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Neurogastroenterology and Motility Oct 2023Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically...
BACKGROUND
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of gastrointestinal motor dysfunction have not been systematically evaluated. The objective of this study was to describe gastrointestinal motor dysfunction in MNGIE using state-of-the art techniques and to evaluate the relationship between motor abnormalities and symptoms.
METHODS
Prospective study evaluating gastrointestinal motor function and digestive symptoms in all patients with MNGIE attended at a national referral center in Spain between January 2018 and July 2022.
KEY RESULTS
In this period, five patients diagnosed of MNGIE (age range 16-46 years, four men) were evaluated. Esophageal motility by high-resolution manometry was abnormal in four patients (two hypoperistalsis, two aperistalsis). Gastric emptying by scintigraphy was mildly delayed in four and indicative of gastroparesis in one. In all patients, small bowel high-resolution manometry exhibited a common, distinctive dysmotility pattern, characterized by repetitive bursts of spasmodic contractions, without traces of normal fasting and postprandial motility patterns. Interestingly, objective motor dysfunctions were detected in the absence of severe digestive symptoms.
CONCLUSIONS AND INFERENCES
MNGIE patients exhibit a characteristic motor dysfunction, particularly of the small bowel, even in patients with mild digestive symptoms and in the absence of morphological signs of intestinal failure. Since symptoms are not predictive of objective findings, early investigation is indicated.
Topics: Male; Humans; Adolescent; Young Adult; Adult; Middle Aged; Prospective Studies; Intestinal Pseudo-Obstruction; Mitochondrial Encephalomyopathies; Mutation; Gastrointestinal Diseases
PubMed: 37448106
DOI: 10.1111/nmo.14643 -
Neurogastroenterology and Motility Jun 2024Ineffective esophageal motility (IEM) is the most frequently diagnosed esophageal motility abnormality and characterized by diminished esophageal peristaltic vigor and... (Review)
Review
Ineffective esophageal motility (IEM) is the most frequently diagnosed esophageal motility abnormality and characterized by diminished esophageal peristaltic vigor and frequent weak, absent, and/or fragmented peristalsis on high-resolution esophageal manometry. Despite its commonplace occurrence, this condition can often provoke uncertainty for both patients and clinicians. Although the diagnostic criteria used to define this condition has generally become more stringent over time, it is unclear whether the updated criteria result in a more precise clinical diagnosis. While IEM is often implicated with symptoms of dysphagia and gastroesophageal reflux disease, the strength of these associations remains unclear. In this review, we share a practical approach to IEM highlighting its definition and evolution over time, commonly associated clinical symptoms, and important management and treatment considerations. We also share the significance of this condition in patients undergoing evaluation for anti-reflux surgery and consideration for lung transplantation.
PubMed: 38837280
DOI: 10.1111/nmo.14839 -
Dysphagia Dec 2023Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely...
Dysphagia is a common symptom in children with Down syndrome and is conventionally evaluated with imaging and endoscopy; high-resolution manometry is not routinely utilized. The aim of this study was to describe and correlate pharyngeal and esophageal manometry findings with contrast studies and endoscopy in patients with Down syndrome and dysphagia. Electronic medical records of patients with Down syndrome with dysphagia seen at our center between January 2008 and January 2022 were reviewed. Data collected included demographics, co-morbidities, symptoms, imaging, endoscopy, and manometry. Twenty-four patients with Down syndrome [median age of 14.9 years (IQR 7.6, 20.5), 20.8% female] met inclusion criteria. Common presenting symptoms of dysphagia included vomiting or regurgitation in 15 (62.5%) patients, and choking, gagging, or retching in 10 (41.7%) patients. Esophageal manometry was abnormal in 18/22 (81.2%) patients. The most common findings were ineffective esophageal motility in 9 (40.9%) followed by esophageal aperistalsis in 8 (36.4%) patients. Rumination pattern was noted in 5 (22.8%) patients. All 6 (25%) patients who previously had fundoplication had esophageal dysmotility. Strong agreement was noted between upper gastrointestinal studies and high-resolution esophageal manometry (p = 1.0) but no agreement was found between pharyngeal manometry and video fluoroscopic swallow studies (p = 0.041). High-resolution pharyngeal and esophageal manometry provide complementary objective data that may be critical in tailoring therapeutic strategies for managing patients with Down syndrome with dysphagia.
