Imaging approaches for the diagnosis of genetic diseases affecting the female reproductive organs and beyond.

This review aims to provide an overview of neoplastic lesions associated with genetic diseases affecting the female reproductive organs. It seeks to enhance our understanding of the radiological aspects in diagnosing genetic diseases including hereditary breast and ovarian cancer syndromes, Lynch syndrome, Peutz-Jeghers syndrome, nevoid basal cell carcinoma syndrome, and Swyer syndrome, and explores the patterns and mechanisms of inheritance that require elucidation. Additionally, we discuss the imaging characteristics of lesions occurring in other regions due to the same genetic diseases.

Imaging findings in inflammatory disease of the genital organs.

This review focuses on inflammatory diseases of female and male genital organs and discusses their epidemiology, pathogenesis, clinical presentation, and imaging findings. The female section covers pelvic inflammatory disease (PID) primarily caused by sexually transmitted infections (STIs) that affect the uterus, fallopian tubes, and ovaries. Unusual causes such as actinomycosis and tuberculosis have also been explored. The male section delves into infections affecting the vas deferens, epididymis, testes, prostate, and seminal vesicles. Uncommon causes such as tuberculosis, and Zinner syndrome have also been discussed. In addition, this review highlights other conditions that mimic male genital tract infections such as vasculitis, IgG4-related diseases, and sarcoidosis. Accurate diagnosis and appropriate management of these inflammatory diseases are essential for preventing serious complications and infertility. Imaging modalities such as ultrasound, magnetic resonance imaging, and computed tomography play a crucial role in diagnosis. Understanding the diverse etiologies and imaging findings is vital for the effective management of inflammatory diseases of the genital organs.

Imaging of diffuse fibroepithelial polyps on surgical free flap in oral cancer patients: two case reports.

Fibroepithelial polyp (FEP) is a common benign tumor occurring in the skin and genitourinary tract, and there are no reports of multiple FEPs occurring on the myocutaneous flap. We report two cases of FEPs occurring diffusely on the skin tissue of the free anterolateral thigh flap after surgical reconstruction for oral squamous cell carcinoma. Clinically, multiple papillary nodules on the myocutaneous flap gradually increased. CT and MRI showed multiple papillary nodules on an enhanced layer covering the entire myocutaneous flap. PET/CT showed high uptake. One case was diagnosed with FEPs by surgery, the other by biopsy. The tumor-limited localization on the myocutaneous flap, characteristic morphology showing multiple papillary projection with an enhanced layer, and MRI signal showing patchy mild elevation of the apparent diffusion coefficient value may help in differential diagnosis from tumor recurrence or secondary carcinoma of the myocutaneous flap on diagnostic imaging.

Differentiation of carcinosarcoma from endometrial carcinoma on magnetic resonance imaging using deep learning.

Purpose: To verify whether deep learning can be used to differentiate between carcinosarcomas (CSs) and endometrial carcinomas (ECs) using several magnetic resonance imaging (MRI) sequences. Material and methods: This retrospective study included 52 patients with CS and 279 patients with EC. A deep-learning model that uses convolutional neural networks (CNN) was trained with 572 T2-weighted images (T2WI) from 42 patients, 488 apparent diffusion coefficient of water maps from 33 patients, and 539 fat-saturated contrast-enhanced T1-weighted images from 40 patients with CS, as well as 1612 images from 223 patients with EC for each sequence. These were tested with 9-10 images of 9-10 patients with CS and 56 images of 56 patients with EC for each sequence, respectively. Three experienced radiologists independently interpreted these test images. The sensitivity, specificity, accuracy, and area under the receiver operating characteristic curve (AUC) for each sequence were compared between the CNN models and the radiologists. Results: The CNN model of each sequence had sensitivity 0.89-0.93, specificity 0.44-0.70, accuracy 0.83-0.89, and AUC 0.80-0.94. It also showed an equivalent or better diagnostic performance than the 3 readers (sensitivity 0.43-0.91, specificity 0.30-0.78, accuracy 0.45-0.88, and AUC 0.49-0.92). The CNN model displayed the highest diagnostic performance on T2WI (sensitivity 0.93, specificity 0.70, accuracy 0.89, and AUC 0.94). Conclusions: Deep learning provided diagnostic performance comparable to or better than experienced radiologists when distinguishing between CS and EC on MRI.

