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Congenital lip pits are characterized by sinuses or fistulas in the lips that can occur in isolation or as part of a genetic disorder. A 6-year-old girl with a right upper lip lesion present at birth presented with recurrent swelling and occasional erythema. Examination revealed a mildly swollen punctum at the right upper wet/dry vermillion with expressible serous drainage. There were no other phenotypic or cognitive concerns. The lesion was surgically excised using vertical wedge resection. The postoperative course showed well well-healed incision. The pathology report confirmed a lip pit. The family was referred to genetics for further evaluation. Van der Woude syndrome (VWS) is a genetic disorder associated with abnormal development of the paramedian lip. Most congenital lip pits are primarily found on the lower lips, with paramedian lip pits being the most common. Upper lateral lip pits with or without accompanying lip pits are considerably rarer. Though VWS is commonly associated with mutations in the interferon regulatory factor 6 or grainyhead-like protein 3 genes, ~25% of affected individuals lack an identified genetic etiology. A high index of suspicion for VWS is warranted if lip pits are present in the absence of other phenotypic abnormalities and should prompt genetic testing for interferon regulatory factor 6 and grainyhead-like protein 3 mutations. Multidisciplinary teams should consider patient self-esteem, quality of life, and potential family planning when deciding on surgical intervention for lip pits. Surgical management of pits should entail tissue-preserving techniques such as vertical wedge resection and inverted T-lip reduction to prevent whistle-lip deformity.
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Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological, and clinical manifestations. Failure to acknowledge such heterogeneity has hindered the development of efficient drug treatments for ASD and other NDDs. DEPI® (Databased Endophenotyping Patient Identification) is a systems biology, multi-omics, and machine learning-driven platform enabling the identification of subgroups of patients with NDDs and the development of patient-tailored treatments. In this study, we provide evidence for the validation of a first clinically and biologically defined subgroup of patients with ASD identified by DEPI, ASD Phenotype 1 (ASD-Phen1). Among 313 screened patients with idiopathic ASD, the prevalence of ASD-Phen1 was observed to be ~24% in 84 patients who qualified to be enrolled in the study. Metabolic and transcriptomic alterations differentiating patients with ASD-Phen1 were consistent with an over-activation of NF-κB and NRF2 transcription factors, as predicted by DEPI. Finally, the suitability of STP1 combination treatment to revert such observed molecular alterations in patients with ASD-Phen1 was determined. Overall, our results support the development of precision medicine-based treatments for patients diagnosed with ASD.
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Hospitalização , Humanos , Projetos Piloto , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Fototerapia/métodos , Depressão/terapia , IdosoRESUMO
ABSTRACT: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL. Encephalocraniocutaneous lipomatosis commonly causes skin, eye, and central nervous system anomalies. Diagnosis can be made through genetic sequencing or standardized clinical criteria. One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. In this case, a 50-day-old female infant with uncomplicated birth history presented to dermatology clinic for evaluation of 2 superficial cranial masses that had been present since birth without regression or evolution. One of the masses was located within the hairline and demonstrated overlying nonscarring alopecia, suspicious of NP. Because of concern for ECCL, brain magnetic resonance imaging was ordered and revealed 2 intracranial lipomas. Genetic testing was inconclusive. Excision of the masses was performed at the request of the parents for cosmetic purposes. Histologic evaluation of the surgical specimens confirmed the diagnosis of NP and ECCL. A suspected NP should raise concern for ECCL and prompt further evaluation for systemic involvement. In particular, patients with suspected ECCL should be screened for ocular and CNS involvement. Early identification and diagnosis are important for prognostication because patients with ECCL are at increased risk of developing neoplasms of the head and neck and may require more frequent screening examinations.
