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1.
Radiographics ; 44(2): e230129, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38300813

RESUMEN

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. Although the American College of Radiology recommends against patients undergoing contrast-enhanced MRI during pregnancy because of fetal safety concerns, contrast-enhanced MRI is safe during lactation. As more women delay childbearing, the incidence of pregnancy-associated breast cancer (PABC) and breast cancer in lactating women beyond the 1st year after pregnancy is increasing. Thus, MRI is increasingly being performed in lactating women for diagnostic evaluation and screening of patients at high risk. PABC is associated with a worse prognosis than that of non-PABCs, with delays in diagnosis contributing to an increased likelihood of advanced-stage disease at diagnosis. Familiarity with the MRI features of the lactating breast and the appearance of various pathologic conditions is essential to avoid diagnostic pitfalls and prevent delays in cancer diagnosis and treatment. The authors review clinical indications for breast MRI during lactation, describe characteristic features of the lactating breast at MRI, and compare MRI features of a spectrum of benign and malignant breast abnormalities. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material. See the invited commentary by Chikarmane in this issue.


Asunto(s)
Azidas , Neoplasias de la Mama , Lactancia , Propanolaminas , Embarazo , Femenino , Humanos , Mama/diagnóstico por imagen , Mama/patología , Neoplasias de la Mama/diagnóstico por imagen , Mamografía/métodos , Imagen por Resonancia Magnética/métodos
2.
Radiology ; 306(3): e213199, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36378030

RESUMEN

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. A three-dimensional, fully convolutional deep neural network simulated contrast-enhanced T1-weighted breast MRI scans from five precontrast sequences (T1-weighted non-fat-suppressed [FS], T1-weighted FS, T2-weighted FS, apparent diffusion coefficient, and diffusion-weighted imaging). For qualitative assessment, four breast radiologists (with 3-15 years of experience) blinded to whether the method of contrast was real or simulated assessed image quality (excellent, acceptable, good, poor, or unacceptable), presence of tumor enhancement, and maximum index mass size by using 22 pairs of real and simulated contrast-enhanced MRI scans. Quantitative comparison was performed using whole-breast similarity and error metrics and Dice coefficient analysis of enhancing tumor overlap. Results Ninety-six MRI examinations in 96 women (mean age, 52 years ± 12 [SD]) were evaluated. The readers assessed all simulated MRI scans as having the appearance of a real MRI scan with tumor enhancement. Index mass sizes on real and simulated MRI scans demonstrated good to excellent agreement (intraclass correlation coefficient, 0.73-0.86; P < .001) without significant differences (mean differences, -0.8 to 0.8 mm; P = .36-.80). Almost all simulated MRI scans (84 of 88 [95%]) were considered of diagnostic quality (ratings of excellent, acceptable, or good). Quantitative analysis demonstrated strong similarity (structural similarity index, 0.88 ± 0.05), low voxel-wise error (symmetric mean absolute percent error, 3.26%), and Dice coefficient of enhancing tumor overlap of 0.75 ± 0.25. Conclusion It is feasible to generate simulated contrast-enhanced breast MRI scans with use of deep learning. Simulated and real contrast-enhanced MRI scans demonstrated comparable tumor sizes, areas of tumor enhancement, and image quality without significant qualitative or quantitative differences. © RSNA, 2022 Online supplemental material is available for this article. See also the editorial by Slanetz in this issue. An earlier incorrect version appeared online. This article was corrected on January 17, 2023.


Asunto(s)
Neoplasias de la Mama , Aprendizaje Profundo , Femenino , Humanos , Persona de Mediana Edad , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Estudios Retrospectivos , Mama/diagnóstico por imagen , Mama/patología , Imagen por Resonancia Magnética/métodos , Medios de Contraste
3.
AJR Am J Roentgenol ; 218(2): 241-248, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34523953

