Publications by authors named "Daniel F Broderick"

34 Publications

Focused versus conventional radiotherapy in spinal oncology: is there any difference in fusion rates and pseudoarthrosis?

J Neurooncol 2022 Jan 7. Epub 2022 Jan 7.

Department of Neurosurgery, Mayo Clinic, Jacksonville, FL, 32224, USA.

Introduction: Radiotherapy is considered standard of care for adjuvant peri-operative treatment of many spinal tumors, including those with instrumented fusion. Unfortunately, radiation treatment has been linked to increased risk of pseudoarthrosis. Newer focused radiotherapy strategies with enhanced conformality could offer improved fusion rates for these patients, but this has not been confirmed.

Methods: We performed a retrospective analysis of patients at three tertiary care academic institutions with primary and secondary spinal malignancies that underwent resection, instrumented fusion, and peri-operative radiotherapy. Two board certified neuro-radiologists used the Lenke fusion score to grade fusion status at 6 and 12-months after surgery. Secondary outcomes included clinical pseudoarthrosis, wound complications, the effect of radiation timing and radiobiological dose delivered, the use of photons versus protons, tumor type, tumor location, and use of autograft on fusion outcomes.

Results: After review of 1252 spinal tumor patients, there were 60 patients with at least 6 months follow-up that were included in our analyses. Twenty-five of these patients received focused radiotherapy, 20 patients received conventional radiotherapy, and 15 patients were treated with protons. There was no significant difference between the groups for covariates such as smoking status, obesity, diabetes, intraoperative use of autograft, and use of peri-operative chemotherapy. There was a significantly higher rate of fusion for patients treated with focused radiotherapy compared to those treated with conventional radiotherapy at 6-months (64.0% versus 30.0%, Odds ratio: 4.15, p = 0.036) and 12-months (80.0% versus 42.1%, OR: 5.50, p = 0.022). There was a significantly higher rate of clinical pseudoarthrosis in the conventional radiotherapy cohort compared to patients in the focused radiotherapy cohort (19.1% versus 0%, p = 0.037). There was no difference in fusion outcomes for any of the secondary outcomes except for use of autograft. The use of intra-operative autograft was associated with an improved fusion at 12-months (66.7% versus 37.5%, OR: 3.33, p = 0.043).

Conclusion: Focused radiotherapy may be associated with an improved rate of fusion and clinical pseudoarthrosis when compared to conventional radiation delivery strategies in patients with spinal tumors. Use of autograft at the time of surgery may be associated with improved 12-month fusion rates. Further large-scale prospective and randomized controlled studies are needed to better stratify the effects of radiation delivery modality in these patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11060-021-03915-3DOI Listing
January 2022

Neuroradiology in Transgender Care: Facial Feminization, Laryngeal Surgery, and Beyond.

Radiographics 2022 Jan-Feb;42(1):233-249

From the Department of Radiology, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL 32224 (J.T.S., E.H.M., D.F.B., A.A.B.); Department of Radiology and Biomedical Imaging, University of California-San Francisco, San Francisco, Calif (P.J.); and Department of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, Minn (J.M.J.).

Transgender individuals experience incongruence between their gender identity and the sex assigned to them at birth. This incongruence can cause many transgender individuals to experience distressing physical and mental discord, a diagnosis known as gender dysphoria. Craniofacial structures have distinct anthropometric characteristics that affect perceived masculinity and femininity. The face, neck, and voice are highly exposed anatomic areas that have recognizable gender-specific characteristics that may hinder a transgender individual's successful social integration and public acceptance. Reconstructive facial and laryngeal procedures are among the surgical options transgender persons may elect to undergo to better align their physical appearance with their gender identity. These include feminization surgeries such as facial feminization and reduction chondrolaryngoplasty, as well as masculinizing facial and laryngeal surgeries. Maxillofacial CT is frequently used in the preoperative evaluation of patients before facial feminization surgery (FFS). Several CT measurements guide surgeons to the optimal correction required in FFS to achieve appropriate aesthetic planes. Mapping important craniofacial landmarks to avoid untoward surgical complications is crucial. Transgender patients may encounter other neurologic complications that require neuroimaging evaluation. For example, gender-affirming hormone therapy (eg, estrogen and testosterone) may increase the risk of stroke or may influence growth of various hormone-sensitive tumors such as pituitary adenomas. Radiologists may interpret imaging examinations in transgender patients for routine care or for evaluation before and after facial and laryngeal surgeries and must be aware of the role of neuroimaging in the care of this population. RSNA, 2022.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1148/rg.210080DOI Listing
January 2022

Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.

