Abnormal Magnetic Resonance Research Articles

P-915. Categorization and Temporal Dynamics of Mortality in All-Cause Encephalitis

Abstract Background Encephalitis in adults is associated with inpatient mortality in approximately 10% of patients but the cause and timing of death are unknown. Variables associated with inpatient mortality in 641 adults with encephalitis. 1p-value (statistically significant when <0.05) comparing the risk for mortality with each variable; 2N: total number of patients with data on analyzed variable; 3n: number of patients meeting criteria for the analyzed variable; 4BMI: body mass index, in kg/m2; 5CCI: Charlson comorbidity index score ≥3; 6Immunocompromise: defined as Human immunodeficiency virus (HIV) infection, recent chemotherapy (<1 month), solid organ or bone marrow transplantation, receiving ≥20 mg of prednisone or equivalent for >1 month, or congenital immunodeficiency; 7Acute presentation: if presenting within the first 5 days from symptom onset; 8Fever: temperature >38.4 °C; 9Focal neurological deficits: defined as acute-onset cranial nerve abnormalities or acute defects in sensorimotor abilities including aphasia and seizures; 10Psychiatric manifestations: behavioral (agitation, personality changes, combativeness), psychosis (delusions, paranoid ideas, hallucinations), mood disturbances (irritability, depression, anxiety), sleep disturbances (insomnia or hypersomnia), and catatonia; 11APACHE II score: Acute Physiology and Chronic Health Evaluation; 12SOFA score: Sequential Organ Failure Assessment score; 13GCS: Glasgow coma scale; 14Four score: eye response, motor response, brainstem reflexes, and respiration pattern; 15WBC: white blood cells; 16ICP: intracranial pressure, measured based on CSF opening pressure; 17CSF: cerebrospinal fluid; 18RBC: red blood cells. 19CT (Computed Tomography) scan abnormalities: hemorrhage, mass, or cerebral infarction; 20MRI (Magnetic Resonance Imaging) abnormalities: restricted diffusions, intraparenchymal lesions, demyelination, leukoencephalopathy, gliosis, ring enhancing lesions, or dural enhancement; 21EEG: electroencephalogram; 22ICU: intensive care unit. Methods We conducted a retrospective study across two tertiary healthcare systems in Texas and Maryland between 2002-2023. The causes of death were categorized according to the World Health Organization and National Center for Health Statistics into 3 groups: category 1, where encephalitis was the immediate cause of death; category 2, the underlying cause contributing to mortality but not directly responsible; or category 3, unrelated to the cause of death, acting independently. We also examined the timing of death from initial presentation, and the association of different variables with mortality. Distribution of causes of death per category in 45 adults with encephalitis 1Severe neurological impairment: including brain death; 2Sepsis/septic shock: included disseminated Cryptococcal, Staphylococcus aureus, and Streptococcus pneumoniae infections; 3HIV/AIDS: Human immunodeficiency virus/acquired immunodeficiency syndrome; 4CVID: Common variable immunodeficiency; 5Nosocomial bacteremia: in stem cell transplant patient with Mantle lymphoma; 6Malignancy: suspected AML (acute myeloid leukemia) and primary CNS (central nervous system) lymphoma; 7Multifactorial: included patients with multifactorial shock (2) and multiorgan failure (2). Results A total of 641 adults who had encephalitis were enrolled, 45 (7%) had inpatient mortality. Baseline factors associated with mortality included age, low BMI, presence of comorbidities, immunocompromised state, fever, psychiatric manifestations, memory deficits, mechanical ventilation, altered mental status, thrombocytopenia, hypoglycorrhachia, lymphocytic pleocytosis, HSV or VZV etiology of encephalitis, abnormal electroencephalogram and abnormal magnetic resonance imaging of the brain (p < 0.05). Encephalitis was the immediate cause of death (category I) in 62% of cases with a median time to death of 12 days, the underlying (category 2) in 13% with a median time to death of 12.5 days, and unrelated (category 3) in 25% with a median time to death of 27 days. Distribution of patients per category of death *Median timing of death, in days (range) Conclusion Encephalitis was the immediate or underlying cause of inpatient mortality in the majority of patients, particularly in the first 14 days. Evaluation of categories of death with timing of mortality Disclosures John Probasco, MD, Genentech: Study site investigator for multicenter study Rodrigo Hasbun, MD MPH FIDSA, Biomeriaux: Grant/Research Support|Biomeriaux: Honoraria

De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.

Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE. Herein, we report the cases of 2 children with DEE caused by pathogenic variants in the KCNB1 gene. Trio whole-exome sequencing identified novel KCNB1 genotypes, c. 1160C > A and c.1012C > T, which had not been reported previously, in 2 unrelated patients. Two children were admitted to our hospital for a detailed evaluation of frequent seizures. And both of these children have abnormal electroencephalogram and brain magnetic resonance imaging results, accompanied by developmental delay. A genetic study using trio-whole-exome sequencing confirmed the diagnosis of KCNB1-related developmental and epileptic encephalopathy. Both patients accepted the treatment of antiepileptic drugs. 1 patient had seizure remission with a combination of sodium valproate and lamotrigine, and the other was lost to follow-up. Trio-whole-exome sequencing technology was used to determine the etiology of the 2 children with DEE. This study confirmed that genetic testing provides a basis for the diagnosis of children with abnormal electroencephalogram and brain magnetic resonance imaging findings and developmental delay, and provides data supporting a future phenotype-genotype correlation study.

Anti-Tr/DNER Antibody-associated Paraneoplastic Neurological Syndrome Presenting Limbic Encephalitis with Anaplastic Large Cell Lymphoma: A Case Report

An 82-year-old man presented with acute progressive disturbance of consciousness. We suspected autoimmune limbic encephalitis because of abnormal magnetic resonance imaging findings in the bilateral temporal lobes and cerebrospinal fluid pleocytosis. The patient tested positive for anti-Tr/Delta/Notch-like epidermal growth factor-related receptor (DNER) antibodies, and a tissue biopsy revealed complications of anaplastic large cell lymphoma. Typically, anti-Tr/DNER antibody-associated paraneoplastic neurological syndrome presents with cerebellar ataxia and is complicated by Hodgkin lymphoma (HL). However, there are rare cases that present only with LE and are complicated by tumors other than HL; therefore, aggressive antibody measurement and search for tumors are important.

Pituitary abnormalities in patients with pediatric growth hormone deficiency in a single tertiary center.

There is controversy as to whether brain magnetic resonance imaging (MRI) should be performed on all children with growth hormone deficiency (GHD) including those judged to have mild GHD. This study was aimed to determine the frequency of pituitary or intracranial abnormalities in pediatric GHD and to identify risk factors that may predict pituitary or intracranial abnormalities. A total of 95 pediatric GHD patients were included. Their medical records and brain magnetic resonance (MR) images were reviewed retrospectively. Abnormal pathogenic MR images were found in 14 patients (14.7%), including 10 (10.5%) with pituitary hypoplasia and 4 (4.2%) with pituitary stalk interruption syndrome. Serum levels of insulin-like growth factor-I (IGF-I), IGF-I standard deviation score (SDS), insulin-like growth factor binding protein 3 (IGFBP3), and growth hormone (GH) peak level of GH stimulation test were statistically significantly lower in the group with abnormal brain MRI. The frequency of abnormal MRI was statistically significantly higher in the complete GHD group. IGF-1 SDS showed the highest area under the curve which can predict the presence of brain abnormality with a sensitivity of 85% and a specificity of 71.4%, if IGF-1 SDS was less than -1.365. IGF-1, IGFBP3, and GH peak levels also showed good sensitivity of over 80% for predicting brain abnormalities with cutoff values of 70.285 ng/mL, 1,604 ng/mL, and 4.205 ng/mL, respectively. The sensitivity and specificity of each cutoff value of IGF-1, IGF-1 SDS, IGFBP3, and GH peak levels were good and statistically significant in predicting brain MRI abnormalities. However, it was insufficient to predict all brain abnormalities with these variables. Therefore, we would like to recommend performing a brain MRI if a child is diagnosed with GHD.

ESR Essentials: Image evaluation of patients with seizures and epilepsy-practice recommendations by the European Society of Neuroradiology.

