Focal Lesions Research Articles

Intermediate cystinosis: a case report of 10-year treatment with cysteamine

BackgroundCystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases. Patients with intermediate cystinosis may not exhibit the typical symptoms of cystinosis, such as Fanconi syndrome and ocular symptoms. Because of its diverse clinical presentation and rarity, intermediate cystinosis can be difficult to diagnose. Additionally, few patients can tolerate cystine-depleting drugs, such as cysteamine, because of their complicated administration schedules and side effects. We report a case of intermediate cystinosis that was treated with cysteamine for 10 years.Case presentationUrinary abnormalities were first diagnosed when the patient was 3 years of age during a health examination specifically for 3-year-old children, which is unique to Japan. Cystinosis was diagnosed when the patient was 12 years of age. Cysteamine therapy was initiated and regular cystine concentration measurements were performed. Although proteinuria persisted, the patient’s renal function progressed slowly. Two renal biopsies were performed, and multinucleated podocytes and cystine crystals without focal segmental glomerulosclerosis lesions were observed in the biopsy specimens. The patient’s renal function remained stable.ConclusionsThis case of intermediate cystinosis was treated with cysteamine over the course of 10 years. Intermediate cystinosis requires an appropriate diagnosis and long-term treatment.

EVALUATION OF FOCAL BREAST LESIONS USING ULTRASOUND ELASTOGRAPHY

Breast lesions pose a significant diagnostic challenge, necessitating advanced imaging techniques for accurate characterization. Ultrasound elastography, including strain and shear wave methods, offers promising diagnostic capabilities for distinguishing between benign and malignant breast lesions. Objective: This study aimed to evaluate the effectiveness of ultrasound elastography in characterizing focal breast lesions and to compare the diagnostic performance of strain and shear wave elastography techniques. Methods: A prospective observational study was conducted, enrolling 200 women aged 18 and older with focal breast lesions detected on conventional ultrasound. Participants underwent both strain and shear wave elastography. Lesion characteristics, including stiffness scores and echogenicity, were documented. Histopathological analysis was performed on biopsied lesions to confirm diagnoses. Diagnostic accuracy metrics were calculated for both elastography techniques, including sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: The average age of participants was 52 ± 10 years. Most lesions were solid (70%), with an average size of 22 mm. Shear wave elastography exhibited higher stiffness scores (average 4.5) than strain elastography (average 3.2). Diagnostic accuracy for benign lesions showed a sensitivity of 85% and specificity of 90% with elastography. For malignant lesions, sensitivity was 90% and specificity was 85%. The ROC curve analysis indicated the superior performance of shear wave elastography with an AUC of 0.85 compared to 0.80 for strain elastography. Conclusion: Ultrasound elastography, particularly shear wave elastography, demonstrates high diagnostic accuracy in characterizing breast lesions, providing valuable support in clinical decision-making.

Quantitative diagnosis of carotid blowout syndrome with CT perfusion: Carotid blowout syndrome CTP quantitative diagnosis

Background and purposeCarotid blowout syndrome (CBS) is a potentially fatal disease. The CBS diagnosis mainly relies on subjective observations and the quantitative diagnotic method was not well established. This study aimed to diagnose CBS severity by computed tomography perfusion (CTP) parameters with different region-of-interest (ROI) models. Materials and MethodWe prospectively recruited CBS patients between February 1, 2018 and July 31, 2023 in a tertiary medical center, and CTP was performed using the same 128-detector CT machine. Digital subtraction angiography (DSA) and elective endovascular intervention were performed within 3 days post-CTP for diagnosis confirmation and treatments. CBS severity was classified into ongoing (threatened + impending) or acute CBS based on DSA findings and clinical features. Pericarotid soft-tissue (PCST) CTP parameters, including blood flow (BF), blood volume (BV), mean transit time (MTT) and flow extraction product (FEP), were evaluated and correlated on DSA. We depicted models A, B and C for the small focal lesion in 1 cm of PCST, 1 cm around PCST and the whole PCST respectively. ResultsCTP images of 110 patients (77 ongoing (45 threatened + 32 impending); 33 acute) were analyzed. Pericarotid BV (1.8 ± 1.2vs.3.5 ± 2.0; p < 0.001) in Model A and BF in Model B (42.6 ± 11.0vs.50.9 ± 20.4; p = 0.031) were lower in acute-CBS than in ongoing-CBS patients. Subgroup analysis demonstrated lower BV in acute (1.8 ± 1.2) compared with threatened (3.7 ± 2.3; p < 0.001; p < 0.001) and impending (3.2 ± 1.6; p = 0.009) CBS patients in Model A. ConclusionCBS severity can be quantitatively diagnosed by pericarotid soft-tissue CTP parameters. In Model A (small focus), BV was capable of differentiating acute CBS from other subtypes, demonstrating its potential role as a CBS imaging biomarker.

