MRI Results Research Articles

Precision Imaging in Neurodegeneration: The Superiority of Diffusion Tensor Imaging Over Conventional MRI in Differentiating Parkinson's Disease From Atypical Parkinsonian Syndromes.

Background Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the degeneration of dopaminergic neurons in the substantia nigra, leading to motor and non-motor symptoms. Atypical parkinsonian syndromes (APS), including progressive supranuclear palsy (PSP) and essential tremor (ET), present with overlapping clinical features, making differential diagnosis challenging. Conventional MRI has limitations in distinguishing PD from APS, necessitating advanced imaging techniques like diffusion tensor imaging (DTI) for more accurate diagnosis. Objectives This retrospective study aimed to evaluate the diagnostic accuracy of DTIin diagnosing PDand APS, particularly assessing its ability to differentiate these conditions from each other compared to conventional MRI. Additionally, the study sought to determine if DTI could diagnose PD in cases where conventional MRI results were normal, thereby highlighting the potential role of DTI in enhancing diagnostic precision in neurodegenerative disorders. Methodology The study included 30 patients with clinically diagnosed PD or APS who underwent both conventional MRI and DTI. Data were collected retrospectively. Imaging was performed using a Philips Multiva 1.5-Tesla MRI scanner (Philips, Amsterdam, Netherlands). DTI sequences were analyzed for fractional anisotropy (FA)values in the substantia nigra, superior cerebellar peduncle, middle cerebellar peduncle, transverse pontine fibers, and dentate nucleus. The FA values were compared with established normal values, and the findings from DTI were correlated with clinical diagnoses and conventional MRI results. Results Among the 30 patients, 53.3% were clinically diagnosed with PDand 46.7% with APS, including PSP and ET. Conventional MRI findings were normal in 46.7% of cases, indicating its limitations in detecting early or subtle changes in neurodegenerative disorders. In contrast, DTI identified abnormalities in 83.3% of cases, demonstrating its superior diagnostic sensitivity. DTI detected significant FA value reductions in the substantia nigra in PD patients (mean FA: 0.440), which is consistent with the degeneration of dopaminergic neurons characteristic of PD. In PSP patients, the superior cerebellar peduncle showed marked FA reductions (mean FA: 0.523), correlating with the clinical features of PSP, such as bradykinesia and postural instability. ET was identified by reduced FA values in the superior cerebellar peduncle and dentate nucleus, distinguishing it from other forms of parkinsonism. DTI was particularly effective in cases where conventional MRI results were inconclusive or normal, identifying early-stage PD and differentiating it from APS with greater accuracy. The study demonstrated a sensitivity of 95.8% and specificity of 93.8% for DTI in differentiating PD from APS compared to conventional MRI. Conclusion This study highlights DTI as a superior imaging modality for the early diagnosis and differentiation of parkinsonian disorders, particularly when conventional MRI results are inconclusive. DTI's ability to detect significant microstructural changes in specific brain regions, evidenced by FA value reductions, enhances diagnostic accuracy. Incorporating DTI into routine clinical practice is essential for accurate differentiation between PD and APS, facilitating better patient management.

Clinical Phenotypes and Etiological Risk Factors in Children with Cerebral Palsy: A Retrospective Study

Background: Cerebral palsy is a motor impairment syndrome that arises from a lesion in the developing brain. The condition varies based on the timing of the lesion, as well as differences in clinical presentation, location, and severity. Objectives: The aim of this study is to determine the clinical features of patients with cerebral palsy, identify the associated risk factors, and analyze cranial MRI findings in relation to the different types of cerebral palsy. Methods: This study retrospectively evaluated the medical records of children diagnosed with cerebral palsy. Data collected included demographic information, details of potential relevant abnormalities during pregnancy, birth, and the neonatal period, comorbidities, types of cerebral palsy, cranial MRI findings, and classifications of motor impairments. Results: The mean age of the 202 patients with cerebral palsy in the study was 8.02 years, with a male predominance (60.4%). The most common type of cerebral palsy observed was spastic cerebral palsy, accounting for 81.6% of the cases. The most frequent cranial MRI finding was white matter damage of immaturity, present in 36.1% of the patients, while 8.4% of the cases had normal cranial MRI results. Epilepsy was the most common comorbidity, affecting 50.5% of the patients. White matter damage of immaturity was most commonly associated with spastic diparesis, and the identified risk factors for these patients included prematurity, low birth weight, oligohydramnios, multiple pregnancy, and neonatal sepsis/meningitis. Spastic tetraparesis was most frequently linked to miscellaneous MRI findings, with risk factors such as term birth, normal birth weight, polyhydramnios, asphyxia/resuscitation, and a history of neonatal convulsions. Focal infarction/hemorrhage was most often associated with spastic hemiparesis, while basal ganglia-thalamus damage was frequently seen in patients with choreoathetotic and dystonic cerebral palsy. In patients with dystonic cerebral palsy, vaginal delivery and a history of hyperbilirubinemia were identified as common risk factors. Cerebellar damage and malformations were most frequently associated with ataxic cerebral palsy. Conclusions: In this study, it was determined that MRI findings can serve as a valuable guide for identifying different types of cerebral palsy. Additionally, the risk factors, disease severity, and accompanying comorbidities were found to vary according to the specific type of cerebral palsy.

