5 results on '"Notermans, Nicolette C."'
Search Results
2. Enriched enrollment randomized double-blind placebo-controlled cross-over trial with phenytoin cream in painful chronic idiopathic axonal polyneuropathy (EPHENE): a study protocol
- Author
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Onderzoek NEU, Data Science & Biostatistiek, Projectafdeling ALS, Brain, Opleiding Neurologie, Neurologie, Neurologen, Kopsky, David J., van Eijk, Ruben P.A., Warendorf, Janna K., Keppel Hesselink, Jan M., Notermans, Nicolette C., Vrancken, Alexander F.J.E., Onderzoek NEU, Data Science & Biostatistiek, Projectafdeling ALS, Brain, Opleiding Neurologie, Neurologie, Neurologen, Kopsky, David J., van Eijk, Ruben P.A., Warendorf, Janna K., Keppel Hesselink, Jan M., Notermans, Nicolette C., and Vrancken, Alexander F.J.E.
- Published
- 2022
3. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
- Author
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M.E. van der Beek, Nadine A., de Vries, Juna M., C. Hagemans, Marloes L., Wim C.J. Hop, Kroos, Marian A., J. Wokke, John H., de Visser, Marianne, M. van Engelen, Baziel G., M. Kuks, Jan B., van der Kooi, Anneke J., Notermans, Nicolette C., Faber, Karin G., G.M. Verschuuren, Jan J., J. Reuser, Arnold J., van der Ploeg, Ans T., and van Doom, Pieter A.
- Subjects
GLYCOGEN storage disease type II ,APPLIED kinesiology ,VITAL capacity (Respiration) ,MUSCLE strength ,PHYSICAL fitness - Abstract
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression. Methods: We conducted a single-center, prospective, observational study. Muscle strength (manual muscle testing, and hand-held dynamometry), muscle function (quick motor function test), and pulmonary function (forced vital capacity in sitting and supine positions) were assessed every 3-6 months and analyzed using repeated-measures ANOVA. Results: Between October 2004 and August 2009, 94 patients aged between 25 and 75 years were included in the study. Although skeletal muscle weakness was typically distributed in a limb-girdle pattern, many patients had unfamiliar features such as ptosis (23%), bulbar weakness (28%), and scapular winging (33%). During follow-up (average 1.6 years, range 0.5-4.2 years), skeletal muscle strength deteriorated significantly (mean declines of -1.3% point/year for manual muscle testing and of -2.6% points/year for hand-held dynamometry; both p<0.001). Longer disease duration (>15 years) and pulmonary involvement (forced vital capacity in sitting position <80%) at study entry predicted faster decline. On average, forced vital capacity in supine position deteriorated by 1.3% points per year (p=0.02). Decline in pulmonary function was consistent across subgroups. Ten percent of patients declined unexpectedly fast. Conclusions: Recognizing patterns of common and less familiar characteristics in adults with Pompe disease facilitates timely diagnosis. Longer disease duration and reduced pulmonary function stand out as predictors of rapid disease progression, and aid in deciding whether to initiate enzyme replacement therapy, or when. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
4. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
- Author
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de Vries, Juna M., A.M.E. van der Beek, Nadine, J. Hop, Wim C., J. Karstens, Francois P., Wokke, John H., de Visser, Marianne, M. van Engelen, Baziel G., M. Kuks, Jan B., van der Kooi, Anneke J., Notermans, Nicolette C., Faber, Catharina G., G.M. Verschuuren, Jan J., Kruijshaar, Michelle E., J. Reuser, Arnold J., van Doorn, Pieter A., and van der Pleog, Ans T.
- Subjects
GLYCOGEN storage disease type II ,PHYSICAL fitness ,MUSCLE strength ,APPLIED kinesiology ,NEUROMUSCULAR diseases ,SLEEP positions - Abstract
Background: Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also identified potential prognostic factors. Methods: Patients in this open-label single-center study were treated biweekly with 20 mg/kg alglucosidase alfa. Muscle strength, muscle function, and pulmonary function were assessed every 3-6 months and analyzed using repeated-measures ANOVA. Results: Sixty-nine patients (median age 52.1 years) were followed for a median of 23 months. Muscle strength increased after start of ERT (manual muscle testing 1.4 percentage points per year (pp/y); hand-held dynamometry 4.0 pp/y; both p < 0.001). Forced vital capacity (FVC) remained stable when measured in upright, but declined in supine position (-1.1 pp/y; p = 0.03). Muscle function did not improve in all patients (quick motor function test 0.7 pp/y; p = 0.14), but increased significantly in wheelchair-independent patients and those with mild and moderate muscle weakness. Relative to the pre-treatment period (49 patients with 14 months pre-ERT and 22 months ERT median follow-up), ERT affected muscle strength positively (manual muscle testing +3.3 pp/y, p < 0.001 and hand-held dynamometry +7.9 pp/y, p < 0.001). Its effect on upright FVC was +1.8 pp/y (p = 0.08) and on supine FVC +0.8 (p = 0.38). Favorable prognostic factors were female gender for muscle strength, and younger age and better clinical status for supine FVC. Conclusions: We conclude that ERT positively alters the natural course of Pompe disease in adult patients; muscle strength increased and upright FVC stabilized. Functional outcome is probably best when ERT intervention is timely. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
5. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
- Author
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van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, and van Doorn PA
- Subjects
- Adult, Aged, Disease Progression, Female, Glycogen Storage Disease diagnosis, Glycogen Storage Disease enzymology, Glycogen Storage Disease pathology, Glycogen Storage Disease Type II enzymology, Glycogen Storage Disease Type II pathology, Humans, Male, Middle Aged, Prospective Studies, alpha-Glucosidases genetics, alpha-Glucosidases metabolism, Glycogen Storage Disease Type II diagnosis
- Abstract
Background: Due partly to physicians' unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression., Methods: We conducted a single-center, prospective, observational study. Muscle strength (manual muscle testing, and hand-held dynamometry), muscle function (quick motor function test), and pulmonary function (forced vital capacity in sitting and supine positions) were assessed every 3-6 months and analyzed using repeated-measures ANOVA., Results: Between October 2004 and August 2009, 94 patients aged between 25 and 75 years were included in the study. Although skeletal muscle weakness was typically distributed in a limb-girdle pattern, many patients had unfamiliar features such as ptosis (23%), bulbar weakness (28%), and scapular winging (33%). During follow-up (average 1.6 years, range 0.5-4.2 years), skeletal muscle strength deteriorated significantly (mean declines of -1.3% point/year for manual muscle testing and of -2.6% points/year for hand-held dynamometry; both p<0.001). Longer disease duration (>15 years) and pulmonary involvement (forced vital capacity in sitting position <80%) at study entry predicted faster decline. On average, forced vital capacity in supine position deteriorated by 1.3% points per year (p=0.02). Decline in pulmonary function was consistent across subgroups. Ten percent of patients declined unexpectedly fast., Conclusions: Recognizing patterns of common and less familiar characteristics in adults with Pompe disease facilitates timely diagnosis. Longer disease duration and reduced pulmonary function stand out as predictors of rapid disease progression, and aid in deciding whether to initiate enzyme replacement therapy, or when.
- Published
- 2012
- Full Text
- View/download PDF
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