RESUMEN

BACKGROUND. There is a paucity of data and consensus guidelines on the utility of preoperative MRI for planned bilateral prophylactic mastectomy. OBJECTIVE. The purpose of this study was to evaluate the utility of breast MRI performed in high-risk patients for the indication of planned bilateral prophylactic mastectomy, with attention given to the diagnostic performance for breast cancer detection. A secondary aim was to assess the potential impact of breast MRI findings on the decision to perform sentinel lymph node biopsy at the time of prophylactic mastectomy. METHODS. A retrospective database review identified MRI examinations performed at an academic medical center from August 2003 to January 2020 for the indication of planned bilateral prophylactic mastectomy. Patient demographics, imaging findings, operative details, and pathology were recorded. BI-RADS category 1 and 2 assessments were considered negative examinations, and BI-RADS category 3, 4, and 5 assessments were considered positive examinations. Descriptive statistics and performance metrics were calculated. RESULTS. The final cohort included 53 patients (mean age, 45 years). Most (35/53; 66.0%) studies were baseline examinations. Of the 53 patients, 31 (58.5%) had negative MRI examinations and 22 (41.5%) had positive MRI examinations. MRI detected two malignancies (one invasive lobular carcinoma and one high-grade ductal carcinoma in situ), both of which were assessed as BI-RADS category 4. The patient with invasive lobular cancer underwent sentinel lymph node biopsy at the time of mastectomy, which showed metastasis. Breast MRI had sensitivity of 100.0% and specificity of 60.8% for overall breast cancer detection and sensitivity of 100.0% and specificity of 59.6% for invasive cancer detection. CONCLUSION. Preoperative MRI for planned bilateral prophylactic mastectomy detected all cancers, indicating a potential role for MRI in impacting surgical decision making. CLINICAL IMPACT. Given the high NPV for cancer, our results suggest that lymph node biopsy may be safely avoided in patients with a negative MRI examination. This is clinically relevant because sentinel nodes cannot be identified after mastectomy.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/cirugía , Imagen por Resonancia Magnética/métodos , Cuidados Preoperatorios/métodos , Mastectomía Profiláctica/métodos , Mama/diagnóstico por imagen , Mama/cirugía , Bases de Datos Factuales , Femenino , Humanos , Tamizaje Masivo , Persona de Mediana Edad , Estudios Retrospectivos , Riesgo , Resultado del Tratamiento
4.
Anim Genet ; 53(4): 526-529, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35634705

RESUMEN

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. The aim of this study was to determine this variant's allele frequency in different populations and its possible association with HCM. Based on 160 Maine Coon samples collected in Belgium, Italy, Sweden and the USA, the variant's allele frequency was estimated to be 0.32. Analysis of the 99 Lives feline whole genome sequencing database showed that the TNNT2 variant also occurs in other breeds, as well as mixed-breed cats. Comparison of 31 affected and 58 healthy cats did not reveal significantly increased odds for HCM in homozygotes. Based on the combined evidence and in agreement with the standards and guidelines for the interpretation of sequence variants, this variant is currently classified as a variant of unknown significance and should not be used for breeding decisions regarding HCM.


Asunto(s)
Cardiomiopatía Hipertrófica , Enfermedades de los Gatos , Animales , Cardiomiopatía Hipertrófica/genética , Cardiomiopatía Hipertrófica/veterinaria , Proteínas Portadoras/genética , Gatos , Homocigoto , Mutación , Secuenciación Completa del Genoma
5.
PLoS Genet ; 15(9): e1008003, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31525180

RESUMEN

Genomic resources for the domestic dog have improved with the widespread adoption of a 173k SNP array platform and updated reference genome. SNP arrays of this density are sufficient for detecting genetic associations within breeds but are underpowered for finding associations across multiple breeds or in mixed-breed dogs, where linkage disequilibrium rapidly decays between markers, even though such studies would hold particular promise for mapping complex diseases and traits. Here we introduce an imputation reference panel, consisting of 365 diverse, whole-genome sequenced dogs and wolves, which increases the number of markers that can be queried in genome-wide association studies approximately 130-fold. Using previously genotyped dogs, we show the utility of this reference panel in identifying potentially novel associations, including a locus on CFA20 significantly associated with cranial cruciate ligament disease, and fine-mapping for canine body size and blood phenotypes, even when causal loci are not in strong linkage disequilibrium with any single array marker. This reference panel resource will improve future genome-wide association studies for canine complex diseases and other phenotypes.


