GLORIA

GEOMAR Library Ocean Research Information Access

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Journal of Clinical Neuromuscular Disease Vol. 23, No. 2 ( 2021-12), p. 100-104
    In: Journal of Clinical Neuromuscular Disease, Ovid Technologies (Wolters Kluwer Health), Vol. 23, No. 2 ( 2021-12), p. 100-104
    Abstract: Dermatomyositis (DM) is an autoimmune myopathy characterized by proximal muscle weakness and distinct skin findings. DM is associated with an increased risk of malignancy in adults. We describe a case of dermatomyositis with unusually severe oropharyngeal dysphagia and respiratory muscle weakness on presentation, who was found to have underlying metastatic prostate cancer. Prostate cancer is uncommonly associated with DM. The patient tested positive for antitranscription intermediate family-1 (anti-TIF-1, also known as anti-p155/410) antibodies, which are linked to malignancy-associated DM in adults and are associated with dysphagia and more severe cutaneous findings.
    Type of Medium: Online Resource
    ISSN: 1522-0443
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
    detail.hit.zdb_id: 2060540-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 2
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2016
    In:  CONTINUUM: Lifelong Learning in Neurology Vol. 22, No. 4 ( 2016-8), p. 1227-1245
    In: CONTINUUM: Lifelong Learning in Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 22, No. 4 ( 2016-8), p. 1227-1245
    Abstract: Purpose of Review: This article highlights the clinical and diagnostic tools used to assess and classify dystonia and provides an overview of the treatment approach. Recent Findings: In the past 4 years, the definition and classification of dystonia have been revised, and new genes have been identified in patients with isolated hereditary dystonia (DYT23, DYT24, and DYT25). Expanded phenotypes were reported in patients with combined dystonia, such as those with mutations in ATP1A3 . Treatment offerings have expanded as there are more neurotoxins, and deep brain stimulation has been employed successfully in diverse populations of patients with dystonia. Summary: Diagnosis of dystonia rests upon a clinical assessment that requires the examiner to understand the characteristic disease features that are elicited through a careful history and physical examination. The revised classification system uses two distinct nonoverlapping axes: clinical features and etiology. A growing understanding exists of both isolated and combined dystonia as new genes are identified and our knowledge of the phenotypic presentation of previously reported genes has expanded. Genetic testing is commercially available for some of these conditions. Treatment options for dystonia include pharmacologic therapy, chemodenervation, and surgical intervention. Deep brain stimulation benefits many patients with various types of dystonia.
    Type of Medium: Online Resource
    ISSN: 1538-6899 , 1080-2371
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2016
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 3
    Online Resource
    Online Resource
    Elsevier BV ; 2016
    In:  Neurologic Clinics Vol. 34, No. 3 ( 2016-08), p. 651-665
    In: Neurologic Clinics, Elsevier BV, Vol. 34, No. 3 ( 2016-08), p. 651-665
    Type of Medium: Online Resource
    ISSN: 0733-8619
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2016
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 4
    In: Movement Disorders, Wiley, Vol. 25, No. 15 ( 2010-11-15), p. 2536-2541
    Type of Medium: Online Resource
    ISSN: 0885-3185
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2010
    detail.hit.zdb_id: 2041249-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 5
    In: Movement Disorders, Wiley, Vol. 26, No. 10 ( 2011-08-15), p. 1875-1880
    Type of Medium: Online Resource
    ISSN: 0885-3185
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2011
    detail.hit.zdb_id: 2041249-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 6
    Online Resource
    Online Resource
    Journal of Graduate Medical Education ; 2017
    In:  Journal of Graduate Medical Education Vol. 9, No. 2 ( 2017-04-01), p. 231-236
    In: Journal of Graduate Medical Education, Journal of Graduate Medical Education, Vol. 9, No. 2 ( 2017-04-01), p. 231-236
    Abstract: Approaches for teaching neurology documentation include didactic lectures, workshops, and face-to-face meetings. Few studies have assessed their effectiveness. Objective To improve the quality of neurology resident documentation through payroll simulation. Methods A documentation checklist was created based on Medicaid and Medicare evaluation and management (E/M) guidelines. In the preintervention phase, neurology follow-up clinic charts were reviewed over a 16-week period by evaluators blinded to the notes' authors. Current E/M level, ideal E/M level, and financial loss were calculated by the evaluators. Ideal E/M level was defined as the highest billable level based on the documented problems, alongside a supporting history and examination. We implemented an educational intervention that consisted of a 1-hour didactic lecture, followed by e-mail feedback “paystubs” every 2 weeks detailing the number of patients seen, income generated, income loss, and areas for improvement. Follow-up charts were assessed in a similar fashion over a 16-week postintervention period. Results Ten of 11 residents (91%) participated. Of 214 charts that were reviewed preintervention, 114 (53%) had insufficient documentation to support the ideal E/M level, leading to a financial loss of 24% ($5,800). Inadequate documentation was seen in all 3 components: history (47%), examination (27%), and medical decision making (37%). Underdocumentation did not differ across residency years. Postintervention, underdocumentation was reduced to 14% of 273 visits (P & lt; .001), with a reduction in the financial loss to 6% ($1,880). Conclusions Improved documentation and increased potential reimbursement was attained following a didactic lecture and a 16-week period in which individual, specific feedback to neurology residents was provided.
