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1.
J Craniofac Surg ; 35(5): 1310-1314, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38752737

RESUMO

OBJECTIVE: The objective of this study was to assess whether race and ethnicity are independent predictors of inferior postoperative clinical outcomes, including increased complication rates, extended length of stay (LOS), and unplanned 30-day readmission following cranial vault repair for craniosynostosis. METHODS: A retrospective cohort study was performed using the American College of Surgeons National Surgical Quality Improvement Program-Pediatric database. Pediatric patients under 2 years of age undergoing cranial vault repair for craniosynostosis between 2012 and 2021 were identified using the International Classification of Diseases-9/10 and Current Procedural Terminology codes. Patients were dichotomized into 4 cohorts: non-Hispanic White (NHW), non-Hispanic Black (NHB), Hispanic, and other. Only patients with available race and ethnicity data were included in this study. Patient demographics, comorbidities, surgical variables, postoperative adverse events, and hospital resource utilization were assessed. Multivariate logistic regression analysis was used to assess the impact of race on complications, extended LOS, and unplanned readmissions. RESULTS: In our cohort of 7764 patients, 72.80% were NHW, 8.44% were NHB, 15.10% were Hispanic, and 3.67% were categorized as "other." Age was significantly different between the 4 cohorts ( P <0.001); NHB patients were the oldest, with an average age of 327.69±174.57 days old. Non-Hispanic White experienced the least adverse events while NHB experienced the most ( P =0.01). Total operative time and hospital LOS were shorter for NHW patients ( P <0.001 and P <0.001, respectively). Rates of unplanned 30-day readmission, unplanned reoperation, and 30-day mortality did not differ significantly between the 4 cohorts. On multivariate analysis, race was found to be an independent predictor of extended LOS [NHB: adjusted odds ratio: 1.30 (1.04-1.62), P=0.021; other: 2.28 (1.69-3.04), P =0.005], but not of complications or readmission. CONCLUSIONS: Our study demonstrates that racial and ethnic disparities exist among patients undergoing cranial vault reconstruction for craniosynostosis. These disparities, in part, may be due to delayed age of presentation among non-Hispanic, non-White patients. Further investigations to elucidate the underlying causes of these disparities are necessary to address gaps in access to care and provide equitable health care to at-risk populations.


Assuntos
Craniossinostoses , Tempo de Internação , Readmissão do Paciente , Complicações Pós-Operatórias , Feminino , Humanos , Lactente , Masculino , Craniossinostoses/cirurgia , Bases de Dados Factuais , Etnicidade , Disparidades em Assistência à Saúde , Hispânico ou Latino , Tempo de Internação/estatística & dados numéricos , Readmissão do Paciente/estatística & dados numéricos , Procedimentos de Cirurgia Plástica , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Fatores Socioeconômicos , Resultado do Tratamento , Estados Unidos , Negro ou Afro-Americano , Brancos
2.
World Neurosurg ; 189: e46-e54, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38815926

RESUMO

BACKGROUND: Within the field of pediatric neurosurgery, insurance status has been shown to be associated with surgical delay, longer time to referral, and longer hospitalization in epilepsy treatment, myelomeningocele repair, and spasticity surgery.1,2 The aim of this study was to investigate the association of insurance status with inpatient adverse events (AEs), length of stay (LOS), and costs for newborns diagnosed with intraventricular hemorrhage (IVH). METHODS: A retrospective cohort study was performed using the 2016-2019 National Inpatient Sample database. Patients with a primary diagnosis of intraventricular hemorrhage were identified using ICD-10-CM diagnostic and procedural codes. Patients were categorized based on insurance status: Medicaid or Private Insurance (PI). Multivariate logistic regression analyses were used to identify the impact of insurance status on extended LOS (defined as >75th percentile of LOS) and exorbitant cost (defined as >75th percentile of cost). RESULTS: Demographics differed significantly between groups, with the majority of newborns in the PI cohort being White (Medicaid: 35.8% vs. PI: 60.3%, P < 0.001) and the majority of Medicaid patients being in the 0-25th quartile of household income (Medicaid: 40.9% vs. PI: 12.9%, P < 0.001). While insurance status was not independently associated with increased odds of extended LOS or exorbitant cost, Medicaid patients had a greater mean LOS and total cost of admission than PI patients. CONCLUSIONS: Demographic characteristics, mean LOS, and mean total cost differed significantly between Medicaid and PI patients, indicating potential disparities based on insurance status. However, insurance status was not independently associated with increased healthcare utilization, necessitating further research in this area of study.