Mov Disord 2021 Dec 30;36(12):2901-2909. Epub 2021 Jul 30.

Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.

Background: Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressive neurodegenerative disease for which there is currently no cure. Hematopoietic stem cell transplantation (HSCT) has been proposed as a disease-modifying treatment.

Objective: The objective of this study was to determine the effect of HSCT on disease progression.

Methods: We collected all available clinical data from a cohort of 7 patients with CSF1R-related leukoencephalopathy who underwent HSCT at our institutions. Clinical data included detailed neurological examination by a board-certified neurologist, serial cognitive screens, formal neuropsychological evaluations, and serial brain magnetic resonance imaging (MRI).

Results: Our patients had an average disease duration of 27.6 months at the time of transplant, and we have 87 months of total posttransplant follow-up time (median, 11; range, 2-27). One patient died in the periprocedural period. The remaining patients showed a variable response to treatment, with 6 of 7 patients trending toward stabilization on motor examination, cognitive scores, and/or MRI abnormalities, especially with white matter lesion burden.

Conclusions: This is the largest series of patients with CSF1R-related leukoencephalopathy receiving HSCT. We conclude that HSCT can stabilize the disease in some patients. Variability in patient responsiveness suggests that measures of disease heterogeneity and severity need to be considered when evaluating a patient's candidacy for transplant. HSCT appears to be the first disease-modifying therapy for CSF1R-related leukoencephalopathy. This milestone may serve as a foothold toward better understanding the disease's pathomechanism, thus providing new opportunities for better disease-specific therapies. © 2021 International Parkinson and Movement Disorder Society.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.28734DOI Listing
December 2021

Brain calcification in a CSF1R mutation carrier precedes white matter degeneration.

Mov Disord 2017 10 26;32(10):1493-1495. Epub 2017 Aug 26.

Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27130DOI Listing
October 2017

ACR Appropriateness Criteria Cerebrovascular Disease.

J Am Coll Radiol 2017 May;14(5S):S34-S61

Panel Chair, Emory University, Atlanta, Georgia.

Diseases of the cerebral vasculature represent a heterogeneous group of ischemic and hemorrhagic etiologies, which often manifest clinically as an acute neurologic deficit also known as stroke or less commonly with symptoms such as headache or seizures. Stroke is the fourth leading cause of death and is a leading cause of serious long-term disability in the United States. Eighty-seven percent of strokes are ischemic, 10% are due to intracerebral hemorrhage, and 3% are secondary to subarachnoid hemorrhage. The past two decades have seen significant developments in the screening, diagnosis, and treatment of ischemic and hemorrhagic causes of stroke with advancements in CT and MRI technology and novel treatment devices and techniques. Multiple different imaging modalities can be used in the evaluation of cerebrovascular disease. The different imaging modalities all have their own niches and their own advantages and disadvantages in the evaluation of cerebrovascular disease. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2017.01.051DOI Listing
May 2017

Cerebral peduncle angle: Unreliable in differentiating progressive supranuclear palsy from other neurodegenerative diseases.

Parkinsonism Relat Disord 2016 11 11;32:31-35. Epub 2016 Aug 11.

Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

Introduction: The significant symptom overlap between progressive supranuclear palsy (PSP) and other parkinsonian neurodegenerative diseases frequently results in misdiagnosis. However, neuroimaging can be used to quantify disease-related morphological changes and specific markers. The cerebral peduncle angle (CPA) has been shown to differentiate clinically diagnosed PSP from other parkinsonian diseases but this result has yet to be confirmed in autopsy-proven disease.

Methods: Magnetic resonance imaging (MRI) scans were obtained for 168 patients representing 69 medical facilities. Following randomization, the images were divided into two groups (Type 1 and Type 2) based upon midbrain morphological differences. Two readers were blinded and independently measured the CPA of 146 patients with autopsy-proven progressive supranuclear palsy (PSP; n = 54), corticobasal degeneration (n = 16), multiple system atrophy (MSA; n = 11) and Lewy body disease (n = 65).

