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1.
Front Pediatr ; 7: 70, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30937298

RESUMO

Background: Early diagnosis of primary immunodeficiency disease leads to reductions in illness and decreased healthcare costs. Analysis of electronic health record data may allow for identification of persons at risk of host-defense impairments from within the general population. Our hypothesis was that coded infection history would inform individual risk of disease and ultimately lead to diagnosis. Methods: In this study we assessed individual risk for primary immunodeficiency by analyzing diagnostic codes and pharmacy records from members (n = 185,892) of a large pediatric health network. Relevant infection-associated diagnostic codes were weighted and enumerated for individual members allowing for risk score calculations ("Risk Vital Sign"). At-risk individuals underwent further assessment by chart review and re-analysis of diagnostic codes 12 months later. Results: Of the original cohort, 2188 (1.2%) individuals were identified as medium-high-risk for having a primary immunodeficiency. This group included 41 subjects who were ultimately diagnosed with primary immunodeficiency. An additional 57 medium-high risk patients had coded diagnoses worthy of referral. Conclusions: Population-wide informatics approaches can facilitate disease detection and improve outcomes. Early identification of the 98 patients with confirmed or suspected primary immunodeficiency described here could represent an annual cost savings of up to $7.7 million US Dollars.

2.
Forensic Sci Int ; 262: 66-72, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26970869

RESUMO

As a passive blood drop impacts a hard surface, it is observed to collapse and spread laterally, then retract and settle. During the spreading phase, the edge of the drop may rise forming a crown extending into spines and breaking up into secondary drops. When a similar drop falls onto a textile surface these same processes may occur, but the process of blood wicking into the fabric complicates stain formation. These processes are described within for passive drip stains collected under controlled conditions using anticoagulated porcine blood. Three stages of this impact process were identified and could be separated into distinct time zones: (1) spreading (time t≤2.5ms) and (2) retraction (2.5≤t≤12ms) on the surface with potential splashing at the periphery, and (3) wicking (30ms ≤t≤30min) of the blood into the fabric. Although wetting and wicking may also occur for t<30ms, the vast majority of wetting and wicking occur after this time and thus the short-time wicking can be ignored. In addition, the number of satellite stains correlates with the surface roughness with the number of satellites for jersey knit>plain-woven>cardboard. Conversely, the size of the satellite stains correlates with the amount of wicking in the fabric with the satellite stain size for plain-woven>jersey knit>cardboard.


Assuntos
Manchas de Sangue , Têxteis , Animais , Medicina Legal , Fenômenos Físicos , Propriedades de Superfície , Suínos
3.
Blood ; 118(10): 2688-94, 2011 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-21725047

RESUMO

Genetic deficiency of adenosine deaminase (ADA) can cause profound lymphopenia and result in the clinical presentation of severe combined immune deficiency (SCID). However, because of the ubiquitous expression of ADA, ADA-deficient patients often present also with nonimmunologic clinical problems, affecting the skeletal, central nervous, endocrine, and gastrointestinal systems. We now report that myeloid dysplasia features and bone marrow hypocellularity are often found in patients with ADA-SCID. As a clinical correlate to this finding, we have observed vulnerability to antibiotic-induced myelotoxicity and prolonged neutropenia after nonmyeloablative chemotherapy. We have also noted that, in the absence of enzyme replacement therapy, absolute neutrophil counts of patients with ADA deficiency vary inversely with the accumulation of deoxynucleotides. These data have significant implications for the application of standard and investigational therapies to patients with ADA-SCID and support further studies to investigate the possibility that ADA deficiency is associated with a stem cell defect. These trials were registered at www.clinicaltrials.gov as #NCT00018018 and #NCT00006319.


Assuntos
Adenosina Desaminase/deficiência , Agamaglobulinemia/complicações , Medula Óssea/patologia , Síndromes Mielodisplásicas/etiologia , Imunodeficiência Combinada Severa/complicações , Adenosina Desaminase/genética , Adolescente , Adulto , Agamaglobulinemia/terapia , Transplante de Medula Óssea , Criança , Pré-Escolar , Feminino , Terapia Genética , Humanos , Lactente , Masculino , Síndromes Mielodisplásicas/terapia , Imunodeficiência Combinada Severa/terapia , Adulto Jovem
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