Intracranial cerebrovascular lesions on T2-weighted magnetic resonance imaging.

Magnetic resonance imaging (MRI) of the brain has been implemented to evaluate multiple intracranial pathologies. Non-contrast T2-weighted images are a routinely acquired sequence in almost all neuroimaging protocols. It is not uncommon to encounter various cerebrovascular lesions incidentally on brain imaging. Neuroradiologists should evaluate the routine T2-weighted images for incidental cerebrovascular lesions, irrespective of the primary indication of the study. Vascular structures typically demonstrate a low signal flow-void on the T2-weighted images. In our experience, large cerebrovascular abnormalities are easily visible to a typical neuroradiologist. In this article, we present the spectrum of the characteristic imaging appearance of various intracranial cerebrovascular lesions on routine non-contrast T2-weighted MRI. These include aneurysm, arteriovenous malformation, arterial occlusion, capillary telangiectasia, cavernous malformation, dural arteriovenous fistula, moyamoya, proliferative angiopathy, and vein of Galen malformation.

"Interstitial lung abnormalities": translation to and use in Portuguese.

Objective: To conduct a survey on the use of the term "interstitial lung abnormalities" in radiology reports in Brazil, propose an appropriate Portuguese-language translation for the term, and provide a brief review of the literature on the topic. Materials and Methods: A survey was sent via electronic message to various radiologists in Brazil, asking about their familiarity with the term, which translation of the term they use in Portuguese, and whether they use the criteria proposed by the Fleischner Society. Results: A total of 163 responses were received, from all regions of Brazil. Although the vast majority (88%) of the respondents stated that they were familiar with the term "interstitial lung abnormalities", there was considerable variation regarding the equivalent term they used in Portuguese. Conclusion: We suggest that the term "anormalidades pulmonares intersticiais" be used in order to standardize radiology reports and disseminate knowledge of these findings in Brazil.

Objetivo: Fazer um levantamento sobre o uso do termo interstitial lung abnormalities nos laudos radiológicos no Brasil, propor uma tradução para o termo e fazer uma breve revisão sobre o tema. Materiais e Métodos: Foi enviada uma pesquisa, por meio de mensagem eletrônica, para diversos radiologistas de todo o Brasil, questionando sobre a familiarização com o termo, qual tradução em português utilizam e se usam os critérios propostos pela diretriz da Sociedade Fleischner. Resultados: Foram recebidas 163 respostas de todas as regiões do Brasil e a grande maioria dos radiologistas respondeu estar familiarizado com o termo interstitial lung abnormalities (88%), mas houve grande variação em relação ao termo utilizado como tradução para o português. Conclusão: Sugerimos a padronização do termo "anormalidades pulmonares intersticiais", a fim de uniformizar os relatórios radiológicos e difundir esta entidade no País.

Prevalence and clinical significance of incidental findings in chest and abdominopelvic CT scans of trauma patients; A cross-sectional study.

BACKGROUND: Imaging may inadvertently reveal pathologies unrelated to their performing purpose, known as incidental findings (IF). This study aimed to assess the prevalence, clinical significance, and documentation of IFs in chest and abdominopelvic computed tomography (CT) scans of trauma patients. METHODS: This observational study was conducted at two urban level-1 trauma centers from March 2019 through April 2022. Official radiology reports of trauma patients who underwent chest and/or abdominopelvic CT scans at the emergency department (ED) were explored, and IF were extracted. Predictive factors of the presence of IFs and their documenting were investigated. RESULTS: Out of 656 chest and 658 abdominopelvic CT scans, 167 (25.37%) and 212 (32.31%) scans harbored at least one IF, respectively. Patients with IFs tended to be of higher age and female in both chest (age: 48 [IQR: 35-62] vs. 34 [IQR: 25-42.5]; female: 31.14% vs 14.66%, p < 0.001 for both) and abdominopelvic CT scans (age: 41 [IQR: 30-57.5] vs 33 [IQR: 25-43], female: 26.42% vs. 13.96%, p < 0.001 for both). As for documentation of significant IFs, only 49 of 112 chest IFs (43.8%) and 55 of 176 abdominopelvic IFs (31.3%) were documented. Investigating factors associated with documentation of clinically significant IFs, shorter length of hospital stay (1.5 (IQR: 0-4) vs. 3 (IQR: 2-8), p = 0.003), and discharging by ED physicians (documentation rate: 13.2% vs 42.6%, p < 0.001) were associated with poorer documentation of IFs only in abdominopelvic scans. CONCLUSION: CT imaging in ED trauma patients often reveals incidental findings, especially in older patients. Over 50% of these findings are clinically significant, yet they are frequently ignored and not documented. Physicians need to be more vigilant in recognizing and documenting these incidental findings and informing patients of the need for further evaluation.

