Clinical and pathophysiological outcomes of the robotic-assisted Heller-Dor myotomy for achalasia: a single-center experience.

Laparoscopic Heller myotomy and Dor fundoplication is considered a safe and effective treatment for achalasia. Robotic-assisted Heller-Dor procedure (RAHD) has emerged as an alternative approach due to improved visualization and fine motor control. The aim of this prospective study was to evaluate clinical, and functional results of RAHD. We evaluated a group of 66 patients with achalasia that underwent robotic-assisted Heller-Dor operation. Before treatment all patients underwent a diagnostic work-up such as upper endoscopy, esophageal barium swallow and high resolution manometry. The presence of postoperative gastroesophageal reflux disease was diagnosed by impedance and pH monitoring (MII-pH). Dysphagia improved in 92.4% of patients after treatment. Barium swallow series showed esophageal emptying in 100% of patients and a significant reduction of the esophageal diameter (p = 0.00235). Forty-five of 66 patients (68.2%) underwent upper endoscopy and 35 of 66 (53%) underwent MII-pH. Esophageal erosions were found in 4/45 (8,8%) and MII-pH showed abnormal results in 3/35 patients (8.6%). RAHD ensures a meticulous esophageal and gastric myotomy, allowing to visualize and divide each muscle fibers with a low rate of intraoperative and postoperative complications. resulting in turn in good clinical outcomes, radiological findings and functional results even if robotic tecnique definitely increases the surgical cost in the treatment of these functional esophageal disorders.

Pattern of expression of adiponectin receptors in human liver and its relation to nonalcoholic steatohepatitis.

BACKGROUND: Adiponectin has antisteatosis-anti-inflammatory properties and its circulating levels are reduced in nonalcoholic steatohepatitis (NASH). METHODS: To assess the role of adiponectin in NASH, we measured expression of adiponectin gene (APM1) and receptors (AdipoR1/AdipoR2) in liver and subcutaneous and visceral fat in subjects with biopsy-proven NASH or pure steatosis (PS). In 103 subjects undergoing gastric bypass or elective abdominal surgery (17 with normal liver histology (C), 52 with PS, and 34 with NASH), RNA was extracted from tissue samples, and quantification of APM1, AdipoR1, and AdipoR2 was carried out by real-time polymerase chain reaction. RESULTS: In NASH vs C, circulating adiponectin levels (3.6[2.4] vs 5.3[4.3] microg/ml, median[interquartile range], p < 0.05) and adiponectin concentrations, APM1, AdipoR1, and AdipoR2 expression in visceral fat were all reduced (p < or = 0.03). These differences disappeared when adjusting for obesity. In contrast, liver AdipoR1 (1.40 [0.46] vs 1.00 [0.32] of controls) and AdipoR2 expression (1.20 [0.41] vs 0.78 [0.43]) were increased in NASH, and group differences were statistically significant (p < 0.0001 for AdipoR1 and p = 0.0001 for AdipoR2). Results for PS were generally intermediate between NASH and C. Liver receptor expression was reciprocally related to circulating adiponectin (rho = -0.42, p < 0.003 for AdipoR1 and rho = -0.26, p < 0.009 for AdipoR2). In multivariate models adjusting for sex, age, fasting plasma glucose, and obesity, liver enzymes levels were directly related to both AdipoR1 and AdipoR2 expression in liver. CONCLUSION: In obese patients with NASH, adiponectin receptors are underexpressed in visceral fat-as a likely correlate of obesity-but overexpressed in liver, possibly as a compensatory response to hypoadiponectinemia, and positively associated with liver damage.

Minimally invasive pharyngo-laryngo-esophagectomy: a salvage procedure for recurrent postcricoid esophageal cancer.

