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  1. Article: Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.

    Hirschi, Owen R / Felker, Stephanie A / Rednam, Surya P / Vallance, Kelly L / Parsons, D Williams / Roy, Angshumoy / Cooper, Gregory M / Plon, Sharon E

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Background: Current clinical variant analysis pipelines focus on coding variants and intronic variants within 10-20 bases of an exon-intron boundary that may affect splicing. The impact of newer splicing prediction algorithms combined with : Methods: ...

    Abstract Background: Current clinical variant analysis pipelines focus on coding variants and intronic variants within 10-20 bases of an exon-intron boundary that may affect splicing. The impact of newer splicing prediction algorithms combined with
    Methods: Exome sequencing data from 576 pediatric cancer patients enrolled in the Texas KidsCanSeq study were filtered for intronic or synonymous variants absent from population databases, predicted to alter splicing via SpliceAI (>0.20), and scored as potentially deleterious by CADD (>10.0). Total cellular RNA was extracted from monocytes and RT-PCR products analyzed. Subsequently, rare synonymous or intronic B/LB variants in a subset of genes submitted to ClinVar were similarly evaluated. Variants predicted to lead to a frameshifted splicing product were functionally assessed using an
    Results: KidsCanSeq exome data analysis revealed a rare, heterozygous, intronic variant (NM_177438.3(
    Conclusions: Our results demonstrate the power of newer predictive splicing algorithms to highlight rare variants previously considered B/LB in patients with features of hereditary conditions. Incorporation of SpliceAI annotation of existing variant data combined with either direct RNA analysis or
    Language English
    Publishing date 2023-11-01
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.10.30.23297632
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.

    Moyers, Belle A / Loupe, Jacob M / Felker, Stephanie A / Lawlor, James M J / Anderson, Ashlyn G / Rodriguez-Nunez, Ivan / Bunney, William E / Bunney, Blynn G / Cartagena, Preston M / Sequeira, Adolfo / Watson, Stanley J / Akil, Huda / Mendenhall, Eric M / Cooper, Gregory M / Myers, Richard M

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Transcription Factors (TFs) influence gene expression by facilitating or disrupting the formation of transcription initiation machinery at particular genomic loci. Because genomic localization of TFs is in part driven by TF recognition of DNA sequence, ... ...

    Abstract Transcription Factors (TFs) influence gene expression by facilitating or disrupting the formation of transcription initiation machinery at particular genomic loci. Because genomic localization of TFs is in part driven by TF recognition of DNA sequence, variation in TF binding sites can disrupt TF-DNA associations and affect gene regulation. To identify variants that impact TF binding in human brain tissues, we quantified allele bias for 93 TFs analyzed with ChIP-seq experiments of multiple structural brain regions from two donors. Using graph genomes constructed from phased genomic sequence data, we compared ChIP-seq signal between alleles at heterozygous variants within each tissue sample from each donor. Comparison of results from different brain regions within donors and the same regions between donors provided measures of allele bias reproducibility. We identified thousands of DNA variants that show reproducible bias in ChIP-seq for at least one TF. We found that alleles that are rarer in the general population were more likely than common alleles to exhibit large biases, and more frequently led to reduced TF binding. Combining ChIP-seq with RNA-seq, we identified TF-allele interaction biases with RNA bias in a phased allele linked to 6,709 eQTL variants identified in GTEx data, 3,309 of which were found in neural contexts. Our results provide insights into the effects of both common and rare variation on gene regulation in the brain. These findings can facilitate mechanistic understanding of cis-regulatory variation associated with biological traits, including disease.
    Language English
    Publishing date 2023-10-09
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.10.06.561245
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

    Voskobiynyk, Yuliya / Battu, Gopal / Felker, Stephanie A / Cochran, J Nicholas / Newton, Megan P / Lambert, Laura J / Kesterson, Robert A / Myers, Richard M / Cooper, Gregory M / Roberson, Erik D / Barsh, Gregory S

    PLoS genetics

    2021  Volume 17, Issue 1, Page(s) e1009195

    Abstract: Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease- ... ...

