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PURPOSE: The aim of this registry was to assess technical success, procedural safety and mid- to long-term follow-up results of the Silk Vista "Mama" (SVM) flow diverter (BALT, Montmorency, France) for the treatment of proximal intracranial aneurysms. METHODS: Between August 2020 and March 2022, data from nine Italian neurovascular centres were collected. Data included patients' clinical presentation, aneurysms' size, location and status, technical details, overall complications and mid- to long-term angiographic follow-up. RESULTS: Forty-eight aneurysms in 48 patients were treated using the SVM. Most aneurysms were small (≤ 10 mm: no. 29, 60%) and unruptured (no. 31, 65%); 13 aneurysms were recurrent after coiling or clipping. 37/48 aneurysms involved the internal carotid artery (77%). Optimal opening and complete wall apposition of the device were achieved in 46 out of 48 cases (96%). Four intra- or periprocedural complications occurred (two thrombotic complications successfully resolved, one cerebellar ischemia, one perirenal hematoma), without new neurological deficit. No significant intra-stent stenosis or stent displacement was observed during follow-up. No FD-related morbidity nor mortality was reported. At midterm (6-12 months) to long-term (> 12 months) follow-up, complete aneurysm occlusion (OKM D) was achieved in 76% of cases. Eighty-eight percent of patients had complete aneurysm occlusion or entry remnant (OKM D + C). CONCLUSIONS: Our experience suggests that the new generation of low-profile SVM flow diverter for the treatment of proximal intracranial aneurysms is safe and effective, with low rates of intraprocedural complications and acceptable mid- to long-term occlusion rate.
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Embolização Terapêutica , Aneurisma Intracraniano , Sistema de Registros , Stents , Humanos , Aneurisma Intracraniano/terapia , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Masculino , Feminino , Embolização Terapêutica/métodos , Embolização Terapêutica/instrumentação , Pessoa de Meia-Idade , Idoso , Seguimentos , Círculo Arterial do Cérebro/diagnóstico por imagem , Adulto , Angiografia Cerebral , Itália , Resultado do TratamentoRESUMO
OBJECTIVES: Few experiences on vertebrobasilar occlusion over underlying intracranial atherosclerotic disease have been reported in literature and the optimal strategy on how to perform a mechanical thrombectomy is unclear. The aim of this paper is to bring our experience based on patients admitted with acute vertebrobasilar occlusion with underlying atheromatous lesions. MATERIALS AND METHODS: Several data were collected from August 2009 to October 2022 including clinical history, pre- and post-treatment neurological objectivity, diagnostic images and angiographic procedural images, and clinical outcome at 6 months. We selected 13 patients from August 2009 to October 2022, 12 men and 1 woman, aged 40 to 82 years (mean age, 62.6 years). RESULTS: Mechanical thrombectomy with a thromboaspiration was performed in all patients as beginning of the procedure. In three patients, the procedures resulted in excellent angiographic result and clinical outcome, while in three patients, we observed a failure of the procedural and clinical outcome. For residual intracranial stenosis in three patients, an angioplasty was performed obtaining an ischemic area related to the posterior circulation. In four patients, a stent was placed, in three patients, we obtained a good clinical outcome with a mRS between 0 and 2, while one treatment resulted in death, probably due to a late endovascular treatment. CONCLUSIONS: Endovascular treatment with stent deployment appears to result in an excellent outcome in patients with occlusion of the vertebrobasilar circulation in cases of occlusion on atheromatic plaque. The degree of residual stenosis after thrombospiration can significantly affect subsequent type of treatment.