One Haemolytic Anaemia May Hide Another: Paroxysmal Nocturnal Haemoglobinuria Masquerading As Plasmodium Falciparum Infection.

Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, genetic and acquired haematologic disease that causes complement-mediated intravascular haemolytic anaemia, thrombosis and bone marrow failure. A 27-year-old migrant patient attended the emergency department in a context of fever and chills over the previous few days as well as chronic fatigue, dyspnoea and chest pain. His medical history included chronic anaemia and erectile dysfunction. Initial biology showed a haemoglobin of 6.3 g/dl, platelets of 25,000/μl, total leucocytes of 3,500/μl with 1,500 neutrophils. B12 vitamin, folic acid, ferritin and thyroid stimulating hormone were normal. Lactate dehydrogenase levels were high and haptoglobin was non-measurable. C-reactive protein was 46.1 mg/l. A thick blood smear revealed Plasmodium falciparum infection with 0.1% parasitaemia. The patient was treated with an oral combination of artemether and lumefantrine. Three weeks later, the patient consulted the infectious disease department given the lack of clinical improvement. The cytopenias worsened, and lactate dehydrogenase (LDH) and reticulocytes increased. Tests for schistocytes, a thick blood smear for malaria and a direct Coombs test were negative; a myelogram was reassuring. An abdominal, pelvic and thoracic CT scan showed a mild hepatomegaly with no focal lesion and no splenomegaly or adenomegaly. A 12-colour flow cytometry unveiled a PNH clone on 90.9545% of neutrophils and 80.7371% of monocytes. PNH patients can be vulnerable to parasites infection (such as P. falciparum) as it may trigger breakthrough haemolysis through uncontrolled resurgence of activity of the complement system. In our patient, P. falciparum infection was a confounding factor, as it commonly causes haemolytic anaemia and thrombocytopenia, and patients living in malaria-endemic regions can carry low parasitaemia while being slightly symptomatic or asymptomatic. Plasmodium falciparum infection can cause breakthrough haemolysis in patients with paroxysmal nocturnal haemoglobinuria.Low P. falciparum parasitemia in patients living in malaria-endemic regions is not always significant as these patients often carry acquired immunity.Patients from malaria-endemic regions presenting with severe sickness and low P. falciparum parasitemia must be assessed for other diseases, as it cannot explain heavy illness.Patients presenting with haemolytic anaemia, no schistocytes, a negative direct Coombs test and other unexplained cytopenia such as thrombocytopenia/neutropenia and other unexplained clinical manifestations such as dyspnoea, chest pain or erectile dysfunction should be assessed for paroxysmal nocturnal haemoglobinuria.

Dynamic contrast enhanced MRI of the head and neck region using a VIBE sequence with Cartesian undersampling and compressed sensing

