Gonadal function in males with autoimmune Addison's disease and autoantibodies to steroidogenic enzymes.

Steroidogenic enzyme autoantibodies (SEAbs) are frequently present and are markers of autoimmune premature ovarian failure (POF) in females with autoimmune Addison's disease (AAD). The prevalence and significance of SEAbs in males with AAD have not yet been defined. We studied the prevalence of SEAbs in a large cohort of males with AAD and assessed the relationship between SEAbs positivity and testicular function. A total of 154 males with AAD (mean age 34 years) were studied. SEAbs included autoantibodies to steroid-producing cells (StCA), detected by immunofluorescence, and steroid 17α-hydroxylase (17α-OHAbs) and side chain cleavage enzyme (SCCAbs) measured by immunoprecipitation assays. Gonadal function was evaluated by measuring follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone (TT), sex hormone-binding globulin (SHGB), anti-müllerian hormone (AMH) and inhibin-B (I-B). Twenty-six males, 10 SEAbs((+)) and 16 SEAbs((-)), were followed-up for a mean period of 7·6 years to assess the behaviour of SEAbs and testicular function. SEAbs were found in 24·7% of males with AAD, with the highest frequency in patients with autoimmune polyendocrine syndrome type 1 (APS-1). The levels of reproductive hormones in 30 SEAbs((+)) males were in the normal range according to age and were not significantly different compared to 55 SEAbs((-)) males (P > 0·05). During follow-up, both SEAbs((+)) and SEAbs((-)) patients maintained normal testicular function. SEAbs were found with high frequency in males with AAD; however, they were not associated with testicular failure. This study suggests that the diagnostic value of SEAbs in males with AAD differs compared to females, and this may be related to the immunoprivileged status of the testis.

Realdo Colombo's "De Re Anatomica": the renaissance origin of the term "placenta" and its historical background.

Over the centuries, great interest has been devoted to the placenta and to its highly symbolic significance. The Renaissance represented the age of historical and cultural transition between classical and modern scientific paradigms. In the medical setting, Realdo Colombo represents one of the protagonists of this revolution. In his masterpiece, "De Re Anatomica", he revolutionized the former medical perspective. We present a passage from this book, which carries invaluable information on the Renaissance viewpoint on pregnancy and placental biology. The connections between Colombo's theories and the previous medical tradition are also analysed.

Proximal-type epithelioid sarcoma of the mons pubis: report of a case.

INTRODUCTION: Proximal-type epithelioid sarcoma (PES) represents an extremely rare and aggressive form of soft tissue neoplasm, typically presenting as a painless subcutaneous nodule in the trunk often located in the genital area. CASE REPORT: A 46-year-old female was subjected to the excision of a growing soft tissue mass in the mons pubis that, at histology, was identified as PES. The tumor showed an extreme aggressiveness involving subsequently adjoining structures and lymph nodes despite subsequent wide surgical resections during the following months. DISCUSSION: Gynecologists should pay careful attention to all soft tissue masses of the perineal area or external genitalia. It is important to know the possible genital localization of PES which, although rare, is an aggressive high-grade soft tissue tumor with a deceitful behavior, poorly sensitive to chemotherapy and radiotherapy. Surgery, though wide and demolitive, often fails to obtain the necessary radicality.

Preterm premature rupture of membranes, chorioamnion inflammatory scores and neonatal respiratory outcome.

OBJECTIVE: To evaluate whether histological chorioamnionitis (HCA), in the setting of preterm premature rupture of membranes (PPROM), affects infant respiratory outcome. DESIGN: A prospective histological study on 287 consecutive placentas was performed in preterm infants (

Endometrial cancer: asymptomatic endometrial findings. Characteristics of postmenopausal endometrial cancer.

Endometrial cancer affects patients at every age, however it occurs more frequently in menopause (> 50) and in postmenopause (> 70). The most frequent symptoms are bleeding and vaginal discharge. When hematometra or pyometra is present the patient may feel pain. In some cases endometrial adenocarcinoma is asymptomatic and the diagnosis is casually made during ultrasound examination or by histological examination of a uterus surgically removed for other indications. In these cases the most frequent findings are polyps and abnormally increased thickness of the endometrial mucosa. In postmenopause polyps and abnormal endometrial thickness are usually limited to a small area and surrounded by atrophic mucosa. Higher incidence rates of endometrial cancer were correlated with polyps and an increased number of serous type tumors were identified in the > 65-year age group. Endometrial carcinoma may be estrogen correlated or non-estrogen associated. Patients in postmenopause are often affected by non-estrogen correlated endometrial carcinoma. According to Kurman and other authors the first type of endometrial adenocarcinoma (estrogen correlated) is characterized by low-grade malignancy. On the contrary, non-estrogen correlated neoplasia is more aggressive. In our case series including 102 women aged > 70 years with endometrial carcinoma we found that survival was correlated with stage and grading - early stages were the most frequent and the grade increased with stage. In fact all the patients with relapses had grade 2 or 3 adenocarcinomas. Thirty-one patients > 70 years (30.69%) had a non-endometrioid type of cancer.

