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Article: Individuelle Abstimmung bei der Behandlung Medikamentöse und alternative Therapien für Epilepsiepatienten

von Spiczak, Sarah

2017 Volume 29, Issue 3, Page(s) 18

Language	German
Document type	Article
ZDB-ID	2440229-1
ISSN	1867-2132 ; 1437-1782
Database	Current Contents Medicine

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Article ; Online: Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.

Herzog, Rebecca / Hellenbroich, Yorck / Brüggemann, Norbert / Lohmann, Katja / Grimmel, Mona / Haack, Tobias B / von Spiczak, Sarah / Münchau, Alexander

Annals of clinical and translational neurology

2021 Volume 8, Issue 7, Page(s) 1524–1527

Abstract: We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been ... ...

Abstract	We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been identified as a cause of autosomal dominant progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient's gait and thus mobility.
MeSH term(s)	Anticonvulsants/therapeutic use ; Female ; Humans ; Myoclonic Epilepsies, Progressive/diagnosis ; Myoclonic Epilepsies, Progressive/drug therapy ; Myoclonic Epilepsies, Progressive/genetics ; Pedigree ; Semaphorins/genetics ; Whole Exome Sequencing/methods ; Young Adult ; Zonisamide/therapeutic use
Chemical Substances	Anticonvulsants ; SEMA6B protein, human ; Semaphorins ; Zonisamide (459384H98V)
Language	English
Publishing date	2021-06-06
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.51403
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants.

Krey, Ilona / von Spiczak, Sarah / Johannesen, Kathrine M / Hikel, Christiane / Kurlemann, Gerhard / Muhle, Hiltrud / Beysen, Diane / Dietel, Tobias / Møller, Rikke S / Lemke, Johannes R / Syrbe, Steffen

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

2022 Volume 19, Issue 1, Page(s) 334–341

Abstract: Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF ... ...

Abstract	Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF variants with co-agonists of the NMDAR. In this respect, we describe a retrospectively collected series of ten individuals with GRIN2A- or GRIN2B-related disorders who were treated with L-serine, each within an independent n-of-1 trial. Our cohort comprises one individual with a LoF missense variant with clinical improvements confirming the above hypothesis and replicating a previous n-of-1 trial. A second individual with a GoF missense variant was erroneously treated with L-serine and experienced immediate temporary behavioral deterioration further supporting the supposed functional pathomechanism. Eight additional individuals with null variants (that had been interpreted as loss-of-function variants despite not being missense) again showed clinical improvements. Among all nine individuals with LoF missense or null variants, L-serine treatment was associated with improvements in behavior in eight (89%), in development in four (44%), and/or in EEG or seizure frequency in four (44%). None of these nine individuals experienced side effects or adverse findings in the context of L-serine treatment. In summary, we describe the first evidence that L-serine treatment may not only be associated with clinical improvements in GRIN-related disorders due to LoF missense but particularly also null variants.
MeSH term(s)	Electroencephalography ; Humans ; Receptors, N-Methyl-D-Aspartate/genetics ; Retrospective Studies ; Seizures/drug therapy ; Seizures/genetics ; Serine/genetics
Chemical Substances	Receptors, N-Methyl-D-Aspartate ; Serine (452VLY9402)
Language	English
Publishing date	2022-01-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2316693-9
ISSN	1878-7479 ; 1933-7213
ISSN (online)	1878-7479
ISSN	1933-7213
DOI	10.1007/s13311-021-01173-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: iHealth Diaries - how to do it right

Assmann, Mira / Martens, Ulla / Von Spiczak, Sarah / Siniatchkin, Michael

Psychotherapie im Dialog

2018 Volume 19, Issue 4, Page(s) 40–45

Abstract: Bei der Kommunikation zwischen Klinikern und Patienten ist aktuell nicht mehr Frage, ob diese auch digital stattfindet, sondern wie. Die bisherige Evidenz zeigt Ansätze, die internetbasierte und traditionelle Interventionen kombinieren. Interessant sind ... ...

