Sex hormones differentially contribute to Parkinson disease in males: A multimodal biomarker study.

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.

Bithalamic infarction in a tentorial dural artero-venous fistula and thalamic dementia: a case report and systematic review.

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.

Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.

Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC.

Qualitative and quantitative analysis of 3D T1 Silent imaging.

PURPOSE: To compare brain magnetic resonance imaging (MRI) using T1 3D Silent and fast T1 3D Gradient-Echo (GRE) BRAin VOlume (known as BRAVO) sequences. The primary aim is to assess the quantitative and qualitative analysis of Silent and BRAVO images by the measurement of the contrast (C), the signal-to-noise ratio (SNR) and the contrast-to-noise ratio (CNR). The second aim is to estimate the subjective sound levels and the specific absorption rate (SAR). METHODS: Twenty-two subjects had T1 3D Silent and T1 3D BRAVO sequences added to the standard MR examination. The qualitative analysis of the two sequences was performed by two radiologists independently. The quantitative analysis was performed by placing regions of interest on the cerebrospinal fluid, on the white and grey matter. The C, the CNR and the SNR were calculated for each sequence. After each T1-3D sequence, subjects gave a score rating to evaluate the acoustic noise. Finally, the SAR was evaluated by the digital imaging and communications in medicine (DICOM) tags. RESULTS: The image quality scores obtained by the two radiologists were higher for BRAVO compared to the Silent. However, qualitatively, the Silent images were similar to BRAVO for diagnostic use. Quantitatively, CNR for GM-CSF was comparable in the two sequences and SNR in CSF was higher in Silent than BRAVO. The acoustic noise of Silent sequence was statistically lower compared with BRAVO. The maximum SAR measured was 1.4 W/kg. CONCLUSIONS: 3D T1 Silent can be a valid alternative technique to conventional BRAVO to reduce the acoustic noise preserving the diagnostic accuracy. However, radiologists preferred the conventional sequence to Silent.

Radiological imaging in multiple myeloma: review of the state-of-the-art.

PURPOSE: Multiple myeloma is a type of blood cancer arising from the uncontrolled clonal proliferation of malignant plasma cells resulting in impaired hematopoiesis, hyper production of monoclonal protein, bone tissue destruction leading and renal system alterations up to kidney failure. The aim is to review the state-of-the-art of radiological imaging in multiple myeloma. METHODS: Radiological techniques as well as the advancements in imaging technology have been reviewed and summarized. The main radiological findings of different imaging techniques in patients suffering from multiple myeloma are also illustrated. RESULTS: Different radiological techniques provide structural and functional data. In the last years, conventional skeletal survey has gradually lost its utility and it has been replaced by whole body low-dose computed tomography which allows to identify also small lytic lesions, the medullary and the extramedullary involvement. Nowadays, magnetic resonance is the most sensitive imaging technique for detecting of skeletal as well as medullary involvement in patients with multiple myeloma. Thanks to the multiparametric evaluation (morphological, diffusion weighted and perfusion imaging sequences) and to the quantitative analysis, magnetic resonance imaging is proved to be useful in the early evaluation of response to therapy. Finally, positron emission tomography has greater sensibility compared to computed tomography as it provides quantitative data; however, the lower expression levels of the specific gene involved in the glycolysis pathway are associated with false-negative results with consequent underestimation of the disease. CONCLUSION: The only use of the advanced combined multimodal imaging allows a better evaluation, staging and early assessment of treatment response in patients with multiple myeloma.

Cerebritis, optic ischemia, and cavernous sinus thrombosis arising from sinonasal mucormycosis.

Brain and ocular infections can be the worst and fatal consequences of sinonasal infections in immunomodulated or immunocompromised patients. We report a case of a 35-year-old female who received an allogenic hematopoietic stem cell transplantation for acute myeloid leukemia, suffering from maxillo-spheno-ethmoidal rhinosinusitis which was complicated by cavernous sinus thrombosis, orbital cellulitis, optic ischemia and cerebritis.

Influence of scan duration on dynamic contrast -enhanced magnetic resonance imaging pharmacokinetic parameters for brain lesions.

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.

Mapping glioma heterogeneity using multiparametric 18 F-choline PET/MRI in childhood and teenage-young adults.

