A Case of Solid-Appearing Struma Ovarii: Pitfall in the Assessment Using Ovarian-Adnexal Reporting and Data System Magnetic Resonance Imaging Score.

Struma ovarii is a monodermal teratoma characterized by the presence of >50% thyroid tissue. It is mostly benign; therefore, preoperative diagnosis is important. It usually manifests as a multilocular cystic mass but rarely as a predominantly solid mass. On magnetic resonance imaging (MRI), solid-appearing struma ovarii showed early signal intensity enhancement on dynamic gadolinium-enhanced T1-weighted images, which histopathologically indicates the presence of thyroid tissue with abundant blood vessels. The Ovarian-Adnexal Reporting and Data System (O-RADS) MRI score is a validated classification worldwide for characterizing adnexal lesions. Based on the morphology, signal intensity, and enhancement of any solid tissue on the MRI, the scoring system can be used to classify adnexal lesions into five categories from score one (no adnexal mass) to score five (high risk of malignancy). An adnexal solid mass with a higher signal intensity than that of the myometrium 30-40 seconds after gadolinium (Gd) injection on non-dynamic contrast-enhanced (non-DCE) MRI was assigned a score of 5 (high risk of malignancy).  We present a case of solid-appearing struma ovarii with a higher signal intensity than that of the myometrium 30 seconds after Gd injection on non-DCE MRI, and it was classified as score five preoperatively. Therefore, a total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed despite the presence of a benign ovarian mass. When an adnexal mass with a higher signal intensity than that of the myometrium 30-40 seconds after Gd injection on non-DCE MRI is encountered, struma ovarii should be included in the differential diagnosis, despite the O-RADS MRI score of five and management of the situation should be discussed.

Towards Improved Radiological Diagnostics: Investigating the Utility and Limitations of GPT-3.5 Turbo and GPT-4 with Quiz Cases.

BACKGROUND AND PURPOSE: The rise of large language models such as generative pre-trained transformers (GPTs) has sparked significant interest in radiology, especially in interpreting radiological reports and image findings. While existing research has focused on GPTs estimating diagnoses from radiological descriptions, exploring alternative diagnostic information sources is also crucial. This study introduces the use of GPTs (GPT-3.5 Turbo and GPT-4) for information retrieval and summarization, searching relevant case reports via PubMed, and investigates their potential to aid diagnosis. MATERIALS AND METHODS: From October 2021 to December 2023, we selected 115 cases from the "Case of the Week" series on the American Journal of Neuroradiology website. Their Description and Legend sections were presented to the GPTs for the two tasks. For the Direct Diagnosis task, the models provided three differential diagnoses that were considered correct if they matched the diagnosis in the diagnosis section. For the Case Report Search task, the models generated two keywords per case, creating PubMed search queries to extract up to three relevant reports. A response was considered correct if reports containing the disease name stated in the diagnosis section were extracted. McNemar's test was employed to evaluate whether adding a Case Report Search to Direct Diagnosis improved overall accuracy. RESULTS: In the Direct Diagnosis task, GPT-3.5 Turbo achieved a correct response rate of 26% (30/115 cases), whereas GPT-4 achieved 41% (47/115). For the Case Report Search task, GPT-3.5 Turbo scored 10% (11/115), and GPT-4 scored 7% (8/115). Correct responses totaled 32% (37/115) with three overlapping cases for GPT-3.5 Turbo, whereas GPT-4 had 43% (50/115) of correct responses with five overlapping cases. Adding Case Report Search improved GPT-3.5 Turbo's performance (p = 0.023) but not that of GPT-4 (p = 0.248). CONCLUSIONS: The effectiveness of adding Case Report Search to GPT-3.5 Turbo was particularly pronounced, suggesting its potential as an alternative diagnostic approach to GPTs, particularly in scenarios where direct diagnoses from GPTs are not obtainable. Nevertheless, the overall performance of GPT models in both direct diagnosis and case report retrieval tasks remains not optimal, and users should be aware of their limitations.ABBREVIATIONS: AI = Artificial Intelligence, GPT = generative pretrained transformer, LLM = large language model.

Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.

PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed. This study aimed to identify MRI features that are useful for differentiating CAIS from MRKHS. METHOD: This multicenter retrospective study included 12 patients with CAIS and 19 patients with MRKHS. Three radiologists blindly evaluated the following features: (1) detection of vagina, (2) detection of nodular and cystic structures in the lateral pelvis; undescended testicles and paratesticular cysts in CAIS and rudimentary uteri and ovaries in MRKHS, (3) their location, (4) number of cysts in the cystic structures, and (5) signal intensity on diffusion-weighted images (DWI) and apparent diffusion coefficient (ADC) values of the nodular structures. Statistical comparisons were performed using Mann-Whitney U and Fisher's exact tests. RESULTS: Compared with MRKHS, the CAIS group showed significantly detectable vagina, more ventrally located nodular and cystic structures, fewer cysts within the cystic structures, and nodular structures with higher signal intensity on DWI and lower ADC values. CONCLUSIONS: MRI features of detectable vagina, location of nodular and cystic structures, number of cysts within the cystic structures, signal intensity on DWI and ADC values of the nodular structures were useful in differentiating CAIS from MRKHS.

Impact of CT-determined low kidney volume on renal function decline: a propensity score-matched analysis.

OBJECTIVES: To investigate the relationship between low kidney volume and subsequent estimated glomerular filtration rate (eGFR) decline in eGFR category G2 (60-89 mL/min/1.73 m2) population. METHODS: In this retrospective study, we evaluated 5531 individuals with eGFR category G2 who underwent medical checkups at our institution between November 2006 and October 2017. Exclusion criteria were absent for follow-up visit, missing data, prior renal surgery, current renal disease under treatment, large renal masses, and horseshoe kidney. We developed a 3D U-net-based automated system for renal volumetry on CT images. Participants were grouped by sex-specific kidney volume deviations set at mean minus one standard deviation. After 1:1 propensity score matching, we obtained 397 pairs of individuals in the low kidney volume (LKV) and control groups. The primary endpoint was progression of eGFR categories within 5 years, assessed using Cox regression analysis. RESULTS: This study included 3220 individuals (mean age, 60.0 ± 9.7 years; men, n = 2209). The kidney volume was 404.6 ± 67.1 and 376.8 ± 68.0 cm3 in men and women, respectively. The low kidney volume (LKV) cutoff was 337.5 and 308.8 cm3 for men and women, respectively. LKV was a significant risk factor for the endpoint with an adjusted hazard ratio of 1.64 (95% confidence interval: 1.09-2.45; p = 0.02). CONCLUSION: Low kidney volume may adversely affect subsequent eGFR maintenance; hence, the use of imaging metrics may help predict eGFR decline. CRITICAL RELEVANCE STATEMENT: Low kidney volume is a significant predictor of reduced kidney function over time; thus, kidney volume measurements could aid in early identification of individuals at risk for declining kidney health. KEY POINTS: • This study explores how kidney volume affects subsequent kidney function maintenance. • Low kidney volume was associated with estimated glomerular filtration rate decreases. • Low kidney volume is a prognostic indicator of estimated glomerular filtration rate decline.

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed TSC1 loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.

Synthesis of Hybrid Data Consisting of Chest Radiographs and Tabular Clinical Records Using Dual Generative Models for COVID-19 Positive Cases.

To generate synthetic medical data incorporating image-tabular hybrid data by merging an image encoding/decoding model with a table-compatible generative model and assess their utility. We used 1342 cases from the Stony Brook University Covid-19-positive cases, comprising chest X-ray radiographs (CXRs) and tabular clinical data as a private dataset (pDS). We generated a synthetic dataset (sDS) through the following steps: (I) dimensionally reducing CXRs in the pDS using a pretrained encoder of the auto-encoding generative adversarial networks (αGAN) and integrating them with the correspondent tabular clinical data; (II) training the conditional tabular GAN (CTGAN) on this combined data to generate synthetic records, encompassing encoded image features and clinical data; and (III) reconstructing synthetic images from these encoded image features in the sDS using a pretrained decoder of the αGAN. The utility of sDS was assessed by the performance of the prediction models for patient outcomes (deceased or discharged). For the pDS test set, the area under the receiver operating characteristic (AUC) curve was calculated to compare the performance of prediction models trained separately with pDS, sDS, or a combination of both. We created an sDS comprising CXRs with a resolution of 256 × 256 pixels and tabular data containing 13 variables. The AUC for the outcome was 0.83 when the model was trained with the pDS, 0.74 with the sDS, and 0.87 when combining pDS and sDS for training. Our method is effective for generating synthetic records consisting of both images and tabular clinical data.

Prediction of antenatal bleeding and preterm deliveries using placental magnetic resonance imaging in patients with placenta previa.

