Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 48
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
J Ultrasound Med ; 42(11): 2629-2641, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37376744

RESUMO

OBJECTIVES: To 1) determine the types and frequency of complications within 3 months following ultrasound-guided surgical procedures, and 2) identify any patient demographics, co-morbidities, or procedural characteristics that were associated with an increased risk of complications. METHODS: A retrospective chart review was performed at six Sports Medicine clinics across the United States. The Clavien-Dindo classification was used to categorize procedural complications on a 5-point scale from 1, representing any deviation in post-procedure care without requiring pharmacological or invasive treatment to 5, representing death. Generalized Estimating Equations for binomial outcomes with a logit link were used to estimate the overall and procedure-specific 3-month complication rates. RESULTS: Among 1902 patients, 8.1% (n = 154) had diabetes and 6.3% (n = 119) were current smokers. The analysis included 2,369 procedures, which were performed in either the upper extremity (44.1%, n = 1045) or lower extremity (55.2%, n = 1308) regions. The most common procedure was ultrasound-guided tenotomy (69.9%, n = 1655). Additional procedures included, trigger finger release (13.1%, n = 310), tendon scraping (8.0%, n = 189), carpal tunnel release (5.4%, n = 128), soft tissue release (2.1%, n = 50), and compartment fasciotomy (1.6%, n = 37). Overall, there was a complication rate of 1.2% (n = 29 complications; 95% CI: 0.8-1.7%). Individual procedures had complication rates that ranged from 0 to 2.7%. There were 13 Grade I complications in 13 patients, 12 Grade II complications in 10 patients, 4 Grade III complications in 4 patients, and 0 Grade IV or V complications. No associations between complication risk and any patient demographics (age, sex, BMI), co-morbidities (diabetes, smoker), or procedure characteristics (type, region) were identified. CONCLUSION: This retrospective review provides an evidence-based estimate supporting the low level of risk associated with ultrasound-guided surgical procedures for patients from a variety of geographical settings who are seeking care at private and academic-affiliated clinics.

2.
Nucleic Acids Res ; 48(D1): D835-D844, 2020 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-31777943

RESUMO

ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggregated and made available on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/), and as downloadable files via FTP and through programmatic tools such as NCBI's E-utilities. The default view on the ClinVar website, the Variation page, was recently redesigned. The new layout includes several new sections that make it easier to find submitted data as well as summary data such as all diseases and citations reported for the variant. The new design also better represents more complex data such as haplotypes and genotypes, as well as variants that are in ClinVar as part of a haplotype or genotype but have no interpretation for the single variant. ClinVar's variant-centric XML had its production release in April 2019. The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file. ClinVar's search engine has been fine-tuned for improved retrieval of search results.


Assuntos
Bases de Dados Genéticas , Doença/genética , Variação Genética/genética , Genoma Humano , Genômica , Haplótipos , Humanos , Internet , National Library of Medicine (U.S.) , Ferramenta de Busca , Estados Unidos
3.
J Ultrasound Med ; 41(10): 2395-2412, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35103998

RESUMO

OBJECTIVES: The current lack of agreement regarding standardized terminology in musculoskeletal and sports ultrasound presents challenges in education, clinical practice, and research. This consensus was developed to provide a reference to improve clarity and consistency in communication. METHODS: A multidisciplinary expert panel was convened consisting of 18 members representing multiple specialty societies identified as key stakeholders in musculoskeletal and sports ultrasound. A Delphi process was used to reach consensus which was defined as group level agreement >80%. RESULTS: Content was organized into seven general topics including: 1) General Definitions, 2) Equipment and Transducer Manipulation, 3) Anatomic and Descriptive Terminology, 4) Pathology, 5) Procedural Terminology, 6) Image Labeling, and 7) Documentation. Terms and definitions which reached consensus agreement are presented herein. CONCLUSIONS: The historic use of multiple similar terms in the absence of precise definitions has led to confusion when conveying information between colleagues, patients, and third-party payers. This multidisciplinary expert consensus addresses multiple areas of variability in diagnostic ultrasound imaging and ultrasound-guided procedures related to musculoskeletal and sports medicine.


