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1.
Brain ; 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38874456

RESUMEN

Successful surgical treatment of drug-resistant epilepsy traditionally relies on the identification of seizure onset zones (SOZs). Connectome-based analyses of electrographic data from stereo electroencephalography (SEEG) may empower improved detection of SOZs. Specifically, connectome-based analyses based on the Interictal Suppression Hypothesis (ISH) posit that when the patient is not having a seizure, SOZs are inhibited by non-SOZs through high inward connectivity and low outward connectivity. However, it is not clear whether there are other motifs that can better identify potential SOZs. Thus, we sought to use unsupervised machine learning to identify network motifs that elucidate SOZs and investigate if there is another motif that outperforms the ISH. Resting-state SEEG data from 81 patients with drug-resistant epilepsy undergoing a pre-surgical evaluation at Vanderbilt University Medical Center were collected. Directed connectivity matrices were computed using the alpha band (8-12Hz). Principal component analysis (PCA) was performed on each patient's connectivity matrix. Each patient's components were analyzed qualitatively to identify common patterns across patients. A quantitative definition was then used to identify the component that most closely matched the observed pattern in each patient. A motif characteristic of the Interictal Suppression Hypothesis (high-inward and low-outward connectivity) was present in all individuals and found to be the most robust motif for identification of SOZs in 64/81 (79%) patients. This principal component demonstrated significant differences in SOZs compared to non-SOZs. While other motifs for identifying SOZs were present in other patients, they differed for each patient, suggesting that seizure networks are patient specific, but the ISH is present in nearly all networks. We discovered that a potentially suppressive motif based on the Interictal Suppression Hypothesis was present in all patients, and it was the most robust motif for SOZs in 79% of patients. Each patient had additional motifs that further characterized SOZs, but these motifs were not common across all patients. This work has the potential to augment clinical identification of SOZs to improve epilepsy treatment.

2.
Epilepsia ; 65(2): 422-429, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38062633

RESUMEN

OBJECTIVES: Corpus callosotomy (CC) is used to reduce seizures, primarily in patients with generalized drug-resistant epilepsy (DRE). The invasive nature of the procedure contributes to underutilization despite its potential superiority to other palliative procedures. The goal of this study was to use a multi-institutional epilepsy surgery database to characterize the use of CC across participating centers. METHODS: Data were acquired from the Pediatric Epilepsy Research Consortium (PERC) Surgery Database, a prospective observational study collecting data on children 0-18 years referred for surgical evaluation of DRE across 22 U.S. pediatric epilepsy centers. Patient, epilepsy, and surgical characteristics were collected across multiple CC modalities. Outcomes and complications were recorded and analyzed statistically. RESULTS: Eighty-three patients undergoing 85 CC procedures at 14 participating epilepsy centers met inclusion criteria. Mean age at seizure onset was 2.3 years (0-9.4); mean age for Phase I evaluation and surgical intervention were 9.45 (.1-20) and 10.46 (.2-20.6) years, respectively. Generalized seizure types were the most common (59%). Complete CC was performed in 88%. The majority of CC procedures (57%) were via open craniotomy, followed by laser interstitial thermal therapy (LiTT) (20%) and mini-craniotomy/endoscopic (mc/e) (22%). Mean operative times were significantly longer for LiTT, whereas mean estimated blood loss was greater in open cases. Complications occurred in 11 cases (13%) and differed significantly between surgical techniques (p < .001). There was no statistically significant difference in length of postoperative stay across approaches. Mean follow-up was 12.8 months (range 1-39). Favorable Engel outcomes were experienced by 37 (78.7%) of the patients who underwent craniotomy, 10 (58.8%) with LiTT, and 12 (63.2%) with mc/e; these differences were not statistically significant. SIGNIFICANCE: CC is an effective surgical modality for children with DRE. Regardless of surgical modality, complication rates are acceptable and seizure outcomes generally favorable. Newer, less-invasive, surgical approaches may lead to increased adoption of this efficacious therapeutic option for pediatric DRE.


Asunto(s)
Epilepsia Refractaria , Epilepsia , Terapia por Láser , Psicocirugía , Humanos , Niño , Preescolar , Resultado del Tratamiento , Epilepsia Refractaria/cirugía , Convulsiones/cirugía , Epilepsia/cirugía , Terapia por Láser/métodos , Cuerpo Calloso/cirugía , Estudios Retrospectivos
3.
J Vasc Interv Radiol ; 35(1): 15-22.e2, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37678752