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Historically, non-cancer diseases have not been considered a health risk following low-dose exposure to ionizing radiation. However, it is now well known that high-dose ionizing radiation causes cardiovascular disease, and emerging epidemiological evidence suggests an excess risk of non-cancer diseases even following exposure to lower doses of ionizing radiation than previously thought. In fact, the evidence is strongest for cardiovascular disease (CVD). The aim of this review was to report the most representative studies and data on the risk of CVD from low-dose radiation in people with occupational exposure. We reported the results of 27 articles selected from a database search of 1151 studies. The results show a complex evidence landscape on the relationship between radiation exposure and cardiovascular disease. In general, published papers show a positive association between ionizing radiation exposure and dermal microcirculation damage, ischemic heart disease, and cerebrovascular disease. Overall, they highlight the need for comprehensive and detailed research to clarify this relationship. Due to limited statistical power, the dose-risk relationship below 0.5 Gy is inconclusive, but if this relationship is found to have no threshold, it could have a significant impact on current estimates of health risks at low doses.
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OBJECTIVE: Our study aimed to evaluate safety, efficacy and clinical outcomes in patients with acute ischemic stroke with occlusion of M2 segment treated with thromboaspiration. MATERIALS AND METHODS: A retrospective study was conducted in patients with ischemic stroke of M2 segment undergoing endovascular thromboaspiration. The time period analyzed was from October 2015 until February 2021. Thromboaspiration was performed with AXS Catalyst 5 (Stryker) or AXS Catalyst 6 (Stryker) catheters. The following parameters were assessed: risk factors for ischemic stroke, National Institutes of Health Stroke Scale (entry and discharge), pre-procedural fibrinolysis, pre-procedural and 24-h Alberta Stroke Program Early CT Score, recanalization time, number of passages for recanalization, Thrombolysis in cerebral infarction scale score, periprocedural complications, Modified Rankin Scale score at 90 days from procedure and mortality. RESULTS: 90 patients were included in the study. The mean age was 75 ± 11.1 with National Institutes of Health Stroke Scale at entry 13 ± 5 and 8 ± 4 at discharge. Pre-procedural fibrinolysis were performed in 40 patients. Pre-procedural Alberta Stroke Program Early CT Score were 8.8 ± 1.3 and 6.9 ± 2.4 after 24 h from the procedure. Time of recanalization from onset of symptoms was 300 ± 82 min. Number of passages for recanalization were 1.8 ± 1.1. Thrombolysis in cerebral infarction scale score ≥ 2b were obtained in 90 % of procedures. After 90 days 33 % of patient obtained an Modified Rankin Scale between 0 and 1 (between 0 and 2 was 40 %). We didn't detect any complication in 64 % of cases (subarachnoid haemorrhage in 2 %, HI1 and HI 2 in 15 %, PH1 in 9 % of patients, PH2 in 6 % of patients). CONCLUSIONS: This paper confirms the usefulness and safety of thrombospiration in patients with ischemic stroke in the M2 segment with low intra-operative risks, high technical success and positive impact on the outcome of the patients.
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Procedimentos Endovasculares , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , AVC Isquêmico/etiologia , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/terapia , Acidente Vascular Cerebral/etiologia , Trombectomia/métodos , Infarto Cerebral , Resultado do Tratamento , Procedimentos Endovasculares/efeitos adversosRESUMO
This report describes the case of a 56-year-old woman who presented at the emergency room with a 3-week history of severe, intermittent abdominal pain. A CT scan revealed colo-colic intussusception caused by a large, substenosing mass with predominant adipose density. Subsequent endoscopic examination with biopsy revealed a necrotic tissue covering the mass, without definitive histological characterization. A second biopsy led to the extremely rare diagnosis of colo-colic lipoma. While intussusception is rare in adults, it's important to consider it as a differential diagnosis, especially when presenting with abdominal pain and signs of bowel obstruction. Timely diagnosis and appropriate treatment are essential to prevent complications.
