Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed.

The Accreditation Council for Graduate Medical Education 20-Year Trends in Diversity, Equity, and Inclusion in the United States: How Does Neurological Surgery Compare?

BACKGROUND: Within the current medical workforce, diversity is limited among surgical specialties. However, diversity allows physicians to provide culturally competent care. This paper discusses the trends in racial, ethnic, and gender representation within different surgical subspecialties with an emphasis on neurosurgery over a 20-year time frame. METHODS: A retrospective review of data collected by the Accreditation Council for Graduate Medical Education over the past twenty years, as reported in Journal of the American Medical Association, was conducted. Residents from 5 surgical specialties were evaluated based on gender, race, and ethnic identifications from 2002 to 2022. One-way analysis of variance was performed to compare the levels and retention rates of racial, ethnic, and gender diversity within these specialties. RESULTS: Analysis of resident demographics of the 5 surgical specialties reveals an overall trend of increasing diversity over the study period. Over the past 20 years, neurosurgery had an overall increase in Asian (+5.1%), Hispanic (+3.0%), and female (+11.4%) residents, with a decrease in White residents by 2.1% and Black residents by 1.1%. Among the surgical specialties analyzed, otolaryngology had the greatest overall increase in minority residents. Notably, there has been an overall increase in female residents across all 5 surgical specialties, with the highest in otolaryngology (+20.3%) which was significantly more than neurosurgery (P < 0.001). CONCLUSIONS: This chronological analysis spanning 20 years demonstrates that neurosurgery, like other specialties, has seen a growth in several racial and ethnic categories. Relative differences are notable in neurosurgery, including Black, Asian, Hispanic, and White ethnic categories, with growth in females, but at a significantly lesser pace than seen in otolaryngology and plastic surgery.

Utilization of Locum Tenens in Neurosurgery.

INTRODUCTION: Despite its rising popularity, little has been described about locum tenens employment (locums) in neurosurgery. This study provides the first nationwide overview of the locums neurosurgery experience. METHODS: An anonymous online survey examined practice characteristics of respondents, extent of and satisfaction with locums, motivations for pursuing locums, case volumes, agencies used, compensation, and positive/negative aspects of experiences. Responses were collected between November 2020 and February 2021. RESULTS: Response rate for the 1852 neurosurgeons who opened the survey request was 4.9%; 36 of 91 respondents had previously worked locums and were commonly motivated by compensation or transitioning to new jobs or retirement. In our response group, 92% of locums respondents had taken more than one position and 47% had taken more than 10. Neurosurgeons performing <200 cases/year were significantly more likely to have also worked locums than those performing >200 cases/year (41.6% locums, 12.7% non-locums, P = 0.001). Responses showed that 69% of locums respondents earned $2000-$2999/day and 16% earned >$3500/day. Nearly 78% of locums respondents were satisfied with their experience(s) and 86% would take another future locums position. Being in practice for >15 years was significantly associated with satisfaction with locums (P = 0.03). Reported flaws included unfamiliarity with hospitals, limited continuity of care, credentialing burdens, and inadequate travel compensation. CONCLUSIONS: Locums is utilized by neurosurgeons across multiple practice types and may serve to complement workloads or "fill in gaps" between longer-term employment. Overall, locums neurosurgeons are well compensated, and the majority are satisfied with their experience(s). Inevitably, flaws still exist with locums employment, which may be the focus of organized efforts aiming to improve the experience.

Moya moya vasculopathy and MECP2 duplication syndrome.

BACKGROUND: Moya moya type vasculopathy (MMV) is a rare disorder in which there is narrowing of bilateral intracranial carotid arteries (Scott and Smith in New Engl J Med 360(12):1226-1237, 2009). MECP2 duplication syndrome (MDS) is a rare genetic disorder that is caused by genetic duplications on Xq28 chromosome (Expanding the clinical picture of the MECP2 duplication syndrome. (Lim et al. in Clin Genet 91(4):557-563, 2017). Both disorders are rare and have not been described together in association. CASE PRESENTATION: Interestingly, we present a child with both MDS and MMV. Upon genetic testing, there was found to be a large, de novo duplication sequence in the patient's genome. Possible correlation between our patient's extensive genetic mutation and MMV has been evaluated. CONCLUSION: Our literature search disclosed no other known patients with both MDS and MMV. Patients with MDS should be monitored carefully for signs or symptoms of vasculopathy.

The landscape of current research on pediatric diffuse midline glioma: a quantitative analysis of shifts, leaders, and future avenues.