    Abstract Dravet syndrome (DS) is a developmental and epileptic encephalopathy that results from mutations in the Nav1.1 sodium channel encoded by SCN1A. Most known DS-causing mutations are in coding regions of SCN1A, but we recently identified several disease-associated SCN1A mutations in intron 20 that are within or near to a cryptic and evolutionarily conserved "poison" exon, 20N, whose inclusion is predicted to lead to transcript degradation. However, it is not clear how these intron 20 variants alter SCN1A expression or DS pathophysiology in an organismal context, nor is it clear how exon 20N is regulated in a tissue-specific and developmental context. We address those questions here by generating an animal model of our index case, NM_006920.4(SCN1A):c.3969+2451G>C, using gene editing to create the orthologous mutation in laboratory mice. Scn1a heterozygous knock-in (+/KI) mice exhibited an ~50% reduction in brain Scn1a mRNA and Nav1.1 protein levels, together with characteristics observed in other DS mouse models, including premature mortality, seizures, and hyperactivity. In brain tissue from adult Scn1a +/+ animals, quantitative RT-PCR assays indicated that ~1% of Scn1a mRNA included exon 20N, while brain tissue from Scn1a +/KI mice exhibited an ~5-fold increase in the extent of exon 20N inclusion. We investigated the extent of exon 20N inclusion in brain during normal fetal development in RNA-seq data and discovered that levels of inclusion were ~70% at E14.5, declining progressively to ~10% postnatally. A similar pattern exists for the homologous sodium channel Nav1.6, encoded by Scn8a. For both genes, there is an inverse relationship between the level of functional transcript and the extent of poison exon inclusion. Taken together, our findings suggest that poison exon usage by Scn1a and Scn8a is a strategy to regulate channel expression during normal brain development, and that mutations recapitulating a fetal-like pattern of splicing cause reduced channel expression and epileptic encephalopathy.
    MeSH term(s) Animals ; Brain/metabolism ; Brain/pathology ; Disease Models, Animal ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/pathology ; Exons/genetics ; Gene Expression Regulation/genetics ; Gene Knock-In Techniques ; Humans ; Introns/genetics ; Mice ; Mutation/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; Organ Specificity/genetics ; RNA-Seq
    Chemical Substances NAV1.1 Voltage-Gated Sodium Channel ; NAV1.6 Voltage-Gated Sodium Channel ; SCN1A protein, human ; Scn1a protein, mouse ; Scn8a protein, mouse
    Language English
    Publishing date 2021-01-07
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2186725-2
    ISSN 1553-7404 ; 1553-7390
    ISSN (online) 1553-7404
    ISSN 1553-7390
    DOI 10.1371/journal.pgen.1009195
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

    Felker, Stephanie A / Lawlor, James Mj / Hiatt, Susan M / Thompson, Michelle L / Latner, Donald R / Finnila, Candice R / Bowling, Kevin M / Bonnstetter, Zachary T / Bonini, Katherine E / Kelly, Nicole R / Kelley, Whitley V / Hurst, Anna Ce / Kelly, Melissa A / Nakouzi, Ghunwa / Hendon, Laura G / Bebin, E Martina / Kenny, Eimear E / Cooper, Gregory M

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze "poison ... ...

    Abstract Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze "poison exons" (PEs) which, while often absent from standard gene annotations, are alternative exons whose inclusion results in a premature termination codon. Variants that alter PE inclusion can lead to loss-of-function and may be highly penetrant contributors to disease.
    Methods: We curated published RNA-seq data from developing mouse cortex to define 1,937 PE regions conserved between humans and mice and potentially relevant to NDDs. We then analyzed variants found by genome sequencing in multiple NDD cohorts.
    Results: Across 2,999 probands, we found six clinically relevant variants in PE regions that were previously overlooked. Five of these variants are in genes that are part of the sodium voltage-gated channel alpha subunit family (
    Conclusion: With only a minimal increase in variant analysis burden (most probands had zero or one candidate PE variants in a known NDD gene, with an average of 0.77 per proband), annotation of PEs can improve diagnostic yield for NDDs and likely other congenital conditions.
    Language English
    Publishing date 2023-01-13
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.12.523654
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

