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1.
Lang Speech Hear Serv Sch ; 50(4): 493-505, 2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-31600466

RESUMO

Purpose In this clinical focus article, the authors argue for robust vocabulary instruction with emergent bilingual learners both in inclusive classroom settings and in clinical settings for emergent bilinguals with language and literacy disorders. Robust vocabulary instruction focuses on high-utility academic words that carry abstract meanings and appear in texts across content areas (e.g., diminish, ambiguous). For emergent bilinguals, vocabulary instruction should be infused with morphological analysis emphasizing Latin roots to support students to problem-solve meanings of new, unfamiliar words and make connections between semantic clusters of related words in English. An innovative and critical component of this instructional approach is to support emergent bilinguals to leverage their linguistic resources by making connections to their home languages. Five design principles for teaching emergent bilinguals to engage in morphological analysis with Latin roots are presented. These design principles are illustrated with examples of evidence-based practices from intervention materials for instruction. Examples are drawn from varied instructional contexts. We present a synthesis of findings from implementation trials of our instructional program. Finally, application of the approach to clinical settings for speech-language pathologists are addressed. Conclusions Clinical practice with emergent bilingual learners at intermediate and advanced stages of proficiency should incorporate robust vocabulary instruction for emergent bilinguals from a variety of cultural and linguistic backgrounds. Clinicians should focus on high-utility academic words, and they should teach morphological problem-solving skills for generative word learning. Clinicians should leverage emergent bilingual learners' home language resources for developing morphological problem-solving skill. Supplemental Material https://doi.org/10.23641/asha.9745169.

2.
Drug Alcohol Depend ; 205: 107603, 2019 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-31605959

RESUMO

BACKGROUND: Recent research has highlighted the growing trend of alcohol preloading before a night out. We wished to look at people's motivations for preloading, their estimation for drinking during the night, and assess the impact that preloading has on how inebriated people become across the night as measured by Breath Approximated blood Alcohol Content (BrAC). METHOD: We randomly surveyed and breath-tested patrons as they entered and exited Night Time Entertainment Districts (NEDs) in Brisbane, Queensland. We obtained 360 participants who were encouraged to contact us at the end of their night, compensating them for their time with a taxi voucher. Of these, 143 people returned and completed an exit questionnaire. FINDINGS: We found that people were motivated to preload in order to save money and socialise, were likely to drink more than they predicted over the course of the night, and were more surprised by their alcohol reading the higher their BrAC; this trajectory displayed little difference between men and women. It was further found that, for men, personality contributed 19% of the variance to exit BrAC, but entry BrAC accounted for nearly 38% of unique variance. For women, body mass index significantly predicted exit BrAC (9% unique variance), but entry BrAC accounted for nearly 30% unique variance. INTERPRETATION: To reduce general levels of intoxication in city NEDs, interventions should focus on having people come in earlier, less drunk, and be taught to have more realistic appraisals of their drinking.

3.
P R Health Sci J ; 38(3): 170-175, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31536630

RESUMO

OBJECTIVE: Skin biomechanics are physical properties that protect the body from injury. Little is known about differences in skin biomechanics in racial/ethnic groups and the role of skin color in these differences. The purpose of this study was to determine the relationship between skin biomechanics (viscoelasticity, hydration) and skin color, when controlling for demographic and health-related variables in a sample of Puerto Rican and non-Puerto Rican women. METHODS: We performed a secondary analysis of data from 545 women in a longitudinal, observational study of skin injury in Puerto Rico and the United States. Data included measures of skin viscoelasticity, skin hydration, skin color, demographic, and health related variables. Skin color was measured by spectrophotometry (L* - lightness/darkness, a*- redness/greenness, b* - yellowness/blueness). The sample was 12.5% Puerto Rican, 27.3% non-Puerto Rican Latina, 28.8% Black, 28.6% White, and 2.8% Other. RESULTS: Regression analyses showed that: 1) higher levels of skin viscoelasticity were associated with lower age, higher BMI, and identifying as non-Puerto Rican Latina as compared to Puerto Rican; (all p < .001); and 2) higher levels of hydration were associated with lower L* values, higher health status, lower BMI, and identifying as non-Puerto Rican Latina, White, or Other as compared to Puerto Rican (all p < .05). CONCLUSION: When adjusting for skin color, Puerto Rican women had lower viscoelasticity and hydration as compared to other groups. Puerto Rican women may be at long-term risk for skin alterations, including pressure injury, as they age or become chronically ill.

