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1.
Wilderness Environ Med ; 35(2): 234-242, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38380990

RESUMO

INTRODUCTION: Pain management for trauma in the extreme environment is vital for both casualty comfort and aiding safe extrication. However, adequate pain management in a resource-limited environment can be challenging and is often limited. We conducted a scoping review of the use of regional anesthesia in the prehospital environment, evaluating which regional anesthetic procedure was performed for various indications, their efficacy, and the type of healthcare provider delivering the anesthetic. METHODS: A PRISMA-guided systematic literature review was conducted of Medline, Embase, and Cochrane databases for studies reporting the use of regional anesthesia in the prehospital environment published before June 30, 2022. RESULTS: Thirty studies met the criteria and were included in the review. The most common types of regional anesthesia were fascia-iliaca compartment block (n = 317, from 12 studies) and femoral nerve block (n = 210, from 8 studies), along with various other blocks for a range of indications. These blocks had good efficacy and a low-risk profile and could be delivered by a wide range of healthcare providers. CONCLUSIONS: Regional anesthesia is an effective and non-resource-heavy pain management tool in prehospital environments, which may be applicable to austere settings. It can cover a wide range of injuries and can avoid systemic complications for casualties that may already be challenging to manage in out-of-hospital settings. Additionally, regional anesthesia can be effectively delivered by a wide range of providers. This review provides a holistic summary of pain management using regional anesthesia in the prehospital environment, with a discussion on its potential use in more extreme settings.


Assuntos
Anestesia por Condução , Serviços Médicos de Emergência , Humanos , Anestesia por Condução/métodos , Serviços Médicos de Emergência/métodos , Manejo da Dor/métodos , Medicina Selvagem/métodos , Ferimentos e Lesões/terapia , Ferimentos e Lesões/cirurgia , Região de Recursos Limitados
2.
Ann Emerg Med ; 82(3): 288-297, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36797134

RESUMO

Emergency departments (EDs) are dynamic, complex, and demanding environments. Introducing changes that lead to improvements in EDs can be challenging owing to the high staff turnover and mix, high patient volume with different needs, and being the front door to the hospital for the sickest patients. Quality improvement is a methodology applied routinely in EDs to instigate change to improve several outcomes such as waiting times, time to definitive treatment, and patient safety. Introducing the changes needed to transform the system in this way is seldom straightforward with the risk of "not seeing the forest for the trees" when attempting to change the system. In this article, we demonstrate how the functional resonance analysis method can be used to capture the experiences and perceptions of frontline staff to identify the key functions in the system (the trees), to understand the interactions and dependencies between them to make up the ED ecosystem ("the forest") and to support quality improvement planning, identifying priorities and patient safety risks.


Assuntos
Ecossistema , Melhoria de Qualidade , Humanos , Hospitais , Manipulação Ortopédica , Serviço Hospitalar de Emergência
3.
J Pediatr Psychol ; 47(6): 652-661, 2022 06 07.
Artigo em Inglês | MEDLINE | ID: mdl-34986222

RESUMO

OBJECTIVE: To provide national norms and percentiles for both research and clinical scoring modalities of the Vanderbilt Attention Deficit/Hyperactivity Disorder (ADHD) Diagnostic Parent Rating Scale (VADPRS) for a representative sample of children ages 5-12 in the United States. METHOD: The five clinical subscales of the VADPRS were completed by 1,570 caregivers of children ages 5-12 in the United States, with children representative of the national population on key demographic variables including race, sex, ethnicity, family income, and family educational level. Descriptive statistics and measures of internal consistency of both dimensional and symptom count scoring were provided for each of the five clinical subscales of the inventory, as well as percentiles and group comparisons for select dimensional scoring subscales based on age and child sex. RESULTS: Measures of internal consistency for each subscale using both scoring modalities of the VADPRS ranged from high to acceptable. There were statistically significant differences among the different subscales for both age (ADHD hyperactivity, anxiety/depression) and sex [both presentations of ADHD, oppositional defiant disorder (ODD)] for the total sample. These differences, however, were modest in magnitude and unlikely to be clinically meaningful. CONCLUSIONS: This study enhances the research and clinical utility of the VADPRS by providing national norms and percentiles for each of its subscales. Differences between age and sex across the sample were statistically significant for two of the subscales (Hyperactivity and Anxiety/Depression) with additional subscales significant for sex alone (Inattentive and ODD), but these differences were not substantial enough to indicate a need for separate cut-offs for screening purposes.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo , Criança , Pré-Escolar , Depressão , Humanos , Pais
4.
J Med Internet Res ; 24(6): e37324, 2022 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-35759334