Does clinical T1N0 GGN really require checking for distant metastasis during initial staging for lung cancer?

BACKGROUND: Accurate clinical staging is crucial for selection of optimal oncological treatment strategies in non-small cell lung cancer (NSCLC). Although brain MRI, bone scintigraphy and whole-body PET/CT play important roles in detecting distant metastases, there is a lack of evidence regarding the indication for metastatic staging in early NSCLCs, especially ground-grass nodules (GGNs). Our aim was to determine whether checking for distant metastasis is required in cases of clinical T1N0 GGN. METHODS: This was a retrospective study of initial staging using imaging tests in patients who had undergone complete surgical R0 resection for clinical T1N0 Stage IA NSCLC. RESULTS: A total of 273 patients with cT1N0 GGNs (n = 183) or cT1N0 solid tumors (STs, n = 90) were deemed eligible. No cases of distant metastasis were detected on initial routine imaging evaluations. Among all cT1N0M0 cases, there were 191 incidental findings on various modalities (128 in the GGN). Most frequently detected on brain MRI was cerebral leukoaraiosis, which was found in 98/273 (35.9%) patients, while cerebral infarction was detected in 12/273 (4.4%) patients. Treatable neoplasms, including brain meningioma and thyroid, gastric, renal and colon cancers were also detected on PET/CT (and/or MRI). Among those, 19 patients were diagnosed with a treatable disease, including other-site cancers curable with surgery. CONCLUSIONS: Extensive staging (MRI, scintigraphy, PET/CT etc.) for distant metastasis is not required for patients diagnosed with clinical T1N0 GGNs, though various imaging modalities revealed the presence of adventitious diseases with the potential to increase surgical risks, lead to separate management, and worsen patient outcomes, especially in elderly patients. If clinically feasible, it could be considered to complement staging with whole-body procedures including PET/CT.

Perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research.

BACKGROUND: Genetic research can yield information that is unrelated to the study's objectives but may be of clinical or personal interest to study participants. There is an emerging but controversial responsibility to return some genetic research results, however there is little evidence available about the views of genomic researchers and others on the African continent. METHODS: We conducted a continental survey to solicit perspectives of researchers, science policy makers and research ethics committee members on the feedback of individual genetic research findings in African genomics research. RESULTS: A total of 110 persons participated in the survey with 51 complete and 59 incomplete surveys received. Data was summarised using descriptive analysis. Overall, our respondents believed that individual genetic research results that are clinically actionable should be returned to study participants apparently because participants have a right to know things about their health, and it might also be a means for research participation to be recognized. Nonetheless, there is a need for development of precise guidance on how to return individual genetic research findings in African genomics research. DISCUSSION: Participants should receive information that could promote a healthier lifestyle; only clinically actionable findings should be returned, and participants should receive all important information that is directly relevant to their health. Nevertheless, detailed guidelines should inform what ought to be returned. H3Africa guidelines stipulate that it is generally considered good practice for researchers to feedback general study results, but there is no consensus about whether individual genomic study results should also be fed back. The decision on what individual results to feedback, if any, is very challenging and the specific context is important to make an appropriate determination.

Clinical implications of non-breast cancer related findings on FDG-PET/CT scan prior to neoadjuvant chemotherapy in patients with breast cancer.