4.
Am J Hum Genet ; 105(3): 493-508, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31447100

RESUMO

Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcription, and repair. Due to the important structural and regulatory roles played by histones, it is not surprising that histone functional dysregulation or aberrant levels of histones can have severe consequences for multiple cellular processes and ultimately might affect development or contribute to cell transformation. Recently, germline frameshift mutations involving the C-terminal tail of HIST1H1E, which is a widely expressed member of the linker histone family and facilitates higher-order chromatin folding, have been causally linked to an as-yet poorly defined syndrome that includes intellectual disability. We report that these mutations result in stable proteins that reside in the nucleus, bind to chromatin, disrupt proper compaction of DNA, and are associated with a specific methylation pattern. Cells expressing these mutant proteins have a dramatically reduced proliferation rate and competence, hardly enter into the S phase, and undergo accelerated senescence. Remarkably, clinical assessment of a relatively large cohort of subjects sharing these mutations revealed a premature aging phenotype as a previously unrecognized feature of the disorder. Our findings identify a direct link between aberrant chromatin remodeling, cellular senescence, and accelerated aging.

5.
Biomed Pharmacother ; 118: 109317, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31404777

RESUMO

Cancer progression is a complex multistep process comprising of angiogenesis of the primary tumor, its invasion into the surrounding stroma and its migration to distant organs to produce metastases. Nutritional compounds of the "capsaicinoid" family regulate angiogenesis, invasion and metastasis of tumors. Capsaicinoids display robust anti-angiogenic activity in both cell culture and mice models. However, conflicting reports exist about the effect of capsaicinoids on invasion of metastasis of cancers. While some published reports have described an anti-invasive and anti-metastatic role for capsaicinoids, others have argued that capsaicinoids stimulate invasion and metastasis of cancers. The present review article summarizes these findings involving the bioactivity of capsaicin in angiogenesis, invasion and metastasis of cancer. A survey of literature indicate that they are several articles summarizing the growth-inhibitory activity of capsaicinoids but few describe its effects on angiogenesis, invasion and metastasis in detail. Our review article fills this gap of knowledge. The discovery of a second generation of natural and synthetic capsaicin analogs (with anti-tumor activity) will pave the way to improved strategies for the treatment of several human cancers.

6.
Ethn Dis ; 29(3): 505-512, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31367171

RESUMO

The Fitzpatrick Skin Phototypes (FSP) were developed to classify skin color and response to ultraviolet radiation. FSP are used clinically to assess risk for sunburn and skin cancer. Our aim was to determine the criterion-related validity of self-reported FSP when compared with skin color and sunburn history, controlling for age, race/ethnicity, and seasonality/geography. We performed a secondary analysis of data (N=466) from an observational study. The racial/ethnic composition of the sample was 45% White/White Hispanic (WWH), 40% Black/Black Hispanic (BBH), and 15% Other Identities. Outcome measures were self-reported FSP and sunburn history, as well as physiological measures of skin color (L* lightness/darkness, a* redness/greenness, b* yellowness/blueness). Correlation between FSP and L* was -.77 (95% CI -.81, -.73; P<.001). Although 60% of the variance in FSP was accounted for by L* values for the entire sample, only 5% of the variance was accounted for among BBH participants (r=-.23), and up to 30% for WWH/Other Identity participants (r=-.48 and -.52). Multiple regression analysis indicated L* and b* values, sunburn history, and race/ethnicity, but not geography/seasonality or a* values significantly and collectively accounted for 72% of the variance in FSP. While the criterion validity of FSP was established by the strong relationship between L* values and FSP for the entire sample, when examined at the level of individual racial/ethnic subgroups, criterion validity of FSP was not demonstrated. When self-reported FSP are used for clinical skin assessment and sun cancer screening, they provide a restricted range of options for people with darker skin that does not capture variations in their skin color. Inaccuracy of clinical data may lead to unequal treatment or inadequate cancer risk assessment.

