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1.
Burns ; 49(7): 1487-1524, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37839919

RESUMO

INTRODUCTION: The Surviving Sepsis Campaign was developed to improve outcomes for all patients with sepsis. Despite sepsis being the primary cause of death after thermal injury, burns have always been excluded from the Surviving Sepsis efforts. To improve sepsis outcomes in burn patients, an international group of burn experts developed the Surviving Sepsis After Burn Campaign (SSABC) as a testable guideline to improve burn sepsis outcomes. METHODS: The International Society for Burn Injuries (ISBI) reached out to regional or national burn organizations to recommend members to participate in the program. Two members of the ISBI developed specific "patient/population, intervention, comparison and outcome" (PICO) questions that paralleled the 2021 Surviving Sepsis Campaign [1]. SSABC participants were asked to search the current literature and rate its quality for each topic. At the Congress of the ISBI, in Guadalajara, Mexico, August 28, 2022, a majority of the participants met to create "statements" based on the literature. The "summary statements" were then sent to all members for comment with the hope of developing an 80% consensus. After four reviews, a consensus statement for each topic was created or "no consensus" was reported. RESULTS: The committee developed sixty statements within fourteen topics that provide guidance for the early treatment of sepsis in burn patients. These statements should be used to improve the care of sepsis in burn patients. The statements should not be considered as "static" comments but should rather be used as guidelines for future testing of the best treatments for sepsis in burn patients. They should be updated on a regular basis. CONCLUSION: Members of the burn community from the around the world have developed the Surviving Sepsis After Burn Campaign guidelines with the goal of improving the outcome of sepsis in burn patients.


Assuntos
Queimaduras , Sepse , Choque Séptico , Humanos , Choque Séptico/terapia , Queimaduras/complicações , Queimaduras/terapia , Sepse/terapia , Cuidados Críticos , Hidratação
2.
Cureus ; 15(2): e34704, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36909082

RESUMO

Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix, are frequently the culprit of muscular dystrophies. In this case report, we describe a patient with a novel pathogenic dystrophin mutation co-existing with a caveolin-3 deletion. While genetically composed of this unique combination, the patient phenotypically presented with a primary clinical manifestation of Duchenne muscular dystrophy (DMD) in contrast to other cases of dual mutations in dystrophin and dystrophin-associated proteins.

3.
Ene ; 17(1)2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-226713

RESUMO

Objetivo: Se propuso el índice de Barthel (IB) como método rápido y fácil para detectar a pacientes potencialmente frágiles que se pudieran beneficiar de estrategias específicas para ellos. Méto do: Para ello se seleccionó una muestra a partir de los pacientes mayores de 65 años que acudían al servicio de urgen cias. Se realizó un estudio descriptivo en el que se recogió, entre otras variables sociodemográficas, el IB. A lo largo de 9 meses se recogió el número de hospita lizaciones, de readmisiones a urgencias y si el paciente falleció durante este tiempo. Se realizó test de contraste de hipótesis: Chi Cuadrado y regresión lo gística para la asociación entre las varia bles que mostraron significación estadís tica en el análisis bivariante. Las odd ra tios(OR) se usaron para evaluar la aso ciación del IB mayor o menor de 60 con las variables de resultado. Se consideró significación estadística cuando la p <0.05 Se estudió la supervivencia por medio de modelo de regresión de Cox. Conclusiones: El IB está relacionado con una mayor mortalidad y hospitalización a corto y medio plazo. Se propone el IB como herramienta de cribado del pacien te potencialmente frágil en los servicios de urgencias, llevado a cabo por profe sionales de enfermería, a los pacientes mayores de 65 años (AU)


The present manuscript proposes Barthel Index (BI) as quickly and easy case management of potentially frail el derly. Method: A sample of patients over the age of 65 was collected at the emer gency room. A descriptive study was ca rried out in which, among other sociode mographic variables, the BI was collec ted. A descriptive study was conducted that included the IB as one of other so cio-demographic and clinical variables. The number of hospitalizations, readmis sions to the emergency department (ED), and whether the patient died during that period were collected over nine months. Results: The total number of patients was 591. 17.4% died by the end of moni toring 41.9% of the sample returned to the ED at least once and 48.9% were hospitalized at least once during that pe riod. 40.9% of the sample were indepen dent and 27.3% had severe or total de pendence, according to the IB. Statistical significance was found between IB and mortality at 3, 6 and 9 months. Patients with Barthel 60 had 3.55 (2.40, 5.23) ti mes more risk of mortality than patients with >60. Conclusions: IB is associated to mortality and hospitalization at short term. It is proposed to implement the use of IB as a fragility prediction tool in ED, provided by nursing professionals to pa tients over the age of 65 (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso de 80 Anos ou mais , Idoso Fragilizado , Serviços Médicos de Emergência , Cuidados de Enfermagem , Estudos Prospectivos
4.
Gerokomos (Madr., Ed. impr.) ; 34(2): 91-95, 2023. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-221839

