Genomes and Genes
Summary: A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus).
- Swanstrom L, Rieder E, Dunst C. A stepwise approach and early clinical experience in peroral endoscopic myotomy for the treatment of achalasia and esophageal motility disorders. J Am Coll Surg. 2011;213:751-6 pubmed publisher..Although further evaluation and long-term data are mandatory, POEM could become the treatment of choice for symptomatic achalasia. ..
- Boeckxstaens G, Annese V, des Varannes S, Chaussade S, Costantini M, Cuttitta A, et al. Pneumatic dilation versus laparoscopic Heller's myotomy for idiopathic achalasia. N Engl J Med. 2011;364:1807-16 pubmed publisher..European Achalasia Trial Netherlands Trial Register number, NTR37, and Current Controlled Trials number, ISRCTN56304564.). ..
- Hulselmans M, Vanuytsel T, Degreef T, Sifrim D, Coosemans W, Lerut T, et al. Long-term outcome of pneumatic dilation in the treatment of achalasia. Clin Gastroenterol Hepatol. 2010;8:30-5 pubmed publisher..Management of dilation failures is more problematic. ..
- Leeuwenburgh I, Scholten P, Alderliesten J, Tilanus H, Looman C, Steijerberg E, et al. Long-term esophageal cancer risk in patients with primary achalasia: a prospective study. Am J Gastroenterol. 2010;105:2144-9 pubmed publisher..Despite structured endoscopical surveillance, most neoplastic lesions remain undetected until an advanced stage. Efforts should be made to identify high-risk groups and develop adequate surveillance strategies. ..
- Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A. Intracellular ROS level is increased in fibroblasts of triple A syndrome patients. J Mol Med (Berl). 2010;88:1233-42 pubmed publisher..The increased sensitivity to oxidative stress may be a major mechanism for the neurodegeneration in triple A syndrome. ..
- Reynoso J, Tiwari M, Tsang A, Oleynikov D. Does illness severity matter? A comparison of laparoscopic esophagomyotomy with fundoplication and esophageal dilation for achalasia. Surg Endosc. 2011;25:1466-71 pubmed publisher..For major/extreme illness severity, dilation showed comparable or better profile for hospitalized achalasia patients. These results highlight the importance and impact of illness severity on outcomes of achalasia patients. ..
- Leeuwenburgh I, Gerrits M, Capello A, van den Bogert B, van Dekken H, Steyerberg E, et al. Expression of p53 as predictor for the development of esophageal cancer in achalasia patients. Dis Esophagus. 2010;23:506-11 pubmed publisher..Further study is needed to determine if patients with p53 overexpression would benefit from intensive surveillance to detect esophageal neoplasia at a potential curable stage. ..
- Yu L, Li J, Wang T, Zhang Y, Krasna M. Functional analysis of long-term outcome after Heller's myotomy for achalasia. Dis Esophagus. 2010;23:277-83 pubmed publisher..Surgical intervention does not lead to the return of esophageal peristalsis. Functional damage of LES in patients with achalasia is irreversible. ..
- Chen Z, Bessell J, Chew A, Watson D. Laparoscopic cardiomyotomy for achalasia: clinical outcomes beyond 5 years. J Gastrointest Surg. 2010;14:594-600 pubmed publisher..At minimum 5 years follow-up, laparoscopic cardiomyotomy for achalasia achieves effective and durable relief of symptoms, and most patients are satisfied with the outcome. ..
- Meimaridou E, Kowalczyk J, Guasti L, Hughes C, Wagner F, Frommolt P, et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012;44:740-2 pubmed publisher..NNT knockdown in a human adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our results suggest that NNT may have a role in ROS detoxification in human adrenal glands. ..
- Ren Z, Zhong Y, Zhou P, Xu M, Cai M, Li L, et al. Perioperative management and treatment for complications during and after peroral endoscopic myotomy (POEM) for esophageal achalasia (EA) (data from 119 cases). Surg Endosc. 2012;26:3267-72 pubmed publisher..treatment for complications during and after peroral endoscopic myotomy (POEM) for patients suffering from esophageal achalasia (EA)...
- Vallet A, Verschueren A, Petiot P, Vandenberghe N, Nicolino M, Roman S, et al. Neurological features in adult Triple-A (Allgrove) syndrome. J Neurol. 2012;259:39-46 pubmed publisherTriple-A or Allgrove syndrome is a rare multisystem disease classically associated with esophageal achalasia, adrenal insufficiency and alacrima...
- Bravi I, Nicita M, Duca P, Grigolon A, Cantu P, Caparello C, et al. A pneumatic dilation strategy in achalasia: prospective outcome and effects on oesophageal motor function in the long term. Aliment Pharmacol Ther. 2010;31:658-65 pubmed publisher..A management strategy including sessions of pneumatic dilation until stable remission and a standardized follow-up is highly successful in the long term. Gastro-oesophageal reflux is clinically relevant in a minority of patients. ..
