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1.
Pediatr Blood Cancer ; : e31118, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38809413

RESUMO

Pediatric renal tumors are among the most common pediatric solid malignancies. Surgical resection is a key component in the multidisciplinary therapy for children with kidney tumors. Therefore, it is imperative that surgeons caring for children with renal tumors fully understand the current standards of care in order to provide appropriate surgical expertise within this multimodal framework. Fortunately, the last 60 years of international, multidisciplinary pediatric cancer cooperative group studies have enabled high rates of cure for these patients. This review will highlight the international surgical approaches to pediatric patients with kidney cancer to help surgeons understand the key differences and similarities between the European (International Society of Pediatric Oncology) and North American (Children's Oncology Group) recommendations.

2.
Am J Med Genet A ; 185(7): 2190-2197, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33931933

RESUMO

Spinal muscular atrophy with congenital bone fractures 2 (SMABF2), a type of arthrogryposis multiplex congenita (AMC), is characterized by congenital joint contractures, prenatal fractures of long bones, and respiratory distress and results from biallelic variants in ASCC1. Here, we describe an infant with severe, diffuse hypotonia, congenital contractures, and pulmonary hypoplasia characteristic of SMABF2, with the unique features of cleft palate, small spleen, transverse liver, and pulmonary thromboemboli with chondroid appearance. This infant also had impaired coagulation with diffuse petechiae and ecchymoses which has only been reported in one other infant with AMC. Using trio whole genome sequencing, our proband was identified to have biallelic variants in ASCC1. Using deep next generation sequencing of parental cDNA, we characterized alteration of splicing encoded by the novel, maternally inherited ASCC1 variant (c.297-8 T > G) which provides a mechanism for functional pathogenicity. The paternally inherited ASCC1 variant is a rare nonsense variant (c.466C > T; p.Arg156*) that has been previously identified in one other infant with AMC. This report extends the phenotypic characteristics of ASCC1-associated AMC (SMABF2) and describes a novel intronic variant that partially disrupts RNA splicing.


Assuntos
Artrogripose/genética , Proteínas de Transporte/genética , Atrofia Muscular Espinal/genética , Artrogripose/diagnóstico por imagem , Artrogripose/fisiopatologia , Códon sem Sentido/genética , Feminino , Humanos , Recém-Nascido , Atrofia Muscular Espinal/diagnóstico por imagem , Atrofia Muscular Espinal/fisiopatologia , Sequenciamento Completo do Genoma
3.
Environ Entomol ; 47(2): 292-299, 2018 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-29438476

RESUMO

Winter cover crop mulches can diversify agricultural habitats and provide a range of benefits for crop production and pest management. Here we report the influence of strip tilled winter cover crop mulches on arthropod abundance in organic vegetable plots. Crookneck squash (Cucurbita pepo L.; Cucurbitales: Cucurbitaceae) was direct seeded into mowed and strip tilled barley (Hordeum vulgare L.; Poales: Poaceae), crimson clover (Trifolium incarnatum L.; Fabales: Fabaceae), a barley + crimson clover mixture, or a no-cover crop control. Arthropods on squash plants were assessed weekly using visual counts. Seed predation was assessed using weed seed arenas. In 2013, mixed species cover crops produced the most ground cover, fewest weeds, and largest squash plants, but herbivore and predator abundance were not correlated with any of those factors. In 2014, mixed species cover crops again produced the most ground cover and fewest weeds, but the largest squash plants were found in no-cover crop control plots, which also had the highest herbivore abundance per plant. Predator and herbivore abundance were positively correlated with squash plant size in 2014. There were no differences in seed predation across treatments. Differences in ground cover biomass and weed presence between the 2 yr may have contributed to differences in squash plant quality and subsequent herbivore abundance between seasons. Results suggest that arthropods on plants responded largely indirectly to cover crops through host plant quality. Results are interpreted in light of overall costs and benefits of cover cropping.


Assuntos
Agricultura/métodos , Artrópodes , Produtos Agrícolas , Cucurbita/crescimento & desenvolvimento , Cadeia Alimentar , Animais , Controle de Insetos , Maryland , Estações do Ano
4.
Insects ; 8(1)2017 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-28282931

RESUMO

We conducted a bee survey in neonicotinoid-treated commercial potato fields using bowl and vane traps in the 2016 growing season. Traps were placed outside the fields, at the field edges, and 10 and 30 m into the fields. We collected 756 bees representing 58 species, with Lasioglossum spp. comprising 73% of all captured bees. We found seven Bombus spp., of which B. impatiens was the only known visitor of potato flowers in our region. The majority of the bees (68%) were collected at the field edges and in the field margins. Blue vane traps caught almost four-times as many bees and collected 30% more species compared to bowl traps. Bee communities did not differ across trap locations but they were different among trap types. We tested B. impatiens visitation to neonicotinoid treated and untreated potato flowers in field enclosures. The amount of time bees spent at flowers and the duration of visits were not significantly different between the two treatments. Our results demonstrate that a diverse assemblage of bees is associated with an agroecosystem dominated by potatoes despite the apparent lack of pollinator resources provided by the crop. We found no difference in B. impatiens foraging behavior on neonicotinoid-treated compared to untreated plants.

