Search

Investigations into readmissions after surgical repair of acute Stanford type A aortic dissection (TAAD) remain scarce. We analyzed potential risk factors for readmission after TAAD.The 2013 to 2014 US Nationwide Readmissions Database was queried for TAAD index hospitalizations and 90-day readmissions indicated by diagnostic and procedural codes. Multivariable analysis was completed to identify risk factors and the most common reasons for readmission.We identified 6975 patients (65% men; mean age, 60.0 ± 0.4 years) who underwent surgical repair for TAAD. Overall 2062 patients (29.6%) were readmitted within 90 days: 634 (30.7%) during the first 30 days and 1428 (69.3%) during days 31 through 90. Readmitted patients had a higher prevalence of chronic kidney disease at index admission (18.0% vs 11.6%, P = .002), greater overall index length of stay (17.8 ± 0.6 vs 15. 5 ± 0.4 days; P = .0003), and greater index hospitalization cost ($90,637 ± $2691 vs $80,082 ± $2091; P = .0003). Mortality during readmission was 3.6% (n = 74). Indications for readmission were most commonly cardiac (26.2%), infectious (17.8%), and pulmonary (11.7%). Multivariate analysis identified 2 independent risk factors for readmission: acute kidney injury (odds ratio, 1.49; 95% confidence interval, 1.24-1.78; P.0001) and an Elixhauser comorbidity index4 (odds ratio, 1.26; 95% confidence interval, 1.06-1.49; P = .009).After surgical repair of TAAD, approximately 30% of patients were readmitted within 90 days, two-thirds of them during the 31- to 90-day period. Targeted improvements in perioperative care and postdischarge follow-up of patients with multiple comorbidities could mitigate readmission rates. Efforts to reduce readmissions should be continued throughout the 90-day period.

This study evaluated outcomes and risk factors for surgical aortic valve replacement (SAVR) for aortic insufficiency (AI) in a national cohort. We analyzed the incidence, outcomes, and risk factors for SAVR for AI in the Society of Thoracic Surgeons Adult Cardiac Surgery Database.The national database was queried for patients with moderate or greater AI undergoing isolated SAVR between July 2011 and December 2018. Patients with moderate or greater aortic stenosis, acute dissection, active endocarditis, concomitant procedures, or emergent operation were excluded. AI was staged using guideline criteria based on symptoms and ventricular remodeling. Operative mortality and morbidity were compared between stages, and risk factors for operative death were identified.A total of 12,564 patients underwent isolated SAVR for AI from 2011 to 2018. Patients were most frequently AI stage D (7019 [57.5%]), compared with B (1405 [11.2%]), C1 (1128 [9.0%]), or C2 (1325 [10.5%]). Operative mortality was 1.1% overall, and increased between stage C1, C2, and D (0.4% vs 0.7% vs 1.6%, respectively, P.01), along with major morbidity (5.1% vs 7.5% vs 9.9%, respectively; P.01). Mortality was higher in patients with severe ventricular dilation and an ejection fraction of less than 0.30 (2.7% vs 1.0%, P.01). Risk factors for death were symptomatic AI, decreased ejection fraction, age, weight, body surface area, and dialysis.Operative mortality and morbidity for isolated SAVR for AI is very low in a national cohort, providing a benchmark for future transcatheter approaches. Operative risk increases with advanced ventricular remodeling. SAVR before development of ventricular remodeling may be appropriate in patients with severe AI.

OBJECTIVES: Safety-net hospitals (SNHs) provide essential services to predominantly underserved patients regardless of their ability to pay. We hypothesized that patients who underwent coronary artery bypass grafting (CABG) would have inferior observed outcomes at SNHs compared with non-SNHs but that matched cohorts would have comparable outcomes. METHODS: We queried the Nationwide Readmissions Database for patients who underwent isolated CABG from 2016 to 2018. We ranked hospitals by the percentage of all admissions in which the patient was uninsured or insured with Medicaid; hospitals in the top quartile were designated as SNHs. We used propensity-score matching to mitigate the effect of confounding factors and compare outcomes between SNHs and non-SNHs. RESULTS: A total of 525,179 patients underwent CABG, including 96,133 (18.3%) at SNHs, who had a greater burden of baseline comorbidities (median Elixhauser score 8 vs 7; P = .04) and more frequently required urgent surgery (57.1% vs 52.8%; P

