Abstract: BACKGROUND & AIMS: We sought to test the diagnostic accuracy of ultrasound (US), color Doppler US (CD-US), and contrast-enhanced US (CE-US) in the evaluation of inflammatory activity in patients with Crohn's disease (CD), and to correlate the findings of these sonographic studies with inflammatory activity, as scored by the CD activity index (CDAI). METHODS: Patients with CD were enrolled in the study. Radiologists performing the scans were blinded to clinical status. Baseline US, CD-US, and CE-US examinations were conducted with high-frequency probes (8-14 and 5-7 MHz) before and after injection of sulfur hexafluoride-filled microbubbles. The diagnostic accuracy of baseline US, CD-US, and CE-US were calculated by using the endoscopic and histologic findings as reference standards and correlated with the CDAIs by using the Pearson linear correlation coefficient. RESULTS: Forty-seven patients (20 men; 27 women; mean age +/- SD, 38 +/- 14 years) with a CDAI > 150 (n = 30) or < 150 (n = 17), were recruited. CE-US showed the highest performance, with 93.5% sensitivity, 93.7% specificity, and 93.6% overall accuracy. CE-US revealed 3 bowel wall perfusion patterns after microbubble injection: submucosal enhancement and inward and outward transparietal enhancement. The linear correlation coefficient for CE-US versus CDAI was 0.74 (P < .0001); for baseline US (assessing thickness, length, and multilayer appearance of the diseased bowel) versus the CDAI, the coefficients were 0.68 (P < .0001), 0.47 (P = .0009), and 0.60 (P < .0001), respectively; and for CD-US versus CDAI the coefficient was 0.73 (P < .0001). CONCLUSIONS: CE-US has a high sensitivity and specificity in detecting inflammatory activity and a strong correlation with the CDAI.
Abstract: INTRODUCTION: Bouveret's syndrome (gastric outlet obstruction due to impaction of a stone) is a rare variant of gallstone ileus. A recently observed case led us to review the literature, with the aim to discuss the recent advances in the management of this rare syndrome. DISCUSSION: A 69-year-old woman was admitted with symptoms of high intestinal obstruction. Computed tomography scan of the abdomen showed a large gallstone impacted in the duodenum. One-stage surgery, consisting in enterolithotomy, cholecystectomy, and fistula repair, was carried out. Although several surgical and nonoperative procedures have been used, the optimal treatment of Bouveret's syndrome remains controversial. Surgery still maintains a prominent position, even though nonoperative procedures have an increasing role especially in high risk patients with important comorbidities. The decision should be taken on an individual basis, after evaluating patient's general condition and age, stone size, comorbidities influencing the operative risk, and expertise of surgical and endoscopic teams. One-stage surgery may offer definitive management in selected patients.
Abstract: Intrathoracic anastomotic leakage is one of the major complications of esophageal surgery that can lead to high mortality rate. Depending on the clinical presentation, therapeutic options include surgical reintervention and conservative management with or without external drainage or stenting. In this paper, we report a series of three patients, two men and one woman, mean age of 55.6 years (range 34-68 years), having intrathoracic anastomotic leak after esophagogastrectomy treated by insertion of four covered self-expandable metal stents performed exclusively under fluoroscopic view. Complete resolution of the leakage was obtained in all patients. Despite the limited number of patients, conservative management of intrathoracic anastomotic leaks with covered self-expandable metal stents performed under fluoroscopic guidance has proved to be rapid, safe, and effective in all cases of this series.
Abstract: Infection by Helicobacter pylori is the most important risk factor for gastric cancer. However, only a small fraction of colonized individuals, representing at least half of the world's population, develop this malignancy. In order to shed light on host-microbial interactions, gastric mucosa biopsies were collected from 119 patients suffering from dyspeptic symptoms. 8-Hydroxy-2'-deoxyguanosine (8-oxo-dG) levels in the gastric mucosa were increased in carriers of H.pylori, detected either by cultural method or by polymerase chain reaction, and were further increased in subjects infected with strains positive for the cagA gene, encoding the cytotoxin-associated protein, cagA. Oxidative DNA damage was more pronounced in males, in older subjects, and in H.pylori-positive subjects suffering from gastric dysplasia. Moreover, 8-oxo-dG levels were significantly higher in a small subset of subjects having a homozygous variant allele of the 8-oxoguanosine-glycosylase 1 (OGG1) gene, encoding the enzyme removing 8-oxo-dG from DNA. Conversely, they were not significantly elevated in glutathione S-transferase M1 (GSTM1)-null subjects. Thus, both bacterial and host gene polymorphisms affect oxidative stress and DNA damage, which is believed to represent a key mechanism in the pathogenesis of gastric cancer. The interplay between bacterial and host gene polymorphisms may explain why gastric cancer only occurs in a small fraction of H.pylori-infected individuals.