PURPOSE: Breast cancer (BC) patients undergoing FDG-PET/CT scans for neoadjuvant chemotherapy (NAC) may have additional non-BC related findings. The aim of this study is to describe the clinical implications of these findings. METHODS: We included BC patients who underwent an FDG-PET/CT scan in our institute between 2011-2020 prior to NAC. We focused on patients with an additional non-BC related finding (i.e. BC metastases were excluded) for which diagnostic work-up was performed. Information about the diagnostic work-up and the clinical consequences was retrospectively gathered. A revision of all FDG-PET/CT scans was conducted by an independent physician to assess the suspicion level of the additional findings. RESULTS: Of the 1337 patients who underwent FDG-PET/CT, 202 patients (15%) had an non-BC related additional finding for which diagnostic work-up was conducted, resulting in 318 examinations during the first year. The non-BC related findings were mostly detected in the endocrine region (26%), gastro-intestinal region (16%), or the lungs (15%). Seventeen patients (17/202: 8%, 17/1337: 1.3%) had a second primary malignancy. Only 8 patients (8/202: 4%, 8/1337: 0.6%) had a finding that was considered more prognosis-determining than their BC disease. When revising all FDG-PET/CT scans, 57 (202/57: 28%) of the patients had an additional finding categorized as low suspicious, suggesting no indication for diagnostic work-up. CONCLUSION: FDG-PET/CT scans used for dissemination imaging in BC patients detect a high number of non-BC related additional findings, often clinically irrelevant and causing a large amount of unnecessary work-up. However, in 8% of the patients undergoing diagnostic work-up for an additional finding, a second primary malignancy was detected, warranting diagnostic attention in selected patients.

Decision-Making for Preventive Interventions in Asymptomatic Patients.

The decision to treat an incidental finding in an asymptomatic patient results from careful risk-benefit consideration and is often challenging. One of the main aspects is after how many years the group who underwent the intervention and faced the immediate treatment complications will gain a treatment benefit over the conservatively managed group, which maintains a lower but ongoing risk. We identify a common error in decision-making. We illustrate how a risk-based approach using the classical break-even point at the Kaplan-Meier curves can be misleading and advocate for using an outcome-based approach, counting the cumulative number of lost quality-adjusted life years instead. In clinical practice, we often add together the yearly risk of the natural course up to the time point where the number equals the risk of the intervention and assume that the patient will benefit from an intervention beyond this point in time. It corresponds to the crossing of the Kaplan-Meier curves. However, because treatment-related poor outcome occurs at the time of the intervention, while the poor outcome in the conservative group occurs over a given time period, the true benefit of retaining more quality-adjusted life years in the interventional group emerges at a much later time. To avoid overtreatment of patients with asymptomatic diseases, decision-making should be outcome-based with counting the cumulative loss of quality-adjusted life years, rather than risk-based, comparing the interventional risk with the ongoing yearly risk of the natural course.

Laparoscopic excision of a large retroperitoneal cyst: Case report and literature review.

Retroperitoneal cysts, a rare surgical phenomenon, present diagnostic challenges due to their typically asymptomatic nature. A 62-year-old male presented with a 4-month history of abdominal distension and increased burping. Upon clinical examination, a soft, distended, nontender abdomen with a palpable mass extending from the epigastric region to 3 cm below the umbilicus was revealed. Imaging revealed a 14.6 cm × 15.8 cm × 16.4 cm nonenhancing retroperitoneal lesion, compressing the right ureter and causing mild right hydronephrosis. Multiple gall bladder calculi, an umbilical hernia, and lipomatous lesions associated with adrenal glands were also discovered. Laparoscopic retroperitoneal cystectomy, cholecystectomy, and umbilical hernia repair were performed. Intraoperatively, 150 ml ascitic fluid and 1200 ml cystic fluid were found. This case highlights the intricate clinical presentation of a retroperitoneal cyst, emphasizing the need for surgical exploration. Successful laparoscopic management contributes to the evolving understanding of optimal treatment strategies.

Utility of pelvic CT in patients undergoing surveillance for hepatocellular carcinoma: A retrospective multi-institutional study.