Assuntos
Sistema Musculoesquelético , Esportes , Consenso , Técnica Delphi , Humanos , Sistema Musculoesquelético/diagnóstico por imagem , Ultrassonografia/métodos
4.
Br J Sports Med ; 56(3): 127-137, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33967025

RESUMO

Sports ultrasound is commonly used by sports medicine physicians to enhance diagnostic and procedural accuracy. This expert consensus statement serves as an update to the 2015 American Medical Society for Sports Medicine recommended sports ultrasound curriculum for sports medicine fellowships. Although written in the context of the American sports medicine fellowship training model, we present a stepwise progression in both diagnostic and interventional sports ultrasound that may be applicable to the broader sports medicine community. The curriculum is divided into 12 units with each unit including didactic instructional sessions, practical hands-on instruction, independent scanning practice sessions and mentored clinical experience. To assist with prioritisation of learning, we have organised relevant pathology and procedures as essential, desirable and optional The expanded content can serve as an outline for continuing education postfellowship or for any physician to further advance their sports ultrasound knowledge and skill. We also provide updated scanning protocols, sample milestones and a sample objective structured clinical examination to aid fellowships with implementation of the curriculum and ongoing assessment of fellow progress.


Assuntos
Bolsas de Estudo , Medicina Esportiva , Competência Clínica , Currículo , Humanos , Sociedades Médicas , Medicina Esportiva/educação , Estados Unidos
5.
Br J Sports Med ; 56(6): 310-319, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35110328

RESUMO

The current lack of agreement regarding standardised terminology in musculoskeletal and sports ultrasound presents challenges in education, clinical practice and research. This consensus was developed to provide a reference to improve clarity and consistency in communication. A multidisciplinary expert panel was convened consisting of 18 members representing multiple specialty societies identified as key stakeholders in musculoskeletal and sports ultrasound. A Delphi process was used to reach consensus, which was defined as group level agreement of >80%. Content was organised into seven general topics including: (1) general definitions, (2) equipment and transducer manipulation, (3) anatomical and descriptive terminology, (4) pathology, (5) procedural terminology, (6) image labelling and (7) documentation. Terms and definitions which reached consensus agreement are presented herein. The historic use of multiple similar terms in the absence of precise definitions has led to confusion when conveying information between colleagues, patients and third-party payers. This multidisciplinary expert consensus addresses multiple areas of variability in diagnostic ultrasound imaging and ultrasound-guided procedures related to musculoskeletal and sports medicine.


Assuntos
Sistema Musculoesquelético , Esportes , Consenso , Técnica Delphi , Humanos , Sistema Musculoesquelético/diagnóstico por imagem , Ultrassonografia/métodos
6.
Clin J Sport Med ; 31(4): e176-e187, 2021 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-33958521

RESUMO

ABSTRACT: Sports ultrasound is commonly used by sports medicine physicians to enhance diagnostic and procedural accuracy. This expert consensus statement serves as an update to the 2015 American Medical Society for Sports Medicine recommended sports ultrasound curriculum for sports medicine fellowships. Although written in the context of the American sports medicine fellowship training model, we present a stepwise progression in both diagnostic and interventional sports ultrasound that may be applicable to the broader sports medicine community. The curriculum is divided into 12 units with each unit including didactic instructional sessions, practical hands-on instruction, independent scanning practice sessions, and mentored clinical experience. To assist with prioritization of learning, we have organized relevant pathology and procedures as essential, desirable, and optional. The expanded content can serve as an outline for continuing education postfellowship or for any physician to further advance their sports ultrasound knowledge and skill. We also provide updated scanning protocols, sample milestones, and a sample objective structured clinical examination (OSCE) to aid fellowships with implementation of the curriculum and ongoing assessment of fellow progress.


Assuntos
Currículo , Bolsas de Estudo , Medicina Esportiva , Competência Clínica , Humanos , Sociedades Médicas , Medicina Esportiva/educação , Estados Unidos
7.
Nucleic Acids Res ; 46(D1): D1062-D1067, 2018 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-29165669

RESUMO

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant ('provider interpretation') or from groups such as patient registries that primarily provide phenotypic information from patients ('phenotyping only'). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.


Assuntos
Bases de Dados de Ácidos Nucleicos , Doença/genética , Variação Genética , Humanos , Fenótipo
8.
J Ultrasound Med ; 39(12): 2469-2482, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32459879

RESUMO

The most common etiology of carpal tunnel syndrome (CTS) is idiopathic. However, secondary causes of CTS should be considered when symptoms are unilateral, or electrodiagnostic studies are discrepant with the clinical presentation. Imaging of the carpal tunnel should be performed when secondary causes of CTS are suspected. An ultrasound evaluation of the carpal tunnel can assess for pathologic changes of the median nerve, detect secondary causes of CTS, and aid in surgical planning.


