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1.
J Pediatr Orthop B ; 2022 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-35132000

RESUMO

OBJECTIVES: To synthesize evidence regarding spinal screening recommendations, types of spinal and thoracic neurofibromatosis type 1 (NF1) tumors, medical therapy for NF1-associated neoplasms, and treatment with magnetically controlled growing rods (MCGRs) or cervical kyphosis correction in pediatric patients with NF1. METHODS: We queried PubMed, Embase, Cochrane Library, Web of Science, Scopus, Clinicaltrials.gov, and medRxiv for studies reporting spinal screening recommendations, prognosis, and medical therapy for NF1-associated spinal tumors and MCGR use or cervical kyphosis correction in pediatric NF1 patients, yielding 758 publications, 33 of which were included. RESULTS: There is no consensus on spinal screening interval. Computed tomography is recommended for postoperative monitoring. Patients with gangliomas and spinal neurofibromas had nearly complete symptom resolution after resection. Plexiform neurofibromas were most commonly treated with resection and laminectomy; some patients reported tumor enlargement after intervention. Malignant nerve sheath tumors have high rates of metastasis even after chemoradiation and resection. MEK-inhibitors produced limited regression in tumor size. Sirolimus and thalidomide reduced tumor size but caused more severe adverse effects than MEK-inhibitors. Improvements in major curves and T1-T12 height gain were reported after MCGR intervention. Anteroposterior arthrodesis produced the greatest correction of dystrophic cervical kyphosis. CONCLUSION: There may be value in establishing standardized spinal screening protocols for pediatric NF1 patients. Surgical correction of NF1-associated spinal deformity is effective, though current medical therapies for spinal tumors have limited success. Areas for further investigation include determining appropriate screening intervals, choice of medical therapy for spinal tumors, and long-term outcomes of MCGRs. Level of Evidence: IV.

2.
Nat Rev Endocrinol ; 18(3): 173-189, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34837063

RESUMO

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.


Assuntos
Acondroplasia , Qualidade de Vida , Acondroplasia/diagnóstico , Acondroplasia/genética , Acondroplasia/terapia , Consenso , Humanos , Mutação , Osteogênese , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética
3.
J Pediatr Orthop ; 42(2): 77-82, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34882588

RESUMO

BACKGROUND: Patients with early-onset scoliosis (EOS) and spasticity may receive treatment with an intrathecal baclofen pump. We assessed how baclofen pumps are associated with the odds of complications and secondary interventions after growth-friendly (GF) spine surgery for EOS and analyzed infectious complications within the pump cohort. METHODS: Using a prospectively maintained, international multicenter database, we studied patients with neuromuscular EOS with baclofen pumps who underwent GF spine surgery from 2002 through 2019 (n=25). Baclofen pumps were implanted before GF instrumentation in 18 patients, during in 2 patients, and after in 5 patients. Patients with existing pumps at initial GF spine surgery were matched 1:3 with 54 patients (control group) without pumps according to treatment center, year of surgery, diagnosis, surgery type, and preoperative curve magnitude. Univariate analysis and multivariate logistic regression were performed to compare complications and secondary interventions between the 2 cohorts. RESULTS: Patients with baclofen pumps had 4.8 times the odds [95% confidence interval (CI): 1.5-16] of experiencing any complication within 1 year after initial GF spine surgery compared with controls. During mean follow-up of 6.9±4.3 years, they had 4.7 times the odds (95% CI: 1.3-16) of deep surgical site infection and 5.6 times the odds (95% CI: 1.2-26) of spinal rod removal after any complication. Differences in rates of mechanical complication, such as rod migration and breakage, were nonsignificant between the 2 groups. For the 9 patients (50%) with pumps who experienced infections, the most common microorganisms were Staphylococcus aureus (4 patients) and Pseudomonas aeruginosa (2). The pump/catheter was revised or removed, in addition to antibiotic therapy or surgical irrigation and debridement, in 2 patients. CONCLUSIONS: Among patients with neuromuscular EOS, those with baclofen pumps are much more likely to experience complications within 1 year after GF spine surgery. They are also more likely to have deep surgical site infections, with S. aureus and P. aeruginosa being the most common causative organisms, and to require spinal rod removal. LEVEL OF EVIDENCE: Level III-retrospective comparative study.