Title translation	iHealth diaries - how to do it right
Abstract	Bei der Kommunikation zwischen Klinikern und Patienten ist aktuell nicht mehr Frage, ob diese auch digital stattfindet, sondern wie. Die bisherige Evidenz zeigt Ansätze, die internetbasierte und traditionelle Interventionen kombinieren. Interessant sind dabei unter anderem die Möglichkeiten, die für Verlaufskontrolle und Nachsorge im klinischen Bereich entstehen. Im vorliegenden Beitrag werden Chancen und Grenzen zur Bestimmung von Qualitätskriterien skizziert. Im Mittelpunkt steht dabei die von G. Rabending entwickelte Online-Anwendung "EPI-Vista", die es ermöglicht, den Überblick über Änderungen der Behandlungsstrategie zu bewahren und Entscheidungen basierend auf einer langen und objektiven Symptombeobachtung zu treffen. Thematisiert werden auch die Compliance bei Online-Programmen sowie Wirkfaktoren.
Keywords	Computer Applications ; Computeranwendungen ; Internet ; Psychotherapie ; Psychotherapy ; Telemedicine ; Telemedizin ; Therapieergebnisse ; Treatment Outcomes
Language	German
Document type	Article
ZDB-ID	2015119-6
ISSN	1439-913X ; 1438-7026
ISSN (online)	1439-913X
ISSN	1438-7026
DOI	10.1055/a-0592-0455
Database	PSYNDEX

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Zs.A 5279: Show issues

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Article: Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy

Herzog, Rebecca / Hellenbroich, Yorck / Brüggemann, Norbert / Lohmann, Katja / Grimmel, Mona / Haack, Tobias B. / von Spiczak, Sarah / Münchau, Alexander

Annals of Clinical and Translational Neurology

2021 Volume 8, Issue 7, Page(s) 1524–1527

Title translation	Auf Zonisamid reagierender Myoklonus bei SEMA6B-assoziierter progressiver myoklonischer Epilepsie (DeepL)
Abstract	We present a female patient in her early twenties with global development delay, progressive ataxia, epilepsy, and myoclonus caused by a stop mutation in the SEMA6B gene. Truncating DNA variants located in the last exon of SEMA6B have recently been identified as a cause of autosomal dominant progressive myoclonus epilepsy. In many cases, myoclonus in the context of progressive myoclonic epilepsy is refractory to medical treatment. In the present case, treatment with zonisamide caused clinical improvement, particularly of positive and negative truncal myoclonus, considerably improving patient's gait and thus mobility.
Keywords	Ataxia ; Ataxie ; Bewegungsstörungen ; Drug Therapy ; Epilepsie ; Epilepsy ; Gene ; Genes ; Genetics ; Genetik ; Medikamentöse Therapie ; Movement Disorders ; Myoclonus ; Myoklonie ; Therapieergebnisse ; Treatment Outcomes
Language	English
Document type	Article
DOI	10.1002/acn3.51403
Database	PSYNDEX

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Article ; Online: Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome.

Strzelczyk, Adam / Kurlemann, Gerhard / Bast, Thomas / Bettendorf, Ulrich / Kluger, Gerhard / Mayer, Thomas / Neubauer, Bernd A / Polster, Tilman / von Spiczak, Sarah / Trollmann, Regina / Wolff, Markus / Toward, Toby / Gruenert, Jens / Gibson, Eddie / Pritchard, Clive / Carroll, Joe / Rosenow, Felix / Schubert-Bast, Susanne

Neurological research and practice

2022 Volume 4, Issue 1, Page(s) 22

Abstract: Background: In Dravet syndrome (DS), a rare epileptic and developmental encephalopathy, the effectiveness of a new treatment is predominantly measured in terms of seizure frequency. However, this may not fully capture the impact of a treatment on the ... ...

