Comparative analysis of rosaceous genomes and the reconstruction of a putative ancestral genome for the family

Abstract Background Comparative genome mapping studies in Rosaceae have been conducted until now by aligning genetic maps within the same genus, or closely related genera and using a limited number of common markers. The growing body of genomics resources and sequence data for both Prunus and Fragaria permits detailed comparisons between these genera and the recently released Malus × domestica genome sequence. Results We generated a comparative analysis using 806 molecular markers that are anchored genetically to the Prunus and/or Fragaria reference maps, and physically to the Malus genome sequence. Markers in common for Malus and Prunus, and Malus and Fragaria, respectively were 784 and 148. The correspondence between marker positions was high and conserved syntenic blocks were identified among the three genera in the Rosaceae. We reconstructed a proposed ancestral genome for the Rosaceae. Conclusions A genome containing nine chromosomes is the most likely candidate for the ancestral Rosaceae progenitor. The number of chromosomal translocations observed between the three genera investigated was low. However, the number of inversions identified among Malus and Prunus was much higher than any reported genome comparisons in plants, suggesting that small inversions have played an important role in the evolution of these two genera or of the Rosaceae.Apple genome research at FEM is supported by the research office of the Provincia autonoma di Trento. DJS and ELG acknowledge a grant from the East Malling Trust. Fragaria genomics at EMR is funded by the BBSRC. JMB is supported by a grant by Plant & Food Research's Excellence Programme. Apple genomics at Plant & Food Research is partially supported by the New Zealand Foundation for Research Science and Technology project C06X0812 "Exploiting Opportunities from Horticultural Genomics". Research conducted at IRTA was partly funded by the CONSOLIDER-INGENIO 2010 Program (CSD2007-00036) and project INIA-RTA2007-00063-00-00, both from the Spanish Ministry of Science and Innovation. RosCOS development at OSU/MSU was funded by the National Research Initiative Competitive Grant 2005-35300-15454 of USDA's National Institute of Food and Agriculture.Peer Reviewe

Physician Counseling on Colorectal Cancer Screening and Receipt of Screening among Latino Patients

BACKGROUND: Latinos have lower rates of colorectal cancer (CRC) screening and later stage diagnosis than Whites, which may be partially explained by physician communication factors. OBJECTIVE: We assessed associations between patient-reported physician counseling regarding CRC screening and receipt of CRC screening among Latino primary care patients. DESIGN: This was a cross-sectional telephone survey. PARTICIPANTS: The participants of this study were Latino primary care patients 50 years of age or older, with one or more visits during the preceding year. MAIN MEASURES: We developed patient-reported measures to assess whether physicians provided explanations of CRC risks and tests, elicited patients’ barriers to CRC screening, were responsive to patients’ concerns about screening, and encouraged patients to be screened. Outcomes were patient reports of receipt of endoscopy (sigmoidoscopy or colonoscopy) and fecal occult blood test (FOBT) within recommended guidelines. KEY RESULTS: Of 817 eligible patients contacted, 505 (62 %) completed the survey; mean age was 61 years (SD 8.4), 69 % were women, and 53 % had less than high school education. Forty-six percent reported obtaining endoscopy (with or without FOBT), 13 % reported FOBT only, and 41 % reported no CRC screening. In bivariate analyses, physician explanations, elicitation of barriers, responsiveness to concerns, and greater encouragement for screening were associated with receipt of endoscopy (p < 0.001), and explanations (p < 0.05) and encouragement (p < 0.001) were associated with FOBT. Adjusting for covariates, physician explanations (OR = 1.27; 95 % CI 1.03, 1.58) and greater physician encouragement (OR = 6.74; 95 % CI 3.57, 12.72) were associated with endoscopy; patients reporting quite a bit/a lot of physician encouragement had six times higher odds of obtaining the FOBT as those reporting none/a little encouragement (OR = 6.54; 95 % CI 2.76, 15.48). CONCLUSIONS: Among primarily lower-socioeconomic status Latino patients, the degree to which patients perceived that physicians encouraged CRC screening was more strongly associated with screening than with providing risk information, eliciting barriers, and responding to their concerns about screening. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11606-014-3126-0) contains supplementary material, which is available to authorized users

The patient-reported Clinicians' Cultural Sensitivity Survey: a field test among older Latino primary care patients.

BackgroundPatient-reported measures of clinicians' cultural sensitivity are important to assess comprehensively quality of care among ethnically diverse patients and may help address persistent health inequities.ObjectiveCreate a patient-reported, multidimensional survey of clinicians' cultural sensitivity to cultural factors affecting quality of care.DesignUsing a comprehensive conceptual framework, items were written and field-tested in a cross-sectional telephone survey. Multitrait scaling and factor analyses were used to develop measures.Setting and participantsLatino patients age ≥50 from primary care practices in California.Main variables studiedThirty-five items hypothesized to assess clinicians' sensitivity.Main outcomes measuresValidity and reliability of cultural sensitivity measures.ResultsTwenty-nine of 35 items measuring 14 constructs were retained. Eleven measures assessed sensitivity issues relevant to all participants: complementary and alternative medicine, mind-body connections, causal attributions, preventive care, family involvement, modesty, prescription medications, spirituality, physician discrimination due to education, physician discrimination due to race/ethnicity and staff discrimination due to race/ethnicity. Three measures were group specific: two to limited English proficient patients (sensitivity to language needs and discrimination due to language) and one to immigrants (sensitivity to immigrant status). Twelve multi-item scales demonstrated adequate reliability (alpha ≥0.68 except for Spanish discrimination due to education) and evidence of construct validity (item-scale correlations for all scales &gt;0.40 except for sensitivity to immigrant status). Two single-item measures demonstrated sufficient construct validity to retain for further development.Discussion and conclusionsThe Clinicians' Cultural Sensitivity Survey can be used to assess the quality of care of older Latino patients

