeding 100 mGy. Radiation exposure in childhood is known to increase the risk of thyroid cancer. Consequently, an investigation was conducted into whether raised numbers of thyroid cancer cases occurred in those exposed to 131I as young children in Cumbria. A database of Cumbrian births from 1950 onwards allowed cohorts of 56,086 births during 1950-1958 and 137,444 births during 1959-1980 to be constructed, periods including children potentially exposed and unexposed, respectively, to 131I. Three areas of Cumbria with different 131I contamination levels were identified from monitoring data, and births assigned to these three areas for the two periods of birth. Members of these six sub-cohorts were linked to incident thyroid cancer cases in Great Britain during 1981-2020 using national cancer registration databases, providing thyroid cancer incidence rates. Incidence rate ratios (IRRs), with the lowest contamination area as a reference, were computed. No IRR differed discernibly from unity. For births during 1950-1958, the IRR for the combined highest and intermediate 131I contamination areas was 0.68 (95% confidence interval: 0.24, 1.56), and no case of thyroid cancer was found in the small cohort born in the highest contamination area. In conclusion, no increased risk of thyroid cancer in those exposed to 131I as young children in Cumbria in 1957 was detected. This study adds to the evidence on the long-term risk of thyroid cancer following childhood exposure to low and moderate levels of 131I, such as occurred following the Fukushima nuclear accident in 2011.

3.
Pediatr Res ; 93(7): 1927-1935, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36183005

RESUMEN

BACKGROUND: Late and moderate preterm (LMPT) infants are at risk for adverse later life outcomes. We determined the association between feeding method at enrolment and growth and body composition of LMPT infants until 3 months corrected age (3mCA). METHODS: Infants born between 32+0 and 36+6 weeks of gestation (n = 107) were enrolled up to 4 weeks corrected age and stratified according to feeding at enrolment. We performed anthropometric measurements at enrolment, term equivalent age (TEA) and 3mCA, including skinfold measurements and body composition using dual X-ray absorptiometry (DEXA). RESULTS: Feeding method at enrolment was associated with fat mass (FM) (breast 554.9 g, mixed 716.8 g, formula 637.7 g, p = 0.048), lean body mass (LM) (2512 g, 2853 g, 2722 g, respectively, p = 0.009) and lean mass index (LMI) (10.6 kg/m2, 11.6 kg/m2,11.2 kg/m2 respectively, p = 0.008) at TEA, but not 3mCA. Breastfed infants demonstrated greater increase in LM (breast 1707 g, mixed 1536 g, formula 1384 g, p = 0.03) and LMI (1.23 kg/m2, 0.10 kg/m2, 0.52 kg/m2, respectively, p = 0.022) between TEA and 3mCA. CONCLUSIONS: Breastfed LMPT infants have lower FM and greater LM increase and LMI increase up to 3mCA compared to formula or mixed-fed infants. These findings stress the importance of supporting breastfeeding in this population. IMPACT: Infants born late and moderate preterm age who are exclusively breastfed soon after birth gain more lean mass up to 3 months corrected age compared to mixed- or formula-fed infants. Breastfed infants have lower lean and fat mass at term equivalent age compared to mixed- and formula-fed infants. This is the first study exploring this population's growth and body composition in detail at 3 months corrected age. Our results underline the importance of supporting mothers to initiate and continue breastfeeding at least until 3 months corrected age.