RESUMEN

PURPOSE: To examine the effect of end-stage renal disease (ESRD) on the likelihood of major adverse limb events (MALEs) in patients with Rutherford Category 4-6 critical limb ischemia (CLI) who underwent percutaneous vascular intervention (PVI). MATERIALS AND METHODS: Two contemporaneous cohorts of patients who underwent PVI for symptomatic CLI from 2012 to 2022, differing in ESRD status, were matched using propensity score methods. This database identified 628 patients who underwent 1,297 lower extremity revascularization procedures; propensity score matching yielded 147 patients (180 limbs, 90 limbs in each group). Kaplan-Meier and Cox proportional hazard analyses were used to assess the effect of ESRD status on MALEs, stratified into major amputation (further stratified into above-knee amputation and below-knee amputation [BKA]) and reintervention (PVI or bypass). RESULTS: After PVI, 31.3% of patients in the matched cohorts experienced a MALE (45.7% ESRD vs 18.2% non-ESRD), and 15.6% experienced a major amputation (27.1% ESRD vs 5.2% non-ESRD). Cox proportional hazards analysis revealed that ESRD was an independent predictor of MALE (hazard ratio [HR], 3.15; 95% CI, 1.58-6.29; P = .001), major amputation (HR, 7.00; 95% CI, 2.06-23.79; P = .002), and BKA (HR, 7.56; 95% CI, 1.71-33.50; P = .008). CONCLUSIONS: ESRD is strongly predictive of MALE and major amputation risk, specifically BKA, in patients undergoing PVI for Rutherford Category 4-6 CLI. These patients warrant closer follow-up, and new methods may become necessary to predict and further reduce their amputation risk.


Asunto(s)
Fallo Renal Crónico , Enfermedad Arterial Periférica , Masculino , Humanos , Factores de Riesgo , Medición de Riesgo , Resultado del Tratamiento , Recuperación del Miembro , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/terapia , Extremidad Inferior/irrigación sanguínea , Isquemia/diagnóstico por imagen , Isquemia/cirugía , Enfermedad Arterial Periférica/diagnóstico por imagen , Enfermedad Arterial Periférica/cirugía , Estudios Retrospectivos
4.
Brain ; 146(7): 2828-2845, 2023 07 03.
Artículo en Inglés | MEDLINE | ID: mdl-36722219

RESUMEN

Why are people with focal epilepsy not continuously having seizures? Previous neuronal signalling work has implicated gamma-aminobutyric acid balance as integral to seizure generation and termination, but is a high-level distributed brain network involved in suppressing seizures? Recent intracranial electrographic evidence has suggested that seizure-onset zones have increased inward connectivity that could be associated with interictal suppression of seizure activity. Accordingly, we hypothesize that seizure-onset zones are actively suppressed by the rest of the brain network during interictal states. Full testing of this hypothesis would require collaboration across multiple domains of neuroscience. We focused on partially testing this hypothesis at the electrographic network level within 81 individuals with drug-resistant focal epilepsy undergoing presurgical evaluation. We used intracranial electrographic resting-state and neurostimulation recordings to evaluate the network connectivity of seizure onset, early propagation and non-involved zones. We then used diffusion imaging to acquire estimates of white-matter connectivity to evaluate structure-function coupling effects on connectivity findings. Finally, we generated a resting-state classification model to assist clinicians in detecting seizure-onset and propagation zones without the need for multiple ictal recordings. Our findings indicate that seizure onset and early propagation zones demonstrate markedly increased inwards connectivity and decreased outwards connectivity using both resting-state (one-way ANOVA, P-value = 3.13 × 10-13) and neurostimulation analyses to evaluate evoked responses (one-way ANOVA, P-value = 2.5 × 10-3). When controlling for the distance between regions, the difference between inwards and outwards connectivity remained stable up to 80 mm between brain connections (two-way repeated measures ANOVA, group effect P-value of 2.6 × 10-12). Structure-function coupling analyses revealed that seizure-onset zones exhibit abnormally enhanced coupling (hypercoupling) of surrounding regions compared to presumably healthy tissue (two-way repeated measures ANOVA, interaction effect P-value of 9.76 × 10-21). Using these observations, our support vector classification models achieved a maximum held-out testing set accuracy of 92.0 ± 2.2% to classify early propagation and seizure-onset zones. These results suggest that seizure-onset zones are actively segregated and suppressed by a widespread brain network. Furthermore, this electrographically observed functional suppression is disproportionate to any observed structural connectivity alterations of the seizure-onset zones. These findings have implications for the identification of seizure-onset zones using only brief electrographic recordings to reduce patient morbidity and augment the presurgical evaluation of drug-resistant epilepsy. Further testing of the interictal suppression hypothesis can provide insight into potential new resective, ablative and neuromodulation approaches to improve surgical success rates in those suffering from drug-resistant focal epilepsy.


Asunto(s)
Epilepsia Refractaria , Epilepsias Parciales , Humanos , Electroencefalografía/métodos , Convulsiones , Encéfalo
5.
Arch Gynecol Obstet ; 309(1): 175-181, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-36697853