Abstract: Mycobacterium avium subsp. paratuberculosis causes Johne's disease, a systemic infection and chronic inflammation of the intestine that affects many species, including primates. Infection is widespread in livestock, and human populations are exposed. Johne's disease is associated with immune dysregulation, with involvement of the enteric nervous system overlapping with features of irritable bowel syndrome in humans. The present study was designed to look for an association between Mycobacterium avium subsp. paratuberculosis infection and irritable bowel syndrome. Mucosal biopsy specimens from the ileum and the ascending and descending colon were obtained from patients with irritable bowel syndrome attending the University of Sassari, Sassari, Sardinia, Italy. Crohn's disease and healthy control groups were also included. Mycobacterium avium subsp. paratuberculosis was detected by IS900 PCR with amplicon sequencing. Data on the potential risk factors for human exposure to these pathogens and on isolates from Sardinian dairy sheep were also obtained. Mycobacterium avium subsp. paratuberculosis was detected in 15 of 20 (75%) patients with irritable bowel syndrome, 3 of 20 (15%) healthy controls, and 20 of 23 (87%) people with Crohn's disease (P = 0.0003 for irritable bowel syndrome patients versus healthy controls and P = 0.0000 for Crohn's disease patients versus healthy controls). One subject in each group had a conserved single-nucleotide polymorphism at position 247 of IS900 that was also found in isolates from seven of eight dairy sheep. There was a significant association (P = 0.0018) between Mycobacterium avium subsp. paratuberculosis infection and the consumption of hand-made cheese. Mycobacterium avium subsp. paratuberculosis is a candidate pathogen in the causation of a proportion of cases of irritable bowel syndrome as well as in Crohn's disease.
Abstract: AIM: To study the association between Crohn's disease (CD), Mycobacterium avium subspecies paratuberculosis (MAP), and genetic factors by examining the role of natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms (now SLC11A1) in Sardinian patients with CD and controls. METHODS: Thirty-seven CD patients and 34 controls with no inflammatory bowel disease (IBD) were recruited at the University of Sassari after giving written consent. Six SCL11A1 polymorphisms previously reported to be the most significantly associated with IBD were searched. M. paratuberculosis was identified by IS900 PCR and sequencing. Logistic regression was used to calculate odds ratios (OR) for the associations among CD, presence of MAP, and 6 loci described above. RESULTS: For the first time, a strong association was observed between polymorphisms at NRAMP1 locus 823C/T and CD. While CD was strongly associated with both NRAMP1 and MAP, NRAMP1 polymorphisms and MAP themselves were not correlated. CONCLUSION: Combined with previous work on the NOD2/CARD15 gene, it is clear that the interplay of genetic, infectious, and immunologic factors in the etiology of CD is complex.
Abstract: OBJECTIVES: Sardinia is an island community of 1.6 million people. There are also about 3.5 million sheep and one hundred thousand cattle in which Johne's disease and Mycobacterium avium subspecies paratuberculosis infection are endemic. The present study was designed to determine what proportion of people in Sardinia attending for ileocolonoscopy with or without Crohn's disease were infected with this pathogen. METHODS: Mycobacterium avium subspecies paratuberculosis was detected by IS900 PCR on DNA extracts of fresh intestinal mucosal biopsies as well as by isolation in culture using supplemented MGIT media followed by PCR with amplicon sequencing. RESULTS: Twenty five patients (83.3%) with Crohn's disease and 3 control patients (10.3%) were IS900 PCR positive (p = 0.000001; Odds ratio 43.3). Mycobacterium avium subspecies paratuberculosis grew in cultures from 19 Crohn's patients (63.3%) and from 3 control patients (10.3%) (p = 0.00001; Odds ratio 14.9). All patients positive by culture had previously been positive by PCR. Mycobacterium avium subspecies paratuberculosis first appeared in the liquid cultures in a Ziehl Neelsen (ZN) staining negative form and partially reverted through a rhodamine-auramine positive staining form to the classical ZN positive form. This resulted in a stable mixed culture of all 3 forms illustrating the phenotypic versatility of these complex chronic enteric pathogens. CONCLUSIONS: Mycobacterium avium subspecies paratuberculosis was detected in the majority of Sardinian Crohn's disease patients. The finding of the organism colonizing a proportion of people without Crohn's disease is consistent with what occurs in other conditions caused by a primary bacterial pathogen in susceptible hosts.