RESUMO

BACKGROUND: Improving rigor and transparency measures should lead to improvements in reproducibility across the scientific literature; however, the assessment of measures of transparency tends to be very difficult if performed manually. OBJECTIVE: This study addresses the enhancement of the Rigor and Transparency Index (RTI, version 2.0), which attempts to automatically assess the rigor and transparency of journals, institutions, and countries using manuscripts scored on criteria found in reproducibility guidelines (eg, Materials Design, Analysis, and Reporting checklist criteria). METHODS: The RTI tracks 27 entity types using natural language processing techniques such as Bidirectional Long Short-term Memory Conditional Random Field-based models and regular expressions; this allowed us to assess over 2 million papers accessed through PubMed Central. RESULTS: Between 1997 and 2020 (where data were readily available in our data set), rigor and transparency measures showed general improvement (RTI 2.29 to 4.13), suggesting that authors are taking the need for improved reporting seriously. The top-scoring journals in 2020 were the Journal of Neurochemistry (6.23), British Journal of Pharmacology (6.07), and Nature Neuroscience (5.93). We extracted the institution and country of origin from the author affiliations to expand our analysis beyond journals. Among institutions publishing >1000 papers in 2020 (in the PubMed Central open access set), Capital Medical University (4.75), Yonsei University (4.58), and University of Copenhagen (4.53) were the top performers in terms of RTI. In country-level performance, we found that Ethiopia and Norway consistently topped the RTI charts of countries with 100 or more papers per year. In addition, we tested our assumption that the RTI may serve as a reliable proxy for scientific replicability (ie, a high RTI represents papers containing sufficient information for replication efforts). Using work by the Reproducibility Project: Cancer Biology, we determined that replication papers (RTI 7.61, SD 0.78) scored significantly higher (P<.001) than the original papers (RTI 3.39, SD 1.12), which according to the project required additional information from authors to begin replication efforts. CONCLUSIONS: These results align with our view that RTI may serve as a reliable proxy for scientific replicability. Unfortunately, RTI measures for journals, institutions, and countries fall short of the replicated paper average. If we consider the RTI of these replication studies as a target for future manuscripts, more work will be needed to ensure that the average manuscript contains sufficient information for replication attempts.


Assuntos
Lista de Checagem , Editoração , Humanos , Noruega , Reprodutibilidade dos Testes , Projetos de Pesquisa
5.
Compr Rev Food Sci Food Saf ; 20(3): 2825-2881, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33960599

RESUMO

Food manufacturers are required to obtain scientific and technical evidence that a control measure or combination of control measures is capable of reducing a significant hazard to an acceptable level that does not pose a public health risk under normal conditions of distribution and storage. A validation study provides evidence that a control measure is capable of controlling the identified hazard under a worst-case scenario for process and product parameters tested. It also defines the critical parameters that must be controlled, monitored, and verified during processing. This review document is intended as guidance for the food industry to support appropriate validation studies, and aims to limit methodological discrepancies in validation studies that can occur among food safety professionals, consultants, and third-party laboratories. The document describes product and process factors that are essential when designing a validation study, and gives selection criteria for identifying an appropriate target pathogen or surrogate organism for a food product and process validation. Guidance is provided for approaches to evaluate available microbiological data for the target pathogen or surrogate organism in the product type of interest that can serve as part of the weight of evidence to support a validation study. The document intends to help food manufacturers, processors, and food safety professionals to better understand, plan, and perform validation studies by offering an overview of the choices and key technical elements of a validation plan, the necessary preparations including assembling the validation team and establishing prerequisite programs, and the elements of a validation report.