OBJECTIVE: To determine the frequency, characteristics and clinical significance of incidental pelvic findings reported on abdominopelvic CT performed for hepatocellular carcinoma (HCC) surveillance in at-risk patients. MATERIAL AND METHODS: This two-center retrospective study received institutional review board approval with a waiver of informed consent. The radiologic reports of the CT exams performed 1/1/2010-2/28/2023 for HCC surveillance were reviewed. Exams were obtained with intravenous contrast material and included hepatic arterial and portal venous phases of the abdomen; images of the pelvis were acquired during the portal venous phase. Reported imaging findings and imaging-related recommendations either by the radiologists or the corresponding caregiver, if present, were retrospectively tabulated. The patient's medical records were reviewed to determine if there were any recommendations that were considered clinically important and culminated in any further interventions or treatments. RESULTS: 259 adults (1st center: mean age, 60 ± 11 years, 49% male and 2nd center: 56.26 ± 6.2 years, 48% male) at risk for HCC underwent 327 abdominopelvic CT exams for HCC surveillance at two centers. A total of 622 pelvic findings (mean, 2.2/ exam) were reported, including 131 bladder, 120 alimentary tract, 133 vascular, 51 gynecologic, 37 prostate, 33 lymph node, 27 inguinal, 44 peritoneal, and 46 skeletal. 52 of 622 reported findings (8.3%) were associated with actionable recommendations. 24 of the 52 actionable recommendations/clinical suggestions were implemented as follows: five complimentary imaging, ten additional laboratory tests, and nine non-imaging recommendations. Of note, only eight applied recommendations culminated in a clinical outcome, which included four urinary tract infection treatments. CONCLUSION: Pelvic CT findings were associated with a clinical benefit to the patient in 1.3% of exams. These results suggest that pelvic imaging should be omitted from CT-based HCC surveillance. CLINICAL RELEVANCE: Without compromising valuable information, patients undergoing HCC surveillance-CT may not require additional pelvic coverage.

Thickness of the hard palate : A new criterion for the diagnosis of osteoporosis?

BACKGROUND: We were looking for an osteoporosis screening in computed tomography (CT) exams, simple and without additional examinations. We hypothesized that the criterion of "decreasing cortical thickness", may have an influence on the hard palate. Therefore, we investigated whether thickness of the hard palate (HPT) may serve as an indicator of osteoporosis for patients imaged for other reasons. METHODS: Patients with dual-energy x-ray absorptiometry (DXA) and CT were identified by a radiology information system (RIS)-based, full-text search. Measurement of thickness of hard palate done in existing CT image by radiologist and dentist and compared with available findings and DXA measurements. RESULTS: We identified a "test group": 57 patients with DXA and CT available out of 449 patient population and we selected further 70 patients without bone diseases as "control groups". The measurements showed that HPT correlated with age and bone density. The mean HPT was 2.4 mm in normal, 0.9 mm in osteopenia, 0.8 mm in osteoporosis and 5.3 mm in osteopetrosis case. No bone "healthy" patient fell below 1 mm. The relationship between bone density and HPT has not been described previously. HPT was highest in the bone-healthy group and decreased with age, osteopenia, and osteoporosis. Osteopetrosis, as a disease with increased bone density showed an increase in HPT. CONCLUSIONS: HPT correlates with bone disease. We propose a new criterion for assessment on CT and digital volume tomography (DVT) or cone beam computed tomography (CBCT). A threshold of 1.0 mm when applying a simple measurement of HPT on Head CT or DVT may serve as an indicator for potential osteopenia or osteoporosis as incidental finding without extra imaging further diagnosis and treatment leading to early notice of Osteoporosis.

Mixed-methods study of medical students' attitudes toward peer physical examinations in Japan.

