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STUDY DESIGN: Literature review with clinical recommendation. OBJECTIVE: A concise curation of the latest spine literature exploring the relationship between expectations and satisfaction for patients with metastatic spinal disease (MSD). Deliver recommendations to practicing clinicians regarding interpretation and utilisation of this evidence. METHODS: The latest spine literature in the topic of factors affecting the expectations of patients with MSD was reviewed and clinical recommendations were formulated. Recommendations are graded as strong or Conditional. RESULTS: 5 articles were selected. Article 1: risk factors for the development of dissatisfaction from a cohort of 362 MSD patients. Strong recommendation to incorporate risk factor assessment when considering treatment. Article 2: systematic review assessing the relationship between pre-operative patient expectations and subsequent satisfaction in allied disciplines. Conditional recommendation to optimize patient expectation to positively modify patient satisfaction. Article 3: qualitative study of how clinicians, from different specialties, counsel patients with MSD pre-treatment. Strong recommendation to use a multidisciplinary approach. Article 4 qualitative study of how MSD patients experience their pre-treatment counselling and how that affected their appreciation of treatment success. Conditional recommendation to furnish patients with tailored, expected outcomes in the context of systemic progression. Article 5 Design and validation of a pre-treatment questionnaire specific to MSD. A conditional recommendation to incorporate this questionnaire in clinical and research MSD practice. CONCLUSION: Patients with MSD are approaching end of life care and high levels of treatment satisfaction are crucial at this juncture. The role of expectation management and comprehensive counselling is critical.
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BACKGROUND AND OBJECTIVES: The Centers for Medicare & Medicaid Services implemented federal requirements on January 1, 2021, under the Public Health Service Act that require hospitals to provide a list of payer-negotiated prices or "standard charges" in a machine-readable file and in a patient-friendly online estimator for standard services. We sought to assess compliance by United States hospitals associated with neurosurgical training programs with these federal requirements for 11 common neurosurgical procedures. METHODS: We performed a cross-sectional analysis in March 2023 of 116 United States hospitals associated with a neurosurgical training program to assess compliance with the new federal requirements to have a machine-readable, downloadable file with standard charges and a patient-friendly online estimator for two spinal procedures. RESULTS: A total of 110/114 (96.5%) hospitals were compliant with the requirement for a machine-readable file with payer-negotiated prices. A total of 47/110 hospitals (42.7%) were compliant with downloadable machine-readable files and reported at least one payer-negotiated price for 1 of the 11 common neurosurgical procedures. A total of 45/110 (40.9%) used bundled Diagnosis-Related Group codes, and 18/110 (16.4%) did not contain any price information for neurosurgical procedures. For neurosurgical procedures, the percent difference between the average negotiated private insurance and Medicare price per procedure ranged from 17.5% to 77.6%. Medicare and private insurance data for each procedure were available on average for 10.3 states (SD = 3.8) and 15.6 states (SD = 4.8), respectively. CONCLUSION: While hospital compliance with federal requirements for machine-readable files with payer-negotiated prices was high, availability of payer-negotiated prices for 4 major insurance types across 11 common neurosurgical procedures based on Current Procedural Terminology codes was sparce. Consequently, meaningful conclusions on procedure-related charges for elective procedures are difficult for patients to make because of the unintelligible format of data and a lack of reporting of charges per Current Procedural Terminology code in a comprehensive manner.