Asunto(s)
Estudio de Asociación del Genoma Completo/métodos , Genómica/métodos , Secuenciación Completa del Genoma/métodos , Animales , Cruzamiento , Mapeo Cromosómico/métodos , Perros/genética , Genoma/genética , Genotipo , Desequilibrio de Ligamiento/genética , Fenotipo , Polimorfismo de Nucleótido Simple/genética
6.
J Evol Biol ; 34(12): 1878-1900, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34114711

RESUMEN

Viruses are often cultured in cell lines for research and vaccine development, and those often differ from the natural hosts or tissues. Cell lines can also differ in the presence of virus receptors, such as the sialic acid (Sia) receptors used by influenza A viruses (IAV), which can vary in linkage (α2,3- or α2,6-linkage) and form (N-glycolylneuraminic acid [Neu5Gc] or N-acetylneuraminic acid [Neu5Ac]). The selective pressures resulting from passaging viruses in cell types with host-specific variations in viral receptors are still only partially understood. IAV are commonly cultured in MDCK cells which are both derived from canine kidney tubule epithelium and inherently heterogeneous. MDCK cells naturally present Neu5Ac and α2,3-linked Sia forms. Here, we examine natural MDCK variant lineages, as well as engineered variants that synthesize Neu5Gc and/or α2,6-linkages. We determined how viral genetic variation occurred within human H3N2, H1N1 pandemic and canine H3N2 IAV populations when serially passaged in MDCK cell lines that vary in cell type (MDCK-Type I or MDCK-Type II clones) and in Sia display. Deep sequencing of viral genomes showed small numbers of consensus-level mutations, mostly within the hemagglutinin (HA) gene. Both human IAV showed variants in the HA stem and the HA receptor-binding site of populations passaged in cells displaying Neu5Gc. Canine H3N2 showed variants near the receptor-binding site when passaged in cells displaying Neu5Gc or α2,6-linkages. Viruses replicated to low titres in MDCK-Type II cells, suggesting that not all cell types in heterogeneous MDCK cell populations are equally permissive to infection.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A , Virus de la Influenza A , Animales , Línea Celular , Perros , Humanos , Subtipo H3N2 del Virus de la Influenza A/genética , Virus de la Influenza A/genética , Células de Riñón Canino Madin Darby , Receptores de Superficie Celular , Desarrollo de Vacunas
7.
AJR Am J Roentgenol ; 216(3): 633-639, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33439044

RESUMEN

OBJECTIVE. The purpose of this article was to determine the frequency and outcomes of new suspicious findings on breast MRI after initiation of neoadjuvant therapy. MATERIALS AND METHODS. A retrospective database review identified all breast MRI examinations performed to assess response to neoadjuvant therapy between 2010 and 2018. Cases with new suspicious lesions assessed as BI-RADS 4 or 5 and found after the initiation of neoadjuvant treatment were included. Cases with no pretreatment MRI, cases in which the suspicious lesion was present on the baseline MRI but remained suspicious, and cases with insufficient follow-up were excluded. Radiologic, pathologic, and surgical reports were reviewed. Malignant outcomes were determined by pathologic examination. Benignity was established by pathologic examination, follow-up imaging, or both. A total of 419 breast MRI examinations in 297 women were performed to assess response to neoadjuvant therapy. After exclusions, 23 MRI examinations (5.5%) with new suspicious findings, all assessed as BI-RADS 4, comprised the final cohort. RESULTS. Of the 23 lesions, 13 new suspicious findings (56.5%) were contralateral to the known malignancy, nine (39.1%) were ipsilateral, and one (4.3%) involved the bilateral breasts. Lesion types included mass (16, 69.6%), nonmass enhancement (5, 21.7%) and focus (2, 8.7%). None of the new suspicious findings were malignant. CONCLUSION. New suspicious findings occurred in 5.5% of breast MRI examinations performed to monitor response to neoadjuvant therapy, and none of these new lesions were malignant. Our findings suggest that new lesions that arise in the setting of neoadjuvant therapy are highly unlikely to represent a new site of malignancy, particularly if the index malignancy shows treatment response. Larger studies are needed to confirm whether biopsy may be safely averted in this scenario.


