Citations

BACKGROUND The clinical and radiological evolution of large capillary telangiectasias is largely unknown. OBSERVATIONS A 30-year-old female presented with progressive ataxia and nystagmus. She was found to have a large, diffuse enhancing pontomedullary lesion with associated hypointensity on susceptibility-weighted imaging consistent with a large capillary telangiectasia. In addition, she had a second capillary telangiectasia in the right frontal lobe, hypertrophic olivary degeneration (HOD), and multiple susceptibility lesions throughout the brain. The patient’s condition continued to deteriorate and she became nonambulatory over 8 years, with right-sided hemiparesis and hemiataxia, nystagmus, palatal myoclonus, and a left abducens palsy. Over the follow-up period, serial MR images showed increased cavitation of the lesion and significant brainstem atrophy. LESSONS Capillary telangiectasias are generally small, benign lesions composed of dilated capillaries. However, when large (≥ 1 cm), they can be symptomatic. The authors present the case of a diffuse capillary telangiectasia of the pons with HOD and a progressively declining course due to brainstem atrophy and enlarging cavitation of the lesion. The radiological evolution of an aggressive capillary telangiectasia has not been previously reported. https://thejns.org/doi/10.3171/CASE24746

Recurrent coarctation of the aorta (reCoA) can be treated via redo surgical or endovascular means with the latter option providing a shorter hospitalization, expedient recovery, and a lower incidence of early morbidity and mortality. A common barrier to endovascular repair with standard thoracic endografts is the proximity of the left subclavian artery (LSA) to the reCoA which has previously necessitated adjunctive open revascularization or additional off-label endovascular techniques. This case describes percutaneous endovascular repair of postsurgical reCoA and a poststenotic descending thoracic aortic aneurysm with an off-the-shelf thoracic branched endograft incorporating the LSA with successful resolution of aortic pressure gradient and complete aneurysm exclusion. Clinical Impact This case highlights the use of a commercially available, off-the-shelf endograft to treat thoracic aortic coarctation and associated aortic aneurysm. The paper highlights unique technical points for use of the Gore Thoracic Branch Endoprosthesis in the off-label treatment of thoracic aortic coarctation which is an ideal endovascular option for lesions in proximity to the left subclavian artery.

Background Over half of ICU survivors experience post intensive care syndrome (PICS). Few PICS clinics were operational in the United States at the onset of the COVID-19 pandemic. Here we describe early experience of such a clinic at a large academic medical center. Our objective was to describe the (a) model of care (b) clinic interventions (c) short-term cognitive, psychiatric, and functional outcomes (d) one-year outcomes of COVID-19 ICU survivors at the Cleveland Clinic post-ICU recovery clinic (PIRC). Methods We conducted a retrospective cohort study through a chart review of all patients seen in PIRC from April 2020 – December 2020. A total of 59 patients completed the visit with 49% being virtual, and 51% being in-person. The cohort was predominantly white (50.8%), and male (57.6%) with a median age of 58.2 years. We screened for cognitive and psychiatric impairments using several different validated questionnaires. Functional impairments were self-reported and detected after assessment by a physical therapist. Quantifiable clinic interventions were referrals, pharmacy medication reconciliation, and vaccine administration. One-year outcomes were health care utilization, and death. Results In our cohort, 36%, 39.6%, and 17% of patients screened positive for cognitive impairment, anxiety and/or depression, and PTSD respectively. 42.3% of patients had lower extremity mobility impairment. 57.6% of patients required at least one referral after clinic. Of the 67.9% of patients who were working and 93.9% driving prior to hospitalization, only 24.6% and 73.2% had returned to those activities, respectively. The most common pharmacy intervention was discontinuation of a medication no longer in use. By one year, 34% of patients had hospital re-admissions with 5% requiring the ICU. There were no deaths. Conclusions Adult survivors of COVID-19 critical illness have impairments in all PICS domains as well as high health care utilization in the first year after hospital discharge. MeSH Terms Post intensive care syndrome, COVID-19 Key Points/Summary Adult survivors of COVID-19 critical illness have impairments in all PICS domains as well as high health care utilization in the first year after hospital discharge. Post-ICU recovery clinics can help survivors with recovery.

