Endometriosis of the abdominal wall: ultrasonographic and Doppler characteristics.

OBJECTIVES: To describe the sonographic and clinical features of abdominal wall endometriosis (AWE), a frequently misdiagnosed condition. METHODS: This was a retrospective study of 21 consecutive women with pathologically proven endometriosis of the abdominal wall. Ultrasonographic and Doppler examinations were performed, before surgery, with a high-frequency linear transducer. The clinical data and the results of the sonographic examinations were reviewed and described. RESULTS: At ultrasound, all the nodules appeared as discrete solid masses that were less echogenic than the surrounding hyperechoic fat. The nodules had a median diameter of 20 (range, 5-50) mm and in 18/21 (86%) cases the nodules had a round/oval shape. In eight of 21 (38%) women the AWE was located at the umbilicus, in six of 21 (29%) it was between the transverse suprapubic line and the umbilicus, in five of 21 (24%) it was found along the scar of a previous Cesarean section and in two of 21 (9%) it was in the right inguinal canal. The content was homogeneously hypoechoic in 12/21 (57%) women and inhomogeneous in the other nine (43%). The outer borders were invariably ill defined. Scarce blood vessels were found by power Doppler. Cyclic or continuous spontaneous pain at the level of the AWE was present in 19/21 (91%) cases, and two (9%) patients were asymptomatic. CONCLUSIONS: Hypoechoic round/oval nodules with ill-defined borders and a hyperechoic rim should raise the suspicion of abdominal wall endometriosis, even in patients with no history of endometriosis or previous laparotomic surgery. Pressing the ultrasound probe against the nodule should reinforce a suspected diagnosis because of the pain it induces.

Thrombosed aneurysm of ductus arteriosus: a case report.

Spontaneous aneurysms of the ductus arteriosus are rare complications of a patent ductus arteriosus. It is met at any age but it is most commonly seen in children under two months of age. Echocardiography is the best test to diagnose a ductus arteriosus, but actually the role of thoracoscopy is to help in differential diagnosis of mediastinal masses. Surgery should be recommended without delay, to avoid fatal complications, with the resection of the thrombosed aneurysm of the ductus arteriosus.

[Clinical spectrum and management of congenital pulmonary cystic lesions].

INTRODUCTION: Congenital cystic lesions of the lung in children are uncommon but potentially life-threatening and warrant an urgent diagnostic work-up. Pulmonary sequestration (PS), congenital cystic adenomatoid malformation (CCAM), congenital lobar emphysema (CLE), and bronchogenic cyst (BC) are the four major congenital cystic lesions, but they share similar embryologic and clinical characteristics. The purpose of this study is to review our institutional experience with congenital cystic lung disease emphasizing on diagnosis and management. PATIENTS AND METHODS: Between January 1975 and October 2007, 109 patients have been treated, of which 57 males and 52 females, the age ranged from the birth to 13 years. 104 patients presented solitary lesions: CCAM (47), CLE (16), PS (22), BC (19). The remainders 5 patients presented two simultaneous lesions: intralobar PS and CCAM (2), CLE and CCAM (3). RESULTS: All the lesions have been treated surgically: in the first cases, only symptomatic patients underwent surgery, while in the last years, patients have systematically been submitted operated. CONCLUSIONS: A meaningful percentage of CCAM joins to PS and CLE; instead the BC are generally isolated, probably deriving by a more precocious embryogenetic defect. The treatment of these lesions is surgical: CCAM (type I-II) and CLE should be treated promptly in newborns for respiratory distress and pneumothorax; CCAM (type II) and BC generally become symptomatic gradually and expose to degenerative risk; intralobar PS generally becomes symptomatic and surgery prevents the risk of infections. Extralobar PS and the asymptomatic BC are not exempted by surgical approach whenever accidentally described as masses of uncertain nature. Asymptomatic cysts in children should be resected, to avoid later complications of the cysts, which could make operation more difficult. Conservative anatomic resections should be attempted to preserve functional lung tissue. Careful histologic examination of the resection specimen is mandatory to identify occult malignancy. In conclusion a correct embryogenetic organization and a clinical evaluation of the congenital cystic lung diseases allow a precocious and effective surgical timing.