Asunto(s)
Lactancia Materna , Leche Humana , Recién Nacido , Femenino , Lactante , Humanos , Composición Corporal , Fórmulas Infantiles
4.
J Pers ; 2023 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-37724779

RESUMEN

OBJECTIVE: Solitude is a common experience that can elicit both positive (e.g., relaxation) and negative (e.g., loneliness) emotions. But can changing the way we think about solitude improve its emotional effects? In a previous study, our team found that positively reframing solitude buffers against a reduction in positive affect when alone. Yet, it is unknown whether people who are lonely-and thus more likely to experience solitude negatively-benefit from modifying their beliefs about being alone. METHOD: Here, we test whether reframing solitude as a beneficial experience or de-stigmatizing loneliness helps people experiencing moderate-to-severe loneliness (N = 224) feel more positive emotion and less negative emotion during solitude. We randomly assigned participants to read about either the benefits of solitude, the high prevalence of loneliness, or a control topic. Then, participants spent 10 min alone in the laboratory. State affect was assessed before and after the solitude period. RESULTS: Across conditions, the solitude period reduced high-arousal positive (e.g., excited) and high-arousal negative (e.g., anxious) affect. Notably, people who read about the benefits of solitude experienced a significantly larger increase in low-arousal positive affect compared with the control condition. CONCLUSION: Our findings indicate that lonely individuals can more readily reap the emotional benefits of solitude when they reframe solitude as an experience that can enhance their well-being.

5.
Genes Chromosomes Cancer ; 61(12): 747-753, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36029175

RESUMEN

ALK is the most commonly mutated oncogene in neuroblastoma with increased mutation frequency reported at relapse. Here we report the loss of an ALK mutation in two patients at relapse and a paired neuroblastoma cell line at relapse. ALK detection methods including Sanger sequencing, targeted next-generation sequencing and a new ALK Agena MassARRAY technique were used to detect common hotspot ALK variants in tumors at diagnosis and relapse from two high-risk neuroblastoma patients. Copy number analysis including single nucleotide polymorphism array and array comparative genomic hybridization confirmed adequate tumor cell content in DNA used for mutation testing. Case 1 presented with an ALK F1174L mutation at diagnosis with a variant allele frequency (VAF) ranging between 23.5% and 28.5%, but the mutation was undetectable at relapse. Case 2 presented with an ALK R1257Q mutation at diagnosis (VAF = 39%-47.4%) which decreased to <0.01% at relapse. Segmental chromosomal aberrations were maintained between diagnosis and relapse confirming sufficient tumor cell content for mutation detection. The diagnostic SKNBE1n cell line harbors an ALK F1174S mutation, which was lost in the relapsed SKNBE2c cell line. To our knowledge, these are the first reported cases of loss of ALK mutations at relapse in neuroblastoma in the absence of ALK inhibitor therapy, reflecting intra-tumoral spatial and temporal heterogeneity. As ALK inhibitors are increasingly used in the treatment of refractory/relapsed neuroblastoma, our study highlights the importance of confirming whether an ALK mutation detected at diagnosis is still present in clones leading to relapse.


Asunto(s)
Quinasa de Linfoma Anaplásico , Neuroblastoma , Proteínas Tirosina Quinasas Receptoras , Quinasa de Linfoma Anaplásico/genética , Hibridación Genómica Comparativa , Humanos , Mutación , Recurrencia Local de Neoplasia/genética , Neuroblastoma/patología , Inhibidores de Proteínas Quinasas , Proteínas Tirosina Quinasas Receptoras/genética
6.
J Child Sex Abus ; 32(1): 116-126, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36229991

RESUMEN

Ross argued that false memory researchers misunderstand the concepts of repression and dissociation, as well as the writings of Freud. In this commentary, we show that Ross is wrong. He oversimplifies and misrepresents the literature on repressed and false memory. We rebut Ross by showing the fallacies underlying his arguments. For example, we adduce evidence showing that the notions of dissociation or repression are unnecessary to explain how people may forget and then remember childhood sexual abuse, stressing that abuse survivors may reinterpret childhood events later in life. Also, Ross overlooks previous critiques concerning dissociation. Finally, we will demonstrate that Ross misrepresents work by Freud and Loftus in the area of repressed and false memory. His article confuses, not clarifies, an already heated debate on the existence of repressed memory.