RESUMO

Objetivos: La polifarmacia es un concepto ampliamente utilizado en la práctica clínica. Sin embargo, no existe unanimidad en el punto de corte. De lo que sí hay evidencia es que a mayor número de medicamentos los pacientes pueden presentar mayor número de eventos adversos y menor adherencia terapéutica. El objetivo de este estudio es analizar la relación entre la polifarmacia —entendida como 10 medicamentos o más— en los pacientes mayores de 65 años atendidos en urgencias y la mortalidad, la hospitalización y la readmisión en urgencias. Metodología: Estudio descriptivo retrospectivo de 591 pacientes, en el que se realiza estadística univariante, bivariante y multivariante estableciendo una p < 0,05. Resultados: Se encontró asociación estadísticamente significativa entre la polifarmacia y la mortalidad y la hospitalización tanto a 3, 6 como a 9 meses. También se encontró asociación con la readmisión en urgencias a los 6 y los 9 meses. De estas asociaciones, los datos fueron de forma especial clínicamente relevantes en la asociación entre la polifarmacia y la mortalidad, tanto a corto como a medio plazo. Los pacientes con polifarmacia tuvieron 1,66 (1,12-2,44) veces más riesgo que los pacientes sin polifarmacia. Conclusiones: La polifarmacia, entendida como 10 o más fármacos, es un óptimo punto de corte para detectar a pacientes mayores de 65 años de alto riesgo en urgencias. La selección de estos pacientes puede ayudar al clínico a tomar decisiones, a optimizar el tratamiento y a la inclusión en programas específicos para estos pacientes de alto riesgo (AU)


Objectives: Polypharmacy is a widely used concept in clinical practice. However, there are a lot of cut point in literature. There are a lot of evidence about the fact of a greater number of medications, patients may present a greater number of adverse events and less therapeutic adherence. The objective of this study is to analyze association between polypharmacy —as 10 medications or more— in elderly patients (> 65 years) attended in the emergency department (ED), with mortality, hospitalization and readmission in ED. Methodology: Retrospective descriptive study of 591 patients in which univariate, bivariate and multivariate statistics were performed, establishing a p < 0.05. Results: There are significant association between polypharmacy and mortality and hospitalization at 3, 6 and 9 months. There are association with readmission to ED at 6 and 9 months too. These data are clinically relevant in the association between polypharmacy and mortality, both short and medium term. Patients with polypharmacy obtained 1.66 (1.12, 2.44) times more risk than patients without polypharmacy. Conclusions: Polypharmacy, as 10 or more drugs, is an optimal cut-off point to detect high-risk patients over 65 years old in ED. The selection of these patients could help to make decisions in the clinical practice, optimize treatment and promote the inclusion of this patients in highrisk specific programs (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Idoso Fragilizado/estatística & dados numéricos , Serviço Hospitalar de Emergência , Polimedicação , Mortalidade Hospitalar , Estudos Retrospectivos
5.
Biomedicines ; 10(2)2022 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-35203644

RESUMO

(1) Background: COVID-19 infection is responsible for the ongoing pandemic and acute cerebrovascular disease (CVD) has been observed in COVID-19 patients. (2) Methods: We conducted a retrospective, observational study of hospitalized adult patients admitted to our hospital with SARS-CoV-2 and acute cerebrovascular disease. All clinical data were reviewed including epidemiology, clinical features, laboratory data, neuroradiological findings, hospital management and course from 32 patients hospitalized for COVID-19 management with acute cerebrovascular disease. (3) Results: Acute CVD with COVID-19 was associated with higher NIH stroke scale on discharge compared to non-COVID-19 CVDs. Seizures complicated the hospital course in 16% of COVID-19 patients with CVD. The majority of the acute CVDs were ischemic (81%) in nature followed by hemorrhagic (22%). Acute CVD with COVID-19 resulted in average hospital stays greater than twice that of the control group (13 days in COVID-19, 5 days in control). Acute CVD with COVID-19 patients had worse clinical outcomes with 31% patient deaths and 6% discharged to hospice. In the control group, 6% of patients died. (4) Conclusions: Acute CVD associated with COVID-19 tends to be more complicated with unique and adverse clinical phenotype, longer hospital admissions, and worse clinical outcomes.

