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2.
J Forensic Leg Med ; 38: 64-9, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26708351

RESUMEN

INTRODUCTION: In 2012, the American College of Emergency Physicians (ACEP) reaffirmed that domestic violence is a serious public health hazard that emergency medical services (EMS) personnel will encounter. Many victims of domestic violence may refuse transport to the hospital, making EMS prehospital field personnel --EMTs and paramedics-- their only contact with healthcare providers. Despite these facts, the interaction of field EMS personnel and victims of domestic violence remains largely unexamined. OBJECTIVES: Given the importance of the interaction of field EMS personnel have with victims of domestic violence, the goal of this study is to explore attitudes about and experiences of EMS personnel on the issue of domestic violence after completing a training on domestic violence. METHODS: Participants were recruited by researchers contacting multiple EMS agencies. Data were gathered using a survey attached to an online domestic violence training for field EMS personnel (EMTs and paramedics) circulated in a large southern state. Participants were able to obtain continuing education credits for completing the online modules. RESULTS: A total of 403 respondents completed the survey. 71% of respondents indicated that they frequently encounter patients who disclose domestic violence; 45% believe that if a victim does not disclose abuse, there is little they can do to help; and from 32% to 43% reported assumptions and attitudes that indicate beliefs that victims are responsible for the abuse. CONCLUSIONS: Implications of the data are discussed suggesting that EMS providers are aware that they frequently assist victims of domestic violence, yet many continue to endorse common myths and negative attitudes about victims. Core components of training that can educate EMS personnel about the dynamics of domestic violence are described, and a new free online training for medical professionals on domestic violence is offered for use as part of ongoing education to enhance the EMS response to victims.


Asunto(s)
Técnicos Medios en Salud , Actitud del Personal de Salud , Violencia Doméstica , Auxiliares de Urgencia , Adolescente , Adulto , Víctimas de Crimen , Femenino , Florida , Humanos , Capacitación en Servicio , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Encuestas y Cuestionarios , Adulto Joven
3.
Genet Med ; 17(2): 149-57, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25077648

RESUMEN

PURPOSE: Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions including intellectual disability, autism, epilepsy, and schizophrenia. However, the 15q13.3 microdeletion syndrome remains ill-defined. METHODS: We systematically compiled all cases of 15q13.3 deletion published before 2014. We also examined three locally available cohorts to identify new adults with 15q13.3 deletions. RESULTS: We identified a total of 246 cases (133 children, 113 adults) with deletions overlapping or within the 15q13.3 (breakpoint (BP)4-BP5) region, including seven novel adult cases from local cohorts. No BP4-BP5 deletions were identified in 23,838 adult controls. Where known, 15q13.3 deletions were typically inherited (85.4%) and disproportionately of maternal origin (P < 0.0001). Overall, 198 cases (121 children, 77 adults; 80.5%) had at least one neuropsychiatric diagnosis. Accounting for ascertainment, developmental disability/intellectual disability was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and attention deficit hyperactivity disorder in 6.5%. By contrast, major congenital malformations, including congenital heart disease (2.4%), were uncommon. Placenta previa occurred in the pregnancies of four cases. CONCLUSION: The 15q13.3 microdeletion syndrome is predominantly characterized by neuropsychiatric expression. There are implications for pre- and postnatal detection, genetic counseling, and anticipatory care.


Asunto(s)
Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/etiología , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/etiología , Fenotipo , Convulsiones/diagnóstico , Convulsiones/etiología , Adulto , Anciano , Puntos de Rotura del Cromosoma , Deleción Cromosómica , Trastornos de los Cromosomas/epidemiología , Cromosomas Humanos Par 15 , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Homocigoto , Humanos , Patrón de Herencia , Discapacidad Intelectual/epidemiología , Masculino , Persona de Mediana Edad , Linaje , Placenta Previa , Embarazo , Prevalencia , Convulsiones/epidemiología
4.
Mol Cytogenet ; 7(1): 23, 2014 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-24650298

RESUMEN

BACKGROUND: The emerging 3q13.31 microdeletion syndrome appears to encompass diverse neurodevelopmental conditions. However, the 3q13.31 deletion is rare and few adult cases have yet been reported. We examined a cohort with schizophrenia (n = 459) and adult control subjects (n = 26,826) using high-resolution microarray technology for deletions and duplications at the 3q13.31 locus. RESULTS: We report on the extended adult phenotype associated with a 3q13.31 microdeletion in a 41-year-old male proband with schizophrenia and a nonverbal learning disability. He was noted to have a speech impairment, delayed motor skills, and other features consistent with the 3q13.31 microdeletion syndrome. The 2.06 Mb deletion overlapped two microRNAs and seven RefSeq genes, including GAP43, LSAMP, DRD3, and ZBTB20. No overlapping 3q13.31 deletions or duplications were identified in control subjects. CONCLUSIONS: Later-onset conditions like schizophrenia are increasingly associated with rare copy number variations and associated genomic disorders like the 3q13.31 microdeletion syndrome. Detailed phenotype information across the lifespan facilitates genotype-phenotype correlations, accurate genetic counselling, and anticipatory care.

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