7.
Int J Mol Sci ; 20(17)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438500

RESUMO

Contrast-induced acute kidney injury (CI-AKI) is the third most common cause of hospital associated kidney damage. Potential mechanisms of CI-AKI may involve diminished renal hemodynamics, inflammatory responses, and direct cytotoxicity. The hypothesis for this study is that diatrizoic acid (DA) induces direct cytotoxicity to human proximal tubule (HK-2) cells via calcium dysregulation, mitochondrial dysfunction, and oxidative stress. HK-2 cells were exposed to 0-30 mg I/mL DA or vehicle for 2-24 h. Conversion of 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) and trypan blue exclusion indicated a decrease in mitochondrial and cell viability within 2 and 24 h, respectively. Mitochondrial dysfunction was apparent within 8 h post exposure to 15 mg I/mL DA as shown by Seahorse XF cell mito and Glycolysis Stress tests. Mitophagy was increased at 8 h by 15 mg I/mL DA as confirmed by elevated LC3BII/I expression ratio. HK-2 cells pretreated with calcium level modulators BAPTA-AM, EGTA, or 2-aminophenyl borinate abrogated DA-induced mitochondrial damage. DA increased oxidative stress biomarkers of protein carbonylation and 4-hydroxynonenol (4HNE) adduct formation. Caspase 3 and 12 activation was induced by DA compared to vehicle at 24 h. These studies indicate that clinically relevant concentrations of DA impair HK-2 cells by dysregulating calcium, inducing mitochondrial turnover and oxidative stress, and activating apoptosis.

8.
J Vis Exp ; (149)2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31424434

RESUMO

The New York State Department of Health (NYSDOH) Rabies Laboratory receives between 6,000 to 9,000 specimens annually and performs rabies testing for the entire state, with the exception of New York City. The Rabies laboratory necropsies a variety of animals ranging in size from bats to bovids. Most of these specimens are animals exhibiting neurological signs, however, less than 10% actually test positive for rabies; implying trauma, lesions or other infectious agents as the cause of these symptoms. Due to the risk of aerosolizing undiagnosed infectious agents, the Rabies Laboratory does not use power tools or saws. Three necropsy techniques will be presented for animals whose skulls are impenetrable with scissors. The laboratory has implemented these techniques to decrease potential exposure to infectious agents, eliminate unnecessary manipulation of the specimen and reduce processing time. The advantages of a preferred technique opposed to another is subject to the trained individual processing the specimen.

9.
Am J Hum Genet ; 105(3): 631-639, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31353024

RESUMO

Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. We performed exome sequencing in individuals with neurodevelopmental disorders. The cohort was identified using known Matchmaker Exchange nodes such as GeneMatcher. This method identified 15 individuals from 12 unrelated families with heterozygous pathogenic DLL1 variants (nonsense, missense, splice site, and one whole gene deletion). The most common features in our cohort were intellectual disability, autism spectrum disorder, seizures, variable brain malformations, muscular hypotonia, and scoliosis. We did not identify an obvious genotype-phenotype correlation. Analysis of one splice site variant showed an in-frame insertion of 12 bp. In conclusion, heterozygous DLL1 pathogenic variants cause a variable neurodevelopmental phenotype and multi-systemic features. The clinical and molecular data support haploinsufficiency as a mechanism for the pathogenesis of this DLL1-related disorder and affirm the importance of DLL1 in human brain development.

