Diagnostic algorithm for gastrointestinal stromal tumor (GIST) using patient registry data impacts pathology guidelines.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e23519-e23519
Author(s):  
Sara Rothschild ◽  
Jerry Call ◽  
Christopher L. Corless ◽  
Anthony Gill ◽  
Markku Miettinen ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Large Scale ◽  
Genetic Counselor ◽  
Diagnostic Algorithm ◽  
Diagnostic Procedures ◽  
Patient Registry ◽  
Response To Treatment ◽  
Pathology Report ◽  
Medical Opinion

e23519 Background: The Life Raft Group (LRG) identified that succinate dehydrogenase (SDH) deficient GISTs are under-recognized. In the LRG Registry only 30% of KIT/PDGFRA wildtype patients had received the advanced mutational testing (or SDHB staining) required to identify this unique subtype of GIST with a different natural history and response to treatment, and very strong familial associations. We proposed that two changes would significantly increase the diagnosis of SDH-deficient GIST patients: 1. SDHB staining for all GIST patients with a stomach primary tumor at initial biopsy, 2. Initial pathology report should contain strong recommendations for specific mutational testing. Methods: The LRG collaborated with key medical opinion leaders on a diagnostic algorithm that illustrated the need for wider use of targeted diagnostic procedures and submitted the algorithm to the College of American Pathologists (CAP) GIST editorial board. Results: Because SDH-deficient GISTs require germline genetic analysis and, if mutation related, subsequent surveillance for paragangliomas/pheochromocytomas, and cascade genetic testing for family members, it is necessary to screen all gastric GISTs for loss of SDH by immunohistochemistry. This is best accomplished by immunohistochemical staining for SDHB, which is lost in all genetic subtypes of SDH-deficient GISTs. If SDHB is absent, additional staining for SDHA may be performed, as this protein is selectively lost in SDHA-mutant GISTs and this may help focus genetic analysis. All patients with SDH-deficient GIST should be referred to a genetic counselor. The CAP incorporated both SDHB and SDHA testing paradigms into the updated GIST protocols which were published in August 2019. Conclusions: We believe this will result in significantly better diagnosis and treatment for SDH-deficient GIST patients. We encourage other groups that advise on guidelines to develop similar recommendations. This is a great example of a patient advocacy group utilizing real world evidence derived from a patient registry to influence protocols for treatments that affect GIST patients on a large scale.

Impact of COVID-19 on Nuclear Medicine in Germany, Austria and Switzerland: An International Survey in April 2020

2020 ◽  
Vol 59 (04) ◽  
pp. 294-299 ◽  
Author(s):  
Lutz S. Freudenberg ◽  
Ulf Dittmer ◽  
Ken Herrmann
Keyword(s):  
Nuclear Medicine ◽  
Health Systems ◽  
Personal Protective Equipment ◽  
Large Scale ◽  
Diagnostic Procedures ◽  
Protective Equipment ◽  
Current Crisis ◽  
Web Based ◽  
Public Versus Private ◽  
The Impact

Abstract Introduction Preparations of health systems to accommodate large number of severely ill COVID-19 patients in March/April 2020 has a significant impact on nuclear medicine departments. Materials and Methods A web-based questionnaire was designed to differentiate the impact of the pandemic on inpatient and outpatient nuclear medicine operations and on public versus private health systems, respectively. Questions were addressing the following issues: impact on nuclear medicine diagnostics and therapy, use of recommendations, personal protective equipment, and organizational adaptations. The survey was available for 6 days and closed on April 20, 2020. Results 113 complete responses were recorded. Nearly all participants (97 %) report a decline of nuclear medicine diagnostic procedures. The mean reduction in the last three weeks for PET/CT, scintigraphies of bone, myocardium, lung thyroid, sentinel lymph-node are –14.4 %, –47.2 %, –47.5 %, –40.7 %, –58.4 %, and –25.2 % respectively. Furthermore, 76 % of the participants report a reduction in therapies especially for benign thyroid disease (-41.8 %) and radiosynoviorthesis (–53.8 %) while tumor therapies remained mainly stable. 48 % of the participants report a shortage of personal protective equipment. Conclusions Nuclear medicine services are notably reduced 3 weeks after the SARS-CoV-2 pandemic reached Germany, Austria and Switzerland on a large scale. We must be aware that the current crisis will also have a significant economic impact on the healthcare system. As the survey cannot adapt to daily dynamic changes in priorities, it serves as a first snapshot requiring follow-up studies and comparisons with other countries and regions.