ObjectivesCompressed sensing allows for image reconstruction from sparsely sampled k-space data, which is particularly useful in dynamic contrast enhanced MRI (DCE-MRI). The aim of the study was to assess the diagnostic value of a volume-interpolated 3D T1-weighted spoiled gradient-echo sequence with variable density Cartesian undersampling and compressed sensing (CS) for head and neck MRI. MethodsSeventy-one patients with clinical indications for head and neck MRI were included in this study. DCE-MRI was performed at 3 Tesla magnet using CS-VIBE (variable density undersampling, temporal resolution 3.4 s, slice thickness 1 mm). Image quality was compared to standard Cartesian VIBE. Three experienced readers independently evaluated image quality and lesion conspicuity on a 5-point Likert scale and determined the DCE-derived time intensity curve (TIC) types. ResultsCS-VIBE demonstrated higher image quality scores compared to standard VIBE with respect to overall image quality (4.3 ± 0.6 vs. 4.2 ± 0.7, p = 0.682), vessel contour (4.6 ± 0.4 vs. 4.4 ± 0.6, p < 0.001), muscle contour (4.4 ± 0.5 vs. 4.5 ± 0.6, p = 0.302), lesion conspicuity (4.5 ± 0.7 vs. 4.3 ± 0.9, p = 0.024) and showed improved fat saturation (4.8 ± 0.3 vs. 3.8 ± 0.4, p < 0.001) and movement artifacts were significantly reduced (4.6 ± 0.6 vs. 3.7 ± 0.7, p < 0.001). Standard VIBE outperformed CS-VIBE in the delineation of pharyngeal mucosa (4.2 ± 0.5 vs. 4.6 ± 0.6, p < 0.001). Lesion size in cases where a focal lesion was identified was similar for all readers for CS-VIBE and standard VIBE (p = 0.101). TIC curve assessment showed good interobserver agreement (k=0.717). ConclusionCS-VIBE with variable density Cartesian undersampling allows for DCE-MRI of the head and neck region with diagnostic, high image quality and high temporal resolution.

Quantitative MRI of a Cerebral Cryptococcoma Mouse Model for In Vivo Distinction between Different Cryptococcal Molecular Types.

The controversially discussed taxonomy of the Cryptococcus neoformans/Cryptococcus gattii species complex encompasses at least eight major molecular types. Cerebral cryptococcomas are a common manifestation of cryptococcal neurological disease. In this study, we compared neurotypical symptoms and differential neurovirulence induced by one representative isolate for each of the eight molecular types studied. We compared single focal lesions caused by the different isolates and evaluated the potential relationships between the fungal burden and properties obtained with quantitative magnetic resonance imaging (qMRI) techniques such as diffusion MRI, T2 relaxometry and magnetic resonance spectroscopy (MRS). We observed an inverse correlation between parametric data and lesion density, and we were able to monitor longitudinally biophysical properties of cryptococcomas induced by different molecular types. Because the MRI/MRS techniques are also clinically available, the same approach could be used to assess image-based biophysical properties that correlate with fungal cell density in lesions in patients to determine personalized treatments.

Comparison of adaptive imaging receiver coil and traditional coil for multiplexed sensitivity encoding diffusion-weighted imaging of the liver.

To compare the image quality and efficacy of the adaptive imaging receiver (AIR) coil (GE Healthcare) and the traditional coil for multiplexed sensitivity encoding diffusion-weighted imaging (MUSE-DWI) in the detection of focal liver lesions (FLLs). Two groups of MUSE-DWI were obtained. Image quality was qualitatively evaluated by 3 independent blinded radiologists on a 5-point scale, and quantitative parameters were calculated by measurements of the region of interest in the liver and FLLs. McNemar's test were used to compare the characteristics and detectability. Less image noise, sharper contours, milder susceptibility artefacts, and better liver lesion conspicuity were found by all radiologists in 60 livers with 140 FLLs with the AIR coil than with the traditional coil (reader average mean, 4.3-4.4 vs. 3.7-4.0, P < .001). The signal-to-noise ratio (SNR) of the liver was significantly higher with the AIR coil than with the traditional coil (right lobe: mean, 8.89 vs.7.76, P < .05; left lobe: mean, 7.14 vs.6.19, P < .001), and the SNR of FLLs (mean, 24.62 vs. 21.01, P < .001) and lesion-to-liver CNR (mean, 16.61 vs. 14.02, P < .001) exhibited significant differences between the AIR coil and the traditional coil. Besides, superior detection of FLLs was observed with the AIR coil compared to the traditional coil (95.7% [134/140] vs. 85.7% [120/140], P < .001). The AIR coil yields less noise, fewer distortions, better lesion detectability, higher SNR of the liver and FLLs, and improved lesion-to-liver CNR during liver MUSE-DWI. Thus, it is a feasible and effective scanning scheme in liver MRI. The AIR coil improves SNR and the quality of liver MR imaging compared with the traditional coil.

WFUMB Review Paper. Incidental Findings in Otherwise Healthy Subjects, How to Manage: Liver.