10.
J Forensic Leg Med ; 66: 120-128, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31299484

RESUMO

PURPOSE: A series of studies suggest that non-Hispanic White women have significantly more injuries than non-Hispanic Black women after sexual assault and consensual sexual intercourse. One explanation for this difference is that the degree of skin protection may vary as skin mechanics and skin pigmentation vary. The aim of the study was to determine the association among genital-anal injury, skin color, skin viscoelasticity and skin hydration in women following consensual sexual intercourse when controlling for age, smoking history, body mass index (BMI), sun exposure, and health status. PROCEDURES: We employed a prospective cohort study design to enroll women 21 years of age or older at two study sites. They underwent two data collection sessions, baseline and follow-up after consensual sexual intercourse. Baseline genital-anal injury identification occurred with a standard forensic examination (direct visualization, nuclear staining with toluidine blue contrast, and colposcopy examination) and measurements of other variables (skin color, skin viscoelasticity, skin hydration, age, smoking history, body mass index [BMI], sun exposure, and health status). Participants were then asked to have consensual sexual intercourse with a male partner of their choice and to return for a second forensic examination for injury detection. Genital-anal injury was regressed on skin color, skin viscoelasticity, skin hydration, age, smoking history, BMI, sun exposure, and health status. FINDINGS: We enrolled 341 participants, 88 non-Hispanic White (25.8%), 54 non-Hispanic Black (15.8%), 190 Hispanic/Latina (55.7), and 9 Other Identities (2.6%). At baseline the genital-anal injury prevalence was 57.77% and at follow-up after consensual sexual intercourse, injury prevalence was 72.73%. External genital injury prevalence was associated with increased L* (lightness) values (Adjusted Odds Ratio [AOR] = 1.98, 95% Confidence Interval [CI] = 1.03, 4.04) and decreased skin elasticity (AOR = 0.96, 95% CI = 0.93, 0.99) at baseline. Increased skin hydration was associated with a significantly higher frequency of external, internal, anal, and total genital-anal injuries (Adjusted Rate Ratio [ARR] > 1.27) at follow-up. Also at the follow-up examination, Hispanic/Latina participants had significantly lower external genital and total genital-anal injury prevalence and frequency as compared to non-Hispanic White participants (AOR < 0.40). CONCLUSIONS: Our findings provide qualified support for the importance of skin color during the forensic examination. Women with lighter skin tones may have skin that is more easily injured than women with darker tones. In contrast, external genital injuries may be more easily identified in women with light as compared to dark skin, a situation that is important in both the health care and criminal justice systems. Additionally, women with decreased viscoelasticity and increased hydration may be more easily injured. These findings support the need to develop forensic procedures that are effective in people across the range of skin colors and to interpret forensic findings considering the innate properties of the skin.


Assuntos
Canal Anal/lesões , Coito , Elasticidade/fisiologia , Genitália Feminina/lesões , Fenômenos Fisiológicos da Pele , Pigmentação da Pele/fisiologia , Adulto , Canal Anal/fisiopatologia , Fenômenos Biomecânicos/fisiologia , Estudos de Coortes , Colposcopia , Grupos de Populações Continentais , Feminino , Medicina Legal , Genitália Feminina/fisiopatologia , Nível de Saúde , Humanos
11.
Plant Cell Environ ; 42(11): 2999-3014, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31314912