Results: Applying two separate measurement techniques revealed no statistically significant differences in CPA measurements among any study groups regardless of classification measurement approach. The interobserver agreement showed significant differences in measurements using the Type 2 approach.

Conclusion: Measuring the CPA on MRI is not a reliable way of differentiating among patients with PSP, corticobasal degeneration, MSA, or Lewy body disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2016.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096971PMC
November 2016

ACR Appropriateness Criteria Low Back Pain.

J Am Coll Radiol 2016 Sep 3;13(9):1069-78. Epub 2016 Aug 3.

Emory University, Atlanta, Georgia.

Most patients presenting with uncomplicated acute low back pain (LBP) and/or radiculopathy do not require imaging. Imaging is considered in those patients who have had up to 6 weeks of medical management and physical therapy that resulted in little or no improvement in their back pain. It is also considered for those patients presenting with red flags raising suspicion for serious underlying conditions, such as cauda equina syndrome, malignancy, fracture, and infection. Many imaging modalities are available to clinicians and radiologists for evaluating LBP. Application of these modalities depends largely on the working diagnosis, the urgency of the clinical problem, and comorbidities of the patient. When there is concern for fracture of the lumbar spine, multidetector CT is recommended. Those deemed to be interventional candidates, with LBP lasting for > 6 weeks having completed conservative management with persistent radiculopathic symptoms, may seek MRI. Patients with severe or progressive neurologic deficit on presentation and red flags should be evaluated with MRI. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer-reviewed journals and the application of well-established methodologies (the RAND/UCLA Appropriateness Method and the Grading of Recommendations Assessment, Development, and Evaluation) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2016.06.008DOI Listing
September 2016

Hypertrophic olivary degeneration: A clinico-radiologic study.

Parkinsonism Relat Disord 2016 07 12;28:36-40. Epub 2016 Apr 12.

Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Rd, Jacksonville, FL, 32224, USA. Electronic address:

Introduction: The frequency and causes of hypertrophic olivary degeneration (HOD) are unknown. We compared the clinical and radiological characteristics of unilateral HOD and bilateral HOD.

Methods: We performed a search of a radiologic report database for patients who were radiologically diagnosed as having HOD. This database includes the patients examined at the Mayo Clinic in Florida and Arizona. We used the search terms "hypertrophic olivary degeneration", "HOD", and "olivary" in the reports recorded from 1995 to 2015. Pertinent medical records and magnetic resonance imaging (MRI) scans of the brain for those with HOD were reviewed retrospectively.

Results: We identified 142 MRI studies on 95 cases who had radiologically proven HOD, 39 cases had unilateral HOD and 56 with bilateral HOD. In symptomatic cases, the most common symptom was ataxia. Palatal tremor was observed in almost half of all HOD cases. While cerebrovascular diseases were the most frequent etiology in both types of HOD (n = 24, 62% in unilateral; n = 17, 30% in bilateral), more than half of bilateral HOD cases had an unknown etiology (52%, n = 29), whereas only 13% (n = 5) of the unilateral cases had an unknown etiology (χ(2) test, P < 0.001). The lesions of unilateral HOD had a tendency to improve radiologically over time, whereas those associated with bilateral HOD were likely to worsen (χ(2) test, P < 0.05).

Conclusions: Our study showed that bilateral HOD is more common than unilateral HOD. Half of bilateral HOD cases had no obvious cause and some worsened over time. This may implicate a possible primary neurodegenerative process.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914441PMC
July 2016

ACR Appropriateness Criteria Imaging in the Diagnosis of Thoracic Outlet Syndrome.

J Am Coll Radiol 2015 May 29;12(5):438-43. Epub 2015 Mar 29.

Brigham and Women's Hospital, Boston, Massachusetts.

Thoracic outlet syndrome is a clinical entity characterized by compression of the neurovascular bundle, and may be associated with additional findings such as venous thrombosis, arterial stenosis, or neurologic symptoms. The goal of imaging is to localize the site of compression, the compressing structure, and the compressed organ or vessel, while excluding common mimics. A literature review is provided of current indications for diagnostic imaging, with discussion of potential limitations and benefits of the respective modalities. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 3 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. In this document, we provided guidelines for use of various imaging modalities for assessment of thoracic outlet syndrome.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2015.01.016DOI Listing
May 2015

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

Mayo Clin Proc 2015 Mar 3;90(3):366-71. Epub 2015 Feb 3.