Asunto(s)
Neoplasias de la Mama/terapia , Imagen por Resonancia Magnética/métodos , Terapia Neoadyuvante , Neoplasias Primarias Secundarias/diagnóstico por imagen , Adulto , Anciano , Mama/patología , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/diagnóstico por imagen , Carcinoma Ductal de Mama/tratamiento farmacológico , Carcinoma Ductal de Mama/patología , Medios de Contraste , Femenino , Humanos , Biopsia Guiada por Imagen/métodos , Imagen por Resonancia Magnética/estadística & datos numéricos , Imagen por Resonancia Magnética Intervencional/métodos , Persona de Mediana Edad , Neoplasias Primarias Secundarias/patología , Estudios Retrospectivos , Resultado del Tratamiento , Ultrasonografía Intervencional/métodos
8.
Radiology ; 297(2): 316-324, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32870133

RESUMEN

Background Women are increasingly delaying childbearing, and thus lactation, into their 30s and 40s, when mammography would typically be the initial imaging modality to evaluate palpable masses in the general population. Current guidelines recommend US as the first-line imaging modality for palpable masses in pregnant and lactating women, but data regarding breastfeeding women age 30 years and older are near nonexistent. Purpose To evaluate the diagnostic performance of targeted US as the primary imaging modality for the evaluation of palpable masses in lactating women, including those of advanced maternal age. Materials and Methods Lactating women with palpable breast masses evaluated at targeted US over a 17-year period (January 2000 to July 2017) were retrospectively identified. All US evaluations were performed at diagnostic evaluation, and mammography was performed at the discretion of the interpreting radiologist. Breast Imaging Reporting and Data System assessments, imaging, and pathology results were collected. Descriptive statistics and 2 × 2 contingency tables were assessed at the patient level. Results There were 167 women (mean age, 35 years ± 5 [standard deviation]), 101 of whom (60%) were of advanced maternal age (≥35 years). All women underwent targeted US, and 98 (59%) underwent mammography in addition to US. The frequency of malignancy was five of 167 (3.0%). Targeted US demonstrated a sensitivity and specificity of five of five (100%; 95% confidence interval [CI]: 48%, 100%) and 114 of 162 (70%; 95% CI: 63%, 77%), respectively. Negative predictive value, positive predictive value of an abnormal examination, and positive predictive value of biopsy were 114 of 114 (100%; 95% CI: 97%, 100%), five of 53 (9.4%; 95% CI: 3%, 21%), and five of 50 (10%; 95% CI: 3%, 22%), respectively. In the subset of 98 women who underwent mammography in addition to US, mammography depicted seven incidental suspicious findings, which lowered the specificity from 62 of 93 (67%; 95% CI: 56%, 76%) to 57 of 93 (61%; 95% CI: 51%, 71%) (P = .02). Conclusion Targeted US depicted all malignancies in lactating women with palpable masses. Adding mammography increased false-positive findings without any additional cancer diagnoses. © RSNA, 2020 See also the editorial by Newell in this issue.


Asunto(s)
Lactancia Materna , Neoplasias de la Mama/diagnóstico por imagen , Edad Materna , Ultrasonografía Mamaria , Adulto , Biopsia , Femenino , Humanos , Hallazgos Incidentales , Mamografía , Palpación , Valor Predictivo de las Pruebas , Estudios Retrospectivos
9.
AJR Am J Roentgenol ; 215(1): 254-261, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32374666