RESUMEN

PURPOSE: To evaluate patients' acceptance of a universal transvaginal ultrasound cervical length (CL) screening program and the feasibility of initiating treatment with progesterone in a clinical setting in women found to have a short cervix. METHODS: An observational, pragmatic cohort study was conducted at one tertiary care facility from 2012-2015, involving eligible women with singleton pregnancies who accepted and underwent second-trimester CL screening. The primary outcomes were the percentage of women who were eligible and accepting of screening, compliance with progesterone treatment, and the screening value of TVCL in predicting SPTB. Secondary outcomes were the number of women who received progesterone treatment and the rates of SPTB. RESULTS: Overall cervical length screening acceptance rate was found to be 82.5%. Of the 797 women that underwent screening, 21 women (2.6%) had a TVCL < 25 mm, of whom nine had a TVCL < 20.0 mm. Nineteen of the 21 women with a TVCL < 25 mm were treated with progesterone, with a 94.7% compliance rate. Delivery outcomes were obtained for 767 women. Of those with a TVCL < 25 mm, there was a 35% rate of SPTB as opposed to a 6.3% SPTB rate in those with TVCL > 25 mm. The negative predictive value for SPTB with a TVCL 25 mm or greater was 94.0%. CONCLUSION: Universal cervical length screening was successfully implemented in 82.5% of the patient population with a high compliance rate with progesterone treatment. Furthermore, there was a higher rate of SPTB in those with a shorter cervix. Based on our outcomes obtained in an observational and pragmatic manner, we showed that incorporating second trimester transvaginal cervical length screening into routine clinical practice is readily accepted and, with the addition of vaginal progesterone treatment, may reduce the rate of prematurity.


Asunto(s)
Nacimiento Prematuro , Progesterona , Embarazo , Humanos , Femenino , Segundo Trimestre del Embarazo , Progesterona/uso terapéutico , Cuello del Útero/diagnóstico por imagen , Nacimiento Prematuro/epidemiología , Estudios de Cohortes , Medición de Longitud Cervical
6.
J Vasc Interv Radiol ; 34(3): 436-444, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36414115

RESUMEN

PURPOSE: To evaluate differences in arteriographic findings and outcomes after embolization among patients with a suspected iatrogenic renal arterial injury (IRAI). MATERIALS AND METHODS: Patients at the authors' institution who underwent renal arteriography for suspected IRAIs after partial nephrectomy, biopsy, or percutaneous access over a 20-year period were included. Records, imaging, and outcomes were reviewed. Data analysis was performed using the Fisher exact or Kruskal-Wallis test. RESULTS: Ninety arteriograms were performed on 83 patients after partial nephrectomy (n = 32), biopsy (n = 27), or percutaneous access (n = 24), including for nephrostomy/ureterostomy and stone removal. The median number of days between the index procedure and arteriogram was highest (15 days) after partial nephrectomy and lowest (5 days) after biopsy (P = .0001). Embolization was performed during 76% of arteriograms. If prearteriographic imaging showed positive results for IRAIs, embolization was performed in 67% versus 33% if imaging showed negative results (P = .005). The transfusion rate was higher after biopsy than after partial nephrectomy or percutaneous access (P = .002). Acute kidney injury after arteriogram occurred in 7% of patients; however, all returned to baseline by 1 week. CONCLUSIONS: Despite the different mechanism of IRAIs in partial nephrectomy, biopsy, and percutaneous access, arteriographic findings and outcomes were overall similar among groups. Prearteriographic imaging can help identify IRAIs but cannot supersede the clinical judgment regarding indication for embolization. IRAIs can present acutely or after a long interim, although patients who underwent biopsy presented earlier and more frequently required a blood transfusion. IRAIs can be treated with embolization without permanent deleterious effects on renal function.


Asunto(s)
Traumatismos Abdominales , Lesión Renal Aguda , Embolización Terapéutica , Humanos , Arteria Renal/lesiones , Hemorragia/terapia , Angiografía , Embolización Terapéutica/métodos , Nefrectomía/métodos , Traumatismos Abdominales/terapia , Enfermedad Iatrogénica , Estudios Retrospectivos
7.
Epilepsy Behav ; 145: 109351, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37437392

RESUMEN

BACKGROUND: The Accreditation Council for Graduate Medical Education (ACGME) milestones state that neurology residents should be able to "interpret common EEG abnormalities, recognize normal EEG variants, and create a report." Yet, recent studies have shown that only 43% of neurology residents express confidence in interpreting EEG without supervision and can recognize less than half of normal and abnormal EEG patterns. Our objective was to create a curriculum to improve both confidence and competence in reading EEGs. METHODS: At Vanderbilt University Medical Center (VUMC), adult and pediatric neurology residents have required EEG rotations in their first and second years of neurology residency and can choose an EEG elective in their third year. A curriculum consisting of specific learning objectives, self-directed modules, EEG lectures, epilepsy-related conferences, supplemental educational material, and tests was created for each of the three years of training. RESULTS: Since the implementation of an EEG curriculum at VUMC from September 2019 until November 2022, 12 adult and 21 pediatric neurology residents completed pre- and post-rotation tests. Among the 33 residents, there was a statistically significant improvement in post-rotation test scores, with a mean score improvement of 17% (60.0 ± 12.9 to 77.9 ± 11.8, n = 33, p < 0.0001). When differentiated by training, the mean improvement of 18.8% in the adult cohort was slightly higher than in the pediatric cohort, 17.3%, though it was not significantly different. Overall improvement was significantly increased in the junior resident cohort with a 22.6% improvement in contrast to 11.5% in the senior resident cohort (p = 0.0097 by Student's t-test, n = 14 junior residents and 15 senior residents). DISCUSSION: With the creation of an EEG curriculum specific to each year of neurology residency, adult and pediatric neurology residents demonstrated a statistically significant mean improvement between pre- and post-rotation test scores. The improvement was significantly higher in junior residents in contrast to senior residents. Our structured and comprehensive EEG curriculum objectively improved EEG knowledge in all neurology residents at our institution. The findings may suggest a model which other neurology training programs may consider for the implementation of a similar curriculum to both standardize and address gaps in resident EEG education.