6.
Occup Environ Med ; 79(5): 295-303, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34599009

RESUMO

OBJECTIVES: To study prevalence of infection in essential workers of Madrid City Council by occupation, related characteristics, use of protective devices, risk perception, and main concerns about COVID-19 during lockdown. METHODS: A total of 30 231 workers were PCR tested for SARS-CoV-2 infection. Information was collected on COVID-19-related symptoms, risk factors, preventive equipment, and risk perception. The crude prevalence was calculated for infection, use of protective devices, perceived risk and main concerns. Additionally, adjusted prevalence and prevalence ratios (PR) were estimated for these variables using logistic regression models with age, gender, occupation, epidemiological week and laboratory as confounding factors. RESULTS: Overall prevalence of infection was 3.2% (95% CI 3.0% to 3.4%), being higher among policemen (4.4%) and bus drivers (4.2%), but lower among emergency healthcare personnel, firefighters, food market workers and burial services (<2%). Lower excess risk was observed in workers reporting occupational contact with COVID-19 cases only (PR=1.42; 95% CI 1.18 to 1.71) compared with household exposure only (PR=2.75; 95% CI 2.32 to 3.25). Infection was more frequent in symptomatic workers (PR=1.28; 95% CI 1.11 to 1.48), although 42% of detected infections were asymptomatic. Use of facial masks (78.7%) and disinfectants (86.3%) was common and associated with lower infection prevalence (PRmasks=0.68; 95% CI 0.58 to 0.79; PRdisinfectants=0.75; 95% CI 0.61 to 0.91). Over 50% of workers felt being at high risk of infection and worried about infecting others, yet only 2% considered quitting their work. CONCLUSIONS: This surveillance system allowed for detecting and isolating SARS-CoV-2 cases among essential workers, identifying characteristics related to infection and use of protective devices, and revealing specific needs for work-safety information and psychological support.


Assuntos
COVID-19 , Desinfetantes , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Pessoal de Saúde , Humanos , SARS-CoV-2 , Espanha/epidemiologia
7.
J Vasc Access ; 23(1): 135-144, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33356810

RESUMO

BACKGROUND: A vascular access team (VAT) was created in 2018 with the aim of improving vascular access and reducing complications associated with catheters. The impact of the introduction of a VAT in the insertion and maintenance of peripheral insertion central catheters (PICCs) was assessed. The cost-benefit associated with the use of a VAT was evaluated and the satisfaction of patients and professionals interacting with the VAT was measured. METHODS: In a prospective study, 275 PICCs inserted by the VAT were assessed for their impact on complications. PICCs were implanted with maximum barrier measures using an ultrasound with IC-ECG. Also, patient and professional satisfaction have been analysed thought a questionnaire over the phone or online, and hospital financial data was used to assess the cost impact of the insertion methodology followed by the VAT versus Anaesthesia Service. RESULTS: The thrombosis rate was 2.5% (7) and the bacteraemia rate was 1.1% (3). The use of the IC-ECG was correlated with a lower complication than the RX + IC-ECG (OR = 3.28, p = 0.021). In addition, there was a high level of perceived satisfaction for the patients surveyed and for the healthcare professionals involved in the care and management of these devices. The calculated saving for the implementation of the VAT was 61.81% compared with PICCs implanted in Anaesthesia Service. CONCLUSION: Low complication rates and high overall satisfaction scores in patients and professionals were observed, showing that a specialist VAT can have a positive impact in the insertion of PICCs and which also has a clear economic benefit.


Assuntos
Cateterismo Venoso Central , Cateterismo Periférico , Cateterismo Venoso Central/efeitos adversos , Cateterismo Venoso Central/métodos , Cateterismo Periférico/efeitos adversos , Análise Custo-Benefício , Humanos , Estudos Prospectivos
8.
Artigo em Inglês | MEDLINE | ID: mdl-33419267

