Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Achalasia Cardia is an idiopathic esophageal motor disorder distinguished by the loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter. The oral manifestation of the disease is dental erosion caused by the regurgitation of the gastric contents and vomiting. A female patient aged 14 years reported to the Department of Prosthodontics, Lenora Institute of Dental Sciences, with complaints concerning aesthetics and pain in relation to several teeth. Patient gave history of loss of tooth structure over the past few years with associated sensitivity and pain in several teeth. Patient also gave history of inability to consume sufficient amount of food owing to the repeated vomiting. This paper aims to present a rare case report of achalasia cardia by rehabiliting the remaining teeth with overlay denture.
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PMID:Prosthetic rehabilitation in patient with achalasia cardia - A rare case report. 2758 29

We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age. Diagnosis was based on clinical presentation and laboratory findings. She is the first patient from the Czech Republic with genetic confirmation of Allgrove syndrome. This patient is one of about 100 cases described in the literature and one of the few patients with all the main typical clinical features.
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PMID:Allgrove syndrome with prominent neurological symptoms. Case Report. 2761 95

Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-Asyndrome with autonomic dysfunction.
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PMID:Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy. 2767 Nov 88

Bronchogenic cysts are congenital malformations of the tracheobronchial tree. We describe a 20-month-old male who presented with persistent non-bilious emesis; manometry and imaging were consistent with esophageal achalasia. During a planned laparoscopic Heller myotomy, an intramural bronchogenic cyst was discovered in the anterior esophagus at the level of the gastroesophageal junction and successfully resected with resolution of his symptoms.
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PMID:Intramural esophageal bronchogenic cyst mimicking achalasia in a toddler. 2782 80

Abdominal ultrasound of a 28-year-old man with chronic abdominal pain and vomiting demonstrates a dilated aperistaltic distal esophagus, which was confirmed on follow-up esophagram as achalasia. The 2 main types of achalasia are primary and secondary. Primary achalasia occurs with the loss of postganglionic neurons resulting in failed distal esophageal relaxation. Secondary achalasia is esophageal narrowing due to nondenervation causes. The diagnosis of achalasia is typically made with manometry and barium esophagram.
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PMID:Abdominal Pain and Vomiting. 2887

Achalasia cardia is an oesophageal motility disorder characterised by aperistalsis and failure of relaxation of the lower oesophageal sphincter. The management is predominantly palliative with focus on addressing the sphincter that involves either pneumatic dilatation or Heller myotomy which relieves dysphagia in the majority of the cases. End-stage achalasia (ESA) is characterised by failed myotomy, massively dilated and tortuous oesophagus with nutritional deterioration due to progressive dysphagia and vomiting. In these subgroups of patients, oesophagectomy may be the last resort. While oesophagectomy has been described for ESA before, thoracoscopic oesophagectomy has not been reported previously. Hereby, we report our experience of performing minimally invasive oesophagectomy (thoracoscopic) with the gastric pull-up.
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PMID:Thoracoscopic oesophagectomy for end-stage achalasia. 2931 22

Achalasia cardia is an esophageal motility disorder rarely reported in children and more so in young infants. Common clinical presentations include vomiting, dysphagia, regurgitation, recurrent pulmonary aspiration and failure to thrive. Diagnosis is made by barium swallow study and esophageal manometry, which is the gold standard test. Pharmocological management and endotherapy often fails and results in recurrence of symptoms. Laparoscopic Hellers myotomy, with or without anti-reflux procedure is the standard treatment of choice for children. Per-oral endoscopic myotomy is utilized for treatment of achalasia in adults, but its safety, efficacy, and feasibility is not studied in children.
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PMID:Achalasia Cardia in a Young Infant. 2934 Sep 27

Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder). This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove's syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms.
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PMID:AAA Syndrome, Case Report of a Rare Disease. 2949 88