Assuntos
Disparidades em Assistência à Saúde , Cobertura do Seguro , Tempo de Internação , Medicaid , Humanos , Recém-Nascido , Feminino , Masculino , Estudos Retrospectivos , Estados Unidos , Tempo de Internação/estatística & dados numéricos , Tempo de Internação/economia , Cobertura do Seguro/estatística & dados numéricos , Medicaid/economia , Disparidades em Assistência à Saúde/economia , Disparidades em Assistência à Saúde/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Seguro Saúde/estatística & dados numéricos , Estudos de Coortes , Hemorragia Cerebral Intraventricular/economia , Hemorragia Cerebral Intraventricular/cirurgia , Resultado do Tratamento
3.
Spine Deform ; 12(4): 1043-1051, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38493442

RESUMO

INTRODUCTION: Several studies have demonstrated the benefits of enhanced recovery after surgery (ERAS) protocols for patients with adolescent idiopathic scoliosis (AIS) undergoing posterior spinal instrumented fusion (PSIF). However, there are relatively few studies investigating the effect of regular multidisciplinary team meetings on level selection, surgical performance parameters, and patient outcomes after PSIF for AIS. The aim of this study was to assess changes in intra- and postoperative outcomes following multidisciplinary team meeting implementation for patients undergoing PSIF for AIS. METHODS: The medical records of 96 adolescents (10 to 18 years old) diagnosed with AIS and undergoing PSIF at a major academic institution from 2017 to 2022 were retrospectively reviewed. A quality improvement (QI) initiative was implemented in February 2020, including institution of monthly multidisciplinary conferences focusing on preoperative indications, level selection, postoperative review of surgical performance parameters for previous cases, and discussion and optimization of postoperative ambulation and pain control protocols. Patients were placed into "Pre-QI" (treated pre-February 2020) and "Post-QI" (treated post-February 2020) cohorts. Patient demographics, comorbidities, deformity characteristics, intraoperative variables, ambulation status, postoperative complications, length of stay (LOS), and unplanned readmission rates were assessed. RESULTS: Of the 96 study patients, 44 (45.8%) were in the Pre-QI cohort, and 52 (54.2%) were in the Post-QI cohort. Mean major curve was not significantly different between the two cohorts (Pre-QI: 58.0 ± 7.3° vs Post-QI: 57.9 ± 14.5°, p = 0.169). The Pre-QI cohort had a greater mean minor curve degree (Pre-QI: 42.7 ± 11.8° vs Post-QI: 36.8 ± 12.4, p = 0.008). The Pre-QI cohort had significantly greater mean spinal levels fused (Pre-QI: 11.7 ± 1.7 vs Post-QI: 10.4 ± 2.6, p = 0.009), significantly greater mean estimated blood loss (Pre-QI: 1063.6 ± 631.5 ml vs. Post-QI: 415.8 ± 189.9 ml, p < 0.001), significantly greater mean operative time normalized to levels fused (Pre-QI: 0.6 ± 0.1 h/level fused vs Post-QI: 0.4 ± 0.1 h/level fused, p < 0.001), and a significantly greater proportion of patients with intraoperative drain placement (Pre-QI: 93.2% vs Post-QI: 5.8%, p < 0.001). The Post-QI cohort had significantly shorter time to postoperative ambulation (Pre-QI: 2.1 ± 0.9 days vs Post-QI: 1.3 ± 0.5 days, p < 0.001). A significantly greater proportion of patients in the Pre-QI cohort developed any postoperative complication (Pre-QI: 72.7% vs Post-QI: 34.6%, p < 0.001), and mean LOS was significantly greater among Pre-QI patients (Pre-QI: 4.5 ± 1.1 days vs Post-QI: 3.2 ± 0.8 days, p < 0.001). Discharge disposition (p = 0.758) and 30-day unplanned readmissions (p = 0.207) were similar between the cohorts. CONCLUSIONS: Our findings suggest that monthly multidisciplinary pediatric spine team meetings may improve patient care. Further studies exploring the incorporation of QI implementation with frequent multidisciplinary team meetings into existing ERAS protocols are merited.


Assuntos
Melhoria de Qualidade , Escoliose , Fusão Vertebral , Humanos , Escoliose/cirurgia , Fusão Vertebral/métodos , Adolescente , Feminino , Masculino , Estudos Retrospectivos , Criança , Resultado do Tratamento , Tempo de Internação , Equipe de Assistência ao Paciente/organização & administração , Complicações Pós-Operatórias/epidemiologia , Recuperação Pós-Cirúrgica Melhorada
4.
Clin Neurol Neurosurg ; 236: 108104, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38171050