    Type of Medium: Online Resource
    ISSN: 1949-8349 , 1949-8357
    Language: English
    Publisher: Journal of Graduate Medical Education
    Publication Date: 2017
    detail.hit.zdb_id: 2578612-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 7
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 12 ( 2021-2-26)
    Abstract: Mutations and variants in the glucocerebrosidase ( GBA ) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet, penetrance is markedly reduced, and less is known about the burden of carrying a single mutation among those without diagnosed PD. Motor, cognitive, psychiatric, and olfactory functioning were assessed in 30 heterozygous GBA mutation carriers without PD (the majority of whom had mild GBA mutations) and 49 non-carriers without PD. Study focus was on domains affected in GBA mutation carriers with PD, as well as those previously shown to be abnormal in GBA mutation carriers without PD. GBA mutation carriers showed poorer performance on the Stroop interference measure of executive functioning when controlling for age. There were no group differences in verbal memory, Montreal Cognitive Assessment (MoCA), overall motor score, or presence of REM sleep behavior disorder or depression. Although total olfaction scores did not differ, GBA mutation carriers with hyposmia had lower global cognition scores than those without hyposmia. As anticipated by the low penetrance of GBA mutations, these findings suggest that pre-manifest non-motor or motor features of PD may not present in most GBA mutation carriers. However, there is support that there may be a subtle difference in executive functioning among some non-manifesting heterozygous GBA mutation carriers, and, combined with olfaction, this may warrant additional scrutiny as a potential biomarker for pre-manifest and pre-clinical GBA related PD.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2564214-5
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 8
    In: Annals of Neurology, Wiley, Vol. 91, No. 3 ( 2022-03), p. 424-435
    Abstract: This study was undertaken to compare the rate of change in cognition between glucocerebrosidase ( GBA ) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson disease. Methods Clinical and genetic data from 12 datasets were examined. Global cognition was assessed using the Mattis Dementia Rating Scale (MDRS). Subjects were examined for mutations in GBA and categorized as GBA carriers with or without DBS ( GBA +DBS+, GBA +DBS‐), and noncarriers with or without DBS ( GBA ‐DBS+, GBA ‐DBS‐). GBA mutation carriers were subcategorized according to mutation severity (risk variant, mild, severe). Linear mixed modeling was used to compare rate of change in MDRS scores over time among the groups according to GBA and DBS status and then according to GBA severity and DBS status. Results Data were available for 366 subjects (58 GBA +DBS+, 82 GBA +DBS‐, 98 GBA ‐DBS+, and 128 GBA ‐DBS‐ subjects), who were longitudinally followed (range = 36–60 months after surgery). Using the MDRS, GBA +DBS+ subjects declined on average 2.02 points/yr more than GBA ‐DBS‐ subjects (95% confidence interval [CI] = −2.35 to −1.69), 1.71 points/yr more than GBA +DBS‐ subjects (95% CI = −2.14 to −1.28), and 1.49 points/yr more than GBA ‐DBS+ subjects (95% CI = −1.80 to −1.18). Interpretation Although not randomized, this composite analysis suggests that the combined effects of GBA mutations and STN‐DBS negatively impact cognition. We advise that DBS candidates be screened for GBA mutations as part of the presurgical decision‐making process. We advise that GBA mutation carriers be counseled regarding potential risks associated with STN‐DBS so that alternative options may be considered. ANN NEUROL 2022;91:424–435
    Type of Medium: Online Resource
    ISSN: 0364-5134 , 1531-8249
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2037912-2
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 9
    In: Movement Disorders, Wiley, Vol. 37, No. 11 ( 2022-11), p. 2217-2225
    Abstract: Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex‐distribution among glucocerebrosidase ( GBA ) variant carriers with PD, including limited to specific variant severities of GBA , is not well understood. Further, the sex‐specific genetic contribution to PD without a known genetic variant is controversial. Objectives To better understand sex differences in genetic contribution to PD, especially sex‐specific frequencies among GBA variant carriers with PD ( GBA PD) and LRRK2 ‐G2019S variant carriers with PD ( LRRK2 PD). Methods We assess differences in the sex‐specific frequency in GBA PD, including in subsets of GBA variant severity, LRRK2 PD, and idiopathic PD in an Ashkenazi Jewish cohort with PD. Further, we expand prior work evaluating differences in family history of parkinsonism. Results Both idiopathic PD (267/420 men, 63.6%) ( P   〈  0.001) and GBA PD overall (64/107, 59.8%) ( P  = 0.042) were more likely to be men, whereas no difference was seen in LRRK2 PD (50/99, 50.5%) and LRRK2 / GBA PD (5/10, 50%). However, among GBA PD probands, severe variant carriers were more likely to be women (15/19 women, 79.0%) ( P  = 0.005), whereas mild variant carriers (44/70 men, 62.9%) ( P  = 0.039) and risk‐variant carriers (15/17 men, 88.2%) ( P  = 0.001) were more likely to be men. Conclusions Our study demonstrates that the male‐sex predominance present in GBA PD overall was not consistent across GBA variant severities, and a female‐sex predominance was present among severe GBA variant carriers. Therefore, research and trial designs for PD should consider sex‐specific differences, including across GBA variant severities. © 2022 International Parkinson and Movement Disorder Society.
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    RVK:
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2041249-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 10
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2009
    In:  Current Neurology and Neuroscience Reports Vol. 9, No. 4 ( 2009-7), p. 278-284
    In: Current Neurology and Neuroscience Reports, Springer Science and Business Media LLC, Vol. 9, No. 4 ( 2009-7), p. 278-284
    Type of Medium: Online Resource
    ISSN: 1528-4042 , 1534-6293
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2009
    detail.hit.zdb_id: 2094171-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...