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OBJECTIVE: Gadolinium-based contrast agent needs time to leak into the extravascular-extracellular space, leak back into the vascular space, and reach an equilibrium state. For this reason, acquisition times of <10 min may cause inaccurate estimation of pharmacokinetic parameters. Since no studies have been conducted on the influence of long scan times on DCE-MRI parameters in brain tumors, the aim of this study is to investigate the variation of DCE-MRI-derived kinetic parameters as a function of acquisition time, from 5 to 10 min in brain tumors. MATERIALS AND METHODS: Fifty-two patients with histologically confirmed brain tumors were enrolled in this retrospective study, and examination at 3 T, DCE-MRI, with scan duration of 10 min, was used for retrospective generation of 6 sets of quantitative DCE-MRI maps (Ktrans, Ve and Kep) from 5 to 10 min. Features were extracted from the DCE-MRI maps in contrast enhancement (CE) volumes. Kruskal-Wallis with post-hoc correction and coefficient of variation (CoV) were used as statistical test to compare DCE-MRI maps obtained from 6 data sets. SIGNIFICANCE: p < 0.05. RESULTS: No differences in Ktrans features in CE volumes between different scan durations. Ve, Kep features in CE volumes were influenced by different data length. The highest number of significantly different Ve and Kep features in CE volumes were between 5 min and 10 min (p < 0.013), 5 min and 9 min (p < 0.044), 6 min and 10 min (p < 0.040). CoV of Kep was reduced from 5 min to 10 min, going from highly variable (CoV = 0.70) to mildly variable (CoV = 0.42). CONCLUSION: Kep and Ve were time-dependent in brain tumors, so a longer scan time is needed to obtain reliable parameter values. Ktrans was found to be time-independent, as it remains the same in all 6 acquisition times and is the only reliable parameter with short acquisition times.
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Neoplasias Encefálicas , Imageamento por Ressonância Magnética , Humanos , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Meios de Contraste/farmacocinética , Neoplasias Encefálicas/diagnóstico por imagem , Encéfalo/diagnóstico por imagemRESUMO
OBJECTIVE: Parietal resting-state electroencephalographic (rsEEG) alpha (8-10 Hz) source connectivity is abnormal in HIV-positive persons. Here we tested whether this abnormality may be associated with subcortical white matter vascular lesions in the cerebral hemispheres. METHODS: Clinical, rsEEG, and magnetic resonance imaging (MRI) datasets in 38 HIV-positive persons and clinical and rsEEG datasets in 13 healthy controls were analyzed. Radiologists visually evaluated the subcortical white matter hyperintensities from T2-weighted FLAIR MRIs (i.e., Fazekas scale). In parallel, neurophysiologists estimated the eLORETA rsEEG source lagged linear connectivity from parietal cortical regions of interest. RESULTS: Compared to the HIV participants with no/negligible subcortical white matter hyperintensities, the HIV participants with mild/moderate subcortical white matter hyperintensities showed lower parietal interhemispheric rsEEG alpha lagged linear connectivity. This effect was also observed in HIV-positive persons with unimpaired cognition. This rsEEG marker allowed good discrimination (area under the receiver operating characteristic curve > 0.80) between the HIV-positive individuals with different amounts of subcortical white matter hyperintensities. CONCLUSIONS: The parietal rsEEG alpha source connectivity is associated with subcortical white matter vascular lesions in HIV-positive persons, even without neurocognitive disorders. SIGNIFICANCE: Those MRI-rsEEG markers may be used to screen HIV-positive persons at risk of neurocognitive disorders.