Asunto(s)
Abuso Sexual Infantil , Maltrato a los Niños , Masculino , Niño , Humanos , Memoria , Recuerdo Mental , Represión Psicológica
7.
Environ Health ; 21(1): 30, 2022 03 07.
Artículo en Inglés | MEDLINE | ID: mdl-35255910

RESUMEN

BACKGROUND: The aetiology of neuroblastic tumours is likely to involve both genetic and environmental factors. A number of possible environmental risk factors have been suggested, including infection. If an irregular temporal pattern in incidence is found, this might suggest that a transient agent, such as an infection, is implicated. Previous work has found evidence for temporal clustering in children and young adults living in northern England. METHODS: We examined data from a second population-based registry from Ontario, Canada to determine whether there was evidence of temporal clustering of neuroblastic tumours. Cases diagnosed in children and young adults aged 0-19 years between 1985 and 2016 were extracted from the population-based Pediatric Oncology Group of Ontario Networked Information System (POGONIS). A modified version of the Potthoff-Whittinghill method was used to test for temporal clustering. Estimates of extra-Poisson variation (EPV) and standard errors (SE) were obtained. RESULTS: Eight hundred seventy-six cases of neuroblastic tumours were diagnosed during the study period. Overall, no evidence of temporal clustering was found between fortnights, between months or between quarters within years. However, significant EPV was found between years within the full study period (EPV = 1.05, SE = 0.25; P = 0.005). CONCLUSIONS: The findings are consistent with the possibility that a transient agent, such as an infection that is characterised by 'peaks and troughs' in its occurrence, might be implicated in the aetiology of neuroblastic tumours. However, this pattern may also reflect a long-term increase in the numbers of cases, rather than peaks and troughs.


Asunto(s)
Neoplasias , Niño , Análisis por Conglomerados , Inglaterra/epidemiología , Humanos , Incidencia , Lactante , Neoplasias/epidemiología , Ontario/epidemiología , Adulto Joven
8.
J Trauma Stress ; 35(3): 879-890, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35030294

RESUMEN

Many war survivors suffer from chronic posttraumatic stress disorder (PTSD). Unraveling the complexities of PTSD symptoms over time is crucial for understanding this condition. Going beyond a common pathogenic pathway perspective, we applied the network approach to psychopathology to analyze longitudinal data from war survivors with PTSD in five Balkan countries approximately 8 years after war in the region and a follow-up assessment 1 year later (N = 698). PTSD diagnosis was established using the Mini-International Neuropsychiatric Interview, and PTSD symptoms were assessed using the Impact of Events Scale-Revised. Undirected cross-sectional networks for baseline and follow-up revealed no differences in the overall connectivity between these two networks. The intrusion symptom "I had waves of strong feelings about it" had the strongest expected influence centrality. Directed cross-lagged panel network models indicated that hyperarousal symptoms predicted other PTSD symptoms from baseline to follow-up, whereas several avoidance symptoms were predicted by other PTSD symptoms. The findings underscore the importance of emotional reactions and further suggest that hyperarousal symptoms may influence other PTSD symptoms. Future research should investigate causality and associations between between-person and within-person networks.


Asunto(s)
Trastornos por Estrés Postraumático , Estudios Transversales , Humanos , Escalas de Valoración Psiquiátrica , Trastornos por Estrés Postraumático/psicología , Sobrevivientes/psicología
9.
J Trauma Stress ; 35(2): 434-445, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34750893

RESUMEN

When a traumatic experience is central to an individual's identity and worldview, it can result in either severe posttraumatic stress disorder (PTSD) symptoms, perceived posttraumatic growth (PTG), or, paradoxically, both. To resolve this apparent paradox, we used network analytic methods to estimate the relations among components of event centrality (EC), PTSD symptoms, and PTG in 1,136 undergraduates who had experienced trauma. Participants completed surveys on their experiences with traumatic events as well as the degree to which they experienced PTSD symptoms, components of EC, and components of PTG. We performed network analysis to examine EC, PTSD, and PTG and identify which components of EC were most conducive to its associations with PTSD versus those with PTG. We found that the components of EC most associated with PTSD, the extent to which trauma serves as a script for the future, were markedly distinct from the components associated with PTG, the extent to which trauma is seen as a turning point in one's life. The combined findings suggest that EC may be a catalyst for subsequent positive or negative effects contingent upon how an individual interprets the centrality of their traumatic experience.


