Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.

Recently, mutations in the SMAD3 gene were found to cause a new autosomal dominant aneurysm condition similar to Loeys-Dietz syndrome (LDS), mostly with osteoarthritis, called aneurysms-osteoarthritis syndrome (AOS). Our 3-year-old propositus underwent correction of an inguinal hernia at 3 months and substitution of the ascending aorta for pathologic dilation at 12 months of age. Family history reveals aortic dilation in his mother at 30 years, death due to aortic dissection of an 18-year-old maternal aunt, surgical replacement of the ascending aorta because of aneurysm in a maternal uncle at 19 years, postpartum death of the maternal grandmother at 24 years and surgical intervention because of thoracic aortic aneurysm in a brother of the propositus' grandmother at 54 years. The affected individuals present with several other signs of connective tissue disease, but the two adult patients evaluated revealed no radiologic evidence of osteoarthritis. Molecular testing of the TGFBR1 and TGFBR2 genes, involved in LDS, resulted negative, but analysis of SMAD3 disclosed the novel heterozygous loss-of-function mutation c.1170_1179del (p.Ser391AlafsX7) in exon 9 in all affected family members, confirming the diagnosis of AOS. SMAD3 mutations should be considered in patients of all ages with LDS-like phenotypes and negative TGFBR1/2 molecular tests, especially in the presence of aortic root or ascending aortic aneurysms, even though signs of early onset osteoarthritis are absent.

Collis-Nissen gastroplasty for short oesophagus.

The Collis-Nissen procedure is performed for the surgical treatment of 'true short oesophagus'. When this condition is strongly suspected radiologically, the patient is placed in the 45° left lateral position on the operating table with the left chest and arm lifted to perform a thoracostomy in the V-VI space, posterior to the axillary line. The hiatus is opened and the distal oesophagus is widely mobilized. With intraoperative endoscopy, the position of the oesophago-gastric junction in relationship to the hiatus is determined and the measurement of the length of the intra-abdominal oesophagus is performed to decide either to carry out a standard anti-reflux procedure or to lengthen the oesophagus. If the oesophagus is irreversibly short ('true short oesophagus'), the short gastric vessels are divided and the gastric fundus is mobilized. An endostapler is introduced into the left chest. The left thoracoscopic approach is suitable to control effectively the otherwise blind passage of the endostapler into the mediastinum and upper abdomen (if a second optic is not used). The tip of the stapler is clearly visible while 'walking' on the left diaphragm. The Collis gastroplasty is performed over a 46 Maloney bougie. A floppy Nissen fundoplication and the hiatoplasty complete the procedure.

The surgical treatment of the intrathoracic migration of the gastro-oesophageal junction and of short oesophagus in gastro-oesophageal reflux disease.

OBJECTIVES: In the rush to implement laparoscopic surgery for gastro-oesophageal reflux disease (GORD), the necessity to treat a short oesophagus with dedicated techniques was not always adequately considered. The aim of this study was to define the frequency, patterns and surgical treatment of the intrathoracic migration of the g-o junction and short oesophagus in GORD. METHODS: Between 1980 and 2003 our group indicated surgery only for severe and complicated GORD and for drawbacks of medical therapy. Preoperatively patients underwent clinical-instrumental work up. The various degrees of the intrathoracic migration of the g-o junction were classified according to the barium swallow. A total of 319 patients operated upon were grouped according to the periods 1980-1991 and 1992-2003 with 149 and 170 patients, respectively. In the first period only 'open' procedures were performed; the Collis gastroplasty in addition to the antireflux procedure was performed when reduction of the g-o junction in the abdomen required excessive tension. In the second period mini-invasive techniques were progressively introduced. During laparoscopy, the relationship between the g-o junction and the hiatus, and the need to elongate the oesophagus, was assessed by intraoperative oesophagoscopy. RESULTS: The Collis gastroplasty was performed in 29% in the first period and in 23% in the second period. Radiology was a strong predictor of the necessity to elongate the oesophagus. In the second period, global long-term results improved with respect to the first period; P = 0.047 (first period satisfactory 82%, poor 18%, median FU 84, 12-252 months; second period satisfactory 93%, poor 7%, median FU 34, 6-126 months). In the second period, Collis-Nissen and Collis-Belsey procedures had satisfactory results in 80% and poor in 20%. CONCLUSIONS: In surgery for severe GORD, the Collis procedure is required in 23% of operations; radiology helps to plan surgery; intraoperative endoscopy avoids unnecessary oesophageal lengthening.

Pharyngoesophageal manometry with an original balloon sensor probe for the study of oropharyngeal dysphagia.