Asunto(s)
Internado y Residencia , Neurología , Humanos , Adulto , Niño , Curriculum , Educación de Postgrado en Medicina , Neurología/educación , Electroencefalografía , Competencia Clínica
8.
Epilepsy Behav ; 147: 109412, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37666204

RESUMEN

OBJECTIVE: This study evaluated prescription cannabidiol (CBD) outcomes during the first 12 months of therapy. METHODS: A single-center, prospective cohort study was performed including patients prescribed CBD from January 2019 - April 2020, excluding clinical trial patients and those using external specialty pharmacy services. The primary outcome wasepilepsy-related emergency healthcare service (EHS) use within 12 months of initation. Secondary outcomes included prescription CBD discontinuation rate and reason and concomitant anti-seizure medication (ASM) use. A multiple logistic regression model evaluated the odds of EHS use, adjusting for initial concomitant ASM count, age, and insurance type. RESULTS: The 136 patients included were 85% white, 50% female, and 68% pediatric. EHS utilization occurred in 37% (n = 50) of patients; 29 patients (21%, n = 20 pediatric, n = 9 adult) had at least one emergency department (ED) visit, 9 patients (7%) had two or more; 30 patients (22%, n = 22 pediatric, n = 8 adult) had at least one hospitalizaion. Median time to first ED and hospitalization was 69 (IQR 31-196) and 104 (IQR 38-179) days, respectively. Prescription CBD was discontinued in 31 patients (23%, n = 18 pediatric, n = 13 adult), due to major side effects (n = 12, 39%), common side effects (n = 11, 36%), and unsatisfactory response (n = 11, 36%). There was no significant change in concomitant ASM use. CONCLUSION: Despite potential benefits of prescription CBD, many patients utilize EHSs in the first 12 months of treatment with minimal changes in concomitant ASM use.

9.
Epilepsy Behav ; 139: 109061, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36587487

RESUMEN

OBJECTIVE: To review clinical and neuropsychological characteristics and natural history of a series of patients with temporal lobe epilepsy (TLE) and anterior temporal encephaloceles (ATE) and compare them to a similar series of TLE patients with mesial temporal sclerosis (MTS) to identify characteristics suggestive of ATE-related epilepsy. METHODS: Patients with epilepsy and ATE were identified via clinic encounters and consensus epilepsy surgery conference at a Level 4 epilepsy center. The drug-resistant subset of these patients who underwent epilepsy surgery (twenty-two of thirty-five) were compared to age- and laterality-matched patients with MTS. Clinical, neuropsychological, electrophysiologic, and surgical data were abstracted through chart review. RESULTS: In comparison with MTS, ATE patients were more often female, had significantly later onset of epilepsy, and did not have prior febrile seizures. In addition, ATE patients were more likely to have chronic headaches and other historical features consistent with idiopathic intracranial hypertension (IIH). Failure to identify ATE on initial imaging was common. Most patients had limited temporal cortical resections sparing mesial structures. Of the twenty ATE patients who had a long-term postsurgical follow-up, seventeen (85%) had International League Against Epilepsy (ILAE) Class 1 or 2 outcomes. SIGNIFICANCE: A shorter duration of epilepsy, female gender, and lack of history of febrile seizures may suggest ATE as an etiology of refractory TLE in adults. Targeted encephalocele resections can result in seizure freedom, underscoring the importance of encephalocele identification.


Asunto(s)
Epilepsia del Lóbulo Temporal , Esclerosis del Hipocampo , Convulsiones Febriles , Adulto , Femenino , Humanos , Encefalocele/complicaciones , Encefalocele/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/cirugía , Imagen por Resonancia Magnética , Estudios Retrospectivos , Esclerosis/complicaciones , Convulsiones Febriles/complicaciones , Resultado del Tratamiento , Masculino
10.
Epilepsia ; 63(1): 96-107, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34778945

RESUMEN

OBJECTIVE: Drug-resistant epilepsy (DRE) occurs at higher rates in children <3 years old. Epilepsy surgery is effective, but rarely utilized in young children despite developmental benefits of early seizure freedom. The present study aims to identify unique patient characteristics and evaluation strategies in children <3 years old who undergo epilepsy surgery evaluation as a means to assess contributors and potential solutions to health care disparities in this group. METHODS: The Pediatric Epilepsy Research Consortium Epilepsy Surgery Database, a multicentered, cross-sectional collaboration of 21 US pediatric epilepsy centers, collects prospective data on children <18 years of age referred for epilepsy surgery evaluation. We compared patient characteristics, diagnostic utilization, and surgical treatment between children <3 years old and those older undergoing initial presurgical evaluation. We evaluated patient characteristics leading to delayed referral (>1 year) after DRE diagnosis in the very young. RESULTS: The cohort included 437 children, of whom 71 (16%) were <3 years of age at referral. Children evaluated before the age of 3 years more commonly had abnormal neurological examinations (p = .002) and daily seizures (p = .001). At least one ancillary test was used in 44% of evaluations. Fifty-nine percent were seizure-free following surgery (n = 34), with 35% undergoing limited focal resections. Children with delayed referrals more often had focal aware (p < .001) seizures and recommendation for palliative surgeries (p < .001). SIGNIFICANCE: There are relatively few studies of epilepsy surgery in the very young. Surgery is effective, but may be disproportionally offered to those with severe presentations. Relatively low utilization of ancillary testing may contribute to reduced surgical therapy for those without evident lesions on magnetic resonance imaging. Despite this, a sizeable portion of patients have favorable outcome after focal epilepsy surgery resections.


