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We present five patients with coexistent von Willebrand disease (VWD) and Ehlers-Danlos syndrome and 21 with VWD and joint hypermobility. Females outnumbered males ten to three, Beighton scores were documented in 58% (15 of 26 patients), and several patients experienced moderately severe bleeding. We believe coexistent hypermobility disorder with VWD potentially affects bleeding severity and want to raise awareness among hematologists. Evaluation by geneticists is recommended because of the varying complexities observed across the disease spectrum, and the availability of new genetic tests should lead to more accurate diagnoses for the various hypermobility disorders.
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Hemorragia/complicaciones , Inestabilidad de la Articulación/complicaciones , Enfermedades de von Willebrand/complicaciones , Adolescente , Adulto , Preescolar , Femenino , Hemorragia/fisiopatología , Humanos , Inestabilidad de la Articulación/fisiopatología , Masculino , Factores Sexuales , Enfermedades de von Willebrand/fisiopatologíaRESUMEN
BACKGROUND: Siblings of people with intellectual and developmental disabilities (IDD) often assume key roles to support their brothers and sisters. For people with more significant support needs, siblings may undertake additional roles and responsibilities throughout their lives. The purpose of the present study was to identify and describe the roles of adult siblings who have a brother or sister with severe IDD. METHOD: Seventy-nine adult siblings from 19 to 72 years of age completed an online survey with open-ended questions about the roles they play in their relationships with their brother or sister. RESULTS: Thematic analysis resulted in identification of several roles including caregiver, friend (social partner), advocate, legal representative, sibling (teacher/role model), leisure planner and informal service coordinator. CONCLUSION: Siblings assume key roles in the lives of people with IDD and need support from family and professionals to perform these roles.
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Discapacidades del Desarrollo/psicología , Discapacidad Intelectual/psicología , Hermanos , Adulto , Anciano , Cuidadores , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
BACKGROUND: Inclusion in the community is essential to enhancing a person's quality of life. Although people with intellectual disabilities have a desire to be more involved in activities, they experience barriers that limit their inclusion. METHODS: The purpose of this study was to describe the community involvement of young adults with intellectual disability. I interviewed fourteen young adults with intellectual disability to explore their involvement in work, recreation and leisure activities. FINDINGS: Four themes emerged from the data: vocational endeavours, leisure pursuits, social inclusion and supports. The contexts of their experiences either facilitated or hindered their community involvement. CONCLUSIONS: The community involvement of young adults with intellectual disability varies depending on the opportunities and supports available to them. Their inclusion in the community may be enhanced by additional transportation options, continuing education in vocational and social skills, personalized guidance from group members and environments that are welcoming to people with disabilities.
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Participación de la Comunidad/psicología , Empleo/psicología , Discapacidad Intelectual/psicología , Distancia Psicológica , Apoyo Social , Adulto , Femenino , Humanos , Masculino , Investigación Cualitativa , Adulto JovenRESUMEN
PURPOSE: Screening multiple genes for inherited cancer predisposition expands opportunities for cancer prevention; however, reports of variants of uncertain significance (VUS) may limit clinical usefulness. We used an expert-driven approach, exploiting all available information, to evaluate multigene panels for inherited cancer predisposition in a clinical series that included multiple cancer types and complex family histories. METHODS: For 1,462 sequential patients referred for testing by BROCA or ColoSeq multigene panels, genomic DNA was sequenced and variants were interpreted by multiple experts using International Agency for Research on Cancer guidelines and incorporating evolutionary conservation, known and predicted variant consequences, and personal and family cancer history. Diagnostic yield was evaluated for various presenting conditions and family-history profiles. RESULTS: Of 1,462 patients, 12% carried damaging mutations in established cancer genes. Diagnostic yield varied by clinical presentation. Actionable results were identified for 13% of breast and colorectal cancer patients and for 4% of cancer-free subjects, based on their family histories of cancer. Incidental findings explaining cancer in neither the patient nor the family were present in 1.7% of subjects. Less than 1% of patients carried VUS in BRCA1 or BRCA2. For all genes combined, initial reports contained VUS for 10.5% of patients, which declined to 7.5% of patients after reclassification based on additional information. CONCLUSIONS: Individualized interpretation of gene panels is a complex medical activity. Interpretation by multiple experts in the context of personal and family histories maximizes actionable results and minimizes reports of VUS.Genet Med 18 10, 974-981.
