Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report.
(33/1471)
A neonate presented with Dandy-Walker syndrome manifesting as a large posterior cranial fossa cyst, aplasia of the lower cerebellar vermis, and elevation of the confluence of the sinuses but without hydrocephalus. A cystoperitoneal shunt was placed at one month after birth. The cyst diminished in size, and marked development of the cerebellar hemispheres and descent of the confluence of sinuses were observed, but not vermis development. The primary pathology of Dandy-Walker syndrome is posterior cranial fossa cyst formation due to passage obstruction in the fourth ventricle exit area and aplasia of the lower cerebellar vermis. The first choice of treatment in patients with Dandy-Walker syndrome in whom the cerebral aqueduct is open is cystoperitoneal shunt surgery, regardless of the presence or absence of hydrocephalus. (+info)
Midline and far lateral approaches to foramen magnum lesions.
(34/1471)
Twenty patients with foramen magnum lesions were operated upon in the last 5 years at Postgraduate Institute of Medical Education and Research, Chandigarh. The common presenting features were quadriparesis, quadriplegia, diminished sensations, neck pain and respiratory insufficiency. The lesions encountered were meningiomas, neurofibromas, posterior inferior cerebellar artery aneurysms, neurenteric cyst and chordoma. Patients with posterior or posterolaterally placed lesions were operated by the midline posterior approach while those with anterior or anterolateral lesions were managed by the far lateral approach. All mass lesions were excised completely and the aneurysms were clipped. Seventeen patients made good neurological recovery while three died. The latter three patients presented very late. The merits of various surgical approaches to the foramen magnum are discussed. (+info)
Endoscopic ultrasonography for differential diagnosis of polypoid gall bladder lesions: analysis in surgical and follow up series.
(35/1471)
BACKGROUND: Differential diagnosis is often difficult for small (+info)
Traumatic pseudocyst of the spleen.
(36/1471)
Four patients with pseudocyst of the spleen gave histories of abdominal trauma. In one patient the pseudocyst had ruptured, necessitating emergency splenectomy 34 years after the original injury. In a second patient the pseudocyst was discovered incidentally, and was managed by spleen-preserving excision; and the third and fourth presented with abdominal pain and had splenectomy and spleen-preserving surgery, respectively. All patients with conservatively treated splenic injury are at risk of developing a pseudocyst of the spleen, and the lesion can be detected by computed tomography or ultrasound. When there are no symptoms the natural history is unknown; but if surgery is necessary, splenectomy can sometimes be avoided. (+info)
A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.
(37/1471)
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for approximately 2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or without cleft palate, isolated cleft palate, bilateral lip pits, hypodontia, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance. Previously, the VWS locus was mapped to a 1.6-cM region in 1q32-q41 between D1S491 and D1S205, and a 4.4-Mb contig of YAC clones of this region was constructed. In the current investigation, gene-based and anonymous STSs were developed from the existing physical map and were then used to construct a contig of sequence-ready bacterial clones across the entire VWS critical region. All STSs and BAC clones were shared with the Sanger Centre, which developed a contig of PAC clones over the same region. A subset of 11 clones from both contigs was selected for high-throughput sequence analysis across the approximately 1.1-Mb region; all but two of these clones have been sequenced completely. Over 900 kb of genomic sequence, including the 350-kb VWS critical region, were analyzed and revealed novel polymorphisms, including an 8-kb deletion/insertion, and revealed 4 known genes, 11 novel genes, 9 putative genes, and 3 psuedogenes. The positional candidates LAMB3, G0S2, HIRF6, and HSD11 were excluded as the VWS gene by mutation analysis. A preliminary gene map for the VWS critical region is as follows: [see text] 41-TEL. The data provided here will help lead to the identification of the VWS gene, and this study provides a model for how laboratories that have a regional interest in the human genome can contribute to the sequencing efforts of the entire human genome. (+info)
Primary seminal vesicle carcinoma: an immunohistochemical analysis of four cases.