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Oftalmopatias , Lipomatose , Síndromes Neurocutâneas , Nevo , Neoplasias Cutâneas , Lactente , Humanos , Feminino , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/complicações , Alopecia , Nevo/complicaçõesRESUMO
Digital technology now occupies a fundamental space in human life. Increasingly sophisticated access to information and social interactions has enabled a sort of offloading of many aspects of cognition, and for many people, this technology use has been lifelong. While the global development of technologies advances exponentially as part of the Fourth Industrial Revolution, researchers have not yet fully characterized the human effects of this technology-centric revolution at the same pace. In this mini-review, we consider three important higher-level cognitive functions: creativity, adaptability, and decision-making, and discuss their potential relationship to lifelong digital technology experience, which here includes both passive exposure and active use of electronic devices. We then articulate the gaps in related literature and knowledge, and outline general considerations, suggestions, and challenges for future research avenues. In general, we found that prior research has investigated uses of specific technology products on lower-level cognition (e.g., how does the use of online search engines affect memory?), but there is a lack of research assessing the overall effects of technology experience on cognitive functioning, particularly complex cognition.
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OBJECTIVE: To determine if there are longer-term effects on symptoms, health status, mood, and behavior 10 years after a mild traumatic brain injury (mTBI). DESIGN: Prospective cohort study. SETTING: Community-based, civilian sample. PARTICIPANTS: Adults aged ≥16 years at follow-up who experienced an mTBI 10 years ago, and an age and sex-matched non-injured control group. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: mTBI cases and controls were asked to complete self-report assessments of functioning (WHO Disability Assessment Schedule Version 2), symptoms (Rivermead Post-Concussion Symptom Questionnaire), health status (100-point scale), alcohol (Alcohol Use Disorders Identification Test) and substance use (Alcohol, Smoking and Substance Involvement Screening Test), and whether they had engaged in any anti-social behaviors over the past 12 months. RESULTS: Data were analyzed for 368 participants (184 mTBI cases and 184 age-sex matched controls). Just over a third of mTBI cases (64, 34.8%) reported that they were still affected by their index mTBI 10 years later. After adjusting for education and ethnicity, the mTBI group had statistically higher overall symptom burden (F=22.32, P<.001, ηp2=0.07) compared with controls. This difference remained after excluding those who experienced a recurrent TBI. The mTBI group were more than 3 times as likely to have engaged in anti-social behavior during the previous 12 months (F=5.89, P=.02). There were no group differences in health status, functioning, or problematic alcohol or substance use 10 years post-injury. CONCLUSIONS: This study provides evidence of potential longer-term associations between mTBI, post-concussion symptoms, and anti-social behavior which warrants further evaluation. Future research should also examine if longer-term effects may be preventable with access to early rehabilitation post-injury.
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Alcoolismo , Concussão Encefálica , Síndrome Pós-Concussão , Adulto , Humanos , Estudos Prospectivos , Grupos ControleRESUMO
Scaling up climate-adaptation in wildfire-prone watersheds requires innovative partnerships and funding. Water utilities are one stakeholder group that could play a role in these efforts. The overarching purpose of this study was to understand water utility engagement in wildfire mitigation efforts in the western United States. We conducted an online survey of water utilities in nine states and received 173 useable responses. While most (68%) respondents were concerned or very concerned about future wildfire events and the impact of wildfire on their operations, only 39% perceived their organization as responsible for mitigating wildfire risk. Federal land ownership decreased feeling responsible for wildfire mitigation, while concern for and information on wildfire increased feeling responsible for mitigation. The perception of response efficacy of mitigation actions for the 68 water utilities engaged in wildfire risk mitigation activities was very high, with most agreeing that mitigation actions are effective. Self-efficacy to implement mitigation actions, however, was mixed, with most utilities wanting more information on wildfire risk and impacts to watershed services. The most reported wildfire mitigation actions were forest thinning and stream restoration. Water utilities engaging in these actions typically partnered with government agencies or other water utilities to complete the work and funded these activities through water user fees and grants. Our findings suggest that water utility engagement in wildfire mitigation for water security could be increased through providing more assessments of wildfire risk to water utilities and through more outreach and engagement with water utilities operating on federal lands.