Department of Neurology, Mayo Clinic, Jacksonville, FL. Electronic address:

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mayocp.2015.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354704PMC
March 2015

ACR Appropriateness Criteria Dementia and Movement Disorders.

J Am Coll Radiol 2015 Jan;12(1):19-28

The Johns Hopkins Medical Institution, Baltimore, Maryland.

Neurodegenerative disease, including dementia, extrapyramidal degeneration, and motor system degeneration, is a growing public health concern and is quickly becoming one of the top health care priorities of developed nations. The primary function of anatomic neuroimaging studies in evaluating patients with dementia or movement disorders is to rule out structural causes that may be reversible. Lack of sensitivity and specificity of many neuroimaging techniques applied to a variety of neurodegenerative disorders has limited the role of neuroimaging in differentiating types of neurodegenerative disorders encountered in everyday practice. Nevertheless, neuroimaging is a valuable research tool and has provided insight into the structure and function of the brain in patients with neurodegenerative disorders. Advanced imaging techniques, such as functional neuroimaging with MRI and MR spectroscopy, hold exciting investigative potential for better understanding of neurodegenerative disorders, but they are not considered routine clinical practice at this time. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 3 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2014.09.025DOI Listing
January 2015

ACR Appropriateness Criteria Headache.

J Am Coll Radiol 2014 Jul 3;11(7):657-67. Epub 2014 Jun 3.

Washington University School of Medicine, St. Louis, Missouri, American Association of Neurological Surgeons, Rolling Meadows, Illinois/Congress of Neurological Surgeons, Schaumburg, Illinois.

Most patients presenting with uncomplicated, nontraumatic, primary headache do not require imaging. When history, physical, or neurologic examination elicits "red flags" or critical features of the headache, then further investigation with imaging may be warranted to exclude a secondary cause. Imaging procedures may be diagnostically useful for patients with headaches that are: associated with trauma; new, worse, or abrupt onset; thunderclap; radiating to the neck; due to trigeminal autonomic cephalgia; persistent and positional; and temporal in older individuals. Pregnant patients, immunocompromised individuals, cancer patients, and patients with papilledema or systemic illnesses, including hypercoagulable disorders may benefit from imaging. Unlike most headaches, those associated with cough, exertion, or sexual activity usually require neuroimaging with MRI of the brain with and without contrast to exclude potentially underlying pathology before a primary headache syndrome is diagnosed. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2014.03.024DOI Listing
July 2014

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Neurogenetics 2014 Mar 18;15(1):23-30. Epub 2013 Oct 18.

Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to determine the frequency of the recently identified IBGC gene SLC20A2 in 27 IBGC cases from the Mayo Clinic Florida Brain Bank using both Sanger sequencing and TaqMan copy number analysis to cover the complete spectrum of possible mutations. We identified SLC20A2 pathogenic mutations in two of the 27 cases of IBGC (7 %). Sequencing analysis identified a p.S113* nonsense mutation in SLC20A2 in one case. TaqMan copy number analysis of SLC20A2 further revealed a genomic deletion in a second case, which was part of a large previously reported Canadian IBGC family with dystonia. Subsequent whole-genome sequencing in this family revealed a 563,256-bp genomic deletion with precise breakpoints on chromosome 8 affecting multiple genes including SLC20A2 and the known dystonia-related gene THAP1. The deletion co-segregated with disease in all family members. The deletion of THAP1 in addition to SLC20A2 in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family. The identification of an SLC20A2 genomic deletion in a familial form of IBGC demonstrates that reduced SLC20A2 in the absence of mutant protein is sufficient to cause neurodegeneration and that previously reported SLC20A2 mutation frequencies may be underestimated.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-013-0378-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969760PMC
March 2014

Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.

Neurology 2013 May 17;80(19):1771-7. Epub 2013 Apr 17.

Departments of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Objective: We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation.

Methods: Three patients with GRN A9D mutations were evaluated clinically and came to autopsy with subsequent neuropathologic examination.