(38/1471)
Primary adenocarcinoma of the seminal vesicles is an extremely rare neoplasm. Because prompt diagnosis and treatment are associated with improved long-term survival, accurate recognition of this neoplasm is important, particularly when evaluating limited biopsy material. Immunohistochemistry can be used to rule out neoplasms that commonly invade the seminal vesicles, such as prostatic adenocarcinoma. Previous reports have shown that seminal vesicle adenocarcinoma (SVCA) is negative for prostate-specific antigen (PSA) and prostate-specific acid phosphatase (PAP); however, little else is known of its immunophenotype. Consequently, we evaluated the utility of cancer antigen 125 (CA-125) and cytokeratin (CK) subsets 7 and 20 for distinguishing SVCA from other neoplasms that enter the differential diagnosis. Four cases of SVCA-three cases of bladder adenocarcinoma and a rare case of adenocarcinoma arising in a mullerian duct cyst-were immunostained for CA-125, CK7, and CK20. Three of four cases of SVCA were CA-125 positive and CK7 positive. All four cases were CK20 negative. All bladder adenocarcinomas and the mullerian duct cyst adenocarcinoma were CK7 positive and negative for CA-125 and CK20. In addition, CA-125 immunostaining was performed in neoplasms that commonly invade the seminal vesicles, including prostatic adenocarcinoma (n = 40), bladder transitional cell carcinoma (n = 32), and rectal adenocarcinoma (n = 10), and all were negative for this antigen. In conclusion, the present study has shown that the CK7-positive, CK20-negative, CA-125-positive, PSA/PAP-negative immunophenotype of papillary SVCA is unique and can be used in conjunction with histomorphology to distinguish it from other tumors that enter the differential diagnosis, including prostatic adenocarcinoma (CA-125 negative, PSA/PAP positive), bladder transitional cell carcinoma (CK20 positive, CA-125 negative), rectal adenocarcinoma (CA-125 negative, CK7 negative, CK20 positive), bladder adenocarcinoma (CA-125 negative), and adenocarcinoma arising in a mullerian duct cyst (CA-125 negative). (+info)
Pancreatic mucinous cystic neoplasms with sarcomatous stroma: molecular evidence for monoclonal origin with subsequent divergence of the epithelial and sarcomatous components.
(39/1471)
Neoplasms with mixed carcinomatous and sarcomatous growth patterns occur in many organs and tissues. The pathogenesis of these cancers is thought to be either the result of two independent neoplastic processes merging to form a single tumor, or a neoplasm of monoclonal origin that develops phenotypic diversity. To address this issue, we characterized molecular alterations in separately microdissected epithelial and sarcomatous areas in three cases of pancreatic mucinous cystic neoplasms with sarcomatous stroma. Using microsatellite markers for six chromosomal loci commonly deleted in infiltrating ductal adenocarcinomas of the pancreas, we found genetic alterations to be virtually identical between the sarcomatous and epithelial components of two of the three neoplasms. In the third neoplasm, we found allelic losses and retentions to be identical at five of the six chromosomal loci, but at a single locus, we noted allelic loss in the neoplastic epithelial component but not the sarcomatous component. The same neoplasms were also analyzed for activating point mutations in codon 12 of the K-ras gene by using mutant-enriched polymerase chain reaction and allele-specific oligonucleotide hybridization. A K-ras mutation was identified in the epithelial component of one of the three neoplasms (the same tumor with an additional allelic loss in the neoplastic epithelial cells), but the sarcomatous component of this tumor was wild-type at codon 12 of K-ras, as were both components of the other two neoplasms. Overall, these results suggest a monoclonal origin with subsequent divergence of the neoplastic epithelial and sarcomatous portions of these neoplasms. (+info)
Sonographic appearance of the ventriculus terminalis cyst in the neonatal spinal cord.
(40/1471)
The ventriculus terminalis or "fifth ventricle" is an ependyma-lined residual lumen of the caudal portion of the spinal cord (the conus medullaris). We present the cases of three neonates with asymptomatic cystic dilatation of the ventriculus terminalis as seen on spinal sonography. Over a 4 year period (1996-1999), we prospectively found three cases in which spinal sonograms demonstrated cystic dilatation of the ventriculus terminalis of the conus medullaris in normal term neonates. Sonograms of the lumbosacral spine of two of the infants demonstrated cystic dilatation of the ventriculus terminalis of the conus medullaris. The third infant had cystic dilatation at the distal tip of the conus medullaris at the origin of the filum terminale. No other abnormalities were noted. The three infants have remained asymptomatic during clinical follow-up periods of up to 3 years. Cystic dilatation of the ventriculus terminalis is an unusual but normal anatomic variant of the conus medullaris that can be visualized on spinal sonograms in neonates. (+info)