Biomedical subjects

G Poptodorov

Publications and source records attributed to G Poptodorov.

5 recordsLinked to original sources

PubMed2003

[Neurofibromatosis type 2--initial symptoms and diagnostic problems].

The presenting symptoms in a group of 16 NF2 patients treated in neurosurgical tertiary referral centers are reviewed. Eight of the cases are distinct severe forms (Wishart type) and one demonstrated a mild disease course (Gardner type). Fourteen cases represent new mutations. The mean age of onset was 17.88 years. Twenty-five percent of the cases initially fulfill the established diagnostic criteria. More than a half of the patients presented initial symptoms related to tumors other than vestibular schwannomas. The mean interval between the age of onset and the age at diagnosis was 7.19 years. The reasons of the delay are discussed.

Diagnosis, Differential↗

PubMed2001

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CGH methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

Adolescent↗

PubMed2001

[Neurofibromatoses. Types, classification and diagnostic criteria].

According to the worldwide-accepted classification of the neurofibromatoses only neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are well defined. Other described forms of neurofibromatosis are rare. The aim of this paper is to review the contemporary classification and diagnostic criteria of the different types of neurofibromatoses.

Humans↗

PubMed2001

[Multiple meningiomas. Part I. Types. Classification. Differential Diagnosis].

Meningiomas usually are solitary tumors but they can be multiple in various conditions. True multiple meningiomas in the sense of Cushing are rare. The development of more than one meningioma in the same individual may be due to central neurofibromatosis or following external cranial irradiation. Multiple meningiomas can occur after dissemination of the tumor cells following surgery. The purpose of this review is to define and discuss the different types and the criteria of differential diagnosis for MM.

Diagnosis, Differential↗

PubMed1999

[Lipoma of the temporal lobe].

This is a case report on a 16-year-old girl presenting lipoma located in the temporal cerebral lobe, in conjunction with an ever increasing frequency of epileptic seizures, unresponsive to the anticonvulsive treatment carried out. A comprehensive analysis is done of the data concerning clinical course, diagnostic examinations' specificity and microsurgical removal of the lipoma with ensuing optimal postoperative results--total abatement of epileptic seizures against the background of reduced anticonvulsive therapy throughout the 3.5 years observation period. The literature survey shows that intracranial lipomas with the location described represent as casuistic rarity.

Adolescent↗