A comparison of infectious and autoimmune meningoencephalitis: Clinical presentation, biochemical markers and MRI findings

Objective: This study investigates distinguishing patterns in lesion distribution, relevant clinical presentation and biochemical markers in MRI to differentiate infective encephalitis (IE) and autoimmune encephalitis (AE). Methods: Retrospective study of adult patients with a confirmed diagnosis of IE and AE admitted to the Neurology unit from January 2012 to December 2020 with MRI Brain. Selected cases with confirmed IE (according to the 2013 Infective Encephalitis Consortium diagnostic criteria) or antibody-positive AE (detection of Neuronal auto-antibody from blood or CSF), coupled by clinical presentation. MRI brain lesion distribution, lobar involvement, enhancement, haemorrhage, vasculopathy and atrophy were analysed. Results: Forty-seven patients (21 IE and 26 AE, respectively) were selected. IE group are older (48.0 ± 16.81) compared to AE (28.4 ± 14.10). Fever and vomiting were significant in IE (p<0.001), whereas psychosis, seizure, movement disorder, and tumour (ovarian teratoma) were significant in the AE cohort. Cerebrospinal fluid (CSF) analysis showed elevated leucocytes with polymorphism and high protein levels in IE (2.081 g/L ± 2.93 vs AE (0.352g/L ± 0.18). MR imaging detected abnormal findings in 61.9% of cases with infectious encephalitis (IE), while 76.9% of cases with autoimmune encephalitis (AE) exhibited normal MRI results. Asymmetrical lesions and inferior frontal lobe distribution (57.1%) were significantly prevalent in IE (p<0.05). Enhancement patterns and haemorrhage were rarely observed in AE patients. Conclusion: IE presented at an older age, with the majority having MRI findings such as asymmetrical lesions, leptomeningeal enhancement, and involvement of medial temporal, hippocampus and inferior frontal cortex. IE clinically presents with fever, vomiting, and elevated CSF leucocytes and protein levels. AE presents at a younger age with seizure, psychosis, movement disorder, tumour (ovarian teratoma). Fewer AE have MRI findings, and if present, tend to be symmetrical in distribution. Lobar involvement in the inferior frontal was the MRI feature that significantly favoured the diagnosis of IE compared to AE. IE and AE have distinct clinical, biochemical, and MRI abnormalities that can be discriminated between the 2 entities.

Automated Breast Ultrasound for Evaluating Response to Neoadjuvant Therapy: A Comparison with Magnetic Resonance Imaging.

Background: Neoadjuvant chemotherapy (NAC) is currently used for treating breast cancer in selected cases. Our study aims to evaluate the role of automated breast ultrasound (ABUS) in the assessment of response to NAC and compare the ABUS results with MRI. Methods: A total of 52 consecutive patients were included in this study. ABUS and MRI sensitivity (SE), specificity (SP), diagnostic accuracy (DA), positive predictive value (PPV), and negative predictive value (NPV) were calculated and represented using Area Under ROC Curve (ROC) analysis, searching for any significant difference (p < 0.05). The McNemar test was used searching for any significant difference in terms of sensitivity by comparing the ABUS and MRI results. The inter-observer agreement between the readers in evaluating the response to NAC for both MRI and ABUS was calculated using Cohen's kappa k coefficient. Results: A total of 35 cases of complete response and 17 cases of persistent disease were found. MRI showed SE, SP, DA, PPV, and NPV values of 100%, 88%, 92%, 81%, and 100%, respectively, with an AUC value of 0.943 (p < 0.0001). ABUS showed SE, SP, DA, PPV, and NPV values of 88%, 94%, 92%, 89%, and 94%, respectively, with an AUC of 0.913 (p < 0.0001). The McNemar test revealed no significant difference (p = 0.1250). The inter-observer agreement between the two readers in evaluating the response to NAC for MRI and ABUS was, respectively, 0.88 and 0.89. Conclusions: Automatic breast ultrasound represents a new accurate, tri-dimensional and operator-independent tool for evaluating patients referred to NAC.

Визначення предикторів стійких порушень серцевого ритму у військовослужбовців із тяжким перебігом міокардиту