An incidental focal liver lesion (IFLL) is defined as a hepatic lesion identified in a patient imaged for an unrelated reason. They are frequently encountered in daily practice, sometimes leading to unnecessary, invasive and potentially harmful follow-up investigations. The clinical presentation and the imaging aspects play an important role in deciding if, and what further evaluation, is needed. In low-risk patients (i.e., without a history of malignant or chronic liver disease or related symptoms), especially in those younger than 40 years old, more than 95% of IFLLs are likely benign. Shear Wave liver Elastography (SWE) of the surrounding liver parenchyma should be considered to exclude liver cirrhosis and for further risk stratification. If an IFLL in a low-risk patient has a typical appearance on B-mode ultrasound of a benign lesion (e.g., simple cyst, calcification, focal fatty change, typical hemangioma), no further imaging is needed. Contrast-Enhanced Ultrasound (CEUS) should be considered as the first-line contrast imaging modality to differentiate benign from malignant IFLLs, since it has a similar accuracy to contrast-enhanced (CE)-MRI. On CEUS, hypoenhancement of a lesion in the late vascular phase is characteristic for malignancy. CE-CT should be avoided for characterizing probable benign FLL and reserved for staging once a lesion is proven malignant. In high-risk patients (i.e., with chronic liver disease or an oncological history), each IFLL should initially be considered as potentially malignant, and every effort should be made to confirm or exclude malignancy. US-guided biopsy should be considered in those with unresectable malignant lesions, particularly if the diagnosis remains unclear, or when a specific tissue diagnosis is needed.

The role of CEUS as problem-solving technique when abdominal CT or MRI are inconclusive

PurposeTo evaluate the role of CEUS in the characterization of abdominal lesions compared to CT and MRI and whether it could be “problem-solving” when CT and/or MRI are inconclusive or contraindicated.MethodsA retrospective study was conducted on 39 patients (22 males; mean age: 64 years) with one or more abdominal focal lesions (total: 41; mean diameter: 2.9 cm) who underwent CEUS, had already undergone CT/MRI without a definitive diagnosis or had not undergone them due to contraindications. The frequency, out of the total lesions included, in which CEUS was problem-solving, confirmatory or inconclusive was evaluated.ResultsCEUS proved to be problem-solving for 20/41 (48.8%) lesions, confirmatory for 17/41 (41.5%) lesions and inconclusive for 4/41 (9.7%) lesions. Including problem-solving and confirmatory diagnosis, CEUS correctly identified 24/27 (88.9%) liver lesions, 11/11 (100%) kidney lesions, a gallbladder and a pancreatic lesion, while it did not provide useful information for 4/41 (9.7%) lesions, specifically three liver lesions and a testicular one.ConclusionsCEUS is a promising technique when CT and/or MRI are inconclusive or contraindicated and to increase the radiologist’s diagnostic confidence.

Dynamic Expansion and Contraction of Multiple Sclerosis T2-weighted Hyperintense Lesions are Present Below the Threshold of Visual Perception.

The study of T2-weighted hyperintense lesions resulting from autoimmune inflammatory injury and associated volumes within the CNS remains fundamental to the diagnosis and disease surveillance of multiple sclerosis (MS). We investigated the dynamic changes of individual T2-weighted hyperintense MS lesions on MRI and hypothesized that variations may be present below the threshold of visual perception when evaluating longitudinal data. A retrospective study was performed of people with MS, incorporating data from three consecutive MRI time points acquired within a single academic center. All included MRI studies lacked formal imaging interpretations of newly enlarging or contracting T2-weighted hyperintensities. Well defined, non-coalescing, individual T2-weighted hyperintense lesions were targeted. A total of 8-12 lesions were randomly selected in a blinded fashion at MRI time point 1 and 3-dimensional lesion volumes followed over MRI time points 2 and 3. The impact of treatment on lesion expansion and relationship to brain MRI advancement, patient-reported progression of disease, and physician-identified progression was also studied. The study cohort was comprised of 115 people (81 (70.4%) female; mean disease duration of 6.62 years(y) (standard deviation: 6.68y)) who were primarily White (79.1%). A total of 1,426 focal T2-weighted hyperintense MS lesions were identified on MRI time point 1 and longitudinally followed over MRI time points 2 and 3. In the evaluation of raw changes in individual T2-weighted hyperintense lesion volumes from MRI time point 1 to MRI time point 2, a similar number of individuals were observed with predominantly expanding (49/115; 42.6%) or contracting (51/115; 44.3%) lesions. However, the majority of lesions expanded in volume (48/115; 41.7%) versus those that contracted (45/115; 39.1%) when evaluating MRI time point 3 to time point 1. Those individuals not on active treatment had a 67.15% reduction in the odds of more individual lesions predominantly contracting in volume relative to those on low-efficacy disease modifying therapy treatment (95% CI=[-83.89, -33.01], p=0.0008) and 74.02% reduction for those on high-efficacy treatment (95% CI=[-87.37%,-46.56%], p<0.0001). Dynamic changes in T2-weighted hyperintense lesions are abundant, occurring below the threshold of visual perception and are present more frequently in untreated individuals. MS = multiple sclerosis; DMT = disease modifying therapy; 2D = 2-dimensional; 3D = 3-dimensional; LMS = Lambda, Mu, and Sigma.