The goal of our study was to verify the clinical applicability of an original balloon sensor probe for the manofluorographic study of oropharyngeal dysphagia. A prototype apparatus for manofluorography was developed and a standard perfused probe for esophageal manometry was modified by applying fluid-filled floppy balloons 0.5-, 1-, and 2.5-cm long. A group of healthy volunteers and a group of patients affected by oropharyngeal dysphagia underwent manofluorography. Statistically significant differences were calculated between the groups with regard to the upper esophageal sphincter (UES) basal and postrelaxation contraction pressures (p<0.05, Student's t test, 2.5- vs. 1-cm-long balloon sensors). In the group of patients versus the group of healthy volunteers, statistically significant differences were calculated with regard to pharyngeal intrabolus pressure, UES residual and UES postrelaxation contraction pressures, and mean diameter of the UES during maximal opening (p<0.05, Student's t test). A strong negative correlation (r=-0.92, p=0.001; r=-0.93, p=0.006 linear regression analysis) was observed between intrabolus pressure and UES diameter during maximum opening in the group of patients. The balloon probe demonstrated its reliability and clinical adequacy for the study of swallowing disorders.

Balloon sensors for the manometric recording of the pharyngoesophageal tract: an experimental study.

The goal of our study was to investigate manometric balloon sensors of original conception in order to overcome the limitations of perfused and solid-state sensors in the assessment of the pharyngoesophageal motility abnormalities. A standard perfused probe for esophageal manometry was modified by applying fluid-filled floppy balloons 0.5-, 1-, and 2.5-cm long. The balloon sensor probe was tested at the bench with regard to the response to the applied pressures, the frequency-response curve, and the behavior during propagation of the peristaltic waves in an esophageal model. The physical properties of the balloon sensors proved to be adequate for pharyngoesophageal motility studies. The static response of the balloon probe to the applied pressures was linear. For the frequency-response curve, the upper cutoff frequency (A=1/square root of 2) was 23 Hz, resonance frequency was 16 Hz, and resonance amplification was 1.6. No statistically significant differences were observed between balloon sensors of different length with regard to amplitude and duration of recorded peristaltic waves (p>0.05). In conclusion, the balloon probe has the physical and technical characteristics required for the study of swallowing disorders.

Hiatus hernia and intrathoracic migration of esophagogastric junction in gastroesophageal reflux disease.

The prevalence and clinical presentation of reducible and irreducible hiatus hernia were investigated within a gastro-esophageal reflux disease patient population. Reflux symptoms and esophagitis data were collected on 791 patients. The barium swallow was used to assess the esophagogastric junction. Clinical and endoscopic findings were tested to predict radiographic findings. The esophagogastric junction was normal in 17% of patients, 53% had a sliding hiatus hernia with a reducible esophagogastric junction; in 23% it was irreducible although axial, and 8% had massive incarcerated hiatus hernia. The presence of reducible sliding hiatus hernia did not influence clinical presentation. Axial irreducibility presented with long-standing severe symptoms and esophagitis in 80% of cases. Clinical and endoscopic findings predicted axial irreducibility in 52% of cases. In conclusion, sliding hiatus hernia with an reducible esophagogastric junction does not influence the severity of gastroesophageal reflux disease. An irreducible esophagogastric junction is associated with long-standing severe gastroesophageal reflux disease. Clinical and endoscopic findings may only be indicative of axial esophagogastric junction irreducibility; thus barium swallow should be part of the work-up.

Radiological examinations in the morpho-functional evaluation of the esophago-gastric junction in gastro-esophageal reflux disease.

PURPOSE: The aim of our paper is to define, on the basis of a long experience, the anatomical and radiological classification of the progressive phases of the axial intrathoracic migration of the esophago-gastric junction (EGJ), through a standardised radiological method that allows precise identification of the anatomical structures involved. MATERIALS AND METHODS: From 1981 to 2001, 1388 patients with gastro-esophageal reflux disease (GERD) were examined by traditional contrast techniques that consisted in taking single contrast radiograms of the patients in different positions after administering a small high-density bolus of barium: with the patient standing up in frontal position, at rest, during forced inspiration, and during straining; standing up in a right front 30 degrees oblique position; and in prone position, in a right posterior 30 degrees oblique projection. On the basis of previous radiological and manometric studies aimed at verifying the diagnostic reliability of the radiological examination [8], the distance of the esophago-gastric junction from the esophageal hiatus was indirectly evaluated in an anterior-posterior projection, according to the criteria introduced by Monges [3]. The sling fibers, which form a radiologically detectable cut at the apex of the angle of His, are the lowest portion of the EGJ. RESULTS: On the basis of the radiological findings, and in agreement with the radiological classifications reported in the literature, we evidenced five groups, with pathologically characteristic signs: - 1(st) group (63%) patients who in orthostatic position have an EGJ regularly placed within the abdomen (16%), and patients with the EGJ regularly placed within the abdomen, but with a small sliding intermittent hiatus hernia (47%); - 2(nd) group (13%) cardial tuberosity malposition; - 3(rd) group (7%) concentric hiatus hernia; - 4(th) group (8%) acquired short esophagus; - 5(th) group (9%) massive incarcerated gastric hiatus hernia. CONCLUSIONS: Traditional radiography, performed with an adequate technique and with the necessary expedients, allows for the correct interpretation of the anatomical disoder called GERD, and is therefore the first diagnostic approach in defining correct patient management.