Assuntos
Microbiologia de Alimentos , Indústria de Processamento de Alimentos , Inocuidade dos Alimentos , Saúde Pública
6.
Biol Lett ; 16(11): 20200648, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33232649

RESUMO

Chromosome fusion and fission are primary mechanisms of karyotype evolution. In particular, the fusion of a sex chromosome and an autosome has been proposed as a mechanism to resolve intralocus sexual antagonism. If sexual antagonism is common throughout the genome, we should expect to see an excess of fusions that join sex chromosomes and autosomes. Here, we present a null model that provides the probability of a sex chromosome autosome fusion, assuming all chromosomes have an equal probability of being involved in a fusion. This closed-form expression is applicable to both male and female heterogametic sex chromosome systems and can accommodate unequal proportions of fusions originating in males and females. We find that over 25% of all chromosomal fusions are expected to join a sex chromosome and an autosome whenever the diploid autosome count is fewer than 16, regardless of the sex chromosome system. We also demonstrate the utility of our model by analysing two contrasting empirical datasets: one from Drosophila and one from the jumping spider genus Habronattus. We find that in the case of Habronattus, there is a significant excess of sex chromosome autosome fusions but that in Drosophila there are far fewer sex chromosome autosome fusions than would be expected under our null model.


Assuntos
Cromossomos Sexuais , Cromossomo X , Animais , Feminino , Genoma , Cariotipagem , Masculino , Probabilidade , Cromossomos Sexuais/genética
7.
J Contemp Dent Pract ; 21(12): 1350-1353, 2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-33893257

RESUMO

AIM AND OBJECTIVE: Peri-implantitis is a key concern for dental implants and the main common reason for implant failure. This investigation evaluated the risk factors and their implications on peri-implantitis. MATERIALS AND METHODS: A retrospective search of the patients' clinical notes was performed to identify the documented cases of peri-implantitis. The inclusion criteria encompassed patients who were 18 years and older and were seen at the School of Dental Medicine, University of Nevada, Las Vegas, from January 2014 through September 2018. The search revealed that the number of peri-implantitis cases was 28, with an overall 45 implants. Data were collected and analyzed using the Chi-square test. RESULTS: Total 28 patients presented with peri-implantitis. The distribution of males to females with peri-implantitis was 60.7 and 39.3%, respectively. The highest number of patients (21.4%) presenting with peri-implantitis fell within the age range of 65-69 years; 53.3% of peri-implantitis cases were in the maxillary arch. The predilection area for peri-implantitis was the mandibular first molar (24.4%). Periodontitis was the most significant cause (60.7%); respiratory diseases (42.9%) followed by hypertension (28.6%) were the most prevalent medical conditions in the studied population. Peri-implantitis occurred most frequently among Caucasians (62.7%), followed by Hispanics (29%). CONCLUSION: Within the limitations of the current evaluation, findings support previous claims that periodontitis remains the strongest predictor of peri-implantitis. A correlation may exist between peri-implantitis and the location of the implant and respiratory disease. CLINICAL SIGNIFICANCE: The implant location, the presence of periodontitis, and respiratory diseases are considered to be risk factors for peri-implantitis.


Assuntos
Implantes Dentários , Peri-Implantite , Periodontite , Idoso , Implantes Dentários/efeitos adversos , Feminino , Humanos , Masculino , Peri-Implantite/epidemiologia , Peri-Implantite/etiologia , Periodontite/epidemiologia , Periodontite/etiologia , Estudos Retrospectivos , Fatores de Risco
8.
J Evol Biol ; 32(4): 369-379, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30698300

RESUMO

Genetic architecture fundamentally affects the way that traits evolve. However, the mapping of genotype to phenotype includes complex interactions with the environment or even the sex of an organism that can modulate the expressed phenotype. Line-cross analysis is a powerful quantitative genetics method to infer genetic architecture by analysing the mean phenotype value of two diverged strains and a series of subsequent crosses and backcrosses. However, it has been difficult to account for complex interactions with the environment or sex within this framework. We have developed extensions to line-cross analysis that allow for gene by environment and gene by sex interactions. Using extensive simulation studies and reanalysis of empirical data, we show that our approach can account for both unintended environmental variation when crosses cannot be reared in a common garden and can be used to test for the presence of gene by environment or gene by sex interactions. In analyses that fail to account for environmental variation between crosses, we find that line-cross analysis has low power and high false-positive rates. However, we illustrate that accounting for environmental variation allows for the inference of adaptive divergence, and that accounting for sex differences in phenotypes allows practitioners to infer the genetic architecture of sexual dimorphism.