Abstract Aims Functional tricuspid regurgitation (FTR) associated with degenerative mitral regurgitation (DMR) accentuates the severity of heart failure and is a marker of poor prognosis. Little is known about FTR associated with asymptomatic DMR. Methods and results The study included 1249 asymptomatic patients with moderate or severe DMR from the Mitral Regurgitation International Database-Quantitative (MIDA-Q) registry (mean age 64 ± 15 years, 25% female). Despite the asymptomatic status, absent/trivial FTR was noted in only 42%, mild in 34.5%, moderate in 11%, and severe FTR in 12.5%. Patients with higher FTR grades were older and more often female and had higher EuroScore II, larger left atrial volumes, and more atrial fibrillation (all P < 0.05). Patients with moderate or severe FTR had comparable 5-year survival (64 ± 4% and 65 ± 4%) and lower than patients with no/trivial FTR(96 ± 1%, P < 0.001). After adjustment for key prognostic factors, including age, left ventricular dilatation and dysfunction, DMR severity, left atrial dilatation, and pulmonary hypertension, ≥moderate FTR remained a strong predictor of mortality (HR = 2.08 [1.17–3.72], P = 0.013). Sensitivity analysis showed stable impact of ≥moderate FTR among patients with/without pulmonary hypertension, in women and men and for any other subset. For patients who underwent mitral valve surgery, post-operative survival rates were similar between those with no/trivial FTR and those with ≥moderate or severe FTR (P = 0.76), suggesting that surgery could reduce the excess mortality related to preoperative FTR. Conclusions Among asymptomatic patients with significant DMR, ≥moderate FTR is frequent and independently associated with higher mortality, independently of traditional guideline-based risk factors. These findings suggest that ≥moderate FTR should lead to consideration of early mitral surgery to improve outcomes.

AbstractEpilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”. Syndromes often present in an age‐dependent manner, carry both prognostic and treatment implications, and are associated with a specific range of comorbidities. Syndromes are most commonly identified in young children and are less frequent in adults. Syndrome identification assists clinicians in selecting the highest yield investigations, the most effective therapies, and allows them to give more accurate prognoses both with regards to seizure control and potential remission as well as expected, associated comorbidities. This review outlines how syndromes are organized and defined, highlighting the characteristic features of the more common entities.Plain Language SummaryEpilepsy syndromes are identifiable entities that are characterized by specific seizure type(s) and EEG findings. Identification of an epilepsy syndrome often provides a clue to the underlying cause, helps clinicians select the most effective treatments, and provides information on the likely outcome.

ABSTRACTBackgroundEfficient discharge planning is crucial for improving hospital capacity and patient care. Multidisciplinary rounds (MDRs) have been shown to enhance communication and coordination, yet their impact on resident teaching teams’ discharge efficiency is less studied.AimsTo examine how embedding dedicated case managers (CMs) and social workers (SWs) into internal medicine (IM) resident teams impacts discharge efficiency.MethodsWe conducted a retrospective cross‐sectional study at The Queen's Medical Center comparing two resident multidisciplinary teaching (MDT) teams that included dedicated CMs and SWs with two resident standard care teams over an 8‐month period (October 18 2023–June 25 2024). The outcomes assessed included length of stay (LOS), expected discharge date (EDD) accuracy, readmission rates and the rate of conditional discharge orders placed.ResultsA total of 1944 patients were included. The MDT teams showed significantly improved EDD accuracy (72.0% vs 66.7%, P = 0.0120) and more frequently placed conditional discharge orders (61.7% vs 43.8%, P < 0.0001) compared to standard care teams. No significant difference was observed in LOS or readmission rates.ConclusionEmbedding dedicated CMs and SWs within resident teams improved EDD accuracy and the rate of conditional discharge orders placed, suggesting an opportunity to integrate MDRs as a standard within IM residency training to enhance discharge planning efficiency.

Background: Cavotricuspid isthmus ablation (CTI) is a first line therapy in patients with typical atrial flutter. With the advent of Pulsed Field (PF) as a new energy source, we sought to evaluate the use of PF for CTI ablation. A systematic literature search was conducted on the use of PF for CTI-flutter up to December 2024. A meta-analysis was performed for studies reporting pooled data, while a patient-level summary was done for reports with available individual data. The mean number of PF applications, acute success rate, and prevalence of coronary vasospasm were evaluated. Results: Eleven studies with pooled data from 155 patients were included. All patients had an acute block of the CTI. The mean number of PFA applications was 7.78 (95% CI 6.53–9.48). The incidence of ST-elevation was 0.04% (95% CI 0-2.23%). Subclinical vasospasm was documented in 45% (95% CI 32%–59%) of patients who underwent periprocedural coronary angiography. Prophylactic use of nitrates showed a trend toward reducing the incidence of subclinical vasospasm (RR 0.24, 95% CI 0.06–1.06, p=0.059). Twelve cases with patient-level data were included; six reported complications, including ST elevation and conduction disturbances. Conclusion: PFA for CTI flutter demonstrates high acute success; however, evidence regarding the durability of the block is limited. Clinical vasospasm with ST segment elevation is uncommon but can lead to life-threatening complications. The incidence of subclinical vasospasm is high, and nitrates trend toward reducing this phenomenon. To date, the role of PFA for this condition appears to be limited.