RESUMO

Root anatomical phenotypes vary among maize (Zea mays) cultivars and may have adaptive value by modifying the metabolic cost of soil exploration. However, the microbial trade-offs of these phenotypes are unknown. We hypothesized that nodal roots of maize with contrasting cortical anatomy have different patterns of mutualistic and pathogenic fungal colonization. Arbuscular mycorrhizal colonization in the field and mesocosms, root rots in the field, and Fusarium verticillioides colonization in mesocosms were evaluated in maize genotypes with contrasting root cortical anatomy. Increased aerenchyma and decreased living cortical area were associated with decreased mycorrhizal colonization in mesocosm and field experiments with inbred genotypes. In contrast, mycorrhizal colonization of hybrids increased with larger aerenchyma lacunae; this increase coincided with larger root diameters of hybrid roots. F. verticillioides colonization was inversely correlated with living cortical area in mesocosm-grown inbreds, and no relation was found between root rots and living cortical area or aerenchyma in field-grown hybrids. Root rots were positively correlated with cortical cell file number and inversely correlated with cortical cell size. Mycorrhizae and root rots were inversely correlated in field-grown hybrids. We conclude that root anatomy is associated with differential effects on pathogens and mycorrhizal colonization of nodal roots in maize.

12.
Adv Cancer Res ; 144: 263-298, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31349900

RESUMO

Cytotoxic chemotherapy is the mainstay of cancer treatment. Conventional chemotherapeutic agents do not distinguish between normal and neoplastic cells. This leads to severe toxic side effects, which may necessitate the discontinuation of treatment in some patients. Recent research has identified key molecular events in the initiation and progression of cancer, promoting the design of targeted therapies to selectively kill tumor cells while sparing normal cells. Although, the side effects of such drugs are typically milder than conventional chemotherapies, some off-target effects still occur. Another serious challenge with all chemotherapies is the acquisition of chemoresistance upon prolonged exposure to the drug. Therefore, identifying supplementary agents that sensitize tumor cells to chemotherapy-induced apoptosis and help minimize drug resistance would be valuable for improving patient tolerance and response to chemotherapy. The use of effective supplementary agents provides a twofold advantage in combination with standard chemotherapy. First, by augmenting the activity of the chemotherapeutic drug it can lower the dose needed to kill tumor cells and decrease the incidence and severity of treatment-limiting side effects. Second, adjuvant therapies that lower the effective dose of chemotherapy may delay/prevent the development of chemoresistance in tumors. Capsaicinoids, a major class of phytochemical compounds isolated from chili peppers, have been shown to improve the efficacy of several anti-cancer drugs in cell culture and animal models. The present chapter summarizes the current knowledge about the chemosensitizing activity of capsaicinoids with conventional and targeted chemotherapeutic drugs, highlighting the potential use of capsaicinoids in novel combination therapies to improve the therapeutic indices of conventional and targeted chemotherapeutic drugs in human cancers.

13.
J Exp Bot ; 70(19): 5327-5342, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31199461

RESUMO

Soil biota have important effects on crop productivity, but can be difficult to study in situ. Laser ablation tomography (LAT) is a novel method that allows for rapid, three-dimensional quantitative and qualitative analysis of root anatomy, providing new opportunities to investigate interactions between roots and edaphic organisms. LAT was used for analysis of maize roots colonized by arbuscular mycorrhizal fungi, maize roots herbivorized by western corn rootworm, barley roots parasitized by cereal cyst nematode, and common bean roots damaged by Fusarium. UV excitation of root tissues affected by edaphic organisms resulted in differential autofluorescence emission, facilitating the classification of tissues and anatomical features. Samples were spatially resolved in three dimensions, enabling quantification of the volume and distribution of fungal colonization, western corn rootworm damage, nematode feeding sites, tissue compromised by Fusarium, and as well as root anatomical phenotypes. Owing to its capability for high-throughput sample imaging, LAT serves as an excellent tool to conduct large, quantitative screens to characterize genetic control of root anatomy and interactions with edaphic organisms. Additionally, this technology improves interpretation of root-organism interactions in relatively large, opaque root segments, providing opportunities for novel research investigating the effects of root anatomical phenes on associations with edaphic organisms.