Epilepsy, a neurological disorder characterised by recurrent seizures, poses significant challenges in diagnosis, treatment, and management. Understanding the underlying causes and identifying precise anatomical locations of epileptogenic foci are critical for effective management strategies, particularly in drug-resistant patients. Neuroimaging techniques, particularly magnetic resonance (MR), play a pivotal role in the evaluation of epilepsy patients, offering insights into structural abnormalities, epileptogenic lesions, and functional alterations within the brain. Diverse clinical scenarios that warrant neuroimaging in epilepsy patients, ranging from first-onset seizures to drug-resistant epilepsy, will be presented, elucidating the considerations and recommendations for imaging modalities. The dedicated MR protocol for epilepsy patients will be discussed, justifying the rationale behind sequence selection and optimisation strategies and providing clues about how to read these magnetic resonance imaging (MRI) exams. Finally, MR findings associated with common epileptogenic lesions, such as hippocampal sclerosis, focal cortical dysplasia, and long-term epilepsy-associated tumours, will be described. This article reviews essential concepts, including definitions, classification, imaging indications, protocols, and neuroradiological findings, aiming to understand how neuroimaging contributes to diagnosing and managing epilepsy comprehensively. KEY POINTS: MR should be performed in adults and children with a recent diagnosis of epilepsy of unknown aetiology, a first seizure, and a negative CT. Performing a dedicated MR protocol in focal epilepsy is essential for increasing the detection of potentially epileptogenic lesions. For presurgical evaluations, MR abnormalities should correlate with the electric pattern, semiology data, or other neuroimaging examination to be considered the epileptogenic lesion.

Diagnostic performance of ultrasound for myositis and fasciitis, including necrotizing fasciitis, in pediatric patients.

To demonstrate the diagnostic performance of ultrasound for abnormal magnetic resonance imaging findings in pediatric patients with suspected myositis and fasciitis. We compared sonographic findings between patients with and without necrotizing fasciitis. In 21 pediatric patients, the presence or absence of abnormal T2-high signal intensity in subcutaneous fat, peripheral deep fascia, intermuscular fascia, and muscle was recorded. The extent of the disease based on ultrasound findings was recorded according to the previous locations. The vascular lumen within the affected muscle was also evaluated. Patients were classified into two groups: those with necrotizing fasciitis and those without. The presence/absence of sonographic findings and width of fluid accumulation in the peripheral deep fascia was compared between the two groups. Three patients were classified into the necrotizing fasciitis group. The ultrasound diagnostic performance for abnormal findings in subcutaneous fat/peripheral deep fascia/ intermuscular fascia/muscle was 90.5%/76.2%/47.6%/90.5%, respectively. The presence/absence of abnormal findings in peripheral deep fascial edema, its width and vascular lumen collapse were significantly different between the two groups. The other findings were not significantly different between the groups. Ultrasound demonstrated reliability in detecting abnormal findings and was useful for diagnosing necrotizing fasciitis, facilitating urgent surgical intervention.

Neuro-Behçet's Disease Masquerading as Multiple Sclerosis in a Young Male.

This case highlights the importance of considering Neuro-Behçet's disease (NBD) in the differential diagnosis of multiple sclerosis (MS), particularly in patients presenting with neurological manifestations, abnormal magnetic resonance imaging (MRI) findings, and systemic symptoms consistent with Behçet's disease (BD).

Dynamics and prognostic role of persistent angina in chronic coronary syndrome with clinical, angiographic and stress CMR evidence of ischemia

