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Biomedical subjects

B D Kelly

Publications and source records attributed to B D Kelly.

9 recordsLinked to original sources
PubMed2001

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.

To investigate the relationship between HPC2/ELAC2 and prostate cancer risk, we performed the following analyses: (1) a linkage study of six markers in and around the HPC2/ELAC2 gene at 17p11 in 159 pedigrees with hereditary prostate cancer (HPC); (2) a mutation-screening analysis of all coding exons of the gene in 93 probands with HPC; (3) family-based and population-based association study of common HPC2/ELAC2 missense variants in 159 probands with HPC, 249 patients with sporadic prostate cancer, and 222 unaffected male control subjects. No evidence for linkage was found in the total sample, nor in any subset of pedigrees based on characteristics that included age at onset, number of affected members, male-to-male disease transmission, or race. Furthermore, only the two previously reported missense changes (Ser217Leu and Ala541Thr) were identified by mutational analysis of all HPC2/ELAC exons in 93 probands with HPC. In association analyses, family-based tests did not reveal excess transmission of the Leu217 and/or Thr541 alleles to affected offspring, and population-based tests failed to reveal any statistically significant difference in the allele frequencies of the two polymorphisms between patients with prostate cancer and control subjects. The results of this study lead us to reject the three alternative hypotheses of (1) a highly penetrant, major prostate cancer-susceptibility gene at 17p11, (2) the allelic variants Leu217 or Thr541 of HPC2/ELAC2 as high-penetrance mutations, and (3) the variants Leu217 or Thr541 as low-penetrance, risk-modifying alleles. However, we did observe a trend of higher Leu217 homozygous carrier rates in patients than in control subjects. Considering the impact of genetic heterogeneity, phenocopies, and incomplete penetrance on the linkage and association studies of prostate cancer and on the power to detect linkage and association in our study sample, our results cannot rule out the possibility of a highly penetrant prostate cancer gene at this locus that only segregates in a small number of pedigrees. Nor can we rule out a prostate cancer-modifier gene that confers a lower-than-reported risk. Additional larger studies are needed to more fully evaluate the role of this gene in prostate cancer risk.

Age of Onset↗
PubMed2001

Hyponatremia during carbamazepine therapy in patients with intellectual disability.

Carbamazepine is an anticonvulsant and psychotropic medication commonly used in the treatment of people with intellectual disability (ID). The incidence of hyponatremia during treatment in this population is unclear. The present study aimed to determine the prevalence of hyponatremia during carbamazepine treatment in patients with ID, and to investigate the risk factors and clinical features of this condition. The prevalence of hyponatremia was retrospectively assessed in 53 people receiving carbamazepine (subject group) and 64 people not receiving carbamazepine (control group) who lived in a residential centre for people with ID. The relationship between serum sodium level, sex, age, daily carbamazepine dose and serum carbamazepine levels was examined. The prevalence of the clinical features of hyponatremia was assessed in this population using a checklist. The prevalence of hyponatremia was 41.5% and 9.4% in the subject and control groups, respectively. The mean serum sodium level in the subject group was significantly lower than that in the control group. Hyponatremia correlates significantly with a high daily carbamazepine dose and a high serum carbamazepine level. The checklist of clinical features was not useful in detecting hyponatremia clinically. Hyponatremia is a common occurrence in this population. In the light of the uncertain significance of mild, chronic hyponatremia, the value of routine monitoring of serum electrolytes has yet to be established.

Adolescent↗
PubMed2001

St John's wort for depression: what's the evidence?

There is a moderate amount of evidence to suggest that St John's wort is better than placebo in the short-term management of mild to moderate depressive illness, but there is increasing concern over reports of drug interactions. This article examines the scientific evidence and discusses relevant clinical issues.

Depression↗
PubMed2000

Delusion and desire: erotomania revisited.

OBJECTIVE: This paper examines the phenomonology in a case of erotomania and reviews classical and contemporary treatment options. METHOD: A case of primary erotomania is described. RESULTS: Treatment with hospitalization and risperidone produced rapid clinical improvement. CONCLUSION: Atypical antipsychotic drugs may be useful in the treatment of this interesting syndrome.

Antipsychotic Agents↗
PubMed1998

Nitrofurantoin-induced hepatotoxicity mediated by CD8+ T cells.

Nitrofurantoin is a synthetic nitrofuran commonly used for the treatment and prophylaxis of urinary tract infections. We describe the case of a 75-yr-old woman who was taking nitrofurantoin as prophylaxis against recurrent urinary tract infections, and who subsequently developed pulmonary and hepatic toxicity. We postulate that a breakdown product of the drug or the drug itself complexed to an endogenous peptide is presented by the class I HLA antigen on the hepatocyte cell membrane, inducing cytotoxic T cell activation and subsequently, hepatocyte death.

Aged↗