Assuntos
Adaptação Fisiológica/genética , Meio Ambiente , Evolução Molecular , Caracteres Sexuais , Animais , Feminino , Genótipo , Masculino , Fenótipo
9.
Proc Natl Acad Sci U S A ; 113(24): E3441-50, 2016 06 14.
Artigo em Inglês | MEDLINE | ID: mdl-27247388

RESUMO

Opioid use for pain management has dramatically increased, with little assessment of potential pathophysiological consequences for the primary pain condition. Here, a short course of morphine, starting 10 d after injury in male rats, paradoxically and remarkably doubled the duration of chronic constriction injury (CCI)-allodynia, months after morphine ceased. No such effect of opioids on neuropathic pain has previously been reported. Using pharmacologic and genetic approaches, we discovered that the initiation and maintenance of this multimonth prolongation of neuropathic pain was mediated by a previously unidentified mechanism for spinal cord and pain-namely, morphine-induced spinal NOD-like receptor protein 3 (NLRP3) inflammasomes and associated release of interleukin-1ß (IL-1ß). As spinal dorsal horn microglia expressed this signaling platform, these cells were selectively inhibited in vivo after transfection with a novel Designer Receptor Exclusively Activated by Designer Drugs (DREADD). Multiday treatment with the DREADD-specific ligand clozapine-N-oxide prevented and enduringly reversed morphine-induced persistent sensitization for weeks to months after cessation of clozapine-N-oxide. These data demonstrate both the critical importance of microglia and that maintenance of chronic pain created by early exposure to opioids can be disrupted, resetting pain to normal. These data also provide strong support for the recent "two-hit hypothesis" of microglial priming, leading to exaggerated reactivity after the second challenge, documented here in the context of nerve injury followed by morphine. This study predicts that prolonged pain is an unrealized and clinically concerning consequence of the abundant use of opioids in chronic pain.


Assuntos
Dor Crônica/metabolismo , Inflamassomos/metabolismo , Microglia/metabolismo , Morfina/farmacologia , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Neuralgia/metabolismo , Corno Dorsal da Medula Espinal/metabolismo , Animais , Dor Crônica/patologia , Dor Crônica/fisiopatologia , Clozapina/análogos & derivados , Clozapina/farmacologia , Interleucina-1beta/metabolismo , Masculino , Microglia/patologia , Neuralgia/patologia , Neuralgia/fisiopatologia , Ratos , Ratos Endogâmicos F344 , Ratos Sprague-Dawley , Corno Dorsal da Medula Espinal/patologia , Corno Dorsal da Medula Espinal/fisiopatologia
10.
Crit Rev Food Sci Nutr ; 57(14): 2970-2995, 2017 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-26529500

RESUMO

Increasing consumer desire for high quality ready-to-eat foods makes thermal pasteurization important to both food producers and researchers. To be in compliance with the Food Safety Modernization Act (FSMA), food companies seek regulatory and scientific guidelines to ensure that their products are safe. Clearly understanding the regulations for chilled or frozen foods is of fundamental importance to the design of thermal pasteurization processes for vegetables that meet food safety requirements. This article provides an overview of the current regulations and guidelines for pasteurization in the U.S. and in Europe for control of bacterial pathogens. Poorly understood viral pathogens, in terms of their survival in thermal treatments, are an increasing concern for both food safety regulators and scientists. New data on heat resistance of viruses in different foods are summarized. Food quality attributes are sensitive to thermal degradation. A review of thermal kinetics of inactivation of quality-related enzymes in vegetables and the effects of thermal pasteurization on vegetable quality is presented. The review also discusses shelf-life of thermally pasteurized vegetables.