FHIT oncosuppressor gene expression profile in human anal cancers.

The FHIT gene, a member of the histidine triad gene family, is a tumor suppressor gene exhibiting deletions in the majority of human cancers. Aberrant transcripts of this gene have been found in about 50% of esophageal, stomach and colon carcinomas. Little is known about the molecular mechanisms involved in malignant transformation of the lining cells of the anus. In this study FHIT gene expression was investigated in this particular kind of human cancer. FHIT expression was comparatively analyzed at the mRNA level, by RT-PCR, in squamous anal cancers, normal anal tissue and peripheral blood samples. cDNA analyses showed variability in FHIT transcripts, without apparent effects on the predicted amino acid sequence. These different FHIT mRNAs could represent transcripts from an alternative splicing event. Our data indicate that the FHIT mRNA detected in anal cancers and in normal samples is heterogeneous. Immunohistochemical data suggest that the Fhit protein is expressed only in a fraction of the tumor cells, while it is strongly expressed in the epithelial cells of glands of the normal anal mucosa. The absence or poor expression of the Fhit protein in anal cancers suggests a role for this tumor suppressor gene product, as a risk factor, in the onset of this human cancer, as reported before for other human gastrointestinal tumors.

[Video-assisted treatment for biliary atresia]. / Trattamento videoassistito dell'atresia delle vie biliari.

BACKGROUND: The surgical treatment of biliary atresia is still a great challenge for pediatric surgeons. Kasai's operation usually needs a wide, painful, muscle-cutting laparotomies that quite often are followed by pain and peritoneal adhesion. These possible complications may disturb the post-operative course and humper liver transplantation. Advancements in minimally invasive surgery have allowed even the most complex procedures to be approached using these techniques. METHODS: The authors present a case of successful Roux-en-Y laparoscopic portoenterostomy for the treatment of biliary atresia. We report a case of a 3-month-old patient with biliary atresia who weighted Kg 5,300 at the operation. The patient was placed in supine position. The procedure was performed with 4 trocars of 3 mm and 1 of 10 mm. The umbilical site was used for extracorporeal Roux-en-Y enteroenterostomy. CO2 was insufflated at a pressure of 8 mmHg and a flow of 0.5 L/min. A drain was placed through the lower trocar site with the tip near the anastomosis. RESULTS: The procedure was free of neither intraoperative nor post-operative complications. Feeding by nasogastric tube was started after 2 days. Total oral feeding was possible after 8 days. CONCLUSION: Laparoscopic approach to perform Kasai's operation is technically feasible and thanks to a magnified vision, it allows to abtain a good visualization of the portal structures with an adequate retraction of the liver. This procedure can avoid or decrease the post-operative complications such as pain, breathing difficulty, adhesions and resulting in very small scars. Anyway laparoscopic Kasaiportoenterostomy should be done by a surgeon with a good experience in laparoscopic hand-suturing and neonatal experience and with the support of an experienced in neonatal and infantile videosurgery anaesthesiologist.

Expression profile of epidermal differentiation complex genes in normal and anal cancer cells.

Anal cancer originates from a peculiar histological region and provides a useful model for investigating alterations in proliferation and/or differentiation of neoplastic keratinocytes. Epidermal differentiation complex (EDC) genes, which form one of the major gene clusters in the human genome, are involved in the terminal differentiation of epithelial cells and in many instances have been implicated in epithelial tumours. We constructed a DNA macroarray capable of characterising the expression profiles of the entire EDC gene complex in normal mucosa and anal cancer biopsies of seven unrelated patients. Brain tissue and cultured keratinocytes were used as controls. All anal cancer samples showed expression profiles in which none of the EDC genes was silent, as evaluated by phosphor-imager analysis. Variance analysis showed significantly lower expression of SPRR2 with respect to SPRR1 or SPRR3, and significantly higher expression of S100A8 than of other S100A subfamily members. At hierarchical clustering analysis, the four basaloid anal cancer cases conglomerated in the top five positions. The macroarray method used by us provides the first demonstration of the expression profile of the EDC gene family in anal cancer, and is capable of producing significant information on the subgrouping of epithelial tumours such as anal cancer.