    Felker, Stephanie A / Lawlor, James M J / Hiatt, Susan M / Thompson, Michelle L / Latner, Donald R / Finnila, Candice R / Bowling, Kevin M / Bonnstetter, Zachary T / Bonini, Katherine E / Kelly, Nicole R / Kelley, Whitley V / Hurst, Anna C E / Rashid, Salman / Kelly, Melissa A / Nakouzi, Ghunwa / Hendon, Laura G / Bebin, E Martina / Kenny, Eimear E / Cooper, Gregory M

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 25, Issue 8, Page(s) 100884

    Abstract: Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant variants may be missed by standard analyses. Here, we analyze "poison exons" ...

    Abstract Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant variants may be missed by standard analyses. Here, we analyze "poison exons" (PEs), which are evolutionarily conserved alternative exons often absent from standard gene annotations. Variants that alter PE inclusion can lead to loss of function and may be highly penetrant contributors to disease.
    Methods: We curated published RNA sequencing data from developing mouse cortex to define 1937 conserved PE regions potentially relevant to NDDs, and we analyzed variants found by genome sequencing in multiple NDD cohorts.
    Results: Across 2999 probands, we found 6 novel clinically relevant variants in PE regions. Five of these variants are in genes that are part of the sodium voltage-gated channel alpha subunit family (SCN1A, SCN2A, and SCN8A), which is associated with epilepsies. One variant is in SNRPB, associated with cerebrocostomandibular syndrome. These variants have moderate to high computational impact assessments, are absent from population variant databases, and in genes with gene-phenotype associations consistent with each probands reported features.
    Conclusion: With a very minimal increase in variant analysis burden (average of 0.77 variants per proband), annotation of PEs can improve diagnostic yield for NDDs and likely other congenital conditions.
    MeSH term(s) Animals ; Mice ; Humans ; Exons/genetics ; Epilepsy/diagnosis ; Epilepsy/genetics ; Phenotype ; Base Sequence ; Genomics
    Language English
    Publishing date 2023-05-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100884
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Newly Diagnosed Breast Cancer: Comparison of Contrast-enhanced Spectral Mammography and Breast MR Imaging in the Evaluation of Extent of Disease.

    Lee-Felker, Stephanie A / Tekchandani, Leena / Thomas, Mariam / Gupta, Esha / Andrews-Tang, Denise / Roth, Antoinette / Sayre, James / Rahbar, Guita

    Radiology

    2017  Volume 285, Issue 2, Page(s) 389–400

    Abstract: Purpose To compare the diagnostic performances of contrast material-enhanced spectral mammography and breast magnetic resonance (MR) imaging in the detection of index and secondary cancers in women with newly diagnosed breast cancer by using histologic ... ...