Focal liver lesion diagnosis with deep learning and multistage CT imaging

Diagnosing liver lesions is crucial for treatment choices and patient outcomes. This study develops an automatic diagnosis system for liver lesions using multiphase enhanced computed tomography (CT). A total of 4039 patients from six data centers are enrolled to develop Liver Lesion Network (LiLNet). LiLNet identifies focal liver lesions, including hepatocellular carcinoma (HCC), intrahepatic cholangiocarcinoma (ICC), metastatic tumors (MET), focal nodular hyperplasia (FNH), hemangioma (HEM), and cysts (CYST). Validated in four external centers and clinically verified in two hospitals, LiLNet achieves an accuracy (ACC) of 94.7% and an area under the curve (AUC) of 97.2% for benign and malignant tumors. For HCC, ICC, and MET, the ACC is 88.7% with an AUC of 95.6%. For FNH, HEM, and CYST, the ACC is 88.6% with an AUC of 95.9%. LiLNet can aid in clinical diagnosis, especially in regions with a shortage of radiologists.

Training on contrast-enhanced ultrasound LI-RADS classification for resident radiologists: a retrospective comparison of performance after training

ObjectivesTo evaluate the effects and benefits of training radiology residents on contrast-enhanced ultrasound (CEUS) according to the Liver Imaging Reporting and Data System (LI-RADS).MethodsIn total, 234 patients at high risk of hepatocellular carcinoma (HCC) who underwent CEUS were enrolled, including 27 lesions in the education set and 207 lesions in the test sets (a–d). Forty-five radiology residents and 4 radiology experts involved in CEUS LI-RADS training individually reviewed the test sets before, immediately after, and 3-months after training. The consistency with kappa values of the description of CEUS features, the classification of focal liver lesions (FLLs), and the diagnostic performance were evaluated.ResultsThe level of agreement between the radiology experts and residents improved after training (all p < 0.05), while there were no significant differences between the post-training and 3-months post-training results (all p > 0.05). The sensitivity, specificity, positive predictive value, and area under the curve (AUC) based on the CEUS LI-RADS classification of the radiology experts in the diagnosis of HCC were 62.9%, 96.4%, 96.3%, and 0.796, respectively. The diagnostic performance of the radiology residents significantly improved after training (all p < 0.05). Misunderstanding of definitions and subjective interpretation of images were the main reasons for disagreement with multiple responses.ConclusionDedicated CEUS LI-RADS training improved the performance of radiology residents in diagnosing FLLs and their agreement with radiology experts on CEUS features. Images and videos to explain typical features of the training were essential to improve agreement between the radiology experts and residents.Critical relevance statementAgreement on lesion descriptors between radiology experts and residents can improve with training.Key PointsThe diagnostic performance of less experienced radiologists for diagnosing HCC could be improved by training.Images and videos to explain typical features during training were essential.Agreement on lesion descriptors between radiology experts and residents improved after training.Graphical

Retigabine, a potassium channel opener, restores thalamocortical neuron functionality in a murine model of autoimmune encephalomyelitis