5.
Annu Int Conf IEEE Eng Med Biol Soc ; 2016: 4585-4588, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28269296

RESUMO

Stroke is one of the leading causes of long-term disability. Approximately two thirds of stroke survivors require long-term rehabilitation, which suggests the importance of understanding movement quality in real-world settings. To address this need, we have developed an approach that quantifies physical activity and also evaluates performance quality. Accelerometer and gyroscope sensor data are used to measure upper extremity movements and to develop a mathematical framework to relate objective sensor data to clinical performance metrics. In this article we employ two approaches to extract clinically meaningful quality measures from individuals post-stroke; we then compare the resulting predictive ability of the two approaches. Our findings indicate that Bootstrap Aggregating forest approaches may be superior to the computationally simpler decision trees for unstable data sets including those derived from individuals post-stroke.


Assuntos
Algoritmos , Árvores de Decisões , Movimento (Física) , Acidente Vascular Cerebral/fisiopatologia , Extremidade Superior/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Fenômenos Biomecânicos , Demografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Movimento , Reabilitação do Acidente Vascular Cerebral
6.
Prenat Diagn ; 35(10): 968-71, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26245889

RESUMO

Noninvasive prenatal testing (NIPT) using cell-free DNA is being offered to an increasing number of women. Comprehensive pre-test counseling is complicated by emerging information about the benefits and limitations of testing, as well as the potential to detect incidental findings. Genetic counselors are trained to facilitate informed decision-making; however, not all centers have access to these professionals. To aid in the informed consent process, we have summarized key points to be included in discussions with patients who are considering NIPT.


Assuntos
Aconselhamento Genético/métodos , Testes para Triagem do Soro Materno , Aconselhamento , Feminino , Humanos , Gravidez
7.
Environ Entomol ; 44(3): 557-61, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26313960

RESUMO

Row spacing in agricultural systems can influence crop yield as well as pest and predator abundances. Soybean (Glycine max L. Merrill) growers in Maryland typically plant in narrow (∼19 cm), medium (∼38 cm), or wide (∼76 cm)-spaced rows, and there is a general lack of information on how these row-spacing schemes influence arthropod abundance and soybean yields. A study was conducted during two growing seasons to determine the effect of soybean row spacing and planting date (early and late) on soybean arthropods and yield. Despite a great deal of variation in arthropod responses to row spacing, and interactions between row spacing and study year, leaf-feeding herbivores were generally more abundant in narrow-spaced soybeans. All arthropod functional groups were more abundant, and yield was greater in early-planted soybeans relative to late-planted soybeans. Potential causes and implications of these finding are discussed.


Assuntos
Artrópodes , Produção Agrícola , Glycine max , Animais , Herbivoria , Maryland , Folhas de Planta , Estações do Ano
8.
Prenat Diagn ; 34(9): 850-7, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24711206

RESUMO

BACKGROUND: Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation. PURPOSE: We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process. METHODS: We distributed an anonymous, online survey to National Society of Genetic Counselors (NSGC) members in October 2012. RESULTS: There were 181 respondents who indicated they incorporated NIPT into their practice with the majority (94.1%) offering it to patients with high risk pregnancies. Of the respondents, 45.1% indicated that there should be a separate informed consent form for NIPT. Respondents indicated that a discussion about NIPT with a patient should highlight that it is a screening test, the detection rate is superior to that of maternal serum screening, it screens for specific conditions, and a positive NIPT result should be confirmed with a diagnostic test. CONCLUSION: Following data collection, the American Congress of Obstetricians and Gynecologists, the American College of Medical Genetics, and NSGC released practice guidelines surrounding NIPT. Our results demonstrate that most genetic counselors have been offering NIPT consistent with these guidelines.