    Abstract Purpose To compare the diagnostic performances of contrast material-enhanced spectral mammography and breast magnetic resonance (MR) imaging in the detection of index and secondary cancers in women with newly diagnosed breast cancer by using histologic or imaging follow-up as the standard of reference. Materials and Methods This institutional review board-approved, HIPAA-compliant, retrospective study included 52 women who underwent breast MR imaging and contrast-enhanced spectral mammography for newly diagnosed unilateral breast cancer between March 2014 and October 2015. Of those 52 patients, 46 were referred for contrast-enhanced spectral mammography and targeted ultrasonography because they had additional suspicious lesions at MR imaging. In six of the 52 patients, breast cancer had been diagnosed at an outside institution. These patients were referred for contrast-enhanced spectral mammography and targeted US as part of diagnostic imaging. Images from contrast-enhanced spectral mammography were analyzed by two fellowship-trained breast imagers with 2.5 years of experience with contrast-enhanced spectral mammography. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value were calculated for both imaging modalities and compared by using the Bennett statistic. Results Fifty-two women with 120 breast lesions were included for analysis (mean age, 50 years; range, 29-73 years). Contrast-enhanced spectral mammography had similar sensitivity to MR imaging (94% [66 of 70 lesions] vs 99% [69 of 70 lesions]), a significantly higher PPV than MR imaging (93% [66 of 71 lesions] vs 60% [69 of 115 lesions]), and fewer false-positive findings than MR imaging (five vs 45) (P < .001 for all results). In addition, contrast-enhanced spectral mammography depicted 11 of the 11 secondary cancers (100%) and MR imaging depicted 10 (91%). Conclusion Contrast-enhanced spectral mammography is potentially as sensitive as MR imaging in the evaluation of extent of disease in newly diagnosed breast cancer, with a higher PPV.
    MeSH term(s) Adult ; Aged ; Breast Neoplasms/diagnostic imaging ; Contrast Media ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Magnetic Resonance Imaging/statistics & numerical data ; Mammography/methods ; Mammography/statistics & numerical data ; Middle Aged ; Retrospective Studies ; Sensitivity and Specificity
    Chemical Substances Contrast Media
    Language English
    Publishing date 2017-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80324-8
    ISSN 1527-1315 ; 0033-8419
    ISSN (online) 1527-1315
    ISSN 0033-8419
    DOI 10.1148/radiol.2017161592
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Efficacy of imaging-guided percutaneous radiofrequency ablation for the treatment of biopsy-proven malignant cystic renal masses.

    Felker, Ely R / Lee-Felker, Stephanie A / Alpern, Lousine / Lu, David / Raman, Steven S

    AJR. American journal of roentgenology

    2013  Volume 201, Issue 5, Page(s) 1029–1035

    Abstract: Objective: The purpose of this study was to determine the efficacy of imaging-guided percutaneous radiofrequency ablation (RFA) for the treatment of Bosniak category III and IV cystic renal lesions.: Materials and methods: Our database was searched ... ...

    Abstract Objective: The purpose of this study was to determine the efficacy of imaging-guided percutaneous radiofrequency ablation (RFA) for the treatment of Bosniak category III and IV cystic renal lesions.
    Materials and methods: Our database was searched to assemble a cohort of biopsy-proven malignant Bosniak category III and IV cystic renal lesions that were treated with imaging-guided percutaneous RFA from 2004 to 2012. The clinical history, imaging features, procedural complications, pathologic results, imaging follow-up, and clinical outcomes of each case were reviewed.
    Results: A total of 16 patients and 23 biopsy-proven malignant cystic renal lesions were included; two patients with von Hippel-Lindau syndrome had four and three treated lesions each, and a patient with multiple renal tumors had three treated lesions. The other 13 patients each had a single lesion. Clinical follow-up ranged from 2 to 110 months (average, 24 months). The primary treatment efficacy of RFA was 91% (21/23 lesions), and the secondary treatment efficacy was 96% (22/23 lesions). A minority of patients experienced partial loss of renal function. There were no complications related to bleeding or tumor seeding.
    Conclusion: Imaging-guided percutaneous RFA is safe and effective for the treatment of Bosniak category III and IV cystic renal lesions.
    MeSH term(s) Aged ; Aged, 80 and over ; Biopsy ; Catheter Ablation/methods ; Contrast Media ; Female ; Humans ; Iohexol ; Kidney Diseases, Cystic/diagnostic imaging ; Kidney Diseases, Cystic/pathology ; Kidney Diseases, Cystic/surgery ; Kidney Neoplasms/diagnostic imaging ; Kidney Neoplasms/pathology ; Kidney Neoplasms/surgery ; Magnetic Resonance Imaging, Interventional ; Male ; Middle Aged ; Radiography, Interventional ; Retrospective Studies ; Tomography, X-Ray Computed
    Chemical Substances Contrast Media ; Iohexol (4419T9MX03)
    Keywords covid19
    Language English
    Publishing date 2013-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 82076-3
    ISSN 1546-3141 ; 0361-803X ; 0092-5381
    ISSN (online) 1546-3141
    ISSN 0361-803X ; 0092-5381
    DOI 10.2214/AJR.12.10210
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Accuracy of whole-body HDP SPECT/CT, FDG PET/CT, and their combination for detecting bone metastases in breast cancer: an intra-personal comparison.