PURPOSE: Diffuse midline glioma (DMG) has seen a surge of research interest in recent years with the growth in knowledge of new avenues for potential treatments. However, no bibliometric review of the field has been conducted to visualize the current state of the field. Here, we use bibliometric mapping to visualize the knowledge structure, collaborations, and trends in the field. METHODS: A total of 1079 original and review articles from 1996 to 2023 on diffuse midline glioma were extracted from the Web of Science Core Collection on June 3, 2023. These files were analyzed with R and VOSviewer to construct bibliometric visualizations. RESULTS: Research interest in DMG has continued to grow, driven by publications of original research. Molecular characterization of DMG has been a key focus of recent literature, and terms relating to novel small molecules, mutations, immunotherapy, the blood-brain barrier, and liquid biopsy may be areas for future growth in the literature. Collaborating nations have generally been the North American and European nations, but other nations have begun to make their mark in the field. Leading and rising institutions and journals are described. CONCLUSION: Research in DMG may continue to focus on molecular characterization and new therapeutics based on this knowledge. Novel collaborations between rising nations and institutions in the field may aid in accelerating this research.

Biopsy of diffuse midline glioma is safe and impacts targeted therapy: a systematic review and meta-analysis.

PURPOSE: To quantify the safety and utility of biopsy of pediatric diffuse midline glioma (DMG). METHODS: This study was conducted in accordance with PRISMA guidelines. PubMed, Embase, Scopus, and Web of Science were queried for relevant articles from inception until June 2023. Two reviewers identified all articles that included diagnostic yield, morbidity, and mortality rates for pediatric DMG patients. Studies that did not present original data or were not in English or peer-reviewed were excluded. Meta-analysis was conducted in R using Freeman-Tukey or logit transformation and DerSimonian-Laird random-effects models. The risk of bias was assessed using the Newcastle-Ottawa Scale. A protocol for this review was not registered. RESULTS: We identified 381 patients from ten studies that met all criteria. DMG biopsy is safe overall (0% mortality, 95% CI: 0-0.6%; 11.0% morbidity, 95% CI: 4.8-18.9%) and has a high diagnostic yield (99.9%, 95% CI: 98.5-100%). The use of stereotactic biopsy is a significant moderator of morbidity (p = 0.0238). Molecular targets can be identified in approximately 53.4% of tumors (95% CI: 37.0-69.0%), although targeted therapies are only delivered in about 33.5% of all cases (95% CI: 24.4-44.1%). Heterogeneity was high for morbidity and identification of targets. The risk of bias was low for all studies. CONCLUSION: We conducted the first meta-analysis of DMG biopsy to show that it is safe, effective, and able to identify relevant molecular targets that impact targeted therapy.

Congenital unilateral lower lip palsy: a case-based review.

BACKGROUND: Congenital unilateral lower lip palsy (CULLP), also referred to as congenital asymmetric crying facies (ACF), is a rare condition that causes pronounced depression of the unaffected lower lip when crying, despite symmetric appearance of the mouth and lips at rest. Unlike the acquired form of ACF, CULLP is idiopathic and often involves permanent defect. METHODS AND RESULTS: We present a case-based review of CULLP, including a thorough analysis of the relevant literature and a discussion of the exemplary case of 5-year-old patient presenting with unilateral facial asymmetry resulting from left-sided facial weakness. The patient was diagnosed with ACF at birth, and documentation from a previous neurologic consultation specifies the root cause of the asymmetry as developmental aplasia of the left depressor anguli oris muscle (DAOM). However, there is no record of electrodiagnostic testing or B-scan ultrasound imaging that would support this conclusion, and the patient's dysarthric speech may suggest lower motor neuron involvement. Botox chemodenervation of the right, unaffected side was recommended to deanimate the contralateral lower lip and achieve facial symmetry, in addition to potentially resolving some of the patient's speech difficulties. CONCLUSIONS: There are several approaches, both surgical and non-surgical, to the management and correction of CULLP. These include weakening the muscles of the contralateral side or increasing muscular tension on the ipsilateral side, referred to as deanimation and reanimation procedures, respectively.

Telehealth in Neurosurgery: 2021 Council of State Neurosurgical Societies National Survey Results.

OBJECTIVE: Telehealth was rapidly adopted during the COVID-19 pandemic. A survey was distributed to neurosurgeons in the United States (U.S.) to understand its use within neurosurgery, what barriers exist, unique issues related to neurosurgery, and opportunities for improvement. METHODS: A survey was distributed via email and used the SurveyMonkey platform. The survey was sent to 3828 practicing neurosurgeons within the U.S., 404 responses were collected between October 30, 2021 and December 4, 2021. RESULTS: During the pandemic, telehealth was used multiple times per week by 60.65% and used daily by an additional 12.78% of respondents. A supermajority (89.84%) of respondents felt that evaluating patients across state lines with telemedicine is beneficial. Most respondents (95.81%) believed that telehealth improves patient access to care. The major criticism of telehealth was the inability to perform a neurological exam. CONCLUSIONS: Telehealth has been widely implemented within the field of neurosurgery during the COVID-19 pandemic and has increased access to care. It has allowed patients to be evaluated remotely, including across state lines. While certain aspects of the neurological exam are suited for video evaluation, sensation and reflexes cannot be adequately assessed. Neurosurgeons believe that telehealth adds value to their ability to deliver care.