Assuntos
Relaxantes Musculares Centrais , Escoliose , Fusão Vertebral , Baclofeno/efeitos adversos , Humanos , Bombas de Infusão Implantáveis , Estudos Retrospectivos , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Staphylococcus aureus
4.
Neurosurg Clin N Am ; 33(1): 1-5, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34801134

RESUMO

The developing field of syndromic neurosurgery has significant challenges and opportunities in quality and safety. Quality care must be safe, effective, patient-centered, timely, efficient, and equitable; the Donabedian model focused on system structures, processes, and outcomes is a helpful framework to guide improvement in these areas. Ultimately, a successful syndromic neurosurgery program will bring together an interested multidisciplinary team of experts who will grow care through open communication and steady improvement efforts.


Assuntos
Neurocirurgia , Comunicação , Humanos , Melhoria de Qualidade
5.
Neurosurg Clin N Am ; 33(1): 25-35, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34801139

RESUMO

Much of the current medical discussion for within centers for skeletal dysplasia and specifically patients with achondroplasia focuses on infancy and early childhood. Most neurosurgical concerns arise due to a defect in the endochondral ossification, resulting on early fusion of the synchondrosis. As patients age, the neurosurgical focus shifts from primarily cranial to spinal concerns. Often pediatric neurosurgeons may continue to follow their patients with skeletal dysplasia. However, general adult neurosurgeons and orthopedic surgeons may see these graduated adults in their practice. This article provides a review of the common neurosurgical concerns for patients with achondroplasia.


Assuntos
Acondroplasia , Forame Magno , Acondroplasia/cirurgia , Adulto , Criança , Pré-Escolar , Constrição Patológica , Humanos , Lactente
6.
Neurosurg Clin N Am ; 33(1): 81-89, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34801145

RESUMO

The phakomatoses are a group of genetic and acquired disorders characterized by neurologic, cutaneous, and often ocular manifestations, thus commonly referred to as neurocutaneous syndromes. In several of these conditions the underlying genetic pathophysiology has been elucidated, which will continue to play an important role in advancing therapeutic techniques. This article focuses on several examples of such neurocutaneous syndromes, with special attention to the relevant neurosurgical considerations of these patients.


Assuntos
Síndromes Neurocutâneas , Esclerose Tuberosa , Humanos , Síndromes Neurocutâneas/cirurgia
8.
J Neurosurg Pediatr ; : 1-10, 2021 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-34507296

RESUMO

OBJECTIVE: Pediatric intracranial aneurysms are rare. Most large series in the last 15 years reported on an average of only 39 patients. The authors sought to report their institutional experience with pediatric intracranial aneurysms from 1991 to 2021 and to compare pediatric patient and aneurysm characteristics with those of a contemporaneous adult cohort. METHODS: Pediatric (≤ 18 years of age) and adult patients with one or more intracranial aneurysms were identified in a prospective database. Standard epidemiological features and outcomes of each pediatric patient were retrospectively recorded. These results were compared with those of adult aneurysm patients managed at a single institution over the same time period. RESULTS: From a total of 4500 patients with 5150 intracranial aneurysms admitted over 30 years, there were 47 children with 53 aneurysms and 4453 adults with 5097 aneurysms; 53.2% of children and 36.4% of adults presented with a subarachnoid hemorrhage (SAH). Pediatric aneurysms were significantly more common in males, more likely giant (≥ 25 mm), and most frequently located in the middle cerebral artery. Overall, 85.1% of the pediatric patients had a modified Rankin Scale score ≤ 2 at the last follow-up (with a mean follow-up of 65.9 months), and the pediatric mortality rate was 10.6%; all 5 patients who died had an SAH. The recurrence rate of treated aneurysms was 6.7% (1/15) in the endovascular group but 0% (0/31) in the microsurgical group. No de novo aneurysms occurred in children (mean follow-up 5.5 years). CONCLUSIONS: Pediatric intracranial aneurysms are significantly different from adult aneurysms in terms of sex, presentation, location, size, and outcomes. Future prospective studies will better characterize long-term aneurysm recurrence, rebleeds, and de novo aneurysm occurrences. The authors currently favor microsurgical over endovascular treatment for pediatric aneurysms.

