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PPP2R5D Genetic Mutations and Early-Onset Parkinsonism [Letter]

Walker, Ian M; Riboldi, Giulietta M; Drummond, Patrick; Saade-Lemus, Sandra; Martin-Saavedra, Juan Sebastian; Frucht, Steven; Bardakjian, Tanya M; Gonzalez-Alegre, Pedro; Deik, Andres
PMID: 33098144
ISSN: 1531-8249
CID: 4734472

COVID-19 Severity and Stroke: Correlation of Imaging and Laboratory Markers

Katz, J M; Libman, R B; Wang, J J; Filippi, C G; Sanelli, P; Zlochower, A; Gribko, M; Pacia, S V; Kuzniecky, R I; Najjar, S; Azhar, S
BACKGROUND AND PURPOSE/OBJECTIVE:Coronavirus disease 2019 (COVID-19) appears to be an independent risk factor for stroke. We hypothesize that patients who develop stroke while hospitalized for severe COVID-19 will have higher inflammatory markers and distinct stroke imaging patterns compared with patients positive for COVID-19 with out-of-hospital stroke onset and milder or no COVID-19 symptoms. MATERIALS AND METHODS/METHODS:This is a retrospective case series of patients positive for COVID-19 on polymerase chain reaction testing with imaging-confirmed stroke treated within a large health care network in New York City and Long Island between March 14 and April 26, 2020. Clinical and laboratory data collected retrospectively included complete blood counts and creatinine, alanine aminotransferase, lactate dehydrogenase, C-reactive protein, ferritin, and D-dimer levels. All CT and MR imaging studies were independently reviewed by 2 neuroradiologists who recorded stroke subtype and patterns of infarction and intracranial hemorrhage. RESULTS:< .003). CONCLUSIONS:Patients with stroke hospitalized with severe COVID-19 are characterized by higher inflammatory, coagulopathy, and tissue-damage biomarkers, supporting proposed pathogenic mechanisms of hyperinflammation activating a prothrombotic state. Cautious balancing of thrombosis and the risk of hemorrhagic transformation is warranted when considering anticoagulation.
PMID: 33122216
ISSN: 1936-959x
CID: 4739542

Remote administration of the symbol digit modalities test to individuals with multiple sclerosis is reliable: A short report

Eilam-Stock, Tehila; Shaw, Michael T; Sherman, Kathleen; Krupp, Lauren B; Charvet, Leigh E
Background/UNASSIGNED:The Symbol Digit Modalities Test (SDMT) is the gold standard for cognitive screening in multiple sclerosis (MS). Objective/UNASSIGNED:Due to the recent COVID-19 pandemic and the increased need for virtual clinical visits, we examined the reliability of remote administration of the SDMT vs. standard in-person administration to individuals with MS. Methods/UNASSIGNED:Pearson's correlation analysis was performed between SDMT scores on the in-person and remote administrations. Results/UNASSIGNED: = .000). Conclusion/UNASSIGNED:Remote administration of the SDMT is a reliable cognitive screening approach in MS.
PMCID:7890734
PMID: 33643663
ISSN: 2055-2173
CID: 4801092

Automated Cerebral Hemorrhage Detection Using RAPID

Heit, J J; Coelho, H; Lima, F O; Granja, M; Aghaebrahim, A; Hanel, R; Kwok, K; Haerian, H; Cereda, C W; Venkatasubramanian, C; Dehkharghani, S; Carbonera, L A; Wiener, J; Copeland, K; Mont'Alverne, F
BACKGROUND AND PURPOSE/OBJECTIVE:Intracranial hemorrhage (ICH) is an important event that is diagnosed on head NCCT. Increased NCCT utilization in busy hospitals may limit timely identification of ICH. RAPID ICH is an automated hybrid 2D-3D convolutional neural network application designed to detect ICH that may allow for expedited ICH diagnosis. We determined the accuracy of RAPID ICH for ICH detection and ICH volumetric quantification on NCCT. MATERIALS AND METHODS/METHODS:NCCT scans were evaluated for ICH by RAPID ICH. Consensus detection of ICH by 3 neuroradiology experts was used as the criterion standard for RAPID ICH comparison. ICH volume was also automatically determined by RAPID ICH in patients with intraparenchymal or intraventricular hemorrhage and compared with manually segmented ICH volumes by a single neuroradiology expert. ICH detection accuracy, sensitivity, specificity, positive predictive value, negative predictive value, and positive and negative likelihood ratios by RAPID ICH were determined. RESULTS: = 0.983); the median absolute error was 3 mL. CONCLUSIONS:RAPID ICH is highly accurate in the detection of ICH and in the volumetric quantification of intraparenchymal and intraventricular hemorrhages.
PMID: 33361378
ISSN: 1936-959x
CID: 4732112

