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American Journal of Human Genetics Dec 2022Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants...
Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as "supporting" level of evidence for pathogenicity or benignity using criteria PP3 and BP4, respectively. However, score intervals defined by tool developers, and ACMG/AMP recommendations that require the consensus of multiple predictors, lack quantitative support. Previously, we described a probabilistic framework that quantified the strengths of evidence (supporting, moderate, strong, very strong) within ACMG/AMP recommendations. We have extended this framework to computational predictors and introduce a new standard that converts a tool's scores to PP3 and BP4 evidence strengths. Our approach is based on estimating the local positive predictive value and can calibrate any computational tool or other continuous-scale evidence on any variant type. We estimate thresholds (score intervals) corresponding to each strength of evidence for pathogenicity and benignity for thirteen missense variant interpretation tools, using carefully assembled independent data sets. Most tools achieved supporting evidence level for both pathogenic and benign classification using newly established thresholds. Multiple tools reached score thresholds justifying moderate and several reached strong evidence levels. One tool reached very strong evidence level for benign classification on some variants. Based on these findings, we provide recommendations for evidence-based revisions of the PP3 and BP4 ACMG/AMP criteria using individual tools and future assessment of computational methods for clinical interpretation.
Topics: Humans; Calibration; Consensus; Educational Status; Virulence
PubMed: 36413997
DOI: 10.1016/j.ajhg.2022.10.013 -
Revista de Neurologia Feb 2022Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that... (Review)
Review
INTRODUCTION
Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach.
DEVELOPMENT
Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis.
CONCLUSION
Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.
Topics: Humans; Infant; Infant, Newborn; Movement Disorders; Remission, Spontaneous
PubMed: 35148422
DOI: 10.33588/rn.7404.2021326 -
Archives of Pathology & Laboratory... Nov 2017- Basal cell carcinoma (BCC) is the most common human malignant neoplasm and is a frequently encountered diagnosis in dermatopathology. Although BCC may be locally... (Review)
Review
CONTEXT
- Basal cell carcinoma (BCC) is the most common human malignant neoplasm and is a frequently encountered diagnosis in dermatopathology. Although BCC may be locally destructive, it rarely metastasizes. Many diagnostic entities display morphologic and immunophenotypic overlap with BCC, including nonneoplastic processes, such as follicular induction over dermatofibroma; benign follicular tumors, such as trichoblastoma, trichoepithelioma, or basaloid follicular hamartoma; and malignant tumors, such as sebaceous carcinoma or Merkel cell carcinoma. Thus, misdiagnosis has significant potential to result in overtreatment or undertreatment.
OBJECTIVE
- To review key features distinguishing BCC from histologic mimics, including current evidence regarding immunohistochemical markers useful for that distinction.
DATA SOURCES
- Review of pertinent literature on BCC immunohistochemistry and differential diagnosis.
CONCLUSIONS
- In most cases, BCC can be reliably diagnosed by histopathologic features. Immunohistochemistry may provide useful ancillary data in certain cases. Awareness of potential mimics is critical to avoid misdiagnosis and resulting inappropriate management.
Topics: Adenocarcinoma, Sebaceous; Biomarkers, Tumor; Carcinoma, Basal Cell; Diagnosis, Differential; Hamartoma; Histiocytoma, Benign Fibrous; Humans; Immunohistochemistry; Immunophenotyping; Skin; Skin Neoplasms
PubMed: 29072946
DOI: 10.5858/arpa.2017-0222-RA -
Clinical Interventions in Aging 2018Balance disorders, unsteadiness, dizziness and vertigo in the elderly are a significant health problem, needing appropriate treatment. One third of elderly patients with... (Review)
Review
Balance disorders, unsteadiness, dizziness and vertigo in the elderly are a significant health problem, needing appropriate treatment. One third of elderly patients with vertigo were diagnosed with benign paroxysmal positional vertigo (BPPV), the most common cause of dizziness in both primary care specialist Neurology and Ear Nose Throat settings. BPPV presents a specific paroxysmal positional nystagmus which can be obtained using the appropriate diagnostic positional test and can be treated effectively using specific therapeutic maneuvers. This review presents current insights into the diagnostic, pathogenetic and therapeutic aspects of BPPV in the elderly. BPPV in older patients does not differ significantly from BPPV in younger patients, with regard to pathogenesis, diagnosis and treatment. However, in older patients, its prevalence is higher and it responds less effectively to treatment, having a tendency for recurrence. Specific issues which should be considered in the elderly are: 1) difficulty in obtaining an accurate history; 2) difficulty in performing the diagnostic and therapeutic maneuvers, which should be executed with slow and gentle movements and extremely cautiously to avoid any vascular or orthopedic complications; and 3) the relation between BPPV and falls.
