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Artikel ; Online: The Crohn's Disease-Health Index: Development and Evaluation of a Novel Outcome Measure.

Varma, Anika / Weinstein, Jennifer / Seabury, Jamison / Rosero, Spencer / Wagner, Ellen / Zizzi, Christine / Kaat, Aaron / Luebbe, Elizabeth / Dilek, Nuran / Heatwole, John / Saubermann, Lawrence / Temple, Larissa / Rogoff, Scott / Heatwole, Chad

Journal of clinical gastroenterology

2024

Abstract: Objective: We sought to develop and validate the Crohn's Disease-Health Index (CD-HI), a disease-specific, patient-reported outcome measure that serially measures Crohn's disease (CD) symptomatic burden in adults with CD.: Background: As therapeutic ... ...

Abstract	Objective: We sought to develop and validate the Crohn's Disease-Health Index (CD-HI), a disease-specific, patient-reported outcome measure that serially measures Crohn's disease (CD) symptomatic burden in adults with CD. Background: As therapeutic interventions are tested among patients with CD, responsive outcome measures are needed to track disease progression and therapeutic gain during clinical trials. Patients and methods: We conducted a national cross-sectional study of individuals with CD to identify the most prevalent and impactful symptoms of CD. The most relevant symptoms were included in the CD-HI. We used factor analysis, qualitative patient interviews, test-retest reliability evaluation, and known group validity testing to evaluate and optimize the CD-HI. Results: The CD-HI contains 12 subscales that comprehensively measure CD burden using the patient's perspective. Fifteen adults with CD beta tested the CD-HI and found the instrument to be clear, easy to use, and relevant to them. Twenty-three adults with CD participated in an assessment of test-retest reliability, which indicated high reliability of individual questions, subscales, and the full instrument (intraclass correlation coefficient = 0.84 for the full instrument). The CD-HI and its subscales demonstrated a high internal consistency (Cronbach α = 0.98 for the full instrument). The CD-HI distinguished between groups of individuals with CD known to differ in disease severity. Conclusions: This research supports the use of the CD-HI as a valid, sensitive, reliable, and relevant patient-reported outcome to determine the multifactorial disease burden of those with CD, assess the relevance and merit of future CD therapies, and support drug labeling claims.
Sprache	Englisch
Erscheinungsdatum	2024-01-26
Erscheinungsland	United States
Dokumenttyp	Journal Article
ZDB-ID	448460-5
ISSN	1539-2031 ; 0192-0790
ISSN (online)	1539-2031
ISSN	0192-0790
DOI	10.1097/MCG.0000000000001976
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Milestones of progression in myotonic dystrophy type 1 and type 2.

Hamel, Johanna I / McDermott, Michael P / Hilbert, James E / Martens, William B / Luebbe, Elizabeth / Tawil, Rabi / Moxley, Richard T / Thornton, Charles A

Muscle & nerve

2022 Band 66, Heft 4, Seite(n) 508–512

Abstract: Introduction/aims: Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to ... ...

Abstract	Introduction/aims: Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to all features. We compared the age-dependent risk for milestone events in DM1 and DM2 and tested for associations with age of onset and sex. Methods: We studied a large cohort of adult participants in a national registry of DM1 and DM2. Using annual surveys from participants, we ascertained milestone events for motor involvement (use of cane, walker, ankle brace, wheelchair, or ventilatory device), systemic involvement (diabetes, pacemaker, cancer), loss of employment due to DM, and death. Results: Mean follow-up of registry participants (929 DM1 and 222 DM2 patients) was 7 years. Disability and motor milestones occurred at earlier ages in DM1 than in DM2. In contrast, the risk of diabetes was higher and tended to occur earlier in DM2 (hazard ratio [HR], 0.56; P ≤ .001). In DM1, the milestone events tended to occur earlier, and life expectancy was reduced, when symptoms began at younger ages. In DM1, men were at greater risk for disability (HR, 1.34; P ≤ .01), use of ankle braces (HR, 1.41; P = .02), and diabetes (HR, 2.2; P ≤ .0001), whereas women were at greater risk for needing walkers (HR, 0.68; P = .001) or malignancy (HR, 0.66; P ≤ .01). Discussion: Milestone events recorded through registries can be used to assess long-term impact of DM in large cohorts. Except for diabetes, the age-related risk of milestone events is greater in DM1 than in DM2.
Mesh-Begriff(e)	Adult ; Cohort Studies ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Male ; Myotonic Dystrophy/diagnosis ; Registries
Sprache	Englisch
Erscheinungsdatum	2022-07-21
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27674
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure.