Two case reports showing a rather striking abnormal finding of unknown origin localized to the cortex of an amputated femur.

MRI scans of patients who have undergone leg amputation are rarely obtained; such scans may be performed when a mass is suspected to be related to the amputation or when inflammation (infection) is suspected, but the number of such cases is not large. In this study, however, we encountered 2 very striking cases in which short-tau inversion recovery coronal images taken for different purposes coincidentally showed a diffuse high signal intensity of the residual femoral cortex on the side wearing the artificial limb. Further examination of these images revealed that the superior margins of the artificial limb cup and the abnormal signal were almost identical and that the signal was only observed in the residual femur of the side using the artificial limb, suggesting that the change was caused by artificial limb usage. Despite the difficulty in imaging-pathologic correlation because the patients were still alive, we considered that the high signal was related to the characteristic microanatomy of the bone cortex and the mechanical changes caused by the effects of artificial limb usage on the residual femur. The 2 patients have not shown any specific events since then. Thus, while the residual femoral cortex may show findings of interest, these findings do not seem to require any specific treatment.

Characteristic MRI findings of the shoulder, elbow, and wrist joints in elite wheelchair basketball players.

BACKGROUND: The health of wheelchair users' upper limbs is directly related to their quality of life. Moreover, para-sport athletes are subjected to a dual load on their upper extremities from competition and daily life, making it even more critical to maintain upper extremity health. This study aimed to investigate the characteristics of joint disorders in elite wheelchair basketball players using magnetic resonance imaging (MRI). METHODS: We scanned MRI images of the bilateral shoulders, elbows, and wrist joints of ten elite wheelchair basketball players and ten general wheelchair users. The elite wheelchair players were athletes who underwent at our institution medical checkup of the candidates for the national team for the international women's tournament and who agreed to this research purpose. The general wheelchair players were recruited from wheelchair users in their 20s and 30s who had no daily exercise habits and who agreed to the study objectives. Two radiologists interpreted the MRI images and diagnosed the diseases of each joint. We compared the number of lesions between the two groups. We used Fisher's exact test to determine whether the lesions diagnosed by MRI were specific to wheelchair basketball players. The significance threshold was set at P < 0.05. RESULTS: Elite wheelchair basketball players had significantly more right-sided, left-sided and bilateral latero-posterior lesions, which are cysts found on the lateral-posterior corner of the capitulum of the humerus than did general wheelchair users (P < 0.05). Severe damage to the right triangular fibrocartilage complex was also observed more frequently (P < 0.05) in wheelchair basketball players. CONCLUSIONS: We believe that the patients' tendency to fall forward in the wheelchair hitting both hands on the ground, thereby injuring the triangular fibrocartilage complex and locking the lateral elbow, may be the cause of the characteristic findings on MRI. High-speed wheelchair operation was also considered a cause of severe triangular fibrocartilage complex injuries. This study's insights can be useful for future solutions to extend players' careers.

Effectiveness of temporal subtraction computed tomography images using deep learning in detecting vertebral bone metastases.

