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PubMed1992

[Narrowing of the palpebral fissure as the first symptom of extensive osteoma with orbital involvement].

Unilateral narrowing of palpebral fissure and moderately impaired visual acuity induced a 14 years old woman to consult an ophthalmologist. Neuroradiological examination revealed a large osteoma starting from the ethmoid cells and invading both the orbit and the cranial cavity. This case illustrates that proptosis may be absent even in cases of extensive and compact orbital tumors. Therefore, exophthalmos is a common but not an indispensable sign of an orbital tumor. In Gardner's syndrome osteomas are associated with soft tissue tumors, intestinal polyposis and colonic adenomatosis that ultimately progresses to colorectal cancer. This association is frequent enough that a colon examination should be suggested to all patients with osteoma.

Adolescent↗
PubMed2004

Anesthesia for proteus syndrome.

Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable affecting tissues in a mosaic pattern. A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies. In addition to the pathological findings of this syndrome, potential complications such as difficult intubation, pulmonary hypertension, and pulmonary thromboembolism necessitate a careful preoperative and anesthetic preparation. MRI was performed under general anesthesia. There were no anesthetic complications. There are few previous reports on anesthesia in a patient with Proteus syndrome.

Anesthesia, General↗
PubMed2002

Controversy: PPARgamma as a target for treatment of colorectal cancer.

Colorectal cancer (CRC) represents a significant cause of morbidity and mortality worldwide. Recently, ligands for the nuclear hormone receptor peroxisome proliferator-activated receptor gamma (PPARgamma) have exhibited promise in the treatment of CRC. For example, activation of PPARgamma reduces the proliferation of cultured CRC cells grown in vitro or in vivo using the nude mouse xenograft model of tumor growth. Furthermore, agonists of the receptor also reduce the development of preneoplastic lesions in a model of carcinogen-induced CRC in rats. However, ligands for the receptor paradoxically enhance intestinal adenoma formation in another murine model of intestinal polyposis, the APC(Min) mice. These disparate results may be due to the inherent limitations of the APC(Min) mouse as a model for humans with CRC. Finally, genetic studies identifying loss of function mutations of PPARgamma in human CRC specimens strongly suggest a tumor suppressive role for the receptor during the development of CRC.

Animals↗
PubMed2004

Regulatory mechanism and physiological role of cytosolic phospholipase A2.

Cytosolic phospholipase A2alpha (cPLA2alpha) preferentially hydrolyzes phospholipids containing arachidonic acid and plays a key role in the biosynthesis of eicosanoids. This review discusses the essential features of cPLA2alpha regulation and addresses new insights into the functional properties of this enzyme. Full activation of the enzyme requires Ca2+ binding to an N-terminal C2 domain and phosphorylation on serine residues. Ca2+ binding induces translocation of cPLA2alpha from the cytosol to the perinuclear membranes. Serine phosphorylation is mediated by mitogen-activated protein kinases (MAPKs), Ca2+/calmodulin-dependent protein kinase II, and MAPK-interacting kinase Mnk1. Interaction with proteins and lipids, which include vimentin, annexins, NADPH oxidase, phosphatidylcholine, phosphatidylinositol 4,5-bisphosphate (PIP2), and ceramide-1-phosphate, can also modulate the activity of cPLA2alpha. Recent evidence has established the physiological and pathological roles of cPLA2alpha using cPLA2alpha knockout mice. This enzyme has been implicated in fertility, striated muscle growth, renal concentration, postischemic brain injury, arthritis, inflammatory bone resorption, intestinal polyposis, pulmonary fibrosis, acute respiratory distress syndrome, and autoimmune encephalomyelitis. Now novel three paralogs, cPLA2beta, cPLA2gamma, and cPLA2delta, have been identified in humans. cPLA2gamma is distinct from others in that it is farnesylated and lacks the C2 domain. Biological roles for these new enzymes have not yet been defined.

Cytosol↗
PubMed2001

Clinical potential of cyclo-oxygenase-2 inhibitors.

On the basis of their reduced potential to cause injury to the gastroduodenal mucosa, cyclo-oxygenase (COX)-2-selective inhibitors were developed and marketed as a safer alternative to traditional nonsteroidal anti-inflammatory drugs (NSAIDs). This manuscript reviews the major steps leading to the introduction of COX-2-selective inhibitors into clinical practice, from the identification of the COX isoenzymes to their various roles in physiological and pathological processes. The available data show that COX-2 inhibitors have a favourable safety profile and are at least as effective as traditional NSAIDs for the treatment of pain and inflammatory conditions with a reduced incidence of gastrointestinal complications. Emerging evidence points to new and unanticipated effects from these agents. COX-2 inhibition appears to play an important role in the modulation of intestinal polyposis and colorectal carcinogenesis. Additionally, COX-2 expression may be associated with inflammatory responses leading to the occurrence of Alzheimer's disease and potentially, COX-2 inhibitors could be used to retard the progression of this condition. However, by decreasing prostacyclin production, COX-2 inhibitors may lead to increased prothrombotic activity and increase the risk of cardiovascular events. Until further large-scale prospective studies are performed, and the magnitude of these potential risks is quantified, COX-2 inhibitors should be used with caution in patients at risk for cardiovascular morbidity.

Animals↗
PubMed1993

Bloom's syndrome complicated by myelodysplastic syndrome and multiple neoplasia.

The patient, a Japanese male born to a highly consanguineous family, was diagnosed as Bloom's syndrome at the age of 33 when he presented with diabetes mellitus and refractory anemia with excess blasts. Chromosome abnormalities of bone marrow cells included 5q-, -7/7q-, and unusual translocations. During the ensuing years, he developed squamous cell carcinoma of the external auditory meatus, adenocarcinoma of the colon, and squamous cell carcinoma of the tonsil. The patient died of pneumonia at the age of 38. Autopsy revealed intestinal polyposis and hemochromatosis secondary to massive blood transfusions.

Adult↗
PubMed2000

[Gardner syndrome--on the basis of three cases].

Based on the 3 cases, the authors describe the Gardner-syndrome which is not so well-known in Hungary. The most important features of the Gardner syndrome are the malignized large intestine polyposis, the multiplex osteomies and the different skin tumours. The earliest symptoms suspecting the clinical picture, are usually dental and/or mandibular lesions. Being aware of the above mentioned facts the dentist noticing the symptoms first is highly responsible.

Adult↗
PubMed2000

Rare syndromes and genetic testing for colorectal cancer.

The genes responsible for each of the inherited syndromes of intestinal polyposis and colorectal cancer are now known. This knowledge has led to genetic testing for syndrome diagnosis and for determining which persons in an affected family actually have the condition. Genetic testing has also allowed a more precise clinical characterization of each of the syndromes and their subtypes. Optimal application of genetic testing, proper cancer prevention, and management of nonmalignant features of each of the syndromes are the next goals. This report summarizes each of the syndromes, their genetics, and management and provides an approach for genetic testing.

Adult↗
PubMed2002

Lack of tumorigenesis in the mouse liver after adenovirus-mediated expression of a dominant stable mutant of beta-catenin.

Mutations in the glycogen synthase kinase 3beta (GSK3beta) phosphorylation sites of the beta-catenin gene exon 3 are found in 20-30% of human primary hepatocellular carcinoma (HCC), whereas mutations in the APC or AXIN genes are found in other HCC populations. These data strongly suggest that the Wnt signaling pathway is involved in hepatocarcinogenesis. To determine the role of beta-catenin in intestinal tumorigenesis, we earlier constructed a mutant mouse strain Catnb(lox(ex3)), in which exon 3 of the beta-catenin gene was sandwiched by loxP sequences. By genetic crosses of these mice with the Fabpl-cre transgenic mice that express the cre gene controlled by the fatty acid binding protein gene promoter, we introduced the beta-catenin stabilizing mutation into the small intestine and liver. Although numerous polyps were formed in the small intestine, we did not find any neoplastic (i.e., dysplastic) foci in the liver, and the mice died in 5 weeks after birth because of acute liver damage accompanying mitochondrial swelling. When a recombinant adenovirus that expresses the cre gene from a human cytomegalovirus early gene promoter was constructed and inoculated at a high multiplicity (10(9) plaque-forming units/mouse), the Catnb(lox(ex3)) mice showed marked hepatomegaly, with similar mitochondrial swelling in the hepatocytes, and died within 3 weeks after infection. On the other hand, when inoculated at lower multiplicities of infection (10(7) and 10(8) plaque-forming units/mouse, respectively), the Catnb(lox(ex3)) mice survived >6 months without any neoplastic foci in the liver, although the nuclear localization of beta-catenin was found in some hepatocytes even after 6 months. These results suggest that, in contrast to intestinal polyposis, the Wnt pathway activation by stabilized beta-catenin is not sufficient for hepatocarcinogenesis, but additional mutations or epigenetic changes may be required.

Adenoviridae↗
PubMedDate not supplied

Cytogenetic investigations in cases of multiple developmental anomalies in children.

The authors studied 59 children including 48 with multiple developmental anomalies and 11 with disturbances of sexual development. In 11 cases (18.6%) the following chromosomal abnormalities were found: in 5 cases of Down's syndrome, 3 cases of full trisomy G, 1 case of 46XX/47XYG+ mosaicism, and in 1 case translocation 46XYD--G--t (DqGq)+. In 3 cases Turner's syndrome was present, with 45XG in 2 cases and 45XO/46XX in the 3rd case. Klinefelter's syndrome was disclosed in 1 case (47XXY), true hermaphroditism with mosaicism 45XO/46XX in one case, and Edwards' syndrome in 1 case with 47XYE+. Multiple chromosome breaks were found in 2 children. In the remaining 46 cases cytogenetic investigations of lymphocyte cultures stained (without using the banding technique) failed to demonstrate any differences in the number and structure of the chromosomes. The following groups were isolated in this material: 8 cases (13.6%) of gene mutation determining systemic defects (homocystinuria, chondrodystrophy, and two cases of intestinal polyposis, adrenogenital syndrome and hereditary osteocartilagineous exostoses each), 6 cases of malformations of hereditary origin (10.2%)-- and 32 cases with negative family history (54.2%). In 12 cases of the last group (37.2%) a history of various teratogenic factors acting during pregnancy was elicited (viral and protozoan infections, drugs and other chemicals, quantitative and qualitative malnutrition, hypoxia, mechanical trauma, vibration).

Abnormalities, Multiple↗
PubMed2002

[Gardner syndrome. Case reports].

The authors discuss 3 cases of Gardner-syndrome, outlining malignized large intestine polyposis, multiplex osteomas and the different skin tumours as the main features. The earliest symptoms suspecting the clinical picture are usually dental and/or mandibular lesions and draw the attention to the highly malignant polyposis.

Adult↗
PubMed1992

Fecal alpha-1-antitrypsin concentration in patients with schistosomal hepatic fibrosis.

Using fecal alpha-1-antitrypsin (FA-1-AT) as an endogenous marker of enteric protein loss, measurements on random non-dried stool samples were carried out in 20 normal healthy subjects and 30 patients with schistosomal hepatic fibrosis (SHF); 12 of them had intestinal polyposis (IP) and better hepatic functions than the others. FA-1-AT concentrations were significantly higher in schistosomal patients with or without IP than in normal subjects. Excluding those with IP, increased enteric protein loss was detected in 11 patients (61.1%) with SHF and there were definite relationship between FA-1-AT concentration and serum albumin level (r = 0.475), prothrombin activity (r = -0.625), Child-Pugh score (r = 0.614) and the presence of ascites. On the other hand, patients with IP had significantly higher FA-1-AT concentration and serum albumin level than other schistosomal patients. This excessive enteric protein loss did not correlate with serum albumin level or severity of liver disease. The cause-and-effect relationship between enteric protein loss and hypoalbuminemia has been discussed in the light of these findings. It can be concluded that protein-losing enteropathy (PLE) in patients with SHF appears to represent a paraphenomenon associated with the progress of liver disease and only becomes of major clinical significance when the hepatic synthetic activity is compromised. Determination of FA-1-AT concentration proved to be an inexpensive, rapid, convenient, nonisotopic screening test that eases diagnosis of PLE.

Adolescent↗
PubMedDate not supplied

Surgical aspects of intussusception secondary to Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is a familial condition characterized by the presence of pigmented mucocutaneous spots and intestinal polyposis. Intussusception is the most frequent abdominal complication, but it is very rare. In our country, this is the second known report. In this article we present four cases of PJS associated with intussusception. All the patients were female and all underwent a surgical procedure. The intussusception was located in the ileum and colon. There are no more than 20 reported cases in the world where these two entities are associated. Children with PJS have a high risk of suffering from ileo-ileal or jejuno-ileal intussusception that will frequently require a special surgical procedure.

Adolescent↗
PubMed2005

Multiple and giant mandibular osteomas in a Gardner's syndrome. Case report.

Though rare, Gardner's syndrome is a systemic disease with frequent jawbones involvement. Dento-maxillo-facial lesions both in early and in advanced stages should be known by dentists and other specialists. In fact, these lesions should be sought in patients with intestinal polyposis, while they could be the first sign of Gardner's syndrome not yet diagnosed.

Adenoma↗
PubMedDate not supplied

[Gardner's syndrome: a case report].

The Gardner syndrome (GS) is a dysplasia in which neoformations in the intestines, soft tissue and osseous tissue are associated. Since extra-intestinal manifestations, in particularly osteomas, appear promptly even in infants, and above all in the light of the possibility of malignant degeneration, the presence of mandibular osteomas indicates the necessity of carrying out investigations in order to ascertain the eventual existence of an intestinal polyposis typical of GS. This study describes a typical case of GS diagnosed merely upon suspicion of the existence of the syndrome in a patient who came to our Department with a mandibular osteoma. The study underlines the importance not only of carrying out investigations in order to ascertain the presence of GS (rectocolonoscopy), but also that of studying the relatives of the patient in light of the fact that this particular dysplasia is transmitted genetically.

Colectomy↗
PubMed2005

Acute brain syndrome as a consequence of the Cronkhite-Canada syndrome.

BACKGROUND: Cronkhite-Canada syndrome is a very rare illness and psychical disturbances developed as a consequence of this illness are very rarely described. That is the case because majority of the symptoms of this syndrome are associated with the polyposis of the gastrointestinal tract. AIM: The aim of this case report is to link the development of acute brain syndrome with this rare syndrome. PATIENT: The patient was two times treated under the diagnosis of Cronkhite-Canada syndrome in the clinics of internal medicine in Rijeka and Zagreb, and then in the Psychiatric Clinic in Rijeka under the diagnosis of acute brain syndrome (F05.0). RESULT: Therapy with a typical antipsychotic (haloperidol) and corresponding internistic treatment gave results very fast and calmed acute delirium. CONCLUSION: Typical antipsychotics are efficient in the treatment of the acute brain syndrome caused by Cronkhite-Canada syndrome. Acute brain syndrome is caused solely by the lack of electrolytes and other important nutrients because of a malabsorption syndrome, conditioned by a diffuse polyposis of intestines.

Acute Disease↗
PubMed1990

[Cowden syndrome].

A patient with multiple hamartoma syndrome or Cowden's disease with multiple gastrointestinal polyps and malignant melanoma is presented. The syndrome is characterized by hamartomatous tumors of the skin, fibrocystic disease of the breasts, gastrointestinal polyps and disease of the thyroid gland such as goiter and adenoma. In addition, other abnormalities and malformations occur in the skeletal system, central nervous system and urogenital tract. Recognition of this syndrome is important because of the association with malignant tumors of the breast and thyroid gland and with malignant melanoma. Gastrointestinal hamartomatous polyps may lead to the diagnosis of Cowden's disease which must be separated from other intestinal polyposis syndromes.

Adenomatous Polyposis Coli↗