Varma, Anika / Weinstein, Jennifer / Seabury, Jamison / Rosero, Spencer / Engebrecht, Charlotte / Wagner, Ellen / Zizzi, Christine / Luebbe, Elizabeth A / Dilek, Nuran / McDermott, Michael P / Kissel, John / Sansone, Valeria / Heatwole, Chad

Muscle & nerve

2023 Band 68, Heft 4, Seite(n) 422–431

Abstract: Introduction/aims: As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in ... ...

Abstract	Introduction/aims: As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for clinical monitoring. Our aim was to develop and validate the Facioscapulohumeral Muscular Dystrophy-Health Index (FSHD-HI) as a multifaceted patient-reported outcome measure (PRO) designed to measure disease burden in adults with FSHD. Methods: Through initial interviews with 20 individuals and a national cross-sectional study with 328 individuals with FSHD, we identified the most prevalent and impactful symptoms in FSHD. The most relevant symptoms were included in the FSHD-HI. We used patient interviews, test-retest reliability evaluation, known groups validity testing, and factor analysis to evaluate and optimize the FSHD-HI. Results: The FSHD-HI contains 14 subscales that measure FSHD disease burden from the patient's perspective. Fourteen adults with FSHD participated in semistructured beta interviews and found the FSHD-HI to be clear, usable, and relevant to them. Thirty-two adults with FSHD participated in test-retest reliability assessments, which demonstrated the high reliability of the FSHD-HI total score (intraclass correlation coefficient = 0.924). The final FSHD-HI and its subscales also demonstrated a high internal consistency (Cronbach α = 0.988). Discussion: The FSHD-HI provides researchers and clinicians with a reliable and valid mechanism to measure multifaceted disease burden in patients with FSHD. The FSHD-HI may facilitate quantification of therapeutic effectiveness, as demonstrated by its use as a secondary and exploratory measure in several clinical trials.
Mesh-Begriff(e)	Adult ; Humans ; Cross-Sectional Studies ; Muscular Dystrophy, Facioscapulohumeral/diagnosis ; Muscular Dystrophy, Facioscapulohumeral/therapy ; Reproducibility of Results ; Cost of Illness ; Disease Progression
Sprache	Englisch
Erscheinungsdatum	2023-08-23
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27951
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Patient-Reported Impact of Symptoms in Crohn's Disease.

Varma, Anika / Weinstein, Jennifer / Seabury, Jamison / Rosero, Spencer / Wagner, Ellen / Zizzi, Christine / Luebbe, Elizabeth / Dilek, Nuran / McDermott, Michael / Heatwole, John / Saubermann, Lawrence / Temple, Larissa / Rogoff, Scott / Heatwole, Chad

The American journal of gastroenterology

2022 Band 117, Heft 12, Seite(n) 2033–2045

Abstract: Introduction: Patients with Crohn's disease (CD) experience a variety of symptoms that significantly affect their lives. In this study, we (i) ascertain the most prevalent and impactful symptoms in CD and (ii) identify modifying factors that are ... ...

Abstract	Introduction: Patients with Crohn's disease (CD) experience a variety of symptoms that significantly affect their lives. In this study, we (i) ascertain the most prevalent and impactful symptoms in CD and (ii) identify modifying factors that are associated with a higher disease burden in CD. Methods: We conducted semistructured interviews with adult participants with CD to determine what issues have the greatest impact on their lives. Next, we conducted a large cross-sectional study of individuals with CD to determine the prevalence and relative importance of those symptoms and themes and to identify the demographic features that are associated with a higher disease burden. Results: Sixteen individuals with CD provided 792 direct quotes regarding their symptomatic burden. Four hundred three people with CD participated in our cross-sectional study. The symptomatic themes with the highest prevalence in CD were gastrointestinal issues (93.0%), fatigue (86.4%), dietary restrictions (77.9%), and impaired sleep or daytime sleepiness (75.6%). The symptomatic themes that had the greatest impact on patients' lives (0-4 scale) related to fatigue (1.82), impaired sleep or daytime sleepiness (1.71), gastrointestinal issues (1.66), and dietary restrictions (1.61). Symptomatic theme prevalence was strongly associated with a higher number of soft stools per day, greater number of bowel movements per day, missed work, employment and disability status, and having perianal disease. Discussion: Patients with CD experience numerous symptoms that affect their daily life. These symptoms, some underrecognized, vary based on disease and demographic characteristics and represent potential targets for future therapeutic interventions.
Mesh-Begriff(e)	Adult ; Humans ; Crohn Disease/complications ; Crohn Disease/epidemiology ; Cross-Sectional Studies ; Fatigue/epidemiology ; Fatigue/etiology ; Patient Reported Outcome Measures ; Disorders of Excessive Somnolence/complications
Sprache	Englisch
Erscheinungsdatum	2022-08-22
Erscheinungsland	United States
Dokumenttyp	Journal Article
ZDB-ID	390122-1
ISSN	1572-0241 ; 0002-9270
ISSN (online)	1572-0241
ISSN	0002-9270
DOI	10.14309/ajg.0000000000001954
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Patient-reported impact of symptoms in Huntington disease: PRISM-HD.