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Doença de Alzheimer , Infecções por HIV , Substância Branca , Humanos , Córtex Cerebral/fisiologia , Substância Branca/diagnóstico por imagem , Doença de Alzheimer/psicologia , Eletroencefalografia/métodos , Imageamento por Ressonância Magnética , Infecções por HIV/diagnóstico por imagemRESUMO
BACKGROUND: The sublingual administration of short-acting nitroglycerin (NTG) before coronary computed tomography (CCT) improves the visualization of coronary arteries, causing vasodilatation. The aim of this study was to evaluate whether and how nitroglycerin can influence the concordance between radiologists and cardiologists in the evaluation of vessel stenosis measured in CCT by the former and during the following coronarography by the latter. METHODS: We conducted a retrospective analysis of 131 patients who underwent CCT for cardiac symptoms in 2022, followed by coronarography performed six months later because of significant stenosis revealed by the CCT. First, the patients were divided into two groups: an NTG group who received sublingual nitroglycerin before CCT and a non-NTG group who did not because of contraindications. Second, 254 stenoses were measured by two radiologists after CCT and by two interventional cardiologists during the next coronarography; moreover, stenoses were classified on the basis of their location and plaque pattern (calcific, mixed and lipidic). Third, the strength of agreement was evaluated between the two radiologists, between the two cardiologists and finally between the radiologists and cardiologists in order to evaluate whether and how the interdisciplinary discrepancy in stenosis evaluation could change with or without the use of nitroglycerin before CCT and in relation to the different plaque pattern. RESULTS: In the NTG group, the use of nitroglycerine reduced the agreement between radiologists and cardiologists in calcific stenosis but did not change the concordance in the case of mixed or lipidic plaques on the same vessels. CONCLUSIONS: The use of sublingual nitroglycerin before CCT may lead to a radiological overestimation of calcific stenosis.
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Triple gallbladder represents a rare congenital anatomical abnormality that can be a diagnostic challenge in reason to its rarity and consequential difficulties with diagnosis and identification. A systematic review of all published literature between 1958 and 2022 was performed. We identified 20 previous studies that provided 20 cases of triple gallbladder; our case was also included in the analysis, making a total of 21 patients. All patients underwent on diagnostic imaging examinations. After 1985, 9 patients underwent US examination which allowed prompt recognition of triple gallbladder in 2 patients only. CT was performed in 3 patients and allowed the correct diagnosis in a case. In 4 patients, was performed MRCP which allowed the correct diagnosis of triple gallbladder in all patients. Preoperative imaging allows the recognition of triple gallbladder in 9 of 21 patients (43%); in 12 patients (57%) the diagnosis was intraoperative. On patients considered, 16/21 underwent cholecystectomy. In 15 cases, the excised gallbladders were submitted for histopathological characterization with detection of metaplasia of the mucosa in 3 patients, while papillary adenocarcinoma was found in one. Imaging plays a key role in the identification of the anatomical variants of gallbladder, especially triple gallbladder, as modern imaging techniques allow a detailed assessment of the course of the biliary tract for a correct preoperative diagnosis. It is also crucial to be aware of the association between this condition and the metaplasia phenomena with the development of adenocarcinoma, as this may influence the patient's course of treatment.
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Diffusion tensor imaging (DTI) and diffusion kurtosis imaging (DKI) have been previously used to explore white matter related to human immunodeficiency virus (HIV) infection. While DTI and DKI suffer from low specificity, the Combined Hindered and Restricted Model of Diffusion (CHARMED) provides additional microstructural specificity. We used these three models to evaluate microstructural differences between 35 HIV-positive patients without neurological impairment and 20 healthy controls who underwent diffusion-weighted imaging using three b-values. While significant group effects were found in all diffusion metrics, CHARMED and DKI analyses uncovered wider involvement (80% vs. 20%) of all white matter tracts in HIV infection compared with DTI. In restricted fraction (FR) analysis, we found significant differences in the left corticospinal tract, middle cerebellar peduncle, right inferior cerebellar peduncle, right corticospinal tract, splenium of the corpus callosum, left superior cerebellar peduncle, left superior cerebellar peduncle, pontine crossing tract, left posterior limb of the internal capsule, and left/right medial lemniscus. These are involved in language, motor, equilibrium, behavior, and proprioception, supporting the functional integration that is frequently impaired in HIV-positivity. Additionally, we employed a machine learning algorithm (XGBoost) to discriminate HIV-positive patients from healthy controls using DTI and CHARMED metrics on an ROIwise basis, and unique contributions to this discrimination were examined using Shapley Explanation values. The CHARMED and DKI estimates produced the best performance. Our results suggest that biophysical multishell imaging, combining additional sensitivity and built-in specificity, provides further information about the brain microstructural changes in multimodal areas involved in attentive, emotional and memory networks often impaired in HIV patients.