Results: The clinical diagnoses of patients with GRN A9D mutations were amyotrophic lateral sclerosis, atypical extrapyramidal disorder, and behavioral variant frontotemporal dementia. Immunohistochemistry for TAR DNA-binding protein 43 (TDP-43) revealed variability in morphology and distribution of pathology. One patient had notable involvement of motor neurons in the spinal cord as well as type B TDP-43, whereas 2 other patients had type A TDP-43.

Conclusions: The clinical presentation of the GRN A9D missense mutation is not restricted to behavioral variant frontotemporal dementia and may include aphasia, extrapyramidal features, and, notably, amyotrophic lateral sclerosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0b013e3182919059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719429PMC
May 2013

ACR Appropriateness Criteria(®) myelopathy.

J Am Coll Radiol 2012 May;9(5):315-24

Radiological Associates of Sacramento, Sacramento, CA, USA.

Myelopathy is a problem that requires imaging to distinguish among numerous specifically treatable causes. The first priority is to determine mechanical stability after trauma. Next, it is crucial to distinguish intrinsic disease from extrinsic compression-for example, by epidural abscess. Osteophytes or disc extrusions and metastatic compression are the most common causes of extrinsic lesions. Imaging approaches rely on clinical features such as pain, fever, trauma, and pattern of progression. CT is preferred initially in acute trauma and MRI in all other circumstances. Contrast-enhanced MRI is added when tumor or infection is suspected or with slow or stepwise progression, especially when pain is not prominent. Vascular imaging is used when arteriovenous malformation, fistula, or occlusive disease is suspected. Because the treatment of myelopathy is often complex, treatment planning may require more than one imaging study or sequential examination to assess interval change. The ACR Appropriateness Criteria(®) are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2012.01.010DOI Listing
May 2012

Designing a safer radiology department.

AJR Am J Roentgenol 2012 Feb;198(2):398-404

Department of Radiology, Mayo Clinic, 13400 E Shea Blvd, Scottsdale, AZ 85259, USA.

Objective: Patients presume safety in radiologic services, but the potential to do harm exists in every area of imaging. Radiology department personnel need to understand basic regulatory requirements for safety and how to promote and improve safety in the future.

Conclusion: This article reviews key safety metrics that we think are relevant to radiology and discusses how to define the measures and how we are attempting to translate the metrics into a culture of safety.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2214/AJR.11.7234DOI Listing
February 2012

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Nat Genet 2011 Dec 25;44(2):200-5. Epub 2011 Dec 25.

Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida, USA.

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. We combined genome-wide linkage analysis with exome sequencing and identified 14 different mutations affecting the tyrosine kinase domain of the colony stimulating factor 1 receptor (encoded by CSF1R) in 14 families with HDLS. In one kindred, we confirmed the de novo occurrence of the mutation. Follow-up sequencing identified an additional CSF1R mutation in an individual diagnosed with corticobasal syndrome. In vitro, CSF-1 stimulation resulted in rapid autophosphorylation of selected tyrosine residues in the kinase domain of wild-type but not mutant CSF1R, suggesting that HDLS may result from partial loss of CSF1R function. As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.1027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267847PMC
December 2011

ACR Appropriateness Criteria® on cerebrovascular disease.

J Am Coll Radiol 2011 Aug;8(8):532-8

Columbia University Medical Center, New York, NY, USA.

Stroke is the sudden onset of focal neurologic symptoms due to ischemia or hemorrhage in the brain. Current FDA-approved clinical treatment of acute ischemic stroke involves the use of the intravenous thrombolytic agent recombinant tissue plasminogen activator given <3 hours after symptom onset, following the exclusion of intracerebral hemorrhage by a noncontrast CT scan. Advanced MRI, CT, and other techniques may confirm the stroke diagnosis and subtype, demonstrate lesion location, identify vascular occlusion, and guide other management decisions but, within the first 3 hours after ictus, should not delay or be used to withhold recombinant tissue plasminogen activator therapy after the exclusion of acute hemorrhage on noncontrast CT scans. MR diffusion-weighted imaging is highly sensitive and specific for acute cerebral ischemia and, when combined with perfusion-weighted imaging, may be used to identify potentially salvageable ischemic tissue, especially in the period >3 hours after symptom onset. Advanced CT perfusion methods improve sensitivity to acute ischemia and are increasingly used with CT angiography to evaluate acute stroke as a supplement to noncontrast CT. The ACR Appropriateness Criteria(®) are evidence-based guidelines for specific clinical conditions that are reviewed every 2 years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacr.2011.05.010DOI Listing
August 2011

Use of rituximab for periocular and intraocular mucosa-associated lymphoid tissue lymphoma.

