Publications
Department of Medicine faculty members published more than 3,600 peer-reviewed articles in 2024.
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BACKGROUND & AIMS
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are hereditary liver disorders; PFIC is characterized by severe progressive liver disease whereas BRIC patients have intermittent attacks of cholestasis without permanent liver damage. Mutations in ATP8B1 are present in PFIC type 1 and in a subset of BRIC patients. We hypothesized that a genetically distinct form of BRIC is associated with mutations in ABCB11. This gene encodes the bile salt export pump (BSEP) and is mutated in PFIC type 2.
METHODS
Patients from 20 families were included; all had a normal ATP8B1 sequence. Sequencing of all 27 coding exons including the splice junctions of ABCB11 revealed 8 distinct mutations in 11 patients from 8 different families: one homozygous missense mutation (E297G) previously described in PFIC2 patients, 6 novel missense mutations, and one putative splice site mutation.
RESULTS
In 12 families, no mutations in ATB8B1 or ABCB11 were detected. Pancreatitis is a known extrahepatic symptom in BRIC caused by ATP8B1 mutations, but was not present in BRIC patients with mutations in ABCB11. In contrast, cholelithiasis was observed in 7 of 11 BRIC patients with mutations in ABCB11, but has not been described in ATP8B1-affected BRIC patients.
CONCLUSIONS
Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, we propose that this disorder be named BRIC type 2.
View on PubMed2004
OBJECTIVE
To qualitatively assess Chinese American women's views of health and illness and the potential influences of culture and language on cancer screening behavior.
DESIGN
Data were generated by five focus groups, each consisting of 9-12 Chinese American women aged 50 and older. Participants responded to open-ended questions assessing their perceptions of health and illness, knowledge about cancer, beliefs about and barriers to cancer screening, and screening and healthcare experiences in the USA. All conversations were tape-recorded and analyzed in the context of PRECEDE framework concepts of predisposing, enabling, and reinforcing factors.
RESULTS
The 54 participants had a mean age of 65 years, with an average age of immigration to the USA at 51 and average length of residence in the USA of 15 years. Participants considered outdoor exercise in the morning for fresh air and a hot-cold balanced diet as important means to health. None mentioned the importance of regular medical checkups or cancer screening. When talking about cancer prevention, a sense of fatalism was evident, such as 'no control of life and death' and 'what will happen will happen'. Lack of English capability was a major enabling barrier to healthcare. In addition, these women reported the need for help with transportation, especially for those living in suburban areas where public transportation is not readily available. Physician recommendation was identified as the most important reinforcing factor for cancer screening.
CONCLUSION
Our results suggest traditional Chinese beliefs, such as those pertaining to fatalism, self-care, and the hot and cold balance, influence the perceptions of older Chinese women regarding health, illness, and use of preventive healthcare. Interventions to improve cancer screening in this population should be tailored to the specific predisposing, enabling, and reinforcing factors of this population, including cultural views, language barriers, doctor-patient communication, and access to healthcare.
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