Choosing between a bioprosthetic and a mechanical mitral valve is an important decision for both patients and surgeons. We compared patient outcomes and readmission rates after bioprosthetic mitral valve replacement (Bio-MVR) vs mechanical mitral valve replacement (Mech-MVR).The Nationwide Readmissions Database was queried to identify 31 474 patients who underwent isolated MVR (22 998 Bio-MVR, 8476 Mech-MVR) between January 1, 2016, and December 31, 2018. Propensity score matching by age, sex, elective status, and comorbidities was used to compare outcomes between matched cohorts by prosthesis type. Freedom from readmission within the first calendar year was estimated by Kaplan-Meier analysis and compared between matched cohorts.Bio-MVR patients were older (median age, 69 vs 57 years; P.001) and had more comorbidities (median Elixhauser score, 14 vs 11; P.001) compared with Mech-MVR patients. After propensity score matching (n = 15 549), Bio-MVR patients had similar operative mortality (3.5% vs 3.4%; P = .97) and costs ($50 958 vs $49 782; P = .16) but shorter lengths of stay (8 vs 9 days; P.001) and fewer 30-day (16.0% vs 18.1%; P = .04) and 90-day (23.8% vs 26.8%; P = .01) readmissions compared with Mech-MVR patients. The difference in readmissions persisted at 1 year (P = .045). Readmission for bleeding or coagulopathy complications was less common with Bio-MVR (5.7% vs 10.1%; P .001).Readmission was more common after Mech-MVR than after Bio-MVR. Identifying and closely observing patients at high risk for bleeding complications may bridge the readmissions gap between Bio-MVR and Mech-MVR.

Without surgical repair, acute type A aortic dissection (TAAD) is usually fatal. However, some patients survive without early operation and progress to the chronic phase. Contemporary outcomes of primary surgical repair of chronic TAAD are unclear, so we evaluated them at our single-practice service.During 1990-2021, 205 patients underwent repair of TAAD in the chronic phase (60 days after onset). The two relevant DeBakey classifications were nearly equally represented (type I: 52% [n=107] and type II: 48% [n=98]). The median interval between dissection onset and repair was 7 months (interquartile range [IQR], 3-25 months). Kaplan-Meier and competing-risk analyses provided time-dependent outcomes.At the time of intervention, most patients had chronic symptoms (40%). Type I patients were younger than type II patients; however, comorbidities were similar. Most patients (n=183; 87%) underwent hemiarch or total arch repair, although total arch replacement was more common in type I dissection (P.001). There were 15 (7%) operative deaths, and 7 (3%) strokes persisted to the time of death or discharge. No patient had persistent paraplegia. Median follow-up was 5 years (IQR: 2-11). Five-year survival was 62% (95% CI: 55-69%), and the incidence of reoperation was 3% (95% CI: 0.4-5.2%). Patients with type I and type II dissection did not differ significantly in survival (P=.2).Durable repair can be achieved with reasonable operative risk. Treatment is individualized and is associated with low rates of persistent neurological complications. Despite differing operative approaches by DeBakey type, early and late outcomes were similar.

To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018? We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018. Forty-seven patients were identified, and 5 were re-transplanted. Sixty-eight percent were male. The median age at diagnosis was 0.6 years, and for HSCT was 1.4 years. The most common diseases were chronic granulomatous disease (38%) followed by severe combined immune deficiencies (19%) and hemophagocytic lymphohistiocytosis (15%). Cord blood donors were the most used source of HSCT (44%). T cell–replete grafts from haploidentical donors using post-transplantation cyclophosphamide represent 37% of the cohort. All patients received conditioning, 62% with a non-myeloablative regimen. Calcineurin inhibitors were the main graft-versus-host disease prophylaxis (63.8%). Acute graft-versus-host disease developed in 35% of the total patients. The most frequent post-transplant infections were viral and fungal infections. The 1-year overall survival rates for the patients who received HSCT from identical, haploidentical, and cord sources were 80%, 72%, and 63%, respectively. The 5-year overall survival was 63%. HSCT is a curative treatment option for some IEI and can be performed with any donor type. Early and timely treatment in referral centers can improve survival.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascular compromise that usually lead to death. We aimed to describe the case of a patient who reached above-average age expectancy for children with HGPS in Latin America and describe the clinical and molecular characteristics of the patient. A 14-year-old female patient was presented with progeria-compatible phenotypic characteristics. HGPS was confirmed via LMNA gene sequencing that detected a heterozygous c.1824C>T (p.Gly608Gly) mutation. The primary aim is to describe the HGPS case, the molecular gene mutation finding, and make a short review of the limited available treatment options for children with HGPS. Such as the farnesyl transferase inhibitors in conjunction with other pharmacological therapies that have insinuated improvement in health, and survival rate.