Asunto(s)
Epilepsia Refractaria , Epilepsia , Niño , Preescolar , Estudios Transversales , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/cirugía , Electroencefalografía/métodos , Epilepsia/diagnóstico , Epilepsia/cirugía , Humanos , Estudios Prospectivos , Estudios Retrospectivos , Convulsiones/cirugía , Tiempo de Tratamiento , Resultado del Tratamiento
11.
Epilepsy Behav ; 137(Pt A): 108956, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36327644

RESUMEN

PURPOSE: To ascertain the rates of 30-day readmissions and emergency department presentations among pediatric patients with an index admission for functional seizures. METHOD: A retrospective chart review of pediatric patients with an index discharge from the pediatric epilepsy monitoring unit (EMU) or general neurology service for functional seizures. Data collected included demographics, comorbidities, risk factors, and treatment during the index admission. RESULTS: A total of one hundred and two patients were included, of which nearly one in five had a 30-day readmission or emergency department presentation. Index admission to the general neurology service was independently associated with more re-presentations to the hospital (t = 3.26, p < 0.0015). The univariate analysis indicated that cognitive impairment and autism were associated with a lower likelihood of readmission, while a neurology referral and being started on an anti-seizure medication were associated with a greater likelihood of readmission. CONCLUSION: A substantial proportion of pediatric patients with FS return to the hospital within 30 days of discharge. Our data suggest that patients admitted to the EMU service have a lower likelihood of readmission. We speculate that this may be due to differences in patient clinical characteristics as well as the comprehensiveness of the diagnostic evaluation and management in the EMU compared to the general neurology service.


Asunto(s)
Alta del Paciente , Readmisión del Paciente , Niño , Humanos , Estudios Retrospectivos , Hospitalización , Factores de Riesgo , Electroencefalografía
12.
Epilepsy Behav ; 133: 108784, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35752054

RESUMEN

The benefits of continuous electroencephalography (cEEG) monitoring in the intensive care unit (ICU) are increasingly appreciated, though expanding indications for cEEG may strain resources. The current standard of care in babies with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH) includes cEEG monitoring throughout the entire TH and rewarming process (at least 72 h). Recent cEEG data demonstrate that most seizures occur within the first 24 h of monitoring. We hypothesized that abnormal head imaging and EEG background could stratify seizure risk in babies with HIE undergoing TH to identify candidates for early cEEG discontinuation. In this retrospective review of 126 neonates undergoing TH and cEEG, we identified seizures in 38 (30%) neonates, 33 (87%) of whom seized within the first 24 h of cEEG monitoring. EEG background was graded and demonstrated that 90% of neonates with seizures had a moderately/markedly abnormal background versus 33% of neonates who did not seize (p < 0.0001). Additionally, while head ultrasound (HUS) obtained before EEG did not stratify seizure risk alone, no neonates with both a normal/mildly abnormal EEG background and a normal HUS (0/25) experienced seizures in contrast to 60% (24/40) neonates with both an abnormal EEG background and an abnormal HUS (p < 0.0001). Our data suggest that neonates with abnormal EEG backgrounds and abnormal HUS should be monitored for seizures throughout TH and rewarming, while neonates with normal/mildly abnormal EEG backgrounds and normal HUS are at low risk of seizures after 24 h of monitoring, and thus would be candidates for early cEEG discontinuation.


Asunto(s)
Hipotermia Inducida , Hipotermia , Hipoxia-Isquemia Encefálica , Electroencefalografía/métodos , Humanos , Hipotermia/terapia , Hipotermia Inducida/métodos , Hipoxia-Isquemia Encefálica/complicaciones , Hipoxia-Isquemia Encefálica/diagnóstico por imagen , Hipoxia-Isquemia Encefálica/terapia , Lactante , Estudios Retrospectivos , Convulsiones/diagnóstico por imagen , Convulsiones/etiología , Convulsiones/terapia
13.
Int J Mol Sci ; 23(17)2022 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-36077081

RESUMEN

Mutations in GABAA receptor subunit genes (GABRs) are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in GABRG2 and updates the pathophysiology and treatment development for mutations in DEEs based on recent advances. Mutations in GABRs, especially in GABRA1, GABRB2, GABRB3, and GABRG2, impair GABAergic signaling and are frequently associated with DEEs such as Dravet syndrome and Lennox-Gastaut syndrome, as GABAergic signaling is critical for early brain development. We here present a novel association of a microdeletion of GABRG2 with a diagnosed DEE phenotype. We characterized the clinical phenotype and underlying mechanisms, including molecular genetics, EEGs, and MRI. We then compiled an update of molecular mechanisms of GABR mutations, especially the mutations in GABRB3 and GABRG2 attributed to DEEs. Genetic therapy is also discussed as a new avenue for treatment of DEEs through employing antisense oligonucleotide techniques. There is an urgent need to define treatment targets and explore new treatment paradigms for the DEEs, as early deployment could alleviate long-term disabilities and improve quality of life for patients. This study highlights biomolecular targets for future therapeutic interventions, including via both pharmacological and genetic approaches.