Abstract Background In patients with established chronic coronary syndrome (CCS), the significance of myocardial ischemia is a controversial issue. Persistent angina within the first year after treatment intervention has ranged widely in previous studies and its association with subsequent hard clinical events is unclear. We aim to evaluate the long-term dynamics of angina class and the prognostic role of persistent angina in symptomatic chronic coronary syndrome (CCS) patients with abnormal stress cardiovascular magnetic resonance (CMR) and altered angiography. Methods We analyzed 486 CCS patients with Canadian Cardiovascular Society angina class ≥2, perfusion deficit in stress CMR and severe lesions in angiography submitted to treatment intervention (medical therapy plus, if feasible, CMR-guided revascularization). The dynamics and association of persistent angina at 6 months post-intervention with subsequent cardiac death, myocardial infarction, and admission for heart failure were investigated. Results All patients displayed angina class ≥2 (mean: 2.7±0.7), abnormal stress CMR (mean ischemic burden: 6.2±3 segments) and severe angiographic lesions. Most underwent CMR-guided revascularization (n=392, 81%). The angina resolution rate was 78% at 6 months, and 79%, 77%, and 75% at 1, 2, and 5 years respectively. Compared with medical treatment alone, CMR-guided revascularization was associated with less persistent angina (19% vs. 35%; HR 0.42 [0.2–0.7]; p=0.003). During an 8.3-year median follow-up, persistent angina was independently associated with higher subsequent cardiac death rates (18% vs. 4%; HR 10.9 [4.1–29.2]; p<0.001), myocardial infarction (24% vs. 6%; HR 5.8 [3.2–10.4]; p<0.001), and admission for heart failure (31% vs. 14%; HR 2.7 [1.7–4.2]; p<0.001). Conclusions In CCS patients with robust diagnostic evidence by symptoms, stress CMR and angiography, sustained improvement of anginal symptoms can be achieved in most patients after treatment intervention. Angina resolution is more frequent in patients treated with CMR-guided revascularization and is associated with fewer cardiac events.Central Figure.Persistent angina and MACE risk

Medication-induced changes on magnetic resonance imaging of the brain.

In this review the authors focus on abnormal brain magnetic resonance imaging caused by drugs given to patients in any age group for any disease. The review includes viral infections with fever in children/infections in general, epilepsy, psychiatric diseases, multiple sclerosis, neoplasms, bone marrow/organ transplantations, total parenteral nutrition, vaccinations, oral contraceptives and other prothrombotic drugs, and gadolinium deposition. Knowledge of patients' diseases and medications they receive is crucial to establish the correct diagnosis. The absence of these data in a referral for a brain MRI scan can result in completely wrong suspicions and unleash unnecessary, complicated, time-consuming and expensive diagnostics, causing additional stress in patients and their guardians.

Seizure recurrence following the first unprovoked seizure: Risk factors among children in UAE.

In a retrospective study of paediatric and adolescent patients in Abu Dhabi, UAE, who experienced their first unprovoked seizure between March 2016 and March 2020, with a minimum one-year follow-up, we identified significant risk factors associated with seizure recurrence. Among 317 patients, 96.2% experienced seizure recurrence, with the majority (68.8%) occurring within the first 6-month follow-up period. Notable risk factors for recurrence included focal seizures, symptomatic seizure causes, abnormal initial electroencephalogram (EEG) findings, abnormal brain magnetic resonance imaging results, and the presence of neurological disorders. Interestingly, the type of epileptiform activity in the initial EEG did not predict recurrence risk. Over a 3-year period, the overall recurrence risk was 98.4%, particularly higher in cases with symptomatic seizures compared to idiopathic (genetic) ones. These findings underscore the importance of vigilant monitoring, particularly in the early post-seizure follow-up period, and advocate for initial EEG assessments, especially in cases of remote symptomatic first unprovoked seizures.

Prognostic role of persistent angina after percutaneous revascularization in chronic coronary syndrome with altered angiography and stress CMR