Assuntos
Síndrome do Túnel Carpal , Síndrome do Túnel Carpal/diagnóstico por imagem , Causalidade , Humanos , Nervo Mediano/diagnóstico por imagem , Ultrassonografia , Punho
9.
J Ultrasound Med ; 39(4): 647-657, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31705714

RESUMO

Gluteus minimus disorders are a potential source of greater trochanteric or anterior hip pain. Disorders of the gluteus minimus tendon most commonly occur in conjunction with gluteus medius tendon abnormalities but can also occur in isolation. Understanding the sonoanatomy of the gluteus minimus muscle-tendon unit is a prerequisite for recognizing and characterizing gluteus minimus tendon disorders, which, in turn, guides treatment for patients with greater trochanteric or anterior hip pain syndromes.


Assuntos
Quadril/diagnóstico por imagem , Quadril/patologia , Tendinopatia/diagnóstico por imagem , Tendinopatia/patologia , Ultrassonografia/métodos , Humanos , Dor/etiologia , Dor/patologia , Síndrome , Tendinopatia/complicações , Tendões/diagnóstico por imagem , Tendões/patologia
10.
Pediatr Dermatol ; 37(3): 447-454, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32065466

RESUMO

In the diapered area, the continuous exposure to excess moisture and irritants from urine and feces weakens the stratum corneum, making the skin more susceptible to irritation. The use of wet wipes for infants (baby wipes) is a common practice to clean skin after urine or a bowel movement, and this practice even extends to cleaning the hands and face, resulting in repeated daily use. Therefore, ensuring that baby wipes contain ingredients that are safe and mild on skin is important to help minimize skin irritation and discomfort. While disposable baby wipes have been shown to be effective and gentle at cleaning infant skin, even the skin of premature infants, there is growing public concern regarding their safety and tolerability. Not all products are made the same, as differences exist in manufacturing processes, ingredients, materials, safety, and quality testing. Therefore, it is important that healthcare professionals have accessible evidenced-based information on the safety and tolerability of common ingredients found in baby wipes to optimally educate their patients and families. Herein, we provide a review on best practices for ingredient selection, safety, and efficacy of baby wipes.


Assuntos
Cuidado do Lactente , Pele , Criança , Epiderme , Humanos , Lactente , Higiene da Pele
11.
Nucleic Acids Res ; 44(D1): D862-8, 2016 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-26582918

RESUMO

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.


Assuntos
Bases de Dados Genéticas , Doença/genética , Variação Genética , Genes , Genoma Humano , Humanos
12.
J Ultrasound Med ; 36(2): 389-399, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28039889

RESUMO

Greater trochanteric pain syndrome is a common clinical entity that most often results from disorders of the gluteus medius tendon. There are two distinct bands of the gluteus medius tendon, and abnormalities may affect the anterior or posterior band in isolation or simultaneously. Although abnormalities of the anterior band are more common, awareness and sonographic detection of posterior band abnormalities is essential to guide treatment in the setting of greater trochanteric pain syndrome.


Assuntos
Nádegas/diagnóstico por imagem , Fêmur/diagnóstico por imagem , Dor/fisiopatologia , Tendões/diagnóstico por imagem , Tendões/patologia , Ultrassonografia/métodos , Humanos , Síndrome
13.
Nucleic Acids Res ; 41(Database issue): D925-35, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23193275

RESUMO

The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).


Assuntos
Bases de Dados Genéticas , Testes Genéticos , Sistema de Registros , Genes , Variação Genética , Humanos , Internet , Fenótipo
14.
Br J Sports Med ; 49(3): 152-60, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25540189

RESUMO

High-resolution ultrasound is emerging as an important imaging modality in fracture assessment due to its availability, ease of use and multiplanar capabilities. Its usefulness includes injury assessment for the presence of a fracture when obtaining radiographs is not immediately available, detecting occult fractures not revealed on radiographs, and diagnosing bone stress injury before radiographic changes. Sonographic evaluation of bone, however, has limitations and should always be coupled with radiographs and possibly advanced imaging modalities such as CT and MR when clinically indicated.