RESUMEN

OBJECTIVE. MRI is not routinely used to screen for cancer recurrence after therapeutic mastectomy; however, data on this topic are sparse. We performed this study to determine the utility of breast MRI in detecting asymptomatic locoregional recurrence after therapeutic mastectomy. MATERIALS AND METHODS. A retrospective record review identified all breast MRI studies performed in women who had undergone unilateral therapeutic mastectomy over a 6-year period (January 1, 2010, to January 1, 2016). A total of 402 studies were performed in 191 women between the ages of 26 and 78 years old, none of whom were experiencing symptoms on the mastectomy side. BI-RADS assessments for the mastectomy side were extracted from the radiology reports, and the electronic medical records were reviewed for surgical and oncologic history, clinical and imaging follow-up, and pathologic results. Malignancy was determined by pathologic results. Benignity was confirmed by at least one of the following: pathologic results, at least 12 months of documented disease-free clinical follow-up, or at least 12 months of documented disease-free imaging follow-up. Descriptive statistical and 2 × 2 contingency table analyses were performed. RESULTS. In all, 395 MR images (98.3%) were assessed as showing benign findings on the mastectomy side. Seven (1.7%) were interpreted as showing positive findings on the mastectomy side (BI-RADS category 4, suspicious for malignancy). Biopsy was performed in four of the seven positive interpretations. All four biopsies yielded malignancy for a positive predictive value of biopsy of 100%. The three remaining positive cases did not include biopsy; however, in each case, follow-up imaging showed improvement or resolution of the finding, yielding a positive predictive value of an abnormal examination of 57.1%. Two MRI studies were false-negative, with local recurrence within 12 months after MRI deemed to show benign findings, yielding a negative predictive value of 99.5%. Sensitivity and specificity were 66.7% and 99.2%, respectively. The cancer detection rate in the asymptomatic mastectomy side for all MRI examinations was 10 cancers per 1000 examinations. CONCLUSION. Our findings support inclusion of the mastectomy side in MRI examinations of the contralateral breast to screen for cancer recurrence after therapeutic mastectomy.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/cirugía , Imagen por Resonancia Magnética/métodos , Recurrencia Local de Neoplasia/diagnóstico por imagen , Adulto , Anciano , Biopsia , Neoplasias de la Mama/patología , Femenino , Humanos , Mastectomía , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Estudios Retrospectivos , Sensibilidad y Especificidad
10.
AJR Am J Roentgenol ; 214(4): 938-944, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32023120

RESUMEN

OBJECTIVE. The purpose of this study was to assess the performance of diagnostic mammography alone for evaluation of palpable symptoms in women with almost entirely fatty breast composition. MATERIALS AND METHODS. All diagnostic mammograms performed for palpable symptoms in women who had been assigned a breast density of "almost entirely fatty" over an 8-year period (2009-2017) at an academic breast center were retrospectively identified. Each symptomatic breast was considered a separate case and analyses were performed at the case level. Clinical, imaging, and pathologic results were reviewed. Descriptive statistics and 2 × 2 contingency table analyses were performed. RESULTS. The study cohort included 323 cases evaluated with mammography. Of these, 294 (91%) had undergone targeted ultrasound. At mammography, 240 (74%) had no correlate to the palpable lump; 38 (12%), a benign correlate; and 45 (14%), a suspicious correlate. Three cases had incidental suspicious mammographic findings, for a total of 48 positive mammography cases. Twenty-seven (8%) cases were malignant. Mammography alone detected all but one cancer, which was detected by ultrasound. In retrospect, the woman from whom this single false-negative mammogram was obtained did not have almost entirely fatty breast density. Mammography alone yielded a negative predictive value of 99.6%, percentage of diagnostic examinations recommended for biopsy that resulted in a tissue diagnosis of malignancy within 1 year of 54%, sensitivity of 96%, and specificity of 93%. Adjunct ultrasound contributed to 11 false-positives but also identified benign correlates in eight cases with no mammographic finding. CONCLUSION. In patients with almost entirely fatty breast tissue presenting with palpable symptoms, mammography alone had a high sensitivity and specificity. Our results support that mammography alone may be sufficient for evaluation of palpable symptoms in these women as long as density criteria are strictly applied.


Asunto(s)
Tejido Adiposo/diagnóstico por imagen , Densidad de la Mama , Neoplasias de la Mama/diagnóstico por imagen , Mamografía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Persona de Mediana Edad , Palpación , Estudios Retrospectivos , Sensibilidad y Especificidad , Ultrasonografía Mamaria
11.
Conserv Genet ; 21(1): 137-148, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32607099

RESUMEN

Inbreeding poses a real or potential threat to nearly every species of conservation concern. Inbreeding leads to loss of diversity at the individual level, which can cause inbreeding depression, and at the population level, which can hinder ability to respond to a changing environment. In closed populations such as endangered species and ex situ breeding programs, some degree of inbreeding is inevitable. It is therefore vital to understand how different patterns of breeding and inbreeding can affect fitness in real animals. Domestic dogs provide an excellent model, showing dramatic variation in degree of inbreeding and in lifespan, an important aspect of fitness that is known to be impacted by inbreeding in other species. There is a strong negative correlation between body size and lifespan in dogs, but it is unknown whether the higher rate of aging in large dogs is due to body size per se or some other factor associated with large size. We used dense genome-wide SNP array data to calculate average inbreeding for over 100 dog breeds based on autozygous segment length and found that large breeds tend to have higher coefficients of inbreeding than small breeds. We then used data from the Veterinary medical Database and other published sources to estimate life expectancies for pure and mixed breed dogs. When controlling for size, variation in inbreeding was not associated with life expectancy across breeds. When comparing mixed versus purebred dogs, however, mixed breed dogs lived about 1.2 years longer on average than size-matched purebred dogs. Furthermore, individual pedigree coefficients of inbreeding and lifespans for over 9000 golden retrievers showed that inbreeding does negatively impact lifespan at the individual level. Registration data from the American Kennel Club suggest that the molecular inbreeding patterns observed in purebred dogs result from specific breeding practices and/or founder effects and not the current population size. Our results suggest that recent inbreeding, as reflected in variation within a breed, is more likely to affect fitness than historic inbreeding, as reflected in variation among breeds. Our results also indicate that occasional outcrosses, as in mixed breed dogs, can have a substantial positive effect on fitness.

12.
AJR Am J Roentgenol ; 213(2): 464-472, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31039027

RESUMEN

OBJECTIVE. The objective of our study was to assess the utility of targeted breast ultrasound and mammography in evaluating palpable lumps in the mastectomy bed. MATERIALS AND METHODS. This retrospective study identified postmastectomy patients who presented for initial imaging evaluation of palpable lumps between January 2009 and December 2015. Clinical, imaging, and pathology results were reviewed. Surgical reconstruction type and percutaneous sampling data were collected. Patients were excluded if they had known malignancy at imaging presentation, if the palpable lump was not at the mastectomy site, or if there was less than 1 year clinical or imaging follow-up in the absence of biopsy. Each palpable site was assigned as a case, and analyses were performed at the case level. RESULTS. Among the 101 patients with a history of prophylactic or therapeutic mastectomy who presented during the study period, 118 palpable cases met the inclusion criteria. All 118 cases were evaluated with ultrasound and 43 with mammography. Among the 75 cases evaluated with ultrasound alone, nine cancers were detected. Among the 43 cases evaluated with both ultrasound and mammography, three cancers were sonographically detected, of which two were mammographically visible and one was mammographically occult. There were two false-negative ultrasound cases; both underwent sampling because of the level of clinical suspicion. In total, 14 palpable lumps in 12 patients were malignant, and 104 palpable lumps in 89 patients were nonmalignant. Targeted ultrasound yielded a negative predictive value (NPV) of 97% and a positive predictive value 2 of 27%. CONCLUSION. Our data suggest that targeted breast ultrasound, with its high NPV, should be the initial imaging test of choice for palpable lumps after mastectomy. Mammography yielded no additional cancers but was helpful in confirming benign diagnoses. The two false-negative ultrasound cases support palpation-guided sampling for imaging-occult and clinically suspicious palpable lumps.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Mastectomía , Neoplasia Residual/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Gruesa , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Diagnóstico Diferencial , Femenino , Humanos , Mamografía , Persona de Mediana Edad , Neoplasia Residual/patología , Palpación , Periodo Posoperatorio , Estudios Retrospectivos , Ultrasonografía Mamaria
13.
Radiology ; 289(3): 630-638, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30277445