scholarly journals A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis

2018 ◽  
Vol 142 (5) ◽  
pp. 1662-1665 ◽  
Author(s):  
Davide Martorana ◽  
Ana Márquez ◽  
F. David Carmona ◽  
Francesco Bonatti ◽  
Alessia Adorni ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Large Scale ◽  
Retroperitoneal Fibrosis ◽  
Idiopathic Retroperitoneal Fibrosis

Posterior Glottic Insufficiency in Children

2017 ◽  
Vol 126 (4) ◽  
pp. 268-273 ◽  
Author(s):  
Reema Padia ◽  
Marshall E. Smith
Keyword(s):  
Chart Review ◽  
Diagnostic Procedures ◽  
Response To Treatment ◽  
Anatomical Location ◽  
Injection Laryngoplasty ◽  
Glottic Insufficiency ◽  
Institutional Review ◽  
Vocal Fold Injection ◽  
Impairment Ratings ◽  
Posterior Glottis

Background: Dysphonia secondary to posterior glottic insufficiency (PGI) can be difficult to identify and correct. Inadequate arytenoid approximation from medial arytenoid erosion results in a breathy, soft voice. The anatomical location of the gap is difficult to correct by vocal fold injection laryngoplasty. This study reviews the presentation, evaluation, and treatment for pediatric patients who were identified with PGI. Methods: An Institutional Review Board–approved chart review was performed on all patients who were diagnosed with PGI at our institution from 2013 to 2015. We studied the presentation, workup, and treatment for these patients, including laryngoscopy, parent or patient-based voice impairment ratings, and response to treatment. Results: Seven patients were identified. Erosion of the medial arytenoid was identified on microlaryngoscopy for all of these patients. The patients had suboptimal improvement from injection laryngoplasty. Three patients underwent surgical correction with an endoscopic posterior cricoid reduction laryngoplasty (EPCRL) with significant improvement in voice, assessed by perceptual, laryngoscopic, and patient-based measures. Conclusion: The key diagnostic procedures to identify posterior glottic insufficiency include laryngoscopic findings of a posterior glottal gap, microlaryngoscopy with close inspection of the posterior glottis and medial arytenoids, and suboptimal response to injection laryngoplasty. The EPCRL is an effective procedure to treat dysphonia from PGI.

Biomarkers for mitochondrial energy metabolism diseases

2018 ◽  
Vol 62 (3) ◽  
pp. 443-454 ◽  
Author(s):  
Sara Boenzi ◽  
Daria Diodato
Keyword(s):  
Diagnostic Algorithm ◽  
Mitochondrial Respiratory Chain ◽  
Response To Treatment ◽  
Fibroblast Growth Factor 21 ◽  
Disease Group ◽  
Diagnostic Challenge ◽  
Mitochondrial Energy Metabolism ◽  
Lactate And Pyruvate ◽  
Urine Organic Acids

Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a ‘biosignature’ for the diagnosis, rather than a single biochemical marker. Serum biomarkers like lactate and pyruvate are largely determined in the diagnostic algorithm of MD, but they are not specific to this group of disorders. The concomitant determination of creatine (Cr), plasma amino acids, and urine organic acids might be helpful to reinforce the biosignature in some cases. In recent studies, serum fibroblast growth factor 21 (sFGF21) and serum growth differentiation factor 15 (sGDF15) appear to be promising molecules in identifying MD. Moreover, new different approaches have been developed to discover new MD biomarkers. This work discusses the most important biomarkers currently used in the diagnosis of MRC diseases, and some approaches under evaluation, discussing both their utility and weaknesses.

scholarly journals Evaluation of the national surveillance of Legionnaires’ disease in Norway, 2008-2017

2019 ◽  
Author(s):  
Cecilia Wolff ◽  
Heidi Lange ◽  
Siri Feruglio ◽  
Line Vold ◽  
Emily MacDonald
Keyword(s):  
Internal Validity ◽  
Diagnostic Procedures ◽  
Patient Registry ◽  
Testing Procedures ◽  
A Value ◽  
Health Authorities ◽  
Public Health Authorities ◽  
Key Variables ◽  
Legionnaires Disease ◽  
Norwegian Patient