BACKGROUND: Most Japanese medical schools likely continue to rely on peer physical examination (PPE) as a tool to for teaching physical examination skills to students. However, the attitudes of medical students in Japan toward PPEs have not be identified. Therefore, we evaluated students' attitudes toward PPE in a Japanese medical school as a preparation for developing a PPE policy tailored to the context of Japanese culture. METHODS: We conducted a mixed-methods study with an explanatory sequential approach, in which qualitative data were used to interpret the quantitative findings. Surveys and interviews were conducted with medical students and junior residents at a Japanese university. A total of 63 medical students and 50 junior residents responded to the questionnaire. We interviewed 16 participants to reach theoretical saturation and investigated the attitudes of medical students toward PPE and the themes emerging from the interview data, providing detailed descriptions of the quantitative findings. RESULTS: Female participants were significantly more likely than male participants to report varying degrees of resistance to being a model patient during PPE (male: 59.7%, female: 87%, p < 0.001). Most of the participants who took on the role of patients that involved undressing were males. The participants expected improvements in issues related to the guarantee of freedom to refuse to be a model patient and measures to protect confidentiality. Approximately 22% of the participants reported that they witnessed incidental findings (including variations within the normal range) in front of other students during PPE. CONCLUSIONS: The findings imply that medical students expect high levels of autonomy and confidentiality when volunteering as model patients during PPE. Thus, developing a PPE policy suitable for Japanese culture may be effective in establishing a student-centered PPE environment.

An incidentally found mass on the remnant stomach after a Roux-en-Y gastric bypass.

BACKGROUND: Incidentally found masses are a widely discussed area of medicine, and there are conflicting opinions as to how to deal with these findings, particularly in the stomach-which has limited documentation in the literature. Here we present a middle-aged female who was found to have an incidentally found mass on her remnant stomach 10 years after a Roux-en-Y gastric bypass (RYGB) surgery. CASE PRESENTATION: We present the case of a 66-year-old female who is 10 years post-op from a RYGB. After a bout of self-resolving diarrheal illness prompted a computed tomography (CT) scan in the emergency department, she was diagnosed with a 9-cm mass on her remnant stomach that after resection was found to be a gastrointestinal stromal tumor (GIST) with the PDGRRA p.D842V gene mutation. CONCLUSION: The National Comprehensive Cancer Network (NCCN) outlines guidelines for the workup of abdominal masses. While endoscopic ultrasound is a common step in diagnosis of gastric masses, for a patient who has had a RYGB, access to the remnant stomach, which is no longer a part of the alimentary tract, is not possible. Thus, this patient's mass was surgically resected. Given the low risk of recurrence, her future care consists of follow-up with medical oncology in accordance with the NCCN guidelines.

Achados incomuns em ressonância magnética de pacientes com implantes mamários / Unusual findings on MRI of patients with breast implants

Introdução: O implante de prótese mamárias é uma das cirurgias mais realizadas no mundo. Ao longo do tempo, diversos materiais foram utilizados com objetivo de reconstituir o volume mamário. Apesar das melhorias técnicas, cirúrgicas e da segurança dos implantes atuais, os pacientes são confrontados com potenciais complicações "não usuais": rupturas intracapsulares e extracapsulares, hematomas tardios e deformidade de contorno, silicone intralinfonodal ou herniação da cápsula fibrosa. A ressonância magnética (RMN) é a modalidade de imagem mais útil para investigação dessas complicações. Método: Trata-se de uma série de casos em que foram levantadas alterações ditas "não usuais", pela baixa frequência ou ausência na citação da literatura, após cirurgias de inclusão de prótese de silicone. Os dados foram coletados da experiência pessoal da clínica privada de um dos autores, na cidade de Brasília-DF, entre abril de 2015 e março de 2023. Resultados: Foram um total de 211 pacientes avaliados, e foram encontradas alterações menos frequentes nas RMN de 12 pacientes (5,68%), das quais: 5 com volumosa quantidade de líquido pericapsular, 3 com granuloma capsular, 1 seroma tardio com conteúdo hemorrágico,1 rotura intra e extracapsular, 1 nódulo junto à cápsula fibrosa do implante, 2 linfonodopatia axilar ipsilateral, 1 silicone intralinfonodal, 1 edema do músculo peitoral, 2 tumor desmoide e 1 herniação da cápsula fibrosa. Conclusão: Estima-se que existam 50 milhões de mulheres com próteses de mama no mundo. Com base nesse dado, o número de complicações ditas "não usuais" passa a ser um desafio diagnóstico para o cirurgião plástico e o radiologista.