PURPOSE: To assess the clinical effectiveness of temporal subtraction computed tomography (TS CT) using deep learning to improve vertebral bone metastasis detection. METHOD: This retrospective study used TS CT comprising bony landmark detection, bone segmentation with a multi-atlas-based method, and spatial registration of two images by a log-domain diffeomorphic Demons algorithm. Paired current and past CT images of 50 patients without vertebral metastasis, recorded during June 2011-September 2016, were included as training data. A deep learning-based method estimated registration errors and suppressed false positives. Thereafter, paired CT images of 40 cancer patients with newly developed vertebral metastases and 40 control patients without vertebral metastases were evaluated. Six board-certified radiologists and five radiology residents independently interpreted 80 paired CT images with and without TS CT. RESULTS: Records of 40 patients in the metastasis group (median age: 64.5 years; 20 males) and 40 patients in the control group (median age: 64.0 years; 20 males) were evaluated. With TS CT, the overall figure of merit (FOM) of the board-certified radiologist and resident groups improved from 0.848 to 0.876 (p = 0.01) and from 0.752 to 0.799 (p = 0.02), respectively. The sub-analysis focusing on attenuation changes in lesions revealed that the FOM of osteoblastic lesions significantly improved in both the board-certified radiologist and resident groups using TS CT. The sub-analysis focusing on lesion location showed that the FOM of the resident group significantly improved in the vertebral arch (p = 0.04). CONCLUSIONS: TS CT was effective in detecting bone metastasis by both board-certified radiologists and radiology residents.

Diagnosing Ovarian Cancer on MRI: A Preliminary Study Comparing Deep Learning and Radiologist Assessments.

BACKGROUND: This study aimed to compare deep learning with radiologists' assessments for diagnosing ovarian carcinoma using MRI. METHODS: This retrospective study included 194 patients with pathologically confirmed ovarian carcinomas or borderline tumors and 271 patients with non-malignant lesions who underwent MRI between January 2015 and December 2020. T2WI, DWI, ADC map, and fat-saturated contrast-enhanced T1WI were used for the analysis. A deep learning model based on a convolutional neural network (CNN) was trained using 1798 images from 146 patients with malignant tumors and 1865 images from 219 patients with non-malignant lesions for each sequence, and we tested with 48 and 52 images of patients with malignant and non-malignant lesions, respectively. The sensitivity, specificity, accuracy, and AUC were compared between the CNN and interpretations of three experienced radiologists. RESULTS: The CNN of each sequence had a sensitivity of 0.77-0.85, specificity of 0.77-0.92, accuracy of 0.81-0.87, and an AUC of 0.83-0.89, and it achieved a diagnostic performance equivalent to the radiologists. The CNN showed the highest diagnostic performance on the ADC map among all sequences (specificity = 0.85; sensitivity = 0.77; accuracy = 0.81; AUC = 0.89). CONCLUSION: The CNNs provided a diagnostic performance that was non-inferior to the radiologists for diagnosing ovarian carcinomas on MRI.

"Pigtail through snare" technique: an easy and fast way to retrieve a catheter fragment with inaccessible ends.

BACKGROUND: A catheter fragment with inaccessible ends can be retrieved using the well-known two-step method: making a free end with a pigtail catheter and seizing it with a snare catheter. Here we propose an easier and faster modification, named the "pigtail through snare" technique. CASE PRESENTATION: A 61-year-old female patient underwent removal of a central venous catheter fragment migrating to the right atrium. Both ends located in the right atrial appendage and left hepatic vein were inaccessible. Initially, a snare loop was opened in the inferior vena cava and a pigtail catheter was advanced through the snare loop to hook the catheter fragment. The free end was created by pulling the pigtail catheter, dragged automatically into the snare loop, grasped, and retrieved immediately. CONCLUSIONS: By passing the pigtail catheter through the snare loop in advance, the snaring maneuver becomes easy and fast in retrieving the catheter fragment with inaccessible ends.

Diagnosing uterine cervical cancer on a single T2-weighted image: Comparison between deep learning versus radiologists.