- Sadowski D, Ackah F, Jiang B, Svenson L. Achalasia: incidence, prevalence and survival. A population-based study. Neurogastroenterol Motil. 2010;22:e256-61 pubmed publisher..63/100,000 and 10.82/100,000, respectively. The disease appears to have a stable incidence but a rising prevalence. Survival of achalasia cases is significantly less than age-matched healthy controls. ..
- Zhou P, Cai M, Yao L, Zhong Y, Ren Z, Xu M, et al. [Peroral endoscopic myotomy for esophageal achalasia: report of 42 cases]. Zhonghua Wei Chang Wai Ke Za Zhi. 2011;14:705-8 pubmedTo evaluate the efficacy and the feasibility of peroral endoscopic myotomy (POEM) for esophageal achalasia (AC)...
- Snyder C, Burton R, Brown L, Kakade M, Finan K, Hawn M. Multiple preoperative endoscopic interventions are associated with worse outcomes after laparoscopic Heller myotomy for achalasia. J Gastrointest Surg. 2009;13:2095-103 pubmed publisher..1, 95% confidence interval 1.6-15.8, p = 0.005). Multiple endoscopic treatments are associated with poorer outcomes and should be limited to achalasia patients who fail surgical therapy. ..
- Inoue H, Minami H, Kobayashi Y, Sato Y, Kaga M, Suzuki M, et al. Peroral endoscopic myotomy (POEM) for esophageal achalasia. Endoscopy. 2010;42:265-71 pubmed publisher..endoscopic myotomy (POEM) was developed by our group to provide a less invasive permanent treatment for esophageal achalasia. POEM was performed in 17 consecutive patients with achalasia (10 men, 7 women; mean age 41.4 years)...
- Wang L, Li Y. Recurrent achalasia treated with Heller myotomy: a review of the literature. World J Gastroenterol. 2008;14:7122-6 pubmed..HM has the best efficacy in patients with recurrent achlasia who were treated with HM as first-line treatment. Future studies should focus on how to increase the success rate and decrease the complications of HM. ..
- Patti M, Fisichella P, Perretta S, Galvani C, Gorodner M, Robinson T, et al. Impact of minimally invasive surgery on the treatment of esophageal achalasia: a decade of change. J Am Coll Surg. 2003;196:698-703; discussion 703-5 pubmed..This has followed documentation that laparoscopic treatment outperforms balloon dilatation and botulinum toxin injection. ..
- Brooks B, Kleta R, Caruso R, Stuart C, Ludlow J, Stratakis C. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol. 2004;4:7 pubmed..In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. ..
- Khelif K, De Laet M, Chaouachi B, Segers V, Vanderwinden J. Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. Am J Surg Pathol. 2003;27:667-72 pubmed..Other features were less constant and may reflect the variability of disease expression and progression among patients with Allgrove's syndrome. ..
- Bloomston M, Brady P, Rosemurgy A. Videoscopic Heller myotomy with intraoperative endoscopy promotes optimal outcomes. JSLS. 2002;6:133-8 pubmed..We advocate concomitant endoscopy during Heller myotomy to guide myotomy and submit that routine fundoplication is clinically unnecessary. ..
- Luketich J, Fernando H, Christie N, Buenaventura P, Keenan R, Ikramuddin S, et al. Outcomes after minimally invasive esophagomyotomy. Ann Thorac Surg. 2001;72:1909-12; discussion 1912-3 pubmed..The laparoscopic approach offers excellent results and was the preferred approach by our thoracic group for treating achalasia. Thoracic residency training should strive to include laparoscopic esophageal experience. ..
- Sivarao D, Mashimo H, Thatte H, Goyal R. Lower esophageal sphincter is achalasic in nNOS(-/-) and hypotensive in W/W(v) mutant mice. Gastroenterology. 2001;121:34-42 pubmed..nNOS(-/-) mice have LES hypertension with impaired relaxation resembling achalasia. In contrast, W/W(v) mice have hypotensive LES with unimpaired relaxation, suggesting that ICC-IM do not play a role in nitrergic neurotransmission. ..
- Pandolfino J, Kwiatek M, Nealis T, Bulsiewicz W, Post J, Kahrilas P. Achalasia: a new clinically relevant classification by high-resolution manometry. Gastroenterology. 2008;135:1526-33 pubmed publisher..Utilizing these subclassifications would likely strengthen future prospective studies of treatment efficacy in achalasia. ..
- Gonlachanvit S, Fisher R, Parkman H. Diagnostic modalities for achalasia. Gastrointest Endosc Clin N Am. 2001;11:293-310, vi pubmed..The article reviews these and other diagnostic tests that may be used in evaluating patients suspected of having achalasia. ..