The aim – to study heart rhythm and conduction disturbances in different localization and distribution of myocardial lesions in combatants with severe myocarditis based on the results of a 6-month follow-up.Materials and methods. 46 male military personnel with a severe course of acute myocarditis (AM) with a reduced ejection fraction (EF) of the left ventricle (LV) (≤ 40 %) with an average age of (35,1±2,4) years were examined. Examinations were carried out in the 1st month after the onset of symptoms of myocarditis and after 6 months of observation. The diagnosis of myocarditis and the severe course of the disease were established on the basis of the Recommendations for the diagnosis and treatment of myocarditis of the All-Ukrainian Association of Cardiologists of Ukraine. All patients underwent for 24-hour ECG monitoring with analysis of the frequency and spectrum of rhythm and conduction disturbances and cardiac magnetic resonance (CMR) imaging with contrast analysis of the topography of the lesion and counting the number of LV segments affected by inflammatory changes and LV segments with the presence of late gadolinium enhancement (LGE).Results and discussion. When comparing the results of heart MRI with the data of daily ECG monitoring, a clear association of the presence of frequent ventricular extrasystoles (VE) and paroxysms of non-sustained ventricular tachycardia (NSVT) with the localization of LGE in the interventricular septum (IS) was established – among patients with LGE lesions at the onset of AM more than in a third (37.0 %) had frequent VE, and NSVT paroxysms, which increase the risk of developing life-threatening ventricular arrhythmias, were detected in 25,9 % of cases. After 6 months of observation in the presence of LGE in the IS, the frequency of detection of frequent VE and NSVT paroxysms was also significantly higher compared to other localization of the lesion and amounted to 20,0 and 13,3 %, respectively. With the help of correlation analysis, an associative relationship was revealed between the presence of LGE in the IS and the presence of frequent VE and NSVT paroxysms in the debut of myocarditis – r=0.73 (р&lt;0.01) and r=0.66 (р&lt;0,01) respectively, and also after 6 months of observation – r=0.65 (р&lt;0.01) and r=0.59 (р&lt;0.05), respectively. According to the results of the multivariate regression analysis, predictors of frequent VE persistence after 6 months were: LVEF ≤30 %; LV end-diastolic volume index ≥105 ml/m2; presence of inflammatory changes in ≥5.0 LV segments; presence of LGE in ≥4.0 LV segments and its presence in the IS, determined in the 1st month from the onset of the disease. The predictors NSVT paroxysms persistence after 6 months were the same factors with the exception of LV EF, and, according to the value of the β coefficient (β=1.302; p&lt;0.001), the most significant contribution was the presence of LGE in the IS.Conclusions. In combatants with severe myocarditis, the presence of late gadolinium enhancement in the interventricular septum is an additional risk factor for the persistence of frequent ventricular extrasystoles and paroxysms of non-sustained ventricular tachycardia during 6 months, while the presence of late gadolinium enhancement in the posterior and lateral walls of the left ventricle has no reliable relationship with the presence of rhythm and conduction disorders. On the basis of multivariate regression analysis, predictors of frequent ventricular extrasystoles and paroxysms of non-sustained ventricular tachycardia persistence were established in combatants with myocarditis.

Longitudinal Imaging of Injured Spinal Cord Myelin and White Matter with 3D Ultrashort Echo Time Magnetization Transfer (UTE-MT) and Diffusion MRI.

Quantitative MRI techniques could be helpful to noninvasively and longitudinally monitor dynamic changes in spinal cord white matter following injury, but imaging and postprocessing techniques in small animals remain lacking. Unilateral C5 hemisection lesions were created in a rat model, and ultrashort echo time magnetization transfer (UTE-MT) and diffusion-weighted sequences were used for imaging following injury. Magnetization transfer ratio (MTR) measurements and preferential diffusion along the longitudinal axis of the spinal cord were calculated as fractional anisotropy or an apparent diffusion coefficient ratio over transverse directions. The area of myelinated white matter was obtained by thresholding the spinal cord using mean MTR or diffusion ratio values from the contralesional side of the spinal cord. A decrease in white matter areas was observed on the ipsilesional side caudal to the lesions, which is consistent with known myelin and axonal changes following spinal cord injury. The myelinated white matter area obtained through the UTE-MT technique and the white matter area obtained through diffusion imaging techniques showed better performance to distinguish evolution after injury (AUCs > 0.94, p < 0.001) than the mean MTR (AUC = 0.74, p = 0.01) or ADC ratio (AUC = 0.68, p = 0.05) values themselves. Immunostaining for myelin basic protein (MBP) and neurofilament protein NF200 (NF200) showed atrophy and axonal degeneration, confirming the MRI results. These compositional and microstructural MRI techniques may be used to detect demyelination or remyelination in the spinal cord after spinal cord injury.

MRI Evaluation and Characterization of Ovarian Lesions Based on Ovarian-Adnexal Reporting and Data System MRI.