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Incêndios , Incêndios Florestais , Estados Unidos , Conservação dos Recursos Naturais , Florestas , PropriedadeRESUMO
BACKGROUND: TBI during adolescence can result in significant acute symptoms that can persist into adulthood. This research analyzed retrospective qualitative accounts of young adults who had sustained a TBI in adolescence to explore coping and recovery processes specific to this developmental stage. METHODS: Thirteen adults (aged 20-25 years; mean 23 years) who sustained a mild (n = 12) or moderate (n = 1) TBI during adolescence (aged 13-17 years at injury), approximately 7.7 years (range = 6.7-8.0 years) prior, participated. Semi-structured individual interviews, analyzed using thematic analysis, explored participants' experiences following their TBIs. RESULTS: Thematic data analysis produced two key categories of themes relating to recovery processes: (1) Individual factors impacting coping, with themes of learning to cope with difficulties, seeking acceptance and balance, and finding meaning; and (2) Social factors impacting coping, which included themes of feeling included, relying on family, professionals didn't get it, and lacking someone who understands. CONCLUSIONS: Recovery following TBI sustained during adolescence could be maximized by facilitating greater understanding of specific impacts on young people among clinicians and family, longer term monitoring of symptoms including emotional reactions to symptoms, and the provision of emotional support.
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Lesões Encefálicas Traumáticas , Adulto Jovem , Humanos , Adolescente , Estudos Retrospectivos , Lesões Encefálicas Traumáticas/psicologia , Adaptação Psicológica , Emoções , Encéfalo , Pesquisa QualitativaRESUMO
IMPORTANCE: As a risk factor for conditions related to the microbiome, understanding the role of SVI on microbiome diversity may assist in identifying public health implications for microbiome research. Here we found, using a sub-sample of the Human Microbiome Project phase 1 cohort, that SVI was linked to microbiome diversity across body sites and that SVI may influence race/ethnicity-based differences in diversity. Our findings, build on the current knowledge regarding the role of human geography in microbiome research, suggest that measures of geographic social vulnerability be considered as additional contextual factors when exploring microbiome alpha diversity.
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Microbiota , Vulnerabilidade Social , Humanos , Microbiota/genética , Geografia , Fatores de Risco , Saúde PúblicaRESUMO
Neonatal seizures are commonly associated with acute perinatal brain injury, while understanding regarding the downstream molecular pathways related to seizures remains unclear. Furthermore, effective treatment and reliable biomarkers are still lacking. Post-translational modifications can contribute to changes in protein function, and post-translational citrullination, which is caused by modification of arginine to citrulline via the calcium-mediated activation of the peptidylarginine deiminase (PAD) enzyme family, is being increasingly linked to neurological injury. Extracellular vesicles (EVs) are lipid-bilayer structures released from cells; they can be isolated from most body fluids and act as potential liquid biomarkers for disease conditions and response to treatment. As EVs carry a range of genetic and protein cargo that can be characteristic of pathological processes, the current study assessed modified citrullinated protein cargo in EVs isolated from plasma and CSF in a piglet neonatal seizure model, also following phenobarbitone treatment. Our findings provide novel insights into roles for PAD-mediated changes on EV signatures in neonatal seizures and highlight the potential of plasma- and CSF-EVs to monitor responses to treatment.