Giant retroperitoneal angiomyolipoma. A case report.

We discuss a case of a giant renal angiomyolipoma. A 28 year-old woman presented with a history of a painless and swelling abdominal mass. A computerized tomography (CT) scan of the abdomen demonstrated a 27 x 13 x 11 cm tumor in the right retroperitoneum. At laparotomy, a wide excision of the mass was performed and the histopathological examination of the resected specimen revealed the presence of an angiomyolipoma. The clinical, radiological and pathological findings of this case are reported with a review of the literature.

Splenic mucinous cystadenocarcinoma arising in heterotopic pancreatic tissue.

A mucinous cystadenocarcinoma along with remnants of normal pancreatic tissue was discovered in the spleen of a 21-year-old woman. Extensive clinical, radiological, ultrasound and computed tomography investigation revealed that the patient's pancreas and ovaries were unremarkable. We presume an origin from heterotopic pancreatic tissue for this neoplasm and present a review of the literature in this regard.

A rare association of inlet patch with laryngospasm: a report of two children and literature review.

The inlet patch (IP) is an area of heterotopic gastric mucosa in the cervical esophagus commonly seen during upper endoscopy. Although generally asymptomatic IP has been associated with esophageal and supraesophageal symptoms and, though rare, in adult with malignant transformation. We describe two cases of recurrent episodes of laryngospasm associated with IP. In both cases there was a good response to prolonged acid suppression therapy.

[Lymph node dissemination of a serious Pneumocystis carinii respiratory infection in AIDS: histopathological and ultrastructural aspects]. / Disseminazione linfoghiandolare di una grave infezione respiratoria da Pneumocystis carinii in corso di AIDS: aspetti istopatologici ed ultrastrutturali.

A case report of isolated lymph node extension of atypical respiratory Pneumocystis carinii infection which occurred in an HIV-infected patient undergoing aerosolized pentamidine prophylaxis is presented with its histopathological and ultrastructural features. AIDS-associated extrapulmonary and disseminated pneumocystosis are discussed on the ground of their frequency, localizations, risk factors, clinical presentation, and outcome.

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.

In a low-risk pregnant patient at 21 weeks' gestation, ultrasound revealed shortening of fetal long bones compatible with achondroplasia. Funipuncture was performed and DNA analysis of fetal blood demonstrated the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia. After termination of the pregnancy, necropsy confirmed the prenatal diagnosis. A certain sonographic diagnosis of fetal de novo achondroplasia is rarely possible prior to viability. The specificity of the FGFR3 causative mutation has added a new diagnostic option which can be applied prenatally for diagnostic validation.

AIDS-related visceral aspergillosis: an underdiagnosed disease during life?

Five out of nine consecutive patients with HIV-related visceral aspergillosis observed by us since 1984 were diagnosed only at necropsy examination. The histopathological features of these five patients [two with isolated pneumonia, one with central nervous system (CNS) involvement, one with brain abscess and respiratory disease and one with pulmonary, pleural and kidney infection] have been evaluated according to epidemiological, clinical and radiological features. On the basis of our experience, life-threatening aspergillosis, which is often misdiagnosed or missed in the setting of HIV infection and AIDS, should be suspected in patients with far-advanced underlying disease and unexplained signs and symptoms, even in the absence of some presumed risk factors (i.e. neutropenia and prior steroid treatment). Plain chest radiography and bronchoscopy with broncholaveolar lavage may fail to reveal respiratory disease, CNS aspergillosis is not necessarily associated with suggestive neuroradiological features and disseminated disease may present with multiorgan failure. The unfavorable outcome of this emerging AIDS complication can be improved only by earlier diagnosis based on invasive techniques and appropriate and timely treatment.