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Biomedical subjects

S Barrett

Publications and source records attributed to S Barrett.

At least 91 records · Page 5Linked to original sources
PubMedDate not supplied

Increased duodenal DMT-1 expression and unchanged HFE mRNA levels in HFE-associated hereditary hemochromatosis and iron deficiency.

HFE-associated hereditary hemochromatosis is characterized by imbalances of iron homeostasis and alterations in intestinal iron absorption. The identification of the HFE gene and the apical iron transporter divalent metal transporter-1, DMT-1, provide a direct method to address the mechanisms of iron overload in this disease. The aim of this study was to evaluate the regulation of duodenal HFE and DMT-1 gene expression in HFE-associated hereditary hemochromatosis. Small bowel biopsies and serum iron indices were obtained from a total of 33 patients. The study population comprised 13 patients with hereditary hemochromatosis (C282Y homozygous), 10 patients with iron deficiency anemia, and 10 apparently healthy controls, all of whom were genotyped for the two common mutations in the HFE gene (C282Y and H63D). Total RNA was isolated from tissue and amplified via RT-PCR for HFE, DMT-1, and the internal control GAPDH. DMT-1 protein expression was additionally assessed by immunohistochemistry. Levels of HFE mRNA did not differ significantly between patient groups (P = 0.09), specifically between C282Y homozygotes and iron deficiency anemic patients, when compared to controls (P = 0.09, P = 0.9, respectively). In contrast, DMT-1 mRNA levels were at least twofold greater in patients with hereditary hemochromatosis and iron deficiency anemia when compared to controls (P = 0.02, P = 0.01, respectively). Heightened DMT-1 protein expression correlated with mRNA levels in all patients. Loss of HFE function in hereditary hemochromatosis is not derived from inhibition of its gene expression. DMT-1 expression in C282Y homozygote subjects is consistent with the hypothesis of a "paradoxical" duodenal iron deficiency in hereditary hemochromatosis. The observed twofold upregulation of the DMT-1 is consistent with the slow but steady increase in body iron stores observed in those presenting with clinical features of hereditary hemochromatosis.

Cation Transport Proteins↗
PubMedDate not supplied

The celtic coincidence--the frequency and clinical characterisation of hereditary haemochromatosis in patients with coeliac disease.

BACKGROUND: Hereditary Haemochromatosis (HH) and Coeliac disease (CD) are common disorders in Northern European populations, particularly the Irish population. AIMS: To investigate whether there was increased frequency of the two common HFE gene mutations, C282Y and H63D, associated with HH amongst a cohort of CD patients, and to determine the penetrance of the HH associated genotypes in this cohort. METHODS: HFE genotypes of a cohort of CD patients were determined using standard PCR techniques. HFE allele frequencies were compared to those of a previously reported, ethnically similar, cohort of 800 neonates, using Fishers exact test. Patients with HH-associated genotypes were subsequently evaluated. RESULTS: The C282Y and H63D allele frequencies, 24/222 (11%) and 28/222 (13%) respectively, in the CD patients were similar to those of the neonatal group, 171/1600 (11%) and 242/1600 (15%). Eight patients had HH-associated genotypes, of which two demonstrated biochemical evidence of iron overload. CONCLUSION: The HFE mutations associated with Hereditary Haemochromatosis are not more common in Irish CD patients.

Celiac Disease↗
PubMedDate not supplied

Severity of angiographically proven coronary artery disease predicts smoking cessation.

We investigated the relationship between the extent of coronary artery disease (CAD) and the likelihood of cigarette smoking cessation in a population of 84 smokers between 21 and 75 years of age undergoing elective or urgent coronary angiography at the University of Massachusetts Medical Center. The smokers were enrolled in a pilot study investigating the relationship of hospitalization and coronary arteriography for coronary artery disease to subsequent smoking cessation and were scored at baseline as having none, one-, two-, or three-vessel disease. Smoking status at a mean follow-up time of 11 months was obtained by telephone interview, at which point 50% reported not smoking. Logistic regression showed a significant relationship between smoking cessation and two factors: the anatomic extent of CAD and the experience of having had coronary artery bypass surgery or percutaneous transluminal coronary angioplasty following the initial catheterization. We discuss the relative roles of patient knowledge and motivation and physician intervention, and their implications for smoking cessation interventions.

Adult↗
PubMedDate not supplied

Commercial hair analysis. Science or scam?

Hair samples from two healthy teenagers were sent under assumed names to 13 commercial laboratories performing multimineral hair analysis. The reported levels of most minerals varied considerably between identical samples sent to the same laboratory and from laboratory to laboratory. The laboratories also disagreed about what was "normal" or "usual" for many of the minerals. Most reports contained computerized interpretations that were voluminous, bizarre, and potentially frightening to patients. Six laboratories recommended food supplements, but the types and amounts varied widely from report to report and from laboratory to laboratory. Literature from most of the laboratories suggested that their reports were useful in managing a wide variety of diseases and supposed nutrient imbalances. However, commercial use of hair analysis in this manner is unscientific, economically wasteful, and probably illegal.

Adolescent↗