PURPOSE: This study aimed to clarify associations between subacute hematoma on placental magnetic resonance imaging (MRI), antenatal bleeding, and preterm deliveries in patients with placenta previa (PP) without placenta accreta spectrum (PAS). MATERIALS AND METHODS: This retrospective study investigated 78 consecutive patients with PP (median age, 34.5 years; interquartile range [IQR], 31-37 years) who underwent placental MRI in the third trimester. Patients with PAS detected intraoperatively or pathologically were excluded. Two radiologists evaluated the presence of subacute hematomas and their locations on placental MRI. We examined associations between presence of subacute hematoma and antenatal bleeding, emergency cesarean section (CS), hysterectomy, gestational age (GA) at delivery, birth weight, and amount of blood loss at CS. We also examined the association between perinatal outcome and subacute hematoma location: marginal, retro-placental, or intra-placental. Inter-observer agreement for the detection of subacute hematoma was calculated using kappa analysis. RESULTS: Subacute hematomas were identified on MRI in 39 of the 78 patients (50.0%). Antenatal bleeding and emergency CS were more prevalent in patients with subacute hematoma on MRI (20 patients [51.3%] and 18 patients [46.2%], respectively) than in patients without (7 patients [17.9%], Fisher's exact test, p = 0.004 and 7 patients [17.9%], p = 0.014, respectively). GA at delivery was significantly lower in patients with subacute hematoma (median 36w3d, IQR 35w4d-37w1d) than in patients without (median 37w1d, IQR 36w4d-37w2d; Mann-Whitney test: p = 0.048). Marginal hematoma was significantly associated with antenatal bleeding and emergency CS. Inter-observer agreement for the presence of subacute hematoma was moderate (κ = 0.573). CONCLUSION: Subacute hematoma on placental MRI was associated with antenatal bleeding, emergency CS and shorter GA at delivery in patients with PP. Marginal hematoma was also associated with antenatal bleeding and emergency CS. Placental MRI appears useful for predicting antenatal bleeding and preterm delivery in patients with PP.

Choroid plexus and pituitary gland hemochromatosis induced by transfusional iron overload: Two case reports.

Hemochromatosis is a primary or secondary pathological condition characterized by the deposition of excess iron in the body tissues, which can eventually lead to cellular damage and organ dysfunction. Although excess iron deposition in the central nervous system is rare, involvement of the choroid plexus, pituitary gland, cortical surfaces, and basal ganglia has been reported to date. This case report describes 2 cases of transfusion-induced hemochromatosis involving the choroid plexus and pituitary gland, which were diagnosed by magnetic resonance imaging (MRI). In both cases, gradient echo (GRE) sequences, such as T2 star-weighted image and susceptibility-weighted imaging demonstrated markedly low signal intensity in the choroid plexus. Furthermore, the pituitary gland showed low signal intensity on T2-weighted images in Patient 2. Because these low signal intensities were not seen prior to red blood cell transfusion, they were diagnosed with transfusion-induced hemochromatosis. Brain MRI with GRE sequences was useful in detecting iron deposition in the choroid plexus. Considering that iron deposition in the body tissues can lead to irreversible organ damage, MRI with GRE sequences should be considered for patients with suspected iron overload.

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of serum copper and ceruloplasmin. While heterozygous deletion of exons 16 and 17 of the ATP7A gene was detected in the proband, her mother, and her grandmother, only the proband suffered from Menkes disease clinically. Intriguingly, X chromosome inactivation (XCI) analysis demonstrated that the grandmother and the mother showed skewing of XCI toward the allele with the ATP7A deletion and that the proband had extremely skewed XCI toward the normal allele, resulting in exclusive expression of the pathogenic ATP7A mRNA transcripts. Expression bias analysis and recombination mapping of the X chromosome by the combination of whole genome and RNA sequencing demonstrated that meiotic recombination occurred at Xp21-p22 and Xq26-q28. Assuming that a genetic factor on the X chromosome enhanced or suppressed XCI of its allele, the factor must be on either of the two distal regions derived from her grandfather. Although we were unable to fully uncover the molecular mechanism, we concluded that unfavorable switching of skewed XCI caused Menkes disease in the proband.

Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.

Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke. Several causative genes have been identified. Sporadic cSVD has been widely studied whereas monogenic cSVD is still poorly characterized and understood. The majority of cases of both the sporadic and monogenic types, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), typically have their onset in adulthood. Types of cSVD with infantile and childhood onset are rare, and their diagnosis is often challenging. The present review discusses the clinical and neuroimaging findings of monogenic cSVD from the prenatal to adolescent period of development. Early diagnosis is crucial to enabling timely interventions and family counseling.

Relationship between Thyroid CT Density, Volume, and Future TSH Elevation: A 5-Year Follow-Up Study.

This study aimed to explore the relationship between thyroid-stimulating hormone (TSH) elevation and the baseline computed tomography (CT) density and volume of the thyroid. We examined 86 cases with new-onset hypothyroidism (TSH > 4.5 IU/mL) and 1071 controls from a medical check-up database over 5 years. A deep learning-based thyroid segmentation method was used to assess CT density and volume. Statistical tests and logistic regression were employed to determine differences and odds ratios. Initially, the case group showed a higher CT density (89.8 vs. 81.7 Hounsfield units (HUs)) and smaller volume (13.0 vs. 15.3 mL) than those in the control group. For every +10 HU in CT density and -3 mL in volume, the odds of developing hypothyroidism increased by 1.40 and 1.35, respectively. Over the course of the study, the case group showed a notable CT density reduction (median: -8.9 HU), whereas the control group had a minor decrease (-2.9 HU). Thyroid volume remained relatively stable for both groups. Higher CT density and smaller thyroid volume at baseline are correlated with future TSH elevation. Over time, there was a substantial and minor decrease in CT density in the case and control groups, respectively. Thyroid volumes remained consistent in both cohorts.

Abscopal Effect after Stereotactic Body Radiotherapy with Nivolumab for Lung Metastasis of Head and Neck Cancer: A Case Report.

Introduction: The abscopal effect (AE) is a phenomenon, in which radiotherapy exerts an antitumour effect on distant lesions outside the primary irradiated area. Although immune checkpoint inhibitors have been widely studied for their potential to enhance the AE and improve patient outcomes, findings in cases of head and neck cancers remain limited. Case Presentation: We report the case of a 72-year-old man who experienced lung oligoprogression during nivolumab treatment for metastatic hypopharyngeal cancer. Stereotactic body radiotherapy (SBRT) was administered to one of the lung lesions, after which both irradiated and nonirradiated lesions regressed. Upon an 18-month follow-up period after SBRT, the patient showed no disease progression or toxicity, and continued receiving nivolumab therapy. Conclusion: The intent behind presenting this case report was to contribute to the accumulation of evidence regarding the AE in cases of head and neck cancer.

Pulmonary Vein Stenosis after Catheter Ablation for Atrial Fibrillation: An Early Diagnosis Using Unenhanced Computed Tomography.

Pulmonary vein stenosis (PVS) is a serious complication of catheter ablation (CA) for atrial fibrillation (AF). PVS generally occurs several months after CA and presents with non-specific symptoms and imaging findings. There have been reports of delayed diagnoses due to a misdiagnosis as infection, interstitial pneumonia, or organizing pneumonia. We introduced six cases of PVS after CA, all of which showed narrowing of the unilateral pulmonary vessels with or without lobar volume loss in the left lung on unenhanced computed tomography. We report these findings as important results indicating the possibility of PVS after CA for AF and contributing to the early diagnosis and management of PVS.

Efficient gene transduction in pigs and macaques with the engineered AAV vector AAV.GT5 for hemophilia B gene therapy.

Gene therapy using adeno-associated virus (AAV)-based vectors has become a realistic therapeutic option for hemophilia. We examined the potential of a novel engineered liver-tropic AAV3B-based vector, AAV.GT5, for hemophilia B gene therapy. In vitro transduction with AAV.GT5 in human hepatocytes was more than 100 times higher than with AAV-Spark100, another bioengineered vector used in a clinical trial. However, liver transduction following intravenous injection of these vectors was similar in mice with a humanized liver and in macaques. This discrepancy was due to the low recovery and short half-life of AAV.GT5 in blood, depending on the positive charge of the heparin-binding site in the capsid. Bypassing systemic clearance with the intra-hepatic vascular administration of AAV.GT5, but not AAV-Spark100, enhanced liver transduction in pigs and macaques. AAV.GT5 did not develop neutralizing antibodies (NAbs) in two of four animals, while AAV-Spark100 induced serotype-specific NAbs in all macaques tested (4 of 4). The NAbs produced after AAV-Spark100 administration were relatively serotype specific, and challenge with AAV.GT5 through the hepatic artery successfully boosted liver transduction in one animal previously administered AAV-Spark100. In summary, AAV.GT5 showed different vector kinetics and NAb induction compared with AAV-Spark100, and intra-hepatic vascular administration may minimize the vector dose required and vector dissemination.