Assuntos
Fast Foods/normas , Manipulação de Alimentos/métodos , Qualidade dos Alimentos , Pasteurização/métodos , Verduras , Europa (Continente) , Microbiologia de Alimentos
11.
PLoS Genet ; 10(3): e1004241, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24651471

RESUMO

One of the three most frequently documented copy number variations associated with autism spectrum disorder (ASD) is a 1q21.1 duplication that encompasses sequences encoding DUF1220 protein domains, the dosage of which we previously implicated in increased human brain size. Further, individuals with ASD frequently display accelerated brain growth and a larger brain size that is also associated with increased symptom severity. Given these findings, we investigated the relationship between DUF1220 copy number and ASD severity, and here show that in individuals with ASD (n = 170), the copy number (dosage) of DUF1220 subtype CON1 is highly variable, ranging from 56 to 88 copies following a Gaussian distribution. More remarkably, in individuals with ASD CON1 copy number is also linearly associated, in a dose-response manner, with increased severity of each of the three primary symptoms of ASD: social deficits (p = 0.021), communicative impairments (p = 0.030), and repetitive behaviors (p = 0.047). These data indicate that DUF1220 protein domain (CON1) dosage has an ASD-wide effect and, as such, is likely to be a key component of a major pathway underlying ASD severity. Finally, these findings, by implicating the dosage of a previously unexamined, copy number polymorphic and brain evolution-related gene coding sequence in ASD severity, provide an important new direction for further research into the genetic factors underlying ASD.


Assuntos
Transtorno Autístico/genética , Variações do Número de Cópias de DNA/genética , Dosagem de Genes , Adolescente , Adulto , Transtorno Autístico/patologia , Encéfalo , Criança , Pré-Escolar , Cromossomos Humanos Par 1/genética , Feminino , Duplicação Gênica , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Estrutura Terciária de Proteína
12.
Hum Genet ; 134(1): 67-75, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25287832

RESUMO

DUF1220 protein domains exhibit the greatest human lineage-specific copy number expansion of any protein-coding sequence in the genome, and variation in DUF1220 copy number has been linked to both brain size in humans and brain evolution among primates. Given these findings, we examined associations between DUF1220 subtypes CON1 and CON2 and cognitive aptitude. We identified a linear association between CON2 copy number and cognitive function in two independent populations of European descent. In North American males, an increase in CON2 copy number corresponded with an increase in WISC IQ (R (2) = 0.13, p = 0.02), which may be driven by males aged 6-11 (R (2) = 0.42, p = 0.003). We utilized ddPCR in a subset as a confirmatory measurement. This group had 26-33 copies of CON2 with a mean of 29, and each copy increase of CON2 was associated with a 3.3-point increase in WISC IQ (R (2) = 0.22, p = 0.045). In individuals from New Zealand, an increase in CON2 copy number was associated with an increase in math aptitude ability (R (2) = 0.10 p = 0.018). These were not confounded by brain size. To our knowledge, this is the first study to report a replicated association between copy number of a gene coding sequence and cognitive aptitude. Remarkably, dosage variations involving DUF1220 sequences have now been linked to human brain expansion, autism severity and cognitive aptitude, suggesting that such processes may be genetically and mechanistically inter-related. The findings presented here warrant expanded investigations in larger, well-characterized cohorts.


Assuntos
Aptidão/fisiologia , Encéfalo/metabolismo , Proteínas de Transporte/genética , Cromossomos Humanos Par 1/genética , Cognição/fisiologia , Variações do Número de Cópias de DNA/genética , Inteligência/fisiologia , Adolescente , Adulto , Encéfalo/patologia , Criança , Hibridização Genômica Comparativa/métodos , Feminino , Seguimentos , Humanos , Masculino , Matemática , Tamanho do Órgão , Reação em Cadeia da Polimerase/métodos , Estrutura Terciária de Proteína , Adulto Jovem
13.
Am J Hum Genet ; 91(3): 444-54, 2012 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-22901949