BackgroundMultiple Sclerosis (MS) is an autoimmune neurodegenerative disease, whose primary hallmark is the occurrence of inflammatory lesions in white and grey matter structures. Increasing evidence in MS patients and respective murine models reported an impaired ionic homeostasis driven by inflammatory-demyelination, thereby profoundly affecting signal propagation. However, the impact of a focal inflammatory lesion on single-cell and network functionality has hitherto not been fully elucidated. ObjectivesIn this study, we sought to determine the consequences of a localized cortical inflammatory lesion on the excitability and firing pattern of thalamic neurons in the auditory system. Moreover, we tested the neuroprotective effect of Retigabine (RTG), a specific Kv7 channel opener, on disease outcome. MethodsTo resemble the human disease, we focally administered pro-inflammatory cytokines, TNF-α and IFN-γ, in the primary auditory cortex (A1) of MOG35-55 immunized mice. Thereafter, we investigated the impact of the induced inflammatory milieu on afferent thalamocortical (TC) neurons, by performing ex vivo recordings. Moreover, we explored the effect of Kv7 channel modulation with RTG on auditory information processing, using in vivo electrophysiological approaches. ResultsOur results revealed that a cortical inflammatory lesion profoundly affected the excitability and firing pattern of neighboring TC neurons. Noteworthy, RTG restored control-like values and TC tonotopic mapping. ConclusionOur results suggest that RTG treatment might robustly mitigate inflammation-induced altered excitability and preserve ascending information processing.

Role of endoscopic ultrasound guided fine needle aspiration and biopsy in the evaluation of focal liver lesions

Role of endoscopic ultrasound guided fine needle aspiration and biopsy in the evaluation of focal liver lesions

Optic Atrophy From Retrograde Transsynaptic Axonal Degeneration Following Pediatric Brain Injury.

The patterns of optic atrophy due to retrograde transsynaptic degeneration (RTSD) have not been well characterized in children. This study aimed to characterize optic atrophy in pediatric patients with focal intracerebral lesions. A retrospective review of children with optic atrophy and focal intracerebral lesions was conducted. Ophthalmic data were recorded, including visual acuity, color vision, formal automated visual fields and optical coherence tomography (OCT) of the peripapillary retinal nerve fiber layer (pRNFL) and ganglion cell layer. Six patients (83.33% male) were included. The mean visual acuity (VA) of all eyes was 0.30 logMAR (20/40 Snellen), with no significant difference in the mean logMAR VA in the ipsilateral eye to the location of the lesion compared with the contralateral eye (0.30 vs 0.30, P = 1.000). Color vision (available in 5 patients) was normal in 2, mildly reduced in one and markedly reduced in 2. Bitemporal optic disc pallor was observed in 5 out of 6 patients. OCT data revealed that pRNFL thickness was most significantly diminished in the temporal (95% CI: -44.71 to -14.18 µm, P = 0.0021), inferotemporal (95% CI: -75.06 to -5.17 µm, P = 0.0294), and superotemporal (95% CI: -76.82 to -18.51 µm, P = 0.0055) sectors. Average pRNFL thickness was significantly reduced compared with normative data in both the ipsilateral (95% CI: -40.76 to -11.69 µm, P = 0.0003) and the contralateral eye (95% CI: -38.46 to -5.83 µm, P = 0.0063). When only nasal and temporal data were analyzed, mean pRNFL thickness was still diminished compared with normative data (95% CI: -33.01 to -9.77 µm, P = 0.0012). Children presenting with optic atrophy, particularly with bitemporal optic atrophy, should have neuroimaging to exclude any underlying serious intracranial pathology.

Washout-parametric imaging with Sonazoid for enhanced differentiation of focal liver lesions.

The study aimed to compare the diagnostic performance of washout-parametric imaging (WOPI) with that of conventional contrast-enhanced ultrasound (cCEUS) in differentiating focal liver lesions (FLLs). A total of 181 FLLs were imaged with contrast-enhanced ultrasound using Sonazoid, and the recordings were captured for 10 minutes in a prospective setting. WOPI was constructed from three images, depicting the arterial phase (peak enhancement), the early portal venous phase (1-minute post-injection), and the vasculo-Kupffer phase (5 or 10 minutes post-injection). The intensity variations in these images were color-coded and superimposed to produce a single image representing the washout timing across the lesions. From the 181 FLLs, 30 hepatocellular carcinomas (HCCs), 30 non-HCC malignancies, and 30 benign lesions were randomly selected for an observer study. Both techniques (cCEUS and WOPI) were evaluated by four off-site readers. They classified each lesion as benign or malignant using a continuous rating scale, with the endpoints representing "definitely benign" and "definitely malignant." The diagnostic performance of cCEUS and WOPI was compared using the area under the receiver operating characteristic curve (AUC) with the DeLong test. Interobserver agreement was assessed using the intraclass correlation coefficient (ICC). The difference in average AUC values between WOPI and cCEUS was 0.0062 (95% confidence interval, -0.0161 to 0.0285), indicating no significant difference between techniques. The interobserver agreement was higher for WOPI (ICC, 0.77) than cCEUS (ICC, 0.67). The diagnostic performance of WOPI is comparable to that of cCEUS in differentiating FLLs, with superior interobserver agreement.

