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A Pierides

Publications and source records attributed to A Pierides.

26 records · Page 2Linked to original sources
PubMed1996

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.

Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of all cases, and the PKD2 gene on chromosome 4 accounts for the remainder. A very rare third locus is still of unknown location. We used PKD1- and PKD2-linked polymorphic markers to make the diagnosis of ADPKD in young presymptomatic members in affected families. We showed that in young members of families where clinical diagnosis cannot be definitively established, molecular linkage analysis can assist clinicians in the diagnosis. In one family a 24-year old had one cyst on the right kidney; however, molecular analysis showed clearly that he had inherited the normal haplotype. In another family, in one part of the pedigree there was co-inheritance of the disease with a PKD1-linked haplotype which originated in a non-affected 78-year-old father. Analysis with PKD2-linked markers excluded this locus. The data can be explained in one of two ways. Either this family phenotype is linked to a third locus, or the proband was the first affected person, most probably because of a novel mutation in one of her father's chromosomes. In conclusion, the combined use of markers around the PKD1 and the PKD2 locus provides more definitive answers in cases where presymptomatic diagnosis is requested by concerned families.

Adult↗
PubMed1996

Value of ultrasonography, CT and MR imaging in the diagnosis of primary hyperparathyroidism.

PURPOSE: To evaluate the significance of preoperative localization of abnormal parathyroid glands to the surgical outcome in patients with primary hyperparathyroidism. MATERIAL AND METHODS: Thirty-nine patients with primary hyperparathyroidism were studied preoperatively with US (39 patients), CT (30 patients) and MR imaging (18 patients). The overall diagnostic accuracy for US was 87%, CT 66% and MR 94%. In patients with a single parathyroid adenoma US was the most cost-effective localization technique with a detection rate of 96%. CT had a lower detection rate (78%) but was of particular value for fairly large ectopic adenomas in the root of the neck. MR imaging was a good confirmatory test (93%). In patients with multiple gland disease (primary hyperplasia and multiple adenomas), no single localization study alone was sufficient. Combination of all 3 studies, however, alerted the physician to the presence of disease in more than one gland in 87% of these patients. CONCLUSION: US, CT and MR imaging followed by surgery performed by an experienced surgeon provided good clinical results in 39 patients with primary hyperparathyroidism. Preoperative localization was especially useful in patients with primary parathyroid hyperplasia or multiple adenomas and in patients with ectopic parathyroid adenomas in the root of the neck. We recommend identification of all abnormal parathyroid glands prior to surgery.

Adenoma↗
PubMed1995

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with late age of onset. Three loci have been identified, PKD1 on the short arm of chromosome 16, which has recently been isolated and characterized, PKD2 on the long arm of chromosome 4, and a third locus of unknown location, that is apparently much rarer. In families that transmit the PKD2 gene there is a significantly later age of onset of symptoms, compared with families that transmit the PKD1 gene, and in general they present with milder progression of symptomatology. For the first time we attempted molecular genetic analysis in seven Cypriot families using highly polymorphic markers around the PKD1 and PKD2 genes. Our data showed that there is genetic and phenotypic heterogeneity among these families. For four of the families we obtained strong evidence for linkage to the PKD1 locus. In two of these families linkage to PKD1 was strengthened by excluding linkage to PKD2 with the use of marker D4S423. In three other families we showed linkage to the PKD2 locus. In the largest of these families one recombinant placed marker D4S1534 distal to D4S231, thereby rendering it the closest proximal marker known to us to date. The application of molecular methods allowed us to make presymptomatic diagnosis for a number of at-risk individuals.

Aged↗
PubMedDate not supplied

Thin glomerular basement membranes in patients with hematuria and minimal change disease.

A detailed morphometric analysis of glomerular basement membrane (GBM) thickness was carried out on biopsies from 16 patients exhibiting normal histology and unremarkable immunofluorescence. Eleven of these patients presented with proteinuria, 8 in the nephrotic syndrome range, while 5 had hematuria as well. The remaining 5 patients presented with hematuria only. Eight patients had an initial diagnosis of minimal change disease, 4 were diagnosed as thin-membrane nephropathy, 2 had Alport syndrome, and the remaining 2 had hypertensive nephropathy. Quantitative morphometric analysis of GBM identified 3 subsets of patients. The first subset consisted of 6 patients: 5 adults, with an average GBM width of 361 +/- 34 nm, and 1 child. The second subset included 8 patients with thin GBMs and a mean thickness of 253 +/- 15 nm. The last subset comprised 2 patients with Alport syndrome showing marked variability in GBM thickness. This study has confirmed the presence of thin GBMs in hematurics, but has also revealed GBM thinning in 50% of patients with a diagnosis of minimal change disease.

Adolescent↗
PubMedDate not supplied

A simplified method for measuring the thickness of glomerular basement membranes.

Measurement of the thickness of glomerular basement membranes is required for the diagnosis of thin membrane nephropathy. Over the years various morphometric methods have been used but some are laborious so there is a need for establishing a simplified method for measuring thickness. In the present study 20 renal biopsies were used to carry out a comparative morphometric analysis between 2 methods. The first method was based on measuring thickness at the maximum number of available points, whereas for the second method, thickness was measured at only 5 points per loop. Since both methods gave mean values that are not statistically different in each patient, the authors recommend that the simplified method be used routinely for diagnosis.

Adolescent↗