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Los paradigmas de tratamiento para pacientes con metástasis de columna vertebral han evolucionado significativamente en las últimas dos décadas. El cambio más transformador de estos paradigmas ha sido la integración de la radiocirugía estereotáctica espinal (sSRS). La sSRS permite la administración de dosis de radiación lítica con preservación de los órganos cercanos en riesgo, particularmente la médula espinal. La evidencia apoya la seguridad y la eficacia de la radiocirugía, ya que actualmente ofrece un control tumoral local duradero con bajas tasas de complicaciones, incluso para tumores que anteriormente se consideraban radiorresistentes a la radioterapia convencional de haz externo. El papel de la intervención quirúrgica sigue siendo consistente, pero se ha observado una tendencia hacia técnicas menos agresivas, a menudo mínimamente invasivas. Utilizando tecnologías modernas e instrumentación mejorada, los resultados quirúrgicos continúan mejorando con una morbilidad reducida. Además, los agentes dirigidos, como los productos biológicos y los inhibidores de puntos de control, han revolucionado la atención del cáncer al mejorar tanto el control local como la supervivencia del paciente. Estos avances han dado lugar a la necesidad de nuevas herramientas de pronóstico y a una revisión más crítica de los resultados a largo plazo. La naturaleza compleja de los esquemas de tratamiento actuales requiere un enfoque multidisciplinario que incluya cirujanos, oncólogos médicos, oncólogos radioterápicos, intervencionistas y especialistas en dolor. Esta revisión recapitula los datos actuales basados en la evidencia sobre el tratamiento de las metástasis espinales e integra estos datos en un marco de decisión, NOMS, que se basa en cuatro pilares centinela de la toma de decisiones en tumores metastásicos de la columna vertebral: estado neurológico, comportamiento oncológico del tumor, estabilidad mecánica, y carga sistémica de la enfermedad y comorbilidades médicas.(AU)
Spinal metastases are a common oncologic challenge as 2040% of cancer patients are affected during the course of their illness and up to 20% of those will become symptomatic from spinal cord compression.15 The magnitude of this problem is expected to grow commensurate with the exponential rise in the use of targeted therapies which have demonstrated markedly improved survivals for virtually all malignant tumors. Additionally, the increased availability of advanced diagnostic imaging such as magnetic resonance imaging and 18-FDG PET scans will also serve to increase detection of spine metastatic disease. Despite extended survivals conveyed by biologics and checkpoint inhibitors, the treatment goals for patients with spine metastases remain palliative and focused on the preservation or restoration of neurological function and spinal stability, improved pain control and health related quality of life (HRQOL), and durable tumor control. Scoring systems such as the Tomita score6 and Tokuhashi revised score7 historically have been used to estimate survival and dictate treatment but increasingly have become obsolete due to their inability to incorporate and account for advances in all domains of cancer treatment.(AU)
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Humanos , Masculino , Feminino , Medula Espinal , Neoplasias da Medula Espinal/tratamento farmacológico , Metástase Neoplásica/terapia , Radiocirurgia , Neoplasias/tratamento farmacológico , Traumatologia , Procedimentos Ortopédicos , OrtopediaRESUMO
Los paradigmas de tratamiento para pacientes con metástasis de columna vertebral han evolucionado significativamente en las últimas dos décadas. El cambio más transformador de estos paradigmas ha sido la integración de la radiocirugía estereotáctica espinal (sSRS). La sSRS permite la administración de dosis de radiación lítica con preservación de los órganos cercanos en riesgo, particularmente la médula espinal. La evidencia apoya la seguridad y la eficacia de la radiocirugía, ya que actualmente ofrece un control tumoral local duradero con bajas tasas de complicaciones, incluso para tumores que anteriormente se consideraban radiorresistentes a la radioterapia convencional de haz externo. El papel de la intervención quirúrgica sigue siendo consistente, pero se ha observado una tendencia hacia técnicas menos agresivas, a menudo mínimamente invasivas. Utilizando tecnologías modernas e instrumentación mejorada, los resultados quirúrgicos continúan mejorando con una morbilidad reducida. Además, los agentes dirigidos, como los productos biológicos y los inhibidores de puntos de control, han revolucionado la atención del cáncer al mejorar tanto el control local como la supervivencia del paciente. Estos avances han dado lugar a la necesidad de nuevas herramientas de pronóstico y a una revisión más crítica de los resultados a largo plazo. La naturaleza compleja de los esquemas de tratamiento actuales requiere un enfoque multidisciplinario que incluya cirujanos, oncólogos médicos, oncólogos radioterápicos, intervencionistas y especialistas en dolor. Esta revisión recapitula los datos actuales basados en la evidencia sobre el tratamiento de las metástasis espinales e integra estos datos en un marco de decisión, NOMS, que se basa en cuatro pilares centinela de la toma de decisiones en tumores metastásicos de la columna vertebral: estado neurológico, comportamiento oncológico del tumor, estabilidad mecánica, y carga sistémica de la enfermedad y comorbilidades médicas.(AU)