Clinical Practice Guidelines by the Infectious Diseases Society of America (IDSA), American Academy of Neurology (AAN), and American College of Rheumatology (ACR): 2020 Guidelines for the Prevention, Diagnosis, and Treatment of Lyme Disease

Lantos, Paul M; Rumbaugh, Jeffrey; Bockenstedt, Linda K; Falck-Ytter, Yngve T; Aguero-Rosenfeld, Maria E; Auwaerter, Paul G; Baldwin, Kelly; Bannuru, Raveendhara R; Belani, Kiran K; Bowie, William R; Branda, John A; Clifford, David B; DiMario, Francis J; Halperin, John J; Krause, Peter J; Lavergne, Valery; Liang, Matthew H; Cody Meissner, H; Nigrovic, Lise E; Nocton, James Jay J; Osani, Mikala C; Pruitt, Amy A; Rips, Jane; Rosenfeld, Lynda E; Savoy, Margot L; Sood, Sunil K; Steere, Allen C; Strle, Franc; Sundel, Robert; Tsao, Jean; Vaysbrot, Elizaveta E; Wormser, Gary P; Zemel, Lawrence S
PMID: 33251716
ISSN: 2326-5205
CID: 4693842

Migraine diagnosis and treatment: A knowledge and needs assessment of women's healthcare providers

Verhaak, Allison M S; Williamson, Anne; Johnson, Amy; Murphy, Andrea; Saidel, Matthew; Chua, Abigail L; Minen, Mia; Grosberg, Brian M
BACKGROUND:Studies suggest that migraine is often underdiagnosed and inadequately treated in the primary care setting, despite many patients relying on their primary care provider (PCP) to manage their migraine. Many women consider their women's healthcare provider to be their PCP, yet very little is known about migraine knowledge and practice patterns in the women's healthcare setting. OBJECTIVE:The objective of this study was to assess women's healthcare providers' knowledge and needs regarding migraine diagnosis and treatment. METHODS:The comprehensive survey assessing migraine knowledge originally developed for PCPs was used in this study, with the addition of a section regarding the use of hormonal medications in patients impacted by migraine. Surveys were distributed online, and primarily descriptive analyses were performed. RESULTS:The online survey was completed by 115 women's healthcare providers (response rate 28.6%; 115/402), who estimated that they serve as PCPs for approximately one-third of their patients. Results suggest that women's healthcare providers generally recognize the prevalence of migraine, but experience some knowledge gaps regarding migraine management. Despite 82.6% (95/115) of survey respondents feeling very comfortable or somewhat comfortable with diagnosing migraine, only 57.9% (66/114) reported routinely asking patients about headaches during annual visits. Very few were familiar with the American Academy of Neurology guidelines on preventative treatment (6.3%; 7/111) and the Choosing Wisely Campaign recommendations on migraine treatment (17.3%; 19/110), and many prescribed medications known to contribute to medication overuse headache. In addition, only 24.3% (28/115) would order imaging for a new type of headache, 35.7% (41/115) for worsening headache, and 47.8% (55/115) for headache with neurologic symptoms; respondents cited greater tendency with sending patients to an emergency department for the same symptoms. Respondents had limited knowledge of evidence-based, non-pharmacological treatments for migraine (i.e., biofeedback or cognitive behavioral therapy), with nearly none placing referrals for these services. Most providers were comfortable prescribing hormonal contraception (mainly progesterone only) to women with migraine without aura (80.9%; 89/110) and with aura (72.5%; 79/109), and followed American College of Obstetricians and Gynecologists (ACOG) guidelines to limit combination hormonal contraception for patients with aura. When queried, 6.3% or less (5/79) of providers would prescribe estrogen-containing contraception for women with migraine with aura. Only 37.3% (41/110) of respondents reported having headache/migraine education. Providers indicated interest in education pertaining to migraine prevention and treatment (96.3%; 105/109), migraine-associated disability (74.3%; 81/109), and diagnostic testing (59.6%; 65/109). CONCLUSION/CONCLUSIONS:Women's healthcare providers appear to have several knowledge gaps regarding the management of migraine in their patients. These providers would likely benefit from access to a headache-specific educational curriculum to improve provider performance and patient outcomes.
PMID: 33377176
ISSN: 1526-4610
CID: 4751832