PURPOSE: To compare deep learning with radiologists when diagnosing uterine cervical cancer on a single T2-weighted image. METHODS: This study included 418 patients (age range, 21-91 years; mean, 50.2 years) who underwent magnetic resonance imaging (MRI) between June 2013 and May 2020. We included 177 patients with pathologically confirmed cervical cancer and 241 non-cancer patients. Sagittal T2-weighted images were used for analysis. A deep learning model using convolutional neural networks (DCNN), called Xception architecture, was trained with 50 epochs using 488 images from 117 cancer patients and 509 images from 181 non-cancer patients. It was tested with 60 images for 60 cancer and 60 non-cancer patients. Three blinded experienced radiologists also interpreted these 120 images independently. Sensitivity, specificity, accuracy, and area under the receiver operating characteristic curve (AUC) were compared between the DCNN model and radiologists. RESULTS: The DCNN model and the radiologists had a sensitivity of 0.883 and 0.783-0.867, a specificity of 0.933 and 0.917-0.950, and an accuracy of 0.908 and 0.867-0.892, respectively. The DCNN model had an equal to, or better, diagnostic performance than the radiologists (AUC = 0.932, and p for accuracy = 0.272-0.62). CONCLUSION: Deep learning provided diagnostic performance equivalent to experienced radiologists when diagnosing cervical cancer on a single T2-weighted image.

Ovarian and non-ovarian teratomas: a wide spectrum of features.

Teratoma is a germ cell tumor (GCT) derived from stem cells of the early embryo and the germ line. Teratoma is the most common neoplasm of the ovaries and is usually diagnosed easily using imagings by detecting fat components. However, there are various histopathological types and the imaging findings differ according to the type. Teratoma usually occurs in the gonads or in the midline due to migration of primordial germ cells during development. The clinical course of teratomas depends on the age of the patient, histological type, and anatomical site. Sometimes teratomas show unusual manifestations, such as mature teratoma without demonstrable fat components, torsion, rupture, growing teratoma syndrome, anti-N-methyl-D-aspartate receptor encephalitis, and autoimmune hemolytic anemia. For all of these reasons, teratomas demonstrate a wide spectrum of imaging features and radiologists should be familiar with these variabilities. The present article aims to introduce a model encompassing types of GCTs based on their developmental potential, and to review several histopathological types in various anatomical sites and unusual manifestations of teratomas, with representative imaging findings.

Carcinosarcoma of the ovary: MR and clinical findings compared with high-grade serous carcinoma.

PURPOSE: To clarify imaging and clinical characteristics of ovarian carcinosarcoma (CS) compared with high-grade serous carcinoma (HGSC). METHODS: We retrospectively reviewed MR imagings of 12 patients with CS and 30 patients with HGSC and evaluated tumor size, shape, appearance, nature of cystic and solid components, hemorrhage, and necrosis. Age, premenopausal or postmenopausal, histologic subtype, presence of endometriosis, tumor markers, and stage were also evaluated. These parameters were compared using the Mann-Whitney U test and the chi-square test/Fisher's exact test. RESULTS: The mean size of CSs was 13.6 cm, and significantly larger than that of HGSCs (mean 9.0 cm, p = 0.022). The stained-glass appearance (67% vs. 23%, p = 0.013), hemorrhage (100% vs. 50%, p = 0.003), necrosis (75.0% vs. 13%, p = 0.000), and endometriosis (33% vs. 7%, p = 0.012) were significantly more common in CSs. The postmenopausal ratio of CSs was 100% and significantly higher than that of HGSCs (70.0%, p = 0.041). Among the tumor makers, only CA-125 was significantly lower in CSs than in HGSCs (mean 715.1 U/ml vs. 1677.1 U/ml, p = 0.009). The stage distribution was similar and was not significantly different. CONCLUSION: CSs formed larger masses, and the stained-glass appearance, hemorrhage, and necrosis were more frequently observed in CSs.

Characteristic MRI findings of shoulder, elbow, and wrist joints in wheelchair user.