RESUMO

INTRODUCTION: Affective disorders (AD) have been shown to influence patient outcomes and healthcare resource utilization across several pathologies, though this relationship has not been described in patients with Chiari I malformations (CM-I). The aim of this study was to determine the impact of comorbid AD on postoperative events and healthcare resource utilization in adults following suboccipital decompression for CM-I. METHODS: A retrospective study was performed using the 2016-2019 National Inpatient Sample database. Adults who underwent suboccipital decompression for CM-I were identified using ICD-10-CM codes. Patients were stratified into two cohorts, those with AD and those without (No AD). Patient demographics, comorbidities, operative characteristics, perioperative adverse events (AEs), and healthcare resource utilization were assessed. Multivariate logistic regression analyses were used to identify independent predictors of prolonged length of stay (LOS), exorbitant admission costs, and non-routine discharge (NRD). RESULTS: A total of 3985 patients were identified, of which 2780 (69.8%) were in the No AD cohort and 1205 (30.2%) were in the AD cohort. Patient demographics were similar, except for a greater proportion of Female patients than the No AD cohort (p = 0.004). Prevalence of some comorbidities varied between cohorts, including obesity (p = 0.030), ADHD (p < 0.001), GERD (p < 0.001), smoking (p < 0.001), and chronic pulmonary disease (p < 0.001). The AD cohort had a greater proportion of patients with 1-2 (p < 0.001) or ≥ 3 comorbidities (p < 0.001) compared to the No AD cohort. A greater proportion of patients in the AD cohort presented with headache compared to the No AD cohort (p = 0.003). Incidence of syringomyelia was greater in the No AD cohort (p = 0.002). A greater proportion of patients in the No AD cohort underwent duraplasty only (without cervical laminectomy) compared to the AD cohort (p = 0.021). Healthcare resource utilization was similar between cohorts, with no significant differences in mean LOS (No AD: 3.78 ± 3.51 days vs. 3.68 ± 2.71 days, p = 0.659), NRD (No AD: 3.8% vs. AD: 5.4%, p = 0.260), or mean admission costs (No AD: $20,254 ± 14,023 vs. AD: $29,897 ± 22,586, p = 0.284). On multivariate analysis, AD was not independently associated with extended LOS [OR (95%CI): 1.09 (0.72-1.65), p = 0.669], increased hospital costs [OR (95%CI): 0.98 (0.63-1.52), p = 0.930], or NRD [OR (95%CI): 1.39 (0.65-2.96), p = 0.302]. CONCLUSION: Our study suggests that the presence of an AD may not have as much of an impact on postoperative events and healthcare resource utilization in adult patients undergoing Chiari decompression. Additional studies may be warranted to identify other potential implications that AD may have in other aspects of healthcare in this patient population.


Assuntos
Malformação de Arnold-Chiari , Descompressão Cirúrgica , Adulto , Humanos , Feminino , Descompressão Cirúrgica/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Custos Hospitalares , Malformação de Arnold-Chiari/epidemiologia , Malformação de Arnold-Chiari/cirurgia , Malformação de Arnold-Chiari/complicações , Complicações Pós-Operatórias/etiologia
5.
J Craniofac Surg ; 2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-38078913

RESUMO

STUDY DESIGN: Retrospective cohort study. OBJECTIVES: The aim of this study was to identify the factors associated with extended operative time (EOT) for pediatric patients with craniosynostosis undergoing cranial vault remodeling (CVR). METHODS: A retrospective cohort study was performed using the 2012 to 2021 American College of Surgeons National Surgical Quality Improvement Program Pediatric--Pediatric database. Pediatric patients below 2 years old with craniosynostosis who underwent CVR were identified using Current Procedural Terminology and International Classification of Diseases-9/10 codes. Patients were dichotomized according to whether they encountered an EOT, which was defined as operative time greater than the 75th percentile for the entire cohort (246 min). Patient demographics, comorbidities, intraoperative variables, postoperative adverse events, and health care resource utilization were assessed. Multivariate logistic regression analysis was utilized to identify predictors of EOT and length of stay. RESULTS: In the cohort of 9817 patients undergoing CVR, 24.3% experienced EOT. The EOT cohort was significantly older and less likely to be non-Hispanic White. Patient comorbidities and surgical adverse events were more frequent among the EOT cohort, including proportions of postoperative surgical site infections. Independent predictors for EOT included age, racial identity, weight, and a higher American Society of Anesthesiologists classification. EOT was found to be an independent predictor for prolonged hospitalization EOT [adjusted odds ratios: 0.78 (0.44-1.13), P<0.001]. CONCLUSIONS: This study demonstrates that age, race, and comorbidities contribute to EOT after CVR for craniosynostosis. EOT is independently associated with a longer length of stay. Additional investigations to further understand the risk factors and impacts of extended EOT are warranted to improve patient outcomes.