Background Managing ovarian lesions requires differentiating between benign and malignant cases. The development of a multiparametric MRI approach combining anatomical and functional criteria has led to the creation of the Ovarian-Adnexal Reporting and Data System (O-RADS) MRI scoring system, which enhances diagnostic accuracy. Objectives To study ovarian lesions and their characteristics, along with their risk stratification based on MRI O-RADS. Methods A prospective study used the O-RADS MRI criteria to categorize ovarian lesions. Clinical findings and MRI results were compared with histopathological outcomes to assess diagnostic accuracy. Results We identifiedabdominal pain as the most prevalent clinical finding among our cases (64, 91.43%), followed by a lump in the abdomen (33, 47.5%), dysmenorrhea (33, 47.5%), bleeding per vaginal (15, 21.43%), and weight loss (11, 15.71%). A total of 80 ovarian lesions were examined and characterized on the basis of the O-RADSMRI risk stratification system.Among the 80 ovarian lesions, 54 were histopathologically confirmed ovarian lesions (39 (72.22%) were benign, and 15 (27.77%) were malignant). The most common benign lesions were ovarian serous cystadenoma (28.20%) and ovarian mucinous cystadenoma (20.51%), while the most common malignant lesions were serous carcinoma (33.33%) and mucinous carcinoma (20%). Using the O-RADS MRI scoring system, we categorized six lesions (7.5%) as O-RADS 1 (all benign), 34 lesions (42.50%) as O-RADS 2 (32 benign and 2 malignant), 24 lesions (30%) as O-RADS 3 (23 benign and 1 malignant), seven lesions (8.75%) as O-RADS 4 (four benign and three malignant), and nine lesions (11.25%) as O-RADS 5 (all malignant). Our findings revealed significant differences in the size of lesions, the presence of thick septa, high T2-weighted signal intensity within solid tissue, and patterns of solid component enhancement and wall irregularity between malignant and benign lesions. The MRI cut-off score of ≥4 for malignancy demonstrated a sensitivity of 94.59%, a specificity of 97.5%, an accuracy of 97.62%, a positive predictive value of 94.5%, and a negative predictive value of 97.5%. The positive likelihood ratio was 32.7, while the negative likelihood ratio was 0.025. These results affirm the high diagnostic accuracy of the O-RADS MRI scoring system in distinguishing benign from malignant ovarian lesions. Conclusion The O-RADS MRI score is a highly accurate tool for differentiating between benign and malignant ovarian lesions. Its application can significantly enhance the management and treatment outcomes for patients with adnexal masses. The study confirms the scoring system's high sensitivity, specificity, and overall diagnostic accuracy.

Differences in the clinical presentations of anti-NMDAR (anti-N-methyl-D-aspartate receptor) encephalitis with status epilepticus: a retrospective case series

Literature on anti-NMDAR (anti-N-methyl-D-aspartate receptor) encephalitis is limited in developing countries, including Indonesia. This retrospective observational case series explored the impact of early diagnosis and treatment on patient outcomes in four distinct cases of anti-NMDAR encephalitis with status epilepticus, and other related conditions, of patients referred to Dr. Sardjito General Hospital, Yogyakarta. Clinical data from May 2021 to August 2023 were collected through the review of medical records, encompassing demographic information, clinical presentation, history, laboratory results, imaging studies, EEG reports, interventions, and the progression of the disease. Four cases were reported, three of whom were diagnosed with anti-NMDAR and one with bacterial encephalitis, each presenting a variety of neuropsychiatric clinical symptoms, leading to hospitalization, extensive testing, and interventions to establish the definitive diagnosis. Cases 1 and 4 have a childhood history of seizures. The cases analyzed factors including the impact of childhood versus adulthood onset and the adherence to taking medicine regularly leading to exacerbation symptoms and relapses. Distinguishing anti-NMDAR encephalitis from related conditions, such as bacterial encephalitis, was further complicated in patients with varied neuropsychiatric presentations (seizures, hallucinations, irritable behavior, headaches) and responses to the treatment. Supporting investigation finds positive NMDAR testing and abnormal CT, MRI, and EEG results, contributed to definitive diagnoses. It could be concluded that comprehensive diagnostic investigations are important for prompt recognition of clinical characteristics, and early initiation of immunomodulatory therapy in managing anti-NMDAR encephalitis and related conditions in Yogyakarta, Indonesia.

Effect of gestational age on cerebral lesions in neonatal encephalopathy

ObjectiveTo determine the risk on brain lesions according to gestational age (GA) in neonates with neonatal encephalopathy.DesignSecondary analysis of the prospective national French population-based cohort, Long-Term Outcome of NeonataL EncePhALopathy.SettingFrench...

MRI-Derived Modeling of Disease Progression Patterns in Patients With Temporal Lobe Epilepsy.