Abstract: The present study was performed to determine what proportion of people in Sardinia with or without Crohn's disease were infected with Mycobacterium avium subspecies paratuberculosis and had a preponderance of allelic variants of Nod 2, an intracellular protein involved in Crohn's disease susceptibility. Genetic analysis of the alleles of the NOD 2/CARD 15 gene (ins C 3020, G 908 R, and R 702 W alleles), linked to susceptibility or genetic predisposition to Crohn's disease in humans, was carried out on specimens from 37 Crohn's disease patients and 34 patients without Crohn's disease. Our results show that more than 70 percent of people in Sardinia with Crohn's disease carry at least one of the susceptibility-associated NOD 2/CARD 15 alleles and were infected with Mycobacterium avium subspecies paratuberculosis.
Abstract: The widespread use of ultrasound in screening programmes for chronic liver disease has led to early diagnosis of hepatocellular carcinoma (HCC), and to the observation of some cases of tumour spontaneous regression. This is a rare event whose underlying mechanism is still unclear. We present here a case of spontaneous regression of HCC in a 71-year-old woman with chronic hepatitis and discuss possible aetiologies. None of the causative mechanisms proposed for spontaneous regression of HCC is completely satisfactory, so further studies are necessary to improve understanding of this unusual biological event. Therefore, we stress the importance of accumulating all such cases in the literature, because the clarification of aetio-pathogenic mechanisms may lead to the development of new treatment strategies for HCC.
Abstract: Primary aortoenteric fistulas (PAEF) are rare entities associated with a high mortality. Although several causes have been reported, their occurrence is usually due to erosion of an abdominal aortic aneurysm into the intestinal tract. The most common sites for the fistula are the third and fourth portions of duodenum. The classical triad of gastrointestinal hemorrhage, abdominal mass and abdominal or back pain, though highly suggestive for PAEF, is uncommon. The typical bleeding pattern associated with PAEF is characteristically intermittent, starting with a brief "herald bleeding" followed eventually by major gastrointestinal hemorrhage, often with fatal outcome. The pre-operative examinations are often not helpful and can lead to delayed diagnosis and surgery. In a patient with risk factors for atherosclerosis and significant upper gastrointestinal bleeding in the absence of an evident source, PAEF should be suspected. A high index of suspicion of this condition allows correct diagnosis and definitive treatment to be carried out. If PAEF is suspected and the patient is unstable the surgeon should be prepared to skip the preoperative investigations in favour of early surgical exploration. Definitive treatment includes primary duodenal repair and aortic aneurismal resection with graft "in situ" replacement. The authors present a successfully treated case and stress the importance of clinical suspicion in order to achieve correct diagnosis and treatment.
Abstract: BACKGROUND/PURPOSE: The formation of congenital chordee penis in patients with or without hypospadias is multifactorial and not completely clear. In most cases, after release of all known causes of chordee, "residual" penile curvature can persist. The authors discuss the etiopathogenetic mechanisms of congenital chordee penis and describe their experience in surgical correction of "residual" penile curvature by "ventral separation and outward rotation of corpora." METHODS: In 22 patients with congenital chordee penis with or without hypospadias, "residual" penile curvature was corrected by "ventral separation and outward rotation of corpora." RESULTS: Ventral separation and outward rotation of corpora resulted in satisfactory correction of penile curvature. In only 2 cases of chordee penis without hypospadias was further intervention necessary: a Nesbit's plication was carried out in one and a neourethra placed in the other. At follow-up no residual penile curvature was observed. CONCLUSIONS: An arrest of development of the penis caused by failure of outward ventral rotation of the corpora, may contribute to the formation of chordee penis. When "residual" penile curvature persists, "ventral separation and outward rotation of corpora" can be used to correct this complex malformation.