RESUMO

DUF1220 domains show the largest human-lineage-specific increase in copy number of any protein-coding region in the human genome and map primarily to 1q21, where deletions and reciprocal duplications have been associated with microcephaly and macrocephaly, respectively. Given these findings and the high correlation between DUF1220 copy number and brain size across primate lineages (R(2) = 0.98; p = 1.8 × 10(-6)), DUF1220 sequences represent plausible candidates for underlying 1q21-associated brain-size pathologies. To investigate this possibility, we used specialized bioinformatics tools developed for scoring highly duplicated DUF1220 sequences to implement targeted 1q21 array comparative genomic hybridization on individuals (n = 42) with 1q21-associated microcephaly and macrocephaly. We show that of all the 1q21 genes examined (n = 53), DUF1220 copy number shows the strongest association with brain size among individuals with 1q21-associated microcephaly, particularly with respect to the three evolutionarily conserved DUF1220 clades CON1(p = 0.0079), CON2 (p = 0.0134), and CON3 (p = 0.0116). Interestingly, all 1q21 DUF1220-encoding genes belonging to the NBPF family show significant correlations with frontal-occipital-circumference Z scores in the deletion group. In a similar survey of a nondisease population, we show that DUF1220 copy number exhibits the strongest correlation with brain gray-matter volume (CON1, p = 0.0246; and CON2, p = 0.0334). Notably, only DUF1220 sequences are consistently significant in both disease and nondisease populations. Taken together, these data strongly implicate the loss of DUF1220 copy number in the etiology of 1q21-associated microcephaly and support the view that DUF1220 domains function as general effectors of evolutionary, pathological, and normal variation in brain size.


Assuntos
Encéfalo/patologia , Variações do Número de Cópias de DNA , Tamanho do Órgão , Animais , Sequência de Bases , Evolução Biológica , Cromossomos Humanos Par 1 , Hibridização Genômica Comparativa , Duplicação Gênica , Humanos , Megalencefalia/genética , Microcefalia/genética
14.
Ann Surg ; 262(3): 426-33; discussion 432-3, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26258311

RESUMO

OBJECTIVES: To determine the safety and efficacy of cryopreserved packed red blood cell (CPRBC) transfusion in trauma patients. BACKGROUND: Liquid packed red blood cells (LPRBCs) have an abbreviated shelf-life and worsening storage lesion with age. CPRBCs are frozen 2 to 6 days after donation, stored up to 10 years, and are available for 14 days after thawing and washing. CPRBCs can be utilized in diverse settings, but the effect on clinical outcomes is unknown. METHODS: We performed a prospective, randomized, double-blind study at 5 level 1 trauma centers. Stable trauma patients requiring transfusion were randomized to young LPRBCs (≤14 storage days), old LPRBCs (>14 storage days), or CPRBCs. Tissue oxygenation (StO2), biochemical and inflammatory mediators were measured, and clinical outcomes were determined. RESULTS: Two hundred fifty-six patients with well-matched injury severity and demographics (P > 0.2) were randomized (84 young, 86 old, and 86 CPRBCs). Pretransfusion and final hematocrits were similar (P > 0.68). Patients in all groups received the same number of units postrandomization (2 [1-4]; P > 0.05). There was no difference in the change in tissue oxygenation between groups. CPRBCs contained less α2-macrogobulin, haptoglobin, C-reactive protein, and serum amyloid P (P < 0.001). Organ failure, infection rate, and mortality did not differ between groups (P > 0.2). CONCLUSIONS: Transfusion of CPRBCs is as safe and effective as transfusion of young and old LPRBCs and provides a mechanism to deliver PRBCs in a wide variety of settings.


Assuntos
Preservação de Sangue/métodos , Segurança do Sangue , Criopreservação/métodos , Transfusão de Eritrócitos/métodos , Ferimentos e Lesões/terapia , Adulto , Fatores Etários , Idoso , Análise de Variância , Bancos de Sangue , Terapia Combinada , Método Duplo-Cego , Transfusão de Eritrócitos/efeitos adversos , Feminino , Humanos , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Medição de Risco , Estatísticas não Paramétricas , Taxa de Sobrevida , Fatores de Tempo , Centros de Traumatologia , Resultado do Tratamento , Ferimentos e Lesões/diagnóstico , Ferimentos e Lesões/mortalidade
15.
Stereotact Funct Neurosurg ; 93(1): 25-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25613902

RESUMO

BACKGROUND: Deep brain stimulation (DBS) at the subthalamic nucleus (STN) or globus pallidus internus (GPi) can effectively treat the motor symptoms of Parkinson's disease, but dual implantation is rare. We report the first cases of additional GPi stimulation as rescue therapy for disabling dyskinesias following successful STN stimulation. METHODS: Two patients, initially treated with bilateral STN DBS, underwent subsequent bilateral GPi DBS after the development of refractory dyskinesias within 1 and 6 years of STN surgery. Patients were evaluated with the Unified Parkinson's Disease Rating Scale (UPDRS) before and after surgeries for STN and GPi DBS. RESULTS: GPi DBS effectively suppressed dyskinesias in these patients and improved their quality of life, as demonstrated by their videos and UPDRS scores. CONCLUSIONS: Additional bilateral GPi DBS may be considered in the rare instance of patients who develop refractory dyskinesias early or late after bilateral STN DBS.