Efficacy and safety of nadroparin in the treatment of pregnant women with antiphospholipid syndrome: a prospective cohort study.

The optimal therapeutic management of patients with antiphospholipid syndrome (APS) during pregnancy is debatable. In the present prospective cohort study the use of a low molecular weight heparin (LMWH) (nadroparin), administered alone twice daily in 30 pregnant women who were diagnosed with APS on the basis of the current classification criteria, is evaluated. Dosage was adjusted according to anti-Xa levels in the patients as the pregnancies progressed. Three women, in whom an important gradual fall in platelet count in the first trimester did not respond to increased nadroparin doses, were shifted to a second-line treatment protocol. Fetal loss occurred in two of the 27 remaining women (7.40%), while 25 (92.59%) delivered 25 live infants, between the 32nd and 40th weeks of gestation. No fetal problems were registered during pregnancies, while maternal complications occurred in two of the 25 patients (8%). Moreover, there were no thrombotic events in any of the women during the study. Patient compliance was good and only minor side-effects were reported. The results of this study indicate that nadroparin alone is useful and safe in the management of pregnant patients with APS. However, in consideration of the good pregnancy outcome obtained in patients with only pregnancy morbidity when heparin and aspirin were used together, other studies comparing nadroparin twice daily with once daily plus Aspirin would be useful to ascertain which is more effective in these patients.

Transcriptional downregulation of tight junction protein ZO-1 in active coeliac disease is reversed after a gluten-free diet.

UNLABELLED: Coeliac disease is an autoimmune enteropathy characterized by an enhanced permeability of the intestinal epithelial barrier. In epithelial cells paracellular permeability is regulated by intercellular tight junction. The cytoplasmic protein ZO-1 interacts directly with F-actin and plays a pivotal role in the structural and functional organization of tight junction. AIM: The aim of this study was to investigate the expression and localization of ZO-1 in the intestinal mucosa of coeliac patients. PATIENTS AND METHODS: Twenty patients with active coeliac disease, seven of whom underwent a repeat biopsy following a gluten-free diet and 27 control subjects, were studied. In all subjects, three biopsies were obtained from distal duodenum during upper gastrointestinal endoscopy. ZO-1 protein localization and levels were detected by immunofluorescence followed by confocal microscopy analysis and immunoblotting. ZO-1 mRNA expression was assessed by RT-PCR. F-actin distribution was also investigated. RESULTS: In patients with active coeliac disease, both ZO-1 protein levels and mRNA were clearly reduced. Cytoskeletal organization was disrupted with F-actin staining concentrated at the subcortical and basal surface regions. Abnormalities in ZO-1 expression and actin organization were reversed after a gluten-free diet. CONCLUSIONS: In active coeliac disease, ZO-1 protein expression is downregulated at the transcriptional level in association with F-actin redistribution. These changes are completely reversed after a gluten-free diet and could contribute to the increased intestinal paracellular permeability observed in this disorder.

Epidermoid cyst and primary trabecular carcinoid of the ovary: case report.

In the literature and in our experience epidermoid cysts and carcinoids of the ovary are rare benign pathologies which occur more frequently in younger women. They probably are a one-sided development of a teratoma, which arise from germ cells after the first meiotic division due to either a meiosis I or a meiosis II non dysjunction. Diagnosis is possible only with histological examination and immunohistochemistry which allow us to differentiate carcinoids from sex-cord tumors and ependymomas. Prognosis is very good because the rate of malignant transformation is 1.4%-2% and the rate of complications is 14%. Thus conservative surgical therapy associated with long-term follow-up is the treatment of choice.

Prevalence of coeliac disease in primary biliary cirrhosis and of antimitochondrial antibodies in adult coeliac disease patients in Italy.