Temporal lobe epilepsy (TLE) is assumed to follow a steady course that is similar across patients. To date, phenotypic and temporal diversities of TLE evolution remain unknown. In this study, we aimed at simultaneously characterizing these sources of variability based on cross-sectional data. We studied consecutive patients with TLE referred for evaluation by neurologists to the Montreal Neurological Institute epilepsy clinic, who underwent in-patient video EEG monitoring and multimodal imaging at 3 Tesla, comprising 3D T1 and fluid-attenuated inversion recovery and 2D diffusion-weighted MRI. The cohort included patients with drug-resistant epilepsy and patients with drug-responsive epilepsy. The neuropsychological evaluation included Wechsler Adult Intelligence Scale-III and Leonard tapping task. The control group consisted of participants without TLE recruited through advertisement and who underwent the same MRI acquisition as patients. Based on surface-based analysis of key MRI markers of pathology (gray matter morphology and white matter microstructure), the Subtype and Stage Inference algorithm estimated subtypes and stages of brain pathology to which individual patients were assigned. The number of subtypes was determined by running the algorithm 100 times and estimating mean and SD of disease trajectories and the consistency of patients' assignments based on 1,000 bootstrap samples. Effect of normal aging was subtracted from patients. We examined associations with clinical and cognitive parameters and utility for individualized predictions. We studied 82 patients with TLE (52 female, mean age 35 ± 10 years; 11 drug-responsive) and 41 control participants (23 male, mean age 32 ± 8 years). Among 57 operated, 43/37/20 had Engel-I outcome/hippocampal sclerosis/hippocampal isolated gliosis, respectively. We identified 3 trajectory subtypes: S1 (n = 35), led by ipsilateral hippocampal atrophy and gliosis, followed by white-matter damage; S2 (n = 27), characterized by bilateral neocortical atrophy, followed by ipsilateral hippocampal atrophy and gliosis; and S3 (n = 20), typified by bilateral limbic white-matter damage, followed by bilateral hippocampal gliosis. Patients showed high assignability to their subtypes and stages (>90% bootstrap agreement). S1 had the highest proportions of patients with early disease onset (effect size d = 0.27 vs S2, d = 0.73 vs S3), febrile convulsions (χ2 = 3.70), drug resistance (χ2 = 2.94), a positive MRI (χ2 = 8.42), hippocampal sclerosis (χ2 = 7.57), and Engel-I outcome (χ2 = 1.51), pFDR < 0.05 across all comparisons. S2 and S3 exhibited the intermediate and lowest proportions, respectively. Verbal IQ and digit span were lower in S1 (d = 0.65 and d = 0.50, pFDR < 0.05) and S2 (d = 0.76 and d = 1.09, pFDR < 0.05), compared with S3. We observed progressive decline in sequential motor tapping in S1 and S3 (T = -3.38 and T = -4.94, pFDR = 0.027), compared with S2 (T = 2.14, pFDR = 0.035). S3 showed progressive decline in digit span (T = -5.83, p = 0.021). Supervised classifiers trained on subtype and stage outperformed subtype-only and stage-only models predicting drug response in 73% ± 1.0% (vs 70% ± 1.4% and 63% ± 1.3%) and 76% ± 1.6% for Engel-I outcome (vs 71% ± 0.8% and 72% ± 1.1%), pFDR < 0.05 across all comparisons. Cross-sectional MRI-derived models provide reliable prognostic markers of TLE disease evolution, which follows distinct trajectories, each associated with divergent patterns of hippocampal and whole-brain structural alterations, as well as cognitive and clinical profiles.

Prenatal Prognosis of Omphalocele Using Magnetic Resonance Imaging Measurement of Fetal Lung Volumes

BackgroundOmphalocele is a congenital midline abdominal wall defect resulting in herniation of viscera into a membrane-covered sac. Pulmonary complications, including pulmonary hypoplasia, pulmonary hypertension, and prolonged respiratory support are a leading cause of neonatal morbidity and mortality. Objective(s)This study aimed to assess the role of fetal MRI-derived lung volumes and omphalocele defect size as clinical tools to prognosticate postnatal pulmonary morbidity and neonatal mortality in those with a prenatally diagnosed omphalocele (PDO). Study DesignThis was a retrospective cohort study of all pregnancies with PDO at our fetal center from 2007–2023. Pregnancies with aneuploidy or concurrent life-limiting fetal anomalies were excluded. Using fetal MRI, observed-to-expected total fetal lung volume (O/E TLV) ratios were determined by a previously published method. The transverse diameter of the abdominal defect was also measured. The O/E TLV ratios and abdominal defect measurements were compared with postnatal outcomes. The primary outcome was death at any time. Secondary outcomes included death in the first 30 days of life or before discharge from birth hospitalization, the requirement of respiratory support with intubation and mechanical ventilation, or development of pulmonary hypertension. ResultsOf 101 pregnancies with a PDO, 54 pregnancies (53.5%) with prenatally diagnosed omphalocele met inclusion criteria. There was a significant increase in the rate of death when compared between the three O/E TLV classifications: 1/36 (2.8%) in the O/E≥50% group, 3/14 (21.4%) in the O/E 25%–49.9% group, and 4/4 (100%) in the O/E<25% group (P<.001). The rate of intubation increased with the severity of O/E TLV classification, with 27.8% in the O/E≥50% group, 64.3% in the O/E 25%–49.9% group, and 100% in the O/E<25% group (P=.003). The rate of pulmonary hypertension was also higher in the O/E 25%–49.9% (50.0%) and the O/E<25% (50.0%) groups compared to the O/E≥50% group (8.3%, P=.002). There was no association between the transverse diameter of the abdominal wall defect and the primary outcome of death (OR=1.08 95% CI=[0.65–1.78], P=.77). ConclusionsIn our cohort of patients with PDO, O/E TLV<50% is associated with death, need for intubation, prolonged intubation, and pulmonary hypertension. In contrast, omphalocele size demonstrated no prognostic value for these outcomes. The strong association between low fetal lung volume on MRI and poor neonatal outcomes highlights the utility of fetal MRI for estimating postnatal prognosis. Clinicians can utilize fetal lung volumes to direct perinatal counseling and optimize the plan of care.

The Role of Artificial Intelligence in Predicting Optic Neuritis Subtypes From Ocular Fundus Photographs.