Background: Atrial septal defect and Impella have been proposed for left ventricular unloading in venoarterial extracorporeal membrane oxygenation patients. This work aims at evaluating the haemodynamic changes in venoarterial extracorporeal membrane oxygenation patients after Impella implantation or atrial septal defect realization by a simulation study. Methods: A lumped parameter model of the cardiovascular system was adapted to this study. Atrial septal defect was modelled as a resistance between the two atria. Venoarterial extracorporeal membrane oxygenation and Impella were modelled starting from their pressure-flow characteristics. The baseline condition of a patient undergoing venoarterial extracorporeal membrane oxygenation was reproduced starting from haemodynamic and echocardiographic data. The effects of different atrial septal defect size, Impella and venoarterial extracorporeal membrane oxygenation support were simulated. Results: Impella caused an increment of mean arterial pressure up to 67%, a decrement in mean pulmonary arterial pressure up to 8%, a decrement in left ventricular end systolic volume up to 11% with a reduction up to 97% of left ventricular cardiac output. Atrial septal defect reduces left atrial pressure (19%), increases right atrial pressure (22%), increases mean arterial pressure (18%), decreases left ventricular end systolic volume (11%), increases right ventricular volume (33%) and decreases left ventricular cardiac output (55%). Conclusion: Impella has a higher capability in left ventricular unloading during venoarterial extracorporeal membrane oxygenation in comparison to atrial septal defect with a lower right ventricular overload.

Background This single-institution study assessed the midterm outcomes of patients undergoing complete vascular ring (CVR) repair and the need for reintervention. Methods The study included all patients who underwent surgical repair of an isolated CVR from 1996 to 2018 at our institution. Patients who underwent concomitant intracardiac repair were excluded. Data analysis included demographics, type of anomaly, other congenital heart disease, clinical symptomatology, operative technique, perioperative outcomes, reoperation rates, and mortality. Results CVR repair through open thoracotomy was performed in 148 patients (80 boys [54%]), median age, 1.04 years (interquartile range, 0.4-5.2 years), and median weight, 12.8 kg (interquartile range, 7.5-26.5 kg). The cohort included 72 patients with double aortic arch (DAA), 69 with right aortic arch (RAA) with aberrant left subclavian artery and left ligamentum arteriosum (LLA), 5 with RAA with left descending aorta and LLA, and 2 with RAA with mirror-image branching and LLA. There was 1 outpatient perioperative death (0.7%) 15 days postoperatively. Perioperative complications occurred in 20 patients (14%): 18 (12%) with chylothorax (3 required reintervention), 1 pneumothorax, and 1 vocal cord paresis. Two of 36 patients (5.5%) without primary diverticulum resection required reoperation and subclavian reimplantation at 3 and 4 years, and 1 patient required aortic translocation 9 years later for persistent symptoms. Conclusions Freedom from reoperation after CVR repair was 93% at 5 years and 86% at 10 years. A small proportion of patients who do not undergo diverticulum resection and aberrant left subclavian artery reimplantation at the time of CVR repair will require reintervention in the future.

We aimed to describe the short- and long-term outcomes of patients after an arterial switch operation (ASO) at a single institution during a 23-year period. A retrospective chart review of all patients18 months of age who underwent an ASO between January 1995 and March 2018 at Texas Children's Hospital, Houston, TX was performed. Primary endpoints include mortality and reintervention. Perioperative mortality was defined as mortality occurring in-hospital and/or30 days after surgery. Survival and freedom-from-reintervention were analyzed using Kaplan-Meier method, log-rank tests, and Cox regression models. The cohort included 394 patients. Diagnoses included 204 patients (52%) with intact ventricular septum, 137 (35%) with a ventricular septal defect, 17 (4%) with a ventricular septal defect and left ventricular outflow tract obstruction (LVOTO), and 36 (9%) with Taussig-Bing anomaly. Median age at surgery was 8 days (range: 1 day to 17 months) and median weight was 3.4 (range: 0.8-12.0) kg. Overall perioperative mortality was 1.3% (n = 5), 0.3% (n = 1) since 1999. Overall survival at 5, 10, and 15 years was 98.2%, 97.8%, and 97.8%, respectively. Perioperative morality was associated with prematurity (P = 0.012),2.5 kg (P0.001), and longer circulatory arrest (P = 0.024) after univariate analysis. Reintervention was associated with a longer cross-clamp time (P0.001),2.5 kg (P = 0.009), LVOTO resection (P = 0.047), and genetic syndrome (P= 0.011) after multivariable analysis. Current ASO expectations should include a perioperative mortality risk of1% and good long-term survival. Reinterventions are more frequent in patients2.5 kg, concomitant LVOTO resection, a genetic syndrome, and longer cross-clamp time.

