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Prevalence of neurodegenerative disorders in patients with esophageal achalasia
Jerie, Martin ; Vojtěch, Zdeněk (advisor) ; Šonka, Karel (referee) ; Bronský, Jiří (referee)
Introduction: Achalasia is a primary motility disorder of the esophagus due to degeneration neurons in myenteric plexus. Although the exact pathogenesis is unknown, autoimmune and neurodegenerative processes seem to be involved. We thus hypothesized that the prevalence of neurodegenerative and/or neuroinflammatory disorders (NDD) with autoimmune component could be higher among patients with achalasia and vice versa as the background pathogenetic mechanisms might be similar. Methods: This was a prospective, observational, comparative questionnaire-based study. Patients with achalasia from a gastroenterology center and patients with NDD from neurology centers in the Czech Republic were enrolled. Patients from achalasia group were then examined by neurologist and neurological patients by gastroenterologist, including further testing to confirm or rule out either NDD and achalasia, respectively. We assessed the prevalence of both achalasia and NDD and compared them with prevalences in general population. Results: A total of 150 patients with achalasia and 112 patients with NDD were enrolled. We observed an increased prevalence of NDD among patients with achalasia (6.0 % (9/150) as compared to the estimated 2.0 % prevalence of NDD in general population, p=0.003). In the NDD group, 32 out of 112 patients...
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Esophageal achalasia - etiology, pathophysiology and treatment.
Vacková, Zuzana ; Martínek, Jan (advisor) ; Balihar, Karel (referee) ; Rejchrt, Stanislav (referee)
Background: Achalasia is a primary esophageal motility disorder that can be classified into three types (I-III) based on high-resolution manometry (HRM). Exact pathogenesis is unknown, but immune-mediated processes and genetic predisposition play a role, which is supported by finding of a genetic risk variant (rs28688207 insertion) in HLA-DQB1 gene that is strongly associated with achalasia. Per-oral endoscopic myotomy (POEM) has become a standard treatment for achalasia, but the long-term efficacy, safety and impact on esophageal physiology are not fully understood. The aims of our studies were to perform the first genotype-phenotype analysis investigating the frequency of rs28688207 accross three HRM types of achalasia, to evaluate the efficacy and safety of POEM and to assess the post-POEM esophageal motility patterns. Patients and methods: These were three retrospective studies of prospectively collected data. Genotyping of the rs2868827 insertion was performed using real-time PCR in 347 patients from Czech Republic (n = 163), Germany (n = 114), Greece (n = 70). The efficacy and safety of POEM were evaluated in 133 patients treated in our center. The post-POEM esophageal motility was assessed using the Chicago Classification in 237 patients in whom HRM was performed prior to and after POEM....
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