Assuntos
Traumatismos em Atletas/diagnóstico por imagem , Fraturas Ósseas/diagnóstico por imagem , Medicina Esportiva/métodos , Fraturas do Tornozelo/diagnóstico por imagem , Clavícula/diagnóstico por imagem , Clavícula/lesões , Diagnóstico Diferencial , Fíbula/diagnóstico por imagem , Fíbula/lesões , Traumatismos dos Dedos/diagnóstico por imagem , Traumatismos do Pé/diagnóstico por imagem , Fraturas de Estresse/diagnóstico por imagem , Humanos , Achados Incidentais , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/lesões , Patela/diagnóstico por imagem , Patela/lesões , Fraturas da Tíbia/diagnóstico por imagem , Fraturas da Ulna/diagnóstico por imagem , Ultrassonografia
15.
J Ultrasound Med ; 33(9): 1711-6, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25154957

RESUMO

The objective of this study was to raise awareness of the diagnosis of enthesopathy of the lateral cord of the plantar fascia (LCPF) and describe its sonographic findings. We conducted a retrospective case series of 13 sonographic examinations with the diagnosis of LCPF enthesopathy. Two cadaver dissections of the plantar foot were performed for anatomic correlation. Sonographic findings of LCPF enthesopathy included generalized or focal hypoechoic thickening, loss of the normal fibrillar echo texture, cortical irregularity of the fifth metatarsal tuberosity, and vascularity on color Doppler imaging. Anatomic dissections of the plantar foot detailed the course of the LCPF and served as a guide for optimal sonographic imaging. Enthesopathy of the LCPF is an important etiology of nontraumatic pain at the base of the fifth metatarsal. Sonographic evaluation can readily show the characteristic findings of LCPF enthesopathy.


Assuntos
Fáscia/diagnóstico por imagem , Doenças do Pé/diagnóstico por imagem , Pé/diagnóstico por imagem , Doenças Reumáticas/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ultrassonografia
16.
J Ultrasound Med ; 32(7): 1271-84, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23804350

RESUMO

Plantar hindfoot and midfoot pain is a common orthopedic condition. Plantar fasciopathy is the most common cause of plantar foot pain, and sonographic evaluation can easily show the characteristic pathologic changes. In addition, sonography is well suited to evaluate other potential causes of plantar foot pain. We present a review of the sonographic findings of plantar fasciopathy and other potential causes of plantar hindfoot and midfoot pain.


Assuntos
Doenças do Pé/diagnóstico por imagem , Traumatismos do Pé/diagnóstico por imagem , Fraturas Ósseas/diagnóstico por imagem , Síndromes de Compressão Nervosa/diagnóstico por imagem , Dor/diagnóstico , Dor/etiologia , Lesões dos Tecidos Moles/diagnóstico por imagem , Diagnóstico Diferencial , Doenças do Pé/complicações , Traumatismos do Pé/complicações , Fraturas Ósseas/complicações , Humanos , Síndromes de Compressão Nervosa/complicações , Lesões dos Tecidos Moles/complicações , Ultrassonografia/métodos
17.
Skeletal Radiol ; 42(9): 1209-14, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23644879

RESUMO

OBJECTIVE: To present the ultrasound appearance of talocalcaneal coalitions (TCC). MATERIALS AND METHODS: We present a retrospective review of 11 patients (8 women and 3 men, age range 17-58 years, mean age 35.3 years) in which ultrasound, the first imaging study carried out, detected a TCC that was not known or suspected clinically. Patients were subsequently examined by standard radiographs, computed tomography (CT) or magnetic resonance imaging (MRI). RESULTS: In 9 patients with fibrous coalition ultrasound showed a reduced joint space of the medial aspect of the anterior talocalcaneal joint associated with an irregular, pointed appearance of its outline. In 2 patients with osseous coalitions ultrasound revealed a smooth continuity of the hyperechoic bone surface between the medial talus and the substentaculum tali. The diagnosis was confirmed in 4 patients with CT and in 3 with MRI. In the remaining 4 patients standard radiographs were consistent with TCC. CONCLUSION: Owing to its tomographic capabilities ultrasound can detect TCC. We suggest that study of the anterior subtalar joint should be a part of every ankle ultrasound examination as it can show a clinically unsuspected TCC. Confirmation of the coalition by CT or MRI is required in the preoperative assessment to better assess the type and extent of the congenital anomaly as well as the adjacent joints.


