1/284. Lymphocyte transformation test for the evaluation of adverse effects of antituberculous drugs.The usefulness of the lymphocyte transformation test (LTT) for the analysis of adverse reactions to antituberculous drugs was evaluated. - The LTT was performed with isoniazid and rifampicin in 15 tuberculosis and 2 MOTT (Mycobacteria other than tuberculosis)-infection patients who suffered drug reactions, in 23 patients without any adverse reactions, in 7 controls previously exposed to antituberculous drugs, and in 14 controls who had never been exposed. 4/15 of the hepatotoxic reactions only showed a positive LTT with rifampicin, 3/15 only with isoniazid, and in 8/15 the LTT was negative. In an anaphylactoid shock reaction the LTT was extremely exaggerated for both rifampicin and isoniazid. In patients without any side effects only one slightly increased LTT due to isoniazid was observed. Two healthy controls with previous contact to these drugs showed a positive LTT for isoniazid, one of those with both rifampicin and isoniazid. The LTT was negative in all control persons without any former contact to antituberculous medications. In most cases hepatotoxicity seems to be a pure toxic reaction without the participation of cellular immune mechanisms. LTT can be useful for identifying the drug responsible for immunological side effects.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
2/284. Cystic hamartoma of the renal pelvis: a rare pathologic entity.We report a case of a rare cystic renal tumor previously termed cystic hamartoma of the renal pelvis. A 53-year-old woman presented to her gynecologist with menometorrhagia. She subsequently had a computed tomographic scan that demonstrated an incidental cystic mass in the lower pole of the left kidney. Histologically, the tumor was composed of a mixture of benign mesenchymal and epithelial components. The stroma consisted of spindle cells with monomorphic nuclei and abundant eosinophilic cytoplasm that resembled smooth muscle and that reacted positively with antibodies to alpha-smooth muscle actin, desmin, and vimentin. The epithelial component was composed mostly of cysts lined by cuboidal-to-columnar epithelium. Focal dilated cysts were lined by epithelium with oncocytic features. We think that this entity is distinct from other renal tumors, including mesoblastic nephroma, cystic nephroma, or a cystic, partially differentiated nephroblastoma, and that it is best classified as a cystic hamartoma of the renal pelvis.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
3/284. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
4/284. Fine-needle aspiration findings in idiopathic retroperitoneal fibrosis.Idiopathic retroperitoneal fibrosis (IRF) is an inflammatory and fibrosing process that can be complicated by periureteral encasement, ureteral obstruction, and subsequent renal failure if left untreated. Unfortunately, treatment is often delayed due to the nonspecific nature of the presenting signs and symptoms. Clinical, radiologic, and microscopic findings in IRF, if examined independently, are all nonspecific for its diagnosis. Rendering a diagnosis of IRF by fine-needle aspiration (FNA) requires supportive clinical and radiologic data and systematic evaluation of entities in the differential diagnosis. Herein we report 2 cases of IRF diagnosed by FNA with subsequent histologic confirmation. Smears prepared from the aspirates revealed a combination of inflammatory cells and fibrous tissue. The inflammatory component was comprised of a mixture of lymphocytes, plasma cells, and rare eosinophils and mast cells. These 2 cases represent, to our knowledge, only the second report of IRF diagnosed by FNA.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
5/284. Coincidental acute myeloblastic leukemia in a patient with renal angiosarcoma.A case of acute myeloblastic leukemia diagnosed 7 months after radical nephrectomy for renal angiosarcoma is presented. Chemotherapy or radiotherapy was not performed following nephrectomy and ethiologic factor remains unknown.- - - - - - - - - - ranking = 4keywords = dent (Clic here for more details about this article) |
6/284. Seat-belt transection of the pararenal vena cava in a 5-year-old child: survival with caval ligation.Blunt traumatic disruption of the inferior vena cava is associated with high mortality and is rare in children. A seat-belted 5-year-old girl sustained, in a motor vehicle accident, pararenal caval transection, right renal vein transection, laceration of the right kidney, duodenal injury, and a second lumbar vertebral fracture. Damage-control surgery consisted of inferior vena caval and right renal vein ligation and temporary abdominal wall silo closure. She is alive and well 10 months after the accident, with no sequelae of caval ligation and with normal right renal function.- - - - - - - - - - ranking = 2keywords = dent (Clic here for more details about this article) |
7/284. A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy.BACKGROUND: Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in glomeruli, and an increased concentration of plasma apolipoprotein (apo) E. Previous studies have shown that a genetic disorder of apo E may be associated with the genesis of this disease. methods: An apo E mutation was analyzed in a 57-year-old Japanese male with LPG and systemic atherosclerotic complications. Apo E phenotypes were analyzed by isoelectric focusing and immunoblotting. Apo E genotypes were determined by restriction fragment isotyping with HhaI. polymerase chain reaction (PCR) products of apo E coding region exons 3 and 4 were cloned into pT7Blue-T-vector and were sequenced. RESULTS: A novel apo E mutation was identified in this patient and his family. There was a discrepancy between an apo E phenotype (E1/3) and genotype (E3/3). sequence analysis showed a 54 bp deletion in exon 4 of the apo E gene, causing the 18-amino acid deletion (Gln 156-Gly 173-->0). This deletion mutation was further confirmed by the detection of a short fragment of PCR-amplified dna using polyacrylamide gel electrophoresis. The patient was a heterozygote with apo E1, and this mutation was determined to be the structural basis for the apo E1 phenotype. One of two daughters was a heterozygous carrier of apo E1, although she did not have proteinuria or atherosclerotic diseases. CONCLUSIONS: Apo E1 (Gln 156-Gly 173-->0) is a novel mutation of apo E that may be etiologically related to LPG and to the development of atherosclerosis. The result of this family study suggests that the occurrence of LPG may involve other genetic or environmental factors.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
