ABSTRACT
PURPOSE: Temporal lobe epilepsy (TLE) is the most common variety of focal epilepsy among adults. The neuroinflammatory mechanisms of epilepsies may be involved in the genesis of seizures and refractory epilepsies, particularly in the case of progressive syndromes such as TLE associated with mesial hippocampal sclerosis (TLE-HS). The goal of the present study is investigate the genetic profile of susceptibility of individuals with TLE-HS by analyzing the possible association of TLE-HS with human leukocyte antigen (HLA) DRB1, DQA1 and DQB1 alleles. METHODS: Peripheral blood samples were collected from 42 individuals with pharmacoresistant TLE-HS and 89 healthy controls. The typing of the HLA class II alleles from DRB1, DQB1, and DQA1 loci were analyzed using sequence-specific primer-polymerase chain reaction (SSP-PCR) and identified through sequencing. Statistical analysis of relative allele frequencies was performed using an Excel spreadsheet; p-value, relative risk (RR), and odds ratio (OR) were calculated using the software Epi Info 6.0. p-values <0.05 following Bonferroni's method correction were considered statistically significant. RESULTS: HLA-DRB1*13:02 was the only allele with a statistically significant difference (p=0.01) in frequency between patients and controls. However, the significance was lost following Bonferroni's method correction (p=0.44). The remainder of the alleles in the HLA-DRB1, HLA-DQB1 and HLA-DQA1 regions did not exhibit any significant association. CONCLUSION: The allele HLA DRB1*13:02 has exhibited a tendency to behave as a susceptibility factor for TLE-HS.
Subject(s)
Drug Resistant Epilepsy/genetics , Epilepsy, Temporal Lobe/genetics , Genetic Predisposition to Disease , HLA-DQ alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Adolescent , Adult , Aged , Drug Resistant Epilepsy/pathology , Drug Resistant Epilepsy/physiopathology , Epilepsy, Temporal Lobe/pathology , Epilepsy, Temporal Lobe/physiopathology , Female , Gene Frequency , Genetic Association Studies , Hippocampus/pathology , Humans , Male , Middle Aged , Sclerosis , Young AdultSubject(s)
Parkinson Disease/complications , Peripheral Nervous System Diseases/etiology , Aged , Aged, 80 and over , Antiparkinson Agents/adverse effects , Case-Control Studies , Female , Humans , Levodopa/adverse effects , Male , Parkinson Disease/drug therapy , Peripheral Nervous System Diseases/drug therapy , Retrospective Studies , Vitamin B Complex/administration & dosageABSTRACT
OBJECTIVE: To evaluate the presence of structural disorders of the corpora cavernosa in patients with erectile dysfunction (ED), as despite new drugs being effective in many men with ED, some aspects of structural disorders of the corpora cavernosa remain unknown. MATERIALS AND METHODS: Biopsy specimens were taken from the corpora cavernosa of seven patients (mean age 57.8 years, range 51-72) with severe ED who had a penile prosthesis implanted. The controls tissues were fragments of corpora cavernosa obtained from autopsies of six men (mean age 52.3 years, range 40-66) who died from causes unrelated to the urogenital system. For light microscopy, the specimens were processed routinely to paraffin wax, and by immunohistochemistry to evaluate elastic fibres, and by Masson's trichrome to analyse collagen and smooth muscle fibres. Stereological methods were used to quantitatively evaluate the different elements (as a percentage). RESULTS: The percentages of the different elements in the human penis of controls and men with ED, respectively, were: elastic fibres 13.2% and 9.1%; collagen fibres 40.8% and 41.6%; and smooth muscle, 40.4% and 42%. CONCLUSIONS: In patients with ED there was a statistically significant reduction in the percentage of elastic fibres, but no statistically significant difference in collagen and smooth muscle fibres, and no appreciable differences in collagen distribution between the groups.
Subject(s)
Erectile Dysfunction/pathology , Penis/pathology , Aged , Biopsy , Erectile Dysfunction/surgery , Extracellular Matrix/pathology , Humans , Immunohistochemistry , Male , Middle Aged , Penile Prosthesis , Penis/surgeryABSTRACT
In this retrospective (1980-1998) study, we have analyzed clinico-demographically, from the records of the University Hospital of Fortaleza (Brazil), a group of 87 patients showing signs and symptoms of motor neuron diseases (MNDs). Their diagnosis was determined clinically and laboratorially. The WFN criteria were used for amyotrophic lateral sclerosis (ALS) diagnosis. The clinico-demographic analysis of the 87 cases of MNDs showed that 4 were diagnosed as spinal muscular atrophy (SMA), 5 cases as ALS subsets: 2 as progressive bulbar paralysis (PBP), 2 as progressive muscular atrophy (PMA) and 1 as monomelic amyotrophy (MA), and 78 cases of ALS. The latter comprised 51 males and 27 females, with a mean age of 42.02 years. They were sub-divided into 4 groups according to age: from 15 to 29 years (n= 17), 30 to 39 years (n= 18), 40 to 69 years (n= 39) and 70 to 78 years (n= 4). From the 78 ALS patients, 76 were of the classic sporadic form whilst only 2 were of the familial form. The analysis of the 87 patients with MNDs from the University Hospital of Fortaleza showed a predominance of ALS patients, with a high number of cases of juvenile and early onset adult sporadic ALS
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Hospitals, University , Motor Neuron Disease/diagnosis , Amyotrophic Lateral Sclerosis/diagnosis , Brazil , Bulbar Palsy, Progressive/diagnosis , Muscular Atrophy, Spinal/diagnosis , Retrospective Studies , Risk FactorsABSTRACT
We report on the preliminary clinical and electrophysiological aspects of an in-patient possibly presenting epilepsia partialis continua (Koshevnikov). We discuss the different etiologies and emphasize on the possible idiopathic form in this case