Glidden, Alistair M / Luebbe, Elizabeth A / Elson, Molly J / Goldenthal, Steven B / Snyder, Christopher W / Zizzi, Christine E / Dorsey, E Ray / Heatwole, Chad R

Neurology

2020 Band 94, Heft 19, Seite(n) e2045–e2053

Abstract: Objective: To determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden.: Methods: We performed 40 qualitative interviews (n = 20 ... ...

Abstract	Objective: To determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden. Methods: We performed 40 qualitative interviews (n = 20 with HD, n = 20 caregivers) and analyzed 2,082 quotes regarding the symptomatic burden of HD. We subsequently performed a cross-sectional study with 389 participants (n = 156 with HD [60 of whom were prodromal], n = 233 caregivers) to assess the prevalence and relative importance (scale 0-4) of 216 symptoms and 15 symptomatic themes in HD. Cross-correlation analysis was performed based on sex, disease duration, age, number of CAG repeats, disease burden, Total Functional Capacity score, employment status, disease status, and ambulatory status. Results: The symptomatic themes with the highest prevalence in HD were emotional issues (83.0%), fatigue (82.5%), and difficulty thinking (77.0%). The symptomatic themes with the highest relative importance to participants were difficulty thinking (1.91), impaired sleep or daytime sleepiness (1.90), and emotional issues (1.81). High Total Functional Capacity scores, being employed, and having prodromal HD were associated with a lower prevalence of symptomatic themes. Despite reporting no clinical features of the disease, prodromal individuals demonstrated high rates of emotional issues (71.2%) and fatigue (69.5%). There was concordance between the prevalence of symptoms reported by manifest individuals and caregivers. Conclusions: Many symptomatic themes affect the lives of those with HD. These themes have a variable level of importance to the HD population and are identified both by those with HD and by their caregivers.
Mesh-Begriff(e)	Adult ; Aged ; Caregivers/psychology ; Cost of Illness ; Cross-Sectional Studies ; Female ; Humans ; Huntington Disease/diagnosis ; Male ; Middle Aged ; Qualitative Research ; Risk Factors ; Self Report ; Young Adult
Sprache	Englisch
Erscheinungsdatum	2020-03-19
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000008906
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel: What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients.

Hunter, Michael / Heatwole, Chad / Luebbe, Elizabeth / Johnson, Nicholas E

Journal of neuromuscular diseases

2016 Band 3, Heft 3, Seite(n) 425–429

Abstract: There are multiple symptoms that affect adults with spinal muscular atrophy (SMA). The extent of these symptoms and their impact on individuals' lives is not fully known. We interviewed 15 adults with genetically confirmed SMA. Participants were asked to ...

Abstract	There are multiple symptoms that affect adults with spinal muscular atrophy (SMA). The extent of these symptoms and their impact on individuals' lives is not fully known. We interviewed 15 adults with genetically confirmed SMA. Participants were asked to identify issues that have significant impact on their lives. Interviews were recorded, transcribed, coded, and analyzed. Participants provided 1045 direct quotes. 177 potential symptoms of importance were identified. Symptoms were grouped by like topics into fourteen symptomatic themes. The symptoms and issues identified by SMA patients alter their physical, mental, and social health and may be amendable to therapeutic intervention.
Sprache	Englisch
Erscheinungsdatum	2016-08-30
Erscheinungsland	Netherlands
Dokumenttyp	Journal Article
ISSN	2214-3599
ISSN	2214-3599
DOI	10.3233/JND-160168
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions.