Abstract Multimodal artificial intelligence (AI) has the potential to revolutionise healthcare by enabling the simultaneous processing and integration of various data types, including medical imaging, electronic health records, genomic information and real‐time data. This review explores the current applications and future potential of multimodal AI across healthcare, with a particular focus on orthopaedic surgery. In presurgical planning, multimodal AI has demonstrated significant improvements in diagnostic accuracy and risk prediction, with studies reporting an Area under the receiving operator curve presenting good to excellent performance across various orthopaedic conditions. Intraoperative applications leverage advanced imaging and tracking technologies to enhance surgical precision, while postoperative care has been advanced through continuous patient monitoring and early detection of complications. Despite these advances, significant challenges remain in data integration, standardisation, and privacy protection. Technical solutions such as federated learning (allowing decentralisation of models) and edge computing (allowing data analysis to happen on site or closer to site instead of multipurpose datacenters) are being developed to address these concerns while maintaining compliance with regulatory frameworks. As this field continues to evolve, the integration of multimodal AI promises to advance personalised medicine, improve patient outcomes, and transform healthcare delivery through more comprehensive and nuanced analysis of patient data. Level of Evidence: Level V.

Abstract Background Atypical teratoid rhabdoid tumor (ATRT) is a deadly central nervous system embryonal tumor caused by loss of SMARCB1, a core subunit of SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complexes. SMARCB1-deficient cancers are defined by loss of cell differentiation-associated enhancers, but how SWI/SNF interacts with other arbiters of cell differentiation (specifically lineage-specific transcription factors [TFs]) remains poorly understood. Methods We leveraged a multi-omics approach, patient-derived ATRT cells, and patient-derived orthotopic xenografts to investigate the interplay of SWI/SNF with lineage-specific TFs in a clinically relevant setting. Results We observe that an activating protein 1 (AP-1)-dependent transcriptional regulatory network is lost in ATRT, and AP-1 and lineage-specific TFs TEAD1 and ZIC2 require SMARCB1 for enhancer binding. SMARCB1-dependent SWI/SNF integrates transcriptional functions of lineage-specific TFs into a core regulatory circuit that depends on the AP-1 subunit c-JUN, whose expression is determined by a SMARCB1-dependent super-enhancer that is lost in ATRT-MYC. In the absence of SMARCB1, lineage-specific TFs are sequestered to promoters, where they maintain core transcriptional programs necessary for cell survival. Targeting residual, promoter-proximal TF activity by a protein degrader of the SWI/SNF ATPase SMARCA4 or small-molecule inhibitors that indirectly inhibit AP-1 and TEAD activity abrogates expression of these networks, reducing cell viability in vitro and prolonging survival in an orthotopic patient-derived xenograft model. Conclusions These results demonstrate SWI/SNF complexes are critical for lineage-specific TF binding and activity at both promoters and enhancers. In the context of ATRT, these findings reveal a previously underappreciated therapeutic vulnerability in targeting residual promoter-proximal TF function in ATRT.

Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome. Methods We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic MBOAT7 variants. Results All 15 patients had ID or developmental delay (DD). Twelve suffered from epilepsy, with mean age at seizure onset of 36 months (range = 2 months–6.5 years) and 10 of 12 showing signs of DD before seizure onset. Patients with epilepsy presented with focal motor seizures with impaired awareness ( n = 3), focal tonic–clonic seizures and epileptic spasms ( n = 1), focal to bilateral tonic–clonic seizures ( n = 1), unknown onset bilateral tonic–clonic seizures ( n = 2), myoclonic seizures ( n = 4), myoclonic–atonic seizures ( n = 1), atonic seizures ( n = 1), tonic seizures ( n = 1), and myoclonic absences ( n = 2). Seizure freedom was achieved in 66.7% (8/12), with variable antiseizure treatment regimes. We reviewed electroencephalograms of the patients with epilepsy. Background activity was normal in 64%, whereas 36% had either a generalized or a focal slowing. Interictal epileptiform discharges (IEDs) were reported in 83%. Generalized spikes/polyspikes were found in 53%, multifocal IEDs in 23%, and parasagittal focal IEDs in 26%. The most frequent abnormal brain MRI findings, reported in 58% of patients, included high‐intensity signal in T2 and fluid‐attenuated inversion recovery (FLAIR) sequences in dentate nuclei and globus pallidus. Biallelic missense variants seemed to be associated with better cognitive and motor outcomes compared to truncating variants and in‐frame deletions. Significance Biallelic MBOAT7 variants are associated with global developmental impairment in all affected patients and epilepsy in the majority. The seizure semiology is heterogenous. One third of our cohort had persistent seizures despite treatment. The most frequent MRI findings were hyperintensities in T2/FLAIR sequences in dentate nuclei and globus pallidus.