87 research outputs found

    VHF-UHF passive filter synthesis based on acoustic resonator structures

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    This thesis presents a novel design method for approximating standard bandpass filter transfer functions using surface acoustic wave (SAW) technology. This method is based on standard circuit simulation and optimization tools to generate physical specifications for the fabrication of a SAW impedance element filter (IEF) network. The IEF topology is verified in the design of a narrowband bandpass filter composed of commercial quartz SAW resonators. The utility of the design method is further demonstrated for a wider bandwidth filter based on custom resonators fabricated on a lithium niobate substrate. An optimum fit was obtained between the standard filter target response and the corresponding SAW IEF response. Comparisons made between the two networks show that by exploiting the high Q characteristics of SAW devices in an IEF configuration, smaller footprints and tighter filter tolerances are obtained

    Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.

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    Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS. Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation. Uniparental disomy (UPD) analysis for chromosome 1 showed the presence of maternal UPD. Markers in the 1q21.3-q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic. These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient

    Validation of the Vaccination Confidence Scale: A Brief Measure to Identify Parents at Risk for Refusing Adolescent Vaccines

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    Objective To validate a brief measure of vaccination confidence using a large, nationally representative sample of parents. Methods We analyzed weighted data from 9018 parents who completed the 2010 National Immunization Survey–Teen, an annual, population-based telephone survey. Parents reported on the immunization history of a 13- to 17-year-old child in their households for vaccines including tetanus, diphtheria, and acellular pertussis (Tdap), meningococcal, and human papillomavirus vaccines. For each vaccine, separate logistic regression models assessed associations between parents\u27 mean scores on the 8-item Vaccination Confidence Scale and vaccine refusal, vaccine delay, and vaccination status. We repeated analyses for the scale\u27s 4-item short form. Results One quarter of parents (24%) reported refusal of any vaccine, with refusal of specific vaccines ranging from 21% for human papillomavirus to 2% for Tdap. Using the full 8-item scale, vaccination confidence was negatively associated with measures of vaccine refusal and positively associated with measures of vaccination status. For example, refusal of any vaccine was more common among parents whose scale scores were medium (odds ratio, 2.08; 95% confidence interval, 1.75–2.47) or low (odds ratio, 4.61; 95% confidence interval, 3.51–6.05) versus high. For the 4-item short form, scores were also consistently associated with vaccine refusal and vaccination status. Vaccination confidence was inconsistently associated with vaccine delay. Conclusions The Vaccination Confidence Scale shows promise as a tool for identifying parents at risk for refusing adolescent vaccines. The scale\u27s short form appears to offer comparable performance

    Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

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    OBJECTIVES: Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, concerns, and support needs. METHODS: Semi-structured interviews were conducted with 11 parents and 20 health professionals (fetal medicine and clinical genetics) with experience of rapid pES prior to implementation in the English National Health Service. Interviews were transcribed verbatim and analysed thematically. RESULTS: Parents and professionals were largely positive about pES, emphasising clinical and psychosocial benefits of a timely, definitive diagnosis in pregnancy. Concerns included parental anxiety related to the timing of pES results or uncertain findings, a need for guidelines for case selection and reporting, and ensuring sufficient capacity for counselling, phenotyping and variant interpretation. Professionals were concerned non-genetics professionals may not be equipped to counsel parents on the complexities of pES. CONCLUSION: These findings highlight important issues for clinical implementation of pES. Expert counselling is required to enable parents to make informed decisions during a stressful time. To achieve this, professionals need further education and training, and fetal medicine and genetics services must work closely together to ensure parental understanding and appropriate support

    HPV Vaccine Hesitancy: Findings From a Statewide Survey of Health Care Providers

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    Healthcare provider recommendations are critical for human papillomavirus (HPV) vaccine uptake. We sought to describe providers' HPV vaccine recommendation practices and explore their perceptions of parental hesitancy

    Vaccination Confidence and Parental Refusal/Delay of Early Childhood Vaccines

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    Objective: To support efforts to address parental hesitancy towards early childhood vaccination, we sought to validate the Vaccination Confidence Scale using data from a large, population-based sample of U.S. parents. Methods: We used weighted data from 9,354 parents who completed the 2011 National Immunization Survey. Parents reported on the immunization history of a 19- to 35-month-old child in their households. Healthcare providers then verified children’s vaccination status for vaccines including measles, mumps, and rubella (MMR), varicella, and seasonal flu. We used separate multivariable logistic regression models to assess associations between parents’ mean scores on the 8-item Vaccination Confidence Scale and vaccine refusal, vaccine delay, and vaccination status. Results: A substantial minority of parents reported a history of vaccine refusal (15%) or delay (27%). Vaccination confidence was negatively associated with refusal of any vaccine (odds ratio [OR] = 0.58, 95% confidence interval [CI], 0.54–0.63) as well as refusal of MMR, varicella, and flu vaccines specifically. Negative associations between vaccination confidence and measures of vaccine delay were more moderate, including delay of any vaccine (OR = 0.81, 95% CI, 0.76–0.86). Vaccination confidence was positively associated with having received vaccines, including MMR (OR = 1.53, 95% CI, 1.40–1.68), varicella (OR = 1.54, 95% CI, 1.42–1.66), and flu vaccines (OR = 1.32, 95% CI, 1.23–1.42). Conclusions: Vaccination confidence was consistently associated with early childhood vaccination behavior across multiple vaccine types. Our findings support expanding the application of the Vaccination Confidence Scale to measure vaccination beliefs among parents of young children

    The Vaccination Confidence Scale: A brief measure of parents’ vaccination beliefs

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    The success of national immunization programs depends on the public’s confidence in vaccines. We sought to develop a scale for measuring confidence about adolescent vaccination in diverse populations of parents

    Healthcare recommendations for Joubert syndrome

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    Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan

    Factors impacting employment for people with autism spectrum disorder: A scoping review

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    The aim of this study is to holistically synthesise the extent and range of literature relating to the employment of individuals with autism spectrum disorder. Database searches of Medline, CINAHL, PsychINFO, Scopus, ERIC, Web of Science and EMBASE were conducted. Studies describing adults with autism spectrum disorder employed in competitive, supported or sheltered employment were included. Content analysis was used to identify the strengths and abilities in the workplace of employees with autism spectrum disorder. Finally, meaningful concepts relating to employment interventions were extracted and linked to the International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder. The search identified 134 studies for inclusion with methodological quality ranging from limited to strong. Of these studies, only 36 evaluated employment interventions that were coded and linked to the International Classification of Functioning, Disability and Health, primarily focusing on modifying autism spectrum disorder characteristics for improved job performance, with little consideration of the impact of contextual factors on work participation. The International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder are a useful tool in holistically examining the employment literature for individuals with autism spectrum disorder. This review highlighted the key role that environmental factors play as barriers and facilitators in the employment of people with autism spectrum disorder and the critical need for interventions which target contextual factors if employment outcomes are to be improved
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