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Citrulinação , Vesículas Extracelulares , Recém-Nascido , Humanos , Animais , Suínos , Desiminases de Arginina em Proteínas/metabolismo , Processamento de Proteína Pós-Traducional , Biomarcadores/metabolismo , Vesículas Extracelulares/metabolismo , Convulsões/metabolismoRESUMO
BACKGROUND: Opportunities for adjunct therapies with cooling in neonatal encephalopathy are imminent; however, robust biomarkers of early assessment are lacking. Using an optical platform of broadband near-infrared spectroscopy and diffuse correlation spectroscopy to directly measure mitochondrial metabolism (oxCCO), oxygenation (HbD), cerebral blood flow (CBF), we hypothesised optical indices early (1-h post insult) after hypoxia-ischaemia (HI) predicts insult severity and outcome. METHODS: Nineteen newborn large white piglets underwent continuous neuromonitoring as controls or following moderate or severe HI. Optical indices were expressed as mean semblance (phase difference) and coherence (spectral similarity) between signals using wavelet analysis. Outcome markers included the lactate/N-acetyl aspartate (Lac/NAA) ratio at 6 h on proton MRS and TUNEL cell count. RESULTS: CBF-HbD semblance (cerebrovascular dysfunction) correlated with BGT and white matter (WM) Lac/NAA (r2 = 0.46, p = 0.004, r2 = 0.45, p = 0.004, respectively), TUNEL cell count (r2 = 0.34, p = 0.02) and predicted both initial insult (r2 = 0.62, p = 0.002) and outcome group (r2 = 0.65 p = 0.003). oxCCO-HbD semblance (cerebral metabolic dysfunction) correlated with BGT and WM Lac/NAA (r2 = 0.34, p = 0.01 and r2 = 0.46, p = 0.002, respectively) and differentiated between outcome groups (r2 = 0.43, p = 0.01). CONCLUSION: Optical markers of both cerebral metabolic and vascular dysfunction 1 h after HI predicted injury severity and subsequent outcome in a pre-clinical model. IMPACT: This study highlights the possibility of using non-invasive optical biomarkers for early assessment of injury severity following neonatal encephalopathy, relating to the outcome. Continuous cot-side monitoring of these optical markers can be useful for disease stratification in the clinical population and for identifying infants who might benefit from future adjunct neuroprotective therapies beyond cooling.
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Hipóxia-Isquemia Encefálica , Lactente , Humanos , Animais , Suínos , Hipóxia-Isquemia Encefálica/terapia , Neuroproteção , Biomarcadores , Encéfalo/metabolismo , Animais Recém-NascidosRESUMO
Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others. This study investigated the prevalence of sleep disturbances, and the genetic and metabolic features associated with them, in a cohort of 56 individuals with PMS. Sleep data were collected via standardized observer/caregiver questionnaires, while genetic data from array-CGH and sequencing of 9 candidate genes within the 22q13.3 region, and metabolic profiling utilized the Biolog Phenotype Mammalian MicroArray plates. Sleep disturbances were present in 64.3% of individuals with PMS, with the most common problem being waking during the night (39%). Sleep disturbances were more prevalent in individuals with a SHANK3 pathogenic variant (89%) compared to subjects with 22q13.3 deletions of any size (59.6%). Distinct metabolic profiles for individuals with PMS with and without sleep disturbances were also identified. These data are helpful information for recognizing and managing sleep disturbances in individuals with PMS, outlining the main candidate gene for this neurological manifestation, and highlighting potential biomarkers for early identification of at-risk subjects and molecular targets for novel treatment approaches.