Mechanisms of Peer Review and Their Potential Impact on Neurosurgeons: A Pilot Survey.

BACKGROUND: Physician peer review is a universal practice in U.S. hospitals. While there are many commonalities in peer review procedures, many of them established by law, there is also much institutional variation, which should be well understood by practicing neurosurgeons. METHODS: A 13-question pilot survey was conducted of a sample of 5 hospital systems with whom members of the Council of State Neurosurgical Societies Medico-Legal Committee are affiliated. Survey questions were constructed to qualitatively assess 3 features of hospital peer review: 1) committee composition and process, 2) committee outcomes, and 3) legal protections and ramifications. RESULTS: The most common paradigm for a physician peer review committee was an interdisciplinary group with representatives from most major medical and surgical subspecialties. Referrals for peer review inquiry could be made by any hospital employee and were largely anonymous. Most institutions included a precommittee screening process conducted by the physician peer review committee leadership. The most common outcomes of an inquiry were resolution with no further action or ongoing focused professional practice evaluation. Hospital privileges were only rarely reported to be revoked or terminated. Members of the physician peer review committee were consistently protected from retaliatory litigation related to peer review participation. Most hospitals had a multilayered decision process and availability of appeal to minimize potential for punitive investigations. CONCLUSIONS: According to a recent study, only 62% of hospitals consider their peer review process to be highly or significantly standardized. This pilot survey provides commentary of potential areas of commonality and variation among hospital peer review practices.

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review.

OBJECTIVE: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. METHODS: A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. RESULTS: A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. CONCLUSIONS: Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.

Trends in Racial and Ethnic Representation Among Neurosurgery Applicants and Residents: A Comparative Analysis of Procedural Specialties.

BACKGROUND: Diversity, equity, and inclusion within the healthcare workforce are conducive to providing culturally competent care. However, few existing studies have assessed the level of racial and ethnic diversity among resident physicians and residency applicants. Our objective was to provide a comparative analysis of the trends in racial and ethnic representation within different subspecialties in medicine. METHODS: Using data from the American Association of Medical Colleges and the Journal of the American Medical Association, we evaluated the racial and ethnic identification of residency applicants and current residents in 9 procedural-focused specialties from 2005 to 2019 and performed a descriptive analysis to compare the different levels of racial and ethnic diversity in these specialties. RESULTS: Among the specialties analyzed during the study period, neurosurgery had the greatest magnitude of differences between Black/African-American residency applicants and current residents. The percentage of Black/African-American applicants was 92% greater than that of Black/African-American residents (10% of applicants vs. 5.2% of residents). In contrast, the percentage of White neurosurgery residents was 17.6% greater than that of White neurosurgery applicants (53.9% of applicants vs. 63.4% of residents). Similar trends were noted in all the specialties evaluated. Obstetrics and gynecology demonstrated the least disparity between Black/African-American applicants and residents (13.7% of applicants vs. 10.2% of residents; 35.4% difference). Hispanic and Asian representation varied widely between specialties. CONCLUSIONS: Among the surveyed specialties, neurosurgery demonstrated the greatest disparity between the percentage of Black/African-American residency applicants and current residents. To further drive progress in this domain, we advocate for a series of initiatives designed to increase underrepresented minority participation in neurosurgery practice and scholarship.

Sales Representatives in the Operating Room: Conflict of Interest or Clinical Support?

BACKGROUND: The Physician Payment Sunshine Act, which became federal law in January 2012, mandated that medical device manufacturers must disclose any financial support provided to individual physicians on a publicly available Web site. The law reflects increasing concern about physician-industry relationships. METHODS: The connection between surgeon and sales representative creates possibilities for both financial and non-financial conflicts of interest (COIs). Indeed, COIs may be inherent when a sales representative is motivated by profit while also serving a critical role in many surgeries. RESULTS: The potential benefits and risks for patients, who may not even be aware of the sales representative's presence in the operating room, must be considered. CONCLUSIONS: This paper adds to the national discussion about neurosurgical physician-industry conflicts of interests and the issues relative to sales representatives in the operating room.

"There's got to be a better way": Global Perspectives of Medicolegal Environment and Neurosurgical Socioeconomics.