Optic neuritis (ON) is a complex clinical syndrome that has diverse etiologies and treatments based on its subtypes. Notably, ON associated with multiple sclerosis (MS ON) has a good prognosis for recovery irrespective of treatment, whereas ON associated with other conditions including neuromyelitis optica spectrum disorders or myelin oligodendrocyte glycoprotein antibody-associated disease is often associated with less favorable outcomes. Delay in treatment of these non-MS ON subtypes can lead to irreversible vision loss. It is important to distinguish MS ON from other ON subtypes early, to guide appropriate management. Yet, identifying ON and differentiating subtypes can be challenging as MRI and serological antibody test results are not always readily available in the acute setting. The purpose of this study is to develop a deep learning artificial intelligence (AI) algorithm to predict subtype based on fundus photographs, to aid the diagnostic evaluation of patients with suspected ON. This was a retrospective study of patients with ON seen at our institution between 2007 and 2022. Fundus photographs (1,599) were retrospectively collected from a total of 321 patients classified into 2 groups: MS ON (262 patients; 1,114 photographs) and non-MS ON (59 patients; 485 photographs). The dataset was divided into training and holdout test sets with an 80%/20% ratio, using stratified sampling to ensure equal representation of MS ON and non-MS ON patients in both sets. Model hyperparameters were tuned using 5-fold cross-validation on the training dataset. The overall performance and generalizability of the model was subsequently evaluated on the holdout test set. The receiver operating characteristic (ROC) curve for the developed model, evaluated on the holdout test dataset, yielded an area under the ROC curve of 0.83 (95% confidence interval [CI], 0.72-0.92). The model attained an accuracy of 76.2% (95% CI, 68.4-83.1), a sensitivity of 74.2% (95% CI, 55.9-87.4) and a specificity of 76.9% (95% CI, 67.6-85.0) in classifying images as non-MS-related ON. This study provides preliminary evidence supporting a role for AI in differentiating non-MS ON subtypes from MS ON. Future work will aim to increase the size of the dataset and explore the role of combining clinical and paraclinical measures to refine deep learning models over time.

A comparative study of 18F-PSMA-1007 PET/CT and pelvic MRI in newly diagnosed prostate cancer

PurposeTo evaluate the difference in the diagnostic efficacy of 18F-PSMA-1007 PET/CT and pelvic MRI in primary prostate cancer, as well as the correlation between the two methods and histopathological parameters and serum PSA levels.MethodsA total of 41 patients with suspected prostate cancer who underwent 18F-PSMA-1007 PET/CT imaging in our department from 2018 to 2023 were retrospectively collected. All patients underwent 18F-PSMA-1007 PET/CT and MRI scans. The sensitivity, PPV and diagnostic accuracy of MRI and 18F-PSMA-1007 PET/CT in the diagnosis of prostate cancer were calculated after comparing the results of MRI and 18F-PSMA-1007 PET/CT with biopsy. The Spearman test was used to calculate the correlation between 18F-PSMA-1007 PET/CT, MRI parameters, histopathological indicators, and serum PSA levels.ResultsCompared with histopathological results, the sensitivity, PPV and diagnostic accuracy of 18F-PSMA-1007 PET/CT in the diagnosis of prostate cancer were 95.1%, 100.0% and 95.1%, respectively. The sensitivity, PPV and diagnostic accuracy of MRI in the diagnosis of prostate cancer were 82.9%, 100.0% and 82.9%, respectively. There was a mild to moderately positive correlation between Gleason (Gs) score, Ki-67 index, serum PSA level and 18F-PSMA-1007 PET/CT parameters (p < 0.05). There was a moderately negative correlation between the expression of AMACR (P504S) and 18F-PSMA-1007 PET/CT parameters (p < 0.05). The serum PSA level and the Gs score were moderately positively correlated with the MRI parameters (p < 0.05). There was no correlation between histopathological parameters and MRI parameters (p > 0.05).ConclusionCompared with MRI, 18F-PSMA-1007 PET/CT has higher sensitivity and diagnostic accuracy in the detection of malignant prostate tumors. In addition, the Ki-67 index and AMACR (P504S) expression were only correlated with 18F-PSMA-1007 PET/CT parameters. Gs score and serum PSA level were correlated with 18F-PSMA-1007 PET/CT and MRI parameters. 18F-PSMA-1007 PET/CT examination can provide certain reference values for the clinical diagnosis, evaluation, and treatment of malignant prostate tumors.