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Neoplasias de la Mama/diagnóstico , Neoplasias Colorrectales/diagnóstico , Predisposición Genética a la Enfermedad , Proteínas de Neoplasias/genética , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Femenino , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Persona de Mediana Edad , Mutación , Factores de RiesgoRESUMEN
The importance of maternal care in commercial pig production is largely ignored. The sow has little possibility to interact with her piglets, and piglets are often subjected to early weaning or artificial rearing. This study aimed to investigate aspects of physiological and behavioural maternal provisioning that contribute to offspring outcomes. We hypothesised that better maternal care and nutritional provisioning would relate positively to piglet immunity, growth and behaviour. Nineteen sows and their litters were studied in free-farrowing pens. Oxytocin and tumour necrosis factor-α in colostrum/milk and salivary cortisol were sampled from sows throughout lactation. Sows were assessed for dominance rank, response to handling, maternal defensiveness, suckling initiation and termination, posture and sow-piglet contact. Piglets were weighed, measured for body mass index (BMI) and sampled for blood (Immunoglobulin G; at birth). After weaning, they experienced a human approach test (HAT) and novel object test. Correlations were explored between individual sow characteristics, individual piglet outcomes, and between sow characteristics and piglet outcomes averaged by litter. Significant correlations between sow and piglet factors were analysed at the litter level in mixed models with piglet outcomes as response variables and sow characteristics as predictor variables, while accounting for sow parity, litter size and batch. Litters grew faster when their sow had lower cortisol values (P = 0.03), while sows with lower cortisol levels had more successful suckling bouts and engaged in greater amounts of sow-piglet contact. Litters had a lower BMI at weaning when the sow had a higher milk fat percentage at d3. Litters of the most dominant sows took longer to approach the human in the HAT, while litters of sows with higher cortisol at d0 took longer to approach the novel object when assessed on correlations (r = 0.82, P < 0.001) but not when the model accounted for parity and litter size (P = 0.35). Only some of the measured nutritive and non-nutritive sow factors influenced litter performance and behaviour, with parity and litter size also playing a role. Given the continued increase in litter size, but also the interest in loose-housed lactation pens for sows, further research on sows' maternal investment and how it can be optimised is warranted.
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Hidrocortisona , Parto , Embarazo , Femenino , Humanos , Animales , Porcinos , Animales Recién Nacidos , Lactancia/fisiología , Destete , Tamaño de la CamadaRESUMEN
Direct support professionals (DSPs) and frontline supervisors (FLSs) play an invaluable role in delivering home and community-based services to people with intellectual and developmental disabilities (IDD). DSPs provide support with employment, community living, developing social connections, health and well-being, and many other areas. FLSs' primary responsibility is to provide direction and guidance to DSPs in their work; however, they also frequently provide direct support to people with IDD. This workforce has been in crisis with high turnover and vacancy which threaten the inclusion of individuals with disabilities in their communities. The COVID-19 pandemic exacerbated an already fraught situation.