Abstract Background In Norway, Legionnaires’ disease is reportable upon clinical suspicion to public health authorities and mandatorily notifiable through the Norwegian surveillance system for communicable diseases (MSIS) for both clinicians and laboratories. In the summer of 2017, several European countries reported high notification rates for Legionnaires’ disease, which was not observed in Norway. We evaluated MSIS to assess if it meets its objectives of detecting cases and trends in incidence of Legionnaires’ disease.Methods We retrieved MSIS data from 2008 to 2017 and calculated timeliness as days from sampling to notification, and internal completeness for key variables as the proportion of observations with a value. Where possible, we assessed internal validity on the presence of a plausible value. To estimate external completeness and validity we linked MSIS with hospital reimbursement claims in the Norwegian Patient Registry. To assess acceptability and representativeness, we surveyed doctors in 39 hospitals on their units’ diagnostic and notification procedures, and their use of MSIS.Results There were 438 notified cases. Internal completeness and internal validity were high for key variables (≥95%). The median delay from sampling to notification was 4 days. There were 73 patients in MSIS only, 70 in the Norwegian Patient Registry only, and 351 in both registers. The external completeness of MSIS was 83% (95% CI 80-86%). For external validity, the positive predictive value of MSIS was 83% (95% CI 79-86%). Forty-seven respondents from 28 hospitals described testing procedures. These were inconsistent: 29 (62%) reported no systematic application of criteria for requesting legionella testing. Eighteen (38%) reported testing all patients with suspected pneumonia and a travel history. Thirty-one (66%) found the notification criteria clear.Conclusions Our results suggest that the surveillance in MSIS can detect incidence changes for Legionnaires’ disease over time, by place and person, but likely does not detect every case diagnosed in Norway. We recommend wider investigation of diagnostic procedures in order to improve representativeness and awareness of MSIS notification criteria among clinicians in order to improve acceptability of the surveillance. We also recommend a more comprehensive assessment of whether patients only registered in the Norwegian Patient Registry were true Legionnaires’ disease cases.

scholarly journals DIAGNOSIS OF VENOUS ISCHEMIC STROKE. PART II (ALGORITHMS AND SEMIOLOGY OF DIAGNOSTIC RADIOLOGY. LIMITATIONS IN CLINICAL PRACTICE). A REVIEW

2019 ◽  
Vol 8 (3) ◽  
pp. 104-115
Author(s):  
S. E. Semenov ◽  
E. A. Yurkevich ◽  
I. V. Moldavskaia ◽  
M. G. Shatokhina ◽  
A. S. Semenov
Keyword(s):  
Ischemic Stroke ◽  
Transcranial Doppler ◽  
Sinus Thrombosis ◽  
Pathological Condition ◽  
Diagnostic Algorithm ◽  
Diagnostic Procedures ◽  
Cerebral Venous Sinus Thrombosis ◽  
Standards Of Care ◽  
Unstable Process ◽  
Venous Stroke

Venous stroke in cerebral venous sinus thrombosis is a rare pathological condition with uncertain diagnostic algorithm to ensure prompt treatment by neurologists and radiologists. All the methods are not obligatory in the workup of acute stroke, except computed tomography (CT) and transcranial Doppler. Researchers and clinicians are commonly guided by their own experiences. Therefore, the diagnosis of venous stroke is an unstable process resulting in its underestimation in the general stroke population. The optimal use of neuroimaging methods within the existing standards of care for patients with stroke, determination of the necessary and sufficient set of diagnostic procedures is an organizational and methodical problem. In addition, there is no complete description of venous ischemic stroke patterns in the medical literature. The article reviews existing evidence-based data on the diagnostic algorithms for venous stroke and discusses the probability of detecting radiologic symptoms based on the diagnostic accuracy and effectiveness of such methods as conventional CT and magnetic resonance imaging (MRI), CT and MR angiography, CT and MR perfusion, transcranial Doppler (TCD) and ultrasound of the brachiocephalic arteries stated in the national and international guidelines, as well as our own experience. Limitations of their use and options to overcome major drawbacks including the introduction of teleradiology are considered.

scholarly journals SINE jumping contributes to large-scale polymorphisms in the pig genomes

2021 ◽  
Author(s):  
Cai Chen ◽  
Enrico D'Alessandro ◽  
Eduard Murani ◽  
Yao Zheng ◽  
Domenico Giosa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Population Genetic ◽  
Large Scale ◽  
Structural Variations ◽  
Population Genetic Analysis ◽  
Protein Coding ◽  
Pig Breeds ◽  
A Genome ◽  
Trait Locus ◽  
And Cluster Analysis

