[Adult intramedullary gliomas].

Objectives: Intramedullary gliomas are rare tumors accounting for less than 4% of all primary central nervous system tumors. The aims of this retrospective multicenter study were to assess their natural outcome as well as management.

Methods And Materials: We studied 332 patients from 1984 to 2011.

High level of HPV 16 and 18 DNA load in anal swabs from male and female HIV-1 infected patients.

Background: Despite HAART, the prevalence and incidence of anal cancer in HIV-infected individuals have increased. Recently, the relationship between the severity of cervical lesions and oncogenic HPV load was demonstrated; however, few studies have assessed the level and the significance of oncogenic HPV load in patients at risk for anal neoplasia.

Objectives: To assess HPV genotypes and HPV 16/18 DNA load in HIV-1 infected patients at risk for anal neoplasia.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.

Fluorescence in situ hybridization determination of 22q12-q13 deletion in two intracerebral ependymomas.

The sole cytogenetic abnormalities encountered in two childhood anaplastic intracerebral ependymomas were an isodicentric chromosome 22 in one case and an unbalanced chromosome 22 translocation associated with a partial deletion in the other. Fluorescence in situ hybridization analysis showed that the common 22q arm loss did not involve the rhabdoid region but included the EWS and NF2 loci. These results, in conjunction with data in the literature, suggest that the most frequently recurrent genomic loss in ependymomas does not involve the proximal 22q11.

Contribution of cytogenetics and FISH in the diagnosis of meningiomas. A study of 189 tumors.

The correlation between cytogenetic and histopathological findings were analysed in 189 meningiomas. The tumors were classified according to increasing degrees of anaplasia. We observed normal karyotype or only monosomy 22 in grade 1 (benign) tumors, while in grade 3 (anaplastic) only 1.

Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrophy.

We studied mitochondrial respiratory chain function in skeletal muscle taken from 27 patients with idiopathic Parkinson's disease (PD; 21 Dopa-treated PD patients and 6 de novo patients), 5 patients with multiple system atrophy (MSA) and from 43 age-matched controls in order to determine the occurrence of mitochondrial respiratory chain abnormalities in parkinsonian syndromes. In our control subjects, we found a significant age-related decrease in the activity of respiratory chain complex I. As compared to carefully age-matched control subjects, activity of complex (NADH:ubiquinone reductase) was significantly lower in muscle mitochondria from patients with PD and MSA and a mean remaining activity < 30% of controls was observed.

Telomeric association of chromosomes in human meningiomas.

In six cases of meningiomas, a karyotype with monosomy 22 and telomeric associations has been observed. The histopathological and cytogenetic correlations showed that the tumors with these chromosomal abnormalities were of a fibroblastic type and presented a certain degree of anaplasia. The relationship between telomeric association and malignancy is discussed.

Myopathy associated with desmin type intermediate filaments. An immunoelectron microscopic study.

The muscle biopsy performed in a 58-year-old woman with a myopathy involving pelvic girdle and lower limbs displayed unusual intermediate filament aggregates by light and electron microscopy. No cardiac involvement was detected. The filamentous aggregates selective for type 1 fibers were found in subsarcolemmal and intermyofibrillar areas closely related to Z bands.