Asunto(s)
Crecimiento Psicológico Postraumático , Trastornos por Estrés Postraumático , Adaptación Psicológica , Humanos , Trastornos por Estrés Postraumático/diagnóstico , Encuestas y Cuestionarios , Sobrevivientes
10.
Memory ; 30(1): 26-30, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-33435857

RESUMEN

Alarmingly high rates of sexual assault on campus have motivated American colleges and universities to take steps to address this serious problem. Yet university administrators have often felt ill-equipped to assess allegations of sexual assault. Unsurprisingly, they have sought the expertise of psychologists who can educate administrative staff about the complexities of traumatic memory. Dr. Rebecca Campbell is among the most influential figures teaching university administrators about sexual trauma and memory. The purpose of this article is to review research pertinent to her views on fragmentation of traumatic memories, and the possible roles of tonic immobility and alcohol consumption on how survivors of sexual assault recall their experience.


Asunto(s)
Delitos Sexuales , Trauma Sexual , Emociones , Femenino , Humanos , Universidades
11.
Memory ; 30(5): 658-660, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35392773

RESUMEN

Following the publication of his article on whether memories of trauma in sexual assault victims are fragmented (McNally, 2022), McNally moderated a discussion between Chris R. Brewin and David C. Rubin/Dorthe Berntsen whose perspectives on memory fragmentation were cited by McNally. The discussion clarified their contrasting viewpoints on this controversy.


Asunto(s)
Trauma Sexual , Humanos
12.
Annu Rev Clin Psychol ; 17: 31-53, 2021 05 07.
Artículo en Inglés | MEDLINE | ID: mdl-33228401

RESUMEN

Empirical publications inspired by the network approach to psychopathology have increased exponentially in the twenty-first century. The central idea that an episode of mental disorder arises from causal interactions among its symptomatic elements has especially resonated with those clinical scientists whose disenchantment with traditional categorical and dimensional approaches to mental illness has become all too apparent. As the field has matured, conceptual and statistical concerns about the limitations of network approaches to psychopathology have emerged, inspiring the development of novel methods to address these concerns. Rather than reviewing the vast empirical literature, I focus instead on the issues and controversies regarding this approach and sketch directions where the field might go next.


Asunto(s)
Trastornos Mentales , Trastornos Psicóticos , Humanos , Trastornos Mentales/diagnóstico , Psicopatología
13.
J Public Health (Oxf) ; 43(1): e45-e53, 2021 04 12.
Artículo en Inglés | MEDLINE | ID: mdl-32193561

RESUMEN

BACKGROUND: Epidemiological studies from Europe and North America have provided evidence that exposure to air pollution can aggravate symptoms in asthmatic patients. METHODS: Daily number of AEDv, air pollution levels (PM10, PM2.5, SO2, NO2 and CO) and meteorological variables was obtained from Jubail Industrial City, Saudi Arabia, for the period of 2007-11. Data were analyzed using a time-series approach. Relative risks (RRs) were estimated using Poisson regression. RESULTS: The associations between AEDv and PM10, PM2.5, SO2 and NO2 remained positive and statistically significant after mutual adjustment in the multi-pollutant model.The RR of AEDv increased by 5.4, 4.4, 3.4 and 2.2% per an inter-quartile range increase in SO2 (2.0 ppb), PM2.5 (36 µg/m3), NO2 (7.6 ppb) and PM10 (140 µg/m3), respectively. No significant associations between AEDv and CO were found. CONCLUSIONS: Current levels of ambient air pollution are associated with AEDv in this industrial setting in the Middle East. Greater awareness of environmental health protection and the implementation of effective measures to improve the quality of air in such settings would be beneficial to public health.