9.
Fetal Diagn Ther ; 48(8): 603-610, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34518445

RESUMO

INTRODUCTION: Prenatal closure of open spina bifida via open fetal surgery improves neurologic outcomes for infants in selected pregnancies. Fetoscopic techniques that are minimally invasive to the uterus aim to provide equivalent fetal benefits while minimizing maternal morbidities, but the optimal technique is undetermined. We describe the development, evolution, and feasibility of the laparotomy-assisted 2-port fetoscopic technique for prenatal closure of fetal spina bifida in a newly established program. METHODS: We conducted a retrospective cohort study of women consented for laparotomy-assisted fetoscopic closure of isolated fetal spina bifida. Inclusion and exclusion criteria followed the Management of Myelomeningocele Study (MOMS). Team preparation involved observation at the originating center, protocol development, ancillary staff training, and surgical rehearsal using patient-matched models through simulation prior to program implementation. The primary outcome was the ability to complete the repair fetoscopically. Secondary maternal and fetal outcomes to assess performance of the technique were collected prospectively. RESULTS: Of 57 women screened, 19 (33%) consented for laparotomy-assisted 2-port fetoscopy between February 2017 and December 2019. Fetoscopic closure was completed in 84% (16/19) cases. Over time, the technique was modified from a single- to a multilayer closure. In utero hindbrain herniation improved in 86% (12/14) of undelivered patients at 6 weeks postoperatively. Spontaneous rupture of membranes occurred in 31% (5/16) of fetoscopic cases. For completed cases, median gestational age at birth was 37 (range 27-39.6) weeks and 50% (8/16) of women delivered at term. Vaginal birth was achieved in 56% (9/16) of patients. One newborn had a cerebrospinal fluid leak that required postnatal surgical repair. CONCLUSION: Implementation of a laparotomy-assisted 2-port fetoscopic spina bifida closure program through rigorous preparation and multispecialty team training may accelerate the learning curve and demonstrates favorable obstetric and perinatal outcomes.


Assuntos
Meningomielocele , Disrafismo Espinal , Feminino , Fetoscopia/efeitos adversos , Humanos , Lactente , Recém-Nascido , Laparotomia , Meningomielocele/cirurgia , Gravidez , Estudos Retrospectivos , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/cirurgia
10.
J Neurosurg Pediatr ; 27(6): 649-660, 2021 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-33799292

RESUMO

OBJECTIVE: Cervical traction in pediatric patients is an uncommon but invaluable technique in the management of cervical trauma and deformity. Despite its utility, little empirical evidence exists to guide its implementation, with most practitioners employing custom or modified adult protocols. Expert-based best practices may improve the care of children undergoing cervical traction. In this study, the authors aimed to build consensus and establish best practices for the use of pediatric cervical traction in order to enhance its utilization, safety, and efficacy. METHODS: A modified Delphi method was employed to try to identify areas of consensus regarding the utilization and implementation of pediatric cervical spine traction. A literature review of pediatric cervical traction was distributed electronically along with a survey of current practices to a group of 20 board-certified pediatric neurosurgeons and orthopedic surgeons with expertise in the pediatric cervical spine. Sixty statements were then formulated and distributed to the group. The results of the second survey were discussed during an in-person meeting leading to further consensus. Consensus was defined as ≥ 80% agreement on a 4-point Likert scale (strongly agree, agree, disagree, strongly disagree). RESULTS: After the initial round, consensus was achieved with 40 statements regarding the following topics: goals, indications, and contraindications of traction (12), pretraction imaging (6), practical application and initiation of various traction techniques (8), protocols in trauma and deformity patients (8), and management of traction-related complications (6). Following the second round, an additional 9 statements reached consensus related to goals/indications/contraindications of traction (4), related to initiation of traction (4), and related to complication management (1). All participants were willing to incorporate the consensus statements into their practice. CONCLUSIONS: In an attempt to improve and standardize the use of cervical traction in pediatric patients, the authors have identified 49 best-practice recommendations, which were generated by reaching consensus among a multidisciplinary group of pediatric spine experts using a modified Delphi technique. Further study is required to determine if implementation of these practices can lead to reduced complications and improved outcomes for children.