Diagnosing osteomyelitis in diabetic foot by diffusion-weighted imaging and dynamic contrast material-enhanced magnetic resonance imaging: a systematic review and meta-analysis

To evaluate the diagnostic performance of diffusion-weighted imaging (DWI) and dynamic contrast enhanced (DCE), for diagnosing osteomyelitis in the diabetic foot. A thorough search was carried out to identify suitable studies published up to September 2023. The quality of the studies involved was evaluated using Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2). The diagnostic sensitivity and specificity of each imaging modality/method for each specific cut point were summarized. The summary receiver operating characteristic (SROC) curve was calculated using bivariate mixed effects models. Five studies investigating 187 patients and 234 bone lesions with 110 diagnosed osteomyelitis were enrolled. Four studies used DWI (172 lesions), three studies used DCE techniques (140 lesions) and two studies presented results of conventional MRI (66 lesions). The sensitivity ranges using conventional MRI, DWI and DCE were 65%-100%, 65%-100% and 64%-100%, respectively. The specificity ranges were 50%-61%, 56%-95%, and 66%-93%, respectively. The SROC curve of DWI and DCE was 0.89 (95% CI, 0.86-0.92) and 0.90 (95% CI, 0.87-0.92), respectively. Combining DWI and DCE methods, alongside conventional MRI, can improve the reliability and accuracy of diabetic foot osteomyelitis diagnosis. However, the study recognizes result variability due to varying protocols and emphasizes the need for well-designed studies with standardized approaches. To optimize diagnostic performance, the study recommends considering low ADC values, Ktrans or rapid wash-in rate from DCE such as iAUC60, along with using large ROIs that cover the entire lesion while excluding normal bone marrow.

SISCOS in focal cortical dysplasia: localization and comparative analysis with MRI.

This study evaluates the efficacy of SISCOS (Subtraction ictal-interictal SPECT coregistered to SPECT) in localizing the epileptogenic zone (EZ) in focal cortical dysplasia (FCD), comparing its predictive performance with MRI and post-surgical outcomes based on ILAE classification. 84 patients with drug refractory epilepsy (DRE) who were operated and had histopathology consistent with FCD, were included in the study. All patients had undergone a complete work-up including SISCOS and MRI for EZ localization, followed by discussion in the multidisciplinary epilepsy surgery meeting prior to surgery. Ictal & interictal perfusion SPECT studies were performed with Tc-99m Ethylene Cysteinate Dimer (Tc-99m ECD) followed by SISCOS analysis using SPM2 and Bioimage Suite 2.6. Concordance for localization was determined by comparing with the surgical resection site and post-surgical outcomes were assessed using the ILAE classification. The concordance for EZ localization demonstrated by SISCOS was 73.8% and MRI was 82.1%. 52 patients (61.9%) had good surgical outcome and 31(59%) of these were FCD type 2. In patients with discordant MRI findings, SISCOS was able to provide localisation in 86% (13/15), with 69.2% showing good surgical outcomes. Sensitivity of SISCOS and MRI was 73% (95% CI = 59-84.8%) and 78% (95% CI = 67.5-90.3%) respectively with no significant difference between the two. In FCD type I, both SISCOS and MRI revealed a similar a sensitivity of 76.4% (95%CI = 50.1-93.2%). Concordant cases exhibited higher seizure-free odds ratios for both modalities. SISCOS is effective in localizing the EZ in FCD patients, comparable to MRI. Integrating SISCOS and MRI enhances lesion detection, especially in MRI discordant cases. A comprehensive diagnostic approach utilizing SISCOS and MRI can optimize the non-invasive pre-surgical assessment in DRE thereby guiding surgical decision-making in a resource-limited setting.

Ureteral endometriosis: MR imaging appearance for predicting complex procedures

Rationale and objectivesTo describe MRI characteristics of ureteral endometriosis (UE) in identifying intrinsic involvement of the ureteric wall and predicting complex procedures. MethodsThirty-three UE lesions in 30 patients treated for UE over a 20-year period were reviewed. A systematic analysis of 13 MRI (ureteric wall thickening, circumference, T1 signal, T2 signal, ureterectasis, lateral parametrial endometriosis (LPE), rectal endometriosis, the foregoing three-characteristic diameter, ovarian endometriomas, adenomyosis, paraurethral endometriosis) and 5 clinical (age, BMI, CA125, creatinine and rAFS stage) characteristics was performed. MRI results were compared to histology and surgical procedure performed (simple versus complex ureteral procedures). ResultsTwenty-five extrinsic and 8 intrinsic UE were pathologically identified. Twenty lesions underwent a simple procedure, and 12 underwent a complex procedure, with 1 ureteroscopic biopsy. There were significant differences in the characteristics of ureteric wall thickening, the diameter of dilated ureter and LPE, rectal endometriosis and adenomyosis between extrinsic and intrinsic UE (p < 0.05). UE was associated with LPE (p = 0.033). The criteria of ureteral wall thickening more accurately predicted intrinsic UE than circumference, but the AUC was not significant difference (AUC, 0.806 and 0.639; 95 % CI, [0.594, 0.937] and [0.419, 0.823], respectively; p = 0.350). There were significant differences in creatinine, thickening and adenomyosis between the simple and complex procedures (p < 0.05). In 11 lesions with the absence of ureterectasis, 4 lesions with hydronephrosis and thickening were intrinsic and underwent complex procedures, while 7 lesions extrinsic and simple. ConclusionsUreteric wall thickening as a analytical criterion may accurately predict intrinsic UE and complex ureteric procedures.

Post-Partum Clinical and Patient-Reported Outcome Changes in Mothers with Multiple Sclerosis: Findings from the NAPPREMS Study.