Spinal metastases are a common oncologic challenge as 2040% of cancer patients are affected during the course of their illness and up to 20% of those will become symptomatic from spinal cord compression.15 The magnitude of this problem is expected to grow commensurate with the exponential rise in the use of targeted therapies which have demonstrated markedly improved survivals for virtually all malignant tumors. Additionally, the increased availability of advanced diagnostic imaging such as magnetic resonance imaging and 18-FDG PET scans will also serve to increase detection of spine metastatic disease. Despite extended survivals conveyed by biologics and checkpoint inhibitors, the treatment goals for patients with spine metastases remain palliative and focused on the preservation or restoration of neurological function and spinal stability, improved pain control and health related quality of life (HRQOL), and durable tumor control. Scoring systems such as the Tomita score6 and Tokuhashi revised score7 historically have been used to estimate survival and dictate treatment but increasingly have become obsolete due to their inability to incorporate and account for advances in all domains of cancer treatment.(AU)
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Humanos , Medula Espinal , Neoplasias da Medula Espinal/tratamento farmacológico , Metástase Neoplásica/terapia , Radiocirurgia , Neoplasias/tratamento farmacológico , Traumatologia , Procedimentos Ortopédicos , OrtopediaRESUMO
Treatment paradigms for patients with spine metastases have evolved significantly over the past two decades. The most transformative change to these paradigms has been the integration of spinal stereotactic radiosurgery (sSRS). sSRS allows for the delivery of tumoricidal radiation doses with sparing of nearby organs at risk, particularly the spinal cord. Evidence supports the safety and efficacy of radiosurgery as it currently offers durable local tumor control with low complication rates even for tumors previously considered radioresistant to conventional external beam radiation therapy. The role for surgical intervention remains consistent, but a trend has been observed toward less aggressive, often minimally invasive techniques. Using modern technologies and improved instrumentation, surgical outcomes continue to improve with reduced morbidity. Additionally, targeted agents such as biologics and checkpoint inhibitors have revolutionized cancer care by improving both local control and patient survival. These advances have brought forth a need for new prognostication tools and a more critical review of long-term outcomes. The complex nature of current treatment schemes necessitates a multidisciplinary approach including surgeons, medical oncologists, radiation oncologists, interventionalists and pain specialists. This review recapitulates the current state-of-the-art, evidence-based data on the treatment of spinal metastases and integrates these data into a decision framework, NOMS, which is based on four sentinel pillars of decision making in metastatic spine tumors: neurological status, Oocologic tumor behavior, mechanical stability and systemic disease burden and medical co-morbidities.
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Treatment paradigms for patients with spine metastases have evolved significantly over the past two decades. The most transformative change to these paradigms has been the integration of spinal stereotactic radiosurgery (sSRS). sSRS allows for the delivery of tumoricidal radiation doses with sparing of nearby organs at risk, particularly the spinal cord. Evidence supports the safety and efficacy of radiosurgery as it currently offers durable local tumor control with low complication rates even for tumors previously considered radioresistant to conventional external beam radiation therapy. The role for surgical intervention remains consistent, but a trend has been observed toward less aggressive, often minimally invasive techniques. Using modern technologies and improved instrumentation, surgical outcomes continue to improve with reduced morbidity. Additionally, targeted agents such as biologics and checkpoint inhibitors have revolutionized cancer care by improving both local control and patient survival. These advances have brought forth a need for new prognostication tools and a more critical review of long-term outcomes. The complex nature of current treatment schemes necessitates a multidisciplinary approach including surgeons, medical oncologists, radiation oncologists, interventionalists and pain specialists. This review recapitulates the current state-of-the-art, evidence-based data on the treatment of spinal metastases and integrates these data into a decision framework, NOMS, which is based on four sentinel pillars of decision making in metastatic spine tumors: Neurological status, Oncologic tumor behavior, Mechanical stability, and Systemic disease burden and medical co-morbidities.
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Spine metastases are a significant source of morbidity in oncology. Treatment of these spine metastases largely remains palliative, but advances over the past 50 years have improved the effectiveness of interventions for preserving functional status and obtaining local control while minimizing morbidity. While the field began with conventional external beam radiation as the primary treatment modality, a series of paradigm shifts and technological advances in the 2000s led to a change in treatment patterns. These advances allowed for an increased role of surgical decompression of neural elements, a shift in the stereotactic capabilities of radiation oncologists, and an improved understanding of the radiobiology of metastatic disease. The result was improved local control while minimizing treatment morbidity. These advances fit within the larger framework of metastatic spine tumor management known as the Neurologic, Oncologic, Mechanical, and Systemic disease decision framework. This dynamic framework takes into account the neurological function of the patient, the radiobiology of their tumor, their degree of mechanical instability, and their systemic disease control and treatment options to help determine appropriate interventions based on the individual patient. Herein, we describe the 50-year evolution of metastatic spine tumor management and the impact of various advances on the field.
