A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.

We report a case of a woman with a cryptic balanced translocation between chromosomes 5 and 17, suspected during genetic counseling. The woman had a history of previous fetal losses attributed to lissencephaly and intra uterine growth retardation (IUGR) and a daughter with dysmorphic features and mental retardation, previously attributed to a small deletion 5pter, detected years ago by a first generation CGH-array. This peculiar combination of personal and family history suggested the opportunity to carry out a FISH approach, focusing on chromosomes 5 and 17, based on the idea that a malsegregation secondary to a balanced translocation, might have escaped the first CGH array. This approach allowed the identification of a balanced translocation in the mother, FISH in the affected child confirmed the partial 5p deletion predicted by the previous CGH array and identified a new 17p duplication that had not been detected before. The described translocation opens the possibility of alternative imbalances that were probably responsible for previous fetal losses. The imbalances were confirmed by a new high resolution SNP array. We conclude that despite the availability of highly effective and sensitive genomic approaches a careful evaluation of medical history is highly recommended since it can suggest clinical hypothesis that can be confirmed by more classical and molecular cytogenetic based approaches.

Bilateral acute suppurative parotitis due to Staphylococcus aureus: an hospital acquired case with fatal outcome.

During recent decades, acute bacterial parotitis has progressively changed its etiological and clinical spectrum. New risk factors and causative agents are emerging, while the associated rates of complications and mortality may remain still significant. A rare case of concurrent bilateral suppurative parotitis caused by Staphylococcus aureus has been observed in a patient hospitalized for prior abdominal surgery and multiple underlying illnesses. The disease had a complicated and ultimately fatal outcome, despite a timely diagnosis being made and a specific treatment started. A literature review dealing with risk factors, microbiology, clinical picture, complications, differential diagnosis, treatment and outcome of suppurative parotitis is presented.

Ultrasound follow-up of patients at risk for hepatocellular carcinoma: results of a prospective study on 360 cases.

OBJECTIVES: We performed a prospective study with ultrasound (US) follow-up on a population at risk for hepatocellular carcinoma (HCC) to evaluate the possibilities of diagnosis of HCC at an early stage. METHODS: We studied 360 patients; 254 of those patients had cirrhosis of the liver (of which 167 had HCV, 28 had HBV, 53 were alcoholic, and six had autoimmune disease), and the remaining 106 patients had chronic hepatitis. US scan was performed and alpha-fetoprotein was measured every 6 months. Mean duration of follow-up was 56 months (range 18-72). We compared the results of HCC detection with those of 2170 patients with cirrhosis or chronic hepatitis observed with US in the same period, outside the follow-up protocol. RESULTS: In 24 of the follow-up patients, hepatic lesions were detected with US and proved to be HCC with fine needle biopsy, with a cumulative incidence of 6.6% and an annual incidence of 1.4%. The HCC was unifocal in 18 patients, always with diameter < or = 3 cm (small HCC). All but one of the 24 patients who developed HCC had liver cirrhosis, and the remaining patient had HBV-correlated chronic hepatitis. In the group of 2170 patients without serial follow-up, the percentage of detected unifocal tumors with diameters < or = 3 cm was only 15.5%, compared with 75% in the patients with serial follow-up. CONCLUSIONS: The US follow-up of a population at risk for HCC, consisting of patients with chronic liver diseases, made it possible to diagnose tumor < or = 3 cm in a high percentage of cases, with a statistically highly significant difference (chi 2, p = 0.000) compared with the patients not in the follow-up. Follow-up could increase the percentage of HCCs detected at a potentially curable stage. Cirrhosis is confirmed as being the main risk cause, regardless of etiology.

Endoscopic ultrasonography in the diagnosis of gastrointestinal amyloid deposits: clinical case report.

A case of systemic amyloidosis of the digestive tract is described here, with particular attention to the endoscopic ultrasonography aspects, characterized by a wide-spread thickening of the stomach and rectum walls, with loss of the normal layer structure of the mucosa and submucosa. Endoscopic ultrasonography, especially in pseudotumoral forms, may contribute to the differential diagnosis from neoplastic lesions, in which the wall thickening appears to be localized and accompanied by parietal infiltration.

Comparison between echo-guided fine-needle aspiration cytology and microhistology in diagnosing pancreatic masses.

Echo-guided fine-needle aspiration biopsy of pancreatic masses is a well-established diagnostic procedure. However, there is no consensus as to the superiority of cytology or microhistology. We compared the results of cytology and microhistology in 50 consecutive patients who underwent fine-needle aspiration biopsy for pancreatic masses. Aspirates were positive for malignant disease in 42 patients; the other eight had chronic focal pancreatitis. In the 42 cases of cancer, cytology provided conclusive results in 40 (95.2%); sampling was inadequate in two. Microhistology proved accurate in 30 cases (71.4%); insufficient tissue was obtained in 12, giving a statistically significant difference in favor of cytology (P < 0.01). In the eight patients with benign disease both techniques ruled out malignancy; in five microhistology gave further indications confirming suspected chronic pancreatitis (fibrosis, lymphocyte and histiocyte-cell infiltrate). Our results show that cytology is the method of choice in diagnosing pancreatic carcinoma. Microhistology can be a useful adjunct in patients with suspected chronic pancreatitis.

[Tracheostomy: indications, techniques, and complications]. / La tracheostomia: indicazioni, tecnica e complicanze.

The authors report their experience relative to 46 tracheostomies performed over a 10-year period. In 6 cases the indication for a tracheostomy was a post-traumatic respiratory failure; in 20 cases a chronic respiratory insufficiency, in 6 cases a malignant neoplasm of the larynx; in 10 cases a postoperative respiratory insufficiency; in 4 cases for tongue and/or neck wounds. The authors stress the importance of a correct indication, the use of large volume-low pressure cuffs and an appropriate surgical technique to prevent complication of tracheostomy.