14.
J Exp Bot ; 70(19): 5311-5325, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31231768

RESUMO

Root phenotypes that improve nitrogen acquisition are avenues for crop improvement. Root anatomy affects resource capture, metabolic cost, hydraulic conductance, anchorage, and soil penetration. Cereal root phenotyping has centered on primary, seminal, and early nodal roots, yet critical nitrogen uptake occurs when the nodal root system is well developed. This study examined root anatomy across nodes in field-grown maize (Zea mays L.) hybrid and inbred lines under high and low nitrogen regimes. Genotypes with high nitrogen use efficiency (NUE) had larger root diameter and less cortical aerenchyma across nodes under stress than genotypes with lower NUE. Anatomical phenes displayed slightly hyperallometric relationships to shoot biomass. Anatomical plasticity varied across genotypes; most genotypes decreased root diameter under stress when averaged across nodes. Cortex, stele, total metaxylem vessel areas, and cortical cell file and metaxylem vessel numbers scaled strongly with root diameter across nodes. Within nodes, metaxylem vessel size and cortical cell size were correlated, and root anatomical phenotypes in the first and second nodes were not representative of subsequent nodes. Node, genotype, and nitrogen treatment affect root anatomy. Understanding nodal variation in root phenes will enable the development of plants that are adapted to low nitrogen conditions.

15.
16.
Am J Hematol ; 94(6): 689-696, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30916794

RESUMO

Vaso-occlusive pain events (VOE) are the leading cause of emergency department (ED) visits in sickle cell anemia (SCA). This study assessed the variability in use of intravenous fluids (IVFs), and the association of normal saline bolus (NSB), on pain and other clinical outcomes in children with SCA, presenting to pediatric emergency departments (PED) with VOE. Four-hundred charts of children age 3-21 years with SCA/VOE receiving parenteral opioids at 20 high-volume PEDs were evaluated in a retrospective study. Data on type and amount of IVFs used were collected. Patients were divided into two groups: those who received NSB and those who did not. The association of NSB use on change in pain scores and admission rates was evaluated. Among 400 children studied, 261 (65%) received a NSB. Mean age was 13.8 ± 4.9 years; 46% were male; 92% had hemoglobin-SS. The IVFs (bolus and/or maintenance) were used in 84% of patients. Eight different types of IVFs were utilized and IVF volume administered varied widely. Mean triage pain scores were similar between groups, but improvement in pain scores from presentation-to-ED-disposition was smaller in the NSB group (2.2 vs 3.0, P = .03), while admission rates were higher (71% vs 59%, P = .01). Use of NSB remained associated with poorer final pain scores and worse change in pain scores in our multivariable model. In conclusion, wide variations in practice utilizing IVFs are common. NSB is given to >50% of children with SCA/VOE, but is associated with poorer pain control; a controlled prospective trial is needed to determine causality.

17.
Pediatrics ; 143(3)2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30783022

RESUMO

BACKGROUND: The National Institute on Alcohol Abuse and Alcoholism (NIAAA) 2-question screen is a valid adolescent alcohol screening tool. No studies have examined if this tool predicts future alcohol problems. We conducted a study at 16 pediatric emergency departments to determine the tool's predictive validity for alcohol misuse and alcohol use disorders (AUDs). METHODS: Participants (N = 4834) completed a baseline assessment battery. A subsample of participants completed the battery at 1, 2, and 3 years follow up. RESULTS: Of the 2209 participants assigned to follow-up, 1611 (73%) completed a 1-year follow-up, 1591 (72%) completed a 2-year follow-up, and 1377 (62%) completed a 3-year follow-up. The differences in AUDs between baseline NIAAA screen nondrinkers and lower-risk drinkers were statistically significant at 1 year (P = .0002), 2 years (P <.0001), and 3 years (P = .0005), as were the differences between moderate- and highest-risk drinkers at 1 and 2 years (P < .0001 and P = .0088, respectively) but not at 3 years (P = .0758). The best combined score for sensitivity (86.2% at 1 year, 75.6% at 2 years, and 60.0% at 3 years) and specificity (78.1% at 1 year, 79.2% at 2 years, and 80.0% at 3 years) was achieved by using "lower risk" and higher as a cutoff for the prediction of a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis. CONCLUSIONS: The NIAAA 2-question screen can accurately characterize adolescent risk for future AUDs. Future studies are needed to determine optimaluse of the screen.