6.
J Craniofac Surg ; 2023 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-37943085

RESUMO

OBJECTIVES: The aim of this study was to identify the factors associated with extended length of stay (LOS) for pediatric patients with craniosynostosis undergoing cranial vault remodeling (CVR). METHODS: A retrospective cohort study was performed using the 2012 to 2021 American College of Surgeons National Surgical Quality Improvement Program-Pediatric database. Pediatric patients below 2 years old with craniosynostosis who underwent CVR were identified using Current Procedural Terminology and International Classification of Diseases-9/10 codes. Patients were dichotomized according to whether they encountered an extended postoperative hospital LOS, which was defined as LOS greater than the 75th percentile for the entire cohort (4 days). Patient demographics, comorbidities, intraoperative variables, postoperative adverse events, and health care resource utilization were assessed. Multivariate logistic regression analysis was utilized to identify predictors of prolonged LOS. RESULTS: In our cohort of 9784 patients, 1312 (13.4%) experienced an extended LOS. The extended LOS cohort was significantly older than the normal LOS cohort (normal LOS: 225.1±141.8 d vs. extended LOS: 314.4±151.7 d, P<0.001) and had a smaller proportion of non-Hispanic white patients (normal LOS: 70.0% vs. extended LOS: 61.2%, P<0.001). Overall, comorbidities and adverse events were significantly higher in the extended LOS cohort than the normal LOS cohort. On multivariate logistic regression, independent associations of extended LOS included age, race and ethnicity, weight, American Society of Anesthesiologists classification, impaired cognitive status, structural pulmonary abnormalities, asthma, and neuromuscular disorders. CONCLUSIONS: This study demonstrates that age, race, comorbidities, and perioperative complications contribute to extended LOS after CVR for craniosynostosis. Further investigations to further elucidate the risk factors of extended LOS is warranted to optimize patient outcomes.

7.
J Craniofac Surg ; 34(7): 1931-1933, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37643076

RESUMO

Cranial vault remodeling (CVR) with and without frontal orbital advancement remodels the skull in craniosynostosis. Virtual surgical planning (VSP) for preoperative planning has been previously shown to be effective in CVR. In this study, the authors aimed to evaluate the impact of VSP on operative and perioperative efficiency for craniosynostosis surgery. A retrospective chart review was conducted of patients with craniosynostosis who underwent CVR. Patient demographics, perioperative variables, use of VSP, and complications were obtained. Perioperative variables collected include operative time and length of stay. An independent t test was used to compare variables from patients who had surgery with VSP and patients who did not. Records were available for 126 patients with craniosynostosis who underwent CVR of whom 79 (62.7%) utilized VSP. There was no difference in average age at surgery (9.3±5.7 mo versus 13.2±31.1 mo, P =0.39). Surgeries planned using VSP demonstrated a decreased operative time of 1.3 hours (3.7±1.1 versus 5.0±1.1 h, P <0.001) and a shorter length of stay (3.9±1.3 versus 4.6±1.7 d, P =0.01). There were no differences in complication rates of dehiscence, infection, returns to the operating room, or 30-day readmission. These trends were similar among patients who underwent fronto-orbital advancement in addition to CVR. Virtual surgical planning was associated with decreased operative time and length of stay for patients with craniosynostosis and comparable complication rates. Virtual surgical planning is an effective tool for reducing anesthetic exposure time.

8.
Spine Deform ; 11(5): 1127-1136, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37093449

RESUMO

OBJECTIVE: Mobilizing out of bed and ambulation are key components of recovery following posterior spinal fusion (PSF) for adolescent idiopathic scoliosis (AIS). However, there remains a paucity of studies identifying risk factors associated with delayed ambulation and its impact on postoperative outcomes. The aim of this study was to investigate patient- and surgical-level risk factors associated with delayed ambulation and the ramifications of delayed ambulation on healthcare utilization for patients undergoing PSF for AIS. METHODS: The medical records of 129 adolescent (10-18 years) patients diagnosed with AIS undergoing posterior spinal fusion at a major academic institution between 2013 and 2020 were reviewed. Patients were categorized based on days from surgery to ambulation: early (≤ 1 day), intermediate (2 days), or late (≥ 3 days). Patient demographics, comorbidities, spinal deformity characteristics, intraoperative variables, postoperative complications, LOS, and unplanned readmissions were assessed. The odds ratios for risk-adjusted delayed ambulation and extended LOS were determined via multivariate stepwise logistic regressions. RESULTS: One Hundred and Twenty Nine patients were included in this study, of which 10.8% (n = 14) were classified as Early ambulators, 41.9% (n = 54) Intermediate ambulators, and 47.3% (n = 61) were Late ambulators. Late ambulators were significantly younger than early and intermediate ambulators (Early: 15.7 ± 1.9 years vs. Intermediate: 14.8 ± 1.7 years vs. Late: 14.1 ± 1.9 years, p = 0.010). The primary and secondary spinal curves were significantly worse among Late ambulators (p < 0.001 and p = 0.002 respectively). Fusion levels (p < 0.01), EBL (p = 0.014), and the rate of RBC transfusions (p < 0.001) increased as time to ambulation increased. Transition time from IV to oral pain medications (Early: 1.6 ± 0.8 days vs. Intermediate: 2.2 ± 0.6 days vs. Late: 2.4 ± 0.6 days, p < 0.001) and total hospital length of stay (Early: 3.9 ± 1.4 days vs. Intermediate: 4.7 ± 0.9 days vs. Late: 5.1 ± 1.2 days, p < 0.001) were longer in Late ambulators. On multivariate analysis, significant predictors of delayed ambulation included primary curve degree ≥ 70° [aOR: 5.67 (1.29‒31.97), p = 0.030] and procedure time [aOR: 1.66 (1.1‒2.59), p = 0.019]. CONCLUSIONS: Our study suggests that there may be patient- and surgical-level factors that are independently associated with late ambulation following PSF for AIS, including extent of major curve and length of operative time. Additionally, delayed ambulation has implications to length of hospital stay and postoperative complications.