Topics: Child; Humans; Female; Male; Deglutition Disorders; Down Syndrome; Esophageal Motility Disorders; Manometry
PubMed: 37171663
DOI: 10.1007/s00455-023-10586-x -
Revista Espanola de Enfermedades... Dec 2023A 72-year-old woman was referred from primary care to the gastroenterology clinic because of heartburn and occasional dysphagia for the last 8 years, with some isolated...
A 72-year-old woman was referred from primary care to the gastroenterology clinic because of heartburn and occasional dysphagia for the last 8 years, with some isolated food regurgitation events and no other warning signs; she is currently asymptomatic on omeprazole. Gastroscopy revealed a dilated esophagus and food remnants with inability to reach the gastric lumen, which led to the suspicion of achalasia. The study was completed with pH-metry, which found no pathological reflux; esophageal manometry, with absence of esophageal motor abnormalities; and barium swallow, which revealed a large diverticulum on the posterior wall of the lower third of the esophagus, which had food remnants but no other changes or evidence of achalasia. Given these findings, a repeat gastroscopy was carried out that revealed a large diverticulum in the distal third of the esophagus that occluded 50 % of the esophageal lumen, with a length of 4-5 cm and abundant semi-liquid food remnants; upon aspiration of the latter a whitish mucosa with erythematous areas was revealed, as well as a 1.5-cm sliding hiatal hernia. No changes were found on advancing to the second duodenal portion. In view of the above findings and symptoms, the patient was referred to the surgery department to be evaluated for diverticulectomy.
Topics: Female; Humans; Aged; Esophageal Achalasia; Diverticulum, Esophageal; Gastroesophageal Reflux; Manometry; Diverticulum
PubMed: 36896915
DOI: 10.17235/reed.2023.9518/2023 -
Laryngo- Rhino- Otologie Nov 2023Esophageal motility disorders are diseases in which there are malfunctions of the act of swallowing due to a change in neuromuscular structures. The main symptom is...
Esophageal motility disorders are diseases in which there are malfunctions of the act of swallowing due to a change in neuromuscular structures. The main symptom is therefore dysphagia for solid and/or liquid foods, often accompanied by symptoms such as chest pain, regurgitation, heartburn, and weight loss. Esophageal manometry is the gold standard in diagnostics. Endoscopy and radiology serve to exclude inflammatory or malignant changes. With the introduction of high-resolution esophageal manometry (HRM), the diagnosis of esophageal motility disorders has improved and led to a new classification with the Chicago Classification, which has been modified several times in the last decade, most recently in 2020 with the Chicago Classification v4.0. Compared to the previous version 3.0, there are some important changes that are presented based on the most important esophageal motility disorders in everyday clinical practice.
Topics: Humans; Esophageal Motility Disorders; Deglutition Disorders; Deglutition; Endoscopy; Manometry
PubMed: 37263277
DOI: 10.1055/a-1949-3583 -
Digestion 2024Belching disorders and rumination syndrome (RS) are disorders of gut-brain interaction (DGBIs) in Rome IV. Belching disorders are composed of excessive gastric belching... (Review)
Review
BACKGROUND
Belching disorders and rumination syndrome (RS) are disorders of gut-brain interaction (DGBIs) in Rome IV. Belching disorders are composed of excessive gastric belching (GB) and supragastric belching (SGB). Excessive GB is related to physiological phenomenon whereas excessive SGB and RS are behavioral disorders.
SUMMARY
A recent large internet survey found that prevalence of belching disorders and RS were 1% and 2.8%, respectively. It has been recognized that not a few patients with two behavioral disorders, excessive SGB and RS, could be misdiagnosed as proton pump inhibitors (PPI)-refractory gastroesophageal reflux disease (GERD). In patients with reflux symptoms, distinguishing these conditions is essential because they need psychological treatment (i.e., cognitive behavioral therapy (CBT) rather than acid suppressants. Clinicians should take a medical history meticulously first to identify possible excessive SGB and/or RS. High-resolution impedance manometry and/or 24-h impedance-pH monitoring can offer an objective diagnosis of the disorders. Several therapeutic options are available for excessive SGB and RS. The first-line therapy should be CBT using diaphragmatic breathing that can stop the behaviors involving complex muscle contraction (e.g., abdominal straining) to generate SGB or rumination. Overlap with eating disorders and/or other DGBIs such as functional dyspepsia can make management of the behavioral disorders challenging since such coexisting conditions often require additional treatments.
