Biomedical subjects

Kate Murphy

Publications and source records attributed to Kate Murphy.

4 recordsLinked to original sources

PubMed2026

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

Poly(ADP-ribose) polymerase inhibitors (PARPi) have revolutionized the management of BRCA1- and BRCA2-associated ovarian cancer (OC). In 2020, Ireland implemented a nationwide, oncology-led pathway for mainstreamed BRCA1/2 testing in patients with OC. This study evaluated the pathway and characterised the BRCA1/2 landscape in an Irish cohort of patients with OC. Samples collected between January 2020 and December 2023 were tested in two national molecular diagnostic laboratories. Single-molecule molecular inversion probe sequencing was used to detect single nucleotide variants, while multiplex ligation-dependent probe amplification assessed large genomic rearrangements. Variants were classified according to the American College of Medical Genetics and Genomics and Association for Clinical Genomic Science 2020 guidelines and CanVIG-UK specifications. In total, 535 patients were included, with a median age of 65.5 years (range, 27-89 years). Of these, 455/535 (85.0%) underwent germline BRCA1/2 (gBRCA) testing using peripheral blood, and 360/535 (67.2%) underwent tumour BRCA1/2 (tBRCA) testing, resulting in 292/535 (54.6%) patients having paired testing. Among gBRCA-tested patients, 10.3% (47/455) had a clinically actionable variant (CAV), while 2.1% (10/455) had a variant of uncertain significance. Of the 262 patients who underwent paired testing and had negative gBRCA results, 9.5% (25/262) had a somatic BRCA CAV. Recurrent germline BRCA CAVs were identified in regional clusters, including BRCA1 c.5266dup, BRCA1 c.1175_1214del, and BRCA2 c.4398_4402del. This nationwide real-world study demonstrates that mainstreamed germline and somatic BRCA1/2 testing is feasible in Ireland and reports the prevalence of BRCA CAVs in a cohort of patients with OC. Although the observed prevalence of germline BRCA CAVs was lower than anticipated, it is consistent with UK real-world data. The identification of recurrent, regionally clustered germline variants further enhances the characterisation of the Irish genomic landscape.

Journal Article↗

PubMed2006

Quality improvement to decrease specimen mislabeling in transfusion medicine.

CONTEXT: Proper specimen identification and labeling is a critical preanalytic step in pretransfusion compatibility testing. OBJECTIVE: To gather baseline data for specimen mislabeling, specifically targeting major mislabeling events, and to design and implement a plan of corrective action. DESIGN: All mislabeled specimens received by the transfusion service for a type and screen were recorded and classified into minor and major mislabeling categories. Major mislabeling events were tracked by origin of the specimen. Locations with a high proportion of major mislabeling were given timely feedback (within 1 week) of the events as they arose. SETTING: A university hospital. MAIN OUTCOME MEASURES: The incidence of major mislabeling. RESULTS: The incidence of mislabeling in the transfusion service was 0.5% (243/49 955) during 21 months of data collection. Of these mislabeling events, 47% were classified as major events (unlabeled, mismatched specimen/ requisition, ABO/Rh result on current specimen not matching historical record on file). The emergency department accounted for a high proportion of these major mislabeling events. After the intervention of providing weekly feedback to emergency department staff, their contribution to major mislabeling fell from 47% in 1 year (23/49) to 14% (4/29) in the subsequent 3 quarters. CONCLUSIONS: Collecting and trending data on mislabeled samples with timely feedback to patient care areas can change phlebotomy practice and reduce specimen mislabeling.

Blood Group Incompatibility↗

PubMed2002

Use of the Vettest 8008 and refractometry for determination of total protein, albumin, and globulin concentrations in feline effusions.

BACKGROUND: Pleural and peritoneal effusion is a common clinical finding in feline practice. Determination of fluid albumin (ALB) and globulin (GLOB) concentrations in addition to total protein (TP) concentration can be helpful in diagnosing or ruling out certain diseases in cats, especially feline infectious peritonitis (FIP). OBJECTIVE: The objective of this study was to compare effusion TP, ALB, and GLOB results obtained by a refractometer and a bench-top dry chemistry analyzer with those results obtained by a reference method. METHODS: Twenty-six pleural and 14 peritoneal effusion samples were analyzed from 40 cats with various diseases. TP and ALB concentrations were determined by a reference automated wet chemistry analyzer (Kone Specific, Kone Instruments, Espoo, Finland), a bench-top dry chemistry analyzer (Vettest 8008, IDEXX Laboratories Ltd, Chalfont St Peter, UK), and a refractometer (Atago SPR-T2, Atago Co, Tokyo, Japan). GLOB, albumin to globulin (A/G) ratio, and globulins as a percentage of total proteins (GLOB%) were calculated. Results were analyzed by paired t tests, difference plots, and Deming s regression analysis. RESULTS: Correlation coefficients (r) for TP with Vettest versus Kone and refractometer versus Kone methods were.97 and.94, respectively. GLOB and GLOB% values were significantly higher and A/G ratios were significantly lower with Vettest versus Kone methods. Correlation coefficients for ALB, GLOB, GLOB% and A/G ratio with Vettest versus Kone methods were.86,.93,.82, and.73, respectively. Although correlation with other methods was good, the refractometer underestimated TP concentrations in 3 samples. CONCLUSIONS: The refractometer is an acceptable method for determination of TP concentration in feline effusions. The Vettest 8008 also is an acceptable method for the determination of TP and ALB concentrations, however, calculated A/G ratios obtained with the Vettest are unacceptable.

Albumins↗

PubMedDate not supplied

Hematomyelia secondary to lumbar cerebrospinal fluid acquisition in a dog.

A 2-year-old male (Hungarian Vizsla) was evaluated for progressive discomfort of possible spinal origin. A minimum data base, thoracolumbar magnetic resonance (MR) imaging examination and electrophysiologic investigation were all normal. Cerebellomedullary and lumbar cerebrospinal fluid (CSF) was collected. The fluid was unremarkable except for elevated total protein. Shortly, thereafter, the dog had progressive neurologic deterioration referable to a caudal lumbar spinal cord lesion. In a repeated MR examination there was a well-circumscribed intramedullary lesion at the site where lumbar CSF was collected. The signal characteristics of the lesion were compatible with subacute hemorrhage, which was confirmed to be hematomyelia at the time of successful decompressive surgery.

Animals↗