Magnetic resonance imaging findings of sclerosing microcystic adenocarcinoma: A case report and review of the literature.

Sclerosing microcystic adenocarcinoma (SMA) is a rare malignant tumor of the salivary glands that closely resembles cutaneous microcystic adnexal carcinoma (MAC). It was newly listed in the 5th edition of the WHO classification of head and neck tumors. This report describes the case of a 61-year-old woman who presented with masses on the floor of the mouth. The masses showed low signal intensity on T2-weighted images (T2WI) and with low apparent diffusion coefficient (ADC) values. Dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) revealed a plateau or persistence after rapid initial enhancement. Histopathologically, the tumors comprised small infiltrating strands of cells that formed small ducts and cysts embedded in thick fibrous stroma, consistent with SMA. Low signal intensity on T2WI with a low ADC value and a plateau or persistence after rapid initial enhancement on DCE-MRI reflect the fibrous and cellular components of the tumor and can be considered characteristic MRI findings of SMA.

Optic pathway involvement in the posterior reversible encephalopathy syndrome: A case report and review of the literature.

Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological condition characterized by reversible vasogenic edema of the white matter and acute neurological symptoms. PRES typically affects the parieto-occipital regions but rarely affects the optic pathway. Herein, we describe a case of central-variant PRES in a 57-year-old man with abnormal signal intensities in the optic pathway on magnetic resonance imaging (MRI). The patient underwent hemodialysis, initiated diuretics and antihypertensive medications, and the abnormal signal intensities of the brainstem and optic pathway on MRI improved. Although rare, PRES can affect the optic pathway, thus suggesting the possibility of fragility of the optic pathway itself to hyperperfusion.

Clinical Outcomes of Radiotherapy for Stage 1 Glottic Carcinoma: Comparing Accelerated Hyperfractionation and Once-daily Fractionation.

BACKGROUND/AIM: Accelerated hyperfractionation (AHF) is used in head and neck cancer to improve the local control (LC) rate, but reports of outcomes for early-stage GC are limited. The outcomes of radiotherapy (RT) for stage 1 glottic carcinoma (GC) were retrospectively analyzed, comparing AHF and once-daily fractionation (ODF) using 2.0-2.4 Gy. PATIENTS AND METHODS: A total of 102 patients with stage 1 GC underwent RT alone between 2007 and 2021, with 43 in the AHF group and 59 in the ODF group. A p-value less than 0.05 was considered to indicate a significant difference. RESULTS: The 5-year LC rate was 98% in the AHF group and 91% in the ODF group (p=0.19). During RT, significantly more patients in the AHF group required opioids due to mucositis than in the ODF group (74% vs. 25%, p<0.001), and the rate of aspiration pneumonia tended to be higher in the AHF group than in the ODF group (7% vs. 0%, p=0.072). CONCLUSION: There was no difference in the LC rate between AHF and ODF for stage 1 GC. Moreover, the AHF group required opioids at a higher rate and tended to have a higher risk of developing aspiration pneumonia.

Intradural Chordoma Mimicking an Epidermoid Cyst on Imaging.

Chordomas are rare, locally aggressive, primary bone tumors derived from primitive notochord remnants. They almost always arise within the axial skeleton, particularly in the skull base and the sacrococcygeal region. They usually present as extradural tumors, but rarely, they present as entirely intradural tumors. This report describes a case of intradural chordoma that mimicked an epidermoid cyst. A 72-year-old woman was incidentally found to have a prepontine extra-axial mass on magnetic resonance imaging. The mass gradually increased in size, and she felt discomfort in the right cheek area. The mass showed similar signal intensity to cerebrospinal fluid on T1-weighted images and T2-weighted images, but high signal intensity on fluid-attenuated inversion recovery images and diffusion-weighted images. Because the presence of very faint contrast enhancement was not noticed, the mass was preoperatively diagnosed as an epidermoid cyst. Tumor resection was performed, and the histopathological diagnosis was chondroid chordoma. Since intradural chordoma may resemble an epidermoid cyst on imaging, radiologists should check carefully for the presence of contrast enhancement and suggest the possibility of intradural chordoma.