RESUMO

BACKGROUND: The new characteristics of today's population, together with the presence of chronic diseases in the elderly, require a new approach to care, promoting coordination between different levels of care. In this sense, we find the figure of the nurse case manager (NCM) in primary health care mainly responsible for ensuring continuity of care in complex patients with chronic diseases. OBJECTIVE: to describe the role of the NCM in care management, determining its effectiveness in addressing chronic disease (health outcomes and quality of life) and its efficiency in the health system. METHODS: Bibliographic review of scientific evidence on case management applied to nursing. Between March and April 2020 a bibliographic search was carried out in the Dialnet, Scielo, Scopus and Pubmed databases. INCLUSION CRITERIA: articles written in the last 5 years, which analyze how this nursing rol influences the care and health of patients. RESULTS: A total of 16 articles were selected. The NCM reduced the use of the emergency department, hospital admissions, readmissions, and the duration of these in the patients studied. CONCLUSION: The NCM is effective and efficient for both patients and health institutions, and a common practice model is needed that includes standardized protocols and evidence-based practices.


Assuntos
Administração de Caso , Atenção Primária à Saúde , Adolescente , Adulto , Idoso , Doença Crônica , Estudos Transversais , Feminino , Seguimentos , Humanos , Qualidade de Vida
9.
Neuroimage Clin ; 24: 102072, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31734529

RESUMO

Epilepsy, including the type with focal onset, is increasingly viewed as a disorder of the brain network. Here we employed the functional connectivity (FC) metrics estimated from the resting state functional MRI (rsfMRI) to investigate the changes of brain network associated with focal epilepsy caused by single cerebral cavernous malformation (CCM). Eight CCM subjects and 21 age and gender matched controls were enrolled in the study. Seven of 8 CCM subjects underwent surgical resection of the CCM and became seizure free and 4 of the surgical subjects underwent a repeat rsfMRI study. We showed that there was both regional and global disruption of the FC values among the CCM subjects including decreased in homotopic FC (HFC) and global FC (GFC) in the regions of interest (ROIs) where the CCMs were located. There was also the disruption of the default mode network (DMN) especially the FC between the middle prefrontal cortex (MPFC) and the right lateral parietal cortex (LPR) among these individuals. We observed the trend of alleviation of these disruptions after the individual has become seizure free from the surgical resection of the CCM. Using a voxel-based approach, we found the disruption of the HFC and GFC in the brain tissue immediately adjacent to the CCM and the severity of the disruption appeared inversely proportional to the distance of the brain tissue to the lesion. Our findings confirm the disruption of normal brain networks from focal epilepsy, a process that may be reversible with successful surgical treatments rendering patients seizure free. Some voxel-based metrics may help identify the epileptogenic zone and guide the surgical resection.


Assuntos
Encéfalo/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Epilepsias Parciais/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Vias Neurais/diagnóstico por imagem , Adolescente , Adulto , Idoso , Encéfalo/fisiopatologia , Encéfalo/cirurgia , Estudos de Casos e Controles , Neoplasias do Sistema Nervoso Central/complicações , Neoplasias do Sistema Nervoso Central/fisiopatologia , Neoplasias do Sistema Nervoso Central/cirurgia , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsias Parciais/etiologia , Epilepsias Parciais/fisiopatologia , Epilepsias Parciais/cirurgia , Feminino , Neuroimagem Funcional , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/fisiopatologia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Vias Neurais/fisiopatologia , Procedimentos Neurocirúrgicos , Adulto Jovem
10.
Rev. Rol enferm ; 41(9): 568-576, sept. 2018. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-179697

RESUMO

Introducción: El uso de Catéteres Centrales de Inserción Periférica (PICC) ha ido creciendo en la práctica clínica debido a la preocupación por incrementar la seguridad del paciente, la facilidad de implantación de dichos dispositivos y el número reducido de complicaciones que presentan. Con ello ha aumentado también la necesidad de crear Equipos de Terapia Intravenosa (ETI) para potenciar la implantación de prácticas adecuadas. El Complejo Hospitalario de Navarra (CHN) ha creado una Unidad de Terapia Intravenosa (UTI) respaldada por un equipo multidisciplinar desde enero de 2018. Objetivo: Presentar antecedentes, la trayectoria, la implantación y los resultados de la Unidad de Terapia Intravenosa (UTI) en el CHN. Material y método: Se presenta una descripción de la trayectoria de creación e implantación de la UTI en el CHN y su funcionamiento durante un periodo de 3 meses (enero-marzo de 2018). Resultados: En el año 2015 el CHN se incorporó al proyecto BPSO(R) con la implantación de la guía «Cuidados y mantenimiento de los accesos vasculares para reducir las complicaciones». A partir de las recomendaciones de dicha guía para la organización se trabajó para la creación de la Unidad de Terapia Intravenosa. Desde el inicio de su actividad, la UTI ha implantado un total de 136 dispositivos entre catéteres PICC y líneas medias, siendo la gran mayoría PICC (113) frente a 23 líneas medias. Discusión: Se ha conseguido proporcionar cuidados de calidad a los usuarios de este tipo de dispositivos. Ha mejorado su calidad de vida, se han evitado las punciones continuas, se ha preservado su capital venoso y ha disminuido la hospitalización convencional. Conclusión: Se reafirma la necesidad de formar profesionales especializados en colocación, cuidado y mantenimiento de accesos vasculares como el PICC