BACKGROUND: Although an association between primary biliary cirrhosis and coeliac disease has recently been reported in Northern Europe, there are still conflicting data concerning this issue. AIM: To evaluate both the prevalence of coeliac disease in a series of primary biliary cirrhosis patients and that of antimitochondrial antibodies in a series of adult biopsy proven coeliac disease patients from Northern Italy. PATIENTS AND METHODS: A total of 87 primary biliary cirrhosis patients (79 female, 8 male) were screened for both IgA-transglutaminase antibodies and antiendomysium antibodies and, in those with either IgA-transglutaminase antibodies or antiendomysium antibodies positivity, upper endoscopy with distal duodenum biopsy was offered. In those who refused upper endoscopy, the intestinal permeability test with lactulose/mannitol excretion was performed. RESULTS: Antiendomysium antibodies positivity was detected in 3 subjects (3.4%), all of whom had serum IgA-transglutaminase antibodies above the normal range, and fulfilled the diagnosis of coeliac disease. Of 21 other patients with serum IgA-transglutaminase antibodies above the normal range, 17 underwent upper endoscopy which revealed normal duodenum architecture. The remaining 4 patients underwent the lactulose/mannitol excretion test which was within the normal range. Sera from 108 adult coeliac disease patients were tested for antimitochondrial antibodies and positivity was found in 4 patients (3.7%): all had normal liver biochemistry tests, whereas 2 of them also presented thyroid disease. Antibodies directed to the 74-kDa polypeptide of antimitochondrial antibodies were found in 3 out of 4 antimitochondrial antibodies+ve patients. CONCLUSIONS: These results suggest an association between primary biliary cirrhosis and coeliac disease similar to that observed in the Northern European series. In conclusion, screening for coeliac disease with antiendomysium antibodies in primary biliary cirrhosis is justified, and screening for antimitochondrial antibodies is advisable in adult coeliac disease patients.

Duodenal periampullary gangliocytic paraganglioma: report of two cases with immunohistochemical and ultrastructural study.

We report two cases of Gangliocytic Paraganglioma (GP) of the ampulla of Vater occurring in a 63-year-old and a 34-year-old individual. The patients were both admitted for a long history of intermittent gastrointestinal bleeding and abdominal discomfort, with no other symptoms. At endoscopy, the GP appeared as a polypoid, ulcerated mass in the ampullar region, measuring 2.5x1.8 and 2 cm, respectively. Microscopically, the tumors showed similar features and were composed of epithelial cells (more than 50%), spindle cells, and ganglion-like cells. The epithelial cells showed clear cytoplasm and formed nests (zellballen or paraganglioma-like groups), and less frequently, cords (carcinoid-like), extending to mucosa and submucosa. Ganglion cells were sparse, constantly associated with the spindle cells. Both epithelial and ganglion cells were synaptophysin, chromogranin A, and anti-neurofilament immunoreactive. The spindle cells were all S-100 positive. Ultrastructural studies revealed dark and light cells, rare elongated cellular processes, secretory granules, and fine fibrils resembling neurofilaments. The histogenesis of GP is still a matter of debate, however its neoplastic nature is supported by the occasionally reported malignant evolution.

Rectosigmoid endometriosis: diagnosis and surgical management.

The recurrence of endometriosis varies from 6% to 10% and, among the non-gynaecological sites, the bowel is involved in 12%-37%. Various symptoms, such as dysmenorrhea, dyspareunia, chronic pelvic pain, diarrhoea, constipation, cyclic rectal bleeding, colic-abdominal pain up to intestinal occlusion characterize this pathology. Surgery seems to be the best treatment especially for gastrointestinal symptoms; conservative surgery should be performed, particularly in young patients. Four cases of intestinal endometriosis were reevaluated.

Role of fine-needle aspiration cytology in the preoperative evaluation of smooth muscle tumors.

A preliminary study was undertaken to assess the feasibility and the diagnostic role of fine-needle aspiration cytology (FNAC) in the preoperative evaluation of eight uterine smooth muscle tumors manifesting as single large masses with signs of growth. Percutaneous FNAC was performed under echographic control with a 22-gauge needle and the material was stained according to conventional techniques. Histology of surgically resected specimens was available for final diagnosis and comparative analysis in all the cases, including five leiomyomas (LM), one smooth muscle tumor of uncertain malignant potential (TUMP), and two low-grade leiomyosarcomas (LMS). Cellularity, as indicated by the density (crowding) of nuclei reflecting the amount of cytoplasmic volume, and the cohesiveness of the tissue fragments in the smears appeared to be the most important diagnostic parameters in the distinction between LM and LMS. LM usually showed few scattered poorly cellular fragments of highly cohesive tapering cells without nuclear crowding and with abundant cytoplasm. LMS usually showed a large number of single cells and fragments of loosely arranged tapering cells with nuclear enlargement and crowding and ill-defined scanty cytoplasm. Borderline forms such as TUMP were hardly distinguishable from LMS and LM. FNAC appears to be a feasible preoperative procedure in uterine smooth muscle tumors and may play a diagnostic role, especially in distinguishing frankly benign from overtly malignant forms.