Abstract	Background: In Dravet syndrome (DS), a rare epileptic and developmental encephalopathy, the effectiveness of a new treatment is predominantly measured in terms of seizure frequency. However, this may not fully capture the impact of a treatment on the broader aspects of the syndrome and patients' health-related quality of life (HRQoL). Using a previously published survey which collected data from DS patients and their carers on the broader manifestations of their syndrome, their HRQoL, and their experience of seizures, this study created composite measures of symptom severity to offer new perspectives on the multifaceted aspects of this rare condition. Methods: Survey responses on the severity of physical and psychosocial symptoms were combined with independent assessments of disability and care need, to generate three composite symptom scores assessing the manifestations of DS (physical, psychosocial and care requirements). Variation in HRQoL was investigated in multiple regression analyses to assess the strength of association between each of these composite measures and three forms of seizure measures (seizure frequency, days with no seizures and longest interval without seizures), as experienced over a 4- and 12-week period. Results: Composite scores were calculated for a cohort of 75 primarily paediatric patients who were enrolled in the study. Strong associations were found between each of the three composite symptom scores and each of the three seizure measures, with the regression coefficient on symptom score highly significant (p ≤ 0.001) in all nine comparisons. Separate regressions using predictors of HRQoL (Kiddy KINDL and Kid KINDL) as the dependent variable were inconclusive, identifying only behavioural/attention problems and status epilepticus as significant predictors of HRQoL. Conclusions: These results allow the development of a composite score that may be useful in developing a clinical understanding of the severity of DS for an individual patient and establishing their treatment goals. Where measurement of long-term sequalae of disease is not feasible, such as clinical trials, correlation of the composite score with experience of seizures and seizure-free periods may allow a better contextualisation of the results of short-term assessments. Trial registration: German Clinical Trials Register (DRKS), DRKS00011894. Registered 16 March 2017, http://www.drks.de/ DRKS00011894.
Language	English
Publishing date	2022-06-06
Publishing country	England
Document type	Journal Article
ISSN	2524-3489
ISSN (online)	2524-3489
DOI	10.1186/s42466-022-00186-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: SVD Square-root Iterated Extended Kalman Filter for Modeling of Epileptic Seizure Count Time Series with External Inputs.

Moontaha, Sidratul / Galka, Andreas / Siniatchkin, Michael / Scharlach, Sascha / von Spiczak, Sarah / Stephani, Ulrich / May, Theodor / Meurer, Thomas

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

2019 Volume 2019, Page(s) 616–619

Abstract: In this paper a nonlinear filtering algorithm for count time series is developed that takes the non-negativity of the data into account and preserves positive definiteness of the covariance matrices of the model. For this purpose, a recently proposed ... ...

Abstract	In this paper a nonlinear filtering algorithm for count time series is developed that takes the non-negativity of the data into account and preserves positive definiteness of the covariance matrices of the model. For this purpose, a recently proposed variant of Kalman Filtering based on Singular Value Decomposition is incorporated into Iterative Extended Kalman Filtering, in order to estimate the states of a nonlinear state space model. The resulting algorithm is applied to the evaluation and design of therapies for patients suffering from Myoclonic Astatic Epilepsy, employing time series of daily seizure rate. The analysis provides a decision whether for a specific patient a particular anti-epileptic drug is increasing or reducing the seizure rate. Through a simulation study the proposed algorithm is validated. Additionally, for clinical data results obtained by the proposed algorithm are compared with the results from a Cox-Stuart trend test as well as with the visual assessment of experienced pediatric epileptologists.
MeSH term(s)	Algorithms ; Child ; Epilepsy ; Humans ; Nonlinear Dynamics ; Seizures
Language	English
Publishing date	2019-12-30
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2694-0604
ISSN (online)	2694-0604
DOI	10.1109/EMBC.2019.8857159
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany.

Orphanet journal of rare diseases

2023 Volume 18, Issue 1, Page(s) 98

Abstract: Background: This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality.: Methods: This multicenter, cross-sectional study of ... ...

Abstract	Background: This study measured sleep quality among caregivers of patients with Dravet syndrome (DS) and assessed the impacts of mental health problems and caregiver burden on sleep quality. Methods: This multicenter, cross-sectional study of patients with DS and their caregivers throughout Germany consisted of a questionnaire and a prospective 4-week diary querying disease characteristics, demographic data, living conditions, nocturnal supervision, and caregivers' work situations. Sleep quality was assessed using the Pittsburgh Sleeping Quality Index (PSQI). The Hospital Anxiety and Depression Scale (HADS) and the Burden Scale for Family Caregivers (BSFC) were used to measure anxiety, symptoms of depression, and caregiver burden. Results: Our analysis included 108 questionnaires and 82 four-week diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 ± 10.0 years. Caregivers were 92.6% (n = 100) female, with a mean age of 44.7 ± 10.6 years. The overall mean PSQI score was 8.7 ± 3.5, with 76.9% of participants (n = 83) scoring 6 or higher, indicating abnormal sleep quality. The HADS for anxiety and depression had overall mean scores of 9.3 ± 4.3 and 7.9 ± 3.7, respectively; 61.8% and 50.9% of participants scored above the cutoff value of 8 for anxiety and depression, respectively. Statistical analyses revealed caregiver anxiety levels and patients' sleep disturbances as major factors influencing PSQI scores. The overall mean BSFC score of 41.7 ± 11.7 indicates a moderate burden, with 45.3% of caregivers scoring 42 or higher. Conclusions: Sleep quality is severely affected among caregivers of patients with DS, correlating with anxiety, comorbidities, and patients' sleep disturbances. A holistic therapeutic approach should be implemented for patients with DS and their caregivers, focusing on the sleep quality and mental health of caregivers. Trial registration: German Clinical Trials Register (DRKS), DRKS00016967. Registered 27 May 2019, http://www.drks.de/DRKS00016967.
MeSH term(s)	Humans ; Male ; Female ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Quality of Life/psychology ; Caregiver Burden ; Sleep Quality ; Depression/psychology ; Cross-Sectional Studies ; Prospective Studies ; Anxiety ; Caregivers/psychology ; Surveys and Questionnaires ; Epilepsies, Myoclonic ; Germany ; Sleep Wake Disorders ; Patient Care
Language	English
Publishing date	2023-04-29
Publishing country	England
Document type	Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-023-02697-3
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Article ; Online: The role of genetic testing in epilepsy diagnosis and management.