Introduction: The use of Peripheral Insertion Central Catheters (PICC), has been growing in clinical practice due to the concern to increase the safety of the patient, the ease of implantation of said devices and the reduced number of complications they present and with it the need to create Intravenous Therapy Teams (ITT) to promote the implementation of appropriate practices. The Hospital Center of Navarra (HCN) has created an Intravenous Therapy Unit (ITU), supported by a multidisciplinary team since January 2018. Objective: Present background, trajectory, implementation and results of the ITU in the HCN. Material and method: A description of the trajectory of creation and implantation of the ITU in the CHN, and its operation during a period of 3 months (January-March 2018) is presented. Results: In 2015, the HCN joined the BPSO(R) Project with the implementation of the guide «Care and maintenance of vascular acces to reduce complications». From the recomendation of this guide for the organization we worked for the creation of the Intravenous Therapy Unit. Since the beginning of its activity, the ITU has implanted a total of 136 devices between PICC and midline catheters, with the vast majority being PICC (113) compared to 23 midlines. Discussion: We have managed to provide quality care to users of this type of device, improving their quality of life, avoiding continuous punctures, preserving their venous capital and reducing conventional hospitalization. Conclusion: The need to form specialized professionals in placement, care and maintenance of vascular accesses such as the PICC is reaffirmed


Assuntos
Humanos , Administração Intravenosa/métodos , Dispositivos de Acesso Vascular , Cateterismo Venoso Central/métodos , Cateterismo Periférico/métodos , Unidades Hospitalares/organização & administração , Cateterismo Venoso Central/enfermagem , Cateterismo Periférico/enfermagem , Infecções Relacionadas a Cateter/prevenção & controle
11.
Clin Neurol Neurosurg ; 158: 82-89, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28500925

RESUMO

OBJECTIVES: Prior to enactment of the Affordable Care Act(ACA), several reports demonstrated remarkable racial disparities in access to surgical care for epileptic patients. Implementation of ACA provided healthcare access to 7-16 million uninsured Americans. The current study investigates racial disparity post ACA era in (1) access to surgical management of drug-resistant temporal lobe epilepsy (DRTLE); (2) short-term outcomes in the surgical cohort. PATIENT AND METHODS: Adult patients with DRTLE registered in the National Inpatient Sample (2012-2013) were identified. Association of race (African Americans and other minorities with respect to Caucasians) with access to surgical management of TLE, and short-term outcomes [discharge disposition, length of stay (LOS) and hospital charges] in the surgical cohort were investigated using multivariable regression techniques. RESULTS: Of the 4062 patients with DRTLE, 3.6%(n=148) underwent lobectomy. Overall, the mean age of the cohort was 42.35±16.33years, and 54% were female. Regression models adjusted for patient demographics, clinical and hospital characteristics demonstrated no racial disparities in access to surgical care for DRTLE. Likewise, no racial disparity was noted in outcomes in the surgical cohort. CONCLUSION: Our study reflects no racial disparity in access to surgical care in patients with DRTLE post 2010 amendment of the ACA. The seismic changes to the US healthcare system may plausibly have accounted for addressing the gap in racial disparity for epilepsy surgery.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Disparidades em Assistência à Saúde/estatística & dados numéricos , Procedimentos Neurocirúrgicos/estatística & dados numéricos , Patient Protection and Affordable Care Act/estatística & dados numéricos , Adulto , Lobectomia Temporal Anterior/estatística & dados numéricos , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estados Unidos , Adulto Jovem
12.
J Clin Neurophysiol ; 33(4): 320-3, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27482791

RESUMO

This revision to the EEG Guidelines is an update incorporating the current electroencephalography technology and practice. It was previously published as Guideline 2. Similar to the prior guideline, it delineates the aspects of Guideline 1 that should be modified for neonates and young children. Recording conditions for photic stimulation and hyperventilation are revised to enhance the provocation of epileptiform discharges. Revisions recognize the difficulties involved in performing an EEG under sedation in young children. Recommended neonatal EEG montages are displayed for the reduced set of electrodes only since the montages in Guideline 3 should be used for a 21-electrode 10-20 system array. Neonatal documentation is updated to use current American Academy of Pediatrics term "postmenstrual age" rather than "conceptional age." Finally, because therapeutic hypothermia alters the prognostic value of neonatal EEG, the necessity of documenting the patient's temperature at the time of recording is emphasized.