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Imagem de Tensor de Difusão , Infecções por HIV , Substância Branca , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Infecções por HIV/diagnóstico por imagem , Substância Branca/diagnóstico por imagemRESUMO
We describe a case of a 65-year-old woman affected by hemangiopericytoma/solitary fibrous tumor of the right shoulder-subclavian region. Hemangiopericytoma/solitary fibrous tumor is a rare tumor of uncertain malignancy. She reports shoulder pain and inability to abduct the arm and elevate the shoulder. Imaging showed erosion of the scapula. The patient underwent 5 sessions of "on demand" embolization in the previous 2 years scheduled for recurrence of symptoms-swelling of tissues. Further 2 treatments were achieved through embolization via 2 different microballoon catheter combined with percutaneous cryoablation with 5 probes. Images after the treatment demonstrate a marked reduction in the hypervascularized area and an increase in the necrosis area. So, this combined treatment is safety and reproducible also in extrahepatic tissue.
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Worldwide, myocardial infarction is a leading cause of mortality and disability. The phrase ``myocardial infarction'' refers to ischemia, which is the outcome of an imbalance in perfusion between supply and demand and results in the death of cardiac myocytes Myocardial ischemia is often diagnosed based on the patient's medical history and electrocardiogram (ECG) findings. Potential ischemic symptoms include a variety of chest, upper extremity, jaw, or epigastric pain or discomfort that typically lasts at least 20 minutes, is diffuse, not positional, not localized, not dependent on movement of the area, and may be accompanied by syncope, dyspnea, or nausea. These symptoms can occur at rest or after physical activity. These symptoms may be mistaken for other conditions since they are not specific to myocardial ischemia. Radiologists play a crucial role in this scenario since imaging is increasingly being used to identify and categorize these individuals. We report 4 cases of myocardial infarction presenting without chest pain and discovered incidentally during imaging tests.
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Current non-invasive diagnostic modalities of iatrogenic bile leak (BL) are not particularly sensitive and often fail to localise the BL origin. Percutaneous transhepatic cholangiography (PTC) and endoscopic retrograde cholangiopancreatography (ERCP) are considered the gold standard, yet are invasive studies with potential complications. Ce-MRCP has been not comprehensively studied in this setting but may prove particularly helpful given its non-invasive nature and the anatomical dynamic detail. This paper reports a monocentric retrospective study of BL patients referred between January 2018 and November 2022 submitted to Ce-MRCP followed by PTC. The primary outcome was the accuracy of Ce-MRCP in detecting and localising BL compared to PTC and ERCP. Blood tests, coexisting cholangitis features and time for leak resolution were also investigated. Thirty-nine patients were included. Liver-specific contrast-enhanced MRCP detected BL in 69% of cases. The BL localisation was 100% accurate. Total bilirubin above 4 mg/dL was significantly associated with false negative results of Ce-MRCP. Ce-MRCP is highly accurate in detecting and localising BL, but sensitivity is significantly reduced by a high bilirubin level. Ce-MRCP may be very useful in early BL diagnosis and in accurate pre-treatment planning, but can only be reliably used in selected patients with TB < 4 mg/dL. Non-surgical techniques, both radiological and endoscopic, are proven to be effective in terms of leak resolution.
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Erdheim-Chester disease is an uncommon non-Langerhans cell histiocytosis affecting multiple systems. There is limited knowledge on the imaging capabilities of this disease. We present an extremely rare case of Erdheim-Chester illness in a 67-year-old man with multisystem involvement, including the cardiovascular system, skeleton, retroperitoneum (renal and adrenal infiltration) and the neurologic system. The involvement of the various organs was thoroughly assessed using multimodal imaging modalities such as computed tomography, magnetic resonance imaging, positron emission tomography and bone scintigraphy. Erdheim-Chester illness was revealed by a bone biopsy. Especially when there is cardiac and cerebral involvement, Erdheim-Chester illness is a rare condition with a poor prognosis. Knowing the imaging characteristics of Erdheim-Chester disease may be helpful in understanding the radiological results of many organs affected by the disease as described and discussed in the current case report.