Breast multiparametric ultrasound: a single-center experience.

To evaluate the role of multiparametric ultrasound (mpUS) in the characterization of focal breast lesions (FBLs). This prospective study enrolled patients undergoing multiparametric breast ultrasound for FBLs. An experienced breast radiologist evaluated the following ultrasound features: US BI-RADS category, vascularization pattern (internal, vessels in rim and combined) and presence of penetrating vessels with each Doppler method (Color-Doppler, Power-Doppler, Microvascular imaging), strain ratio (SR) and Tsukuba score (TS) with Strain Elastography (SE), Emax, Emean, Emin and Eratio with 2D-shear wave elastography (2D-SWE). Core biopsy for all BI-RADS 4-5 FBLs and 24-month follow-up for all BI-RADS 2-3 FBLs were considered for standard of reference. The diagnostic performance was assessed with the area under curve (AUCs) and cut-off values were determined according to the Youden's index. A total of 139 FBLs were included with 75/139 (53.9%) benign and 64/139 (46.1%) malignant FBLs. Internal vascularization patterns (p < 0.001), penetrating vessels (p < 0.001), TS 4-5 (p < 0.001) and all 2D-SWE parameters (p < 0.001) were significantly different between benign and malignant FBLs. The BI-RADS score provided an AUC of 0.876 (95% CI 0.810-0.926) for the diagnosis of malignant FBLs. Among the 2D-SWE measurements, an excellent diagnostic performance was observed for Emax with an AUC of 0.915 (95% CI 0.856-0.956) and Emean of 0.908 (95% CI 0.847-0.951). Optimal cutoff for the diagnosis of malignant FBLs were US BI-RADS > 3, Strain Ratio > 2.52, Tsukuba Score > 3, Emax > 82.6kPa, Emean > 66.0kPa, Emin > 54.4kPa and Eratio > 330.8. Multiparametric ultrasound, particularly SWE, can improve specificity in the characterization of FBLs.

Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice

Progressive Rod-Cone Degeneration (PRCD) is an integral membrane protein found in photoreceptor outer segment (OS) disc membranes and its function remains unknown. Mutations in Prcd are implicated in Retinitis pigmentosa (RP) in humans and multiple dog breeds. PRCD-deficient models exhibit decreased levels of cholesterol in the plasma. However, potential changes in the retinal cholesterol remain unexplored. In addition, impaired phagocytosis observed in these animal models points to potential deficits in the retinal pigment epithelium (RPE). Here, using a Prcd−/− murine model we investigated the alterations in the retinal cholesterol levels and impairments in the structural and functional integrity of the RPE. Lipidomic and immunohistochemical analyses show a 5-fold increase in the levels of cholesteryl esters (C.Es) and lipid deposits in the PRCD-deficient retina, respectively, indicating alterations in total retinal cholesterol. Furthermore, the RPE of Prcd−/− mice exhibit a 1.7-fold increase in the expression of lipid transporter gene ATP-binding cassette transporter A1 (Abca1). Longitudinal fundus and spectral domain optical coherence tomography (SD-OCT) examinations showed focal lesions and RPE hyperreflectivity. Strikingly, the RPE of Prcd−/− mice exhibited age-related pathological features such as lipofuscin accumulation, Bruch's membrane (BrM) deposits and drusenoid focal deposits, mirroring an Age-related Macular Degeneration (AMD)-like phenotype. We propose that the extensive lipofuscin accumulation likely impairs lysosomal function, leading to the defective phagocytosis observed in Prcd−/− mice. Our findings support the dysregulation of retinal cholesterol homeostasis in the absence of PRCD. Further, we demonstrate that progressive photoreceptor degeneration in Prcd−/− mice is accompanied by progressive structural and functional deficits in the RPE, which likely exacerbates vision loss over time.