Ocul Immunol Inflamm 2010 Apr;18(2):110-2

Florida Eye Specialists, Jacksonville, Florida 32256, USA.

The clinical efficacy of rituximab therapy in systemic mucosa-associated lymphoid tissue (MALT) lymphoma with both periocular and intraocular involvement is described. Ophthalmic examination and radiologic imaging demonstrated tumor with bilateral periorbital, lacrimal, and subconjunctival infiltration, a pseudohypopyon in one eye, and extensive systemic lymph node involvement. Lymph node biopsy confirmed the pathologic findings of a low-grade MALT lymphoma. The patient had a complete remission within 3 months of starting rituximab therapy. A recurrence 6 months later remitted with a second round of rituximab therapy and the patient remained tumor-free at 1 year.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3109/09273940903450313DOI Listing
April 2010

Computer-assisted volumetric analysis compared with ABC/2 method for assessing warfarin-related intracranial hemorrhage volumes.

Neurocrit Care 2008 ;9(3):307-12

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

Introduction: Intraparenchymal hemorrhage (IPH) volume is a powerful predictor of 30-day mortality. Warfarin-related intracranial hemorrhage (ICH) has a higher mortality than ICH without anticoagulation, possibly due to continued growth after 24 h, larger average size, and extension to extraparenchymal compartments. We compared 2 methods of measuring ICH volume in patients with warfarin-related ICH.

Methods: ICH volume was estimated using the ABC/2 method and a computer-assisted method (Analyze 6.0 software) applied to the initial head computed tomographic scans in a consecutive series of 8 patients with warfarin-related ICH. The 2 methods were compared for relative and absolute differences in estimated hematoma volumes.

Results: The ABC/2 method underestimated hematoma volume in 4 of 5 patients with IPH, inaccurately calculated intraventricular hemorrhage volume in 2 patients (overestimated by 9%, underestimated by 23%), and underestimated a complex subdural hematoma in 1 patient by 24% despite use of the Gebel modification. The mean percentage difference between the Analyze and ABC/2 methods was 24% in ellipsoid hemorrhages and 28% in nonellipsoid hemorrhages (P = 0.77). The mean of the absolute difference between the 2 methods was 6.7 cm3 in ellipsoid hemorrhages and 38.0 cm3 in nonellipsoid hemorrhages (P = 0.18).

Conclusion: The ABC/2 method accurately and quickly estimates smaller, ellipsoid intraparenchymal hematomas but is inaccurate for larger, complex-shaped warfarin-related intraparenchymal, intraventricular, and subdural hematomas. Warfarin-related ICH mortality may be underestimated by the ABC/2 method because of larger, complex-shaped, and multicompartmental hematomas.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12028-008-9089-4DOI Listing
January 2009

MR imaging of brainstem atrophy in progressive supranuclear palsy.

J Neurol 2008 Jan 19;255(1):37-44. Epub 2007 Dec 19.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, United States.

Background: To enhance the sensitivity and specificity of the clinical diagnosis of progressive supranuclear palsy (PSP), neuroradiological parameters established in pathologically proven cases are needed.

Methods: We examined brainstem atrophy in five pathologically confirmed PSP patients (three men, mean age at death 77 years, range 64-84 years). Time interval between symptom onset and MRI ranged from 1 to 5 years, and between MRI and death from 33 to 52 months. Only one patient had clinical diagnosis of PSP at the time of MRI. Control group consisted of 19 age- and gender-matched healthy subjects. Seventeen morphometric parameters of the midbrain and pons were measured on T1-weighted midsagittal and T2-weighted axial MRI scans with Image Analyzer. Measurements of superior cerebellar peduncle (SCP) width were performed on PSP autopsy specimens.

Results: Mean SCP width on MRI in PSP (2.7 +/- 0.8 mm, 95%CI: 2.1-3.3) was smaller than in controls (3.7 +/- 0.5 mm, 95%CI: 3.5-3.9). Mean SCP width at autopsy was 8% smaller than mean SCP width on MRI. Midsagittal midbrain area in PSP (99.1 +/- 6.9 mm(2), 95%CI: 90.5-107.6) was smaller than in controls (141.0 +/- 18.1 mm(2), 95%CI: 132.2-149.7). Midbrain/pons area ratio in PSP was 1:5 and in controls was 1:4 (p < 0.01). Repeat MRI 17 months later in one PSP case revealed 30% decrease of SCP width.

