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1.
Transfusion ; 61(11): 3066-3074, 2021 11.
Article in English | MEDLINE | ID: mdl-34661301

ABSTRACT

BACKGROUND: The massive transfusion protocol (MTP) is designed to quickly provide blood products at a fixed ratio for the exsanguinating patient. At our academic medical center, the frequency of MTP activation increased over 10-fold between 2008 and 2015, putting inordinate stress on our transfusion service. STUDY DESIGN AND METHODS: Gathering a large number of relevant stakeholders, we performed a multidisciplinary root cause analysis (RCA) in response to the acute clinical need to reform our MTP. RESULTS: Through the RCA, we identified four principal opportunities for improvement (OFI) associated with our MTP: education, stewardship, process improvement, and communication. Through the deployment of new approaches to each of these OFI, we reduced MTP activations, blood product waste, and transfusion service technologist stress. CONCLUSION: The MTP is amenable to improvement, and, although time intensive, the RCA process yields significant favorable effects: improving communication with colleagues, reducing stress within the transfusion service, and improving resource utilization. Activation of the MTP at our institution is now more aligned with its primary purpose: rapidly providing large quantities of blood products to exsanguinating patients.


Subject(s)
Blood Transfusion , Wounds and Injuries , Academic Medical Centers , Blood Transfusion/methods , Health Facilities , Humans , Retrospective Studies , Trauma Centers
2.
PLoS Genet ; 12(12): e1006483, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27977684

ABSTRACT

Bloom syndrome is a recessive human genetic disorder with features of genome instability, growth deficiency and predisposition to cancer. The only known causative gene is the BLM helicase that is a member of a protein complex along with topoisomerase III alpha, RMI1 and 2, which maintains replication fork stability and dissolves double Holliday junctions to prevent genome instability. Here we report the identification of a second gene, RMI2, that is deleted in affected siblings with Bloom-like features. Cells from homozygous individuals exhibit elevated rates of sister chromatid exchange, anaphase DNA bridges and micronuclei. Similar genome and chromosome instability phenotypes are observed in independently derived RMI2 knockout cells. In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome.


Subject(s)
Bloom Syndrome/genetics , DNA-Binding Proteins/genetics , Fanconi Anemia Complementation Group D2 Protein/genetics , Neoplasms/genetics , Nuclear Proteins/genetics , Bloom Syndrome/complications , Bloom Syndrome/pathology , Chromosomal Instability/genetics , DNA Helicases/genetics , DNA, Cruciform/genetics , Genetic Predisposition to Disease , Genomic Instability , Humans , Multiprotein Complexes/genetics , Neoplasms/complications , Neoplasms/pathology , Sister Chromatid Exchange/genetics
4.
Endocr Pract ; 18(4): 529-37, 2012.
Article in English | MEDLINE | ID: mdl-22440994

ABSTRACT

OBJECTIVE: To evaluate the safety and efficacy of replacing a paper-based protocol with a computer-guided glucose management system (CGMS) for the treatment of postoperative hyperglycemia in the cardiovascular intensive care unit (CVICU). METHODS: With use of a before-and-after analysis, adult patients (≥18 years) discharged from the CVICU and treated with the paper protocol were compared with patients discharged from the CVICU and treated with the CGMS. Of the 1,648 patients analyzed, 991 were in the CGMS group. Clinical end points were evaluated by using the Wilcoxon test. Unadjusted and adjusted hazard ratios (HRs) for each hypoglycemic end point were calculated from Cox models with use of the proportional hazards regression procedure, and clinical end points were adjusted for potential confounders. RESULTS: Patients treated with the paper protocol were 6 times as likely to experience clinical hypoglycemia (blood glucose ≤70 mg/dL) as patients treated with the CGMS (adjusted HR = 6.06; P<.0001) and more than 7 times as likely to experience severe hypoglycemia (blood glucose ≤40 mg/dL) (adjusted HR = 7.59; P=.01). Despite the increased risk of hypoglycemia, no significant difference in length of stay or mortality was observed between the groups. CONCLUSION: CGMS treatment of postoperative hyperglycemia in CVICU patients can successfully attain goal glucose levels with a significant reduction in hypoglycemia in comparison with a paper protocol. This association persists after controlling for covariates.


Subject(s)
Cardiovascular Diseases/surgery , Drug Therapy, Computer-Assisted , Hypoglycemia/epidemiology , Hypoglycemic Agents/adverse effects , Insulin Infusion Systems , Insulin/adverse effects , Postoperative Complications/epidemiology , Adult , Aged , Aged, 80 and over , Cardiovascular Diseases/mortality , Cardiovascular Diseases/nursing , Cohort Studies , Drug Therapy, Computer-Assisted/adverse effects , Florida/epidemiology , Humans , Hyperglycemia/blood , Hyperglycemia/drug therapy , Hypoglycemia/chemically induced , Hypoglycemia/physiopathology , Hypoglycemia/prevention & control , Hypoglycemic Agents/administration & dosage , Hypoglycemic Agents/therapeutic use , Insulin/administration & dosage , Insulin/therapeutic use , Insulin Infusion Systems/adverse effects , Intensive Care Units , Length of Stay , Middle Aged , Nursing Care/methods , Postoperative Complications/chemically induced , Postoperative Complications/drug therapy , Postoperative Complications/prevention & control , Retrospective Studies , Risk , Severity of Illness Index , Young Adult
5.
Hum Mutat ; 32(12): 1500-6, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21850686

ABSTRACT

Microarray analysis has provided significant advances in the diagnosis of conditions resulting from submicroscopic chromosome abnormalities. It has been recommended that array testing should be a "first tier" test in the evaluation of individuals with intellectual disability, developmental delay, congenital anomalies, and autism. The availability of arrays with increasingly high probe coverage and resolution has increased the detection of decreasingly small copy number changes (CNCs) down to the intragenic or even exon level. Importantly, arrays that genotype SNPs also detect extended regions of homozygosity. We describe 14 examples of single gene disorders caused by intragenic changes from a consecutive set of 6,500 tests using high-resolution SNP microarrays. These cases illustrate the increased scope of cytogenetic testing beyond dominant chromosome rearrangements that typically contain many genes. Nine of the cases confirmed the clinical diagnosis, that is, followed a "phenotype to genotype" approach. Five were diagnosed by the laboratory analysis in the absence of a specific clinical diagnosis, that is, followed a "genotype to phenotype" approach. Two were clinically significant, incidental findings. The importance of astute clinical assessment and laboratory-clinician consultation is emphasized to optimize the value of microarrays in the diagnosis of disorders caused by single gene copy number and sequence mutations.


Subject(s)
Congenital Abnormalities/genetics , DNA Copy Number Variations/genetics , Developmental Disabilities/genetics , Intellectual Disability/genetics , Oligonucleotide Array Sequence Analysis/methods , Polymorphism, Single Nucleotide/genetics , Autistic Disorder/diagnosis , Autistic Disorder/genetics , Child , Child, Preschool , Congenital Abnormalities/diagnosis , Developmental Disabilities/diagnosis , Female , Gene Dosage/genetics , Genes, Dominant , Genes, Recessive , Genetic Testing , Humans , Infant , Intellectual Disability/diagnosis , Male , Pregnancy
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