Topics: Accidental Falls; Benign Paroxysmal Positional Vertigo; Cross-Sectional Studies; Diagnosis, Differential; Humans; Nystagmus, Physiologic; Otolithic Membrane; Primary Health Care; Recurrence; Semicircular Canals
PubMed: 30464434
DOI: 10.2147/CIA.S144134 -
Therapeutische Umschau. Revue... Apr 2023
Topics: Humans; Male; Prostatic Hyperplasia
PubMed: 36975034
DOI: 10.1024/0040-5930/a001421 -
JAMA Network Open Jan 2020Approximately one-quarter of adnexal masses detected at ultrasonography are indeterminate for benignity or malignancy, posing a substantial clinical dilemma. (Comparative Study)
Comparative Study
IMPORTANCE
Approximately one-quarter of adnexal masses detected at ultrasonography are indeterminate for benignity or malignancy, posing a substantial clinical dilemma.
OBJECTIVE
To validate the accuracy of a 5-point Ovarian-Adnexal Reporting Data System Magnetic Resonance Imaging (O-RADS MRI) score for risk stratification of adnexal masses.
DESIGN, SETTING, AND PARTICIPANTS
This multicenter cohort study was conducted between March 1, 2013, and March 31, 2016. Among patients undergoing expectant management, 2-year follow-up data were completed by March 31, 2018. A routine pelvic MRI was performed among consecutive patients referred to characterize a sonographically indeterminate adnexal mass according to routine diagnostic practice at 15 referral centers. The MRI score was prospectively applied by 2 onsite readers and by 1 reader masked to clinical and ultrasonographic data. Data analysis was conducted between April and November 2018.
MAIN OUTCOMES AND MEASURES
The primary end point was the joint analysis of true-negative and false-negative rates according to the MRI score compared with the reference standard (ie, histology or 2-year follow-up).
RESULTS
A total of 1340 women (mean [range] age, 49 [18-96] years) were enrolled. Of 1194 evaluable women, 1130 (94.6%) had a pelvic mass on MRI with a reference standard (surgery, 768 [67.9%]; 2-year follow-up, 362 [32.1%]). A total of 203 patients (18.0%) had at least 1 malignant adnexal or nonadnexal pelvic mass. No invasive cancer was assigned a score of 2. Positive likelihood ratios were 0.01 for score 2, 0.27 for score 3, 4.42 for score 4, and 38.81 for score 5. Area under the receiver operating characteristic curve was 0.961 (95% CI, 0.948-0.971) among experienced readers, with a sensitivity of 0.93 (95% CI, 0.89-0.96; 189 of 203 patients) and a specificity of 0.91 (95% CI, 0.89-0.93; 848 of 927 patients). There was good interrater agreement among both experienced and junior readers (κ = 0.784; 95% CI, 0.743-0824). Of 580 of 1130 women (51.3%) with a mass on MRI and no specific gynecological symptoms, 362 (62.4%) underwent surgery. Of them, 244 (67.4%) had benign lesions and a score of 3 or less. The MRI score correctly reclassified the mass origin as nonadnexal with a sensitivity of 0.99 (95% CI, 0.98-0.99; 1360 of 1372 patients) and a specificity of 0.78 (95% CI, 0.71-0.85; 102 of 130 patients).