OBJECTIVE: The heterogeneity of post-treatment imaging remains a significant challenge in children and teenagers/young adults (TYA) diagnosed with glioma. The aim of this study was to evaluate the utility of 18 F-choline PET/MRI in determining intratumoural heterogeneity in paediatric and TYA gliomas. METHODS: Twenty-six patients (mean age 16 years, range 8-22 years) with suspected glioma disease progression were evaluated with 18 F-choline PET/MRI. Relative cerebral blood volume (rCBV), apparent diffusion coefficient (ADC) and maximum standardised uptake values (SUV max ) in enhancing (enh) and non-enhancing (ne) tumour volumes and normal-appearing white matter (wm) were calculated (rCBV enh , rCBV ne , rCBV wm , ADC enh , ADC ne , ADC wm , SUV enh , SUV ne and SUV wm ). RESULTS: Significantly higher SUV enh and SUV ne compared with SUV wm were observed [SUV enh 0.89 (0.23-1.90), SUV ne 0.36 (0.16-0.78) versus SUV wm 0.15 (0.04-1.19); P < 0.001 and P = 0.004, respectively]. Equivalent results were observed for ADV and rCBV (ADC enh , ADC ne : P < 0.001 versus ADC wm ; rCBV enh , rCBV ne : P < 0.001 versus rCBV wm ). The highest values for mean SUV max [0.89 (0.23-1.90)] and mean rCBV [2.1 (0.74-5.08)] were in the enhancing component, while the highest values for ADC [1780 mm 2 /s (863-2811)] were in the necrotic component. CONCLUSION: 18 F-choline PET/MRI is able map imaging heterogeneity in paediatric and TYA gliomas, detecting post-treatment enhancing, non-enhancing, and necrotic tumour components equivalent to ADC and DSC-derived rCBV. This offers potential in the response assessment of diffuse non-enhancing gliomas and in selected cases such as posterior fossa tumours where quantitative MRI is technically difficult.

Triple gallbladder: radiological review.

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.

Coexistence of primary central nervous system lymphoma and primary breast lymphoma: Clinical presentation, imaging features, and treatment management.

The presence of synchronous dual hematological diseases is an uncommon finding. We report an unusual case of coexistence of primary central nervous system lymphoma and primary breast lymphoma without systemic involvement in an immunocompetent patient. To our knowledge a similar case has not yet been reported in the literature. We especially focus on presenting the imaging features, the associated clinical findings and treatment management of each entity, with the aim of raising awareness on these two rare types of lymphomas and the possibility of their coexistence.

Spinal vascular lesions: anatomy, imaging techniques and treatment.

BACKGROUND: Vascular lesions of the spinal cord are rare but potentially devastating conditions whose accurate recognition critically determines the clinical outcome. Several conditions lead to myelopathy due to either arterial ischemia, venous congestion or bleeding within the cord. The clinical presentation varies, according with the different aetiology and mechanism of damage. PURPOSE: The aim is to provide a comprehensive review on the radiological features of the most common vascular myelopathies, passing through the knowledge of the vascular spinal anatomy and the clinical aspects of the different aetiologies, which is crucial to promptly address the diagnosis and the radiological assessment.

MRI-Based Radiomics to Differentiate between Benign and Malignant Parotid Tumors With External Validation.

BACKGROUND: The differentiation between benign and malignant parotid lesions is crucial to defining the treatment plan, which highly depends on the tumor histology. We aimed to evaluate the role of MRI-based radiomics using both T2-weighted (T2-w) images and Apparent Diffusion Coefficient (ADC) maps in the differentiation of parotid lesions, in order to develop predictive models with an external validation cohort. MATERIALS AND METHODS: A sample of 69 untreated parotid lesions was evaluated retrospectively, including 37 benign (of which 13 were Warthin's tumors) and 32 malignant tumors. The patient population was divided into three groups: benign lesions (24 cases), Warthin's lesions (13 cases), and malignant lesions (32 cases), which were compared in pairs. First- and second-order features were derived for each lesion. Margins and contrast enhancement patterns (CE) were qualitatively assessed. The model with the final feature set was achieved using the support vector machine binary classification algorithm. RESULTS: Models for discriminating between Warthin's and malignant tumors, benign and Warthin's tumors and benign and malignant tumors had an accuracy of 86.7%, 91.9% and 80.4%, respectively. After the feature selection process, four parameters for each model were used, including histogram-based features from ADC and T2-w images, shape-based features and types of margins and/or CE. Comparable accuracies were obtained after validation with the external cohort. CONCLUSIONS: Radiomic analysis of ADC, T2-w images, and qualitative scores evaluating margins and CE allowed us to obtain good to excellent diagnostic accuracies in differentiating parotid lesions, which were confirmed with an external validation cohort.