Weber, Yvonne G / Biskup, Saskia / Helbig, Katherine L / Von Spiczak, Sarah / Lerche, Holger

Expert review of molecular diagnostics

2017 Volume 17, Issue 8, Page(s) 739–750

Abstract: Introduction: Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, ... ...

Abstract	Introduction: Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.
Language	English
Publishing date	2017-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2112530-2
ISSN	1744-8352 ; 1473-7159
ISSN (online)	1744-8352
ISSN	1473-7159
DOI	10.1080/14737159.2017.1335598
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Zs.A 6073: Show issues

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Article ; Online: Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in Germany.

Epilepsia

2023 Volume 65, Issue 1, Page(s) 115–126

Abstract: Objective: The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) and caregivers' knowledge about sudden unexpected death in epilepsy (SUDEP).: ...

Abstract	Objective: The aim was to investigate the monitoring, interventions, and occurrence of critical, potentially life-threatening incidents in patients with Dravet syndrome (DS) and caregivers' knowledge about sudden unexpected death in epilepsy (SUDEP). Methods: This multicenter, cross-sectional study of patients with DS and their caregivers in Germany consisted of a questionnaire and prospective diary querying the disease characteristics and demographic data of patients and caregivers. Results: Our analysis included 108 questionnaires and 82 diaries. Patients with DS were 49.1% male (n = 53), with a mean age of 13.5 (SD ± 10.0 years) and primary caregivers were 92.6% (n = 100) female, with a mean age of 44.7 (SD ± 10.6 years). Monitoring devices were used regularly by 75.9% (n = 82) of caregivers, and most monitored daily/nightly. Frequently used devices were pulse oximeters (64.6%), baby monitors (64.6%), thermometers (24.1%), and Epi-Care (26.8%). Younger caregiver and patient age and history of status epilepticus were associated with increased use of monitoring, and 81% of monitor users reported having avoided a critical incident with nocturnal monitoring. The need for resuscitation due to cardiac or respiratory arrest was reported by 22 caregivers (20.4%), and most cases (72.7%) were associated with a seizure. Caregivers reported frequently performing interventions at night, including oropharyngeal suction, oxygenation, personal hygiene, and change of body position. Most caregivers were well informed about SUDEP (n = 102; 94%) and monitored for a lateral or supine body position; however, only 39.8% reported receiving resuscitation training, whereas 52.8% (n = 57) knew what to do in case the child's breathing or heart activity failed. Significance: Critical incidents and the need for resuscitation are reported frequently by caregivers and may be related to high mortality and SUDEP rates in DS. Resuscitation training is welcomed by caregivers and should be continuously provided. Oxygen monitoring devices are frequently used and considered useful by caregivers.
MeSH term(s)	Child ; Humans ; Male ; Female ; Adolescent ; Adult ; Sudden Unexpected Death in Epilepsy ; Caregivers ; Prospective Studies ; Cross-Sectional Studies ; Death, Sudden/epidemiology ; Death, Sudden/etiology ; Epilepsies, Myoclonic/therapy ; Germany/epidemiology
Language	English
Publishing date	2023-11-10
Publishing country	United States
Document type	Multicenter Study ; Journal Article
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17799
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