Absence Of Esophageal Peristalsis Research Articles

Focus on Achalasia in the Omics Era.

Achalasia is a rare and complex esophageal disease of unknown etiology characterized by difficulty in swallowing due to the lack of opening of the lower esophageal sphincter and the absence of esophageal peristalsis. Recent advancements in technology for analyzing DNA, RNA and biomolecules in high-throughput techniques are offering new opportunities to better understand the etiology and the pathogenetic mechanisms underlying achalasia. Through this narrative review of the scientific literature, we aim to provide a comprehensive assessment of the state-of-the-art knowledge on omics of achalasia, with particular attention to those considered relevant to the pathogenesis of the disease. The notion and importance of the multi-omics approach, its limitations and future directions are also introduced, and it is highlighted how the integration of single omics data will lead to new insights into the development of achalasia and offer clinical tools which will allow early diagnosis and better patient management.

<i>Achalasia cardia</i>: An uncommon cause of aspiration syndrome in infancy

Achalasia is a primary oesophageal motility disorder characterized by the absence of Oesophageal peristalsis and impaired lower oesophageal sphincter (LES) relaxation in response to swallowing leading to functional obstruction at the gastroesophageal CC –BY 4.0 junction. It is unusual in childhood and extremely rare in infants. We report a case of Achalasia cardia in a twomonth bold infant treated with anterior oesophago-cardio- gastromyo to my ( Modified Heller’s procedure).

Protocol for an international multicenter randomized controlled trial assessing treatment success and safety of peroral endoscopic myotomy vs endoscopic balloon dilation for the treatment of achalasia in children.

Achalasia is a rare neurodegenerative esophageal motility disorder characterized by incomplete lower esophageal sphincter (LES) relaxation, increased LES tone and absence of esophageal peristalsis. Achalasia requires invasive treatment in all patients. Conventional treatment options include endoscopic balloon dilation (EBD) and laparoscopic Heller's myotomy (LHM). Recently, a less invasive endoscopic therapy has been developed; Peroral Endoscopic Myotomy (POEM). POEM integrates the theoretical advantages of both EBD and LHM (no skin incisions, less pain, short hospital stay, less blood loss and a durable myotomy). Our aim is to compare efficacy and safety of POEM vs. EBD as primary treatment for achalasia in children. This multi-center, and center-stratified block-randomized controlled trial will assess safety and efficacy of POEM vs EBD. Primary outcome measure is the need for retreatment due to treatment failure (i.e. persisting symptoms (Eckardt score > 3) with evidence of recurrence on barium swallow and/or HRM within 12 months follow-up) as assed by a blinded end-point committee (PROBE design). This RCT will be the first one to evaluate which endoscopic therapy is most effective and safe for treatment of naïve pediatric patients with achalasia.

LncRNA expression in idiopathic achalasia: New insight and preliminary exploration into pathogenesis.

Idiopathic achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES). However, the pathogenesis of idiopathic achalasia remains unclear. To further understand the pathogenesis, we conducted lncRNA and mRNA microarray analyses. LES specimens from 5 patients and 4 controls were used for microarray. Potential target genes with significantly changed lncRNA and mRNA were predicted using cis/trans-regulatory algorithms, followed by the Gene Ontology and KEGG pathway enrichment analysis to understand the biophysical effect. Finally, 7,133 significantly dysregulated mRNAs (3,136 increased and 3,997 decreased), along with 6,892 significantly dysregulated lncRNAs (4,900 increased and 1,992 decreased). Biophysical function analysis revealed that the cell adhesion molecule (CAM) pathway was a common pathway. The predicted lncRNA targets of NRXN1 (Down FC: 9.07), NTNG2 (UP FC: 2.75), CADM1 (Down FC: 2.26), NLGN1 (Down FC: 4.60), NEGR1 (Down FC: 2.335), CD22 (Down FC: 5.62), HLA-DQB1 (Down FC: 5.06), and HLA-DOA (Down FC: 2.31) were inputted in this pathway, which was mainly located in the synapse part of the neural system and immune system. Our study demonstrates the lncRNAs and corresponding mRNAs that may play important roles in idiopathic achalasia.