Assuntos
Alcoolismo/diagnóstico , Serviço Hospitalar de Emergência/normas , Inquéritos e Questionários/normas , Consumo de Álcool por Menores , Adolescente , Alcoolismo/epidemiologia , Alcoolismo/terapia , Criança , Feminino , Seguimentos , Humanos , Masculino , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Fatores de Risco , Fatores de Tempo , Consumo de Álcool por Menores/prevenção & controle
18.
Prehosp Emerg Care ; 23(6): 862-869, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30793627

RESUMO

Background: Recent studies demonstrate an association between spinal immobilization and neck pain, increased use of radiographs, and increased admission rates for pediatric trauma patients. There is an increasing trend toward spinal protection protocols that limit the use of backboards in trauma patients. However, many of these protocols do not address the youngest patients. Objectives: The objective was to analyze whether implementation of a selective prehospital pediatric spinal protection protocol was associated with a reduction in spinal imaging, hospital admission rates, and Emergency Department (ED) length of stay (LOS). Methods: We conducted a single center retrospective chart review to assess the effect of implementing a new selective pediatric spinal immobilization protocol in an EMS system. Patients transported to the same center from a neighboring EMS jurisdiction without a protocol change were analyzed for comparison. We extracted data for all pediatric patients with trauma-related discharge diagnoses transported by EMS to a pediatric trauma center for one year before and after the implementation of the protocol. Results: There were 878 eligible trauma patients transported under the new protocol, compared to 782 transported prior to implementation. We did not find a significant difference in the percentage of trauma patients who received spinal imaging pre- and post-protocol change (20% vs. 18%, OR 0.84 [95% CI 0.66, 1.07]), but did observe a significant reduction in the proportion of trauma patients who were admitted to the hospital (25% vs. 18%, OR 0.66 [95% CI 0.52, 0.83]). This reduced admission rate was not observed in the neighboring jurisdiction. Conclusions: Implementation of a selective spinal immobilization protocol was associated with reduced admission rates, but did not significantly reduce rates of plain radiographs.

19.
Subst Use Misuse ; 54(6): 1007-1016, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30727811

RESUMO

BACKGROUND: The pediatric emergency department (PED) represents an opportune time for alcohol and drug screening. The National Institute of Alcohol Abuse and Alcoholism (NIAAA) recommends a two-question alcohol screen for adolescents as a predictor of alcohol and drug misuse. OBJECTIVE: A multi-site PED study was conducted to determine the association between the NIAAA two-question alcohol screen and adolescent cannabis use disorders (CUD), cigarette smoking, and lifetime use of other drugs. METHODS: Participants included 12-17-year olds (n = 4834) treated in one of 16 participating PEDs. An assessment battery, including the NIAAA two-question screen and other measures of alcohol, tobacco and drug use, was self-administered on a tablet computer. RESULTS: A diagnosis of CUD, lifetime tobacco use or lifetime drug use was predicted by any self-reported alcohol use in the past year, which indicates a classification of moderate risk for middle school ages and low risk for high school ages on the NIAAA two-question screen. Drinking was most strongly predictive of a CUD, somewhat weaker for lifetime tobacco use, and weakest for lifetime drug use. This same pattern held for high school and middle school students and was stronger for high school students over middle school students for all three categories. This association was also found across gender, ethnicity and race. The association was strongest for CUD for high school students, sensitivity 81.7% (95% CI, 77.0, 86.5) and specificity 70.4% (95% CI, 68.6, 72.1). Conclusions/Importance: A single question about past year alcohol use can provide valuable information about other substance use, particularly marijuana.

20.
Neurology ; 92(11): e1238-e1249, 2019 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-30737342

RESUMO

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

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