Asunto(s)
Encefalopatías , Receptores de GABA-A , Humanos , Mutación , Núcleo Familiar , Fenotipo , Calidad de Vida , Receptores de GABA-A/genética , Receptores de GABA-A/metabolismo
14.
J Vasc Interv Radiol ; 31(6): 993-999.e1, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32376177

RESUMEN

PURPOSE: To compare outcomes of transradial access for endovascular treatment of nonmaturing hemodialysis fistulae compared to brachial arteriography followed by unidirectional or bidirectional fistula access for intervention. MATERIALS AND METHODS: In this institutional review board-approved, retrospective, case-control study, 56 consecutive patients with nonmaturing arteriovenous fistulae underwent percutaneous intervention between 2015 and 2018. The transradial group (n = 28) underwent radial artery access for diagnostic fistulography and intervention. The control group (n = 28) underwent retrograde brachial artery access for fistulography followed by unidirectional/bidirectional fistula access for intervention. Both groups had similar demographics, fistula characteristics, and stenosis locations. RESULTS: Fewer punctures were required in the transradial group compared to controls (1.2 vs 2.4, P < .0001), and procedure time was shorter (64.9 vs 91.3 minutes, P = .0016). Anatomic, technical, and clinical success rates trended higher in the transradial group compared to controls (93% vs 86%, 96% vs 89%, and 82% vs 64%, respectively). Nonmaturation resulting in fistula abandonment was lower in the transradial group (3.7% vs 25%, P = .025). Primary unassisted patency at 3, 6, and 12 months was 77.1% ± 8.2%, 73.1% ± 8.7%, and 53.3% ± 10.6% in the transradial group, respectively, and 63.0% ± 9.3%, 55.6% ± 9.6%, and 48.1% ± 9.6% in the control group, respectively (P = .76). Primary assisted patency at 12 months was 92.3% ± 5.3% in the transradial group compared to 61.8% ± 9.6% at 12 months in the control group (P = .021). No major complications occurred. Minor complications were lower in the transradial group than in the control group (14% vs 39%, P = .068). CONCLUSIONS: Treatment of nonmaturing fistulae via a transradial approach was safe, improved midterm patency, and was associated with lower rates of fistula abandonment.


Asunto(s)
Derivación Arteriovenosa Quirúrgica/efectos adversos , Arteria Braquial , Cateterismo Periférico , Procedimientos Endovasculares , Oclusión de Injerto Vascular/terapia , Arteria Radial , Diálisis Renal , Adulto , Anciano , Anciano de 80 o más Años , Arteria Braquial/diagnóstico por imagen , Arteria Braquial/fisiopatología , Cateterismo Periférico/efectos adversos , Procedimientos Endovasculares/efectos adversos , Femenino , Oclusión de Injerto Vascular/diagnóstico por imagen , Oclusión de Injerto Vascular/etiología , Oclusión de Injerto Vascular/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Punciones , Arteria Radial/diagnóstico por imagen , Arteria Radial/fisiopatología , Estudios Retrospectivos , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento , Grado de Desobstrucción Vascular
15.
J Vasc Interv Radiol ; 31(6): 1010-1017.e3, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32376183

RESUMEN

PURPOSE: To develop and validate a deep learning model based on routine magnetic resonance (MR) imaging obtained before uterine fibroid embolization to predict procedure outcome. MATERIALS AND METHODS: Clinical data were collected on patients treated with uterine fibroid embolization at the Hospital of the University of Pennsylvania from 2007 to 2018. Fibroids for each patient were manually segmented by an abdominal radiologist on a T1-weighted contrast-enhanced (T1C) sequence and a T2-weighted sequence of MR imaging obtained before and after embolization. A residual convolutional neural network (ResNet) model to predict clinical outcome was trained using MR imaging obtained before the procedure. RESULTS: Inclusion criteria were met by 727 fibroids in 409 patients. At clinical follow-up, 85.6% (n = 350) of 409 patients (590 of 727 fibroids; 81.1%) experienced symptom resolution or improvement, and 14.4% (n = 59) of 409 patients (137 of 727 fibroids; 18.9%) had no improvement or worsening symptoms. The T1C trained model achieved a test accuracy of 0.847 (95% confidence interval [CI], 0.745-0.914), sensitivity of 0.932 (95% CI, 0.833-0.978), and specificity of 0.462 (95% CI, 0.232-0.709). In comparison, the average of 4 radiologists achieved a test accuracy of 0.722 (95% CI, 0.609-0.813), sensitivity of 0.852 (95% CI, 0.737-0.923), and specificity of 0.135 (95% CI, 0.021-0.415). CONCLUSIONS: This study demonstrates that deep learning based on a ResNet model achieves good accuracy in predicting outcome of uterine fibroid embolization. If further validated, the model may help clinicians better identify patients who can most benefit from this therapy and aid clinical decision making.


