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德国大瑞士山地犬特发性癫痫的表型——一项回顾性研究

Phenotype of Idiopathic Epilepsy in Great Swiss Mountain Dogs in Germany-A Retrospective Study.

作者信息

Ostermann Theresa Elisabeth, Nessler Jasmin Nicole, Urankar Hildegard, Bachmann Norbert, Fechler Christel, Bathen-Nöthen Andrea, Tipold Andrea

机构信息

Department of Small Animal Medicine and Surgery, University of Veterinary Medicine Hannover, Hannover, Germany.

Great Swiss Mountain Dog Association for Germany e.V., München, Germany.

出版信息

Front Vet Sci. 2022 Jul 12;9:921134. doi: 10.3389/fvets.2022.921134. eCollection 2022.

Abstract

Genetic predisposition of idiopathic epilepsy (IE) has been demonstrated in individual breeds. According to the responsible breeding association in Germany, the average incidence of registered Great Swiss Mountain Dogs (GSMDs) with seizures between the years 1999 and 2019 is 2.56%, a genetic predisposition in this breed is suspected. To describe the seizure phenotype and to examine seizure causes, a retrospective, questionnaire-based study was performed. In cooperation with the Swiss Mountain Dog Association of Germany e.V. (SSV e.V.), 114 questionnaires filled in by owners of GSMD displaying seizures and filled in by their respective veterinarians between the years 2005-2021 were evaluated. Seizure characteristics, clinical and further examinations, treatment, treatment responses, and pedigree information were collected. In this study, 94 (83.06%) dogs had IE (suspected genetic epilepsy) confirmed with confidence level TIER 1, 2, or 3. The remaining 20 dogs showed the signs of structural epilepsy, reactive seizures, or epilepsy of unknown cause and were therefore excluded from further analysis. The average age at seizure onset was 28.83 months. Male GSMDs were significantly more often affected by IE than females. The most common seizure type was focal evolving into generalized seizures (64.5%). Seizures often began with vomiting, retching, or salivation. Cluster seizures (CS) (48.9%) and status epilepticus (SE) (37.2%) were observed in a large proportion of dogs. During the observation time, a total of 49 animals (52.13%) died. Out of those, 19 dogs (20.21%) were euthanized in SE or during CS and 14 dogs (14.9%) died spontaneously during CS or SE. The median age at death was 4 years, and the median survival time for the time, when the dog was suffering from seizures, was found to be 18 months. Both occurrence of CS ( = 0.0076) and occurrence of SE ( = 0.0859) had an impact on survival time. In GSMD, idiopathic epilepsy presents with a severe phenotype with frequently occurring CS and SE. This study could serve as basis for further genetic evaluations as well as to provide individual treatment recommendations.

摘要

特发性癫痫(IE)的遗传易感性已在个别犬种中得到证实。根据德国负责繁殖的协会的数据,1999年至2019年间登记的患有癫痫发作的大瑞士山地犬(GSMD)的平均发病率为2.56%,怀疑该犬种存在遗传易感性。为了描述癫痫发作表型并检查癫痫发作原因,进行了一项基于问卷的回顾性研究。与德国瑞士山地犬协会(SSV e.V.)合作,对2005年至2021年间由GSMD的主人填写并由各自兽医填写的114份癫痫发作问卷进行了评估。收集了癫痫发作特征、临床及进一步检查、治疗、治疗反应和系谱信息。在本研究中,94只(83.06%)犬被确诊为IE(疑似遗传性癫痫),置信水平为1级、2级或3级。其余20只犬表现出结构性癫痫、反应性癫痫发作或病因不明的癫痫症状,因此被排除在进一步分析之外。癫痫发作开始的平均年龄为28.83个月。雄性GSMD比雌性更常受到IE的影响。最常见的癫痫发作类型是局灶性发作演变为全身性发作(64.5%)。癫痫发作常始于呕吐、干呕或流涎。在很大一部分犬中观察到丛集性癫痫发作(CS)(48.9%)和癫痫持续状态(SE)(37.2%)。在观察期内,共有49只动物(52.13%)死亡。其中,19只犬(20.21%)在SE或CS期间实施安乐死,14只犬(14.9%)在CS或SE期间自然死亡。死亡的中位年龄为4岁,犬患癫痫发作时的中位生存时间为18个月。CS的发生( = 0.0076)和SE的发生( = 0.0859)均对生存时间有影响。在GSMD中,特发性癫痫表现为严重的表型,CS和SE频繁发生。本研究可为进一步的遗传评估以及提供个体化治疗建议提供依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afc1/9317297/11f634edcebc/fvets-09-921134-g0001.jpg

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