Assuntos
Cifose , Escoliose , Fusão Vertebral , Procedimentos Cirúrgicos Torácicos , Humanos , Adolescente , Escoliose/epidemiologia , Fusão Vertebral/efeitos adversos , Fusão Vertebral/métodos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Comorbidade , Cifose/etiologia , Dor/etiologia
9.
Cureus ; 15(3): e36408, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37090271

RESUMO

Low grade gliomas (LGGs) are the most common type of brain tumors diagnosed in children. The presentation of intracranial tumors in pediatric patients is varied and diverse. The early identification and treatment of LGGs are important to achieve favorable outcomes. Although personality changes can be a symptom of intracranial tumors, they are rarely the only main presenting feature. In addition to central nervous system (CNS) tumors, personality changes can be associated with psychological and endocrine conditions, contributing to a broad differential diagnosis. Because symptoms such as personality changes have the potential to be missed, communication between family members and clinicians is imperative to identify these symptoms early. We report the case of a 12-year-old child who presented with personality changes as her main symptom and was found to have an intracranial neoplasm. This case report integrates original author writing with output from ChatGPT, a natural language processing tool driven by artificial intelligence (AI). In addition to the case itself, this report will explore the benefits and drawbacks of using natural language AI in this context.

10.
Int J Spine Surg ; 17(3): 468-476, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37076256

RESUMO

BACKGROUND: Transitioning from intravenous (IV) to oral opioids after posterior spinal fusion (PSF) for adolescent idiopathic scoliosis (AIS) is necessary during the postoperative course. However, few studies have assessed the effects of longer transition times on hospital length of stay (LOS). This study investigated the impact of longer IV to oral opioid transition times on LOS after PSF for AIS. METHODS: The medical records of 129 adolescents (10-18 years old) with AIS undergoing multilevel PSF at a major academic institution from 2013 to 2020 were reviewed. Patients were categorized by IV to oral opioid transition time: normal (≤2 days) vs prolonged (≥3 days). Patient demographics, comorbidities, deformity characteristics, intraoperative variables, postoperative complications, and LOS were assessed. Multivariate analyses were used to determine odds ratios for risk-adjusted extended LOS. RESULTS: Of the 129 study patients, 29.5% (n = 38) had prolonged IV to oral transitions. Demographics and comorbidities were similar between the cohorts. The major curve degree (P = 0.762) and median (interquartile range) levels fused (P = 0.447) were similar between cohorts, but procedure time was significantly longer in the prolonged cohort (normal: 6.6 ± 1.2 hours vs prolonged: 7.2 ± 1.3 hours, P = 0.009). Postoperative complication rates were similar between the cohorts. Patients with prolonged transitions had significantly longer LOS (normal: 4.6 ± 1.3 days vs prolonged: 5.1 ± 0.8 days, P < 0.001) but similar discharge disposition (P = 0.722) and 30-day readmission rates (P > 0.99). On univariate analysis, transition time was significantly associated with extended LOS (OR: 2.0, 95% CI [0.9, 4.6], P = 0.014), but this assocation was not significant on multivariate analysis (adjusted OR: 2.1, 95% CI [1.3, 4.8], P = 0.062). CONCLUSIONS: Longer postoperative IV to oral opioid transitions after PSF for AIS may have implications for hospital LOS.

11.
Nat Med ; 29(3): 667-678, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36879130

RESUMO

Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an integrated analysis of 617 patient-parent (trio) exomes, 152,898 human brain and mouse meningeal single-cell RNA sequencing transcriptomes and natural language processing data of patient medical records. We found that damaging de novo variants (DNVs) were highly enriched in patients with ACs compared with healthy individuals (P = 1.57 × 10-33). Seven genes harbored an exome-wide significant DNV burden. AC-associated genes were enriched for chromatin modifiers and converged in midgestational transcription networks essential for neural and meningeal development. Unsupervised clustering of patient phenotypes identified four AC subtypes and clinical severity correlated with the presence of a damaging DNV. These data provide insights into the coordinated regulation of brain and meningeal development and implicate epigenomic dysregulation due to DNVs in AC pathogenesis. Our results provide a preliminary indication that, in the appropriate clinical context, ACs may be considered radiographic harbingers of neurodevelopmental pathology warranting genetic testing and neurobehavioral follow-up. These data highlight the utility of a systems-level, multiomics approach to elucidate sporadic structural brain disease.