    Rager, Olivier / Lee-Felker, Stephanie A / Tabouret-Viaud, Claire / Felker, Ely R / Poncet, Antoine / Amzalag, Gaël / Garibotto, Valentina / Zaidi, Habib / Walter, Martin A

    American journal of nuclear medicine and molecular imaging

    2018  Volume 8, Issue 3, Page(s) 159–168

    Abstract: New generation SPECT/CT scanners allow rapid whole-body imaging, and potentially facilitate significantly improved diagnostic accuracy. Thus, the aim of this study was to compare the diagnostic accuracy of whole-body Tc-99m-HDP SPECT/CT, F-18-FDG PET/CT, ...

    Abstract New generation SPECT/CT scanners allow rapid whole-body imaging, and potentially facilitate significantly improved diagnostic accuracy. Thus, the aim of this study was to compare the diagnostic accuracy of whole-body Tc-99m-HDP SPECT/CT, F-18-FDG PET/CT, and their combination for detecting bone metastases in breast cancer. Women with biopsy-proven breast cancer that were referred for whole-body SPECT/CT and FDG PET/CT were consecutively included in this retrospective study. Two blinded readers independently interpreted all scans. In a per-patient analysis, the diagnostic performances of whole-body SPECT/CT, FDG PET/CT, and their combination were compared using
    Language English
    Publishing date 2018-06-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2623515-8
    ISSN 2160-8407
    ISSN 2160-8407
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Intraductal Cooling via a Nasobiliary Tube During Radiofrequency Ablation of Central Liver Tumors Reduces Biliary Injuries.

    Felker, Ely R / Lee-Felker, Stephanie A / Ajwichai, Khobkhoon / Tan, Nelly / Lu, David S / Durazo, Francisco A / Raman, Steven S

    AJR. American journal of roentgenology

    2015  Volume 204, Issue 6, Page(s) 1329–1335

    Abstract: Objective: The objective of our study was to determine the safety and efficacy of intraductal perfusion of chilled 5% dextrose in water (D5W) via an endoscopic nasobiliary tube (NBT) for the prevention of thermal bile duct injury in patients undergoing ... ...

    Abstract Objective: The objective of our study was to determine the safety and efficacy of intraductal perfusion of chilled 5% dextrose in water (D5W) via an endoscopic nasobiliary tube (NBT) for the prevention of thermal bile duct injury in patients undergoing percutaneous radiofrequency ablation (RFA) of central liver tumors.
    Materials and methods: We performed a retrospective study comparing outcomes of 32 consecutive patients who underwent percutaneous RFA of central liver tumors without intraductal perfusion of chilled D5W (control cohort) and 14 consecutive patients who underwent temporary intraductal perfusion of chilled D5W at 2 mL/s via endoscopic NBT placement before RFA (endoscopic NBT cohort). The primary and secondary outcomes were the rate of biliary complications and local tumor progression, respectively.
    Results: All patients tolerated the procedures well. There was a significantly lower rate of biliary complications in the endoscopic NBT cohort (0/14 patients, 0%) than in the control cohort (10/32 patients, 31%) (p < 0.03) with a trend toward improved preservation of liver function in the endoscopic NBT cohort (12/14 patients, 86%) compared with the control cohort (20/32 patients, 62%) (p = 0.05). There was no difference in the rate of local tumor progression between the endoscopic NBT cohort (4/19 tumors, 21%) and the control cohort (9/39 tumors, 23%) (p = 1.0).
    Conclusion: Perfusion of chilled water through an endoscopic NBT helps prevent thermal biliary injury during RFA of central liver tumors without increasing rates of local tumor progression.
    MeSH term(s) Aged ; Biliary Tract/injuries ; Burns, Electric/etiology ; Burns, Electric/prevention & control ; Catheter Ablation/adverse effects ; Catheter Ablation/instrumentation ; Catheter Ablation/methods ; Endoscopes ; Equipment Design ; Equipment Failure Analysis ; Female ; Humans ; Hypothermia, Induced/instrumentation ; Hypothermia, Induced/methods ; Liver Neoplasms/complications ; Liver Neoplasms/surgery ; Male ; Retrospective Studies ; Treatment Outcome
    Language English
    Publishing date 2015-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 82076-3
    ISSN 1546-3141 ; 0361-803X ; 0092-5381
    ISSN (online) 1546-3141
    ISSN 0361-803X ; 0092-5381
    DOI 10.2214/AJR.14.13788
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Use of MDCT to Differentiate Autoimmune Pancreatitis From Ductal Adenocarcinoma and Interstitial Pancreatitis.