Assuntos
Imagem Multimodal/métodos , Articulação Talocalcânea/anormalidades , Articulação Talocalcânea/diagnóstico por imagem , Sinostose/diagnóstico , Ultrassonografia/métodos , Adolescente , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
18.
PM R ; 15(2): 203-211, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-35077024

RESUMO

BACKGROUND: The thumb annular pulley system is unique from the other digits and is integral to normal thumb function. Injuries to this pulley system can present a diagnostic challenge. No prior study has evaluated the ability of ultrasound (US) to evaluate all four thumb pulleys. OBJECTIVE: To validate the sonographic visualization of all four thumb pulleys. DESIGN: Prospective cadaveric laboratory investigation. SETTING: Academic center procedural skills laboratory. PARTICIPANTS: Twelve unembalmed cadaveric hands from seven adult male donors ages 78-89 years with body mass index 21.9-26.6 kg/m2 . INTERVENTIONS: Based on anatomic descriptions, a single examiner used a standardized protocol and high-frequency linear transducers to identify the A1, variable (Av), oblique (Ao), and A2 pulleys of the thumb in 10 cadaveric hands. As part of the validation process, the presumed Ao pulley was injected with diluted colored latex using US guidance. Two additional cadaveric specimens were dissected for detailed study of the thumb pulley system. MAIN OUTCOME MEASURES: Correlation between the four anatomic pulleys as revealed by dissection and the US findings, including identification of latex location with respect to the Ao pulley. RESULTS: US correctly identified all four thumb pulleys as distinct anatomic structures and the sonographic appearance of the pulleys correlated with the dissection in all 10 specimens. Latex was observed in the Ao pulley in 100% of the cadavers. CONCLUSIONS: Ultrasound can be used to accurately identify all four thumb pulleys, including distinct Ao and Av pulleys, and should be considered in the evaluation of thumb pulley injuries. This is the first study to validate the US visualization of the annular pulley system of the thumb.


Assuntos
Tendões , Polegar , Adulto , Humanos , Masculino , Idoso , Idoso de 80 Anos ou mais , Polegar/diagnóstico por imagem , Látex , Estudos Prospectivos , Cadáver
19.
Bull Math Biol ; 73(8): 1909-31, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21103945

RESUMO

Multiplex DNA profiles are used extensively for biomedical and forensic purposes. However, while DNA profile data generation is automated, human analysis of those data is not, and the need for speed combined with accuracy demands a computer-automated approach to sample interpretation and quality assessment. In this paper, we describe an integrated mathematical approach to modeling the data and extracting the relevant information, while rejecting noise and sample artifacts. We conclude with examples showing the effectiveness of our algorithms.


Assuntos
Impressões Digitais de DNA/métodos , Interpretação Estatística de Dados , Modelos Genéticos , Sequências de Repetição em Tandem , Algoritmos , Alelos , Humanos
20.
Forensic Sci Int Genet ; 51: 102410, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33373910

RESUMO

OSIRIS is a mathematically-based software tool for Short Tandem Repeat (STR) and DNA fragment analysis (https://www.ncbi.nlm.nih.gov/osiris/). As part of its routine sample analyses, OSIRIS computes unique quality metrics that can be used for sample quality assessment. A common artifact of STR analysis is cross-channel pull-up or pull-down (negative pull-up). This occurs because of the spectral overlap between the dyes used with the marker set, and the failure of the color deconvolution matrix to isolate the colors in the dye set adequately. This paper describes a mathematical method for analyzing and quantifying the pull-up patterns across sample channels and effectively identifying and correcting the pull-up artifacts, as implemented in OSIRIS. Unlike approaches to pull-up that require a training set composed of previous samples, the algorithm described here uses a mathematical model of the underlying causes of pull-up. It is based solely on the information intrinsic to the sample it is analyzing and therefore incorporates the effects of the ambient conditions and the specific procedures used in creating the sample. These conditions are the physical determinants of the level of pull-up in the sample and are not likely to be represented in a training set consisting of past samples.


Assuntos
Artefatos , Impressões Digitais de DNA , Repetições de Microssatélites , Modelos Teóricos , Genética Forense , Humanos , Software
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA