Biomedical subjects
Publications and source records attributed to M Bisceglia.
We review the current classification of the central nervous system neoplasms focusing on grading and new clinicopathological entities. Moreover a brief synopsis on up to date treatments in different groups of neoplasms is given.
A 37-year-old man, previously submitted to colectomy for ulcerative pancolitis unresponsive to medical therapy, presented with nausea, vomiting, epigastric pain, and bloody diarrhea. An upper gastrointestinal endoscopy revealed mucosal friability, petechiae, and erosions throughout the duodenum, whereas prestomal ileum showed large ulcers and pseudopolyps. Histologically, a dense inflammation chiefly composed of lymphocytes and plasma cells with few neutrophils was detected. No bacteria, protozoa, and fungi could be detected. Despite intensive care, intra-1194 venous antibiotics and steroids, the patient died of diffuse intravascular coagulation and multiorgan failure. At post-mortem examination severe ulcerative lesions were observed scattered throughout the duodenum up to the distal ileum. The dramatic clinical presentation with fatal outcome, the widespread ulcers throughout the intestine, and the histological picture are peculiar features in our patient which can not be ascribed to any type of the ulcerative jejunoenteritis so far reported. Patients with pancolitis and diffuse ileal involvement do not necessarily have Crohn's disease but rather may have ulcerative colitis.
We present a prospective study on the long-term efficacy of percutaneous ethanol injection (PEI) treatment for thyroid cystic nodules. Among patients referred for symptomatic thyroid cystic nodules who had relapsed after two aspirations or whose nodules could not be aspirated due to the thickness of the cystic fluid, PEI was given when surgery was either refused or contraindicated. Forty-three patients were treated; the mean basal volume of the cysts was 38.4 mL. The purpose of the study was to evaluate long-term efficacy of PEI treatment on: (1) amelioration of symptoms and signs of local compression and (2) nodule volume reduction. In three subjects (7%), PEI failed to induce a significant (>50%) nodule reduction, so that surgical treatment was performed. In 40 patients (93%), an impressive nodule shrinkage was observed, reaching a plateau after 24 months (volume reduction = 91.9%+/-11.4%). A new PEI session was needed in two patients in whom a recurrence was noted within the first 6 months. After 6 months, no significant (> or =1 mL volume) nodule regrowth was observed up to 60 months. Both symptoms and tracheal displacement rapidly (within 1 month) and significantly (p<0.01) improved. After PEI, mild pain was the only side effect observed. No suspicious cytology was observed in any residual nodule greater than 1 mL 6 and 24 months after the last PEI session. Our data suggest that PEI is a first-line safe, effective, probably definitive, treatment for cystic thyroid nodules for which surgery is either refused or contraindicated.
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BACKGROUND: Growth hormone (GH) stimulates intestinal growth and differentiation and promotes water and ion absorption in the rat intestine. Epidermal growth factor has similar effects, which involve tyrosine kinase activity. The effects of growth hormone on ion transport and cell growth and the role of tyrosine kinase in these effects were examined in a human-derived intestinal cell line (Caco-2). METHODS: For transport study, electrical parameters were measured in human intestinal Caco-2 cell monolayers mounted in Ussing chambers. Cell growth was monitored by counting and 3H-thymidine incorporation in the presence and absence of growth hormone. The role of tyrosine kinase was investigated by using its specific inhibitor genistein. RESULTS: The addition of growth hormone induced a rapid, Cl- -dependent, decrease in short-circuit current without affecting tissue conductance, which is consistent with an anion-absorptive effect. Incubation with growth hormone increased cell count by 85% and 3H-thymidine incorporation by 64% versus the count in control specimens. The absorptive and trophic effects of growth hormone were dose-dependent, and the maximum effective concentration was identical for each effect. Genistein blocked the growth hormone effect on ion transport and cell growth. CONCLUSIONS: Growth hormone stimulates ion absorption and cell growth in human enterocytes. Both effects result from a direct growth hormone-enterocyte interaction, and both require tyrosine kinase activity. Growth hormone may have therapeutic potential in intestinal diseases characterized by epithelial atrophy and loss of water and electrolytes.
Solitary or multiple osteochondromas, which are benign bone tumors that usually occur in the long bones, are rarely found in the vertebral column. When present in the spine, however, they have a predilection for the cervical or upper thoracic regions. The authors present the case of a solitary osteochondroma arising from the left L-5 articular process that contributed to sciatica; complete cure was achieved following its removal. It is possible to speculate that the cartilage of secondary ossification centers can be the origin of aberrant islands of cartilaginous tissue that cause the osteochondroma to form. The more rapid the ossification process of these centers, the greater the probability that aberrant cartilage will form. Therefore, the fact that osteochondromas are more frequently located in the higher segments of the vertebral column could be explained by the different durations of the ossification processes in these centers, which increase gradually below the cervical segments.
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"Central core disease" (CCD) is a rare disease of infancy and childhood and represents the prototypic member of a group of muscular disorders known as "congenital, benign (non progressive) myopathies". It is very uncommon to diagnose cases affected by CCD in youth and adulthood. The disease is mainly familial with a dominant autosomal pattern of inheritance, but sporadic cases are known to occur. The candidate gene has been localized on chromosome 19q13.1, and is allelic with RYR-1 ("ryanodine receptor" [calcium release channel gene]), the gene responsible of the susceptibility to malignant hyperthermia. In some familial cases of CCD a susceptibility to malignant hyperthermia was also recognized. The diagnosis is only made based on muscular biopsy, which documents some peculiar morphological abnormalities, i.e. focal losses of oxidative enzyme activities, exclusively in type I muscular fibres. The basis for the loss of such activities is represented by an almost total absence of mitochondria and sarcoplasmic reticulum in those focal regions of muscle fibres. Cores may be "structured" and "unstructured" based on the reactivity with myosin ATPases, which ultrastructurally means preservation or destruction of myofilaments. Both structured and unstructured cores qualify this disease in the same way. The authors have observed two cases of CCD in patients in their non infantile age. Both diagnoses were accomplished by means of muscular biopsy, and the results of their studies in both cases are herein presented and discussed.
Muscular hamartoma (MH) is a rare tumor-like lesion of the breast, and only 22 cases have been reported in the literature. We report an additional case of MH of the breast, giving a new immunocytochemistry-based insight into the histogenesis of the smooth muscle component. The expression of CD34 antigen in smooth muscle cells suggested that MH originates from stromal cells via leiomyomatous metaplastic changes. This hypothesis was supported by the evidence that stromal cells in the normal parenchyma nearby the hamartoma were positive for CD34 antigen and, focally, also positive for smooth muscle markers (alpha-smooth muscle actin and desmin). A complete list of differential diagnoses and a review of the literature on the topic are provided. Although the use of the term "muscular hamartoma" could be considered inappropriate because of the absence of smooth muscle tissue in the normal breast, the authors underline that this designation can be easily accepted if the histogenesis of the heterologous component is regarded as a result of a stromal cell metaplastic change.
We report a rare case of "benign spindle cell tumor of the breast with prominent adipocytic component" and present a review of the literature on the topic. The close morphologic resemblance with myofibroblastoma and spindle cell lipoma of the breast is emphasized and used as a starting point for diagnostic and histogenetic considerations. Although immunocytochemistry and electron microscopy showed features favoring a diagnosis of spindle cell lipoma, they were not conclusive. The tumor described here contributes to widen the spectrum of the benign spindle cell tumors of the breast variously named "benign spindle cell tumor," myofibroblastoma, spindle cell lipoma, and fibroma. It is important to distinguish this lesion from spindle cell metaplastic carcinoma and aggressive fibromatosis.
Previous evidence suggested a role of enterotoxin in the pathophysiology of cryptosporidiosis. If so, antisecretory drugs should be effective in reducing diarrhea. We evaluated the in vivo and in vitro efficacy of octreotide, which possesses antisecretory effects, for cryptosporidial diarrhea. Two children with severe cryptosporidial diarrhea were treated with octreotide. The volume modifications and chemical composition of stools were determined. Fecal supernatant was added to Caco-2 cell monolayers mounted in Ussing chambers with or without serosal octreotide and electrical parameters were monitored. Octreotide was effective in reducing the stool volume and fecal Na+ concentration. Fecal supernatant induced an enterotoxin-like increase in transepithelial potential difference. Octreotide induced a dose-dependent decrease in basal potential difference, consistent with an absorptive effect. In cells pretreated with octreotide, fecal supernatant induced an increase in the potential difference, whose magnitude and duration were significantly reduced compared to untreated cells. These results provide in vivo and in vitro evidence for the secretory nature of cryptosporidial diarrhea and for the efficacy of octreotide through a direct interaction with the enterocyte.