OBJECTIVE: Wheelchair users frequently utilize their upper extremities for moving around in their daily life. Therefore, it is likely they may develop conditions of overuse in their joints, which could affect their activity and daily life. The purpose of this study is to clarify the actual conditions of the joints of wheelchair users using MRI. MATERIAL AND METHODS: Twenty-five wheelchair users and twenty able-bodied control volunteers participated in this study. We scanned MRI images of their right and left shoulders, elbows, and wrists. Two radiologists interpreted the images and made diagnoses for each of the joints. The number of diseases for each joint was compared between wheelchair users and able-bodied volunteers. RESULTS: The number of supraspinatus tendon tears was higher in wheelchair users than controls in the right (Rt.) (P < 0.05), left (Lt.) (P < 0.05), and bilateral (Bil.) (P < 0.05) shoulders. The number of elbow LP lesions (Rt. (P < 0.01), Lt. (P < 0.01), and Bil. (P < 0.05)) and the number of elbow lateral epicondylitis cases (Rt. [P < 0.05] and Lt. [P < 0.05]) were also higher in wheelchair users than that of control volunteers. Additionally, the number of wrist TFCC injuries in wheelchair users (Rt. [P < 0.01], Lt. [P < 0.01], and Bil. [P < 0.01]) was more than that of control volunteers. CONCLUSION: Our results suggest that there are several types of overuse injury in each joint. However, we hypothesize that these are not induced by driving wheelchairs, but instead by the "push up" movement characteristic for wheelchair users, according to the situations caused by each injury.

Chemoembolization of a hepatocellular carcinoma supplied by a caudate artery forming a common trunk with the supraduodenal artery: A case report.

The supraduodenal artery might arise from the hepatic, gastroduodenal, or right gastric arteries, but only a few studies have addressed the branching pattern of this artery. We herein describe a case of an 80-year-old man with hepatocellular carcinoma located in segment I. Selective arteriography and CT angiography showed that the supraduodenal artery formed a common trunk with the caudate artery to feed the tumor. The patient was successfully treated with superselective transarterial chemoembolization without gastrointestinal complications. To avoid nontargeting chemoembolization of the duodenum, interventional radiologists should be aware of this branching pattern. In suspected cases, selective CT arteriography plays a crucial role.

Impaired lesion detectability on gadoxetic acid-enhanced MR imaging in indocyanine green excretory defect: case series of three patients.

Indocyanine green (ICG) excretory defect is characterized by an ICG retention rate of more than 50% at 15 min without any other abnormal liver functions. The incidence of ICG excretory defect is 0.007% in the Japanese population. Due to its rarity, the imaging characteristics associated with ICG excretory defect remain unclear. Herein, we present three cases of ICG excretory defect, which showed impaired lesion detectability on gadoxetic acid-enhanced MR imaging (EOB-MRI). In the hepatobiliary phase (HBP) of EOB-MRI, diminished enhancement of the liver parenchyma, prolonged intravascular enhancement, and attenuated gadoxetic acid excretion to the bile duct were observed. Our study also investigated the expression level of organic anion transporting polypeptide (OATP) 1B3 and OATP1B1/1B3, which is related to the uptake of ICG and gadoxetic acid into hepatocytes. All cases showed decreased expression of OATP1B3, which was assumed to be characteristic of ICG excretory defect. The present study indicates that, when patients with ICG excretory defect are evaluated using EOB-MRI, attention should be paid to the impaired lesion detectability in the HBP due to the attenuated gadoxetic acid uptake into the liver parenchyma.

Thoracic abnormal air collections in patients in the intensive care unit: radiograph findings correlated with CT.