Abstract: The aim of this study was to evaluate the usefulness of (99m)Tc-tetrofosmin single-photon emission tomography (SPET) in the detection of both primary breast cancer and axillary lymph node metastasis. We studied 192 consecutive patients in whom primary breast cancer was suspected on the basis of mammography and/or physical examination. After intravenous injection of 740 MBq (99m)Tc-tetrofosmin, both planar and SPET scintimammography was performed in all patients using a rectangular dual-head gamma camera equipped with low-energy, high-resolution, parallel-hole collimators. In 175 patients with breast cancer at histology, the per-lesion overall sensitivity of SPET and planar imaging for the detection of breast cancer was 95.8% and 75.9% (P<0.0005), respectively. The sensitivity of SPET and planar imaging was, respectively, 96.5% and 79.5% in palpable (P<0.0005) and 90% and 45% in non-palpable lesions (P<0.01). With regard to lesion size, the sensitivity of SPET and planar imaging was, respectively, 90.5% and 45.2% in lesions < or =10 mm ( P<0.0005), 95.3% and 81.4% in lesions of 11-20 mm (P<0.005), 100% and 84.6% in lesions of 21-30 mm (P<0.05) and 100% and 95.8% in lesions >30 mm (P>0.05). In the remaining 17 patients with benign mammary lesions at histology, per-lesion overall specificity of SPET and planar imaging was 76.2% and 85.7% (P>0.05), respectively. Neither SPET nor planar imaging showed false-positive results in non-palpable lesions or in those < or =10 mm. In 173 breast cancer patients submitted to axillary lymph node dissection (ALND), per-axilla overall sensitivity of SPET and planar imaging in the detection of axillary lymph node metastasis was 93% and 52.3% ( P<0.0005), respectively. The sensitivity of SPET and planar imaging was, respectively, 100% and 82.6% in palpable nodes (P>0.05), 90.5% and 41.3% in non-palpable nodes (P<0.0005), 92.8% and 35.7% in the presence of < or =3 nodes ( P<0.0005) and 93.2% and 68.2% in the presence of >3 nodes (P<0.005). The specificity of SPET and planar imaging was 91% and 100% (P<0.05), respectively. (99m)Tc-tetrofosmin SPET appears to be a reliable method for the detection of both primary BC and axillary lymph node metastasis, and its diagnostic accuracy exceeds that of (99m)Tc-tetrofosmin planar scintimammography. The use of SPET is particularly important in the identification of small non-palpable primary carcinomas and metastatic axillae with < or =3 non-palpable lymph nodes. More extensive use of SPET appears warranted in the management of breast cancer patients.
Abstract: We compared 99mTc-Tetrofosmin P-SPECT with radioguided SN biopsy in 101 T1/T2 BC pts to predict axillary lymph node status. The day before surgery all pts underwent lymphoscintigraphy (LS) to mark the SN, following subdermal injection of 99mTc-colloidal sulphur surrounding the breast lesion. LS was combined with pre and intraoperative gamma probe. Previously, all pts had also undergone P-SPECT. ALND was performed in all cases. The SN(s) was detected in 97/101 cases (96%) by LS and gamma probe; in the 4 missed cases P-SPECT predicted lymph node status. In the 97 comparable cases, radioguided SN biopsy showed a slightly higher accuracy than P-SPECT (94.8% vs 93.8%), but a higher false-negative rate (14.3% vs 8.6%); P-SPECT had a higher NPV (95.2% vs 92.5%). The two procedures when combined achieved 100% accuracy. Radioguided SN biopsy alone had 100% accuracy only in pts with BC < 15 mm. P-SPECT had 3 false negative cases, 2 of which were micrometastatic SNs, and 3 false positives. P-SPECT identified 81.2% of cases with a single node, determined the exact number of nodes in 82.6% of cases with 1 to 3 node and correctly classified 93.7% of pts as having < or = 3 or > 3 metastatic nodes. Radioguided SN biopsy seems indicated in selected, early stage, small BC pts, while P-SPECT shows a high sensitivity independent of primary tumor size, giving additional important preoperative prognostic information. The two procedures combined provided a better axillary lymph node status prediction in T1/T2 carcinomas, and could thus improve ALND pt selection.