BACKGROUND: The urea breath test (UBT) has been proposed as the most accurate test for diagnosing Helicobacter pylori infection. The aim of this work was to evaluate the accuracy of the UBT and to compare the results with histologic and endoscopic findings in H. pylori infected patients. METHODS: One-hundred-and-seventy-two consecutive dyspeptic outpatients were studied by means of endoscopy (with histology and culture), UBT (75 mg 13C-urea), and serology. Gastritis was classified in accordance with the Sydney criteria. In H. pylori positive patients, the bacterial load was assessed semiquantitatively, the number of bacteria in histologic specimens being counted. UBT results were expressed either as percentage cumulative dose of 13CO2 excreted at 1 h (CD60) or delta over baseline at 30' (DOB30). RESULTS: Of 172 patients, 126 (73%) were H. pylori positive on histology or culture. Using a cut-off value of 3.3/1000 for DOB30, the sensitivity, specificity and accuracy of the UBT were 96%, 93.5%, and 95.3%, respectively. A significant correlation was observed between DOB30 values and intragastric bacterial load (r = 0.32). Moreover, a significant difference in DOB30 values was found between patients sorted by the depth of inflammation (chi(2) = 4.36, p = 0.036). No correlation was observed between DOB30 and endoscopic findings in H. pylori positive subjects. CONCLUSIONS: The UBT is an accurate non-invasive diagnostic tool and can be used to predict both the intragastric bacterial load and the severity of related gastritis.
Muir-Torre syndrome (MTS) is an autosomal dominant disease defined by the coincidence of at least one sebaceous skin tumor and one internal malignancy. About half of MTS patients are affected by colorectal cancer. In a subgroup of MTS patients the disease has an underlying DNA mismatch-repair (MMR) defect and thus is allelic to hereditary nonpolyposis colorectal cancer (HNPCC). The purpose of this study was to examine to what extent germ-line mutations in DNA MMR genes are the underlying cause of the MTS phenotype. We ascertained 16 MTS patients with sebaceous skin tumors and colorectal cancer, and we examined their skin and visceral tumors for microsatellite instability. All the patients exhibited high genomic instability in at least one tumor. The search for germ-line mutations in the hMSH2 and hMLH1 genes in 13 of the MTS patients revealed truncating mutations in 9 (69%): eight mutations in the hMSH2 gene and one in the hMLH1 gene. This is the first systematic search for germ-line mutations in patients ascertained on the basis of sebaceous skin tumors. Our results indicate that (1) MTS patients exhibit significantly more mutations in the hMSH2 gene than in the hMLH1 gene; and (2) the subpopulation of MTS patients who are also affected by colorectal cancer, irrespective of family history and age at onset of tumors, may have a likelihood for an underlying DNA MMR defect similar to that for patients with a family history fulfilling the strict clinical criteria for HNPCC.
Preliminary clinical evidence suggests that Helicobacter pylori may be associated with diarrhea through its vacuolating toxin (VacA). To establish whether VacA induces intestinal secretion, epithelial damage, or both, purified pH-activated VacA was added to Caco-2 cell monolayers mounted in Ussing chambers, and electrical parameters were monitored. Mucosal addition of VacA induced an increase in short circuit current, consistent with enterotoxic effect. The effect was time- and dose-dependent and saturable. It was not found if the toxin was not pH-activated, added to the serosal side, or preheated. In cells preloaded with the Ca2+ buffering compound BAPTA/AM or with the Cl- channel inhibitor 5-nitro-2-3-(3-phenylpropylamino)benzoic acid, short circuit current did not change, indicating that VacA induces activation of Ca2+-dependent Cl- channels. VacA did not show cytopathic effects, as judged by tissue resistance. These results support the hypothesis that H. pylori may be associated with diarrhea through production of VacA.
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A 36-year-old woman presented with intermenstrual spotting and was found to have a cystic mass involving the uterine cervix on a pelvic ultrasound examination. A necrotic and hemorrhagic tumor was excised by hysterectomy and processed for light and electron microscopic investigation and molecular analysis. Microscopic examination revealed a small round cell tumor that immunohistochemical studies (including staining for the highly restricted surface antigen p30/32MIC2) and ultrastructural studies indicated was an extraosseous Ewing's sarcoma (EES)/primitive neuroectodermal tumor (PNET). This diagnosis was established by detection of EWS/ERG fusion transcript through reverse transcription polymerase chain reaction (RT-PCR) with nested primers. Full body computed tomography failed to detect any extrauterine tumor, and the patient is clinically free of disease 18 months after hysterectomy. This case represents the first report of a primary EES/PNET arising in the uterine cervix.
A case of a CA 19-9 producing cystadenoma with mesenchymal stroma originating from the common hepatic duct is presented, with a review of the literature. The findings of ultrasound and CT scans and the endoscopic retrograde cholangiopancreatography picture allowed the establishment of a confident pre-operative diagnosis. Although there was an elevation of CA 19-9 serum levels, the resected specimen did not show any malignant focus at pathologic examination. After surgical excision, CA 19-9 serum levels returned to normal.