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1.
J Ultrasound Med ; 42(11): 2629-2641, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37376744

RESUMEN

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.
Artículo en Inglés | MEDLINE | ID: mdl-31777943

RESUMEN

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.


Asunto(s)
Bases de Datos Genéticas , Enfermedad/genética , Variación Genética/genética , Genoma Humano , Genómica , Haplotipos , Humanos , Internet , National Library of Medicine (U.S.) , Motor de Búsqueda , Estados Unidos
3.
J Ultrasound Med ; 41(10): 2395-2412, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35103998

RESUMEN

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.


Asunto(s)
Sistema Musculoesquelético , Deportes , Consenso , Técnica Delphi , Humanos , Sistema Musculoesquelético/diagnóstico por imagen , Ultrasonografía/métodos
4.
Br J Sports Med ; 56(3): 127-137, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33967025

RESUMEN

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.


Asunto(s)
Becas , Medicina Deportiva , Competencia Clínica , Curriculum , Humanos , Sociedades Médicas , Medicina Deportiva/educación , Estados Unidos
5.
Br J Sports Med ; 56(6): 310-319, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35110328

RESUMEN

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.


Asunto(s)
Sistema Musculoesquelético , Deportes , Consenso , Técnica Delphi , Humanos , Sistema Musculoesquelético/diagnóstico por imagen , Ultrasonografía/métodos
6.
Clin J Sport Med ; 31(4): e176-e187, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-33958521

RESUMEN

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.


Asunto(s)
Curriculum , Becas , Medicina Deportiva , Competencia Clínica , Humanos , Sociedades Médicas , Medicina Deportiva/educación , Estados Unidos
7.
Nucleic Acids Res ; 46(D1): D1062-D1067, 2018 01 04.
Artículo en Inglés | MEDLINE | ID: mdl-29165669

RESUMEN

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.


Asunto(s)
Bases de Datos de Ácidos Nucleicos , Enfermedad/genética , Variación Genética , Humanos , Fenotipo
8.
J Ultrasound Med ; 39(12): 2469-2482, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32459879

RESUMEN

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.


Asunto(s)
Síndrome del Túnel Carpiano , Síndrome del Túnel Carpiano/diagnóstico por imagen , Causalidad , Humanos , Nervio Mediano/diagnóstico por imagen , Ultrasonografía , Muñeca
9.
J Ultrasound Med ; 39(4): 647-657, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31705714

RESUMEN

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.


Asunto(s)
Cadera/diagnóstico por imagen , Cadera/patología , Tendinopatía/diagnóstico por imagen , Tendinopatía/patología , Ultrasonografía/métodos , Humanos , Dolor/etiología , Dolor/patología , Síndrome , Tendinopatía/complicaciones , Tendones/diagnóstico por imagen , Tendones/patología
10.
Pediatr Dermatol ; 37(3): 447-454, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32065466

RESUMEN

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.


Asunto(s)
Cuidado del Lactante , Piel , Niño , Epidermis , Humanos , Lactante , Cuidados de la Piel
11.
Nucleic Acids Res ; 44(D1): D862-8, 2016 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-26582918

RESUMEN

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.


Asunto(s)
Bases de Datos Genéticas , Enfermedad/genética , Variación Genética , Genes , Genoma Humano , Humanos
12.
J Ultrasound Med ; 36(2): 389-399, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28039889

RESUMEN

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.


Asunto(s)
Nalgas/diagnóstico por imagen , Fémur/diagnóstico por imagen , Dolor/fisiopatología , Tendones/diagnóstico por imagen , Tendones/patología , Ultrasonografía/métodos , Humanos , Síndrome
13.
Nucleic Acids Res ; 41(Database issue): D925-35, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23193275

RESUMEN

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).


Asunto(s)
Bases de Datos Genéticas , Pruebas Genéticas , Sistema de Registros , Genes , Variación Genética , Humanos , Internet , Fenotipo
14.
Br J Sports Med ; 49(3): 152-60, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25540189

RESUMEN

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.


Asunto(s)
Traumatismos en Atletas/diagnóstico por imagen , Fracturas Óseas/diagnóstico por imagen , Medicina Deportiva/métodos , Fracturas de Tobillo/diagnóstico por imagen , Clavícula/diagnóstico por imagen , Clavícula/lesiones , Diagnóstico Diferencial , Peroné/diagnóstico por imagen , Peroné/lesiones , Traumatismos de los Dedos/diagnóstico por imagen , Traumatismos de los Pies/diagnóstico por imagen , Fracturas por Estrés/diagnóstico por imagen , Humanos , Hallazgos Incidentales , Huesos Metatarsianos/diagnóstico por imagen , Huesos Metatarsianos/lesiones , Rótula/diagnóstico por imagen , Rótula/lesiones , Fracturas de la Tibia/diagnóstico por imagen , Fracturas del Cúbito/diagnóstico por imagen , Ultrasonografía
15.
J Ultrasound Med ; 33(9): 1711-6, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25154957

RESUMEN

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.


Asunto(s)
Fascia/diagnóstico por imagen , Enfermedades del Pie/diagnóstico por imagen , Pie/diagnóstico por imagen , Enfermedades Reumáticas/diagnóstico por imagen , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Ultrasonografía
16.
J Ultrasound Med ; 32(7): 1271-84, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23804350

RESUMEN

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.


Asunto(s)
Enfermedades del Pie/diagnóstico por imagen , Traumatismos de los Pies/diagnóstico por imagen , Fracturas Óseas/diagnóstico por imagen , Síndromes de Compresión Nerviosa/diagnóstico por imagen , Dolor/diagnóstico , Dolor/etiología , Traumatismos de los Tejidos Blandos/diagnóstico por imagen , Diagnóstico Diferencial , Enfermedades del Pie/complicaciones , Traumatismos de los Pies/complicaciones , Fracturas Óseas/complicaciones , Humanos , Síndromes de Compresión Nerviosa/complicaciones , Traumatismos de los Tejidos Blandos/complicaciones , Ultrasonografía/métodos
17.
Skeletal Radiol ; 42(9): 1209-14, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23644879

RESUMEN

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.


Asunto(s)
Imagen Multimodal/métodos , Articulación Talocalcánea/anomalías , Articulación Talocalcánea/diagnóstico por imagen , Sinostosis/diagnóstico , Ultrasonografía/métodos , Adolescente , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodos , Adulto Joven
18.
PM R ; 15(2): 203-211, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35077024

RESUMEN

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.


Asunto(s)
Tendones , Pulgar , Adulto , Humanos , Masculino , Anciano , Anciano de 80 o más Años , Pulgar/diagnóstico por imagen , Látex , Estudios Prospectivos , Cadáver
19.
Bull Math Biol ; 73(8): 1909-31, 2011 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21103945

RESUMEN

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.


Asunto(s)
Dermatoglifia del ADN/métodos , Interpretación Estadística de Datos , Modelos Genéticos , Secuencias Repetidas en Tándem , Algoritmos , Alelos , Humanos
20.
Forensic Sci Int Genet ; 51: 102410, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33373910

RESUMEN

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.


Asunto(s)
Artefactos , Dermatoglifia del ADN , Repeticiones de Microsatélite , Modelos Teóricos , Genética Forense , Humanos , Programas Informáticos
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