RESUMEN

Purpose To compare the performance of two-dimensional synthetic mammography (SM) plus digital breast tomosynthesis (DBT) versus conventional full-field digital mammography (FFDM) in the detection of microcalcifications on screening mammograms. Materials and Methods In this retrospective multireader observer study, 72 consecutive screening mammograms recalled for microcalcifications from June 2015 through August 2016 were evaluated with both FFDM and DBT. The data set included 54 mammograms with benign microcalcifications and 18 mammograms with malignant microcalcifications, and 20 additional screening mammograms without microcalcifications used as controls. FFDM alone was compared to synthetic mammography plus DBT. Four readers independently reviewed each data set and microcalcification recalls were tabulated. Sensitivity and specificity for microcalcification detection were calculated for SM plus DBT and for FFDM alone. Interreader agreement was calculated with Fleiss kappa values. Results Reader agreement was kappa value of 0.66 (P < .001) for FFDM and 0.63 (P < .001) for SM plus DBT. For FFDM, the combined reader sensitivity for all microcalcifications was 80% (229 of 288; 95% confidence interval [CI]: 74%, 84%) and for malignant microcalcifications was 92% (66 of 72; 95% CI: 83%, 97%). For SM plus DBT, the combined reader sensitivity for all microcalcifications was 75% (215 of 288; 95% CI: 69%, 80%) and for malignant microcalcifications was 94% (68 of 72; 95% CI: 86%, 98%). For FFDM, the combined reader specificity for all microcalcifications was 98% (78 of 80; 95% CI: 91%, 100%) and for malignant microcalcifications was 98% (78 of 80; 95% CI: 91%, 100%). For SM plus DBT, combined reader specificity for all microcalcifications was 95% (76 of 80; 95% CI: 88%, 99%) and for malignant microcalcifications was 95% (76 of 80; 95% CI: 88%, 99%). Mixed-effects model concluded no differences between modalities (‒0.03; 95% CI: ‒0.08, 0.01; P = .13). Conclusion Relative to full-field digital mammography, synthetic mammography plus digital breast tomosynthesis had similar sensitivity and specificity for the detection of microcalcifications previously identified for recall at screening mammography. © RSNA, 2018 See also the editorial by Bae and Moon in this issue.


Asunto(s)
Enfermedades de la Mama/diagnóstico por imagen , Calcinosis/diagnóstico por imagen , Mamografía/métodos , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Adulto , Anciano , Mama/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad
15.
Breast J ; 24(6): 1038-1042, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30240068

RESUMEN

While breast cancer most commonly presents as a screen-detected mammographic finding or a breast symptom, in very rare instances it may first present as a paraneoplastic neurologic syndrome (PNS; Surg Case Rep, 2015;1:59; Ann Neurol 2004;56:715). Fewer than 1% of breast cancer patients have PNS, and an even smaller percentage initially present with neurologic symptoms (J Neurol Neurosurg Psychiatry, 2004;75:ii43). We report a case series of three patients who presented with neurological disorders suspicious for PNS, and were subsequently found to have underlying breast cancer. We follow this with a discussion of key clinical features of management considerations in paraneoplastic syndromes secondary to breast malignancy.


Asunto(s)
Encéfalo/diagnóstico por imagen , Neoplasias de la Mama/patología , Metástasis Linfática/diagnóstico , Síndromes Paraneoplásicos del Sistema Nervioso/etiología , Encéfalo/patología , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/terapia , Carcinoma Intraductal no Infiltrante/diagnóstico , Carcinoma Intraductal no Infiltrante/terapia , Femenino , Humanos , Metástasis Linfática/patología , Imagen por Resonancia Magnética , Mastectomía , Persona de Mediana Edad , Síndromes Paraneoplásicos del Sistema Nervioso/terapia
16.
Proc Natl Acad Sci U S A ; 112(44): 13639-44, 2015 11 03.
Artículo en Inglés | MEDLINE | ID: mdl-26483491

RESUMEN

Dogs were the first domesticated species, originating at least 15,000 y ago from Eurasian gray wolves. Dogs today consist primarily of two specialized groups--a diverse set of nearly 400 pure breeds and a far more populous group of free-ranging animals adapted to a human commensal lifestyle (village dogs). Village dogs are more genetically diverse and geographically widespread than purebred dogs making them vital for unraveling dog population history. Using a semicustom 185,805-marker genotyping array, we conducted a large-scale survey of autosomal, mitochondrial, and Y chromosome diversity in 4,676 purebred dogs from 161 breeds and 549 village dogs from 38 countries. Geographic structure shows both isolation and gene flow have shaped genetic diversity in village dog populations. Some populations (notably those in the Neotropics and the South Pacific) are almost completely derived from European stock, whereas others are clearly admixed between indigenous and European dogs. Importantly, many populations--including those of Vietnam, India, and Egypt-show minimal evidence of European admixture. These populations exhibit a clear gradient of short--range linkage disequilibrium consistent with a Central Asian domestication origin.