Background: A few decades ago, esophageal substitution was mainly dedicated particularly in postcaustic esophageal stenosis; currently, the reconstruction has expanded its palette of indications to other areas of benign esophageal pathology (severe motor disorders, esophageal achalasia with multiple relapses, peptic stenosis, etc.) but has also become a quasi-obligatory final time in the esophagectomy for cancer whenever it is possible. The techniques of esophageal reconstruction using the stomach, regardless of the indication and the chosen technical option, remain a valuable and effective method. A number of striking arguments advocate for one or another type of gastric graft: anatomic factors more than convenient (vascularization, sufficient length, a wall structure favorable for suture, etc.) and a sustainable surgical intervention (length, approach, complexity of the surgical steps digestive disorders after surgery, post-therapeutic functionality, etc.). Choosing a technique or another, beyond pathological arguments, should take into account remote functionality, with a clear impact on metabolic status and quality of life. So, according to this criterion, can we functionally justify a type or another of gastric restoration? Finally, the proof of an adequate solution is relatively easy to appreciate: has swallowing been restored and if so, the result has been maintained over time? For oncological cases, the assessment should also take into account the chronological criterion of the postoperative survival rate. Methods: The statistically rated lot ranged from 1981 to 2016 and included 268 patients with surgical interventions for esophageal stenosis, distributed according to etiopathogenesis and indication in 201 reconstructions for post-caustic stenosis, and 67 for post-esophagectomy replacement for neoplasm. The techniques used for remote functional evaluation included: barium swallow, endoscopy + biopsy, and in cases with obvious changes pH measurement/24 h and manometry and, only in exceptional cases, scintigraphy with marked foods. Results: two types of problems have been identified: a particular type of neuro-motor dysfunction of the esophageal substitute in 6 patients (1 patient with Gavriliu reconstruction and 5 with Nakayama reconstruction, using the whole stomach), with difficulty, delayed gastric graft evacuation, with major stasis and abdominal discomfort vomiting, inability to eat, aspiration phenomena) respectively a reflux pathology - 8 patients, being proved by a specific simptomatology, barium lunch, endoscopic examination and pH-metric examination. Reflux was alkaline in 7 patients, all with pyloroplasty, 5 with whole stomach and 2 with Akiyama procedure; in 1 case with Gavriliu procedure the reflux was acid. Conclusions: Stomach is a good option in esophageal substitution. Concerning the remote results, a good functionality is found with a reasonable metabolic status. The two phenomena on which the function of the graft depends - secretory activity and motor activity - seem to be restored in time but these does not occur concurrently, the recovery of the secretory function being much faster.
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PMID:Esophageal Reconstruction with the Stomach, a Functional Dilemma? 2950 34

This study was undertaken to determine whether postoperative outcomes after laparoscopic Heller myotomy with anterior fundoplication could be predicted by preoperative findings on esophagography. Preoperative barium esophagograms of 135 patients undergoing laparoscopic Heller myotomy with anterior fundoplication were reviewed. The number of esophageal curves, esophageal width, and angulation of the gastroesophageal junction (GEJ) were determined; correlations between these determined parameters and symptoms were assessed using linear regression analysis. The number of esophageal curves correlated with the preoperative frequency of dysphagia, vomiting, chest pain, regurgitation, and heartburn. The width of the esophagus negatively correlated with the preoperative frequency of regurgitation. The angulation of the GEJ did not correlate with preoperative symptoms. Laparoscopic Heller myotomy with anterior fundoplication significantly reduced the frequency and severity of all symptoms, regardless of the number of esophageal curves, esophageal width, or angulation of the GEJ. Laparoscopic Heller myotomy with anterior fundoplication provides dramatic palliation for achalasia. More esophageal curves on preoperative esophagography correlate well with the frequency of a broad range of preoperative symptoms, including the frequency of dysphagia and regurgitation. Patients experience dramatically improved frequency and severity of symptoms after laparoscopic Heller myotomy with anterior fundoplication for achalasia regardless of the number of esophageal curves, esophageal width, or the angulation of the GEJ. Findings on barium esophagogram, in evaluating achalasia, should not deter the application of laparosocopic Heller myotomy with anterior fundoplication.
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PMID:Laparoscopic Heller Myotomy with Anterior Fundoplication Improves Frequency and Severity of Symptoms of Achalasia, Regardless of Preoperative Severity Determined by Esophagography. 2958 Mar 41


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