Supplemental material, sj-docx-1-jcn-10.1177_08830738221115248 for Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm by Rose Gelineau-Morel, Michael C. Kruer, Jordan F. Garris, Amal Abu Libdeh, Daniel A. N. Barbosa, Keith A. Coffman, David Moon, Christopher Barton, Alonso Zea Vera, Adrienne B. Bruce, Travis Larsh, Steve W. Wu, Donald L. Gilbert, and Jennifer A. O'Malley in Journal of Child Neurology

Motor inhibition is an important cognitive process involved in tic suppression. As the right frontal lobe contains important inhibitory network nodes, we characterized right superior, middle, and inferior frontal gyral (RSFG, RMFG, RIFG) event-related oscillations during motor inhibition in youth with chronic tic disorders (CTD) versus controls. Fourteen children with CTD and 13 controls (10–17 years old) completed an anticipated-response stop signal task while dense-array electroencephalography was recorded. Between-group differences in spectral power changes (3–50 Hz) were explored after source localization and multiple comparisons correction. Two epochs within the stop signal task were studied: (1) preparatory phase early in the trial before motor execution/inhibition and (2) active inhibition phase after stop signal presentation. Correlation analyses between electrophysiologic data and clinical rating scales for tic, obsessive-compulsive symptoms, and inattention/hyperactivity were performed. There were no behavioral or electrophysiological differences during active stopping. During stop preparation, CTD participants showed greater event-related desynchronization (ERD) in the RSFG (γ-band), RMFG (β, γ-bands), and RIFG (θ, α, β, γ-bands). Higher RSFG γ-ERD correlated with lower tic severity (r = 0.66, p = 0.04). Our findings suggest RSFG γ-ERD may represent a mechanism that allows CTD patients to keep tics under control and achieve behavioral performance similar to peers.

Aim: To evaluate and describe lymphocyte populations’ and B cell subsets’ frequencies in patients presenting with Predominantly antibody deficiencies (PAD) and diagnosed with bronchiectasis or recurrent pneumonia seen in Cali (Colombian Southwest region). Materials and Methods: 16 subjects with PAD, 20 subjects with pulmonary complications (bronchiectasis or recurrent pneumonia) and 20 healthy donors (HD). Controls and probands between 14 and 64 years old, regardless of gender were included. Lymphocyte populations (T, B and NK cells) and B cell subsets were evaluated in peripheral blood mononuclear cells using flow cytometry, T/B/NK reagent and the pre-germinal center antibody panel proposed by the EUROflow consortium were used. EUROclass and the classification proposed by Driessen et al. were implemented. Results: CVID patients exhibited increase absolute numbers of CD8+ T cells and reduce NK cells as compare with HD, other PAD cases or pulmonary complications. PAD B cell subsets were disturbed when compared to the age range-matched healthy donors. Among B cell subsets, the memory B cell compartment was the most affected, especially switched memory B cells. Four participants were classified as B- and two CVID as smB-Trnorm and smB-21low groups according to EUROclass classification. The most frequent patterns proposed by Driessen et al. were B cell production and germinal center defect. Conclusions: B cell subsets, especially memory B cells, are disturbed in PAD patients from Southwestern Colombia. To the best of our knowledge this is the most comprehensive study of B cell subsets in Colombian adults.