KEY MESSAGES
Excessive SGB and RS are not unusual conditions. It is important to raise awareness of the behavioral disorders for appropriate management.
Topics: Humans; Eructation; Rumination Syndrome; Gastroesophageal Reflux; Dyspepsia; Stomach; Manometry
PubMed: 37844547
DOI: 10.1159/000534092 -
Surgical Endoscopy Jan 2024The size of a hiatal hernia (HH) is a key determinant of the approach for surgical repair. However, endoscopists will often utilize subjective terms, such as "small,"...
INTRODUCTION
The size of a hiatal hernia (HH) is a key determinant of the approach for surgical repair. However, endoscopists will often utilize subjective terms, such as "small," "medium," and "large," without any standardized objective correlations. The aim of this study was to identify HHs described using objective axial length measurements versus subjective size allocations and compare them to their corresponding manometry and barium swallow studies.
METHODS AND PROCEDURES
Retrospective chart reviews were conducted on 93 patients diagnosed endoscopically with HHs between 2017 and 2021 at Newton-Wellesley Hospital. Information was collected regarding their HH subjective size assessment, axial length measurement (cm), manometry results, and barium swallow readings. Linear regression models were used to analyze the correlation between the objective endoscopic axial length measurements and manometry measurements. Ordered logistic regression models were used to correlate the ordinal endoscopic and barium swallow subjective size allocations with the continuous axial length measurements and manometry measurements.
RESULTS
Of the 93 endoscopy reports, 42 included a subjective size estimate, 38 had axial length measurement, and 12 gave both. Of the 34 barium swallow reads, only one gave an objective HH size measurement. Axial length measurements were significantly correlated with the manometry measurements (R = 0.0957, p = 0.049). The endoscopic subjective size estimates were also closely related to the manometry measurements (R = 0.0543, p = 0.0164). Conversely, the subjective size estimates from barium swallow reads were not significantly correlated with the endoscopic axial length measurements (R = 0.0143, p = 0.366), endoscopic subjective size estimates (R = 0.0481, p = 0.0986), or the manometry measurements (R = 0.0418, p = 0.0738). Mesh placement was significantly correlated to pre-operative endoscopic axial length measurement (p = 0.0001), endoscopic subjective size estimate (p = 0.0301), and barium swallow read (p = 0.0211). However, mesh placement was not significantly correlated with pre-operative manometry measurements (0.2227).
CONCLUSIONS
Endoscopic subjective size allocations and objective axial length measurements are associated with pre-operative objective measurements and intra-operative decisions, suggesting both can be used to guide clinical decision making. However, including axial length measurements in endoscopy reports can improve outcomes reporting.
Topics: Humans; Hernia, Hiatal; Barium; Retrospective Studies; Manometry; Endoscopy, Gastrointestinal
PubMed: 37985491
DOI: 10.1007/s00464-023-10562-4 -
Major mixed motility disorders: An important subset of esophagogastric junction outflow obstruction.Neurogastroenterology and Motility Jul 2023Esophagogastric junction outflow obstruction (EGJOO) is an esophageal motility disorder characterized by a lack of relaxation of the esophagogastric junction (EGJ), with... (Review)
Review
BACKGROUND
Esophagogastric junction outflow obstruction (EGJOO) is an esophageal motility disorder characterized by a lack of relaxation of the esophagogastric junction (EGJ), with preserved esophageal body peristalsis. We propose new terminology for the coexistence of EGJOO with hypercontractile esophagus and distal esophageal spasm as a major mixed motility disorder (MMMD), and normal peristalsis or a minor disorder of peristalsis such as ineffective esophageal motility with EGJOO as isolated or ineffective EGJOO (IEGJOO).
METHODS
We reviewed prior diagnoses of EGJOO, stratified diagnoses as IEGJOO or MMMD, and compared their symptomatic presentations, high-resolution manometry (HRM) and endoluminal functional lumen imaging probe (EndoFLIP) metrics, and treatment responses at 2-6 months of follow-up.
RESULTS
Out of a total of 821 patients, 142 met CCv3 criteria for EGJOO. Twenty-two were confirmed by CCv4 and EndoFLIP as having EGJOO and were clinically managed. Thirteen had MMMD, and nine had IEGJOO. Groups had no difference in demographic data or presenting symptoms by Eckardt score (ES). HRM showed MMMD had greater distal contractile integral, frequency of hypercontractile swallows, and frequency of spastic swallows, and greater DI by EndoFLIP. Patients with MMMD showed greater reduction in symptoms after LES-directed intervention when measured by ES compared with IEGJOO (7.2 vs. 4.0).