Assuntos
Eletroencefalografia/normas , Neurofisiologia/normas , Pediatria/normas , Guias de Prática Clínica como Assunto/normas , Sociedades Médicas/normas , Criança , Humanos , Estados Unidos
13.
World Neurosurg ; 93: 120-6, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27283183

RESUMO

BACKGROUND: Psammoma bodies (PBs) are whorled, laminated hyaline spherules containing calcium deposits. Intracranially, the presence of PBs is associated with variants of meningioma and pituitary lesions, as well as aging choroid plexus. Limited information exists on their presence in vascular malformation. RESULTS: In this report, we describe a case of an adolescent male with drug-resistant epilepsy that was surgically managed at our regional epilepsy center. The epileptogenic focus was determined to be emanating from an indolent right insular lesion. Histopathologic evaluation showed the abundance of intravascular and perivascular PBs. Immunohistochemical evaluation confirmed the vascular origin using vascular markers. The unusual presence of PBs in a vascular lesion was unanticipated. CONCLUSIONS: Based on our case, we present the clinicoradiologic characteristics, supplemented with intraoperative findings, for this unusual lesion. In addition, because of the unusual presence of PBs in vascular lesions, we provide the findings of a systematic literature review to show the association of PBs with intracranial vascular lesions.


Assuntos
Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/patologia , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/patologia , Calcificação Vascular/complicações , Calcificação Vascular/patologia , Adolescente , Diagnóstico Diferencial , Humanos , Masculino
14.
Neurodiagn J ; 56(4): 266-275, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28436801

RESUMO

This revision to the EEG Guidelines is an update incorporating the current electroencephalography technology and practice. It was previously published as Guideline 2. Similar to the prior guideline, it delineates the aspects of Guideline 1 that should be modified for neonates and young children. Recording conditions for photic stimulation and hyperventilation are revised to enhance the provocation of epileptiform discharges. Revisions recognize the difficulties involved in performing an EEG under sedation in young children. Recommended neonatal EEG montages are displayed for the reduced set of electrodes only since the montages in Guideline 3 should be used for a 21-electrode 10-20 system array. Neonatal documentation is updated to use current American Academy of Pediatrics term "postmenstrual age" rather than "conceptional age." Finally, because therapeutic hypothermia alters the prognostic value of neonatal EEG, the necessity of documenting the patient's temperature at the time of recording is emphasized.


Assuntos
Eletroencefalografia/normas , Temperatura Corporal , Criança , Pré-Escolar , Eletrodos/normas , Eletroencefalografia/instrumentação , Eletroencefalografia/métodos , Equipamentos e Provisões/normas , Humanos , Hipotermia Induzida , Lactente , Recém-Nascido , Neurofisiologia , Estimulação Luminosa , Sociedades Médicas , Estados Unidos
16.
Development ; 141(20): 3966-77, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25294941

RESUMO

Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmin(gpg6/gpg6), Atmin(H210Q/H210Q) and Dynll1(GT/GT), revealing how ATMIN and its transcriptional target dynein light chain LC8-type 1 (DYNLL1) are required for normal lung morphogenesis and ciliogenesis. Expression screening of ciliogenic genes confirmed Dynll1 to be controlled by ATMIN and further revealed moderately altered expression of known intraflagellar transport (IFT) protein-encoding loci in Atmin mutant embryos. Significantly, Dynll1(GT/GT) embryonic cilia exhibited shortening and bulging, highly similar to the characterised retrograde IFT phenotype of Dync2h1. Depletion of ATMIN or DYNLL1 in cultured cells recapitulated the in vivo ciliogenesis phenotypes and expression of DYNLL1 or the related DYNLL2 rescued the effects of loss of ATMIN, demonstrating that ATMIN primarily promotes ciliogenesis by regulating Dynll1 expression. Furthermore, DYNLL1 as well as DYNLL2 localised to cilia in puncta, consistent with IFT particles, and physically interacted with WDR34, a mammalian homologue of the Chlamydomonas cytoplasmic dynein 2 intermediate chain that also localised to the cilium. This study extends the established Atmin-Dynll1 relationship into a developmental and a ciliary context, uncovering a novel series of interactions between DYNLL1, WDR34 and ATMIN. This identifies potential novel components of cytoplasmic dynein 2 and furthermore provides fresh insights into the molecular pathogenesis of human skeletal ciliopathies.