Asunto(s)
Contaminación del Aire , Asma , Contaminación del Aire/efectos adversos , Contaminación del Aire/análisis , Asma/epidemiología , Asma/etiología , Ciudades , Servicio de Urgencia en Hospital , Exposición a Riesgos Ambientales/efectos adversos , Exposición a Riesgos Ambientales/análisis , Humanos , Material Particulado/efectos adversos , Material Particulado/análisis , Arabia Saudita/epidemiología
14.
J Trauma Stress ; 34(3): 654-664, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33650190

RESUMEN

The centrality of a traumatic event to one's autobiographical memory has been associated with posttraumatic stress disorder (PTSD) symptom severity. In the present study, we investigated the associations between specific features of event centrality (EC), as measured using the Centrality of Event Scale, and specific symptoms of PTSD. We computed a cross-sectional graphical lasso network of PTSD symptoms and specific features of EC in a sample of trauma-exposed individuals (n = 451), many of whom met the clinical threshold for a PTSD diagnosis. The graphical lasso revealed intrusive memories, negative trauma-related feelings, and the perception that the traumatic event was central to one's identity to be influential nodes. Viewing the future through the lens of one's trauma exposure was the EC feature most strongly linked to PTSD. Among all PTSD symptoms, blaming oneself or others for the traumatic event showed the strongest link to EC. The network was stable, allowing for reliable interpretations. Future longitudinal research is needed to clarify the associations among EC features and PTSD symptoms over time.


Asunto(s)
Memoria Episódica , Trastornos por Estrés Postraumático , Estudios Transversales , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Emociones , Humanos , Trastornos por Estrés Postraumático/diagnóstico
15.
Multivariate Behav Res ; 56(2): 353-367, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-31179765

RESUMEN

Recently, researchers in clinical psychology have endeavored to create network models of the relationships between symptoms, both within and across mental disorders. Symptoms that connect two mental disorders are called "bridge symptoms." Unfortunately, no formal quantitative methods for identifying these bridge symptoms exist. Accordingly, we developed four network statistics to identify bridge symptoms: bridge strength, bridge betweenness, bridge closeness, and bridge expected influence. These statistics are nonspecific to the type of network estimated, making them potentially useful in individual-level psychometric networks, group-level psychometric networks, and networks outside the field of psychopathology such as social networks. We first tested the fidelity of our statistics in predicting bridge nodes in a series of simulations. Averaged across all conditions, the statistics achieved a sensitivity of 92.7% and a specificity of 84.9%. By simulating datasets of varying sample sizes, we tested the robustness of our statistics, confirming their suitability for network psychometrics. Furthermore, we simulated the contagion of one mental disorder to another, showing that deactivating bridge nodes prevents the spread of comorbidity (i.e., one disorder activating another). Eliminating nodes based on bridge statistics was more effective than eliminating nodes high on traditional centrality statistics in preventing comorbidity. Finally, we applied our algorithms to 18 group-level empirical comorbidity networks from published studies and discussed the implications of this analysis.


Asunto(s)
Trastornos Mentales , Algoritmos , Comorbilidad , Humanos , Trastornos Mentales/epidemiología , Psicometría , Tamaño de la Muestra
16.
Multivariate Behav Res ; 56(2): 249-255, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32731766

RESUMEN

Forbes, Wright, Markon, and Krueger claim that psychopathology network characteristics have "limited" or "poor" replicability, supporting their argument primarily with data from two waves of an observational study on depression and anxiety. They developed "direct metrics" to gauge change across networks (e.g., change in edge sign), and used these results to support their conclusion. Three key flaws undermine their critique. First, nonreplication across empirical datasets does not provide evidence against a method; such evaluations of methods are possible only in controlled simulations when the data-generating model is known. Second, they assert that the removal of shared variance necessarily decreases reliability. This is not true. Depending on the causal model, it can either increase or decrease reliability. Third, their direct metrics do not account for normal sampling variability, leaving open the possibility that the direct differences between samples are due to normal, unproblematic fluctuations. As an alternative to their direct metrics, we provide a Bayesian re-analysis that quantifies uncertainty and compares relative evidence for replication (i.e., equivalence) versus nonreplication (i.e., nonequivalence) for each network edge. This approach provides a principled roadmap for future assessments of network replicability. Our analysis indicated substantial evidence for replication and scant evidence for nonreplication.