Neurosurgery is considered to have one of the greatest risks of medical malpractice claims. However, medicolegal issues in neurosurgery are often disregarded and underrated worldwide. Medical errors in the neurosurgical field can be attributed to multiple factors, including highly morbid pathologies, the technical difficulty of neurosurgical procedures, and the involvement and interaction of a multidisciplinary team in the care of neurosurgical patients. Health care providers worldwide are at risk of lawsuits, sometimes even when no deviation from the standard of care had occurred in a given case. Often, governments use additional tactics to decrease the burden on compensators and extrajudicial institutions and to decrease the court's flow of irrational litigation. Continuous amendments to health care acts and newer reforms to address these issues have materialized worldwide. In the present narrative review, we have reviewed the global perspectives of medicolegal issues, with a focus on neurosurgical discipline.

The Medical Legal Environment in Neurosurgery: An Informative Overview of the Stages of Litigation and Distinct Challenges.

Medical malpractice litigation is something that every neurosurgeon encounters in his or her career and causes significant strife to amateur physicians attempting to navigate the medicolegal process. Neurosurgery in particular is one of the highest risk specialties for litigation. This calls to order the importance of a clear understanding of the medicolegal proceedings that may follow after a complaint has been filed. This report describes the steps to be taken by the physician in the instance that litigation is expected or considered a possibility. We describe the elements that comprise a medical malpractice claim, details of the lawsuit process including hospital peer review and expert witness selection, and how to communicate appropriately with the patients and their families in an empathetic way. It is imperative to gain an appropriate understanding of the entirety of the malpractice claim process to ease the anxiety of litigation for the physician and decrease the amount of avoidable complications.

The Financial Impact of the COVID-19 Pandemic on Neurosurgery Practice in Spring 2020.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has changed health care delivery across the United States. Few analyses have specifically looked at quantifying the financial impact of the pandemic on practicing neurosurgeons. A survey analysis was performed to address this need. METHODS: A 19-question survey was distributed to practicing neurosurgeons in the United States and its territories. The questions evaluated respondents' assessments of changes in patient and procedural volume, salary and benefits, practice expenses, staffing, applications for government assistance, and stroke management. Responses were stratified by geographic region. RESULTS: The response rate was 5.1% (267/5224). Most respondents from each region noted a >50% decrease in clinic volume. Respondents from the Northeast observed a 76% decrease in procedure volume, which was significantly greater than that of other regions (P = 0.003). Northeast respondents were also significantly more likely to have been reassigned to nonneurosurgical clinical duties during the pandemic (P < 0.001). Most respondents also noted decreased salary and benefits but experienced no changes in overall practice expenses. Most respondents did not experience significant reductions in nursing or midlevel staffing. These trends were not significantly different between regions. CONCLUSIONS: The COVID-19 pandemic has led to decreases in patient and procedural volume and physician compensation despite stable practice expenses. Significantly more respondents in the Northeast region noted decreases in procedural volume and reassignment to nonneurosurgical COVID-related medical duties. Future analysis is necessary as the pandemic evolves and the long-term clinical and economic implications become clear.

Spinal arteriovenous malformation in a pediatric patient with a history of congenital syphilis: a case report.

BACKGROUND: Spinal arteriovenous malformations in children are extremely rare and pose great risk for intraoperative hemorrhage. Congenital syphilis sometimes presents with vascular symptoms, however, there is little published on patients with a history of congenital syphilis presenting with spinal arteriovenous malformations. CASE PRESENTATION: A 15-month-old female with a history of congenital syphilis presented with urinary retention, fever, and subacute onset of paraplegia. MRI showed a lesion at T8-L1, angiogram was performed which confirmed the presence of a complex type IVc arteriovenous malformation and fistula from Artery of Adamkiewicz at L1-L2. It also showed peri medullary dilated veins and a pseudoaneurysm that compressed the spinal cord at T8-T10. Somatosensory evoked potentials and motor-evoked potentials were not recordable on the bilateral lower extremities prior to surgery. Once the patient was optimized for surgery, osteoplastic laminotomies from T6-T12 were performed. The dura was opened and the intradural, intramesenchymal hematoma was evacuated. There were two episodes of brisk arterial bleeding with hypotension during resection of the hematoma. The patient was taken to the angiography suite from the OR to successfully coil the large aneurysm. Intraoperative spinal cord monitoring remained undetectable in the bilateral lower extremities. The patient's paraplegia remained unchanged from preoperative presentation. CONCLUSION: Congenital syphilis may present with vascular changes that might impact surgical approaches and treatment outcomes in patients with spinal arteriovenous malformations. Preparation for massive transfusion and intraoperative monitoring are imperative in ensuring a safe perioperative experience.