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This article presents outcomes from a Workshop entitled "Bioarchaeology: Taking Stock and Moving Forward," which was held at Arizona State University (ASU) on March 6-8, 2020. Funded by the National Science Foundation (NSF), the School of Human Evolution and Social Change (ASU), and the Center for Bioarchaeological Research (CBR, ASU), the Workshop's overall goal was to explore reasons why research proposals submitted by bioarchaeologists, both graduate students and established scholars, fared disproportionately poorly within recent NSF Anthropology Program competitions and to offer advice for increasing success. Therefore, this Workshop comprised 43 international scholars and four advanced graduate students with a history of successful grant acquisition, primarily from the United States. Ultimately, we focused on two related aims: (1) best practices for improving research designs and training and (2) evaluating topics of contemporary significance that reverberate through history and beyond as promising trajectories for bioarchaeological research. Among the former were contextual grounding, research question/hypothesis generation, statistical procedures appropriate for small samples and mixed qualitative/quantitative data, the salience of Bayesian methods, and training program content. Topical foci included ethics, social inequality, identity (including intersectionality), climate change, migration, violence, epidemic disease, adaptability/plasticity, the osteological paradox, and the developmental origins of health and disease. Given the profound changes required globally to address decolonization in the 21st century, this concern also entered many formal and informal discussions.
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Arqueología , Instituciones Académicas , Humanos , Estados Unidos , Teorema de Bayes , Universidades , ArizonaRESUMEN
Many siblings anticipate fulfilling caregiving roles for their brothers and sisters with intellectual and developmental disabilities (IDD). Given these roles and the importance of supported decision making, it is crucial to understand how individuals with IDD and their siblings make decisions. Using dyadic interviews, we examined the perspectives of nine sibling dyads ( N = 18) about decision making in relation to self-determination, independent living, and employment. The ages of participants ranged from 19 to 57. Data were analyzed using constant comparative analysis to identify themes. Decision making was characterized by: parents and siblings primarily identifying courses of action; the probability of respective consequences based on the person-environment fit; and the role of the sibling in making the final decision. Characteristics related to the individual with IDD, the family, the sibling, and the environment impacted decision making. Individuals with IDD were more likely to make their own decisions about leisure activities; however, siblings were more likely to make formal decisions for their brothers and sisters.
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Cuidadores/psicología , Toma de Decisiones , Discapacidades del Desarrollo/psicología , Discapacidad Intelectual/psicología , Adulto , Empleo , Femenino , Humanos , Vida Independiente , Masculino , Persona de Mediana Edad , Autonomía Personal , Relaciones entre Hermanos , Hermanos/psicología , Adulto JovenRESUMEN
Giving birth is a critical time for many species and is often the most painful event ever experienced by females. In domestic species, like the pig, pain associated with parturition represents a potential welfare concern, and the consequences of pain can cause economic losses (e.g., by indirectly contributing to piglet mortality as pain could slow post-farrowing recovery, reduce food and water intake, reducing milk let-down). This study investigated pain assessment and its management in primiparous (gilts) and multiparous (sows) breeding pigs, including the provision of a non-steroidal anti-inflammatory drug (NSAID) post-parturition. Individuals were randomly allocated to receive the NSAID ketoprofen (3 mg/kg bodyweight) (n = 11 gilts, 16 sows) or the equivalent volume of saline (n = 13 gilts, 16 sows) by intramuscular injection 1.5 h after the birth of the last piglet. Data collected included putative behavioral indicators of pain (back leg forward, tremble, back arch), salivary cortisol concentrations pre-farrowing and up to 7 days post-injection. In addition, post-partum biomarkers of inflammation, including the acute phase protein C-reactive protein (CRP) and 3 porcine cytokines [interleukin-1 ß (IL1 ß), interleukin-6 (IL6), and tumor necrosis factor α (TNF α)] were measured in plasma collected 6 h following the injection. Behaviors were analyzed using generalized linear mixed models, and physiological variables with linear mixed models. No difference in putative pain behaviors, salivary cortisol, CRP, or cytokines were found between individuals treated with ketoprofen or those administered the saline control. However, there were some differences between gilts and sows, as sows exhibited more putative pain behavior than gilts, had higher salivary cortisol on the day of farrowing and had higher plasma TNF α. Conversely, gilts had higher salivary cortisol than sows on day 3 post-farrowing and had higher CRP. This indicates that, like human females, multiparous sows experience more pain from uterine activity following birth than primiparas. This study provides useful information for developing management practices relating to post-farrowing care for breeding pigs.