Conclusions: MR imaging with quantitative analysis may be useful in the diagnosis of early PSP and in monitoring disease course.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-007-0656-yDOI Listing
January 2008

Brain injury after cardiopulmonary arrest and its assessment with diffusion-weighted magnetic resonance imaging.

Mayo Clin Proc 2007 Jul;82(7):828-35

Department of Neurology, College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.

Objective: To characterize the frequency and pattern of diffusion-weighted imaging (DWI) abnormalities detected as part of brain magnetic resonance imaging (MRI) and their association with short-term neurologic outcomes in patients successfully resuscitated after cardiopulmonary arrest (CPA).

Patients And Methods: We retrospectively analyzed a case series of patients who experienced CPA between May 1, 2000, and April 29, 2004, at St Luke's Hospital in Jacksonville, Fla. Eligible patients required treatment by the Code Blue team and had 1 DWI study before discharge or death. Two neuroradiologists jointly classified DWI abnormalities by anatomic location. Outcome was measured by Cerebral Performance Category score.

Results: Resuscitation was performed 628 times during the 48-month study period. Of 514 CPA survivors, 18 (3.5%) had MRI studies. The median age was 62 years (interquartile range [IQR], 49-73), and 10 were men. Median code duration was 16 minutes (IQR, 11-19 minutes), and median code-to-scan time was 72 hours (IQR, 28-229 hours). A DWI abnormality was noted in 9 (50%) of 18 patients. Cortical areas (global and regional) were the most common sites of restricted diffusion. Diffusion-weighted imaging abnormalities were present in 7 (70%) of 10 patients with a poor neurologic outcome at discharge.

Conclusion: Magnetic resonance imaging is performed rarely after survival of CPA. In this study with limited sample size, a greater proportion of patients with normal DWI findings had a good neurologic outcome at the time of hospital discharge vs those with abnormal findings. Prospective studies of early and serial MRI (with DWI) are needed to confirm this association and to clarify the prognostic usefulness of such studies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.4065/82.7.828DOI Listing
July 2007

Cerebral amyloid angiopathy: CT and MR imaging findings.

Radiographics 2006 Sep-Oct;26(5):1517-31

Department of Radiology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA.

Cerebral amyloid angiopathy (CAA) is an important but underrecognized cause of cerebrovascular disorders that predominantly affect elderly patients. CAA results from deposition of beta-amyloid protein in cortical, subcortical, and leptomeningeal vessels. This deposition is responsible for the wide spectrum of clinical symptoms and neuroimaging findings. Many cases of CAA are asymptomatic. However, when cases are symptomatic, patients can present with transient neurologic events, progressive cognitive decline, or potentially devastating intracranial hemorrhage. Computed tomography is the imaging study of choice for evaluation of suspected acute cortical hemorrhage, which may be accompanied by subarachnoid, subdural, or intraventricular hemorrhage. Magnetic resonance imaging is best suited for identification of small or chronic cortical hemorrhages and ischemic sequelae of this disease, exclusion of other causes of acute cortical-subcortical hemorrhage, and assessment of disease progression. Accurate recognition of imaging findings is important in guiding clinical decision making in patients with CAA.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1148/rg.265055090DOI Listing
October 2006

Neuroimaging in neuropsychiatry.

Psychiatr Clin North Am 2005 Sep;28(3):549-66, 64

Mayo Clinic College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.

Once limited to structural imaging modalities such as CT and MRI,radiographic evaluation of the psychiatric patient now includes more sophisticated functional techniques such as fMRI, MR spectroscopy, and PET. With the increased sensitivity that these new tools bring comes greater complexity. As new imaging techniques continue to transition from research to clinical application, the imaging options and associated complexity will increase. Consultation with neuroradiology colleagues will allow the practicing psychiatrist to evaluate their patients optimally. These techniques will continue to provide insight into the pathophysiology, etiology, diagnosis, treatment, and prognosis of these patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psc.2005.05.007DOI Listing
September 2005
-->