Bradycardia secondary to achalasia cardia: A case report

Achalasia cardia (AC) is a primary motility disorder of the esophagus characterized by the absence of oesophageal peristalsis and incomplete relaxation of the lower oesophageal sphincter. AC is known to be associated with symptomatic bradycardia, dizziness and rarely swallow syncope.

Massively dilated esophagus from long standing achalasia in a female child

Achalasia is an esophageal motility disorder that is characterized by absence of esophageal peristalsis and failure of the lower esophageal sphincter to relax resulting in abnormal proximal esophageal dilatation. The pathology is rare in pediatric age group with less than 5% of patients present under 15 years of age. Children usually present with dysphagia to solid and liquid foods, and symptoms may progress to chest pain, vomiting, aspiration and weight loss. In children, the pathology is most often misdiagnosed with gastroesophageal reflux disease which leads to a delay in the diagnosis. Definitive diagnosis is established by barium swallow and high resolution esophageal manometry. We present an extremely rare observation of massive dilatation of the esophagus secondary to a long standing achalasia in an eight years old female child. We discuss the mode of presentation as well as the diagnostic and therapeutic approach, and highlight the importance of early diagnosis of this progressive disorder and its impact on management and outcome.

S3570 One and Done? Revisiting Need for Repeat Esophageal Manometry in Patients With Persistent Symptoms

Introduction: Achalasia is a motility disorder characterized by the absence of esophageal peristalsis and failure of the LES to relax in response to swallowing. High resolution manometry (HRM) has been established as the gold standard for diagnosis; however, the utility of repeat manometry has been investigated in only a limited number of reports. Whether repeat manometry provides new information or changes the diagnosis remains unclear Case Description/Methods: 70y/o female with GERD, PUD, cervical spondylosis, and rheumatoid arthritis, presented in 2015 with dysphagia to solids. Initial work-up included EGD which showed an esophageal web. She was started on acid suppression therapy without improvement. In 2017 she underwent HRM which showed an abnormal median integrated relaxation pressure of 39.6(n< 15mmHg) and an elevated upper esophageal sphincter relaxation pressure of 13.7(n< 12mmHg). 70% of swallows were failed with 30% of swallows peristaltic with normal distal contractile integral. There was incomplete bolus clearance in all swallows. Patient met Chicago Classification 3.0 criteria for esophagogastric junction outflow obstruction. However, given the large presence of non-peristaltic swallows, the possibility of an evolving achalasia was considered. Due to worsening symptoms, patient underwent barium esophagram (BE) ;in 2018 which did not suggest achalasia. There was however, small residual of contrast in the distal esophagus with delayed emptying suggesting a motility disorder. She then underwent video swallow study which was unrevealing. She again underwent BE; in 2019 revealing a prominent cricopharyngeus muscle causing narrowing of the esophageal lumen during the swallowing phase. She subsequently underwent repeat HRM which was consistent with Type II Achalasia per Chicago classification 3.0. LES pressure was elevated at 43.8 mmHg, UES pressure was normal (6.2 mmHg). 100% of all contractions had pan esophageal pressurization deeming them non-peristaltic. Patient had incomplete bolus clearance in all swallows. Of note, patient was not on any medications, including benzodiazepines or opioids, that would impact motility studies. Due to persistent symptoms, patient underwent peroral endoscopic myotomy with significant improvement of symptoms. Discussion: HRM is the gold standard for identifying causes of esophageal dysmotility. In patients whose symptoms progress over time, there is high utility in performing repeat manometry to evaluate the cause of their dynamic symptoms, as treatment options may change

Advances in The Diagnosis and Treatment of Achalasia of The Cardia: a Review.