Abstract Background: Molecular markers based on retrotransposon insertion polymorphisms (RIPs) have been developed and are widely used in plants and animals. Short interspersed nuclear elements (SINEs) exert wide impacts on gene activity and even on phenotypes. However, SINE RIP profiles in livestock remain largely unknown, and not be revealed in pigs. Results: Our data revealed that SINEA1 displayed the most polymorphic insertions (22.5% intragenic and 26.5% intergenic), followed by SINEA2 (10.5% intragenic and 9% intergenic) and SINEA3 (12.5% intragenic and 5.0% intergenic). We developed a genome-wide SINE RIP mining protocol and obtained a large number of SINE RIPs (36,284), with over 80% accuracy and an even distribution in chromosomes (14.5/Mb), and 74.34% of SINE RIPs generated by SINEA1 element. Over 65% of pig SINE RIPs overlap with genes, with significant enrichment in the first and second introns of protein-coding and long non-coding RNA genes. Nearly half of the RIPs are common in these pig breeds. Sixteen SINE RIPs were applied for population genetic analysis in 23 pig breeds, the phylogeny tree and cluster analysis were generally consistent with the geographical distributions of native pig breeds in China. Conclusions: Our analysis revealed that SINEA1–3 elements, particularly SINEA1, are high polymorphic across different pig breeds, and generate large-scale structural variations in the pig genomes. And over 35, 000 SINE RIP markers were obtained. These data indicate that young SINE elements play important roles in creating new genetic variations and shaping the evolution of pig genome, and also provide strong evidences to support the great potential of SINE RIPs as genetic markers, which can be used for population genetic analysis and quantitative trait locus (QTL) mapping in pig.

scholarly journals Magnetic resonance imaging of the cirrhotic liver: diagnosis of hepatocellular carcinoma and evaluation of response to treatment – Part 2

2017 ◽  
Vol 50 (2) ◽  
pp. 115-125 ◽  
Author(s):  
Miguel Ramalho ◽  
António P. Matos ◽  
Mamdoh AlObaidy ◽  
Fernanda Velloni ◽  
Ersan Altun ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Hepatocellular Carcinoma ◽  
Magnetic Resonance ◽  
Diagnostic Algorithm ◽  
Response To Treatment ◽  
Locoregional Therapy ◽  
Liver Imaging ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri

Abstract In the second part of this review, we will describe the ancillary imaging features of hepatocellular carcinoma (HCC) that can be seen on standard magnetic resonance imaging (MRI) protocol, and on novel and emerging protocols such as diffusion weighted imaging and utilization of hepatocyte-specific/hepatobiliary contrast agent. We will also describe the morphologic sub-types of HCC, and give a simplified non-invasive diagnostic algorithm for HCC, followed by a brief description of the liver imaging reporting and data system (LI-RADS), and MRI assessment of tumor response following locoregional therapy.

scholarly journals A Large Scale Genetic Analysis of c-Myc-regulated Gene Expression Patterns

2003 ◽  
Vol 278 (14) ◽  
pp. 12563-12573 ◽  
Author(s):  
Brenda C. O'Connell ◽  
Ann F. Cheung ◽  
Carl P. Simkevich ◽  
Wanny Tam ◽  
Xiaojia Ren ◽  
...  
Keyword(s):  
Gene Expression ◽  
Genetic Analysis ◽  
Large Scale ◽  
Expression Patterns ◽  
Gene Expression Patterns ◽  
Regulated Gene Expression

RNA interference in Caenorhabditis elegans: Uptake, mechanism, and regulation

Parasitology ◽  
2011 ◽  
Vol 139 (5) ◽  
pp. 560-573 ◽  
Author(s):  
JIMMY J. ZHUANG ◽  
CRAIG P. HUNTER
Keyword(s):  
Rna Interference ◽  
Genetic Analysis ◽  
Large Scale ◽  
Parasitic Nematodes ◽  
Loss Of Function ◽  
Uptake Mechanism ◽  
Delivery Methods ◽  
C Elegans ◽  
Systemic Rnai ◽  
Powerful Research Tool

SUMMARYRNA interference (RNAi) is a powerful research tool that has enabled molecular insights into gene activity, pathway analysis, partial loss-of-function phenotypes, and large-scale genomic discovery of gene function. While RNAi works extremely well in the non-parasitic nematode C. elegans, it is also especially useful in organisms that lack facile genetic analysis. Extensive genetic analysis of the mechanisms, delivery and regulation of RNAi in C. elegans has provided mechanistic and phenomenological insights into why RNAi is so effective in this species. These insights are useful for the testing and development of RNAi in other nematodes, including parasitic nematodes where more effective RNAi would be extremely useful. Here, we review the current advances in C. elegans for RNA delivery methods, regulation of cell autonomous and systemic RNAi phenomena, and implications of enhanced RNAi mutants. These discussions, with a focus on mechanism and cross-species application, provide new perspectives for optimizing RNAi in other species.

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