[Hydatid choleperitoneum: a rare complication of hepatic hydatid disease]. / Idatidocoleperitoneo: rara complicanza della idatidosi epatica.

The authors report their experience relative to hydatid choleperitoneum which is a rare complication of hydatid hepatic disease (one case of 236 operated). They underline how such pathology constitutes a clinic and anatomopathological case, well characterized and different from those offered by other complications of this hepatic disease. They draw attention moreover on how preoperative diagnosis is often difficult and consequently how the surgical therapeutic technique requires a very careful examination of anatomic relations of the lesion and recognize, as a chiefly foundation, a radical treatment of hepatic disease and whenever possible, the removal of the pseudomembrane of encystment.

Gallbladder motility in cholesterol gallstone disease. Effect of ursodeoxycholic acid administration and gallstone dissolution.

Gallbladder motility was evaluated by ultrasonography in 75 cholesterol gallstone patients and in 77 matched control subjects. All 75 gallstone patients were candidates for oral bile acid therapy (radiolucent gallstones, less than 2 cm in diameter, in well-opacified gallbladder), and 38 of them were also studied during ursodeoxycholic acid administration. An additional 20 gallstone patients were studied 1 year after confirmed gallstone dissolution with oral bile acids. Gallstone patients showed significantly greater fasting and residual volumes, a decreased percent of gallbladder emptying, but a similar absolute emptying and emptying rate compared with the control subjects. Greater fasting volumes and reduced percents of gallbladder emptying were also found in gallstone-free patients who achieved complete dissolution with oral bile acids. After ursodeoxycholic acid administration, fasting gallbladder volumes were greater, and percents of gallbladder emptying were further decreased than in untreated gallstone patients. In conclusion, greater fasting volumes, and not reduced gallbladder contractility, account for the defective gallbladder function in radiolucent (cholesterol-rich) gallstone patients. This condition is likely to precede, and possibly to promote, gallstone formation because it persists after gallstone dissolution. Ursodeoxycholic acid administration worsens the defect observed in gallstone patients. This finding also suggests, although indirectly, that the expected normalization of cholesterol saturation during oral bile acid administration is not paralleled by an improvement in gallbladder function.

[Immune response in rabbits to tumoral tissue extracts of human colon]. / Respuesta inmune en conejos a extractos de tejido tumoral de colon humano.

Carcinoembryonic antigen (CEA) was purified after perchloric acid extraction of glycoprotein from human normal and tumoral colon. Antibodies against those extracts as well as purified CEA were raised in rabbits. Sera obtained from animals immunized with tumoral extract in protracted schemes showed disperse behavior on polyacrylamide gel electrophoresis (PAGE) for proteins in the area with gamma, mobility which were markedly increased. In addition, a large increase of proteins with a mobility comparable to alpha 2 proteins was observed. The latter increase was not present in sera of rabbits immunized with normal colon extracts. Low titer antisera were obtained after immunization with either antigen as revealed by immunodiffusion. The relatively highest titers were seen against the glycoprotein fraction of tumor extracts which had previously been enriched by isoelectric focusing. Immunoelectrophoresis of tumor extracts against homologous antisera revealed bands with beta mobility due to the presence of CEA antibodies only in the sera of animals injected with tumor extracts. Antibody titers assayed by radioimmunoassay (RIA) revealed that the highest titers were obtained from tumor glycoprotein extracts was used as an immunogen. Measurements of CEA concentrations in serum of patients with low and high levels of CEA showed non significant differences by statistical analysis, when antisera obtained from different bleedings of the same animals were used. It is concluded that in order to establish a CEA RIA for clinical purposes it is necessary to purify up to the isoelectric focusing step the material to be labelled as tracer or used as standard. Antibody reagent may be obtained by immunizing schemes or protracted schemes using crude perchloric acid extracts of colon tumor.

Respuesta inmune en conejos a extractos de tejido tumoral de colon humano. / [Immune response in rabbits to tumoral tissue extracts of human colon]

Carcinoembryonic antigen (CEA) was purified after perchloric acid extraction of glycoprotein from human normal and tumoral colon. Antibodies against those extracts as well as purified CEA were raised in rabbits. Sera obtained from animals immunized with tumoral extract in protracted schemes showed disperse behavior on polyacrylamide gel electrophoresis (PAGE) for proteins in the area with gamma, mobility which were markedly increased. In addition, a large increase of proteins with a mobility comparable to alpha 2 proteins was observed. The latter increase was not present in sera of rabbits immunized with normal colon extracts. Low titer antisera were obtained after immunization with either antigen as revealed by immunodiffusion. The relatively highest titers were seen against the glycoprotein fraction of tumor extracts which had previously been enriched by isoelectric focusing. Immunoelectrophoresis of tumor extracts against homologous antisera revealed bands with beta mobility due to the presence of CEA antibodies only in the sera of animals injected with tumor extracts. Antibody titers assayed by radioimmunoassay (RIA) revealed that the highest titers were obtained from tumor glycoprotein extracts was used as an immunogen. Measurements of CEA concentrations in serum of patients with low and high levels of CEA showed non significant differences by statistical analysis, when antisera obtained from different bleedings of the same animals were used. It is concluded that in order to establish a CEA RIA for clinical purposes it is necessary to purify up to the isoelectric focusing step the material to be labelled as tracer or used as standard. Antibody reagent may be obtained by immunizing schemes or protracted schemes using crude perchloric acid extracts of colon tumor.