Idiopathic achalasia is an esophageal motor disorder characterized by the loss of the lower esophageal sphincter ganglion, resulting in impaired lower esophageal relaxation and absence of esophageal peristalsis. Patients commonly present with progressive dysphagia accompanied by reflux, heartburn, retrosternal pain, and severe weight loss. Diagnosis is primarily based on the patient’s chief complaints, barium esophagography, and the most recent high-resolution manometry. Endoscopic assessment and endoscopic ultrasonography also have significant value with regard to the exclusion of esophageal anatomical lesions, neoplastic diseases, and pseudoachalasia. However, as most patients with achalasia demonstrate a gradual onset, early diagnosis is difficult. Currently, treatment of idiopathic achalasia, including pneumatic dilation, stent placement, and surgical myotomy, is aimed at reducing lower esophageal sphincter pressure and relieving the symptoms of dysphagia. Peroral endoscopic myotomy has gradually become the mainstream treatment because it causes less trauma and has a rapid recovery rate. This article reviews the main methods of diagnosis and treatment of achalasia, with an emphasis on the potential of peroral endoscopic myotomy and the advancements of immunotherapy for achalasia.

A195 THE CANADIAN POEM EXPERIENCE. THE FIRST 50 PATIENTS

Abstract Background Achalasia is a disorder of esophageal motility characterized by a loss of enteric neurons resulting in impaired relaxation of the lower esophageal sphincter and absence of esophageal peristalsis. There are no current treatments that allow for regeneration of the enteric neurons. Interventions focus primarily on lowering the LES pressure to provide symptom relief and improve quality of life. Peroral endoscopic myotomy (POEM) has emerged as a less invasive technique for performing myotomy in patients with achalasia. Aims This study aims to assess the safety and efficacy of POEM in a Canadian tertiary care center. Methods All consecutive patients who underwent POEM between March 2016 and May 2018 at a tertiary center were included. The primary outcome of the study was clinical success rate of POEM defined as a post-POEM Eckardt score ≤ 3 at ≥ 3 months. Adverse events were recorded according to the Clavien-Dindo grading system. Results A total of 50 consecutive patients underwent 51 POEM procedures with a mean procedure length of 85.6±29.6 minutes. Post-POEM Eckardt scores of ≤ 3 at ≥ 3 months was achieved in 98% of patients. The incidence of pathologic reflux post-poem was 23%. The median length of hospital stay was 1 day (range 1–2 days). No major adverse events occurred. Conclusions POEM is a safe and effective procedure for the treatment of achalasia. At a median follow up of 19.5 months, 98% of patients had sustained clinical response (Eckardt score ≤ 3). Stages of POEM. a) Injection and mucosal incision, b) submucosal tunneling c) completed tunnel, view from just above the lower esophageal sphincter (main), gastric side (right upper) and esophageal side (right lower) d) myotomy e[i]) completed myotomy f) closure with hemostatic clips. Funding Agencies None

PS01.014: DESCRIPTION OF ACHALASIA PATIENTS IN CUBA: NINE-YEAR EXPERIENCE

Abstract Background Achalasia is a primary neurodegenerative disease of the esophagus characterized by loss of function of the lower esophageal sphincter (LES) and aperistalsis of the body of the esophagus. Among the diagnostic elements, conventional or high-resolution esophageal manometry is the ‘gold standard’ for diagnosis. In this study, our objective was to investigate the epidemiology and characteristics of patients with Achalasia, seen at the CNCMA, Cuba. Methods A retrospective, descriptive and observational study was performed on patients with Achalasia, diagnosed through conventional esophageal manometry, from January 2006 to December 2015. The database of patients diagnosed with the disease is analyzed at the center's Motility Laboratory. Esophageal manometries were performed by the perfusion method, with Medtronic equipment, 4 register channel catheters, at 5 cm from each other, with Polygram software, from 2005 to 2008 and from then on with catheters Zynetic, Alpine, and Polygram.Net software version 4.1.1322. The consent was asked to performance the test and the scientific use of the results. Results 332 patients were diagnosed with achalasia through manometry. More than half of patients with achalasia in this study were female, over 40 years. Patients had no proved associations with other diseases. By conventional esophageal manometry, the typical features were poor relaxation, normal basal pressure of the lower esophageal sphincter and absence of esophageal peristalsis. Conclusion Conventional esophageal manometry was useful to stablish the diagnostic of Achalasia, showing the typical features of the disease. Disclosure All authors have declared no conflicts of interest.