Zizzi, Christine E / Luebbe, Elizabeth / Mongiovi, Phillip / Hunter, Michael / Dilek, Nuran / Garland, Connie / Ciafaloni, Emma / Zaidman, Craig M / Kissel, John T / McDermott, Michael P / Johnson, Nicholas / Sansone, Valeria / Heatwole, Chad R

Muscle & nerve

2021 Band 63, Heft 6, Seite(n) 837–844

Abstract: Introduction: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the ... ...

Abstract	Introduction: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. Methods: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. Results: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P < .0001 for both). Discussion: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
Mesh-Begriff(e)	Adolescent ; Adult ; Aged ; Cross-Sectional Studies ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Muscular Atrophy, Spinal/diagnosis ; Patient Reported Outcome Measures ; Severity of Illness Index ; Young Adult
Sprache	Englisch
Erscheinungsdatum	2021-03-24
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.27223
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA).

Mongiovi, Phillip / Dilek, Nuran / Garland, Connie / Hunter, Michael / Kissel, John T / Luebbe, Elizabeth / McDermott, Michael P / Johnson, Nicholas / Heatwole, Chad

Neurology

2018 Band 91, Heft 13, Seite(n) e1206–e1214

Abstract: Objective: To determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population.: Methods: We conducted ... ...

Abstract	Objective: To determine the frequency and relative importance of symptoms experienced by adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a higher burden of disease in this population. Methods: We conducted a cross-sectional study of 359 adults with SMA using the International SMA Patient Registry. Participants provided input regarding 20 symptomatic themes and 207 symptoms that potentially affect adults with SMA. Participants were asked about the relative importance of each symptom, and analysis was conducted to determine how age, sex, SMA type, education, mobility, and employment status relate to symptom prevalence. Results: Limitations with mobility or walking (98.6%) and the inability to do activities (98.6%) were the 2 themes with the highest prevalence in the study sample. Limitation with mobility or walking was the theme that was identified as having the greatest effect on the lives of adults with SMA. Employment status was associated with the prevalence of 4 of 20 themes and a reliance on an assistive device was associated with 7 of 20 themes. The prevalence of breathing difficulties, choking or swallowing difficulties, and communication difficulties differed among those with different SMA types. Conclusions: There are many symptomatic themes that affect the lives of adults with SMA. These themes vary in prevalence and relative importance in the adult SMA population.
Mesh-Begriff(e)	Activities of Daily Living ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Communication Disorders/epidemiology ; Communication Disorders/etiology ; Communication Disorders/physiopathology ; Cross-Sectional Studies ; Deglutition Disorders/epidemiology ; Deglutition Disorders/etiology ; Deglutition Disorders/physiopathology ; Disability Evaluation ; Employment ; Female ; Humans ; Male ; Middle Aged ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/epidemiology ; Muscular Atrophy, Spinal/physiopathology ; Patient Reported Outcome Measures ; Prevalence ; Respiration Disorders/epidemiology ; Respiration Disorders/etiology ; Respiration Disorders/physiopathology ; Self-Help Devices ; Walking ; Young Adult
Sprache	Englisch
Erscheinungsdatum	2018-08-24
Erscheinungsland	United States
Dokumenttyp	Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000006241
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Patient-reported study of the impact of pediatric-onset myotonic dystrophy.

Hunter, Michael / Ekstrom, Anne-Berit / Campbell, Craig / Hung, Man / Bounsanga, Jerry / Bates, Kameron / Adams, Heather R / Luebbe, Elizabeth / Moxley, Richard T / Heatwole, Chad / Johnson, Nicholas E

Muscle & nerve

2019 Band 60, Heft 4, Seite(n) 392–399

Abstract: Introduction: The prevalence and impact of symptoms affecting individuals with pediatric forms of myotonic dystrophy type-1 (DM1) are not well understood.: Methods: Patients from the United States, Canada, and Sweden completed a survey that ... ...