Assuntos
Estimulação Encefálica Profunda/métodos , Globo Pálido/fisiopatologia , Transtornos Parkinsonianos/terapia , Terapia de Salvação/métodos , Núcleo Subtalâmico/fisiopatologia , Adulto , Idoso , Antiparkinsonianos/uso terapêutico , Terapia Combinada , Estimulação Encefálica Profunda/instrumentação , Resistência a Medicamentos , Eletrodos Implantados , Feminino , Humanos , Imageamento Tridimensional , Masculino , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/tratamento farmacológico , Transtornos Parkinsonianos/fisiopatologia , Qualidade de Vida , Recidiva , Tomografia Computadorizada por Raios X
16.
Mamm Genome ; 25(5-6): 235-43, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24553828

RESUMO

It has been well documented that genetic factors can influence predisposition to develop alcoholism. While the underlying genomic changes may be of several types, two of the most common and disease associated are copy number variations (CNVs) and sequence alterations of protein coding regions. The goal of this study was to identify CNVs and single-nucleotide polymorphisms that occur in gene coding regions that may play a role in influencing the risk of an individual developing alcoholism. Toward this end, two mouse strains were used that have been selectively bred based on their differential sensitivity to alcohol: the Inbred long sleep (ILS) and Inbred short sleep (ISS) mouse strains. Differences in initial response to alcohol have been linked to risk for alcoholism, and the ILS/ISS strains are used to investigate the genetics of initial sensitivity to alcohol. Array comparative genomic hybridization (arrayCGH) and exome sequencing were conducted to identify CNVs and gene coding sequence differences, respectively, between ILS and ISS mice. Mouse arrayCGH was performed using catalog Agilent 1 × 244 k mouse arrays. Subsequently, exome sequencing was carried out using an Illumina HiSeq 2000 instrument. ArrayCGH detected 74 CNVs that were strain-specific (38 ILS/36 ISS), including several ISS-specific deletions that contained genes implicated in brain function and neurotransmitter release. Among several interesting coding variations detected by exome sequencing was the gain of a premature stop codon in the alpha-amylase 2B (AMY2B) gene specifically in the ILS strain. In total, exome sequencing detected 2,597 and 1,768 strain-specific exonic gene variants in the ILS and ISS mice, respectively. This study represents the most comprehensive and detailed genomic comparison of ILS and ISS mouse strains to date. The two complementary genome-wide approaches identified strain-specific CNVs and gene coding sequence variations that should provide strong candidates to contribute to the alcohol-related phenotypic differences associated with these strains.


Assuntos
Alcoolismo/genética , Variações do Número de Cópias de DNA , Exoma , Camundongos/genética , Animais , Sequência de Bases , Hibridização Genômica Comparativa , Humanos , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único
17.
J Autism Dev Disord ; 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38782882

RESUMO

PURPOSE: There is a paucity in research supporting procedures to teach skills needed during an individual's menstrual cycle. The purpose of this study was two-fold. First, a literature review was conducted to find publications on the topic of menstrual care. Second, the studies found were evaluated against What Works Clearinghouse™ (WWC) standards and analyzed to determine the presence of clinical components relevant to teaching these skills. METHODS: A literature review was conducted according to PRISMA guidelines. The review identified publications that taught menstrual care skills to individuals diagnosed with autism spectrum disorder (ASD) or other disabilities. The review focused specifically on studies that employed single-subject research methodology. Studies found were analyzed against the WWC's criteria to assess the rigor of each studies' methodology. Finally, studies were categorized across indicators that are clinically relevant to teaching menstrual care skills. RESULTS: The results highlighted a lack of empirical support for teaching menstrual care skills. 7 single-subject design studies were identified in the previous 40 years of research. One study met all criteria required to receive the WWC's highest rating. CONCLUSION: The complexity and private nature of menstrual care skills can make intervention development daunting. This paper was intended to provide menstrual care researchers with guidance in implementing high-quality studies. Additionally, scientist-practitioners can find guidance regarding important considerations to support programming that is both effective and respectful.