Esophageal Achalasia: Pathophysiology, Clinical Presentation, and Diagnostic Evaluation

Esophageal achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and failure of the lower esophageal sphincter to relax in response to swallowing. These abnormalities lead to impaired emptying of food from the esophagus into the stomach with resulting food stasis. Most patients experience severe dysphagia, and regurgitation can lead to aspiration and respiratory problems. Consequently, the quality of life of patients affected by achalasia is severely impacted. A thorough evaluation with upper endoscopy, barium swallow, and esophageal manometry is mandatory to establish the diagnosis and plan the optimal treatment. In selected patients, an ambulatory pH monitoring is recommended to distinguish between gastroesophageal reflux disease and achalasia.

Preliminary study of 1940 nm thulium laser usage in peroral endoscopic myotomy for achalasia.

Esophageal achalasia is a type of motility disorder characterized by incomplete relaxation of lower esophageal sphincter (LES) and absence of esophageal peristalsis. Peroral endoscopic myotomy (POEM) is a new treatment option for achalasia that is less invasive, more effective, and safe as compared to surgery. High-frequency electrotome is commonly used in POEM, but takes longer time to make the tunnel in the esophagus and causes many complications. The thulium laser decreases the risk of bleeding and perforation in endoscopy but has not been reported in digestive diseases, especially in POEM. Therefore, the aim of this study is to evaluate the feasibility of the 1940 nm thulium laser in POEM. From March 2015 to August 2015, five patients with achalasia at the Digestive department, Beijing Friendship Hospital, Capital Medical University, Beijing, China were included. Before the procedure, the patients' gender, age, and duration of symptoms were recorded. Eckardt symptom score and LES thickness, which measured by endoscopic ultrasonography, were recorded. While the subtypes of achalasia (according to the Chicago classification), lower esophagus sphincter resting pressure (LESRP) and integrated relaxation pressure (IRP) were measured by HRM for all patients. Barium esophagram was also used to rule out anatomical lesions, esophageal varices, or neoplasia, which may cause similar symptoms. All examinations were performed one week before POEM. POEM was performed with the 1940 nm thulium laser under general anesthesia. Eckardt score, procedure duration, myotomy length, and complications were recorded one week after POEM. All the patients were followed-up at two weeks and four weeks after POEM. POEM was successfully performed in all five patients. The mean age of the patients was 38.8 years (24-54 years). Achalasia subtypes were type I (n=1), II (n=2), and III (n=2). The operation duration was 186, 180, 111, 75, and 126 minutes for the five cases. Pre/postprocedure Eckardt scores were 3/0, 7/0, 5/1, 6/0, and 9/0. Pre/postprocedure LESRP (mmHg) were 45.3/26.4, 18.0/1.1, 25.8/10.4, 16.5/11.2, and 24.2/20.8. Pre/postprocedure IRP (mmHg) were 27.3/15.5, 15.4/4.2, 5.7/6.8, 15.5/10.1, and 13.1/14, respectively. No adverse events occurred during the procedure. After POEM, subcutaneous emphysema occurred in case 1 on the first day, which relieved spontaneously after two days without special intervention. Infection occurred in case 5 on the day of POEM was healed with antibiotics three days later. The 1940 nm thulium laser is feasible for POEM procedure. Further studies are needed to determine whether the 1940 nm thulium laser is better than high-frequency electrotome.