The patient-reported Clinicians' Cultural Sensitivity Survey: a field test among older Latino primary care patients.

BackgroundPatient-reported measures of clinicians' cultural sensitivity are important to assess comprehensively quality of care among ethnically diverse patients and may help address persistent health inequities.ObjectiveCreate a patient-reported, multidimensional survey of clinicians' cultural sensitivity to cultural factors affecting quality of care.DesignUsing a comprehensive conceptual framework, items were written and field-tested in a cross-sectional telephone survey. Multitrait scaling and factor analyses were used to develop measures.Setting and participantsLatino patients age ≥50 from primary care practices in California.Main variables studiedThirty-five items hypothesized to assess clinicians' sensitivity.Main outcomes measuresValidity and reliability of cultural sensitivity measures.ResultsTwenty-nine of 35 items measuring 14 constructs were retained. Eleven measures assessed sensitivity issues relevant to all participants: complementary and alternative medicine, mind-body connections, causal attributions, preventive care, family involvement, modesty, prescription medications, spirituality, physician discrimination due to education, physician discrimination due to race/ethnicity and staff discrimination due to race/ethnicity. Three measures were group specific: two to limited English proficient patients (sensitivity to language needs and discrimination due to language) and one to immigrants (sensitivity to immigrant status). Twelve multi-item scales demonstrated adequate reliability (alpha ≥0.68 except for Spanish discrimination due to education) and evidence of construct validity (item-scale correlations for all scales &gt;0.40 except for sensitivity to immigrant status). Two single-item measures demonstrated sufficient construct validity to retain for further development.Discussion and conclusionsThe Clinicians' Cultural Sensitivity Survey can be used to assess the quality of care of older Latino patients

Physician counseling on colorectal cancer screening and receipt of screening among Latino patients.

BackgroundLatinos have lower rates of colorectal cancer (CRC) screening and later stage diagnosis than Whites, which may be partially explained by physician communication factors.ObjectiveWe assessed associations between patient-reported physician counseling regarding CRC screening and receipt of CRC screening among Latino primary care patients.DesignThis was a cross-sectional telephone survey.ParticipantsThe participants of this study were Latino primary care patients 50 years of age or older, with one or more visits during the preceding year.Main measuresWe developed patient-reported measures to assess whether physicians provided explanations of CRC risks and tests, elicited patients' barriers to CRC screening, were responsive to patients' concerns about screening, and encouraged patients to be screened. Outcomes were patient reports of receipt of endoscopy (sigmoidoscopy or colonoscopy) and fecal occult blood test (FOBT) within recommended guidelines.Key resultsOf 817 eligible patients contacted, 505 (62 %) completed the survey; mean age was 61 years (SD 8.4), 69 % were women, and 53 % had less than high school education. Forty-six percent reported obtaining endoscopy (with or without FOBT), 13 % reported FOBT only, and 41 % reported no CRC screening. In bivariate analyses, physician explanations, elicitation of barriers, responsiveness to concerns, and greater encouragement for screening were associated with receipt of endoscopy (p &lt; 0.001), and explanations (p &lt; 0.05) and encouragement (p &lt; 0.001) were associated with FOBT. Adjusting for covariates, physician explanations (OR = 1.27; 95 % CI 1.03, 1.58) and greater physician encouragement (OR = 6.74; 95 % CI 3.57, 12.72) were associated with endoscopy; patients reporting quite a bit/a lot of physician encouragement had six times higher odds of obtaining the FOBT as those reporting none/a little encouragement (OR = 6.54; 95 % CI 2.76, 15.48).ConclusionsAmong primarily lower-socioeconomic status Latino patients, the degree to which patients perceived that physicians encouraged CRC screening was more strongly associated with screening than with providing risk information, eliciting barriers, and responding to their concerns about screening

A design thinking approach to primary ovarian insufficiency.

Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder. The syndrome is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: 1) depression and anxiety related to the loss of reproductive hormones and infertility; 2) associated autoimmune adrenal insufficiency or hypothyroidism; and 3) reduced bone mineral density and increased risk of cardiovascular disease related to estrogen deficiency. Approximately 5% to 10% of women with primary ovarian insufficiency conceive and have a child. Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. In most cases of spontaneous primary ovarian insufficiency no environmental exposure or genetic mechanism can be identified. As a rare disease, the diagnosis of primary ovarian insufficiency presents special challenges. Connecting patients and community health providers in real time with investigators who have the requisite knowledge and expertise would help solve this dilemma