Assuntos
Aconselhamento Genético/métodos , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Feminino , Aconselhamento Genético/estatística & dados numéricos , Pesquisas sobre Atenção à Saúde , Humanos , Consentimento Livre e Esclarecido , Massachusetts , Testes para Triagem do Soro Materno , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos
9.
Oecologia ; 173(2): 473-82, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23456243

RESUMO

Perennial plants interact with herbivores and pollinators across multiple growing seasons, and thus may respond to herbivores and pollinators both within and across years. Joint effects of herbivores and pollinators influence plant traits, but while some of the potential interactions among herbivory, pollination, plant size, and plant reproductive traits have been well studied, others are poorly understood. This is particularly true for perennial plants where effects of herbivores and pollinators may manifest across years. Here, we describe two experiments addressing the reciprocal interactions of plant traits with herbivore damage and pollination across 2 years using the perennial plant Chamerion angustifolium. We measured (1) plant responses to manipulation of damage and pollination in the year of treatment and the subsequent season, (2) damage and pollination responses to manipulation of plant size and flowering traits in the year of treatment, and (3) plant-mediated indirect interactions between herbivores and pollinators. We found that plant traits had little effect on damage and pollination, but damage and pollination affected plant traits in both the treatment year and the subsequent year. We found evidence of indirect effects between leaf herbivores and pollinators in both directions; indirect effects of pollinators on leaf herbivores have not been previously demonstrated. Our results indicate that pollen receipt results in shorter plants with fewer stems but does not change flower number, while leaf herbivory results in taller plants with fewer flowers. Together, herbivory and pollination may contribute to intermediate plant height and plants with fewer stems and flowers in our system.


Assuntos
Herbivoria , Insetos/fisiologia , Onagraceae/anatomia & histologia , Onagraceae/fisiologia , Polinização , Animais , Colorado , Flores/anatomia & histologia , Flores/crescimento & desenvolvimento , Flores/fisiologia , Onagraceae/crescimento & desenvolvimento , Reprodução , Estações do Ano
10.
Med Educ Online ; 152010 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-20174615

RESUMO

BACKGROUND: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI) associated with genetic testing and counseling. METHODS: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. RESULTS: Results of a 'real world' effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p<0.001; N varies between 163 and 596 for each course). CONCLUSIONS: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.


Assuntos
Instrução por Computador/métodos , Currículo , Educação Médica/métodos , Testes Genéticos , Genética Médica/educação , Internet , Humanos , Avaliação de Programas e Projetos de Saúde , Estudantes de Medicina , Avaliação da Tecnologia Biomédica , Estados Unidos
11.
J Athl Train ; 43(4): 342-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18668180

RESUMO

CONTEXT: Functional ankle instability (FAI) affects a large part of the population. Inconsistent findings have been reported regarding the existence of functional performance deficits in individuals with FAI. OBJECTIVE: To examine functional performance in participants with FAI compared with participants in a control group during 2 hopping tests. DESIGN: Case-control study. SETTINGS: Athletic training research laboratory. PATIENTS OR OTHER PARTICIPANTS: There were 40 college-aged individuals who participated in our study: 20 with FAI and 20 without FAI. We defined FAI as history of an ankle sprain and residual episodes of "giving way." INTERVENTION(S): Participants completed 2 functional performance tests (FPTs): the single-limb hopping and the single-limb hurdle tests. MAIN OUTCOME MEASURE(S): Time to complete each test was recorded. Following each FPT, participants were asked if their ankles felt unstable during the test. RESULTS: We found no difference between participants in the FAI and control groups for the hopping or hurdle tests (P > .05). When asked if their ankles felt unstable during the FPTs, approximately half of the participants in the FAI group and none of the participants in the control group reported a feeling of instability. Subsequently, a secondary analysis of variance was calculated with participants grouped into 3 categories: control participants, FAI participants reporting instability symptoms during FPT (FAI-S), and FAI participants not reporting instability symptoms during FPT (FAI-NS). Results revealed a difference among the 3 groups for the single-limb hopping test (P < .01). Post hoc analysis revealed a difference between the FAI-S participants and both the control and the FAI-NS participants. No difference was identified for the single-limb hurdle test (P = .41). CONCLUSIONS: The FAI-S participants had performance deficits during the single-limb hopping test. Therefore, clinicians could use this simple hopping test as an additional method to determine the presence of FAI.


Assuntos
Traumatismos do Tornozelo/fisiopatologia , Instabilidade Articular/fisiopatologia , Adulto , Traumatismos do Tornozelo/diagnóstico , Traumatismos do Tornozelo/prevenção & controle , Desempenho Atlético , Estudos de Casos e Controles , Teste de Esforço , Feminino , Humanos , Instabilidade Articular/diagnóstico , Instabilidade Articular/prevenção & controle , Masculino , Atividade Motora , Aptidão Física
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