Background Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1‐related myopathies (RYR1‐RM); the most common subgroup of congenital myopathies. Methods Congenital myopathy presents a diagnostic challenge due to the need for multiple testing modalities to identify the many different genetic etiologies. In this case, the patient remained undiagnosed after whole‐exome sequencing (WES), chromosomal microarray, methylation analysis, targeted deletion and duplication studies, and targeted repeat expansion studies. Clinical whole‐genome sequencing (WGS) was then pursued as part of a research study to identify a diagnosis. Results WGS identified compound heterozygous RYR1 intronic variants, RNA sequencing confirmed both variants to be pathogenic causing RYR1‐RM in a phenotype of severe congenital hypotonia with respiratory failure from birth, neonatal brain hemorrhage, and congenital heart disease involving transposition of the great arteries. Conclusion While there is an ongoing debate about the clinical superiority of WGS versus WES for patients with a suspected genetic condition, this scenario highlights a weakness of WES as well as the added cost and delay in diagnosis timing with having WGS follow WES or even ending further genetic testing with a negative WES. While knowledge gaps still exist for many intronic variants, transcriptome analysis provides a way of validating the resulting dysfunction caused by these variants and thus allowing for appropriate pathogenicity classification. This is the second published case report of a patient with pathogenic intronic variants in RYR1‐RM, with clinical RNA testing confirming variant pathogenicity and therefore the diagnosis suggesting that for some patients careful analysis of a patient's genome and transcriptome are required for a complete genetic evaluation. The diagnostic odyssey experienced by this patient highlights the importance of early, rapid WGS.

Background and ObjectivePediatricians and pediatric subspecialists worldwide have reported a marked increase in functional (conversion) disorders with tic-like behaviors during the COVID-19 pandemic. These patients often report frequent viewing of Tourette Syndrome (TS) TikTok videos, suggesting disease modeling. We aimed to evaluate tic phenomenology in videos posted on TikTok.MethodsThe 100 most-viewed videos under #tourettes in TikTok were randomly assigned to two primary reviewers (n=3; 2 years independent pediatric movement-disorder practice) served as tiebreaker. In addition, two primary and one senior reviewer rated each video on a Likert scale from 1= “All the tics are typical of TS” to 5= “None of the tics are typical of TS”. Mean scores and Spearman correlation between primary and senior reviewers were calculated.ResultsSix videos without tic-like behaviors were excluded. Most videos depicted coprophenomena (coprolalia: 53.2%; copropraxia: 20.2%), often with unusual characteristics. Frequently, videos demonstrated atypical phenomenology such as very strong influence by the environment (motor: 54.3%; phonic: 54.3%), aggression (19.1%), throwing objects (22.3%), self-injurious behaviors (27.7%), and long phrases (>3 words; 45.7%). Most videos portrayed atypical, non-tic behaviors (Median [IQR] Likert ratings: Primary 4.5 [4-5]; Senior 5 [3-5]). Primary vs. senior rater scores demonstrated moderate agreement (r = 0.46; pConclusionsTS symptoms portrayals on highly-viewed TikTok videos are predominantly not representative or typical of TS.HighlightsMany teenagers with functional tic-like disorder have been reported during the COVID-19 pandemic.These patients report increased viewing of Tourette Syndrome TikTok videos, a popular social media platform, and present with similar tic-like behaviors.Current TikTok videos are poorly representative of Tourette syndrome and more consistent with functional tic-like behavior.We provide a detailed description of the phenomenology tics and tic-like behavior portrayed in TikTok.

Pediatricians and pediatric subspecialists worldwide have reported a marked increase in functional (conversion) disorders with tic-like behaviors during the COVID-19 pandemic. These patients often report frequent viewing of Tourette syndrome (TS) TikTok videos, suggesting disease modeling. We aimed to evaluate tic phenomenology in videos posted on TikTok.The 100 most-viewed videos under #tourettes in TikTok were randomly assigned to two of three primary reviewers (2 years independent practice), all pediatric neurologists specializing in movement disorders, for extraction and classification of tic phenomenology. Initial disagreements were solved by consensus. If not resolved, one of five senior reviewers (2 years independent pediatric movement disorder practice) served as a tiebreaker. In addition, two primary and one senior reviewer rated each video on a Likert scale from 1 = "All the tics are typical of TS" to 5 = "None of the tics are typical of TS". Median scores and Spearman correlation between primary and senior reviewers were calculated.Six videos without tic-like behaviors were excluded. Most videos depicted coprophenomena (coprolalia: 53.2%; copropraxia: 20.2%), often with unusual characteristics. Frequently, videos demonstrated atypical phenomenology such as very strong influence by the environment (motor: 54.3%; phonic: 54.3%), aggression (19.1%), throwing objects (22.3%), self-injurious behaviors (27.7%), and long phrases (3 words; 45.7%). Most videos portrayed atypical, nontic behaviors (median [IQR] Likert ratings: 5 [4-5]). Primary vs. senior rater scores demonstrated moderate agreement (r = 0.46; P 0.001).TS symptom portrayals on highly viewed TikTok videos are predominantly not representative or typical of TS.