Biomedical subjects

Peter Broderick

Publications and source records attributed to Peter Broderick.

3 recordsLinked to original sources

PubMed2006

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

BACKGROUND: The observation that germline mutations in the oxidative DNA damage repair gene MUTYH cause colorectal cancer (CRC) provides strong evidence that dysregulation of the base excision repair (BER) pathway influences disease susceptibility. It is conceivable that germline sequence variation in other BER pathway genes such as NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 also contribute to CRC susceptibility. METHODS: To evaluate whether sequence variants of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes might act as CRC susceptibility alleles, we screened the coding sequence and intron-exon boundaries of these genes in 94 familial CRC cases in which involvement of known genes had been excluded. RESULTS: Three novel missense variants were identified NEIL2 C367A, TDG3 A196G and UNG2 C262T in patients, which were not observed in 188 healthy control DNAs. CONCLUSION: We detected novel germline alterations in NEIL2, TDG and UNG patients with CRC. The results suggest a limited role for NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 in development of CRC.

3' Untranslated Regions↗

PubMed2005

MiMiR: a comprehensive solution for storage, annotation and exchange of microarray data.

BACKGROUND: The generation of large amounts of microarray data presents challenges for data collection, annotation, exchange and analysis. Although there are now widely accepted formats, minimum standards for data content and ontologies for microarray data, only a few groups are using them together to build and populate large-scale databases. Structured environments for data management are crucial for making full use of these data. DESCRIPTION: The MiMiR database provides a comprehensive infrastructure for microarray data annotation, storage and exchange and is based on the MAGE format. MiMiR is MIAME-supportive, customised for use with data generated on the Affymetrix platform and includes a tool for data annotation using ontologies. Detailed information on the experiment, methods, reagents and signal intensity data can be captured in a systematic format. Reports screens permit the user to query the database, to view annotation on individual experiments and provide summary statistics. MiMiR has tools for automatic upload of the data from the microarray scanner and export to databases using MAGE-ML. CONCLUSION: MiMiR facilitates microarray data management, annotation and exchange, in line with international guidelines. The database is valuable for underpinning research activities and promotes a systematic approach to data handling. Copies of MiMiR are freely available to academic groups under licence.

Data Collection↗

PubMed2004

Hydromorphone neuroexcitation.

Continuous parenteral hydromorphone is used to treat pain in palliative care. Case reports have suggested that neuroexcitatory symptoms, such as agitation, myoclonic activity, and even seizures may occur during administration. However, little information exists on the incidence of these side effects or their relationship to the dose or duration of parenteral hydromorphone. A retrospective chart review was performed on 48 terminally ill hospice patients who received continuous parenteral hydromorphone for pain control. Chart reviews were conducted searching for three neuroexcitatory symptoms: agitation, myoclonus, and seizures; the incidence and relationship of these symptoms were statistically compared to the maximal dose and number of days on continuous parenteral hydromorphone. We found that agitation, myoclonus, and seizures were not associated with the patients gender, age, or diagnosis but found that agitation was associated (p < 0.01) in patients with known metastatic disease. Agitation, myoclonus, and seizures were independently associated with the maximal dose (p < 0.05, p < 0.001, and p < 0.05) and with the duration (p < 0.01, p < 0.05, and p < 0.01) of continuous parenteral hydromorphone A possible mechanism for these findings is hydromorphone-3-glucoronide, a metabolic product of hydromorphone, which has been implicated in neuroexcitatory symptoms in laboratory investigations.

Adult↗