Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 4 de 4
Filter
Add more filters










Database
Language
Publication year range
1.
Am J Epidemiol ; 192(1): 11-24, 2023 01 06.
Article in English | MEDLINE | ID: mdl-36205043

ABSTRACT

The All of Us Research Program, a health and genetics epidemiologic data collection program, has been substantially affected by the coronavirus disease 2019 (COVID-19) pandemic. Although the program is highly digital in nature, certain aspects of the data collection require in-person interaction between staff and participants. Before the pandemic, the program was enrolling approximately 12,500 participants per month at more than 400 clinical sites. In March 2020, because of the pandemic, all in-person activity at program sites and by engagement partners was paused to develop processes and procedures for in-person activities that incorporated strict safety protocols. In addition, the program adopted new data collection methodologies to reduce the need for in-person activities. Through February 2022, a total of 224 clinical sites had reactivated in-person activity, and all enrollment and engagement partners have adopted new data collection methods that can be used remotely. As the COVID-19 pandemic persists, the program continues to require safety procedures for in-person activity and continues to generate and pilot methodologies that reduce risk and make it easier for participants to provide information.


Subject(s)
COVID-19 , Population Health , Humans , COVID-19/epidemiology , Pandemics/prevention & control , Data Collection
2.
Prev Chronic Dis ; 2(2): A19, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15888230

ABSTRACT

INTRODUCTION: Family history of diabetes has been recognized as an important risk factor of the disease. Family medical history represents valuable genomic information because it characterizes the combined interactions between environmental, behavioral, and genetic factors. This study examined the strength and effect of having a family history of diabetes on the prevalence of self-reported, previously diagnosed diabetes among adult participants of the National Health and Nutrition Examination Survey 199-2002. METHODS: The study population included data from 10,283 participants aged 20 years and older. Gender, age, race/ethnicity, poverty income ratio, education level, body mass index, and family history of diabetes were examined in relation to diabetes status. Diabetes prevalence estimates and odds ratios of diabetes were calculated based on family history and other factors. RESULTS: The prevalence of diabetes among individuals who have a first-degree relative with diabetes (14.3%) was significantly higher than that of individuals without a family history (3.2%), corresponding to a crude odds ratio of five. Both prevalence and odds ratio estimates significantly increased with the number of relatives affected with diabetes. Family history was also associated with several demographic and risk factors. CONCLUSION: Family history of diabetes was shown to be a significant predictor of diabetes prevalence in the adult U.S. population. We advocate the inclusion of family history assessment in public health prevention and screening programs as an inexpensive and valuable source of genomic information and measure of diabetes risk.


Subject(s)
Diabetes Mellitus/epidemiology , Health Surveys , Nutrition Surveys , Adult , Black or African American/statistics & numerical data , Diabetes Mellitus/ethnology , Diabetes Mellitus/genetics , Female , Hispanic or Latino/statistics & numerical data , Humans , Male , Middle Aged , Multivariate Analysis , Odds Ratio , Parents , Prevalence , Risk Factors , United States , White People/statistics & numerical data
3.
J AAPOS ; 7(5): 354-7, 2003 Oct.
Article in English | MEDLINE | ID: mdl-14566319

ABSTRACT

OBJECTIVE: To examine the FOXC2 gene in a family with hereditary distichiasis. BACKGROUND: Distichiasis, ie, a second row of eyelashes arising from the meibomian glands of the eyelids, can be inherited either alone (Online Mendelian Inheritance in Man [OMIM] no. 126300) or, more commonly, as part of the lymphedema-distichiasis (LD) syndrome (OMIM no. 153400). More than 45 families with mutations in the FOXC2 gene and LD have been described. Both lymphedema and distichiasis are highly penetrant. Distichiasis without lymphedema is not commonly seen. METHODS: We examined three generations of a family (N = nine members) with hereditary distichiasis but without lymphedema or other features of LD syndrome. The FOXC2 gene was polymerase chain reaction--amplified from genomic DNA from all family members and examined for mutations. RESULTS: Clinical examination showed distichiasis of all four lids in two affected family members across two generations. There were no other consistent ophthalmologic abnormalities in the family. A cytosine-to-adenine transversion was identified in DNA from affected study participants at nucleotide position 1076, which would be predicted to cause truncation of the protein at codon 359. This change was not observed in any of the nine unaffected family members participating. CONCLUSIONS: This finding suggests that hereditary distichiasis and LD may not be separate genetic disorders but different phenotypic expressions of the same underlying disorder. Ophthalmologists should be aware that LD may present as distichiasis alone and counsel and refer their patients appropriately.


Subject(s)
DNA-Binding Proteins/genetics , Eye Abnormalities/genetics , Eyelashes/abnormalities , Mutation , Transcription Factors/genetics , Adenine , Adolescent , Adult , Base Sequence/genetics , Codon/genetics , Cytosine , DNA Mutational Analysis , Eye Abnormalities/pathology , Eyelashes/pathology , Female , Forkhead Transcription Factors , Humans , Male , Pedigree
4.
Hum Mol Genet ; 12(10): 1179-85, 2003 May 15.
Article in English | MEDLINE | ID: mdl-12719382

ABSTRACT

Lymphedema-distichiasis (LD) (OMIM 153400) is a rare autosomal-dominant condition characterized by pubertal onset of lower limb lymphedema and an aberrant second row of eyelashes arising from the meibomian glands. In some patients cardiac, skeletal and other defects coexist. We previously identified inactivating, nonsense and frameshift mutations in the forkhead transcription factor FOXC2 in affected members of LD families. To further delineate the relationship of FOXC2 deficiency to the clinical (and lymphangiodysplastic) phenotype in this syndrome, we performed dynamic lymphatic imaging and immunohistochemical examination of lymphatic tissues in mice heterozygous (+/-) for a targeted disruption of Foxc2. Adult heterozygote mice characteristically exhibited a generalized lymphatic vessel and lymph node hyper plasia and rarely exhibited hindlimb swelling. Retrograde lymph flow through apparently incompetent interlymphangion valves into the mesenteric nodes, intestinal wall and liver was also observed. In addition, Foxc2 +/- mice uniformly displayed distichiasis. We conclude that Foxc2 haploinsufficient mice mimic closely the distinctive lymphatic and ocular phenotype of LD patients. Furthermore, the craniofacial, cardiovascular and skeletal abnormalities sometimes associated with LD have previously been shown to be fully penetrant in homozygous Foxc2 null mice. This Foxc2 mutant mouse thus provides an ideal model for exploring molecular mechanisms and physiologic events in mesenchymal differentiation associated with lymphatic growth and development and the clinical abnormalities seen in human LD syndrome.


Subject(s)
DNA-Binding Proteins/genetics , Disease Models, Animal , Eyelashes/abnormalities , Lymphedema/genetics , Transcription Factors/genetics , Animals , DNA-Binding Proteins/metabolism , Forkhead Transcription Factors , Genes, Dominant , Heterozygote , Humans , Lymphatic Abnormalities/genetics , Lymphatic Abnormalities/pathology , Lymphedema/metabolism , Mice , Transcription Factors/metabolism
SELECTION OF CITATIONS
SEARCH DETAIL
...