Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.

Assessing the pathogenicity of a disease-associated genetic variant in animals accurately is vital, both on a population and individual scale. At the population level, breeding decisions based on invalid DNA tests can lead to the incorrect inclusion or exclusion of animals and compromise the long-term health of a population, and at the level of the individual animal, lead to incorrect treatment and even life-ending decisions. Criteria to determine pathogenicity are not standardized, i.

Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

[This corrects the article DOI: 10.3389/fvets.2024.

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Introduction: The correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification.

MRI of the Lactating Breast.

The breasts undergo marked physiologic changes during lactation that can make conventional imaging evaluation with mammography and US challenging. MRI can be a valuable diagnostic aid to differentiate physiologic and benign processes from malignancy in patients who are lactating. In addition, MRI may allow more accurate delineation of disease involvement than does conventional imaging and assists in locoregional staging, screening of the contralateral breast, assessment of response to neoadjuvant chemotherapy, and surgical planning.

Prevalent vs Incident Screen: Why Does It Matter?

There are important differences in the performance and outcomes of breast cancer screening in the prevalent compared to the incident screening rounds. The prevalent screen is the first screening examination using a particular imaging technique and identifies pre-existing, undiagnosed cancers in the population. The incident screen is any subsequent screening examination using that technique.

The role of digital mammographic surveillance for detection of asymptomatic recurrence in autologous flap reconstructions.

Objective: To evaluate the utility of digital mammography in detecting asymptomatic malignancy in autologous flap reconstructions after mastectomy.

Methods: A retrospective database review identified all mammograms performed on asymptomatic patients with flap reconstructions over a 9-year period (1/1/2009 to 12/31/2017). A negative examination was defined as BI-RADS 1 or 2 and a positive examination was defined as BI-RADS 0, 4, or 5 assigned to the mastectomy side.

ACR Appropriateness Criteria® Monitoring Response to Neoadjuvant Systemic Therapy for Breast Cancer: 2022 Update.

Imaging plays a vital role in managing patients undergoing neoadjuvant chemotherapy, as treatment decisions rely heavily on accurate assessment of response to therapy. This document provides evidence-based guidelines for imaging breast cancer before, during, and after initiation of neoadjuvant chemotherapy. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel.

Common Orthopedic Traits and Screening for Breeding Programs.

Orthopedic diseases are complex traits, meaning genetics and environmental factors affect risk, making identification of genetic associations difficult. In the United States, hip and elbow scores, patellar luxation scores, Legg-Calvé-Perthes disease, and shoulder osteochondrosis affectedness are available in the Orthopedic Foundation for Animals registry. Distraction indices and extended, ventrodorsal hip conformation scores are recorded by PennHIP.

Updates in Transgender Breast Imaging.

Transgender patients are seen in breast imaging centers for routine screening mammography and diagnostic imaging of the symptomatic breast. This comprehensive review of transgender breast imaging aims to update the radiologist on appropriate terminology, breast cancer risk in different patient populations, screening guidelines, and diagnostic scenarios. The chapter concludes with practical tips on how to optimize the patient experience.

ACR Appropriateness Criteria® Evaluation of Nipple Discharge: 2022 Update.

The type of nipple discharge dictates the appropriate imaging study. Physiologic nipple discharge is common and does not require diagnostic imaging. Pathologic nipple discharge in women, men, and transgender patients necessitates breast imaging.

Deep Learning to Simulate Contrast-enhanced Breast MRI of Invasive Breast Cancer.

Background There is increasing interest in noncontrast breast MRI alternatives for tumor visualization to increase the accessibility of breast MRI. Purpose To evaluate the feasibility and accuracy of generating simulated contrast-enhanced T1-weighted breast MRI scans from precontrast MRI sequences in biopsy-proven invasive breast cancer with use of deep learning. Materials and Methods Women with invasive breast cancer and a contrast-enhanced breast MRI examination that was performed for initial evaluation of the extent of disease between January 2015 and December 2019 at a single academic institution were retrospectively identified.

Complex Feline Disease Mapping Using a Dense Genotyping Array.

The current feline genotyping array of 63 k single nucleotide polymorphisms has proven its utility for mapping within breeds, and its use has led to the identification of variants associated with Mendelian traits in purebred cats. However, compared to single gene disorders, association studies of complex diseases, especially with the inclusion of random bred cats with relatively low linkage disequilibrium, require a denser genotyping array and an increased sample size to provide statistically significant associations. Here, we undertook a multi-breed study of 1,122 cats, most of which were admitted and phenotyped for nine common complex feline diseases at the Cornell University Hospital for Animals.

The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a common and potentially fatal heart disease in many cat breeds. An intronic variant in TNNT2, c.95-108G>A, was recently reported as the cause of HCM in the Maine Coon.

ACR Appropriateness Criteria® Imaging of the Axilla.

This publication reviews the current evidence supporting the imaging approach of the axilla in various scenarios with broad differential diagnosis ranging from inflammatory to malignant etiologies. Controversies on the management of axillary adenopathy results in disagreement on the appropriate axillary imaging tests. Ultrasound is often the appropriate initial imaging test in several clinical scenarios.

Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek.

Non-inflammatory alopecia is a frequent skin problem in dogs, causing damaged coat integrity and compromised appearance of affected individuals. In this study, we examined the Cesky Fousek breed, which displays atypical recurrent flank alopecia (aRFA) at a high frequency. This type of alopecia can be quite severe and is characterized by seasonal episodes of well demarcated alopecic areas without hyperpigmentation.

ACR Appropriateness Criteria® Supplemental Breast Cancer Screening Based on Breast Density.

Mammography remains the only validated screening tool for breast cancer, however, there are limitations to mammography. One of the limitations of mammography is the variable sensitivity based on breast density. Supplemental screening may be considered based on the patient's risk level and breast density.

Genomic Prediction of Two Complex Orthopedic Traits Across Multiple Pure and Mixed Breed Dogs.

Canine hip dysplasia (CHD) and rupture of the cranial cruciate ligament (RCCL) are two complex inherited orthopedic traits of dogs. These two traits may occur concurrently in the same dog. Genomic prediction of these two diseases would benefit veterinary medicine, the dog's owner, and dog breeders because of their high prevalence, and because both traits result in painful debilitating osteoarthritis in affected joints.

The Value of Targeted Ultrasound for the Primary Evaluation of Breast Symptoms in Pregnant Women of All Ages.

Objective: Data on breast imaging in symptomatic pregnant women are limited. Our aim was to assess the value of targeted breast US for the primary evaluation of breast symptoms in pregnant women of all ages.

Methods: This IRB-approved retrospective study included all pregnant patients who underwent targeted US for focal breast symptoms at an academic imaging facility over an 18-year period (2000-2018).