Assuntos
Cílios/fisiologia , Regulação da Expressão Gênica no Desenvolvimento , Pulmão/embriologia , Fatores de Transcrição/fisiologia , Animais , Chlamydomonas/metabolismo , Cílios/metabolismo , Dineínas do Citoplasma , Dano ao DNA , Dineínas/metabolismo , Marcadores Genéticos , Células HEK293 , Proteínas Hedgehog/metabolismo , Humanos , Camundongos , Mutação , Fenótipo , Transdução de Sinais , Fatores de Transcrição/metabolismo , Transcrição Gênica
17.
J Neurosci Rural Pract ; 5(2): 171-4, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24966560

RESUMO

X-linked lymphoproliferative disease (XLP) is a rare, often fatal genetic disorder characterized by extreme vulnerability to Epstein-Barr virus (EBV). EBV-induced hemophagocytic lymphohistiocytosis (HLH) is a known presentation in XLP. In EBV-induced HLH in XLP, the brain imaging findings in the acute phase include a non specific pattern. In this report, we highlight the magnetic resonance imaging and magnetic resonance spectroscopy findings in a child with EBV induced HLH in XLP.

18.
Metas enferm ; 17(5): 50-54, jun. 2014. tab
Artigo em Espanhol | IBECS | ID: ibc-124700

RESUMO

Los servicios de urgencias extrahospitalarias (SUE) se enfrentan en muchas ocasiones a situaciones con patologías agudas en las que es necesario aliviar o paliar el dolor intenso, a fin de garantizar el máximo bienestar a la persona atendida. Se presenta el uso dela técnica del bloqueo nervioso femoral (BNF) en un SUE. Para ello, se describe un caso clínico real de una paciente con fractura de fémur cerrada a la cual se le aplica la citada técnica, llevándose a cabo de acuerdo a las diversas recomendaciones extraídas de la literatura científica consultada y la evidencia. Se destaca el BNF como una opción analgésica segura y viable, para ser aplicada en el medio extrahospitalario, en el manejo del dolor en pacientes estables con fractura de fémur. El propósito de este trabajo es difundir la aplicación de la técnica del BNF en los SUE a fin de fomentar su uso. Tanto la experiencia práctica del caso clínico presentado como la evidencia consultada, demuestran que el correcto uso de las técnicas de analgesia mediante bloqueos perineurales puede garantizar mejores niveles de comodidad para el paciente durante los procesos de inmovilización, recogida, transporte y posterior traslado


Out-of-hospital Emergency Services (OES) often face situations with acute conditions, where it is necessary to alleviate or reduce intense pain, in order to provide the highest comfort to the patient under care. The use of the Femoral Nerve Block(FNB) technique in an OES is presented here. To that aim, a real clinical case is described, about a female patient with a closed femur fracture to whom said technique was applied, according to the various recommendations in scientific literature consulted and the evidence. FNB is highlighted as a safe and viable analgesic option to be applied in the out-of-hospital setting, for management of pain in stable patients with femur fracture. This article intends to make public the application of the FNB technique in OES, with the aim to encourage its use. Both the practical experience of the clinical case presented and the evidence consulted demonstrate that a correct use of analgesic techniques through perineural blocks can ensure better levels of comfort for patients during immobilization, collection, transport and subsequent referral


Assuntos
Humanos , Feminino , Manejo da Dor/métodos , Bloqueio Nervoso/métodos , Nervo Femoral , Fraturas do Fêmur/terapia , Serviços Médicos de Emergência/métodos , Tratamento de Emergência/métodos , Assistência Pré-Hospitalar
19.
J Clin Invest ; 124(4): 1468-82, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24614104

RESUMO

The recent identification of multiple dominant mutations in the gene encoding ß-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of ß-catenin function in cognitive impairment. In humans, ß-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo ß-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with ß-catenin mutations enabled us to investigate the consequences of ß-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (Bfc), carries a Thr653Lys substitution in the C-terminal armadillo repeat of ß-catenin and displayed a reduced affinity for membrane-associated cadherins. In association with this decreased cadherin interaction, we found that the mutation results in decreased intrahemispheric connections, with deficits in dendritic branching, long-term potentiation, and cognitive function. Our study provides in vivo evidence that dominant mutations in ß-catenin underlie losses in its adhesion-related functions, which leads to severe consequences, including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and abnormal craniofacial features in adults.