    Lee-Felker, Stephanie A / Felker, Ely R / Kadell, Barbara / Farrell, James / Raman, Steven S / Sayre, James / Lu, David S

    AJR. American journal of roentgenology

    2015  Volume 205, Issue 1, Page(s) 2–9

    Abstract: Objective: The purposes of this study were to identify the most common imaging features of autoimmune pancreatitis and to evaluate the utility of MDCT for differentiating autoimmune pancreatitis from two more frequently encountered differential ... ...

    Abstract Objective: The purposes of this study were to identify the most common imaging features of autoimmune pancreatitis and to evaluate the utility of MDCT for differentiating autoimmune pancreatitis from two more frequently encountered differential diagnoses--pancreatic ductal adenocarcinoma and acute interstitial pancreatitis.
    Materials and methods: Dual-phase contrast-enhanced MDCT images of 91 patients (39 with autoimmune pancreatitis, 25 with pancreatic ductal adenocarcinoma, 27 with acute interstitial pancreatitis) were evaluated by two radiologists in consensus for distribution of pancreatic abnormality, sausage shape, low-attenuation halo, pancreatic duct dilatation, peripancreatic stranding, lymphadenopathy, biliary abnormality, vascular involvement, and renal lesions. Chi-square tests, multiple logistic regression analysis, and ROC analysis were performed.
    Results: The most common imaging features of autoimmune pancreatitis were sausage shape (25/39 [64%]) and low-attenuation halo (23/39 [59%]). Pancreatic duct dilatation (20/25 [80%]) and biliary dilatation (11/25 [44%]) were most frequent in pancreatic ductal adenocarcinoma. Peripancreatic stranding (22/27 [81%]) was most frequent in acute interstitial pancreatitis. Sausage shape, low-attenuation halo, and absence of a pancreatic duct or biliary dilatation differentiated autoimmune pancreatitis from pancreatic ductal adenocarcinoma with an accuracy of 0.88. Sausage shape and absence of peripancreatic stranding differentiated autoimmune pancreatitis from acute interstitial pancreatitis with an accuracy of 0.82. There was no significant difference in the frequency of vascular involvement or of lymphadenopathy among these diagnoses.
    Conclusion: Typical cases of autoimmune pancreatitis can be accurately differentiated from pancreatic ductal adenocarcinoma and acute interstitial pancreatitis on the basis of characteristic MDCT features. However, autoimmune pancreatitis should be considered in the presence of atypical features.
    MeSH term(s) Acute Disease ; Adenocarcinoma/diagnostic imaging ; Adult ; Aged ; Autoimmune Diseases/diagnostic imaging ; Carcinoma, Pancreatic Ductal/diagnostic imaging ; Contrast Media ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Multidetector Computed Tomography/methods ; Pancreatic Neoplasms/diagnostic imaging ; Pancreatitis/diagnostic imaging ; Retrospective Studies
    Chemical Substances Contrast Media
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 82076-3
    ISSN 1546-3141 ; 0361-803X ; 0092-5381
    ISSN (online) 1546-3141
    ISSN 0361-803X ; 0092-5381
    DOI 10.2214/AJR.14.14059
    Database MEDical Literature Analysis and Retrieval System OnLINE

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