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1.
Arch Pathol Lab Med ; 143(6): 732-737, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30672336

RESUMO

CONTEXT.­: The College of American Pathologists published guideline recommending bone marrow synoptic reporting for hematologic neoplasms. OBJECTIVE.­: To evaluate the impact of pathology-driven algorithmic testing (PDAT) with integrated reporting for bone marrow examination on test utilization, ability to render a specific World Health Organization diagnosis, and clinician satisfaction 1 year after implementation. DESIGN.­: We reviewed the hematopathology reports, integrated synoptic reports, and ancillary test results generated during a 12-month period. The initial diagnosis from the hematopathology report was compared with the final diagnosis on the integrated synoptic reports. Test utilization data were compared with a previous year in which ancillary testing was ordered at clinician discretion. Clinicians were anonymously surveyed to assess their satisfaction with PDAT and integrated reporting. RESULTS.­: Integrated reporting resulted in a World Health Organization diagnosis for 80 of 85 cases (94%) compared with 54 (64%) for the hematopathology report alone. Unnecessary testing decreased from 45% pre-PDAT (124 of 274 cases) to 0.7% PDAT (2 of 268 cases), and PDAT resulted in fewer omissions of necessary tests. Clinicians preferred PDAT and valued integrated reporting for a variety of reasons, including the ease of finding relevant prognostic information. CONCLUSIONS.­: Pathology-driven algorithmic testing with integrated reporting improves the pathologist's ability to render a specific World Health Organization diagnosis and improves test utilization. Clinicians prefer PDAT to clinician-ordered testing. This is the first study to examine how synoptic reporting can modify hematologic diagnoses.


Assuntos
Algoritmos , Exame de Medula Óssea/normas , Neoplasias Hematológicas/diagnóstico , Patologia Clínica/métodos , Patologia Clínica/normas , Humanos , Relatório de Pesquisa/normas
2.
Case Rep Med ; 2016: 8324791, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27746819

RESUMO

We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia. Review of the literature yielded a total of 11 previous cases. This gene fusion results in a t(5;12)(q31~33;p13) that mimics the t(5;12) found in ETV6-PDGFRB neoplasms. Identification of the fusion genes involved in t(5;12) in eosinophilia-associated myeloproliferative disorders is crucial to direct an effective treatment plan. In particular, while tyrosine kinase inhibitor therapy is effective in patients with PDGFRB rearrangement, there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion. Our patient was found to be nonresponsive to imatinib therapy.

3.
J Assoc Genet Technol ; 42(1): 15-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27183009

RESUMO

UNLABELLED: Chromosomal abnormalities are detected in up to 13% of stillbirths and over 20% of those with developmental anomalies. These estimates may be low since up to 50% of samples fail to achieve a result due to microbial overgrowth or nonviability. Tissue for cytogenetics can be procured at bedside by the clinician or by the pathologist in the laboratory. With clinical collection, tissue is placed into culture media immediately, increasing chances of growth. However, collection competes for attention with other activities, which may result in microbial overgrowth or selection of maternal rather than fetal tissue. Laboratory procurement occurs in a controlled environment using sterile technique, but delay in collection may decrease viability. Our goal was to determine which collection method yields better results. METHODS: We reviewed cases from 2007-2013 that had two samples submitted for cytogenetics, one from the clinician and one from the pathologist. Specimen source, delivery, collection, and culture setup times, harvest date, cell growth, microbial overgrowth, maternal contamination and final result were obtained from medical records and cytogenetic culture sheets. FINDINGS: There was no difference in growth rate, maternal cell contamination, or reporting time between clinician- and pathologist-procured samples despite delay in collection time for laboratory samples. Clinical samples had more microbial overgrowth. Compared to samples collected at bedside, samples collected in the laboratory had a lower rate of microbial contamination with similar growth and maternal cell contamination rates, despite prolonged time to collection. Collecting samples both at bedside and in the laboratory is unnecessary.

4.
J Mol Diagn ; 11(4): 330-3, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19525336

RESUMO

Fluorescent in situ hybridization has become an essential tool for diagnosing and monitoring hematological disease. Testing for minimal residual disease requires precise and accurate normal cut-offs. There is no consensus in the field on the correct method of establishing a normal reference range. We discuss and compare several proposed statistical methods to calculate normal reference ranges, including Gaussian statistics, the beta inverse function, and a binomial treatment of the data. We demonstrate that a binomial treatment of the data is an accurate and simple method to calculate a normal reference range.


Assuntos
Hibridização in Situ Fluorescente/normas , Software , Humanos , Hibridização in Situ Fluorescente/métodos , Distribuição Normal , Valores de Referência , Reprodutibilidade dos Testes
5.
Mt Sinai J Med ; 76(2): 119-28, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19306369

RESUMO

Severe traumatic brain injury is one of the leading causes of death and disability in the United States. The initial management of traumatic brain injury involves early resuscitation, computed tomography scanning, and surgical evacuation of mass lesions, when indicated. Recent research suggests that the prevention and treatment of secondary brain injury decrease mortality and improve outcomes. Specifically, treatment should address not only cerebral protection but also prevention of injury to other organ systems. To achieve the best outcomes, attention must be focused on optimizing blood pressure and brain tissue oxygenation, maintaining adequate cerebral perfusion pressures, and preventing seizures. In addition, maximizing good outcomes depends on proactively addressing the risk of common sequelae of brain injury, including infection, deep venous thrombosis, and inadequate nutrition. Guidelines developed for the management of severe traumatic brain injury have dramatically improved functional neurological outcomes.


Assuntos
Lesões Encefálicas/terapia , Infecções Bacterianas/etiologia , Infecções Bacterianas/prevenção & controle , Lesões Encefálicas/complicações , Lesões Encefálicas/diagnóstico , Lesões Encefálicas/fisiopatologia , Circulação Cerebrovascular/efeitos dos fármacos , Diuréticos/administração & dosagem , Furosemida/administração & dosagem , Humanos , Hipnóticos e Sedativos/administração & dosagem , Hipotensão/etiologia , Hipotensão/prevenção & controle , Hipóxia-Isquemia Encefálica/etiologia , Hipóxia-Isquemia Encefálica/prevenção & controle , Hipertensão Intracraniana/etiologia , Hipertensão Intracraniana/prevenção & controle , Hipotensão Intracraniana/etiologia , Hipotensão Intracraniana/prevenção & controle , Manitol/administração & dosagem , Terapia Nutricional , Guias de Prática Clínica como Assunto , Ressuscitação/métodos , Convulsões/etiologia , Convulsões/prevenção & controle , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Trombose Venosa/etiologia , Trombose Venosa/prevenção & controle
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