Assuntos
Benchmarking , Vértebras Cervicais/cirurgia , Tração/métodos , Criança , Consenso , Técnica Delfos , Humanos
11.
Childs Nerv Syst ; 37(4): 1301-1306, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33242106

RESUMO

PURPOSE: To date, the description of the natural course of concurrent tethered cord syndrome with a low-lying conus medullaris and split cord malformation is lacking in the literature. We report a cohort of adult and pediatric patients with concurrent malformations and long-term follow-up. METHODS: Patients with concurrent diagnoses of split cord malformation and tethered cord (radiographic evidence supporting clinical symptomatology) were identified between 2000 and 2020. Patients without sufficient documentation or at least 6-month follow-up were excluded. RESULTS: Nine patients were identified with an average of 8.9 years follow-up (range 2-31 years). The most common symptoms were radiating leg pain and lower extremity paresthesias, occurring in 44% of patients; and bladder/bowel dysfunction, worsening scoliosis, and acute motor deterioration were less common. Two patients were successfully treated conservatively for mild leg pain and paresthesias. For those who underwent surgery, all experienced symptomatic relief upon first follow-up. Two had late symptomatic recurrence; one 4 and 8 years after initial surgery; and the other, 11, 26, and 31 years after initial surgery. CONCLUSION: The rarity of concurrent split cord and tethered cord syndrome with a low-lying conus makes management difficult to formulate. This series supplements our knowledge of the long-term outcomes and lessons learned from the management of these patients. Approximately 25% of patients were managed conservatively and had symptomatic improvement. For surgically managed patients, with intractable pain or worsening neurological function, symptoms can still recur over a decade after intervention. Reoperation, however, can still be beneficial, can provide years of relief, and should be considered.


Assuntos
Defeitos do Tubo Neural , Adulto , Criança , Seguimentos , Humanos , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/cirurgia , Dor , Estudos Retrospectivos , Medula Espinal , Resultado do Tratamento
12.
Pediatr Neurosurg ; 55(6): 363-373, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33264792

RESUMO

INTRODUCTION: Despite folate supplementation, neural tube defects (NTDs) still occur in 0.5-1.0/1,000 pregnancies, with 30-50% not preventable with folate. Twinning has increased due to artificial fertilization and in itself predisposes to NTDs at a rate of 1.6/1,000. The contributions of genetic and environmental factors to myelomeningocele development remain poorly understood. Expression patterns of congenital pathologies in twins can sometimes provide etiological insight. Concordance of NTDs in twins is 0.03/1,000, with dual myelomeningocele reported in only 23 pairs, only one of which survived. We present the 24th pair, the 1st to maintain lower extremity motor function. We review all prior cases and discuss implications of twin concordance on the interplay of genetic and environmental influences. Case Report and Review: A new case of female monozygotic twins born to a well-nourished 24-year-old female is reported with details of perioperative care. Prenatal ultrasound showed L3-S4 and L5-S4 myelomeningoceles, Chiari II malformations, and ventriculomegaly. Copy number microarray was unrevealing. Each underwent uncomplicated repair on day of life 1, and ventriculoperitoneal shunt placement on days of life 10 and 16. Both had movement in the legs upon 6-week follow-up. All prior reported cases of concordant twin myelomeningoceles were abstracted and analyzed, revealing persistence of occurrence despite folate supplementation and a majority occurring in dizygotic pairs. The literature is also reviewed to summarize current knowledge of myelomeningocele pathophysiology as it relates to genetic and environmental influences. DISCUSSION: Meticulous surgical and perioperative care allowed for early positive outcomes in each twin. However, etiopathogenesis remains elusive. In general, only of a minority of cases have underlying genetic lesions or clear environmental triggers. Concordance in monozygotic twins argues for a strong genetic influence; yet, literature review reveals a higher rate of concordant dizygotic twins. This, along with the observation of differing resultant phenotypes in monozygotic twins as seen in this case, prompts further investigation into nonfolate environmental influences. While efforts in genetic investigation should continue, the role of teratogens and exposures should not be minimized in research efforts, public health, and family counseling. Clinical genetic testing remains of limited utility in the majority of patients until more is known.


