Congenital cystic disease of the liver and kidney in a pygmy goat. (57/1471)

A 1-month-old pygmy goat was presented with abdominal distension and hematuria. Anemia, leukocytosis, and increased bilirubin and blood urea nitrogen levels suggested renal and hepatic disease. Radiographs revealed bilateral renomegaly, and ultrasound confirmed bilateral hydronephrosis. Necropsy findings determined that the renomegaly was due in part to edema and marked cystic tubular distension. Similarly, intrahepatic bile ducts were ectatic. The character and distribution of the gross and histologic lesions were consistent with a polycystic disorder, presumably congenital, affecting the liver and the kidney.  (+info)

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients. (58/1471)

Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest genetic diseases in man, affecting 1:1000 individuals in the Caucasian population. It is caused by mutations in the PKD1 or PKD2 genes. Recently, controversial data regarding the mutational mechanism underlying cyst initiation have been reported: genetic analyses have shown that second somatic mutations may lead to cyst formation (detected as microsatellite loss of heterozygosity, LOH, and point mutations), but immunohistochemical studies show strong immunoreactivity for polycystin in some cysts. In order to further characterise this matter we have analysed 211 cysts from seven different patients for LOH, we have detected a 13.3% LOH for PKD1. This loss was specific to PKD1 as no LOH was detected when other chromosomal regions were studied. Whenever linkage analysis has been possible, it has been proved that the lost allele corresponded to the wild-type. Our data supports previous results in the two-hit theory for ADPKD due to the large number of cysts studied. ADPKD would occur through a recessive cellular mechanism. The probability of cyst development would depend on the probability of mutation in the second allele. The different phenotypical expression of the same mutation reported in ADPKD could be due to the different tendency of inactivation in the second allele in each individual.  (+info)

Superficially-located oligodendroglioma associated with intratumoral and peritumoral cysts--case report. (59/1471)

A 72-year-old male presented with a superficially-located oligodendroglioma associated with intratumoral and peritumoral cysts. Neuroimaging showed the outer cyst wall as enhanced but not the inner cyst wall. The outer cyst was removed and a biopsy taken of the solid component. The inner cyst wall appeared to consist of non-neoplastic tissue. Histological examination showed the tumor was an oligodendroglioma with tumor cells in the outer wall. The outer cyst was probably the result of blood-brain barrier disruption and intratumoral hemorrhage. The inner cyst probably resulted from reactive gliosis or peritumoral edema. Cyst formation in intraaxial tumors occurs through similar mechanisms to those of extraaxial tumors.  (+info)

Three-dimensional ultrasonographic imaging of the neonatal brain in high-risk neonates: preliminary study. (60/1471)

The aim of this investigation was to compare the utility of three-dimensional ultrasonography versus two-dimensional ultrasonography in imaging the neonatal brain. Thirty patients in the neonatal intensive care unit underwent two-dimensional and three-dimensional ultrasonography. The resultant two- and three-dimensional images recorded on film and three-dimensional volumes (reviewed on a workstation) were evaluated independently. Comparable numbers of normal and abnormal studies were diagnosed by each modality. Axial images were considered useful in approximately 50% of three-dimensional cases. Image quality, overall and in the far-field, was rated higher on two-dimensional images. Three-dimensional sonographic acquisition time in the neonatal intensive care unit (1.7 min+/-0.7 standard deviation) was significantly shorter than that for two-dimensional sonography (9.0+/-4.5 min). The total time for evaluation on the three-dimensional workstation (4.4+/-1.1 min) was significantly less than that for two-dimensional images on film (10.6+/-4.7 min). In conclusion, three-dimensional ultrasonography is a promising, diagnostically accurate, and efficient imaging tool for evaluation of the neonatal brain; however, visualization must improve before it can replace two-dimensional ultrasonography.  (+info)

Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18. (61/1471)

Between 1990 and 1999, 30 second trimester fetuses with trisomy 18 and 2000 control fetuses underwent real-time and color Doppler ultrasonographic examination followed by genetic amniocentesis. Abnormal fetal anatomy was present in 97% of fetuses with trisomy 18, with a false-positive rate of 15.7%. Logistic regression identified six markers (choroid plexus cysts, central nervous system malformations, an abnormal nuchal skin fold, ventricular septal defect, outflow tract abnormalities of the heart, and right-to-left chamber disproportion of the heart) and one interaction between markers (right-to-left chamber disproportion and outflow tract abnormalities) to significantly contribute to the identification of 93% of fetuses with trisomy 18, with a false-positive rate of 8.9%. Noncardiovascular markers (choroid plexus cysts, central nervous system malformations, and abnormal nuchal skin fold) identified 77% of fetuses with trisomy 18, with a false-positive rate of 3.9%. Combining right-to-left chamber disproportion of the heart with choroid plexus cysts, central nervous system malformations, and nuchal skin folds identified 83% of fetuses with trisomy 18, with a false-positive rate of 4.4%.  (+info)

Needlescopic decapsulation of a splenic epithelial cyst. (62/1471)

As technology advances, the techniques of laparoscopic surgery are being refined and their application is expanding to include many disease processes and organs. The new-generation laparoscopic instruments are becoming smaller (less than 5 mm). Expected advantages include improvements in cosmesis and patient satisfaction, and decreased postoperative analgesic requirements. Non-neoplastic cysts of the spleen are rare, and their management has evolved from total open splenectomy to laparoscopic cyst decapsulation. A 22-year-old woman with a symptomatic 10-cm epithelial cyst was treated by splenic decapsulation with needlescopic instruments (3 mm or smaller). Three trocars were used: one 12-mm umbilical and two 3-mm subcostal ports. The cyst was punctured by a Veress needle, and after drainage of straw-coloured fluid, circumferential decapsulation with 5-mm laparoscopic shears through the umbilical port site was done. The patient was discharged within 24 hours, having had a single intramuscular injection of meperidine and an excellent cosmetic result.  (+info)

Choledochal cysts. A review of the cystic anomalies of the biliary tree. (63/1471)

Congenital cysts of the biliary tree, although uncommon, are being reported in increasing numbers. The widely accepted classification would seem to warrant modification in the light of recent observations. The clinical spectrum of the condition is reviewed, together with the surgical approach to treatment and its indications and complications.  (+info)

Managing the solitary thyroid nodule. (64/1471)

Solitary thyroid nodules are commonly seen in surgical outpatient clinics. A detailed history and a careful physical examination are essential. In the management of the solitary thyroid nodule, fine needle aspiration cytology has become the cornerstone investigation. Ultrasound cannot differentiate between benign and malignant nodules, however is useful in the follow-up period to identify any further nodular growth. As thyroid malignancy occurs in both hot and cold nodules, radionuclide scans are not useful in the management of solitary thyroid nodules. We have attempted to outline the process of managing the solitary thyroid nodule and discuss the options available.  (+info)