Lung carcinoids occur sporadically and rarely in association with multiple
endocrine neoplasia type 1 (MEN1). There are no well defined genetic
abnormalities known to occur in these tumors. We studied 11 sporadic lung
carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene
on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy
fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was
studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene
were inactivated. All four tumors showed the presence of a MEN1 gene
mutation and loss of the other allele. Observed mutations included a 1 bp
insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide
substitution affecting a donor splice site. Each mutation predicts
truncation or potentially complete loss of menin. The remaining seven
tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH.
The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a
complex germline MEN1 gene mutation. The data implicate the MEN1 gene in
the pathogenesis of sporadic lung carcinoids, representing the first
defined genetic alteration in these tumors.
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A model for concordance in a binary measure that does not rely on the assumption of an underlying latent liability dichotomized about a threshold has been demonstrated for twin pairs [Hannah et al, 1983]. It is extended here to pedigrees of arbitrary structure by making an assumption that is, for small incidence rates, almost equivalent to postulating that relative risks are multiplicative. The model is applied to the workshop data to determine the extent to which the known structure of the simulated models can be recovered. 相似文献
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BackgroundA growing number of states are turning to managed care arrangements to provide care to senior and disabled Medicaid beneficiaries. Despite their complex care needs, very little is known about the experience of these individuals in managed care.ObjectiveTo document experiences of a sample of aged and disabled Medicaid beneficiaries receiving long-term services and supports through managed care in Iowa and to assess whether these experiences changed over time.MethodsA purposive sample of 49 aged and disabled beneficiaries enrolled in one of seven HCBS waivers in Iowa was recruited in 2017. Telephone surveys were conducted in 2017 and 2019. A conventional content analysis was used to generate themes, which were then ranked by frequency proportions. Thematic frequencies were compared across waves among repeat respondents.ResultsContent analysis yielded seven themes in the following areas: system navigation; service approvals; provider relations; customer service; case management; perception of Iowa’s transition to managed care; and oversight. Concerns with service approvals was the most frequently reported theme and within this, issues related to changes in approved services or hours and quality of newly approved services comprised the largest number of references. Beneficiary concerns appeared to grow over time among respondents participating in both survey interview waves.ConclusionThe results of this study point to serious and persistent concerns related to access and quality of care under managed care for at least some HCBS waiver participants in Iowa, underscoring the need for a comprehensive evaluation of the program. 相似文献
ObjectiveTo measure the association between nursing home (NH) characteristics and Coronavirus Disease 2019 (COVID-19) prevalence among NH staff.DesignRetrospective cross-sectional study.Setting and ParticipantsCenters for Disease Control and Prevention COVID-19 database for US NHs between March and August 2020, linked to NH facility characteristics (LTCFocus database) and local COVID-19 prevalence (USA Facts).MethodsWe estimated the associations between NH characteristics, local infection rates, and other regional characteristics and COVID-19 cases among NH staff (nursing staff, clinical staff, aides, and other facility personnel) measured per 100 beds, controlling for the hospital referral regions in which NHs were located to account for local infection control practices and other unobserved characteristics.ResultsOf the 11,858 NHs in our sample, 78.6% reported at least 1 staff case of COVID-19. After accounting for local COVID-19 prevalence, NHs in the highest quartile of confirmed resident cases (413.5 to 920.0 cases per 1000 residents) reported 18.9 more staff cases per 100 beds compared with NHs that had no resident cases. Large NHs (150 or more beds) reported 2.6 fewer staff cases per 100 beds compared with small NHs (<50 beds) and for-profit NHs reported 0.8 fewer staff cases per 100 beds compared with nonprofit NHs. Higher occupancy and more direct-care hours per day were associated with more staff cases (0.4 more cases per 100 beds for a 10% increase in occupancy, and 0.7 more cases per 100 beds for an increase in direct-care staffing of 1 hour per resident day, respectively). Estimates associated with resident demographics, payer mix, or regional socioeconomic characteristics were not statistically significant.Conclusions and ImplicationsThese findings highlight the urgent need to support facilities with emergency resources such as back-up staff and protocols to reduce resident density within the facility, which may help stem outbreaks. 相似文献
We developed an assay that detects minus-strand RNA as a surrogate for actively replicating severe acute respiratory syndrome coronavirus 2. We detected minus-strand RNA in 41 persons with coronavirus disease up to 30 days after symptom onset. This assay might inform clinical decision-making about patient infectiousness. 相似文献
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