Assuntos
Meningomielocele , Defeitos do Tubo Neural , Adulto , Doenças em Gêmeos/genética , Feminino , Humanos , Meningomielocele/genética , Meningomielocele/cirurgia , Gravidez , Gêmeos Dizigóticos , Gêmeos Monozigóticos/genética , Derivação Ventriculoperitoneal , Adulto Jovem
13.
J Neurosurg Pediatr ; 27(2): 225-238, 2020 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-33254141

RESUMO

OBJECTIVES: More than 7500 children undergo surgery for scoliosis each year, at an estimated annual cost to the health system of $1.1 billion. There is significant interest among patients, parents, providers, and payors in identifying methods for delivering quality outcomes at lower costs. Enhanced recovery after surgery (ERAS) protocols have been suggested as one possible solution. Here the authors conducted a systematic review of the literature describing the clinical and economic benefits of ERAS protocols in pediatric spinal deformity surgery. METHODS: The authors identified all English-language articles on ERAS protocol use in pediatric spinal deformity surgery by using the following databases: PubMed/MEDLINE, Web of Science, Cochrane Reviews, EMBASE, CINAHL, and OVID MEDLINE. Quantitative analyses of comparative articles using random effects were performed for the following clinical outcomes: 1) length of stay (LOS); 2) complication rate; 3) wound infection rate; 4) 30-day readmission rate; 5) reoperation rate; and 6) postoperative pain scores. RESULTS: Of 950 articles reviewed, 7 were included in the qualitative analysis and 6 were included in the quantitative analysis. The most frequently cited benefits of ERAS protocols were shorter LOS, earlier urinary catheter removal, and earlier discontinuation of patient-controlled analgesia pumps. Quantitative analyses showed ERAS protocols to be associated with shorter LOS (mean difference -1.12 days; 95% CI -1.51, -0.74; p < 0.001), fewer postoperative complications (OR 0.37; 95% CI 0.20, 0.68; p = 0.001), and lower pain scores on postoperative day (POD) 0 (mean -0.92; 95% CI -1.29, -0.56; p < 0.001) and POD 2 (-0.61; 95% CI -0.75, -0.47; p < 0.001). There were no differences in reoperation rate or POD 1 pain scores. ERAS-treated patients had a trend toward higher 30-day readmission rates and earlier discontinuation of patient-controlled analgesia (both p = 0.06). Insufficient data existed to reach a conclusion about cost differences. CONCLUSIONS: The results of this systematic review suggest that ERAS protocols may shorten hospitalizations, reduce postoperative complication rates, and reduce postoperative pain scores in children undergoing scoliosis surgery. Publication biases exist, and therefore larger, prospective, multicenter data are needed to validate these results.


Assuntos
Recuperação Pós-Cirúrgica Melhorada , Procedimentos Neurocirúrgicos/métodos , Procedimentos Ortopédicos/métodos , Escoliose/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino
14.
J Neurosurg Pediatr ; 26(6): 676-681, 2020 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-32947256