Asunto(s)
Perros/genética , Genética de Población , Animales , Animales Domésticos , Asia
17.
J Ultrasound Med ; 36(7): 1479-1485, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28390169

RESUMEN

A general understanding of ultrasound physics relative to image optimization is essential when performing breast ultrasound examinations and in accurately interpreting images of the breast. Appropriate technique is crucial to achieve accurate lesion characterization and is emphasized in the second edition of the American College of Radiology Breast Imaging Reporting and Data System for ultrasound (2013). This pictorial essay reviews clinically relevant ultrasound physics to best characterize breast lesions for guiding the clinician to the proper diagnosis. Differences in chosen parameters on ultrasound imaging can create variability in the appearance of breast lesions.


Asunto(s)
Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/fisiopatología , Aumento de la Imagen/instrumentación , Aumento de la Imagen/métodos , Ultrasonografía Mamaria/instrumentación , Ultrasonografía Mamaria/métodos , Diseño de Equipo , Análisis de Falla de Equipo , Femenino , Humanos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Evaluación de la Tecnología Biomédica/métodos
18.
AJR Am J Roentgenol ; 207(4): 918-924, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27385404

RESUMEN

OBJECTIVE: The objective of the present study is to evaluate the effect of comparison with multiple prior mammograms on the outcomes of screening mammography relative to comparison with a single prior mammogram. MATERIALS AND METHODS: We retrospectively analyzed 46,288 consecutive screening mammograms performed at our institution for 22,792 women. We divided these examinations into three groups: those interpreted without comparison with prior mammograms, those interpreted in comparison with one prior examination, and those interpreted in comparison with two or more prior examinations. For each group, we determined the rate of examination recall. We also calculated the positive predictive value of recall (i.e., positive predictive value level 1 [PPV1]) and the cancer detection rate (CDR) for both the group of examinations compared with a single prior mammogram and the group compared with multiple prior mammograms. Generalized estimating equations with the logistic link function were used to determine the relative odds ratio of recall as a function of the number of comparisons, with adjustment made for age as a confounding variable. The Fisher exact test was performed to compare the PPV1 and the CDR in the different cohorts. RESULTS: The recall rate for mammograms interpreted without comparison with prior examinations was 16.6%, whereas that for mammograms compared with one prior examination was 7.8% and that for mammograms compared with two or more prior examinations was 6.3%. After adjustment was made for age, the odds ratio of recall for the group with multiple prior examinations relative to the group with a single prior examination was 0.864 (95% CI, 0.776-0.962; p = 0.0074). Statistically significant increases in the PPV1 of 0.05 (p = 0.0009) and in the CDR of 2.3 cases per 1000 examinations (p = 0.0481) were also noted for mammograms compared with multiple prior examinations relative to those compared with a single prior examination. CONCLUSION: Comparison with two or more prior mammograms resulted in a statistically significant reduction in the screening mammography recall rate and increases in the CDR and PPV1 relative to comparison with a single prior mammogram.

19.
PLoS Genet ; 9(12): e1003984, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24348265

RESUMEN

The identification of the H3K4 trimethylase, PRDM9, as the gene responsible for recombination hotspot localization has provided considerable insight into the mechanisms by which recombination is initiated in mammals. However, uniquely amongst mammals, canids appear to lack a functional version of PRDM9 and may therefore provide a model for understanding recombination that occurs in the absence of PRDM9, and thus how PRDM9 functions to shape the recombination landscape. We have constructed a fine-scale genetic map from patterns of linkage disequilibrium assessed using high-throughput sequence data from 51 free-ranging dogs, Canis lupus familiaris. While broad-scale properties of recombination appear similar to other mammalian species, our fine-scale estimates indicate that canine highly elevated recombination rates are observed in the vicinity of CpG rich regions including gene promoter regions, but show little association with H3K4 trimethylation marks identified in spermatocytes. By comparison to genomic data from the Andean fox, Lycalopex culpaeus, we show that biased gene conversion is a plausible mechanism by which the high CpG content of the dog genome could have occurred.


Asunto(s)
Evolución Molecular , Conversión Génica , Regiones Promotoras Genéticas , Recombinación Genética , Animales , Mapeo Cromosómico , Islas de CpG , Perros , Estudios de Asociación Genética , Genoma , N-Metiltransferasa de Histona-Lisina/genética , Desequilibrio de Ligamiento
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