Ileal Neuroendocrine Tumor in a Patient with Sclerosing Mesenteritis: Which Came First?

BACKGROUND Jejunoileal neuroendocrine tumors (JI-NETs) are rare tumors that can be associated with mesenteric fibrosis. This case report is of an incidental finding of a JI-NET in a patient who was previously misdiagnosed with sclerosing mesenteritis. CASE REPORT A 42-year-old man was admitted to our institution with diffuse abdominal pain and clinical and radiographic signs of bowel obstruction. He had a previous diagnosis of sclerosing mesenteritis, which had been histologically diagnosed after an exploratory laparoscopy performed in 2009 for recurrent acute abdominal pain. He was also annually monitored through computed tomography scans for an incidentally discovered, gradually enlarging mesenteric mass for which a "wait and watch" management approach was adopted. After a period of fasting and observation, the patient underwent an urgent exploratory laparotomy because of his worsening condition. Intraoperatively, an ileocecal resection was performed, along with excision of the known mesenteric mass. The pathology report revealed an ileal NET with nodal metastases within the mesentery and mesenteric tumor deposits (pT3N1). CONCLUSIONS JI-NETs are rare entities, which are usually encountered as incidental findings or in patients with unspecific abdominal pain. Our case represents a probable delayed diagnosis of JI-NET in the context of sclerosing mesenteritis; therefore, a possible association between these 2 conditions should be investigated.

The use of multiparametric 18F-fluoro-L-3,4-dihydroxy-phenylalanine PET/MRI in post-therapy assessment of patients with gliomas.

PURPOSE: To determine the utility of F-fluoro-L-3,4-dihydroxy-phenylalanine (F-DOPA) PET/MRI versus cross-sectional MRI alone in glioma response assessment and identify whether the two techniques demonstrate different tumour features. METHODS: F-DOPA PET/MRI studies from 40 patients were analysed. Quantitative PET parameters and conventional MRI features were recorded. Tumour volume was assessed on both PET and MRI. Using dynamic susceptibility contrast perfusion-weighted imaging, maps of cerebral blood flow (CBF) and cerebral blood volume (CBV) were obtained. Within volume of tumours of tumour features and normal-appearing white matter (NAWM) drawn on MRI, standardised uptake value (SUV)max, CBF and CBV were recorded. Presence of residual active tumour was assessed by qualitative visual assessment. Receiver operating characteristic analysis was performed univariately and on parameter combination to analyse ability to determine presence/absence of disease. Reference standard for presence of viable tissue was biopsy or clinical follow-up. RESULTS: Median SUVmax was 3.4 for low-grade glioma (LGG) and 3.3 for high-grade glioma (HGG). There was a significant correlation between PWI parameters and WHO grade (P < 0.001), but no correlation with SUVmax. Median F-DOPA volume was 8216.88 mm for HGG and 6284.94 mm for LGG; MRI volume was 6316.57 mm and 5931.55 mm, respectively. SUVmax analysis distinguished enhancing and nonenhancing components from necrosis and NAWM and demonstrated active disease in nonenhancing regions. Visually, the modalities were concordant in 37 patients. Combining the multiparametric PET/MRI approach with all available data-enhanced detection of the presence of tumour (area under the curve 0.99, P < 0.01). CONCLUSION: MRI and F-DOPA are complementary modalities for assessment of tumour burden. Matching F-DOPA and MRI in assessing residual tumour volume may better delineate the radiotherapy target volume.

A de novo truncating mutation in ASXL1 associated with segmental overgrowth.

Mutations in genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype-phenotype correlations are available for some of the rarest genetic disorders that affect chromatin regulation. We hereby describe a 12-year-old girl presented at birth with severe hypotonia, developmental delay, a mid-line capillary malformation and distinctive craniofacial features. During the natural history of her disease, the girl developed severe spasticity and drug-resistant seizures, leading to a diagnosis of Bohring-Opitz syndrome (BOS). We performed whole-exome sequencing (WES) and identified a de novo mutation in ASXL1 (c.2033dupG) which results in the introduction of a premature stop codon (p.R678fs*6). ASXL1 encodes a polycomb repressive complex protein implicated in chromatin regulation and de novo mutations are a known cause of BOS. Phenotypes with segmental craniofacial overgrowth associated to midline capillary malformations enlarge the clinical spectrum of BOS at onset and further expand the differential diagnosis in ASXL1 mutation carriers.