RESUMO

OBJECTIVE: The immediate and long-term risk of anesthesia in the pediatric population is controversial. Traditional spine MRI protocols require the patient to remain still during the examination, and in young children this frequently results in the need for sedation administration. The authors' goal was to develop an abbreviated spine MRI protocol to reduce sedation administration in young patients undergoing spine MRI. METHODS: After IRB approval, the medical records of all pediatric patients who underwent a fast spine MRI protocol between 2017 and 2019 were reviewed. The protocol consisted of T2-weighted half-Fourier acquisition single-shot turbo spin echo, T1-weighted turbo spin echo, and T2-weighted STIR sequences acquired in the sagittal plane. The total acquisition time was 2 minutes with no single sequence acquisition longer than 60 seconds. Interpretability of the scans was assessed in accordance with the radiology report in conjunction with the neurosurgeon's clinical notes. RESULTS: A total of 47 fast spine MRI sessions were performed in 45 patients. The median age at the time of the MRI was 2.4 years (25th-75th quartile, 1.1-4.3 years; range 0.16-18.58 years). The most common indication for imaging was to rule out or follow a known syrinx (n = 30), followed by the need to rule out or follow known spinal dysraphism (n = 22). There were no uninterpretable or unusable scans. Eight of 47 scans were noted to have moderate motion artifact limitations with respect to the quality of the scan. Seven patients underwent a subsequent MRI with a sedated standard spine protocol within 1 year from the fast scan, which confirmed the findings on the fast MRI protocol with no new findings identified. CONCLUSIONS: The authors report the first pediatric series of a fast spine MRI protocol for use in young patients. The protocol does not require sedation and is able to identify and monitor syrinx, spinal dysraphism, and potentially other intraspinal anomalies.


Assuntos
Imageamento por Ressonância Magnética/métodos , Coluna Vertebral/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Protocolos Clínicos , Sedação Consciente , Feminino , Humanos , Lactente , Vértebras Lombares , Masculino , Exame Neurológico , Estudos Retrospectivos , Marcadores de Spin , Disrafismo Espinal/diagnóstico por imagem
15.
Sci Rep ; 9(1): 18722, 2019 12 10.
Artigo em Inglês | MEDLINE | ID: mdl-31822682

RESUMO

Intramedullary spinal cord tumors (IMSCTs) are rare neoplasms that have limited treatment options and are associated with high rates of morbidity and mortality. To better understand the genetic basis of these tumors we performed whole exome sequencing on 45 tumors and matched germline DNA, including twenty-nine spinal cord ependymomas and sixteen astrocytomas. Though recurrent somatic mutations in IMSCTs were rare, we identified NF2 mutations in 15.7% of tumors (ependymoma, N = 7; astrocytoma, N = 1), RP1 mutations in 5.9% of tumors (ependymoma, N = 3), and ESX1 mutations in 5.9% of tumors (ependymoma, N = 3). We further identified copy number amplifications in CTU1 in 25% of myxopapillary ependymomas. Given the paucity of somatic driver mutations, we further performed whole-genome sequencing of 12 tumors (ependymoma, N = 9; astrocytoma, N = 3). Overall, we observed that IMSCTs with intracranial histologic counterparts (e.g. glioblastoma) did not harbor the canonical mutations associated with their intracranial counterparts. Our findings suggest that the origin of IMSCTs may be distinct from tumors arising within other compartments of the central nervous system and provides the framework to begin more biologically based therapeutic strategies.


Assuntos
Glioma/genética , Neoplasias da Medula Espinal/genética , Adolescente , Adulto , Idoso , Astrocitoma/patologia , Ependimoma/patologia , Feminino , Genômica , Glioblastoma/patologia , Glioma/patologia , Proteínas de Homeodomínio/genética , Humanos , Masculino , Proteínas Associadas aos Microtúbulos/genética , Pessoa de Meia-Idade , Neurofibromina 2/genética , Medula Espinal/patologia , Neoplasias da Medula Espinal/patologia , Sequenciamento Completo do Exoma/métodos
16.
Neurosurg Focus ; 47(4): E10, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31574464