CONCLUSION
Patients with MMMD and IEGJOO present similarly. Detectable differences in HRM portend different responses to endoscopic therapy. Because patients with MMMD have greater short-term prognosis, they should be considered a different diagnostic classification to guide therapy.
Topics: Humans; Esophageal Motility Disorders; Benchmarking; Esophagogastric Junction; Manometry; Muscle Contraction; Stomach Diseases
PubMed: 37309619
DOI: 10.1111/nmo.14555 -
Tzu Chi Medical Journal 2024Gastroesophageal reflux disease (GERD), a prevalent condition with multifactorial pathogenesis, involves esophageal motor dysmotility as a key contributing factor to its... (Review)
Review
Gastroesophageal reflux disease (GERD), a prevalent condition with multifactorial pathogenesis, involves esophageal motor dysmotility as a key contributing factor to its development. When suspected GERD patients have an inadequate response to proton-pump inhibitor (PPI) therapy and normal upper endoscopy results, high-resolution manometry (HRM) is utilized to rule out alternative diagnosis such as achalasia spectrum disorders, rumination, or supragastric belching. At present, HRM continues to provide supportive evidence for diagnosing GERD and determining the appropriate treatment. This review focuses on the existing understanding of the connection between esophageal motor findings and the pathogenesis of GERD, along with the significance of esophageal HRM in managing GERD patients. The International GERD Consensus Working Group introduced a three-step method, assessing the esophagogastric junction (EGJ), esophageal body motility, and contraction reserve with multiple rapid swallow (MRS) maneuvers. Crucial HRM abnormalities in GERD include frequent transient lower esophageal sphincter relaxations, disrupted EGJ, and esophageal body hypomotility. Emerging HRM metrics like EGJ-contractile integral and innovative provocative maneuver like straight leg raise have the potential to enhance our understanding of factors contributing to GERD, thereby increasing the value of HRM performed in patients who experience symptoms suspected of GERD.
PubMed: 38645779
DOI: 10.4103/tcmj.tcmj_209_23 -
Journal of Gastroenterology and... Nov 2023Absent contractility (AC) and ineffective esophageal motility (IEM) are esophageal hypomotility disorders diagnosed using high-resolution manometry (HRM). Patient...
BACKGROUND AND AIM
Absent contractility (AC) and ineffective esophageal motility (IEM) are esophageal hypomotility disorders diagnosed using high-resolution manometry (HRM). Patient characteristics and disease course of these conditions and differential diagnosis between AC and achalasia are yet to be elucidated.
METHODS
A multicenter study involving 10 high-volume hospitals was conducted. Starlet HRM findings were compared between AC and achalasia. Patient characteristics including underlying disorders and disease courses were analyzed in AC and IEM.
RESULTS
Fifty-three patients with AC and 92 with IEM were diagnosed, while achalasia was diagnosed in 1784 patients using the Chicago classification v3.0 (CCv3.0). The cut-off integrated relaxation pressure (IRP) value at 15.7 mmHg showed maximum sensitivity (0.80) and specificity (0.87) for differential diagnosis of AC from type I achalasia. While most ACs were based on systemic disorders such as scleroderma (34%) and neuromuscular diseases (8%), 23% were sporadic cases. The symptom severity of AC was not higher than that of IEM. Regarding the diagnosis of IEM, the more stringent CCv4.0 excluded 14.1% of IEM patients than the CCv3.0, although patient characteristics did not change. In patients with the hypomotile esophagus, concomitance of reflux esophagitis was associated with low distal contractile integral and IRP values. AC and IEM transferred between each other, paralleling with the underlying disease course, although no transition to achalasia was observed.
CONCLUSION
A successful determination of the optimal cut-off IRP value was achieved using the starlet HRM system to differentiate AC and achalasia. Follow-up HRM is also useful for differentiating AC from achalasia. Symptom severity may depend on underlying diseases instead of hypomotility severity.
Topics: Humans; Esophageal Achalasia; Esophageal Motility Disorders; Japan; Manometry
PubMed: 37391859
DOI: 10.1111/jgh.16268