Introduction and objectivesIn patients with established chronic coronary syndrome (CCS), the significance of persistent angina is controversial. We aimed to evaluate the prognostic role of persistent angina in symptomatic CCS patients with abnormal stress cardiovascular magnetic resonance (CMR) and altered angiographic findings undergoing percutaneous revascularization. MethodsWe analyzed 334 CCS patients with Canadian Cardiovascular Society angina class ≥2, perfusion deficits on stress CMR and severe lesions in angiography who underwent medical therapy optimization plus CMR-guided percutaneous revascularization. We investigated the association of persistent angina at 6 months postintervention with subsequent cardiac death, myocardial infarction, and hospital admission. ResultsAll patients had angina class ≥2 (mean: 2.8±0.7), abnormal stress CMR (mean ischemic burden: 5.8±2.7 segments), and severe angiographic lesions. The angina resolution rates were 81% at 6 months, and 81%, 81%, and 77% at 1, 2, and 5 years, respectively. During a median follow-up of 8.9 years, persistent angina was independently associated with higher rates of subsequent cardiac death (13% vs 4%; HR, 3.7; 95%CI, 1.5-9.2; P=.005), myocardial infarction (24% vs 6%; HR, 4.9; 95%CI, 2.4–9.9; P<.001), and hospital admission for heart failure (27% vs 13%; HR, 2.7; 95%CI, 1.5–5.2; P=.001). ConclusionsIn CCS patients with robust diagnostic evidence from symptoms, stress CMR, and angiography, persistent angina after percutaneous revascularization is a strong predictor of subsequent cardiac death, myocardial infarction, and hospital admission for heart failure.

Development of a novel nomogram for predicting prognosis of North Chinese with autoimmune cerebellar ataxia

Purpose The aim of this study was to develop a prognostic nomogram which could predict the prognosis of north Chinese patients with autoimmune cerebellar ataxia (ACA) after immunotherapy. Methods Patients with an initial diagnosis of ACA who accepted first-line immunotherapy at our hospital from March 2018 to May 2023 were retrospectively reviewed. Modified Rankin Scale (mRS) was used to evaluate neurological outcomes. According to the mRS scores after immunotherapy, patients with ACA were divided into good prognosis group (mRS 0–2) and poor prognosis group (mRS 3–6). The nomogram for poor prognosis of ACA patients were built based on logistic regression analysis. The validation of the prognostic model was evaluated by concordance index (C-index), calibration curves, and decision curve analyses (DCAs). Results A total of 86 patients with ACA who received immunotherapy at our hospital were included in this study. They were randomly divided into a training cohort (n = 60) and a validation cohort (n = 26) at a ratio of 7:3. Multivariate analyses revealed that that prognostic variables significantly related to the poor prognosis of ACA were age, elevated cerebrospinal fluid (CSF) albumin (ALB) and abnormal magnetic resonance imaging (MRI). The nomogram was constructed based on above 3 factors. The C-index of the nomogram was 0.935 (95% CI: 0.884-0.991) in the training set and 0.933 (95% CI: 0.763-0.994) in the validation set. The calibration plots for the nomogram showed that predictions of risk of poor prognosis were almost consistent with actual observations. The DCAs showed great clinical usefulness of the nomograms. Conclusion We successfully developed a nomogram to predict poor prognosis for ACA patients using risk factors of age, elevated CSF-ALB and abnormal MRI.

Alteration in early resting‑state functional MRI activity in comatose survivors of cardiac arrest: a prospective cohort study

BackgroundThis study aimed to explore the characteristics of abnormal regional resting-state functional magnetic resonance imaging (rs-fMRI) activity in comatose patients in the early period after cardiac arrest (CA), and to investigate their relationships with neurological outcomes. We also explored the correlations between jugular venous oxygen saturation (SjvO2) and rs-fMRI activity in resuscitated comatose patients. We also examined the relationship between the amplitude of the N20-baseline and the rs-fMRI activity within the intracranial conduction pathway of somatosensory evoked potentials (SSEPs).MethodsBetween January 2021 and January 2024, eligible post-resuscitated patients were screened to undergo fMRI examination. The amplitude of low-frequency fluctuation (ALFF), fractional ALFF (fALFF), and regional homogeneity (ReHo) of rs-fMRI blood oxygenation level-dependent (BOLD) signals were used to characterize regional neural activity. Neurological outcomes were evaluated using the Glasgow–Pittsburgh cerebral performance category (CPC) scale at 3 months after CA.ResultsIn total, 20 healthy controls and 31 post-resuscitated patients were enrolled in this study. The rs-fMRI activity of resuscitated patients revealed complex changes, characterized by increased activity in some local brain regions and reduced activity in others compared to healthy controls (P < 0.05). However, the mean ALFF values of the whole brain were significantly greater in CA patients (P = 0.011). Among the clusters of abnormal rs-fMRI activity, the cluster values of ALFF in the left middle temporal gyrus and inferior temporal gyrus and the cluster values of ReHo in the right precentral gyrus, superior frontal gyrus and middle frontal gyrus were strongly correlated with the CPC score (P < 0.001). There was a strong correlation between the mean ALFF and SjvO2 in CA patients (r = 0.910, P < 0.001). The SSEP N20-baseline amplitudes in CA patients were negatively correlated with thalamic rs-fMRI activity (all P < 0.001).ConclusionsThis study revealed that abnormal rs-fMRI BOLD signals in resuscitated patients showed complex changes, characterized by increased activity in some local brain regions and reduced activity in others. Abnormal BOLD signals were associated with neurological outcomes in resuscitated patients. The mean ALFF values of the whole brain were closely related to SjvO2 levels, and changes in the thalamic BOLD signals correlated with the N20-baseline amplitudes of SSEP responses.Trial registrationNCT05966389 (Registered July 27, 2023).