Asunto(s)
Aprendizaje Profundo , Diagnóstico por Computador , Interpretación de Imagen Asistida por Computador , Leiomioma/diagnóstico por imagen , Leiomioma/terapia , Imagen por Resonancia Magnética , Embolización de la Arteria Uterina , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/terapia , Adulto , Anciano , Toma de Decisiones Clínicas , Femenino , Humanos , Persona de Mediana Edad , Variaciones Dependientes del Observador , Philadelphia , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Estudios Retrospectivos , Resultado del Tratamiento
16.
J Obstet Gynaecol ; 40(3): 388-394, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31496350

RESUMEN

Ultrasonography (USG) is the first and best modality for diagnosis of the adnexal torsion. But frequently in clinical practice, computed tomography (CT) scan becomes the first acquired modality as adnexal torsion mimics other non-gynaecological conditions. This retrospective study evaluated the diagnostic performance of CT as a modality in adnexal torsion. Thirty cases of surgically proven adnexal torsion with preoperative CT scans were included. Changes in the ovary, fallopian tube, uterine axis and other features were documented and analysed. At least one positive CT sign was seen in all 30 adnexal torsion patients. Twisted pedicle was seen in 100% cases. Peripherally displaced follicles in 57.1%, associated mass in 93.3%, ovarian hyperdensity in 46.4%, hydrosalpinx in 46.7%, change in uterine axis in 43.4% and ascites in 73.3%. CT of the pelvis can diagnose ovarian torsion when the described signs are carefully looked for.Impact statementWhat is already known on this subject? Adnexal torsion is an surgical emergency where delayed diagnosis may reduce the ovarian salvageability rate. USG has been a trusted modality for imaging the adnexa and associated pathologies such as torsion. It is a general assumption that CT is not an apt modality for diagnosis of torsion.What the results of this study add? The results of this study emphasise that CT can be used to diagnose adnexal torsion when the signs described are carefully looked for. A normal appearing ovary on CT can rule out torsion as at least one sign will be positive in such cases.What the implications are of these findings for clinical practice and/or further research? As adnexal torsion clinically mimics non-gynaecological conditions such as ureteric colic, appendicitis, etc. where CT is the initial and only available modality, applying the results of our study can aid in diagnosis of adnexal torsion on CT itself, prompting immediate surgical referral and thereby reducing the delay by not acquiring or confirming by another modality such as USG.


Asunto(s)
Anexos Uterinos/anomalías , Enfermedades de los Anexos/diagnóstico por imagen , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Anomalía Torsional/diagnóstico por imagen , Anomalías Urogenitales/diagnóstico por imagen , Anexos Uterinos/diagnóstico por imagen , Adolescente , Adulto , Anciano , Niño , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Ultrasonografía/métodos , Ultrasonografía/estadística & datos numéricos , Adulto Joven
17.
Clin Transplant ; 33(2): e13465, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30561770

RESUMEN

INTRODUCTION: Totally implantable venous access devices (TIVADs) are the preferred devices for patients with advanced lung disease who require long-term venous access. The primary purpose of this study was to describe the natural history of TIVADs left in place at the time of transplant. METHODS: This multicenter retrospective cohort study evaluated pediatric and adult lung transplant recipients from 5/5/2005 to 12/31/17 with pretransplant TIVAD. Incident rates (IR) for infectious and mechanical complications were calculated. Poisson regression models were used to identify TIVAD characteristics associated with complications. RESULTS: Of 1253 transplant recipients, 82 (6.5%) had pretransplant TIVAD. Five (6.1%) TIVADs were removed at transplantation. Fifty-five (67.1%) TIVADs were eventually removed, most commonly because they were no longer required (50.9%) or because of infection (25.5%). Overall incident rates (IR) of infectious or mechanical complications were 0.33 and 0.14, respectively. The IR of infection was highest within one year of transplant, particularly during the index hospitalization (IR = 1.67). Youngest tertile (<22 years) had the lowest incident rate ratio of TIVAD infections (IRR = 0.22). CONCLUSION: Although TIVAD complication rates in lung transplant recipients are similar to non-transplant and other immunocompromised patients, TIVAD removal at transplant or within the first post-transplant year may minimize the risk of TIVAD infections.


Asunto(s)
Cateterismo Venoso Central/efectos adversos , Catéteres de Permanencia/efectos adversos , Trasplante de Pulmón/efectos adversos , Complicaciones Posoperatorias , Adolescente , Adulto , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Adulto Joven
18.
J Vasc Interv Radiol ; 30(7): 1027-1033.e3, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31176590