Abstract	Introduction: The prevalence and impact of symptoms affecting individuals with pediatric forms of myotonic dystrophy type-1 (DM1) are not well understood. Methods: Patients from the United States, Canada, and Sweden completed a survey that investigated 20 themes associated with pediatric-onset DM1. Participants reported the prevalence and importance of each theme affecting their lives. Surveys from participants were matched with surveys from their caregivers for additional analysis. Results: The most prevalent symptomatic themes included problems with hands or fingers (79%) and gastrointestinal issues (75%). Problems with urinary/bowel control and gastrointestinal issues were reported to have the greatest impact on patients' lives. Responses from participants and their caregivers had varying levels of agreement among symptomatic themes. Discussion: Many symptoms have meaningful impact on disease burden. The highest levels of agreement between caregivers and individuals with pediatric forms of myotonic dystrophy were found for physical activity themes.
Mesh-Begriff(e)	Activities of Daily Living ; Adolescent ; Adult ; Caregivers ; Child ; Child, Preschool ; Communication ; Cost of Illness ; Deglutition Disorders/etiology ; Deglutition Disorders/physiopathology ; Female ; Fingers/physiopathology ; Gastrointestinal Diseases/etiology ; Gastrointestinal Diseases/physiopathology ; Hand/physiopathology ; Humans ; Male ; Mobility Limitation ; Muscle Weakness/etiology ; Muscle Weakness/physiopathology ; Myotonia/etiology ; Myotonia/physiopathology ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/physiopathology ; Myotonic Dystrophy/psychology ; Patient Reported Outcome Measures ; Young Adult
Sprache	Englisch
Erscheinungsdatum	2019-07-26
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.26632
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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Artikel ; Online: Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial.

Heatwole, Chad / Luebbe, Elizabeth / Rosero, Spencer / Eichinger, Katy / Martens, William / Hilbert, James / Dekdebrun, Jeanne / Dilek, Nuran / Zizzi, Christine / Johnson, Nicholas / Puwanant, Araya / Tawil, Rabi / Schifitto, Giovanni / Beck, Christopher A / Richeson, J Franklin / Zareba, Wojciech / Thornton, Charles / McDermott, Michael P / Moxley, Richard

Neurology

2020 Band 96, Heft 2, Seite(n) e228–e240

Abstract: Objective: To assess mexiletine's long-term safety and effect on 6-minute walk distance in a well-defined cohort of patients with myotonic dystrophy type 1 (DM1).: Methods: We performed a randomized, double-blind, placebo-controlled trial of ... ...

Abstract	Objective: To assess mexiletine's long-term safety and effect on 6-minute walk distance in a well-defined cohort of patients with myotonic dystrophy type 1 (DM1). Methods: We performed a randomized, double-blind, placebo-controlled trial of mexiletine (150 mg 3 times daily) to evaluate its efficacy and safety in a homogenous cohort of adult ambulatory patients with DM1. The primary outcome was change in 6-minute walk distance at 6 months. Secondary outcomes included changes in hand grip myotonia, strength, swallowing, forced vital capacity, lean muscle mass, Myotonic Dystrophy Health Index scores, and 24-hour Holter and ECG results at 3 and 6 months. Results: Forty-two participants were randomized and 40 completed the 6-month follow-up (n = 20 in both groups). No significant effects of mexiletine were observed on 6-minute walk distance, but hand grip myotonia was improved with mexiletine treatment. There were no differences between the mexiletine and placebo groups with respect to the frequency or type of adverse events. Changes in PR, QRS, and QTc intervals were similar in mexiletine- and placebo-treated participants. Conclusions: There was no benefit of mexiletine on 6-minute walk distance at 6 months. Although mexiletine had a sustained positive effect on objectively measured hand grip myotonia, this was not seen in measures reflecting participants' perceptions of their myotonia. No effects of mexiletine on cardiac conduction measures were seen over the 6-month follow-up period. Classification of evidence: This study provides Class I evidence that for ambulatory patients with DM1, mexiletine does not significantly change 6-minute walk distance at 6 months.
Mesh-Begriff(e)	Adult ; Cohort Studies ; Double-Blind Method ; Electrocardiography/drug effects ; Electrocardiography/trends ; Female ; Hand Strength/physiology ; Humans ; Male ; Mexiletine/pharmacology ; Mexiletine/therapeutic use ; Middle Aged ; Myotonic Dystrophy/diagnosis ; Myotonic Dystrophy/drug therapy ; Myotonic Dystrophy/physiopathology ; Voltage-Gated Sodium Channel Blockers/pharmacology ; Voltage-Gated Sodium Channel Blockers/therapeutic use ; Walk Test/methods ; Walk Test/trends
Chemische Substanzen	Voltage-Gated Sodium Channel Blockers ; Mexiletine (1U511HHV4Z)
Sprache	Englisch
Erscheinungsdatum	2020-10-12
Erscheinungsland	United States
Dokumenttyp	Journal Article ; Randomized Controlled Trial ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000011002
Datenquelle	MEDical Literature Analysis and Retrieval System OnLINE

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