Foot and Ankle MRI Findings in Asymptomatic Professional Ballet Dancers.

Previous research in sport populations has demonstrated that abnormal magnetic resonance imaging (MRI) findings may be present in individuals without symptoms or known pathology. Extending this understanding to ballet, particularly in relation to the foot and ankle, is important to guide medical advice given to dancers. To assess foot and ankle MRI scans in asymptomatic ballet dancers focusing on bone marrow edema and the posterior ankle and to investigate whether these MRI findings would become symptomatic within 1 year. Case series; Level of evidence, 4. In total, 31 healthy dancers (62 feet/ankles; 15 male and 16 female; age, 26.5 ± 4.3 years) who were dancing in full capacity were recruited from an elite professional ballet company. Orthogonal 3-plane short tau inversion recovery imaging of both feet and ankles was obtained using 3T MRI and the images were reviewed using a standardized evaluation form by 2 musculoskeletal radiologists. Injuries in the company were recorded and positive MRI findings were assessed for correlation with any injuries requiring medical attention during the subsequent 12 months. A total of 51 (82%) of the 62 feet and ankles had ≥1 area of bone marrow edema. The most common locations of bone marrow edema were the talus (n = 41; 66%), followed by first metatarsal (n = 14; 23%). Os trigonum and Stieda process were seen in 5 (8%) and 8 (13%) ankles, respectively. Among them, 2 os trigona showed bone marrow edema. Fluid in the anterior and posterior talocrural joints and the subtalar joint was observed in 48%, 63%, and 63% of these joints, respectively. Fluid around foot and ankle tendons was observed, with the most prevalent being the flexor hallucis longus tendon (n = 13; 21%). Two dancers who had positive findings on their MRI subsequently developed symptoms during the next 12 months. Positive MRI findings are commonplace in the foot and ankle of asymptomatic professional ballet dancers. The majority do not result in the development of symptoms requiring medical attention within 12 months. Careful interpretation of MRI findings with the dancer's clinical picture is required before recommending activity modification or further intervention.

Immune-related encephalitis after immune checkpoint inhibitor therapy.

Immune checkpoint inhibitors (ICI) have revolutionized cancer treatment but can trigger immune-related encephalitis. We report one of the largest case series of patients with immune-related encephalitis and review of the literature. Retrospective series of patients with immune-related encephalitis and literature review. Fourteen patients with cancer treated with ICI (50% combination therapy) developed immune-related encephalitis. Diagnostic testing revealed cerebral spinal fluid (CSF) lymphocytic pleocytosis (85%) and elevated protein (69%), abnormal brain magnetic resonance imaging(MRI) (33%) or brain FDG-PET (25%), electroencephalogram (EEG) abnormalities (30%), and autoantibodies (31%). Encephalitis treatment included: corticosteroids (86%), intravenous immunoglobulin (IVIg) (36%), plasmapheresis (7%), and rituximab (29%). There were no deaths and 12 patients had significant recovery, although long-term complications were observed. All patients discontinued ICI. Longitudinal follow-up demonstrated anti-cancer response to ICI at 3 months (85%) and 6 months post-ICI initiation (77%). A literature review identified 132 patients with immune-related encephalitis. Most were treated with PD-1 inhibitors (18% combination). Common abnormalities included elevated CSF protein (84%) or pleocytosis (77%), abnormal brain MRI (65%), or autoantibodies (47%). Nearly all were treated with corticosteroids, many required additional therapy with IVIg (26%) or rituximab (12%). Most patients had clinical improvement (81%) but a minority (10%) had a clinical relapse after completing corticosteroid taper. ICIs were resumed in 7 patients (5%), with relapse in 3. Immune-related encephalitis is treatable and improves with corticosteroids in most cases but may require additional immunosuppression. Re-emergence of encephalitis is rare and does not typically result in adverse outcomes, and this should be considered in neurological immune-related adverse event management guidelines.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study

BackgroundGenetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances. MethodsWe obtained data from 378 epileptic described patients, who underwent CMA between 2015 and 2021. Different types of syndromic or nonsyndromic epilepsy were represented. ResultsAfter excluding patients who were undertreated or had missing data, we included 250 patients with treated epilepsy and relevant clinical information. These patients mostly had focal epilepsy or developmental and epileptic encephalopathy, with a median start age of 2 years. Ninety percent of the patients had intellectual disability, more than two thirds had normal head size, and 60% had an abnormal magnetic resonance imaging. We also included 10 patients with epilepsy without comorbidities. In our cohort, we identified 35 pathogenic copy number variations (CNVs) explaining epilepsy with nine recurrent CNVs enriched in patients with epilepsy, 12 CNVs related to neurodevelopmental disorder phenotype with possible epilepsy, five CNVs including a gene already known in epilepsy, and nine CNVs based on size combined with de novo occurrence. The diagnosis rate in our study reached 14% (35 of 250) with first-line CMA, as previously reported. Although targeted gene panel sequencing could potentially diagnose some of the reported epilepsy CNVs (34% [12 of 35]). ConclusionsCMA remains a viable option as the first-line genetic test in cases where other genetic tests are not available and as a second-line diagnostic technique if gene panel or exome sequencing yields negative results.

Clinical characteristics analysis of 4 cases with acute flaccid myelitis in children

Objective: To summarize the clinical manifestations, diagnosis, treatment and prognosis of acute flaccid myelitis (AFM) in children. Methods: Clinical characteristics of 4 AFM cases from Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, from September 2018 to November 2022, were analyzed retrospectively. Results: The age of 4 children with AFM was 7 years, 4 years and 3 months, 7 years and 1 month, 6 years and 5 months, respectively. There were 2 boys and 2 girls. Prodromal infection status showed 3 children of respiratory tract infection and 1 child of digestive tract infection. The main manifestation was asymmetrical limb weakness after infection, and the affected limb range was from monoplegia to quadriplegia. Cranial nerve injury was involved in 1 child, no encephalopathy. Magnetic resonance imaging in the spinal cord of all 4 children showed long T1 and T2 signals, mainly involving gray matter. Cerebrospinal fluid cell-protein separation was observed in 2 children. Pathogen detected in 1 child pharyngeal swab was enterovirus D68. Antibody IgM to adenovirus was positive in the blood of 1 child. Antibody IgG against Echo and Coxsackie B virus were positive in the blood of another child. After glucocorticoid, human immunoglobulin or simple symptomatic treatment and at the same time under later rehabilitation training, muscle strength recovered to different degrees, but there were disabilities left in 3 children. Conclusions: AFM should be considered in children with acute and asymmetrical flaccid paralysis accompanied by abnormal magnetic resonance imaging signal in the central region of spinal cord, especially post-infection. The effective treatment is limited and the prognosis is poor.

Prevalence of Abnormal Cardiovascular Magnetic Resonance Findings in Athletes Recovered from COVID-19 Infection: A Systematic Review and Meta-Analysis.