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Transtornos Cromossômicos , Transtornos do Sono-Vigília , Animais , Humanos , Transtornos Cromossômicos/genética , Deleção Cromossômica , Fenótipo , Sono/genética , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/genética , Cromossomos Humanos Par 22/genética , Mamíferos/genéticaRESUMO
Social media users are often exposed to cute content that evokes emotional reactions and influences them to feel or behave certain ways. The cuteness phenomenon in social media has been scarcely studied despite its prevalence and potential to spread quickly and affect large audiences. The main framework for understanding cuteness and emotions related to cuteness outside of social media is baby schema (having juvenile characteristics), which triggers parental instincts. We propose that baby schema is a necessary but not sufficient component of explaining what constitutes cuteness and how people react to it in the social media context. Cute social media content may also have characteristics that evoke approach motivations (a desire to interact with an entity, generally with the expectation of having a positive experience) that can manifest behaviorally in sharing and other prosocial online behaviors. We developed and performed initial validation for measures in social media contexts of: (1) cute attributes that encompass both baby schema and other proposed cuteness characteristics (the Cuteness Attributes Taxonomy, CAT) and (2) the emotional reactions they trigger (Heartwarming Social Media, HSM). We used the Kama Muta Multiplex Scale (KAMMUS Two), as previously validated measure of kama muta (an emotion akin to tenderness; from Sanskrit, "moved by love") as a measure of emotional reaction to cute stimuli and the dimension Cute Content of the Social Media Emotions Annotation Guide (SMEmo-Cute Content) as a developed measure of gestalt cute content to help validate our newly developed measures. Using 1,875 Polish tweets, our results confirmed that cute social media content predicted a kama muta response, but not all KAMMUS Two subscales were sensitive to cute content, and that the HSM measure was a better indicator of the presence of cute content. Further, the CAT measure is an effective means of categorizing cute attributes of social media content. These results suggest potential differences between in-person, online, and social media experiences evoking cute emotional reactions, and the need for metrics that are developed and validated for use in social media contexts.
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Objective: Modern healthcare data reflect massive multi-level and multi-scale information collected over many years. The majority of the existing phenotyping algorithms use case-control definitions of disease. This paper aims to study the time to disease onset and progression and identify the time-varying risk factors that drive them. Materials and Methods: We developed an algorithmic approach to phenotyping the incidence of diseases by consolidating data sources from the UK Biobank (UKB), including primary care electronic health records (EHRs). We focused on defining events, event dates, and their censoring time, including relevant terms and existing phenotypes, excluding generic, rare, or semantically distant terms, forward-mapping terminology terms, and expert review. We applied our approach to phenotyping diabetes complications, including a composite cardiovascular disease (CVD) outcome, diabetic kidney disease (DKD), and diabetic retinopathy (DR), in the UKB study. Results: We identified 49â049 participants with diabetes. Among them, 1023 had type 1 diabetes (T1D), and 40â193 had type 2 diabetes (T2D). A total of 23â833 diabetes subjects had linked primary care records. There were 3237, 3113, and 4922 patients with CVD, DKD, and DR events, respectively. The risk prediction performance for each outcome was assessed, and our results are consistent with the prediction area under the ROC (receiver operating characteristic) curve (AUC) of standard risk prediction models using cohort studies. Discussion and Conclusion: Our publicly available pipeline and platform enable streamlined curation of incidence events, identification of time-varying risk factors underlying disease progression, and the definition of a relevant cohort for time-to-event analyses. These important steps need to be considered simultaneously to study disease progression.
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BACKGROUND: Delirium in the intensive care unit (ICU) is a common but serious condition that has been associated with in-hospital mortality and post-discharge psychological dysfunction. The aim of this before and after study is to determine the effect of a multidisciplinary care model entailing daily ICU rounds with a psychiatrist on the incidence of delirium and clinical outcomes. OBJECTIVE: To assess the impact of a proactive psychiatry consultation model in the surgical ICU on the incidence and duration of delirium. METHODS: This was a prospective, single institution, observational controlled cohort pilot study of adult patients admitted to a surgical ICU. A control group that received standard of care (SOC) with daily delirium prevention care bundles in the pre-intervention period was compared to an intervention group, which had a psychiatrist participate in daily ICU rounds (post-intervention period). The primary outcome was delirium incidence. The secondary outcomes were: delirium duration, ventilator days, hospital and ICU length of stay, and in-hospital mortality. RESULTS: A total of 104 patients were enrolled and equally split between SOC and intervention groups; 95 contributed to analysis. The overall incidence of ICU delirium was 19%. SOC and intervention groups had similar rates of delirium (21% vs 18%, p = 0.72). None of the secondary outcomes statistically significantly differed between the two groups. CONCLUSION: Delirium in ICU patients is a potentially preventable condition with serious sequelae. There was no difference in delirium incidence or duration between patients receiving SOC or patients who had multidisciplinary rounds with a psychiatrist.