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Dairy animals are subjected to a number of potential stressors throughout their lives, including daily interactions with humans. The quality of these interactions may have direct consequences for the animal undergoing the experience, but if such events occur during gestation it may also affect the developing fetus. This study examined the effects of differential handling during mid-gestation in 40 twin-bearing Saanen×Toggenburg primiparous goats. Between days 80 and 115 of gestation (gestation=150 days), goats were subjected to aversive (AVS, n=13), gentle (GEN, n=13) or minimal (M, n=14) handling protocols for 10 minute periods twice daily. The control (M) group did not receive handling treatments and all goats received normal husbandry procedures outside treatment periods. Salivary cortisol measured during the treatment period was higher in AVS goats (mean cortisol (sem) in pg/µl: AVS: 176.7 (18.2), GEN: 119.6 (11.1), M: 126.5 (13.7); P=0.007). Data collection was focussed on mother-offspring behaviors 2h post-partum, placental morphology and colostrum quality. AVS goats were the only treatment group to suffer fetal loss (16% loss vs 0% in GEN and M, P=0.05). Treatment also influenced placental morphology with a tendency for fewer cotyledons evident in placentae from the aversive treatment (AVS: 87.9 (7.8), GEN: 107.1 (7.9), M: 112.1 (9.3), P=0.093), and significantly fewer medium sized cotyledons (AVS: 67.6 (7.8), GEN: 89.3 (6.4), M: 84.3 (5.4), P=0.042). GEN goats displayed more grooming and nosing behaviors towards their young during the first 2h post-partum (grooming: GEN: 89.3% (7.1), AVS: 72.6% (7.7), M: 63.4% (9.0), P=0.045; nosing frequency: GEN: 58.8 (12.5), AVS: 28.6 (11.1), M: 34.7 (6.5), P=0.021). There was an overall trend for kids from mothers experiencing the AVS treatment to take longer to stand, reach the udder and suck compared to kids from GEN and M treatment groups. Treatment significantly affected latency to perform play behavior, with kids from AVS goats taking on average 25 min longer to play for the first time than kids from GEN and M treatment groups (P<0.001). The results show that handling during gestation affects placental morphology, fetal survival and post-partum maternal behaviors, and influences kid behavioral development. Such results have important animal welfare implications, demonstrating that negative handling of pregnant females results in poorer placental quality with potential for fetal loss. It also demonstrates the beneficial effects of positive handling on enhancement of maternal behaviors.
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Conducta Animal/fisiología , Manejo Psicológico , Conducta Materna/fisiología , Relaciones Madre-Hijo , Placenta/fisiología , Animales , Animales Recién Nacidos , Índice de Masa Corporal , Temperatura Corporal , Calostro/inmunología , Femenino , Edad Gestacional , Glucocorticoides/metabolismo , Cabras/fisiología , Hidrocortisona/metabolismo , Inmunoglobulina G/sangre , Tamaño de la Camada , Parto , Embarazo , Saliva/metabolismoRESUMEN
Cytokines are cell signalling proteins that mediate a number of different physiological responses. They are also biomarkers for inflammatory conditions and potential diagnostic references for diseases. Until recently, simultaneous quantification of cytokine profiles had not been possible. Now however, fluorescent microsphere immunoassays (FMIA) are able to measure multiple cytokines in a single sample. The following pro-inflammatory and anti-inflammatory cytokines were quantified in equine plasma and serum samples: interleukin (IL)-2, IL-4, IL-6, IL-10, interferon (IFN)-γ, tumor necrosis factor (TNF)-α. â¢The objective of this study was to quantify six equine cytokines simultaneously using the BioPlex(®) 200 system in equine EDTA-plasma and serum.â¢It demonstrates an increased number of detectable cytokines over published studies.â¢This technology has the advantage of reduced sample volume and assay time compared to traditional sandwich ELISAs.