Hypopharyngeal and cervical esophageal tumors represent 5-10% of all esophageal neoplasms and are challenging for both surgeons and oncologists, because the choice of the adequate therapeutic strategy is not clearly defined and therefore difficult. In fact, although surgical treatment represents the gold standard of therapy, chemo-radiotherapy, previously used as adjuvant treatment, has been more recently adopted with curative intent, leaving to surgery a salvage role only. When surgery is required it is advisable to reduce patients' trauma. The present study reports on a personal technique for minimally invasive pharyngo-laryngo-esophagectomy and reconstruction with the whole stomach. We use a laparoscopic approach for mobilization of the stomach, transhiatal esophageal dissection and to follow transhiatal gastric transposition to the neck combined to a cervicotomy to perform pharyngo-laryngectomy, proximal esophageal mobilization, and pharyngo-gastric anastomosis. We performed this technique on four patients with recurrent disease after initially curative primary chemo-radiotherapy. Mean operative time was 345 min (range: 300-384). There were no intraoperative complications. All patients were extubated immediately after the operation and were managed in postoperative care unit for a mean time of 10 days (range: 7-12). Enteral nutrition was begun on post-operative day (POD) 1. The nasogastric tube and drainages were removed on POD 11, and patients immediately started oral nutrition. One patient had a TIA (transient ischemic attack) on POD 2. All patients were discharged within 20 days (18-20). Initial experience with this minimally invasive technique in selected patients is encouraging because it seems to minimize postoperative complications and allows early rehabilitation.

Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study.

Facioscapulohumeral muscular dystrophy type 1A (FSHD1A) is an autosomal dominant inherited disorder characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. A high degree of clinical variability with respect to age at onset, severity, and pattern of muscle involvement, both between and within families, is present. For this reason, diagnosis of FSHD1A can be sometimes difficult and molecular diagnosis is then necessary. A clinical and molecular genetic-based epidemiological investigation has been carried out in the territory of northwestern Tuscany in central Italy to calculate the prevalence rate of FSHD1A as of March, 2004. The molecular diagnosis has been based on the detection of large deletions of variable size of kpnI repeat units on chromosome 4q35. Results have been compared to those of a previous study conducted in the same area in 1981 (in the premolecular diagnosis era). The minimum prevalence rate was 4.60 x 10(-5) inhabitants, a value four times higher compared to our previous study. No significant correlation between fragment size and clinical severity has been observed. This study confirms in an Italian population a prevalence rate of FSHD1A similar to that observed in other populations. Furthermore, it underlines the usefulness of routine adoption of the genetic testing in confirming clinical suspicion of FSHD1A as well as in correctly diagnosing atypical and otherwise misclassified cases.

Inclusion body myopathy associated with motor neuron syndrome: three case reports.

BACKGROUND: Hereditary inclusion body myopathy (h-IBM) is an autosomal-recessive or autosomal-dominant hereditary disease characterized by peculiar findings in muscle biopsies which resemble those occurring in inclusion body myositis (IBM). The absence of an inflammatory infiltrate in myofibers in h-IBM is a relevant differential criterion between the two pathologies. Motor neuron diseases (MND) represent a group of disorders involving both upper and lower motor neurons, characterized by fasciculations, progressive muscle weakness, and muscle atrophy. The most common form and prototype of MND is the amyotrophic lateral sclerosis (ALS) or Charcot's Disease, a progressive and fatal neurodegenerative disorder occurring in late adulthood. The pathogenesis of ALS remains still unknown, a variety of hypotheses having been proposed to account for the disease. The association of both pathologies is not common and offers new hypotheses about the pathogenic mechanisms in skeletal muscle and nervous system degeneration. PATIENTS AND METHODS: Described are three case reports in which we observed the clinical, laboratory and histopathological association of IBM and MND. In one case, dementia was also present. Muscle data was obtained by muscle biopsies and immunohistochemistry, while diagnosis of MND was supported by common neurophysiological techniques. RESULTS: The accumulation ofphosphorylated neurofilaments with a hereditary IBM-like pattern in skeletal muscle fibers without accumulation of amyloid-beta protein was observed. CONCLUSIONS: A better knowledge of the mechanisms in cellular death cascade could explain the pathogenesis of these different degenerative disorders.

Rare case of inflammatory fibrous polyp of the esophagus.

Esophageal inflammatory fibrous polyps are extremely rare benign neoplasms. The manuscript illustrates a case of a man complaining of pyrosis and gastroesophageal reflux symptoms. Diagnostic work-up showed an expansive lesion of the distal esophagus simulating malignancy but with negative, repeated, multiple biopsies. The considerable size of the lesion, and the suspicion of a malignant tumor because of the presence of ulceration, indicated esophagectomy with extensive lymphadenectomy and intrathoracic esophagogastroplasty. The diagnosis of inflammatory polyp of the esophagus was achieved postoperatively. The Discussion deals with a review of the literature and considers the performed operation a good choice considering the hypothesis of a malign neoplastic evolution of this lesion.