Mégaœsophage: un cas historique

Achalasia, also known as cardiospasm or megaoesophagus is a rare disorder of unknown origin. It is a primary motor disorder of the esophagus characterized by the absence of the esophageal peristalsis and by an incomplete or an absent relaxation of the lower oesophageal sphincter. Common symptoms include dysphagia, regurgitations and retrosternal pain. At an advanced level, fibroscopy can show a dilation of the lower esophagus and a shrinkage that can be easily passed through with a lifting at the level of the cardia. Oesogastroduodenal transit shows esophageal dilation and allows to estimate esophageal evacuation speed. Esophageal manometry is the gold standard diagnostic tool because it can show the absence of esophageal body peristalsis, the elevation of lower esophageal sphincter pressure and the absence of complete relaxation of the lower esophageal sphincter during swallowing. The different therapeutic strategies aim to reduce lower oesophageal sphincter pressure. We report the case of a patient with immense extension of the oesophagus with typical achalasia appearance. The patient aged 33 years had capricious low dysphagia evolving since childhood associated with regurgitations and retrosternal pain within a context of a 10kg weight loss. Clinical examination was unremarkable. Oesophagogastroduodenoscopy (OGD) was performed showing very dilated atonic oesophagus with food stasis and very tight cardia easily passed through with a lifting. EGD-transit showed immense dilation of the oesophagus without oesogastric junction abnormality suggesting achalasia. Surgical treatment was recommended.

Per Oral Endoscopic Myotomy in Children with Achalasia Cardia.

Background/AimsAchalasia cardia (AC) is a motility disorder, characterized by impaired lower esophageal sphincter relaxation and absence of esophageal peristalsis. AC is rare in children with unclear optimum management strategies. Per oral endoscopic myotomy (POEM) is a novel technique for management of achalasia with encouraging results in adult patients. The efficacy and safety of POEM is not known for pediatric AC. The aim of our study was to evaluate the safety and efficacy of POEM in children with achalasia cardiaMethodsThe data of all children (< 18 years) who underwent POEM at our center was retrospectively analysed. Symptoms were analysed using a validated score (Eckardt score) at regular predefined intervals. Objective parameters including high-resolution manometry, timed barium swallow and esophagogastroduodenoscopy were assessed before the procedure and at 1-year follow-up. Clinical success was defined as an Eckardt score ≤ 3.ResultsA total of 15 children underwent POEM during the specified period. Ten out of 15 (10/15) completed 1-year follow-up. Median operative time was 100 (38–240) minutes. Mean pre and post procedure LES pressure were 36.64 ± 11.08 mmHg and 15.65 ± 5.73 mmHg, respectively (P = 0.001). Mean Eckardt score before and after the POEM was 7.32 ± 1.42 and 1.74 ± 0.67, respectively (P = 0.001). Mean percentage improvement in barium emptying at 5 minutes was 63.70 ± 4.46%. All children had complete resolution of symptoms at 1 year. Median weight gain of children at 1 year was 0.65 kg (range, 0.0–4.6).ConclusionsPOEM is safe and effective for children and adolescents with achalasia. Future trials with larger sample size are warranted to establish its efficacy in pediatric AC.

Changes in the diagnosis and treatment of achalasia.

Esophageal achalasia is a primary esophageal motility disorder of unknown origin characterized by the absence of esophageal peristalsis and failure of the lower esophageal sphincter (LES) to relax appropriately in response to swallowing. These abnormalities lead to impaired emptying of food from the esophagus into the stomach with consequent food stasis. The last two decades have seen a significant change in the understanding of the clinical presentation of this disease, and in its diagnosis and treatment.

G446(P) An Unusual cause of Chronic Cough in a 15 year old girl

AimsCoughing is one of the most common paediatric presentations both in primary and secondary care. We present an unusual cause of chronic cough in a teenager.MethodA 15 year old girl...

