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

Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. Much initial molecular analysis supported that Triple-A syndrome was caused by mutations in AAAS, a WD-repeat protein gene. Here we report cloning and characterization of a novel splice variant of human AAAS, which we named AAAS-v2, which is located on the human chromosome 12p13. The cDNA is 1703 bp, encoding a 513-amino acid polypeptide, which contains three WD40 domains, one less than the original which we called AAAS-v1 (Gen Bank: NM_015665.3). RT-PCR analysis in our work revealed that AAAS-v2 and AAAS-v1 were ubiquitously detected in human multiple tissue cDNA (MTC) panels (CLONTECH).
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PMID:Molecular cloning and characterization of AAAS-V2, a novel splice variant of human AAAS. 1602 85

Achalasia is a rare motor disorder of the esophagus, characterized by the absence of peristalsis and impaired swallow-induced relaxation. In the past decade, evidence has been accumulated suggesting that achalasia may be an immune-mediated inflammatory disorder. With the advent of minimally invasive surgery, laparoscopic Heller myotomy (LHM) has slowly shifted the treatment of achalasia toward the greater use of surgical therapy. The goal of both surgical and nonsurgical treatment is to eliminate the outflow obstruction afforded by a nonrelaxing sphincter, relieving dysphagia and maintaining a barrier against gastroesophageal reflux (GER). Endoscopic botulinum toxin injection (EBTI) is safe, easy to perform, inexpensive, and effective in aged patients, and it is especially effective when the lower esophageal pressure is hypertonic. This therapeutic option is reserved for patients too ill to undergo any surgical procedure. Pneumatic dilation (PD) has been shown to be an effective and inexpensive treatment with few adverse effects. The long-term success rate of PD seems to drop progressively over time. Heller myotomy (HM) has shown the best clinical efficacy in achalasia as a first-line treatment. Multiple endoscopic treatments are associated with poorer outcomes after HM. EBTI also makes LHM more difficult and results in a worse surgical outcome. The inferior symptomatic outcomes after thoracoscopic HM may be caused by the difficulty in extending an adequate myotomy onto the stomach from the chest and the inability to create a fundoplication. LHM with Dor's fundoplication (LHM + Dor) is effective and is safer procedure for avoiding GER, dysphagia, mucosal perforation, and a pseudodiverticulum. LHM + Dor is also effective in the presence of sigmoid achalasia, but the clinical result is not as good as nonsigmoid achalasia. A few patients need esophagectomy for surgical failure of HM. However, considering the risk of esophagectomy, LHM + Dor is the first treatment option for patients with achalasia regardless of the degree of esophageal dilatation. This procedure is therefore considered to be an effective and safe treatment for patients of any age or with any condition.
Gen Thorac Cardiovasc Surg 2011 Jun
PMID:Surgical treatment for achalasia: when should it be performed, and for which patients? 2167 5