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Delírio , Adulto , Humanos , Delírio/epidemiologia , Delírio/prevenção & controle , Estudos Prospectivos , Projetos Piloto , Incidência , Assistência ao Convalescente , Alta do Paciente , Unidades de Terapia Intensiva , Tempo de InternaçãoRESUMO
BACKGROUND: The Australian population is aging, and the proportion of older Australians will continue to grow over the coming decades. However, there is a lack of research published on the specific roles and responsibilities of allied health professionals (AHPs) providing palliative care within an aged care context. Understanding the roles and needs of AHPs providing care during the last months of life in the community and aged care facilities could contribute to workforce planning, targeted information and improved care. METHODS: In total, 108 eSurveys were collected between November 2019 to May 2020 from three allied health professions working in government-funded aged care; the majority of these being in residential aged care. Descriptive data are reported on the provision of care in key palliative care domains, care settings and practice activity. RESULTS: Nearly all respondents reported they had worked with older Australians who had palliative care needs. However, over one-third of respondents reported low levels of confidence in supporting clients or residents with palliative care needs. The majority indicated they would benefit from additional education and training and support in palliative care. CONCLUSIONS: This study investigated the role of the allied health workforce in contributing to the care of older Australians at the end of life. It has also demonstrated that there are gaps in practice activity and work role that must be addressed to ensure this workforce can support older people with palliative care needs in receipt of aged care services.
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Pessoal Técnico de Saúde , Cuidados Paliativos , Humanos , Idoso , Austrália , Envelhecimento , MorteRESUMO
Protected areas (PAs) are a commonly used strategy to confront forest conversion and biodiversity loss. Although determining drivers of forest loss is central to conservation success, understanding of them is limited by conventional modeling assumptions. We used random forest regression to evaluate potential drivers of deforestation in PAs in Mexico, while accounting for nonlinear relationships and higher order interactions underlying deforestation processes. Socioeconomic drivers (e.g., road density, human population density) and underlying biophysical conditions (e.g., precipitation, distance to water, elevation, slope) were stronger predictors of forest loss than PA characteristics, such as age, type, and management effectiveness. Within PA characteristics, variables reflecting collaborative and equitable management and PA size were the strongest predictors of forest loss, albeit with less explanatory power than socioeconomic and biophysical variables. In contrast to previously used methods, which typically have been based on the assumption of linear relationships, we found that the associations between most predictors and forest loss are nonlinear. Our results can inform decisions on the allocation of PA resources by strengthening management in PAs with the highest risk of deforestation and help preemptively protect key biodiversity areas that may be vulnerable to deforestation in the future.
Identificación de los factores biofísicos y socioeconómicos que impulsan la pérdida de bosques en las áreas protegidas Resumen Las áreas protegidas son una estrategia de uso común para hacer frente a la conversión forestal y la pérdida de biodiversidad. Aunque determinar los factores que impulsan la pérdida de bosques es fundamental para el éxito de la conservación, su comprensión se ve limitada por los supuestos de modelación convencionales. Utilizamos la regresión de bosques aleatorios para evaluar los posibles impulsores de la deforestación en las áreas protegidas de México, considerando las relaciones no lineales y las interacciones de orden superior que subyacen a los procesos de deforestación. Los impulsores socioeconómicos (densidad de carreteras, densidad de población humana) y las condiciones biofísicas subyacentes (precipitaciones, distancia al agua, elevación, pendiente) fueron predictores más fuertes de la pérdida de bosques que las características de las áreas protegidas, como la edad, el tipo y la efectividad de la gestión. Dentro de las características de las áreas protegidas, las variables que reflejan una gestión colaborativa y equitativa y el tamaño del área protegida fueron los predictores más potentes de la pérdida de bosques, aunque con menor poder explicativo que las variables socioeconómicas y biofísicas. A diferencia de los métodos utilizados anteriormente, que suelen basarse en el supuesto de relaciones lineales, observamos que las asociaciones entre la mayoría de los predictores y la pérdida de bosques no son lineales. Nuestros resultados pueden servir de base para la toma de decisiones sobre la asignación de los recursos para las áreas protegidas, reforzando la gestión en las zonas protegidas con mayor riesgo de deforestación y ayudando a proteger de forma preventiva zonas clave para la biodiversidad que pueden ser vulnerables a la deforestación en el futuro.