Abstract: Granular cell tumors are rare, usually benign neoplasms of soft tissues which most commonly occur in the tongue, skin and subcutaneous tissue. Although the histogenesis is still object of debate, recent immunohistochemical studies and ultrastructural findings support the origin of this neoplasm from the peripheral nervous tissue, most likely from Schwann's cells. Occurrence of this neoplasm in the breast, although uncommon, warrants special attention, since its clinical, mammographic and pathological appearances on frozen sections "may often closely resemble" hose of breast malignancy. The authors analyze and commenton, with special reference to clinical aspects and surgical treatment, a case of benign granular cell tumor of the breast occurring in a 42 year-old woman. The mammographic and clinical findings suggested a breast carcinoma. The correct diagnosis was established by definitive microscopic examination of the paraffin-embedded specimens and the treatment was a simple local excision of the tumour and a small rim of surrounding breast parenchyma. Although the granular cell tumor of the breast is a rare entity, surgeons and pathologists should be aware of its existence in order to avoid inappropriate radical surgery not justified by the benign behavior of the neoplasm.
Abstract: Congenital cystic adenomatoid malformation (CCAM) of the lung is a neonatal disease not often found after the first year of life and extremely rare in adults. Three cases of CCAM, one in a ten-year-old girl and two in adults, are reported. An understanding of this disease is important because, although relatively rare, it is one of the most frequent causes of neonatal respiratory distress. Greater awareness of the condition and its early detection would also reduce the number of cases found at a later age.
Abstract: Carotid-jugular arteriovenous fistulas (AVF) are extremely rare with only 20 cases reported in the literature up to December 1996. The case of a 74-year-old man (the oldest reported in the literature) with abnormal communications between the external carotid artery and the internal jugular vein is reported. The condition was treated by platinum coil embolization via catheterization and by repeated operations to ligate the branches of the external carotid artery, besides removal of the tissue containing the fistula and ligation of the external carotid at its origin. The result was incomplete because about 6 months after the last operation the patient showed the same symptoms, although in a milder form. Until standard treatment is established, the appropriate technique should be decided on a patient-to-patient basis.
Abstract: We describe a case of a mature mediastinal teratoma resected by videothoracoscopy. This new procedure, now widely adopted for many intrathoracic conditions, has proved to be easy, safe, and advantageous also in the treatment of rare tumors, such as mature mediastinal teratomas. We recommend its use in all cases like the one described.
Abstract: One-stage urethral reconstruction was performed using a free graft of labial mucosa and combined labial/bladder mucosa. We present the results of this technique in 12 cases that had a minimum follow-up period of 3 years. Eleven patients had medium penile or posterior hypospadias and one had chordee penis without hypospadias. Urethroplasty with labial mucosa was performed by two techniques: labial mucosa used alone or combined with bladder mucosa. The labial mucosa was harvested from the inner surface of the upper and/or lower lip, depending on which method was used. Seven patients, six with medium penile or posterior hypospadias and 1 with chordee without hypospadias, were given a labial mucosa graft alone; the urethral gap was 3.5 to 6 cm. The other five cases, all with posterior hypospadias, were treated by combined labial/bladder mucosa graft urethroplasty: the urethral gap was 6 to 13 cm. Follow-up (at 3 to 4 1/2 years) showed no complications apart from a urethral fistula in one patient and mild stenosis on the anastomosis in four cases, which required urethral dilatations in the first month after surgery.
Abstract: Nipple secretion is an important clinical symptom in the context of breast pathology second only, in terms of incidence and diagnostic role, to the presence of a mammary nodule. Its importance derives from its possible association with cancer (from 3% to 47%) of which it may be the earliest sign, even if it is most often in relation to a benign pathology. The authors report their experience from 1988 to the present in 60 cases of mammary secretion out of 1200 patients attending the clinic.
Abstract: This retrospective study analyses the value of endoscopic polypectomy as the operation of choice in cases of early invasive colorectal carcinoma located on the adenomatous polyp. Under these conditions the authors outline their therapeutic strategy, based not only on the histological characteristics of lesions, but also on the evaluation of the risk/benefit ratio established in relation to the characteristics of each individual patient.
Abstract: The authors analyse their experience of 30 cases of which 25 underwent surgery. In addition to the onset of complications, indications for surgery were based on the presence of severe painful symptoms which did not respond to medical treatment. Over the past few years the latter have represented one of the main indications with a success rate of between 80-90% of cases. The type of surgery must be personalized to the characteristics of each individual patient on the basis of morphological alterations of the gland, which are easily defined during a preoperative study using CPRE, ultrasonography and CT. Of these, CPRE has been found to be the most reliable in diagnostic terms, since it can detect structural alterations at a relatively early phase and is of considerable value in differential diagnosis, which is at times extremely difficult, with pancreatic carcinoma.