Background and Objective: Pregnancy in mothers with multiple sclerosis (MS) commonly results in significant changes in disease activity and changes in clinical care, including the discontinuation of disease modifying therapy (DMT). This study aimed at understanding the clinical and patient-reported outcomes (PROs) before, during and 1-year after delivery. Materials and Methods: A total of 30 pregnant mothers with MS were recruited as part of the study. Clinical (relapse activity and disability changes), PRO information and MRI outcomes were collected on four separate visits: one baseline visit-0-30 days post-delivery; and 3 follow-up visits at week 24, week 36 and week 52 from the baseline. PRO was assessed using a validated questionnaire called the Fatigue Scale for Motor and Cognitive Function (FSMC). The MRI scans were analyzed, and the count of new T2 lesions and/or contrast-enhancing lesions was determined. Results: The average time between delivery and the start of DMT was 142.5 days. Relapse activity before the pregnancy was numerically linked with the activity during the pregnancy, where up to 57.1% of the activity during pregnancy occurred in pwMS with previously active disease before conception (statistically trending with p = 0.073). The relapse activity after the pregnancy occurred twice as often in pwMS whose MS was clinically active before conception. All five pwMS who experienced a relapse prior to the pregnancy experienced worsening in their physical PRO domain. Conclusions: Pre-pregnancy activity is crucial in the screening of mothers with MS at risk for post-partum relapses, worsening of clinical disability and/or PRO measures. A post-partum MS period may benefit from the routine PRO utilization and screening for its worsening. The inflammatory activity during pregnancy was not associated with short-term disease progression.

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14-month-old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652 T > G (p.W218G); c.915 + 1G > T] in the BRF1 gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of BRF1 variants, which indicates patients with the developmental delay caused by BRF1 variants require other treatments instead of rehabilitation.

Zero-echo time MRI: an alternative method for the diagnosis of urinary stones in children.

To evaluate the potential of zero-echo time-magnetic resonance imaging (ZTE-MRI) in the assessment of urolithiasis and compare ZTE-MRI with computed tomography (CT) in pediatric patients. This was a single-center, prospective cross-sectional study conducted between April 2023 and December 2023. 23 patients (12 girls, 11 boys; mean age: 12.3, range 1-18) with urinary tract stones detected on non-enhanced abdominal CT were enrolled. The images were evaluated independently by two radiologists for the presence, and number of stones in the kidneys, ureters, and bladder. In the second session, two radiologists evaluated whether urinary tract stones could be detected by MRI compared to CT, and the maximum diameter of the stones was measured. The CT and MRI results were compared with the Wilcoxon test. The agreement between the results of the observers was examined using Spearman's rho correlation coefficient and the intraclass correlation coefficient. A total of 58 urinary tract stones were detected by CT and 39 of these were detected by MRI. Most of the stones that MRI could not detect were < 5 mm and the detection sensitivity of MRI increased in correlation with stone size (p < 0.001). There was poor intermodality agreement for stones < 5 mm, substantial agreement for stones 5-10 mm, and almost perfect agreement for stones > 10 mm. Interobserver agreement for stone detection on MRI was almost perfect for stones > 10 mm and 5-10 mm and was substantial for stones < 5 mm. ZTE-MRI is a promising modality for detecting urinary stones without radiation exposure in children. Zero-echo time-magnetic resonance imaging is a potential method for identifying urinary stones in children and other populations who are particularly sensitive to radiation. Urinary system stone disease in children is increasing and imaging is needed for managing urolithiasis. Zero-echo time-magnetic resonance imaging (ZTE-MRI) had an accuracy of 81.8% and 93.7% for stones larger than 5 mm and 10 mm, respectively. ZTE-MRI is a potential non-irradiating method for the diagnosis and management of urolithiasis.

Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.

Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of childhood epilepsy. In 100 children (53 female, 47 male) with epilepsy, targeted sequencing (TS) and clinical exome sequencing (CES) were performed. All cases (n= 100) included in the study were epilepsy patients. In addition, we investigated the genetic diagnosis rates according to the associated co-occurring findings (including developmental delay/intellectual disability, brain malformations, macro-/microcephaly, and dysmorphic features). The overall diagnostic rate in this study was 33% (n= 33 patients). We identified 11 novel variants in WDR45, ARX, PCDH19, SCN1A, CACNA1A, LGI1, ASPM, MECP2, NF1, TSC2, and CDK13. Genetic diagnosis rates were as follows: cases with developmental delay/intellectual disability 38.7% (24/62) and without developmental delay/intellectual disability 23.6% (9/38); cases with brain malformations 46.8% (15/32) and without brain malformations 25% (16/64); cases with macro-/microcephaly 50% (6/12) and without macro-/microcephaly 28.4% (25/88); and cases with dysmorphic features 48.2% (14/29) and without dysmorphic features 23.9% (17/71). Genotype-phenotype correlation is even more important in diseases such as epilepsy, which include many genes and variants of these genes in etiopathogenesis. We presented the clinical findings of the cases carrying 11 novel variants in detail, including dysmorphic features, accompanying neurodevelopmental disorders, EEG results, and brain MRI results.