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.

Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the Gene.

Achalasia is an esophageal smooth muscle motility disorder with unknown pathogenesis. Taking into account our previous results on the downexpression of miR-200c-3p in tissues of patients with achalasia correlated with an increased expression of , , and genes, our aim was to explore the unknown biological interaction between these genes and human miR-200c-3p and if this relation could unravel their functional role in the etiology of achalasia. To search for putative miR-200c-3p binding sites in the 3'-UTR of , and , a bioinformatics tool was used.

Circulating levels of cytokines, chemokines and growth factors in patients with achalasia.

Idiopathic achalasia is a disease that is characterized by the absence of peristalsis and incomplete relaxation of the lower esophageal sphincter, which is accompanied by dysphagia, regurgitation, chest pain and weight loss. The role of inflammatory infiltrates in the pathogenesis of achalasia remains controversial, although the infiltrating cell profile in the tissue has been previously characterized histologically and immunohistochemically. The present study aimed to evaluate the serum levels of 27 protein biomarkers to determine their association with achalasia and the clinical disease characteristics.

microRNA-mRNA network model in patients with achalasia.

Background: Achalasia is a rare idiopathic disease with a complex etio-pathogenesis still unknown. This study aimed to identify microRNA (miRNA)-mRNA regulatory networks underlying achalasia.

Methods: The investigation was performed in tissue specimens from 11 patients and five controls using the microarray technology followed by an integrated bioinformatics analysis.

Exogenous Lipoid Pneumonia due to Chronic Inhalation of Oily Product Used as a Lubricant of Tracheotomy Cannula.

Exogenous lipoid pneumonia (ELP) is caused by the inhalation of vaporized oily products. Long-term exposure can result in chronic disease, whereas acute form usually results from massive aspiration of fatty substances. It has an incidence of 1.

Minimally invasive and robotic esophagectomy: state of the art.

Esophageal cancer is the eight most common cancer in the world and surgical resection remains the gold standard not only in providing the optimal chance for cure but also the best palliation for dysphagia. Esophagectomy is a complex operation and is associated with significant morbidity and mortality that are reported as 23-50% and 2-8% in western country. At the moment no gold standard techniques exist for esophagectomy.

Esophageal Achalasia: Predictive Value of Preoperative Resting Pressure of LES Correlated with Type of Fundoplication.

Objective: The aim of the present study is to show the predictive value of the preoperative resting pressure of the lower esophageal sphincter (LES) correlated with the type of fundoplication (Nissen or Dor) after Heller myotomy in our series.

Materials And Methods: From January 1998 to June 2010, 88 patients affected by esophageal achalasia underwent surgery at our unit. However, our study focused on a sample of 36 patients, because many data were lost or was never recorded.

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.

Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be considered a multifactorial disorder as it occurs in related individuals and is associated with HLA class II genes, thereby suggesting genetic influence. We used microarray technology and advanced in-silico functional analyses to perform the first genome-wide expression profiling of mRNA in tissue samples from 12 achalasia and 5 control patients.

Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant.

Aim: To investigate the association of single nucleotide polymorphisms (SNPs) of genes involved in the regulation of immune responses, IL33, IL1RL1, IL23R, and IL10, with idiopathic achalasia in an Italian cohort of patients.

Materials And Methods: A panel of eleven polymorphisms were genotyped in 116 unrelated idiopathic achalasic patients and 371 healthy subjects, by using TaqMan genotyping assays.

Results: Significant differences of allele (P=0.

Fundoplication after heller myotomy: a retrospective comparison between nissen and dor.

Objective: A retrospective comparison between Nissen and Dor fundoplication after laparoscopic Heller myotomy for achalasia.

Materials And Methods: From 1998 to 2004 a first group of 48 patients underwent Heller myotomy and Nissen fundoplication for idiopathic achalasia (H+N group). From 2004 to 2010 a second group of 40 patients underwent Heller myotomy followed by Dor fundoplication (H+D group).

Hyperthermia in the treatment of post-actinic osteosarcomas: our anecdotal experience.

Irradiation-induced sarcomas are a late sequelae of irradiation therapy. Most sarcomas have been reported to occur after exposure to a radiation dose of 55 Gys and above, with a dose ranging from 16 Gys to 112 Gys. These tumours are very aggressive and an early detection is needed for a timely intervention.

Fibrosing mediastinitis as a cause of right claudication.

Fibrosing mediastinitis is a rare benign disorder caused by proliferation of acellular collagen and dense paucicellular fibrous tissue within the mediastinum. Its precise cause, pathogenesis and links to infectious (such as histoplasmosis or tuberculosis) and non-infectious (such as sclerosing cholangitis) diseases remain speculative. Affected patients present signs and symptoms related to obstruction of mediastinal hollow organs, such as large vessels, esophagus and airways.

Pneumatic dilation versus laparoscopic Heller's myotomy for idiopathic achalasia.

Background: Many experts consider laparoscopic Heller's myotomy (LHM) to be superior to pneumatic dilation for the treatment of achalasia, and LHM is increasingly considered to be the treatment of choice for this disorder.

Methods: We randomly assigned patients with newly diagnosed achalasia to pneumatic dilation or LHM with Dor's fundoplication. Symptoms, including weight loss, dysphagia, retrosternal pain, and regurgitation, were assessed with the use of the Eckardt score (which ranges from 0 to 12, with higher scores indicating more pronounced symptoms).

Giant esophageal lipoma.

A case of a giant esophageal pedunculated lipoma diagnosed in a 67-year-old male patient with recent onset of dysphagia is reported. Following the initial endoscopic and radiologic evaluation, the diagnosis was suspected by endo-ultrasonography and confirmed by histopathology. The treatment consisted of an esophagotomy with submucosal resection, through a left sided cervical incision.

Ectopic hepatic tissue misdiagnosed as a tumor of lung.

The ectopic or accessory liver lobe is an uncommon congenital anatomic abnormality. It is considered to be the outcome of an abnormal development of liver tissue during embryologic period. In some cases, it may be secondary to a trauma or a surgical operation.

Beneficial metabolic effects of prompt surgical treatment in patients with an adrenal incidentaloma causing biochemical hypercortisolism.

Context: In patients with adrenal incidentalomas, subclinical hypercortisolism (SH) is associated with an increased prevalence of the metabolic syndrome. The effect of surgical/conservative approach is debated.

Objective: The objective of the study was to determine the effect of the surgical and conservative approaches on the metabolic syndrome in patients with adrenal incidentalomas.

An immunohistochemical study of the myenteric plexus in idiopathic achalasia.

Background: Achalasia is a primary esophageal motor disorder characterized by degenerative changes of the myenteric plexus. The pathophysiologic abnormalities may be the final result of several intermeshing mechanisms, and more than one single factor may cause the motor abnormalities.

Aims: To report our experience in investigating the myenteric plexus of achalasia patients undergoing esophagomyotomy.

Post-surgical hypocortisolism after removal of an adrenal incidentaloma: is it predictable by an accurate endocrinological work-up before surgery?

Objective: Few data are available regarding the need of steroid substitutive therapy after unilateral adrenalectomy for adrenal incidentaloma (AI). It is unknown whether, before surgery, the hypothalamic-pituitary-adrenal (HPA) axis secretion parameters can predict post-surgical hypocortisolism.

Aim: This study aimed to evaluate whether, in AI patients undergoing unilateral adrenalectomy, post-surgical hypocortisolism could be predicted by the parameters of HPA axis function.