Radiological findings of Posterior Reversible Encephalopathy Syndrome in transplanted children previous affected by hemoglobinopathy: A neuroimaging retrospective analysis.

To evaluate, by Magnetic Resonance Imaging, if there is a typical pattern or severity of PRES in transplanted children for hemoglobinopathy. Secondary point was to investigate the pattern and severity of PRES in children with thalassemia-THAL and sickle-cell disease-SCD after autologous hematopoietic stem cell transplantation (aHSCT). Finally, we evaluate the presence of atypical PRES presentation and the involved area of central nervous system. Two neuroradiologists analyzed retrospectively MRI of 21 transplanted children for THAL or SCD treated with CI, with neurological symptoms and signs of PRES. The Bartynski and Boardman classification has been used for PRES pattern while McKinney scale for PRES severity. Fisher Exact Probability test or Chi-square test were used to compare the categorical data. In the 21 transplanted children the PRES severity was typically mild (85.7%) without preferring radiological pattern at MRI. The analysis didn't show significant association between PRES pattern or PRES severity and previous hemoglobinopathy (THAL or SCD). No atypical PRES presentation has been found. PRES severity in transplanted children for hemoglobinopathy is typically mild. Notwithstanding children affected by SCD have a damage on the capillary endothelium, after aHSCT our data didn't show a different PRES severity and pattern than THAL children.

Accuracy of advanced CT imaging in prediction of functional outcome after endovascular treatment in patients with large-vessel occlusion.

BACKGROUND AND PURPOSE: Computed tomography perfusion (CTP) and multiphase CT angiography (mCTA) help selection for endovascular treatment (EVT) in anterior ischemic stroke (AIS). Our aim was to investigate the ability of perfusion maps and collateral score to predict functional outcome after EVT. PATIENTS AND METHODS: Patients with M1-middle cerebral artery occlusion, evaluated by mCTA and CTP and treated with EVT within six hours of onset, were enrolled. Perfusion parametric maps of cerebral blood flow (CBF), cerebral blood volume (CBV) and time to maximum of tissue residue function ( Tmax) were generated; areas of altered perfusion were manually outlined to obtain volumes CBFv, CBVv, Tmax,v16-25s and Tmax,v9.5-25s . Diffusion-weighted imaging (DWI) at 24-36 hours was used to manually outline the ischemic core (volume: DWIv). Collateral vessels were assessed on mCTA considering extent and delay of maximal enhancement (six-point scale). Functional outcome was evaluated by modified Rankin Scale score at three months. Volumes in good and poor outcome groups were compared by Wilcoxon rank-sum test t, and their discriminative ability for outcome was determined by receiver operating characteristic analysis. A logistic regression model, including Tmax, CBF and collaterals, was used to differentiate good and poor outcome. RESULTS: Seventy-one patients (mean age 75 ± 11 years, range 45-99 years) were included. Tmax,v16-25s , Tmax,v9.5-25s , CBVv, CBFv and DWIv were statistically different between the two groups. CBF had the best discriminative value for good and poor outcome (area under the curve (AUC) 0.73; 64.5% sensitivity; 74.4% specificity); the logistic regression model might be promising (AUC 0.79, 64.5% sensitivity, 82.1% specificity). CONCLUSIONS: In patients with AIS, the combined use of CTP and mCTA predicts functional outcome of EVT and might allow better selection.

Bifid sternum in a young woman: Multimodality imaging features.

Bifid sternum is a rare fusion anomaly of the chest wall that accounts for 0.15% of all chest deformities and may be associated with cardiac or vascular anomalies. It is usually diagnosed and surgically corrected at birth or within the first month of life. Being a diagnosis made during the neonatal period, computed tomography scan and magnetic resonance imaging are not often performed; not so many cases in literature have been studied with II level diagnostic imaging, such as computed tomography or magnetic resonance. We describe a case of bifid sternum, rarely diagnosed in adults, discovered in a 21-year-old woman who came to our Diagnostic Imaging Department to perform a chest magnetic resonance after a chest X-ray.