Spontaneous Perforation of the Esophagus in a Patient With Achalasia

Esophageal perforation in achalasia is rare. The risk would mainly follow pneumatic dilatation, and spontaneous perforation has not been described. We report a case of spontaneous rupture of the midesophagus in a 56-year-old woman with treated achalasia in whom the perforation occurred during a meal and was not preceded by emesis. A gastrografin swallow confirmed extravasation of contrast medium from the esophagus, and endoscopy revealed significant esophageal food stasis, consistent with achalasia, with a large tear in the midesophagus and gross mediastinal contamination. She subsequently underwent a three-stage esophagectomy with an uneventful recovery.

AB0230 Anorectal involvement in very early systemic sclerosis (SSC)

BackgroundIn SSc anorectal dysfunction is reported in 50-70% with a high impact on patients’ quality of life.ObjectivesEvaluation of anorectal involvement and its correlation with esophageal involvement in very early SSc.Methods56...

Evaluation of esophageal high-resolution manometry combined with 24-hour pH monitor in detecting endoscopy-negative chest pain of esophageal origin

Objective To investigate esophageal high-resolution manometry （HRM） combined with 24-hour pH monitor in detecting endoscopy-negative chest pain of esophageal origin. Methods Test results of esophageal HRM combined with 24-hour pH monitor from 40 patients with recurring chest pain of esophageal origin were retrospectively analyzed. Results In 40 patients, 27 （67. 5% ） were diagnosed as gastroesophageal reflux disease with an average DeMeester scores at 18.3 ± 3.4, including 19 patients with esophageal body dismotility and 11 with reduced lower esophageal sphincter pressure （LESP） at a mean reduction of 5.7 mm Hg. There were 6 cases （ 15.0% ） of achalasia, in which 1 （2. 5% ） was type Ⅰ and 5 （ 12. 5% ） was type Ⅱ , with an average relaxation ratio of lower esophageal sphincter （RRLES） at （ 30. 1 ± 2. 3 ） %. There were 4 cases of diffuse esophageal spasm （DES）, with an average contraction frontal velocity （CFV） of 12. 3 ± 2. 4 cm.s^- 1 and abnormal contraction waves in esophageal body, spontaneous synchronous contraction waves were observed in 3 of 4 patients LESP increased in 1 patient with DES and remained normal in other 3. RRLES decreased in 2 cases with DES and remained normal in other 2. There were 2 cases （5. 0% ） of nutcracker esophagus, with an average distal contractile integral at 6745.5 ± 175.2 mm Hg.cm^-1 .s^-1 and an average CFV at4. 3 ±0. 4 cm.s^-1. There was 1 case （2. 5% ） with absence of esophageal peristalsis, with a low LESP at 2 mmHg and DeMeester scores at 38. 3. The patient was finally diagnosed as systemic sclerosis according to esophageal biopsy and other auxiliary examination. Conclusion HRM combined with 24-hour pH monitor is valuable in detecting endoscopy-negative chest pain of esophageal origin. Key words: Chest pain; Esophageal high-resolution manometry; Ambulatory esophageal pHmonitoring; Diagnosis

Laparoscopic treatment for esophageal achalasia: experience at a single center.

Achalasia is a not frequent esophageal disorder characterized by the absence of esophageal peristalsis and incomplete relaxation of the lower esophageal sphincter (LES). Its cause is unknown. The aim of treatment is to improve the symptoms. We report the results of the treatment of this condition achieved in one center. We conducted a retrospective study of patients with esophageal achalasia. In the period 2010-2012 we observed 64 patients, of whom 19 were referred for medical treatment. Three of the remaining patients underwent botulinum toxin injection, 17 underwent multiple endoscopic dilation procedures and 25 underwent laparoscopic surgery. There were no complications in the group undergoing endoscopic therapy, but symptom remission was only temporary. Patients undergoing surgery showed a significant improvement in symptoms and no recurrence throughout the follow-up period, that is still ongoing (3 years). There were no major complications in any case and no morbidity or mortality. Surgical treatment of esophageal achalasia with laparoscopic Heller myotomy and Dor fundoplication gives the best and longest-lasting results in suitably selected patients. The extension of the myotomy and reduction in LES pressure are the most important parameters to achieve a good result.