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Radiocirurgia , Neoplasias da Coluna Vertebral , Terapia Combinada , Descompressão Cirúrgica , Gerenciamento Clínico , Humanos , Neoplasias da Coluna Vertebral/patologiaRESUMO
The successful implementation of pharmacogenetics (PGx) into clinical practice requires patient genomic data to be shared between stakeholders in multiple settings. This creates a number of barriers to widespread adoption of PGx, including privacy concerns related to the storage and movement of identifiable genomic data. Informatic solutions that support secure and equitable data access for genomic data are therefore important to PGx. Here we propose a methodology that uses smart contracts implemented on a blockchain-based framework, PGxChain, to address this issue. The design requirements for PGxChain were identified through a systematic literature review, identifying technical challenges and barriers impeding the clinical implementation of pharmacogenomics. These requirements included security and privacy, accessibility, interoperability, traceability and legal compliance. A proof-of-concept implementation based on Ethereum was then developed that met the design requirements. PGxChain's performance was examined using Hyperledger Caliper for latency, throughput, and transaction success rate. The findings clearly indicate that blockchain technology offers considerable potential to advance pharmacogenetic data sharing, particularly with regard to PGx data security and privacy, large-scale accessibility of PGx data, PGx data interoperability between multiple health care providers and compliance with data-sharing laws and regulations.
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Blockchain , Humanos , Farmacogenética , Segurança Computacional , Disseminação de Informação , Testes FarmacogenômicosAssuntos
Teste para COVID-19 , COVID-19/diagnóstico , COVID-19/prevenção & controle , Infecção Hospitalar/diagnóstico , Infecção Hospitalar/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/prevenção & controle , Testes Imediatos , Humanos , Pandemias , Pneumonia Viral/virologia , SARS-CoV-2RESUMO
The adoption of computer systems for gathering, managing, and analyzing health data is resulting in the replacement of pen-and-paper methods for collecting data and managing health records by computerized methods. One classic "pen-and-paper" assessment in health and substance use research is the Timeline Follow-Back (TLFB), the gold standard in self-reported substance use developed in 1996 by Sobell et al. to assess alcohol consumption patterns and later other substances such as marijuana or tobacco over discreet timeframes [1-7]. The TLFB has been modified by some research groups for use as a web-based assessment [8-10], but not without significant limitations. As such, this paper describes the team-oriented, interdisciplinary process by which a new online TLFB (O-TLFB) was conceptualized, the technical details of development towards a dynamic data capture tool fully integrated with REDCap via application programming interface (API), and the potential for this optimized O-TLFB to be leveraged broadly across the domains of substance use, health, and behavioral research.
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Internet , Transtornos Relacionados ao Uso de Substâncias/diagnóstico , Integração de Sistemas , Coleta de Dados/métodos , Humanos , Reprodutibilidade dos TestesRESUMO
OBJECTIVE: Deep-seated brain tumors are often best treated by primary surgical excision. Traditional microsurgical techniques can cause retraction injury and require extensive brain dissection. To mitigate this risk, stereotactic-guided tubular retractors were developed; however, the risk of shear injury remains. We created a stereotactic-guided dilatable port system to create a corridor for deep brain tumor surgery along the trajectory of a brain needle to minimize iatrogenic brain injury. METHODS: Of the 8 included patients (6 colloid cysts, 1 metastasis, 1 intraventricular meningioma), 5 had undergone frameless and 3 frame-based stereotactic targeting. We used a tans-sulcal trajectory and a 2.6-mm stereotactic needle. At the target depth, the cannula was removed and the balloon inflated to 14 mm. The balloon was deflated and removed before placing the port. Pre- and 3-month postoperative magnetic resonance imaging scans were used to measure the T2-weighted signal change and residual cannulation defect. These patients were compared with a case-matched standard endoscopic port surgery cohort. RESULTS: All patients had undergone total lesional resection without new neurologic deficits. Patients undergoing dilatable endoscopic port surgery (DEPS) had significantly smaller residual cannulation defects (P < 0.05) but no significant differences in postoperative T2-weighted signal changes or diffusion restriction volumes at 3 months postoperatively (P > 0.05). CONCLUSIONS: DEPS might be a safe alternative to standard endoscopic port surgery or microsurgery for deep-seated brain tumors. The degree of iatrogenic injury using DEPS, as determined by magnetic resonance imaging analysis, might be equivalent to or less than that with standard port surgery techniques, although larger sample sizes are needed for validation.