RESUMO

OBJECTIVE: Improvements in imaging and surgical technological innovations have led to the increasing implementation of fetal surgical techniques. Open fetal surgery has demonstrated more favorable clinical outcomes in children born with open myelomeningocele (MMC) than those following postnatal repair. However, primarily because of maternal risks but also because of fetal risks, fetal surgery for MMC remains controversial. Here, the authors evaluated the contemporary management of MMC in the hope of identifying barriers and facilitators for neurosurgeons in providing fetal surgery for MMC. METHODS: An online survey was emailed to members of the Congress of Neurological Surgeons (CNS) and the International Society for Pediatric Neurosurgery (ISPN) in March 2019. The survey focused on 1) characteristics of the respondents, 2) the practice of counseling on and managing prenatally diagnosed MMC, and 3) barriers, facilitators, and expectations of fetal surgery for MMC. Reminders were sent to improve the response rate. RESULTS: A total of 446 respondents filled out the survey, most (59.2%) of whom specialized in pediatric neurosurgery. The respondents repaired an average of 9.6 MMC defects per year, regardless of technique. Regardless of the departments in which respondents were employed, 91.0% provided postnatal repair of MMC, 13.0% open fetal repair, and 4.9% fetoscopic repair. According to the surgeons, the most important objections to performing open fetal surgery were a lack of cases available to become proficient in the technique (33.8%), the risk of maternal complications (23.6%), and concern for fetal complications (15.2%). The most important facilitators according to advocates of prenatal closure are a decreased rate of shunt dependency (37.8%), a decreased rate of hindbrain herniation (27.0%), and an improved rate of motor function (18.9%). Of the respondents, only 16.9% agreed that open fetal surgery should be the standard of care. CONCLUSIONS: The survey results showed diversity in the management of patients with MMC. In addition, significant diversity remains regarding fetal surgery for MMC closure. Despite the apparent benefits of open fetal surgery in selected pregnancies, only a minority of centers and providers offer this technique. As a more technically demanding technique that requires multidisciplinary effort with less well-established long-term outcomes, fetoscopic surgery may face similar limited implementation, although the surgery may pose fewer maternal risks than open fetal surgery. Centralization of prenatal treatment to tertiary care referral centers, as well as the use of sophisticated training models, may help to augment the most commonly cited objection to the implementation of prenatal closure, which is the overall limited caseload.


Assuntos
Meningomielocele/cirurgia , Neurocirurgiões , Procedimentos Neurocirúrgicos , Rombencéfalo/anormalidades , Feminino , Fetoscopia/métodos , Feto/cirurgia , Humanos , Procedimentos Neurocirúrgicos/métodos , Gravidez
17.
Childs Nerv Syst ; 35(10): 1853-1862, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31342150

RESUMO

The literature about the association between Chiari malformations (CMs) and scoliosis has been growing over the last three decades; yet, no consensus on the optimal management approach in this patient population has been reached. Spinal anomalies such as isolated syrinxes, isolated CM, and CM with a syrinx are relatively common among patients with presumed idiopathic scoliosis (IS), a rule that also applies to scoliosis among CM patients as well. In CM patients, scoliosis presents with atypical features such as early onset, left apical or kyphotic curvature, and neurological deficits. While spinal X-rays are essential to confirm the diagnosis of scoliosis among CM patients, a magnetic resonance imaging (MRI) is also recommended in IS patients with atypical presentations. Hypotheses attempting to explain the occurrence of scoliosis in CM patients include cerebellar tonsillar compression of the cervicomedullary junction and uneven expansion of a syrinx in the horizontal plane of the spinal cord. Early detection of scoliosis on routine spinal examination and close follow-up on curve stability and progression are essential initial steps in the management of scoliosis, especially in patients with CM, who may require full spine MRI to screen for associated neuro-axial anomalies; bracing and spinal fusion may be subsequently pursued in high-risk patients.


Assuntos
Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico por imagem , Escoliose/complicações , Escoliose/diagnóstico por imagem , Siringomielia/complicações , Siringomielia/diagnóstico por imagem , Adolescente , Malformação de Arnold-Chiari/terapia , Criança , Humanos , Imageamento por Ressonância Magnética/tendências , Escoliose/terapia , Siringomielia/terapia
18.
Childs Nerv Syst ; 35(10): 1869-1873, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31127344

RESUMO

PURPOSE: Surgical decision-making in Chiari malformation type I (CM-I) patients tends to depend on the presence of neurological signs and symptoms, syringomyelia, and/or scoliosis, but significant variability exists from center to center. Here, we review the symptoms of CM-I in children and provide an overview of the differences in opinion regarding surgical indications, preferred surgical techniques, and measures of outcome. METHODS: A review of the literature was performed to identify publications relevant to the surgical management of pediatric CM-I patients. RESULTS: Most surgeons agree that asymptomatic patients without syringomyelia should not undergo prophylactic surgery, while symptoms of brainstem compression and/or lower cranial nerve dysfunction warrant surgery. Patients between these extremes, however, remain controversial, as does selection of the most appropriate surgical technique. CONCLUSIONS: The optimal surgical procedure for children with CM-I remains a point of contention, and widespread variability exists between and within centers.