An abnormal collection of air in the thorax is one of the most common life-threatening events that occurs in the intensive care unit. Patient management differs depending on the location of the air collection; therefore, detecting abnormal air collection and identifying its exact location on supine chest radiographs is essential for early treatment and positive patient outcomes. Thoracic abnormal air collects in multiple thoracic spaces, including the pleural cavity, chest wall, mediastinum, pericardium, and lung. Pneumothorax in the supine position shows different radiographic findings depending on the location. Many conditions, such as skin folds, interlobar fissure, bullae in the apices, and air collection in the intrathoracic extrapleural space, mimic pneumothorax on radiographs. Additionally, pneumopericardium may resemble pneumomediastinum and needs to be differentiated. Further, some conditions such as inferior pulmonary ligament air collection versus a pneumatocele or pneumothorax in the posteromedial space require a differential diagnosis based on radiographs. Computed tomography (CT) is required to localize the air and delineate potential etiologies when a diagnosis by radiography is difficult. The purposes of this article are to review the anatomy of the potential spaces in the chest where abnormal air can collect, explain characteristic radiographic findings of the abnormal air collection in supine patients with illustrations and correlated CT images, and describe the distinguishing features of conditions that require a differential diagnosis. Since management differs based on the location of the air collection, radiologists should try to accurately detect and identify the location of air collection on supine radiographs.

Angiographic Findings in Patients with Hepatocellular Carcinoma Previously Treated Using Proton Beam Therapy.

Given the growing interest in using proton beam therapy (PBT) for hepatocellular carcinoma (HCC), it is possible that transarterial chemoembolization (TACE) could be used for selected patients who have previously undergone PBT. However, these cases can be technically challenging to treat and require appropriate preparation. Thus, we aimed to identify angiographic findings in this setting. We retrospectively identified 31 patients (28 men and 3 women, mean age: 69 years, range: 43-84 years) who underwent hepatic angiography plus TACE or transarterial infusion chemotherapy (TAI) for HCC that recurred after PBT (July 2007 to June 2018). We discovered four angiographic findings, which we speculate were related to the previous PBT. 18 patients experienced recurrence in the irradiated field, and 13 patients experienced recurrence outside the irradiated field. 29 patients underwent TACE and only 2 patients underwent TAI. The mean number of previous PBT treatments was 1.3 ± 0.6 (range: 1-4). The median interval from the earliest PBT treatment to hepatic angiography was 559 days (range: 34-5,383 days), and the median interval from the latest PBT treatment to hepatic angiography was 464 days (range: 34-5,383 days). Abnormal staining of the irradiated liver parenchyma was observed in 22 patients, which obscured the angiographic tumor staining in 4 patients. Development of a tortuous tumor feeder vessel was observed in 13 patients. Development of an extrahepatic collateral pathway was observed in 7 patients. Development of an arterioportal or arteriovenous shunt was observed in 4 patients. Based on these findings, we conclude that PBT was associated with various angiographic findings during subsequent transarterial chemotherapy for recurrent HCC, and familiarity with these findings will be important in developing appropriate treatment plans.

Clinical and MRI Characteristics of Uterine Cervical Adenocarcinoma: Its Variants and Mimics.

Adenocarcinoma currently accounts for 10-25% of all uterine cervical carcinomas and has a variety of histopathological subtypes. Among them, mucinous carcinoma gastric type is not associated with high-risk human papillomavirus (HPV) infection and a poor prognosis, while villoglandular carcinoma has an association with high-risk HPV infection and a good prognosis. They show relatively characteristic imaging findings which can be suggested by magnetic resonance imaging (MRI), though the former is sometimes difficult to be distinguished from lobular endocervical glandular hyperplasia. Various kinds of other tumors including squamous cell carcinoma should be also differentiated on MRI, while it is currently difficult to distinguish them on MRI, and HPV screening and pathological confirmation are usually necessary for definite diagnosis and further patient management.

Successful transarterial embolization of coronary artery fistula with ruptured aneurysm: A case report.

We report a case of a coronary artery fistula (CAF) with ruptured aneurysm treated using transarterial embolization (TAE) alone. The ruptured aneurysm caused cardiac tamponade, and it was isolated by embolizing its afferent and efferent vessels using detachable coils. To our knowledge, this is the first case report of successful TAE for a CAF with ruptured aneurysm. We believe that if the patient condition is stable and the CAF is anatomically simple, TAE can be a less-invasive alternative to surgery.