Assuntos
Cistos Aracnóideos , Multiômica , Humanos , Animais , Camundongos , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/genética , Encéfalo/diagnóstico por imagem , Exoma/genética , Testes Genéticos
12.
J Neurosurg Case Lessons ; 5(10)2023 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-36880508

RESUMO

BACKGROUND: Hirayama disease, a cervical myelopathy characterized most commonly by a self-limiting atrophic weakness of the upper extremities, is a rare entity, scarcely reported in the literature. Diagnosis is made by spinal magnetic resonance imaging (MRI), which typically shows loss of normal cervical lordosis, anterior displacement of the cord during flexion, and a large epidural cervical fat pad. Treatment options include observation or cervical immobilization by collar or surgical decompression and fusion. OBSERVATIONS: Here, the authors report an unusual case of a Hirayama-like disease in a young White male athlete who presented with rapidly progressive paresthesia in all 4 extremities and no weakness. Imaging showed characteristic findings of Hirayama disease as well as worsened cervical kyphosis and spinal cord compression in cervical neck extension, which has not previously been reported. Two-level anterior cervical discectomy and fusion and posterior spinal fusion improved both cervical kyphosis on extension and symptoms. LESSONS: Given the disease's self-limiting nature, and a lack of current reporting, there remains no consensus on how to manage these patients. Such findings presented here demonstrate the potentially heterogeneous MRI findings that can be observed in Hirayama disease and emphasize the utility of aggressive surgical management in young, active patients whereby a cervical collar may not be tolerated.

13.
J Neurosurg Case Lessons ; 3(14)2022 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-36303510

RESUMO

BACKGROUND: Pineoblastomas are a rare and aggressive pediatric neuroectodermal tumor subtype. Because of their rarity, pineoblastomas are still poorly understood, and there is little research delineating their molecular development and underlying genetic phenotype. Recent multiomic studies in pineoblastomas and pineal parenchymal tumors identified four clinically and biologically relevant consensus groups driven by signaling/processing pathways; however, molecular level alterations leading to these pathway changes are yet to be discovered, hence the importance of individually profiling every case of this rare tumor type. OBSERVATIONS: The authors present the comprehensive somatic genomic profiling of a patient with pineoblastoma presenting with the loss of protein polybromo-1 (PBRM1) as a candidate genomic driver. Loss of PBRM1, a tumor suppressor, has been reported as a driver event in various cancer types, including renal cell carcinoma, bladder carcinoma, and meningiomas with papillary features. LESSONS: This is the first report presenting biallelic loss of PBRM1 as a candidate molecular driver in relation to pineoblastoma.

14.
Neurology ; 2022 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-35618432

RESUMO

Supplementary motor area (SMA) syndrome is a typically transient condition resulting from damage to the medial premotor cortex. The exact mechanism of recovery remains unknown but is traditionally described as a process involving functional compensation by the contralateral SMA through corpus callosal fibers. The purpose of this case study is to highlight a distinct extra-callosal mechanism of functional recovery from SMA syndrome in a patient with agenesis of the corpus callosum (ACC). We present the clinical presentation and perioperative functional neuroimaging features of a 16-year-old patient with complete ACC who exhibited recovery from an SMA syndrome resulting from surgical resection of a right-sided low-grade glioma. Preoperative functional MRI (fMRI) revealed anatomically concordant activation areas during finger and toe tapping tasks bilaterally. Three months following surgery, the patient had fully recovered, and a repeat fMRI revealed shift of the majority of the left toe tapping area from the expected contralateral hemisphere to the ipsilateral left paracentral lobule and SMA. The fMRI signal remodeling observed in this acallosal patient suggests that within-hemisphere plasticity of the healthy hemisphere may constitute an alternative critical process in SMA syndrome resolution and challenges the traditional view that transcallosal fibers are necessary for functional recovery.