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In this case report, we describe an incidental finding of interventricular septum lipoma in a 55-year-old man who came to our attention for chest pain. The ECG showed no changes compatible with ongoing ischemia. While laboratory tests documented increased troponin levels with normal D-dimer levels. Due to the technical difficulties encountered during the performance of the transthoracic echocardiogram, a cardiac CT scan was requested, which ruled out significant coronary artery disease and acute aortic syndromes and showed the presence of a circumscribed fat-dense mass located in the basal portion of the interventricular septum. Subsequent cardiac MRI confirmed the diagnosis of lipoma of the interventricular septum.
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PURPOSE: To report a case of bilateral thalamic infarction (BTI) presenting as progressive thalamic dementia due to a midline tentorial dAVF (TdAVF) and to provide a systematic review of the literature. METHODS: We performed a systematic literature review of previously reported cases of bi-thalamic signal changes due to dAVF considering population characteristics, clinical presentation, imaging findings, treatments, and outcomes. RESULTS: We found 29 papers from 1985 until 2021 describing 35 cases of BTI dAVF-related. We analysed 36 cases comprehensive of our case report. The mean age was 58.7 years (range 38-79), 91.6% were males (n=33). Most cases presented with a subacute syndrome. In 86.1% (n=31) of cases a TdAVF was found; 58.3% (n=21) were type 2 Borden-Shucart fistulas, the remaining were mostly type 3. In 80.5% (n=29), a thrombosed sinus was identified. 33.3% of cases (n=12) had bi-thalamic haemorrhages. Endovascular treatment was performed in 83.3% of cases (n=30). A total of 75% (n=27) of cases had a good recovery. CONCLUSIONS: BTIs due to dAVFs may present with subacute symptoms overlapping with several differential diagnoses. Prompt identification at MRI, before venous drainage failure and bleeding, is crucial for a good prognosis.
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Malformações Vasculares do Sistema Nervoso Central , Demência , Embolização Terapêutica , Fístula , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Malformações Vasculares do Sistema Nervoso Central/complicações , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Imageamento por Ressonância Magnética , Embolização Terapêutica/métodos , Infarto Cerebral/complicações , Demência/diagnóstico por imagem , Demência/etiologia , Demência/terapia , Fístula/complicações , Fístula/terapiaAssuntos
COVID-19 , Humanos , Criança , SARS-CoV-2 , Autopsia , Tomografia Computadorizada por Raios X , Causas de MorteRESUMO
BACKGROUND AND PURPOSE: Parkinson disease (PD) presents relevant sex-related differences in epidemiology, pathophysiology, and clinical features, with males being more vulnerable to the disease. Sex hormones might have a role, as the experimental models suggest; however, human-based evidence is scarce. Here, we integrated multimodal biomarkers to investigate the relationships between circulating sex hormones and clinical-pathological features in male PD patients. METHODS: A cohort of 63 male PD patients underwent comprehensive clinical evaluation of motor and nonmotor disturbances; measurement of estradiol, testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) blood levels; and cerebrospinal fluid (CSF) assay of total α-synuclein, amyloid-ß-42, amyloid-ß-40, total tau, and phosphorylated-181 tau levels. A subgroup of 47 PD patients underwent brain volumetry by 3-T magnetic resonance imaging for further correlations. A control group of 56 age-matched individuals was enrolled for comparative analyses. RESULTS: Male PD patients had higher estradiol and testosterone levels than controls. Estradiol had independent inverse associations with Movement Disorder Society-Unified Parkinson's Disease Rating Scale Part 3 score and disease duration; it was also lower in nonfluctuating patients. Testosterone had inverse independent correlations with CSF α-synuclein and right globus pallidus volume. FSH and LH had age-dependent correlations with cognitive impairment and CSF amyloid-ß-42/amyloid-ß-40 ratio. CONCLUSIONS: The study suggested that sex hormones could differentially contribute to clinical-pathological features of PD in male patients. Whereas estradiol might have a protective role in motor impairment, testosterone might be involved in male vulnerability to PD neuropathology. Gonadotropins instead might mediate age-dependent phenomena of amyloidopathy and cognitive decline.