Whole-Exome Sequencing of Patients with Posterior Segment Uveitis

Li, Angela S; Velez, Gabriel; Darbro, Benjamin; Toral, Marcus A; Yang, Jing; Tsang, Stephen H; Ferguson, Polly J; Folk, James C; Bassuk, Alexander G; Mahajan, Vinit B
OBJECTIVE:To elucidate molecular risk factors for posterior segment uveitis using a functional genomics approach. DESIGN/METHODS:Genetic Association Cohort Study. METHODS:SETTING: Single-center study at an academic referral center. STUDY POPULATION/METHODS:164 patients with clinically diagnosed uveitis of the posterior segment. MAIN OUTCOME MEASURES/METHODS:Exome sequencing was used to detect variants identified in 164 patients with posterior segment uveitis. A phenotype-driven analysis, protein structural modeling and in silico calculations were then used to rank and predict the functional consequences of key variants. RESULTS:A total of 203 single nucleotide variants, in 23 genes across 164 patients, were included in this study. Both known and novel variants were identified in genes previously implicated in specific types of syndromic uveitis - such as NOD2 (Blau Syndrome) and CAPN5 NIV (Neovascular Inflammatory Vitreoretinopathy) - as well as variants in genes not previously linked to posterior segment uveitis. Based on a ranked list and protein-protein-interaction network, missense variants in NOD-like receptor family genes (NOD2, NLRC4, NLRP3, and NLRP1), CAPN5, and TYK2 were characterized via structural modeling and in silico calculations to predict how specific variants might alter protein structure and function. The majority of analyzed variants were notably different from wild type. CONCLUSIONS:This study implicates new pathways and immune signaling proteins that may be associated with posterior segment uveitis susceptibility. A larger cohort and functional studies will help validate the pathogenicity of the mutations identified. In specific cases, whole exome sequencing can help diagnose non-syndromic uveitis patients harboring known variants for syndromic inflammatory diseases.
PMID: 32707200
ISSN: 1879-1891
CID: 4660162

Acute Cerebellar Ataxia Associated with COVID-19 Infection in a 5-Year-Old Boy [Case Report]

O'Neill, Kimberly A; Polavarapu, Aparna
PMCID:8689433
PMID: 34950747
ISSN: 2329-048x
CID: 5262302

Getting Physical: A Specific Boost for Cognition in Epilepsy? [Comment]

Barr, William B
PMID: 34025265
ISSN: 1535-7597
CID: 4888782

Tennis-specific extension of the International Olympic Committee consensus statement: methods for recording and reporting of epidemiological data on injury and illness in sport 2020

Verhagen, Evert; Clarsen, Benjamin; Capel-Davies, Jamie; Collins, Christy; Derman, Wayne; de Winter, Don; Dunn, Nicky; Ellenbecker, Todd S; Forde, Raymond; Hainline, Brian; Larkin, Jo; Reid, Machar; Renstrom, Per Afh; Stroia, Kathleen; Wolstenholme, Sue; Pluim, Babette M
The IOC has proposed standard methods for recording and reporting of data for injury and illness in sport. The IOC consensus statement authors anticipated that sport-specific statements would provide further recommendations. This statement is the tennis-specific extension of the partner IOC statement. The International Tennis Federation Sport Science and Medicine Committee, in collaboration with selected external experts, met in June 2019 to consider athlete health monitoring issues specific to tennis. Once the IOC consensus statement was finalised, the tennis-specific consensus was drafted and agreed on by the members over three iterations. Compared with the IOC consensus statement, the tennis consensus contains tennis-specific information on injury mechanism, mode of onset, injury classification, injury duration, capturing and reporting exposure, reporting risk and study population. Our recommendations apply to able-bodied as well as wheelchair tennis players. Where applicable, specific recommendations are made for wheelchair tennis.
PMID: 33082146
ISSN: 1473-0480
CID: 4702632