8/284. association of a novel 3-amino acid deletion mutation of apolipoprotein E (Apo E tokyo) with lipoprotein glomerulopathy.Lipoprotein glomerulopathy (LPG) is a newly recognized renal disease characterized by abnormal lipoprotein deposition in the glomeruli, dysbetalipoproteinemia, and a high level of plasma apolipoprotein (apo) E. We identified a novel apo E mutation in a 56-year-old Japanese male with LPG. Although the plasma cholesterol and triglyceride levels were normal, the levels of intermediate-density lipoprotein cholesterol and apo E were elevated to 13 mg/dl (0.336 mmol/l; 4.2 /-2.9 mg/dl, mean /- SD, in 12 normolipidemic controls) and 9.2 mg/dl, respectively. Biochemical analysis revealed an unusual apo E phenotype (E1/3). Apo E genotyping using dna digested by a restriction enzyme (HhaI) identified a 66-bp fragment which was not seen with any of the common alleles. sequence analysis of the amplified genomic dna fragments showed a 9-bp deletion in exon 4 of the apo E gene resulting in a 3-amino acid deletion (residues 141-143). This novel mutation involves the region of the apo E molecule known to be critically involved in binding to its receptor, and this may well transform the apo E molecule, an inefficient ligand, to its receptor(s). How this mutations causes glomerular damage remains to be determined.- - - - - - - - - - ranking = 2keywords = dent (Clic here for more details about this article) |
9/284. Hereditary renal amyloidosis associated with variant lysozyme in a large English family.BACKGROUND: Two kindreds with hereditary systemic amyloidosis caused by the first two mutations to be described in the human lysozyme gene were discovered recently and study of the variant lysozyme has been powerfully informative about mechanisms of amyloid fibrillogenesis. However, the clinical manifestations in these families, additional members of which have lately been identified, have not previously been reported in detail. methods: The proband presented with proteinuria aged 50 and a family history of amyloidosis, and underwent renal biopsy, whole-body serum amyloid P component (SAP) scintigraphy, and sequencing of the lysozyme gene. Her family history and the phenotype of hereditary lysozyme amyloidosis were thoroughly documented and compared with the presentation and natural history of all other known patients with this condition. RESULTS: The proband belonged to an extended English family other members of which were known to have hereditary lysozyme amyloidosis. Those with amyloid in previous generations presented with renal involvement, frequently developed complications due to gastrointestinal amyloid, and died before age 60. All amyloid deposits were composed of lysozyme and complete concordance was established between amyloid and heterozygosity for a point mutation in the lysozyme gene, encoding the previously reported Asp67His substitution in the mature protein. CONCLUSION: The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis. A remarkably wide spectrum of disease can be caused by the same amyloid fibril protein, although renal involvement predominates in all cases except those dying of hepatic rupture.- - - - - - - - - - ranking = 1keywords = dent (Clic here for more details about this article) |
10/284. Somatic mutations of the L12a gene in V-kappa(1) light chain deposition disease: potential effects on aberrant protein conformation and deposition.light chain deposition disease (LCDD) and light chain amyloidosis (AL) are disorders of monoclonal immunoglobulin deposition in which normally soluble serum precursors form insoluble deposits in tissues. A common feature in both is the clonal proliferation of B-cells that produce pathogenic light chains. However, the deposits in LCDD differ from those in AL in that they are ultrastructurally granular rather than fibrillar and do not bind congo red or colocalize with amyloid P component or apolipoprotein E. The reason(s) for their differences are unknown but are likely multifactorial and related to their protein conformation and their interaction with other molecules and tissue factors in the microenvironment. knowledge of the primary structure of the light chains in LCDD is very limited. In the present study two new kappa(1) light chains from patients with LCDD are described and compared to seven other reported kappa-LCDD proteins. The N-terminal amino acid sequences of light chain GLA extracted from the renal biopsy and light chain CHO from myocardial tissue were each identical to the respective light chains isolated from the urines and to the V-region amino acid sequences translated from the cloned cDNAs obtained from bone marrow cells. The germline V-region sequences, determined from the genomic dna in both and in MCM, a previously reported kappa(1) LCDD light chain, were identical and related to the L12a germline gene. The expressed light chains in all three exhibit amino acid substitutions that arise from somatic mutation and result in increased hydrophobicity with the potential for protein destabilization and disordered conformation.- - - - - - - - - - ranking = 2keywords = dent (Clic here for more details about this article) |
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