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Biodiversidade , Conservação dos Recursos Naturais , Humanos , Conservação dos Recursos Naturais/métodos , México , Densidade Demográfica , Fatores SocioeconômicosRESUMO
Neuropsychologists working in a pediatric neurorehabilitation setting provide care for children and adolescents with acquired brain injuries (ABI) and play a vital role on the interdisciplinary treatment team. This role draws on influences from the field of clinical neuropsychology and its pediatric subspecialty, as well as rehabilitation psychology. This combination of specialties is uniquely suited for working with ABI across the continuum of recovery. ABI recovery often involves a changing picture that spans across stages of recovery (e.g., disorders of consciousness, confusional state, acute cognitive impairment), where each stage presents with distinctive characteristics that warrant a specific evidence-based approach. Assessment and intervention are used reciprocally to inform diagnostics, treatment, and academic planning, and to support patient and family adjustment. Neuropsychologists work with the interdisciplinary teams to collect and integrate data related to brain injury recovery and use this data for treatment planning and clinical decision making. These approaches must often be adapted and adjusted in real time as patients recover, demanding a dynamic expertise that is currently not supported through formal training curriculum or practice guidelines. This paper outlines the roles and responsibilities of pediatric rehabilitation neuropsychologists across the stages of ABI recovery with the goal of increasing awareness in order to continue to develop and formalize this role.
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Lesões Encefálicas , Neuropsicologia , Adolescente , Humanos , Criança , Lesões Encefálicas/complicações , MotivaçãoRESUMO
The human papillomavirus (HPV) status of squamous cell carcinomas (SCCs) of the head and neck is relevant for therapy planning, staging, and follow-up. Immunohistochemistry (IHC) for p16 is a surrogate marker of HPV status in oropharyngeal SCC, but not at other head and neck sites. We tested if the cobas HPV test was feasible and superior to p16-IHC on fine-needle aspiration (FNA) supernatants and frozen section (FS) scrapings of suspected SCC. A 500 µL aliquots of postcentrifugation supernatant CytoRich Red media of FNA cellblock specimens and scrapings of FS suspended in SurePath media vials were tested with the cobas HPV test and compared with p16-IHC and/or HPV in situ hybridization (ISH) performed on cellblock and/or resections. Twenty-nine (n=29) FNAs were tested for a cobas HPV test, p16, and/or HPV-ISH. The mean collection to testing time was 6.3 days (range: 0 to 24 d). Cobas yielded valid results in all cases; p16-IHC could not be interpreted in 4 (13%) cellblocks; correlation was performed on subsequent resections. Cohen κ correlation for cobas versus p16-IHC/HPV-ISH on FNA samples was 0.9, perfect agreement, sensitivity 100%, specificity 92.3%, positive predictive value 94.1%, negative predictive value 100%. Thirty-four (n=34) scrapings from FS were tested for cobas, p16, and/or HPV-ISH. The mean collection to testing time was 10.4 days (range: 1 to 28 d). Cohen κ correlation for cobas versus p16-IHC/HPV-ISH on FS scrapings was 1, perfect agreement. Sensitivity, specificity, positive predictive value, and negative predictive value was 100%. Cobas genotype was HPV-16 in 87%, HPV-18 in 3%, and HPV-other in 10%. Cobas HPV test in FNA supernatant and FS scrapings outperformed or was equivalent to p16-IHC and provided genotyping information.