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Lesões Encefálicas/cirurgia , Neoplasias Encefálicas/cirurgia , Cistos Coloides/cirurgia , Meningioma/cirurgia , Adulto , Idoso , Encéfalo/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Neoplasias Meníngeas/cirurgia , Microcirurgia/métodos , Pessoa de Meia-Idade , Neuroendoscopia/métodosAssuntos
Proteínas de Ciclo Celular/genética , Predisposição Genética para Doença , Disgenesia Gonadal 46 XX/genética , Perda Auditiva Neurossensorial/genética , Nefropatias/genética , Feminino , Disgenesia Gonadal 46 XX/complicações , Disgenesia Gonadal 46 XX/patologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/patologia , Humanos , Nefropatias/complicações , Nefropatias/patologia , Mitocôndrias/genética , Sequenciamento do ExomaAssuntos
Dacarbazina , Glioblastoma , Neoplasias Encefálicas , Dacarbazina/análogos & derivados , Glioma , Humanos , Imunoterapia , TemozolomidaRESUMO
Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency in 46, XX karyotype females. Biallelic variants in five genes are reported to be causative: HSD17B4, HARS2, LARS2, CLPP and C10orf2. Here we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2, CLPP and C10orf2. The proband from each family was whole exome sequenced and variants confirmed by Sanger sequencing. A female was compound heterozygous for a known, p.(Gly16Ser) and novel, p.(Val82Phe) variant in D-bifunctional protein (HSD17B4). A family was homozygous for mitochondrial leucyl aminocyl tRNA synthetase (mtLeuRS) (LARS2) p.(Thr522Asn), previously associated with Perrault syndrome. A further family was compound heterozygous for mtLeuRS, p.(Thr522Asn) and a novel variant, p.(Met117Ile). Affected individuals with LARS2 variants had low frequency SNHL, a feature previously described in Perrault syndrome. A female with significant neurological disability was compound heterozygous for p.(Arg323Gln) and p.(Asn399Ser) variants in Twinkle (C10orf2). A male was homozygous for a novel variant in CLPP, p.(Cys144Arg). In three families there were no putative pathogenic variants in these genes confirming additional disease-causing genes remain unidentified. We have expanded the spectrum of disease-causing variants associated with Perrault syndrome.
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Aminoacil-tRNA Sintetases/genética , DNA Helicases/genética , Endopeptidase Clp/genética , Disgenesia Gonadal 46 XX/genética , Perda Auditiva Neurossensorial/genética , Proteínas Mitocondriais/genética , Proteína Multifuncional do Peroxissomo-2/genética , Exoma/genética , Feminino , Genótipo , Disgenesia Gonadal 46 XX/patologia , Perda Auditiva Neurossensorial/patologia , Homozigoto , Humanos , Masculino , Mutação , Linhagem , Fenótipo , Insuficiência Ovariana Primária/genética , Insuficiência Ovariana Primária/fisiopatologiaAssuntos
Exodesoxirribonucleases/genética , Dedos/irrigação sanguínea , Isquemia/etiologia , Fosfoproteínas/genética , Esclerodermia Limitada/genética , Dedos do Pé/irrigação sanguínea , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Pessoa de Meia-Idade , Esclerodermia Limitada/complicações , Adulto JovemRESUMO
Increasingly, mitochondria are being recognized as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be underreported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation. Studies on populations with genetically uncharacterized infertility have highlighted an association with mitochondrial DNA deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility.
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DNA Polimerase Dirigida por DNA/genética , Infertilidade Feminina/genética , Infertilidade Masculina/genética , Mitocôndrias/genética , DNA Polimerase gama , Feminino , Humanos , Infertilidade Feminina/patologia , Infertilidade Masculina/patologia , Masculino , Oócitos/metabolismo , Oócitos/patologia , Técnicas de Reprodução Assistida , Espermatozoides/metabolismo , Espermatozoides/patologiaRESUMO
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome sequencing (WES) was completed on four affected members of a large family, and variants and co-segregation was confirmed by Sanger sequencing. All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness. The PS proband is also homozygous for a frameshift variant (c.1453_1454delGA, p.(Glu485Lysfs*5)) in exon 7 of SGO2 encoding shugoshin 2, which is the likely cause of her concurrent ovarian insufficiency. In mouse, Sgol2a encoding shugoshin-like 2a is necessary during meiosis in both sexes to maintain the integrity of the cohesin complex that tethers sister chromatids. Human SGO2 has not previously been implicated in any disorder, but in this case of POI and perhaps others, it is a candidate for unexplained infertility.