The Motor Optimality Score-Revised Improves Early Detection of Unilateral Cerebral Palsy in Infants with Perinatal Cerebral Stroke.

Neonatal cerebral stroke includes a range of focal and multifocal ischemic and hemorrhagic brain lesions, occurring in about one of 3000 live births. More than 50% of children with neonatal stroke develop adverse outcomes, mainly unilateral cerebral palsy. Asymmetries in segmental movements at three months have been proven to be an early sign of CP in infants with unilateral brain damage. Recognition of additional early signs could enhance prognostic assessment and enable an early and targeted intervention. The aim of the study was to assess early signs of CP in infants with arterial cerebral stroke through the General Movements Assessment and the Motor Optimality Score-Revised (MOS-R). Twenty-four infants born at term (12 females and 12 males) diagnosed with ACS, and 24 healthy infants (16 females and 8 males) were assessed. The GMs (fidgety movements) and MOS-R were assessed from videos recorded at 11-14 weeks of post-term age. Cognitive and motor outcomes were assessed at 24 months using the Griffiths III developmental quotient and Amiel-Tison neurological examination. The gross motor function classification system expanded and revised (GMFCS-E&R) was adopted to categorize CP. Among infants with ACS, 21 (87.5%) developed unilateral CP. Most of them showed non-disabling CP (14 had GMFCS-E&R grade 1 [66.6%], 6 grade 2 [28.6%], and 1 grade 5 [4.8%]). Fidgety movements (FMs) were absent in 17 (70.8%), sporadic in 4 (16.7%) infants, and normal in 3 (12.5%). Segmental movement asymmetry was found in 22/24 (91.7%). According to the MOS-R, motor items (kicking, mouth movements), postural patterns (midline centered head, finger posture variability), and movement character (monotonous and stiff) were statistically different among infants with ACS and healthy infants. The MOS-R median global score was lower in the group with ACS compared to the control group (6 vs 26; p < 0.01). FMs, segmental movement asymmetry, and MOS-R global score were significantly correlated with abnormal outcome. MOS-R global scores less than or equal to 13 had 100% specificity and sensitivity in predicting GMFCS-E&R grade ≥ 2 CP in infants with ACS. The rate of CP was high among infants with ACS, but in most cases it showed low GMFCS-E&R grades. The study highlighted a significant correlation between MOS-R, together with absent FMs and unilateral CP in infants with ACS. Moreover, the MOS-R showed high sensitivity and specificity in the prediction of CP. Combined assessment of FMs and MOS-R could help to better identify infants at high risk of developing UCP in a population of infants with ACS. Early identification of precocious signs of unilateral CP is fundamental to providing an early individualized intervention.

A diagnostic model for differentiating tuberculous spondylodiscitis from pyogenic spondylodiscitis based on pathogen-confirmed patients.

This study aimed to distinguish tuberculous spondylodiscitis (TS) from pyogenic spondylodiscitis (PS) based on laboratory, magnetic resonance imaging (MRI) and computed tomography (CT) findings. Further, a novel diagnostic model for differential diagnosis was developed. We obtained MRI, CT and laboratory data from TS and PS patients. Predictive models were built using binary logistic regression analysis. The receiver operating characteristic curve was analyzed. Both internal and external validation was performed. A total of 81 patients with PS (n = 46) or TS (n = 35) were enrolled. All patients had etiological evidence from the focal lesion. Disc signal or height preservation, skip lesion or multi segment (involved segments ≥ 3) involvement, paravertebral calcification, massive sequestra formation, subligamentous bone destruction, bone erosion with osteosclerotic margin, higher White Blood Cell Count (WBC) and positive result of tuberculosis infection T cell spot test (T-SPOT.TB) were more prevalent in the TS group. A diagnostic model was developed and included four predictors: WBC<7.265 * (10^9/L), skip lesion or involved segments ≥ 3, massive sequestra formation and subligamentous bone destruction. The model showed good sensitivity, specificity, and total accuracy (91.4%, 95.7%, and 93.8%, respectively); the area under the receiver operating characteristic curve (AUC) was 0.981, similar to the results of internal validation using bootstrap resampling (1000 replicates) and external validation set, indicating good clinical predictive ability. This study develop a good diagnostic model based on both CT and MRI, as well as laboratory findings, which may help clinicians distinguish between TS and PS.