15.
Clin Neurol Neurosurg ; 206: 106634, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33979695

RESUMO

OBJECTIVES: Racial disparities in spine surgery have been shown to impact surgical management and postoperative complications. However, for adolescent patients with idiopathic scoliosis (AIS) treated by posterior spinal fusion (PSF), the influence of race on postoperative outcomes remains unclear. The aim of the study was to investigate the differences in baseline patient demographics, inpatient management, and postoperative complications for adolescents with AIS undergoing elective, posterior spinal surgery (≥ 4 levels). PATIENTS AND METHODS: The Kids' Inpatient Database year 2012 was queried. Adolescent patients (age 10-17 years old) with AIS undergoing elective, PSF (≥ 4 levels) were selected using the International Classification of Diseases, Ninth Revision, Clinical Modification coding system. Patients were divided into 4 cohorts: Black, White, Hispanic, and Other. Patient demographics, comorbidities, complications, length of hospital stay (LOS), discharge disposition and total cost were recorded. The primary outcome was the rate of intraoperative and postoperative complications and resource utilization after elective PSF intervention. RESULTS: Patient demographics significantly differed between the four cohorts. While age was similar (p = 0.288), the White cohort had a greater proportion of female patients (White: 79.0%; Black: 72.1%; Hispanic: 78.2%; Other: 75.9%, p = 0.006), and the Black cohort had the largest proportion of patients in the 0-25th income quartile (White: 16.1%; Black: 43.3%; Hispanic: 28.0%; Other: 15.3%, p < 0.001). There were significant differences in hospital region (p < 0.001) and bed size (p < 0.001) between the cohorts, with more Hispanic adolescents being treated in the West (White: 21.9%; Black: 8.9%; Hispanic: 40.3%; Other: 29.3%) at small hospitals (White: 14.0%; Black: 13.9%; Hispanic: 16.2%; Other: 7.1%). Baseline comorbidities were similar between the cohorts. The use of blood transfusions was significantly greater in the Black cohort compared to the other racial groups (White: 16.7%; Black: 25.0%; Hispanic: 24.5%; Other: 22.7%, p < 0.001). The number of vertebral levels involved differed significantly between the cohorts (p < 0.001), with the majority of patients having 9-levels or greater involved (White: 80.9%; Black: 81.7%; Hispanic: 84.3%; Other: 67.3%). The rate of complications encountered during admission was greatest in the Other cohort (White: 21.9%; Black: 23.6%; Hispanic: 22.2%; Other: 34.9%, p < 0.001). While LOS was similar between the cohorts (p = 0.702), median total cost of admission was highest for Hispanic patients (White: $49,340 [37,908-65,078]; Black: $47,787 [37,718-64,670]; Hispanic: $54,718 [40,689-69,266]; Other: $54,110 [41,292-71,540], p < 0.001). CONCLUSIONS: Our study suggests that race may not have a significant impact on surgical outcomes after elective posterior spine surgery for adolescent idiopathic scoliosis. Further studies are necessary to corroborate our findings.


Assuntos
Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Complicações Pós-Operatórias/etnologia , Escoliose/cirurgia , Fusão Vertebral , Resultado do Tratamento , Adolescente , Criança , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Fatores Raciais , Estudos Retrospectivos
16.
NPJ Precis Oncol ; 5(1): 8, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33580181

RESUMO

Gliosarcoma is a variant of glioblastoma with equally poor prognosis and characterized by mixed glial and mesenchymal pathology. Metastasis is not uncommon but the involvement of the spinal cord is rare, and comprehensive genetic characterization of spinal gliosarcoma is lacking. We describe a patient initially diagnosed with a low-grade brain glioma via biopsy, followed by adjuvant radiation and temozolomide treatment. Nearly 2 years after diagnosis, she developed neurological deficits from an intradural, extramedullary tumor anterior to the spinal cord at T4, which was resected and diagnosed as gliosarcoma. Whole-exome sequencing (WES) of this tumor revealed a hypermutated phenotype, characterized by somatic mutations in key DNA mismatch repair (MMR) pathway genes, an abundance of C>T transitions within the identified somatic single nucleotide variations, and microsatellite stability, together consistent with temozolomide-mediated hypermutagenesis. This is the first report of a hypermutator phenotype in gliosarcoma, which may represent a novel genomic mechanism of progression from lower grade glioma.

17.
World Neurosurg ; 149: e737-e747, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33548534

RESUMO

OBJECTIVE: The aim of this study was to determine the impact of preoperative pulmonary risk factors (PRFS) on surgical outcomes after posterior spinal fusion (PSF) for adolescent idiopathic scoliosis (AIS). METHODS: A retrospective cohort study was performed using the American College of Surgeons National Surgical Quality Improvement Program-Pediatric database from 2016 to 2018. All pediatric patients with AIS undergoing PSF were identified. Patients were then categorized by whether they had recorded baseline PRF or no-PRF. Patient demographics, comorbidities, intraoperative variables, complications, length of stay, discharge disposition, and readmission rate were assessed. RESULTS: A total of 4929 patients were identified, of whom 280 (5.7%) had baseline PRF. Compared with the no-PRF cohort, the PRF cohort had higher rates of complications (PRF, 4.3% vs. no-PRF, 2.2%; P = 0.03) and longer hospital stays (PRF, 4.6 ± 4.3 days vs. no-PRF, 3.8 ± 2.3 days; P < 0.001), yet, discharge disposition was similar between cohorts (P = 0.70). Rates of 30-day unplanned readmission were significantly higher in the PRF cohort (PRF, 6.3% vs. no-PRF, 2.7%; P = 0.009), yet, days to readmission (P = 0.76) and rates of 30-day reoperation (P = 0.16) were similar between cohorts. On multivariate analysis, PRF was found to be a significant independent risk factor for longer hospital stays (risk ratio, 0.74; 95% confidence interval, 0.44-1.04; P < 0.001) but not postoperative complication or 30-day unplanned readmission. CONCLUSIONS: Our study showed that PRF may be a risk factor for slightly longer hospital stays without higher rates of complication or unplanned readmission for patients with AIS undergoing PSF and thus should not preclude surgical management.