Introduction: Breast prosthesis implantation is one of the most performed surgeries in the world. Over time, different materials were used to reconstitute breast volume. Despite technical and surgical improvements and the safety of current implants, patients are faced with potential "unusual" complications: intracapsular and extracapsular ruptures, late hematomas and contour deformity, intra-nodal silicone, or herniation of the fibrous capsule. Magnetic resonance imaging (MRI) is the most useful imaging modality for investigating these complications. Method: This is a series of cases in which so-called "unusual" changes were reported, due to their low frequency or lack of mention in the literature, after surgeries to include a silicone prosthesis. The data were collected from the personal experience of one of the authors in his private clinic, in the city of Brasília-DF, between April 2015 and March 2023. Results: A total of 211 patients were evaluated, and less frequent changes were found in the MRI of 12 patients (5.68%), of which: 5 with a large amount of pericapsular fluid, 3 with capsular granuloma, 1 late seroma with hemorrhagic content, 1 intra and extracapsular rupture, 1 nodule close to the implant's fibrous capsule, 2 axillary lymph node disease ipsilateral, 1 intra-nodal silicone, 1 pectoral muscle edema, 2 desmoid tumor and 1 herniation of the fibrous capsule. Conclusion: It is estimated that there are 50 million women with breast implants in the world. Based on this data, the number of so-called "unusual" complications becomes a diagnostic challenge for the plastic surgeon and radiologist.

Participant perspectives on management and communication of incidental findings identified on radiographic imaging performed during a clinical research trial: A single site pilot study.

Background: Incidental findings (IFs) in radiographic imaging are unexpected discoveries unrelated to the purpose of the scan. While the protocol for communicating IFs is better defined for clinical providers, little formal guidance on communicating IFs identified on research scans to participants is available. This study explored participants' experience with communication and management of IFs found on imaging identified in a clinical research trial. Methods: Participants who completed the parent clinical trial, which included imaging, were invited to participate. A survey, developed by the study team, was administered telephonically, and consisted of multiple choice and open-ended questions. Results: Thirty participants enrolled in the survey study. Ninety-three percent of all participants (with and without IFs) reported they would participate in another research study to learn information that was important to their health. Seventeen participants reported being notified about an IF on their study scan(s). Ninety-four percent of those participants with an IF were satisfied with how the IF was communicated, and 71 % were grateful to find out about a health problem before it became an issue. Forty-one percent reported that learning about the IF led to improved health. Content analysis of the data from the open-ended questions revealed categories and themes which enriched the quantitative data. Conclusion: Participants generally wanted to know when an IF was discovered unexpectedly on their imaging scan, as they learned important information about their health. Findings underscore the importance of having a clear protocol for communicating IFs to research study participants that undergo evaluation with radiographic imaging.

Forget Me Not: Incidental Findings on Breast MRI.

With the growing utilization and expanding role of breast MRI, breast imaging radiologists may encounter an increasing number of incidental findings beyond the breast and axilla. Breast MRI encompasses a large area of anatomic coverage extending from the lower neck to the upper abdomen. While most incidental findings on breast MRI are benign, identifying metastatic disease can have a substantial impact on staging, prognosis, and treatment. Breast imaging radiologists should be familiar with common sites, MRI features, and breast cancer subtypes associated with metastatic disease to assist in differentiating malignant from benign findings. Furthermore, detection of malignancies of nonbreast origin as well as nonmalignant, but clinically relevant, incidental findings can significantly impact clinical management and patient outcomes. Breast imaging radiologists should consistently follow a comprehensive search pattern and employ techniques to improve the detection of these important incidental findings.

SDHA secondary findings in germline testing: counseling and surveillance considerations.