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Doença de Parkinson , Humanos , Masculino , Doença de Parkinson/complicações , alfa-Sinucleína/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Biomarcadores , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Hormônios Esteroides Gonadais , Fragmentos de Peptídeos/líquido cefalorraquidiano , Testosterona , EstradiolRESUMO
Disorders of sexual differentiation are rare congenital conditions in which the chromosomal, anatomic or gonadal sex development is atypical. In some of these patients, chromosomal sex is inconsistent with phenotypic sex; in other cases, the phenotype is not classifiable as either male or female, resulting in a condition known as ambiguous genitalia. These are very complex cases in which diagnostic certainty is not always possible. A multidisciplinary team including geneticists, pediatricians, radiologists is certainly needed to approach these patients. We present the case of an 18-year-old boy with an XY karyotype, ambiguous genitalia, uterus and blind-ending vaginal pouch. The patient had not been previously diagnosed with a disorder of sex development. The patient underwent a panel of genetic analyses and diagnostic imaging investigations. Magnetic resonance imaging was decisive for the identification of the internal genital organs, especially the uterus. At the end of investigations, the patient was diagnosed with 46,XY disorder of sex development. Our purpose is to underline the role of imaging in the diagnosis and management of congenital disorders of sex differentiation.
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Breast cancer patients undergoing neoadjuvant chemotherapy with anthracyclines or trastuzumab can suffer cardiotoxic issues. Nowadays, the markers of cardiac damage are still not reliable, and extracellular volume (ECV) calculated from CT could be a promising cardiotoxic marker. Eighty-two patients, treated with two different chemotherapy regimens based on doxorubicin (DOX) or epirubicin-trastuzumab (EPI-TRAS), were retrospectively selected and the variations in extracellular volume (ECV) values were measured and analyzed. Whole Body CT (WB-CT) scans were acquired after 1 min, in the portal phase (PP), and after 5 min, in the delayed phases (DP), at the baseline (T0), after one year (T1) and after five years (T5) from the end of chemotherapies. The values measured by two radiologists with different levels of experience were evaluated in order to assess the inter-reader reproducibility assessment (ICC = 0.52 for PP and DP). Further, we performed a population-based analysis and a drug-oriented subgroup analysis in 54 DOX-treated and 28 EPI-TRAS-treated patients. In the general cohort of women treated with any of the two drugs, we observed in the lapse T0-T1 a relative increase (RI) of 25% vs. 20% (PP vs. DP, p < 0.001) as well as in the lapse T0-T5 an RI of 17% vs. 15% (PP vs. DP, p < 0.01). The DOX-treated patients reported in the lapse T0-T1 an RI of 22% (p < 0.0001) in PP and an RI of 16% (p = 0.018) in the DP, with ECV values remaining stably high at T5 both in PP (RI 14.0%, p < 0.0001) and in DP (RI 17%, p = 0.005) highlighting a possible hallmark of a persisting CTX sub-damage. On the other hand, ECV measured in EPI-TRAS-treated women showed an RI in T0-T1 of 18% (p = 0.001) and 29% (p = 0.006) in PP and DP, respectively, but the values returned to basal levels in T5 both in the PP (p = 0.12) and in DP setting (p = 0.13), suggesting damage in the first-year post-treatment and a possible recovery over time. For the 82 patients, an echocardiography was performed at T0, T1= 12 m + 3 m and T5 = 60 m + 6 m with LVEF values at T0 (64% ± 5%), T1 (54% ± 6%) and T5 (53% ± 8%). WB-CT-derived ECV values could provide a valid imaging marker for the early diagnosis of cardiotoxic damage in BC patients undergoing oncological treatments. We detected different patterns during the follow-up, with stably high values for DOX, whereas EPI-TRAS showed a peak within the first year, suggesting different mechanisms of cardiac damage.