RESUMEN

PURPOSE: To compare the overall survival (OS) of patients receiving cryoablation versus heat-based thermal ablation for clinical T1a renal cell carcinoma (RCC) in a large national cohort. MATERIALS AND METHODS: Patients with RCC from 2004 to 2014 who were treated with ablation were identified from the National Cancer Database. OS was estimated with the use of the Kaplan-Meier method and evaluated by means of log-rank test, univariate and multivariate Cox proportional hazard regression, and propensity score-matched analysis. RESULTS: A total of 3,936 patients who received cryoablation and 2,322 who received heat-based thermal ablation met the inclusion criteria. The mean age was 67 ± 12 year, and the mean size of tumors was 25 ± 8 mm. The 3-, 5-, and 10-year survival rates were, respectively, 91%, 82%, and 62% for cryoablation and 89%, 81%, and 55% for heat-based thermal ablation. After propensity score matching, cryoablation was associated with longer OS compared with heat-based thermal ablation (median 11.3 vs 10.4 years; hazard ratio 1.175, 95% CI 1.03-1.341; P = .016). For patients with tumors ≤2 cm, propensity score-matched analyses demonstrated no significant difference between the 2 treatment groups (P = .772). CONCLUSIONS: Overall, cryoablation may be associated with longer OS compared with heat-based thermal ablation in cT1a RCC. No significant difference in survival rates was observed between the 2 treatments for patients with tumor sizes ≤2 cm. Owing to the inherent limitations of this study, further study with details on technology, local outcome, and complications is needed.


Asunto(s)
Técnicas de Ablación , Carcinoma de Células Renales/cirugía , Criocirugía , Calor/uso terapéutico , Neoplasias Renales/cirugía , Técnicas de Ablación/efectos adversos , Técnicas de Ablación/mortalidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Renales/mortalidad , Carcinoma de Células Renales/patología , Criocirugía/efectos adversos , Criocirugía/mortalidad , Bases de Datos Factuales , Femenino , Calor/efectos adversos , Humanos , Neoplasias Renales/mortalidad , Neoplasias Renales/patología , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento , Carga Tumoral , Estados Unidos , Adulto Joven
19.
Gastroenterol Nurs ; 42(4): 375-385, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31365426

RESUMEN

Patients with inflammatory bowel disease have adopted medical jargon terms of "flare" and "remission," but what they mean by these terms is ill-defined and may have implications for nurse-patient communication and treatment expectancy. The aim of this study was to elicit patients' understanding of "flare" and "remission." Individuals with self-reported inflammatory bowel disease were recruited through social media. A web-based survey, with closed and open-ended questions, was administered. Conventional content analysis was used to evaluate respondents' perceptions of jargon terms. A word cloud was generated to augment analysis by visualization of word use frequency. A majority of the 34 respondents had a symptom-focused understanding and described these terms as alternating states. Various symptoms were understood to signify "flare," which was largely attributed to lifestyle factors. Corroborated by the word cloud, there was rare mention of inflammation or tissue damage. This study demonstrates that an understanding of "flare" and "remission" by patients with inflammatory bowel disease is largely symptom-based. The role of inflammation, medication failure, and targets of inflammatory bowel disease treatment beyond symptom control are not currently well known to patients with inflammatory bowel disease. To create a shared understanding of symptoms and treatment goals between the patient and the nurse, patient education on emerging expectations of inflammatory bowel disease care should be prioritized.


Asunto(s)
Progresión de la Enfermedad , Conocimientos, Actitudes y Práctica en Salud , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/fisiopatología , Medición de Resultados Informados por el Paciente , Adolescente , Adulto , Productos Biológicos/uso terapéutico , Comprensión , Femenino , Humanos , Masculino , Persona de Mediana Edad , Investigación Cualitativa , Remisión Espontánea , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Perfil de Impacto de Enfermedad , Encuestas y Cuestionarios , Adulto Joven
20.
J Vasc Interv Radiol ; 29(3): 376-382, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29395899

RESUMEN

PURPOSE: To establish a rate of nonintervention in patients referred for hemodialysis access fistulography and to report clinical and fistulographic variables associated with nonintervention. MATERIALS AND METHODS: Encounters for fistulography were reviewed from 2001 to 2016 to determine annual rates of nontreatment over 15 years. Next, an access database was used to retrospectively identify patients undergoing fistulography from 2010 to 2016. Patients who underwent fistulography without intervention (angioplasty or stent placement) served as the nontreatment group (NTG; n = 76). Patients who underwent fistulography with intervention served as the control group (CG; n = 77). Patients with thrombosed accesses were excluded. Clinical indications for intervention and physical examination findings were correlated with fistulography. Need for subsequent percutaneous intervention was recorded. RESULTS: Annual nontreatment rates ranged from 3% to 14% (median, 10%). Preprocedure thrill was encountered in 45 patients in the NTG (59%) vs 6 in the CG (7.8%; P < .01). Aneurysm as indication for fistulography was more common in the NTG than the CG (19 [25%] vs 4 [5%]; P < .01). The NTG had a higher proportion of aneurysms noted on fistulography as well (38 [50%] vs 19 [25%]; P < .01). The CG had a higher proportion of patients needing subsequent percutaneous intervention vs the NTG (73 [96%] vs 38 [50%]; P < .001). CONCLUSIONS: A suggested nonintervention rate for hemodialysis access fistulography is 10%. Patients in the NTG were more likely to have a thrill on physical examination or to present with aneurysms as the clinical indicator. NTG patients were less likely to require subsequent percutaneous intervention.


Asunto(s)
Derivación Arteriovenosa Quirúrgica , Oclusión de Injerto Vascular/diagnóstico por imagen , Oclusión de Injerto Vascular/terapia , Diálisis Renal , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
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