This commentary explores the complexities faced by clinicians when encountering a secondary SDHA pathogenic variant (PV) in patients without a personal or family history of SDHA-related tumors. The increasing use of germline multi-gene panel testing has led to a rise in such secondary findings, necessitating a nuanced approach to counseling, surveillance, and decision-making. We aim to discuss the current data surrounding the penetrance of SDHA PVs, the spectrum of screening guidelines, recommendations for educating individuals and families about their secondary findings, and the need for future research to optimize care for these individuals. Practical recommendations for clinicians dealing with patients with secondary SDHA findings include acknowledging the limitations of existing guidelines, fostering shared decision-making, and considering specialist referrals. Overall, the evolving landscape of SDHA penetrance data warrants ongoing reassessment of surveillance approaches.

The 'onion skin' sign of a low-grade appendiceal mucinous neoplasm: An incidental finding during early pregnancy assessment.

A low-grade appendiceal mucinous neoplasm (LAMN) is a cystic dilatation of the appendix resulting from the accumulation of mucinous secretions caused by a luminal obstruction. Although usually benign, pseudomyxoma peritonei may occur in the event of rupture, and 10% of cases may be secondary to appendiceal cystadenocarcinoma. A LAMN is both more common and more likely to have a malignant association in women, making it an entity with which practitioners of gynaecological ultrasound should be familiar. Although not the primary aim, early pregnancy ultrasound assessments can offer the diagnostic opportunity to identify pelvic pathology. A LAMN can be identified on ultrasonography by visualisation of an adnexal mass separate to the ovary, which due to the layers of secretions has a distinctive appearance previously likened to 'onion-skin' or 'whipped-cream'. Here, we describe an incidental finding of a LAMN during an early pregnancy assessment. Practitioners of early pregnancy ultrasound should be familiar with the characteristic morphology of this rare but important finding.

Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing.

Myotonic dystrophy type 1 is an autosomal dominant condition due to a CTG repeat expansion in the myotonic dystrophy protein kinase (DMPK) gene. This multisystem disorder affects multiple organ systems. Hypogonadism in males affected by myotonic dystrophy is commonly reported; however, the effect on female hypogonadism remains controversial. A 19-year-old female was referred to our genetics clinic due to primary amenorrhea without any family history of similar symptoms. Initial genetics evaluation identified a variant of uncertain significance in IGSF10, c.2210T>C (p.Phe737Ser). Follow-up genetic evaluation via whole genome sequencing identified at least 100 CTG repeats in the DMPK gene, thus resulting in the diagnosis of myotonic dystrophy type 1. The patient remains otherwise asymptomatic from myotonic dystrophy. This is the first report that demonstrates primary amenorrhea as a possible presenting feature of myotonic dystrophy type 1, thus providing evidence supporting female hypogonadism in myotonic dystrophy type 1.

Frequency and Clinical Significance of Incidental Findings on CBCT Imaging: a Retrospective Analysis of Full-Volume Scans.

Objectives: This retrospective study aims to identify incidental findings in cone-beam computed tomography scans of patients irradiated for preoperative evaluation for implant placement and obtained using the same imaging unit as well as the same field of view. The incidence of each incidental finding, as well as the overall incidence, were calculated and the findings were ranked according to their clinical significance. Material and Methods: A total of 741 cone-beam computed tomography (CBCT) examinations with extended field of view (15 x 15 cm) were retrospectively evaluated for incidental findings (IFs). These were identified, recorded, classified as to their location, and ranked according to their clinical significance. Results: The vast majority of CBCT examinations presented at least one IF, resulting in a surprisingly high prevalence in total. If extreme anatomical variants are considered (nasal septum deviation, sinus septations etc.), the cumulative prevalence exceeds 99%. IFs of major significance, that may require immediate attention, are beyond 10% in frequency. Conclusions: We found high prevalence of incidental findings on cone-beam computed tomography examinations performed for preoperative evaluation for implant placement (99.5% if anatomical variants included). Most incidental findings were of minor significance. Although the number of incidental findings that require immediate attention is relatively low, there is a considerable number of cases that need periodic evaluation and/or referral.