- Kostic S, Kjellin A, Ruth M, Lonroth H, Johnsson E, Andersson M, et al. Pneumatic dilatation or laparoscopic cardiomyotomy in the management of newly diagnosed idiopathic achalasia. Results of a randomized controlled trial. World J Surg. 2007;31:470-8 pubmed..Therefore we designed a study in which pneumatic dilatation was compared to laparoscopic cardiomyotomy to which was added a partial posterior fundoplication...
- Dang Y, Mercer D. Treatment of esophageal achalasia with Heller myotomy: retrospective evaluation of patient satisfaction and disease-specific quality of life. Can J Surg. 2006;49:267-71 pubmedProspective randomized studies have suggested that surgery palliates esophageal achalasia more effectively than pneumatic dilatation, but for some dilatation is still the procedure of choice for initial treatment...
- Bektas A, Yasa M, Kuzu I, Dogan I, Unal S, Ormeci N. Flow cytometric DNA analysis, and immunohistochemical p53, PCNA and histopathologic study in primary achalasia: preliminary results. Hepatogastroenterology. 2001;48:408-12 pubmed..7 +/- 6.5 in dysplasia group (P > 0.05). DNA aneuploidy, p53 positivity, and higher cellular proliferation index may have important role in the pathogenesis of esophageal cancer in primary achalasia. ..
- Kiriyama T, Hirano M, Asai H, Ikeda M, Furiya Y, Ueno S. Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress. Biochem Biophys Res Commun. 2008;374:631-4 pubmed publisher..These findings may help develop treatments for currently intractable triple A syndrome and other oxidative-stress-related neurological diseases, and contribute to nuclear compartmentalization study. ..
- Wills V, Hunt D. Functional outcome after Heller myotomy and fundoplication for achalasia. J Gastrointest Surg. 2001;5:408-13 pubmed..Despite initial symptomatic relief, patients with achalasia suffer a progressive decline with recurrent dysphagia and regurgitation. The type of fundoplication used may contribute to these poor results. ..
- Yi A, Shin J, Song H, Jung H, Lee G, Yoon C, et al. Esophageal achalasia: comparison of fluoroscopically-guided double vs. endoscopically-guided single balloon dilation. Abdom Imaging. 2008;33:177-82 pubmed..effectiveness of fluoroscopically guided double and endoscopically guided single balloon dilations in esophageal achalasia. Thirty-two fluoroscopically guided balloon dilations were performed in 21 patients (group A) and 48 ..
- Raiss M, Hrora A, Menfaa M, Al Baroudi S, Ahallat M, Hosni K, et al. [Heller's myotomy without fundoplication: a series of 123 patients]. Ann Chir. 2002;127:771-5 pubmed..Dysphagia persisted in 3 patients (2%) who had to be reoperated. Results of this series show that systematic fundoplication is not necessary in Heller's myotomy for achalasia of lower oesophageal sphincter. ..
- Zaninotto G, Annese V, Costantini M, Del Genio A, Costantino M, Epifani M, et al. Randomized controlled trial of botulinum toxin versus laparoscopic heller myotomy for esophageal achalasia. Ann Surg. 2004;239:364-70 pubmed..laparoscopic cardia myotomy and fundoplication with botulinum toxin (BoTx) injection in patients with esophageal achalasia. Although myotomy is thought to offer better results, recent studies have reported 80% success rates after ..
- Huebner A, Yoon S, Ozkinay F, Hilscher C, Lee H, Clark A, et al. Triple A syndrome--clinical aspects and molecular genetics. Endocr Res. 2000;26:751-9 pubmed..The considerable intra- and interfamilial variability of the severity of the disorder implies a variable expression of an impaired pleiotropically acting gene. ..
- Katsumata N, Hirose H, Kagami M, Tanaka T. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Endocr J. 2002;49:49-53 pubmed..To our knowledge, this is the first report on AAAS gene mutations in Japan. ..
- Stylopoulos N, Bunker C, Rattner D. Development of achalasia secondary to laparoscopic Nissen fundoplication. J Gastrointest Surg. 2002;6:368-76; discussion 377-78 pubmed..Esophageal motility studies are necessary to confirm the diagnosis. Failure to consider the diagnosis of secondary achalasia can lead to multiple fruitless attempts at dilatation or even inappropriate reoperations. ..
- Smith C, Stival A, Howell D, Swafford V. Endoscopic therapy for achalasia before Heller myotomy results in worse outcomes than heller myotomy alone. Ann Surg. 2006;243:579-84; discussion 584-6 pubmed..Endoscopic therapy for achalasia should not be used unless patients are not candidates for surgery. ..