Assuntos
Anormalidades Craniofaciais/genética , Deficiência Intelectual/genética , Mutação , beta Catenina/genética , Adolescente , Adulto , Sequência de Aminoácidos , Substituição de Aminoácidos , Animais , Sequência de Bases , Encéfalo/patologia , Caderinas/química , Pré-Escolar , Anormalidades Craniofaciais/patologia , DNA/genética , Modelos Animais de Doenças , Feminino , Genes Dominantes , Humanos , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , Camundongos Mutantes , Pessoa de Meia-Idade , Modelos Moleculares , Dados de Sequência Molecular , Complexos Multiproteicos/química , Complexos Multiproteicos/genética , Fenótipo , Homologia de Sequência de Aminoácidos , Síndrome , Adulto Jovem , beta Catenina/química , beta Catenina/metabolismo
20.
Nutr. hosp ; 28(5): 1567-1573, sept.-oct. 2013. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-120338

RESUMO

Introducción: La obesidad es un importante problema de salud a nivel mundial. España tiene una de las cifras más altas de obesidad infantil de Europa y están aumentando, lo que obliga a desarrollar estrategias innovadoras que reviertan esta tendencia y disminuyan los problemas de salud asociados a la obesidad y el enorme consumo de recursos que se prevé en los años venideros. Objetivos: Determinar si una intervención educativa por parte de un profesional sanitario aporta un beneficio adicional en la adquisición de conocimientos en materia de nutrición. Secundariamente determinar prevalencia de exceso de peso así como los hábitos de vida en una muestra de escolares. Material y métodos: Estudio piloto longitudinal analítico y de intervención aleatorizado por bloques realizado en una muestra de 107 alumnos de entre 9-15 años. Se estimaron mediante encuesta peso, talla, adherencia a la Dieta Mediterránea, grado de actividad física y sedentarismo, y conocimientos en alimentación y hábitos de vida saludables. Sobre un grupo de intervención (54 alumnos) se realizó una intervención educativa breve por parte de un profesional sanitario. Dos meses después se reevaluaron los conocimientos de alimentación y hábitos de vida saludables en todos los alumnos. Resultados: Después de la intervención educativa los alumnos del grupo de intervención poseen más conocimientos relativos a alimentación y hábitos de vida saludables que los alumnos del grupo control, y esta diferencia es estadísticamente significativa. Conclusiones: Las actividades educativas de apoyo dentro del programa escolar de estilos de vida saludable por parte de profesionales sanitarios pueden suponer un beneficio adicional en las estrategias encaminadas a disminuir la obesidad infantil en nuestro medio (AU)


INTRODUCTION: Obesity is an important health concern worldwide. Spain has one of the highest pediatric obesity rates among European countries, and they are increasing, which mandates the development of innovative strategies aimed at reverting this trend and decreasing the health problems related to obesity and the considerable waste of resources foreseen for the upcoming years. OBJECTIVES: To determine if an educational intervention from a health professional would yield an additional benefit in the acquisition of knowledge on nutrition. A second objective was to determine the prevalence of weight excess as well as the lifestyle habits in a sample of school students. MATERIAL AND METHODS: Analytical, interventional, random, longitudinal, pilot study in a sample of 107 students aged 9-15 years. The weight, height, adherence to the Mediterranean diet, level of physical activity and sedentarism, and knowledge on feeding and healthy lifestyles were estimated through a questionnaire. In an intervention group (54 students) a short educational intervention was carried out by a health professional. Two months later, the knowledge on diet and lifestyle habits was reassessed in all the students. RESULTS: After the educational intervention, the students in the intervention group had better knowledge regarding feeding and healthy lifestyles than the control students, and this difference was statistically significant. CONCLUSIONS: the additional educational activities on healthy lifestyles within the scholar program given by a health professional may represent an additional benefit to the strategies aimed at decreasing pediatric obesity in our setting (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Educação Alimentar e Nutricional , Estado Nutricional , Nutrição da Criança , Obesidade/prevenção & controle , Avaliação de Eficácia-Efetividade de Intervenções , Alimentação Escolar , Inquéritos Nutricionais
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