Asunto(s)
Ansiedad , Proyectos de Investigación , Teorema de Bayes , Reproducibilidad de los Resultados , Incertidumbre
17.
J Clin Psychol ; 77(1): 254-267, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-32662088

RESUMEN

OBJECTIVE: Emotional or psychological pain is a core symptom of complicated grief (CG), yet its correlates are largely unexamined among bereaved individuals. METHOD: Bereaved adults (N = 135) completed self-reports regarding psychological pain, CG, depression, and suicidality. We assessed correlations among these variables and tested whether psychological pain was elevated among individuals with CG and individuals with current or past suicidal thoughts and behaviors. Using logistic regression, we also assessed psychological pain, depression, and CG symptom severity as predictors of suicide risk. RESULTS: Psychological pain was strongly associated with both CG and depression severity and was elevated among subjects reporting current or past suicidality. CG and depression were not statistically significant predictors of suicidal ideation after accounting for the effects of psychological pain. CONCLUSIONS: Psychological pain is strongly associated with bereavement-related psychopathology and warrants further investigation in studies examining the nature and treatment of CG.


Asunto(s)
Aflicción , Suicidio , Adulto , Depresión , Pesar , Humanos , Dolor
18.
Nature ; 508(7494): 98-102, 2014 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-24670643

RESUMEN

Changes in gene dosage are a major driver of cancer, known to be caused by a finite, but increasingly well annotated, repertoire of mutational mechanisms. This can potentially generate correlated copy-number alterations across hundreds of linked genes, as exemplified by the 2% of childhood acute lymphoblastic leukaemia (ALL) with recurrent amplification of megabase regions of chromosome 21 (iAMP21). We used genomic, cytogenetic and transcriptional analysis, coupled with novel bioinformatic approaches, to reconstruct the evolution of iAMP21 ALL. Here we show that individuals born with the rare constitutional Robertsonian translocation between chromosomes 15 and 21, rob(15;21)(q10;q10)c, have approximately 2,700-fold increased risk of developing iAMP21 ALL compared to the general population. In such cases, amplification is initiated by a chromothripsis event involving both sister chromatids of the Robertsonian chromosome, a novel mechanism for cancer predisposition. In sporadic iAMP21, breakage-fusion-bridge cycles are typically the initiating event, often followed by chromothripsis. In both sporadic and rob(15;21)c-associated iAMP21, the final stages frequently involve duplications of the entire abnormal chromosome. The end-product is a derivative of chromosome 21 or the rob(15;21)c chromosome with gene dosage optimized for leukaemic potential, showing constrained copy-number levels over multiple linked genes. Thus, dicentric chromosomes may be an important precipitant of chromothripsis, as we show rob(15;21)c to be constitutionally dicentric and breakage-fusion-bridge cycles generate dicentric chromosomes somatically. Furthermore, our data illustrate that several cancer-specific mutational processes, applied sequentially, can coordinate to fashion copy-number profiles over large genomic scales, incrementally refining the fitness benefits of aggregated gene dosage changes.


Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 21/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Cromátides/genética , Rotura Cromosómica , Cromosomas Humanos Par 15/genética , Variaciones en el Número de Copia de ADN/genética , Humanos , Recombinación Genética/genética , Translocación Genética/genética
19.
Int J Eat Disord ; 53(3): 362-371, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31749199

RESUMEN

OBJECTIVE: Eating disorders (EDs) are complex, heterogeneous, and severe psychiatric syndromes. They are highly comorbid with obsessive-compulsive disorder (OCD) which exacerbates the course of illness and impedes treatment. However, the direct functional relations between EDs and OCD symptoms remain largely unexplored. Hence, using network analysis, we investigated the relationship between ED and OCD at the level of symptoms in a heterogeneous clinical sample. METHOD: We used cross sectional data of 303 treatment-seeking patients with clinically relevant ED and OCD pathology. We constructed a regularized partial correlation network that featured both ED and OCD symptoms as nodes. To determine each symptom's influence, we calculated expected influence (EI) as an index of symptom centrality (i.e., "importance"). Bridge symptoms (i.e., symptoms from one syndromic cluster that have strong connections to symptoms of another syndromic cluster) were identified by computing bridge expected influence metrics. RESULTS: Fear of weight gain and dietary restraint were especially important among the ED symptoms. Interference due to obsessions was the key feature of OCD. ED and OCD clustered distinctly with few potential bridges between clusters. DISCUSSION: This study underscores the importance of cognitive symptoms for both ED and OCD although direct functional links between the two clusters are missing. Potentially, a network incorporating nodes capturing features of personality may account for diagnostic comorbidity better than specific symptoms of EDs or features of OCD do.


Asunto(s)
Trastornos de Alimentación y de la Ingestión de Alimentos/complicaciones , Trastorno Obsesivo Compulsivo/epidemiología , Adolescente , Adulto , Anciano , Comorbilidad , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
20.
J Clin Densitom ; 23(3): 418-425, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31160147

RESUMEN

The Mr F study investigates the pathogenesis of low trauma distal forearm fractures in men and includes volumetric bone mineral density (vBMD) measurements at the ultradistal forearm as there are no current data. A standard 64 slice CT scanner was used to determine if it was possible to adapt the existing Mindways quantitative computed tomography Pro software for measuring vBMD values at the hip and spine sites. For calculation of intra- and interobserver reliability 40 forearm scans out of the 300 available were chosen randomly. The images were analyzed using the Slice Pick module and Bone Investigational Toolkit. The 4% length of the radius was chosen by measuring the length of the radius from the scaphoid fossa distally to the radial head. The acquired image then underwent extraction, isolation, rotation, and selection of region of interest in order to generate a report on vBMD. A cross-sectional image was created to allow the generation of data on the cortical and trabecular components separately. Repeat analyses were undertaken by 3 independent observers who were blinded as to whether the image was from a participant with or without fracture. The images were presented in random order at each time point. The following parameters were recorded: cortical cross sectional area, total vBMD, trabecular vBMD, and cortical vBMD (CvBMD). Data were analyzed by calculating intraclass correlation coefficients for intra- and interobserver reliability. The lowest values occurred at the CvBMD with intraobserver reliability of 0.92 (95% confidence interval [CI] of 0.86-0.96) and interobserver reliability of 0.92 (95% CI 0.89-0.96). All other parameters had reliability values between 0.97 and 0.99 with tighter 95% CI than for CvBMD. The method of adapting the Mindways Pro software using a standard CT to produce vBMD and structural data at the ultradistal radius is reliable.


Asunto(s)
Densidad Ósea , Hueso Esponjoso/diagnóstico por imagen , Hueso Cortical/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/métodos , Osteoporosis/diagnóstico por imagen , Radio (Anatomía)/diagnóstico por imagen , Programas Informáticos , Tomografía Computarizada Espiral/métodos , Cúbito/diagnóstico por imagen , Anciano , Traumatismos del Antebrazo , Humanos , Masculino , Persona de Mediana Edad , Fracturas Osteoporóticas/diagnóstico por imagen , Fracturas del Radio/diagnóstico por imagen , Reproducibilidad de los Resultados , Tomógrafos Computarizados por Rayos X , Tomografía Computarizada Espiral/instrumentación , Fracturas del Cúbito/diagnóstico por imagen
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