Assuntos
Hospitais/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Complicações Pós-Operatórias/etiologia , Escoliose/cirurgia , Adolescente , Criança , Bases de Dados Factuais , Feminino , Humanos , Cifose/cirurgia , Masculino , Reoperação/efeitos adversos , Fatores de Risco , Fusão Vertebral/efeitos adversos
18.
Plast Reconstr Surg ; 147(2): 265e-267e, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33565831

RESUMO

SUMMARY: Metopic craniosynostosis results in trigonocephaly, characterized by a triangular forehead with metopic ridge, bitemporal pinching, and narrow-set eyes with recessed lateral orbital rims. Surgical management is controversial but may include open expansion and vault remodeling, to enhance neurocognitive and aesthetic outcomes. This article and video vignette depict the diagnosis and treatment of metopic craniosynostosis, demonstrating the senior author's open approach, three-dimensional virtual surgical planning, and technical steps.


Assuntos
Craniossinostoses/cirurgia , Imageamento Tridimensional , Planejamento de Assistência ao Paciente , Procedimentos de Cirurgia Plástica/métodos , Craniossinostoses/diagnóstico , Feminino , Testa/diagnóstico por imagem , Testa/cirurgia , Humanos , Lactente , Órbita/diagnóstico por imagem , Órbita/cirurgia , Retalhos Cirúrgicos/transplante , Tomografia Computadorizada por Raios X , Resultado do Tratamento
19.
J Craniofac Surg ; 32(5): 1721-1726, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33534301

RESUMO

INTRODUCTION: In this study, the authors seek to clarify the neurological changes before and after whole vault cranioplasty (WVC) in patients born with sagittal craniosynostosis. METHODS: A case control study design was performed that included thirty functional MRI scans, from 25 individual patients. Functional MRI and diffusion tension imaging data were analyzed with BioImageSuite (Yale University, USA). 9 functional brain networks were analyzed, with appropriate correlated functional regions of the brain and utilized for analysis. RESULTS: Comparing functional MRI the infants after WVC versus infants before WVC group, the after WVC group demonstrated an increased connectivity in the left frontoparietal, secondary (V2), and third (V3) visual networks (P < 0.001). The right frontoparietal (RFPN) had decreased connectivity (P < 0.001). There is also a decrease and increase in anisotropy in the cingulum and precuneus despite surgery, respectively (P < 0.05). Adolescents treated with WVC compared to controls, demonstrated an increased connectivity in the salience and decreased connectivity in the RFPN relative to adolescent controls. CONCLUSIONS: Patients born with sagittal craniosynostosis have different connections in infancy in most of the defined cerebral networks compared to controls. After surgery, there are specific connectivity changes that occur in the RFPN, left frontoparietal, V2, and V3 networks, which are areas associated with executive function and emotional control. Changes identified in white matter tract microstructure connections could be influential in changes in functional connectivity. Although, as a child with sagittal craniosynostosis develops, much of the abnormal network connections, seen in infancy preoperatively, corrects to some degree after surgery. However, some aberrancies in the salience and RFPN networks remain potentially affecting executive functioning.


Assuntos
Craniossinostoses , Imageamento por Ressonância Magnética , Adolescente , Encéfalo , Estudos de Casos e Controles , Criança , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Humanos , Lactente , Rede Nervosa
20.
Neurooncol Adv ; 2(1): vdaa019, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32642681

RESUMO

BACKGROUND: Mounting evidence supports the presence of heterogeneity in the presentation of ependymoma patients with respect to location, histopathology, and behavior between pediatric and adult patients. However, the influence of age on treatment outcomes in ependymoma remains obscure. METHODS: The SEER database years 1975-2016 were queried. Patients with a diagnosis of ependymoma were identified using the International Classification of Diseases for Oncology, Third Edition, coding system. Patients were classified into one of 4 age groups: children (age 0-12 years), adolescents (age 13-21 years), young adults (age 22-45 years), and older adults (age >45 years). The weighed multivariate analysis assessed the impact of age on survival outcomes following surgical treatment. RESULTS: There were a total of 6076 patients identified with ependymoma, of which 1111 (18%) were children, 529 (9%) were adolescents, 2039 (34%) were young adults, and 2397 (40%) were older adults. There were statistically significant differences between cohorts with respect to race (P < .001), anatomical location (P < .001), extent of resection (P < .001), radiation use (P < .001), tumor grade (P < .001), histological classification (P < .001), and all-cause mortality (P < .001). There was no significant difference between cohorts with respect to gender (P = .103). On multivariate logistic regression, factors associated with all-cause mortality rates included males (vs females), supratentorial location (vs spinal cord tumors), and radiation treatment (vs no radiation). CONCLUSIONS: Our study using the SEER database demonstrates the various demographic and treatment risk factors that are associated with increased rates of all-cause mortality between the pediatric and adult populations following a diagnosis of ependymoma.

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