18.
bioRxiv ; 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38915613

RESUMO

Many phenotypic traits have a polygenic genetic basis, making it challenging to learn their genetic architectures and predict individual phenotypes. One promising avenue to resolve the genetic basis of complex traits is through evolve-and-resequence experiments, in which laboratory populations are exposed to some selective pressure and trait-contributing loci are identified by extreme frequency changes over the course of the experiment. However, small laboratory populations will experience substantial random genetic drift, and it is difficult to determine whether selection played a roll in a given allele frequency change. Predicting how much allele frequencies change under drift and selection had remained an open problem well into the 21st century, even those contributing to simple, monogenic traits. Recently, there have been efforts to apply the path integral, a method borrowed from physics, to solve this problem. So far, this approach has been limited to genic selection, and is therefore inadequate to capture the complexity of quantitative, highly polygenic traits that are commonly studied. Here we extend one of these path integral methods, the perturbation approximation, to selection scenarios that are of interest to quantitative genetics. In particular, we derive analytic expressions for the transition probability (i.e., the probability that an allele will change in frequency from x , to y in time t ) of an allele contributing to a trait subject to stabilizing selection, as well as that of an allele contributing to a trait rapidly adapting to a new phenotypic optimum. We use these expressions to characterize the use of allele frequency change to test for selection, as well as explore optimal design choices for evolve-and-resequence experiments to uncover the genetic architecture of polygenic traits under selection.

19.
Artigo em Inglês | MEDLINE | ID: mdl-38679853

RESUMO

STUDY DESIGN: This was a retrospective cohort study. OBJECTIVE: To determine the proportion of referrals diverted by the SVFC from traditional outpatient clinic management. SUMMARY OF BACKGROUND DATA: The consistent rise in demand for orthopaedic outpatient clinic services is creating marked challenges to the provision of quality care. Virtual fracture clinics for upper and lower limb fractures have reduced the burden on outpatient clinics through telephone-based management of these conditions. To date, no study describes the expansion of virtual care to the spine trauma population. METHODS: A study of spine fractures referred to the RMH Department of Orthopaedic Surgery was conducted comparing outcomes prior to (January to December 2021) and following (July 2022 to November 2023) implementation of a spine virtual fracture clinic (SVFC). The primary aim of this study was to investigate the effects of a telephone-based SVFC on outpatient clinic activity, represented by the proportion of referrals discharged without requiring in-person clinic review. Secondary aims included appointment utilisation, lost to follow-up rates, duration of care, missed or mis-diagnoses, unplanned operations and complications. RESULTS: A total of 91.9% (n=666) referrals managed by the SVFC were discharged without in-person clinic attendance. Compared to outpatient clinic management (n=150 referrals), SVFC implementation was associated with reductions in the average number of consultations per referral (1.8 versus 2.4, P<0.001), appointments not attended (5% versus 13%, P<0.001), referrals lost to follow-up (0 versus 10.7%, P<0.001) and a shorter duration of care (median 48 d versus 58 d, P<0.001). A total of 65 patients (8.1%) were redirected to in-person clinics of which three underwent surgical intervention. No diagnostic errors, complications or adverse events were identified. CONCLUSION: This study demonstrates that a SVFC is an effective and safe alternative pathway to traditional hospital-based outpatient clinics with low-risk for any adverse outcomes.

20.
bioRxiv ; 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38106046

RESUMO

Reasoning about someone's thoughts and intentions - i.e., forming a theory of mind - is an important aspect of social cognition that relies on association areas of the brain that have expanded disproportionately in the human lineage. We recently showed that these association zones comprise parallel distributed networks that, despite occupying adjacent and interdigitated regions, serve dissociable functions. One network is selectively recruited by theory of mind processes. What circuit properties differentiate these parallel networks? Here, we show that social cognitive association areas are intrinsically and selectively connected to regions of the anterior medial temporal lobe that are implicated in emotional learning and social behaviors, including the amygdala at or near the basolateral complex and medial nucleus. The results suggest that social cognitive functions emerge through coordinated activity between amygdala circuits and a distributed association network, and indicate the medial nucleus may play an important role in social cognition in humans.

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