- Pastor A, Mills J, Marcon M, Himidan S, Kim P. A single center 26-year experience with treatment of esophageal achalasia: is there an optimal method?. J Pediatr Surg. 2009;44:1349-54 pubmed publisher..2 months; SD, 196.5). Both dilatation and myotomy are effective immediate treatment of achalasia. A clear transition to and preference for laparoscopic approach has occurred in the treatment of achalasia in children. ..
- Taketomi T, Yoshiga D, Taniguchi K, Kobayashi T, Nonami A, Kato R, et al. Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia. Nat Neurosci. 2005;8:855-7 pubmed..loss of the Sprouty2 gene (also known as Spry2) in mice resulted in enteric nerve hyperplasia, which led to esophageal achalasia and intestinal pseudo-obstruction...
- Pehlivanov N, Pasricha P. Achalasia: botox, dilatation or laparoscopic surgery in 2006. Neurogastroenterol Motil. 2006;18:799-804 pubmed
- De Palma G, lovino P, Masone S, Persico M, Persico G. Self-expanding metal stents for endoscopic treatment of esophageal achalasia unresponsive to conventional treatments. Long-term results in eight patients. Endoscopy. 2001;33:1027-30 pubmed..This report assesses the role stents may play in the treatment of esophageal achalasia in selected patients...
- Ackroyd R, Watson D, Devitt P, Jamieson G. Laparoscopic cardiomyotomy and anterior partial fundoplication for achalasia. Surg Endosc. 2001;15:683-6 pubmed..Laparoscopic cardiomyotomy with anterior partial fundoplication achieves excellent symptomatic relief for patients with achalasia, and it can be performed with minimal morbidity. ..
- Verne G, Hahn A, Pineau B, Hoffman B, Wojciechowski B, Wu W. Association of HLA-DR and -DQ alleles with idiopathic achalasia. Gastroenterology. 1999;117:26-31 pubmed..19; chi2 = 5.19, P = 0.0227 uncorrected, Pc = 0.295). Idiopathic achalasia is associated with HLA alleles in a race-specific manner. These results support an immunogenetic mechanism in the pathogenesis of idiopathic achalasia. ..
- Rai R, Shende A, Joshi A, Mathur A, Nijhawan S. Rigiflex pneumatic dilation of achalasia without fluoroscopy: a novel office procedure. Gastrointest Endosc. 2005;62:427-31 pubmed..Achalasia dilation with this new technique has excellent results and is devoid of the side effects of radiation. It can be done as an office procedure, without the need of a fluoroscopy setup. ..
- Ruffato A, Mattioli S, Lugaresi M, D Ovidio F, Antonacci F, Di Simone M. Long-term results after Heller-Dor operation for oesophageal achalasia. Eur J Cardiothorac Surg. 2006;29:914-9 pubmed..In sigmoid achalasia, oesophagectomy rather than myotomy should be taken into consideration in the first instance. In the long-term, surgery is the best definitive treatment for oesophageal achalasia. ..
- Zaninotto G, Costantini M, Molena D, Portale G, Costantino M, Nicoletti L, et al. Minimally invasive surgery for esophageal achalasia. J Laparoendosc Adv Surg Tech A. 2001;11:351-9 pubmedb>Esophageal achalasia is characterized by loss of peristaltic activity and failure of relaxation of the lower esophageal sphincter (LES). The characteristic dysphagia may be alleviated by surgery, dilations, or botulinum toxin injections...
- Allescher H, Storr M, Seige M, Gonzales Donoso R, Ott R, Born P, et al. Treatment of achalasia: botulinum toxin injection vs. pneumatic balloon dilation. A prospective study with long-term follow-Up. Endoscopy. 2001;33:1007-17 pubmed..Taking into account the lower long-term efficacy of BTX injection therapy, however, it is an alternative only in a minority of older or high-risk patients. ..
- Zaninotto G, Costantini M, Rizzetto C, Zanatta L, Guirroli E, Portale G, et al. Four hundred laparoscopic myotomies for esophageal achalasia: a single centre experience. Ann Surg. 2008;248:986-93 pubmed publisher..Laparoscopic myotomy can durably relieve dysphagia symptoms. High preoperative LES pressures represent the strongest predictor of a positive outcome, probably reflecting a less severely damaged esophageal muscle. ..
- Camacho Lobato L, Katz P, Eveland J, Vela M, Castell D. Vigorous achalasia: original description requires minor change. J Clin Gastroenterol. 2001;33:375-7 pubmed..0004) in this group. The original manometric and radiographic description of vigorous achalasia is accurate. The incidence of chest pain is similar to that of patients with classic achalasia. ..
- Devaney E, Lannettoni M, Orringer M, Marshall B. Esophagectomy for achalasia: patient selection and clinical experience. Ann Thorac Surg. 2001;72:854-8 pubmed