CONCLUSIONS AND RELEVANCE
In this study, the O-RADS MRI score was accurate when stratifying the risk of malignancy in adnexal masses.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cohort Studies; False Negative Reactions; False Positive Reactions; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Ovarian Diseases; Risk Assessment; Sensitivity and Specificity; Ultrasonography; Young Adult
PubMed: 31977064
DOI: 10.1001/jamanetworkopen.2019.19896 -
RoFo : Fortschritte Auf Dem Gebiete Der... Jun 2023The Liver Imaging Reporting and Data System (LI-RADS v2018) standardizes the interpretation and reporting of MDCT and MRI examinations in patients at risk for... (Review)
Review
PURPOSE
The Liver Imaging Reporting and Data System (LI-RADS v2018) standardizes the interpretation and reporting of MDCT and MRI examinations in patients at risk for hepatocellular carcinoma (HCC).
MATERIALS AND METHODS
For focal liver lesions (called "observations") it assigns categories (LR-1 to 5, LR-M, LR-TIV, LR-TR), which reflect the probability of benignity or malignancy (HCC or other non-HCC malignancies) of the respective observation. The categories assigned are based on major and ancillary image features, which have been developed by the American College of Radiology (ACR), revised several times (now v2018), and validated in many studies. The value of ancillary features to modify LI-RADS categories assigned to observations based on major features is shown.
RESULTS
This review summarizes the relevant CT and MRI features and presents a step-by-step approach for readers not familiar with LI-RADS on how to use the system. Relevant imaging features and the value of different modalities (contrast-enhanced CT, MRI with extracellular gadolinium chelates or liver-specific contrast agents) is explained.
CONCLUSION
The widespread adoption of LI-RADS for CT/MRI reporting in high-risk patients would help to reduce inter-reader variability. It could improve communication between radiologists, oncologists, hepatologists, pathologists, and liver surgeons, and lead to better patient management.
KEY POINTS
· LI-RADS has been developed and revised to address the need for improved diagnosis and standardized categorization of findings in chronic liver disease.. · CT/MRI LI-RADS consists of major criteria and ancillary features to classify observations.. · LI-RADS terminology helps to clarify the communication of liver observations between radiologists and referring physicians..
CITATION FORMAT
· Schima W, Kopf H, Eisenhuber E. LI-RADS made Easy. Fortschr Röntgenstr 2023; 195: 486 - 494.
Topics: Humans; Carcinoma, Hepatocellular; Liver Neoplasms; Retrospective Studies; Magnetic Resonance Imaging; Contrast Media; Sensitivity and Specificity
PubMed: 36724803
DOI: 10.1055/a-1990-5924 -
ACS Omega Dec 2022Envisage a world where discarded electrical/electronic devices and single-use consumables can dematerialize and lapse into the environment after the end-of-useful life... (Review)
Review
Envisage a world where discarded electrical/electronic devices and single-use consumables can dematerialize and lapse into the environment after the end-of-useful life without constituting health and environmental burdens. As available resources are consumed and human activities build up wastes, there is an urgency for the consolidation of efforts and strategies in meeting current materials needs while assuaging the concomitant negative impacts of conventional materials exploration, usage, and disposal. Hence, the emerging field of transient technology (Green Technology), rooted in eco-design and closing the material loop toward a friendlier and sustainable materials system, holds enormous possibilities for assuaging current challenges in materials usage and disposability. The core requirements for transient materials are anchored on meeting multicomponent functionality, low-cost production, simplicity in disposability, flexibility in materials fabrication and design, biodegradability, biocompatibility, and environmental benignity. In this regard, biorenewables such as cellulose-based materials have demonstrated capacity as promising platforms to fabricate scalable, renewable, greener, and efficient materials and devices such as membranes, sensors, display units (for example, OLEDs), and so on. This work critically reviews the recent progress of nanocellulosic materials in transient technologies toward mitigating current environmental challenges resulting from traditional material exploration, usage, and disposal. While spotlighting important fundamental properties and functions in the material selection toward practicability and identifying current difficulties, we propose crucial research directions in advancing transient technology and cellulose-based materials in closing the loop for conventional materials and sustainability.
PubMed: 36591168
DOI: 10.1021/acsomega.2c05848