Background: Competitive sports and high-level athletic training result in a constellation of changes in the myocardium that comprise the 'athlete's heart'. With the spread of the COVID-19 pandemic, there have been concerns whether elite athletes would be at higher risk of myocardial involvement after infection with the virus. This systematic review and meta-analysis evaluated the prevalence of abnormal cardiovascular magnetic resonance (CMR) findings in elite athletes recovered from COVID-19 infection. Methods: The PubMed, Cochrane and Web of Science databases were systematically search from inception to 15 November 2023. The primary endpoint was the prevalence of abnormal cardiovascular magnetic resonance findings, including the pathological presence of late gadolinium enhancement (LGE), abnormal T1 and T2 values and pericardial enhancement, in athletes who had recovered from COVID-19 infection. Results: Out of 3890 records, 18 studies with a total of 4446 athletes were included in the meta-analysis. The pooled prevalence of pathological LGE in athletes recovered from COVID-19 was 2.0% (95% CI 0.9% to 4.4%, I2 90%). The prevalence of elevated T1 and T2 values was 1.2% (95% CI 0.4% to 3.6%, I2 87%) and 1.2% (95% CI 0.4% to 3.7%, I2 89%), respectively, and the pooled prevalence of pericardial involvement post COVID-19 infection was 1.1% (95% CI 0.5% to 2.5%, I2 85%). The prevalence of all abnormal CMR findings was much higher among those who had a clinical indication of CMR. Conclusions: Among athletes who have recently recovered from COVID-19 infection, there is a low prevalence of abnormal CMR findings. However, the prevalence is much higher among athletes with symptoms and/or abnormal initial cardiac screening. Further studies and longer follow up are needed to evaluate the clinical relevance of these findings and to ascertain if they are associated with adverse events.

Low triiodothyronine (T3) levels predict worse outcomes in autoimmune encephalitis-A meta-analysis of current literature.

An unusual association between thyroid dysfunction and autoimmune encephalitis (AE) was noticed when patients presented with low free triiodothyronine (fT3) levels and antithyroid antibodies. We conducted a meta-analysis to investigate whether thyroid dysfunction, that is, lower fT3 levels are associated with worsening clinical manifestations and prognosis in patients with AE. Literature search of five electronic databases was performed till April 5, 2023. Inclusion criteria were as follows: Observational studies reporting patients with all subtypes of AE and assessing thyroid dysfunction categorized as low fT3 and non-low fT3. Primary endpoints included modified Rankin scale (mRS) at admission, abnormal magnetic resonance imaging, length of stay, seizures, and consciousness declination. Comprehensive literature search resulted in 5127 studies. After duplicate removal and full-text screening, six observational studies were included in this analysis. Patients with low fT3 were 2.95 times more likely to experience consciousness declination (p=.0003), had higher mRS at admission (p<.00001), had 3.14 times increased chances of having a tumor (p=.003), were 3.88 times more likely to experience central hypoventilation, and were 2.36 times more likely to have positivity for antithyroid antibodies (p=.009) as compared to patients with non-low fT3. The findings of our study suggest that low fT3 levels might be related to a more severe disease state, implying the significance of thyroid hormones in AE pathogenesis. This finding is crucial in not only improving the early diagnosis of severe AE but also in the efficient management of the disease.

Early Puberty Trend during the COVID-19 Pandemic in Singapore: A Retrospective Review in a Single Tertiary Centre.

We aimed to study the trend of referrals for precocious puberty during the COVID-19 pandemic compared to pre-COVID years, explore the differences in the demographic and clinical features, and evaluate the contributing factors. The cases referred for assessment of PP from 2018-2021 to our endocrine centre were grouped into pre-COVID (2018-2019) and COVID (2020-2021) years. Cases fulfilling the diagnosis of PP included the onset of thelarche <8 years in females and 4 ml testicular volume <9 years in males. The PP was further differentiated as Isolated Thelarche (IST) and Central Precocious Puberty (CPP). Early menarche was defined as menarche <10 years old. There were more referrals for PP and more diagnosed as CPP during the COVID-19 pandemic, predominantly among females. There were more endocrine tests done and more cases received treatment. None of the abnormal magnetic resonance imaging (MRI) pituitary findings required surgical intervention. The body mass index (BMI) was found to be positively associated with the risk of getting CPP with a crude-odd ratio (COR) of 1.8, P <0.001, and early menarche (COR 2.1, P <0.001). We found a significant increase in the referrals of PP and diagnosis of CPP during the COVID-19 pandemic. Higher BMI was found to be associated with CPP and early menarche.