Assuntos
Malformação de Arnold-Chiari/cirurgia , Tomada de Decisão Clínica/métodos , Gerenciamento Clínico , Procedimentos Neurocirúrgicos/métodos , Siringomielia/cirurgia , Malformação de Arnold-Chiari/diagnóstico por imagem , Descompressão Cirúrgica/métodos , Humanos , Siringomielia/diagnóstico por imagem
19.
J Neurosurg Spine ; 30(5): 700-704, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30717051

RESUMO

Growing rod surgery for skeletally immature patients helps correct severe scoliosis while allowing continued spinal column growth. Previous reports have studied vertebral body changes following growing rod surgery, but there are currently no published reports on alterations in pedicle morphology. Given the potential need for definitive spinal fusion with pedicle screw instrumentation, an awareness of changes in pedicle morphology is critical. A morphometric analysis of pedicles was performed using 3D reconstructions of 3 CT scans (preoperative and at 3 and 6 years) obtained in a young girl with infantile idiopathic scoliosis (T7 apex) who underwent unilateral rib-to-spine growing rod (2nd-4th ribs to L1) implantation with lengthening every 6 months for 6 years. The pedicle widths on the growing rod side from T5 to T9 (apex ± 2) were all smaller at 6 years postoperatively than preoperatively, while the same-level pedicles opposite the device significantly increased in width. These findings support anecdotal intraoperative reports by surgeons and provide evidence of pedicle stress shielding due to growing rod distraction and force deprivation.

20.
Minerva Ginecol ; 71(2): 163-170, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30486637

RESUMO

INTRODUCTION: Spina bifida is the most common non-lethal congenital birth defect of the central nervous system that causes chronic disability due to the combined effects of local nerve damage and the sequelae of non-communicating hydrocephalus. This abnormality can be identified early in gestation and the damage can be progressive over the course of pregnancy. Advances in fetal treatment have made minimally invasive prenatal surgery a realistic consideration for spina bifida in order to improve the outcome for children affected this condition. EVIDENCE ACQUISITION: Prenatal surgery for spina bifida via open fetal surgery with hysterotomy decreases the rate of ventriculoperitoneal shunt placement and improves motor function compared to standard postnatal surgery. Maternal risks of open fetal surgery are primarily related to complications of the hysterotomy including thinning or rupture that begins in the index pregnancy but persists for every future pregnancy. Minimizing maternal risks is the largest impetus to explore and optimize a minimally invasive fetoscopic alternative. Techniques vary from using a complete percutaneous approach to open fetoscopy, which requires laparotomy but is minimally invasive to the uterus. This allows vaginal delivery at term and no scar complications are reported thus far. Fetal short-term neurosurgical outcomes compare favorably with improvement in hindbrain herniation >70% and decreased need for treatment for hydrocephalus between 40-45% after prenatal surgery performed either fetoscopically or through open fetal surgery. EVIDENCE SYNTHESIS: Maternal obstetric outcomes are superior for fetoscopic spina bifida repair compared to open fetal surgery and avoids the ongoing risk in future pregnancy. Neonatal and infant benefits appear equivalent. The open fetoscopic approach minimizes the risk of ruptured membranes and subsequent preterm delivery as opposed to a completely percutaneous procedure. International collaboration is ongoing to share experience and assess long term treatment effects. CONCLUSIONS: Continued refinement of a minimally invasive strategy for prenatal treatment of spina bifida is necessary to maximize benefits to the child and further minimize maternal risks and preterm birth.


Assuntos
Fetoscopia/métodos , Resultado da Gravidez , Disrafismo Espinal/cirurgia , Feminino , Ruptura Prematura de Membranas Fetais/etiologia , Humanos , Recém-Nascido , Gravidez , Nascimento Prematuro/prevenção & controle , Cuidado Pré-Natal/métodos , Disrafismo Espinal/fisiopatologia
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