Search results for "nervous system diseases"
showing 10 items of 539 documents
One
2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…
Sacral spina bifida occulta rare occurrence in Byzantine Belentepe population in Muğla, Turkey: A possible case for adequate folic acid intake.
2018
Spina bifida may occur during the first weeks after conception; folic acid deficiency is strongly related to this anomaly. We argue that the low prevalence rate of spina bifida may indicate a relatively good nutrition state of a population, given that folic acid is found in many food products commonly eaten. The aim of this study is to examine the relationship between folic acid intake and spina bifida occulta prevalence in the Belentepe Byzantine population in Anatolian peninsula, and to compare the prevalence rates with various other ancient Anatolian populations by focusing on sacral spina bifida occulta in the Byzantine population. A total of 62 available human sacra were included in th…
Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.
2007
The European Task Force for Neuronopathic Gaucher Disease (NGD) met in 2006 to review its 2001 guidelines. Fifty-five patients from five European countries were reviewed; 29 were male and 26 female. The majority of the patients were homozygous for the L444P mutation. All had been on enzyme replacement therapy (ERT). However, there was considerable variation in the dose of ERT, as well as an uneven distribution of risk factors. Thus, the oldest patients were on the lowest doses, and several had had a total splenectomy, while the youngest patients had a high proportion of compound heterozygosity and were on the highest doses, and very few had had a splenectomy. This heterogeneity rendered ana…
Functional properties of motor units in motor neuron diseases and neuropathies.
1997
The relationship between the size of single motor unit (MU) action potentials and their twitch properties was estimated in patients with spinal muscular atrophy (SMA, n = 5) and amyotrophic lateral sclerosis (ALS, n = 10), as well as in patients with peripheral nerve lesions (PNL, n = 9). The data obtained from these groups were compared to normal controls (n = 8). In controls, the single MU twitch force was highly correlated to the corresponding EMG potential size in terms of macro EMG area. An enlargement of MUs, due to collateral sprouting and reflected by increased potential size and twitch force, was found in regenerating PNL and in slowly progressing SMA. Both parameters were highly c…
Frame-based and frameless stereotaxy in the localization of cavernous angiomas
2001
Cavernous angiomas are mostly small intracranial vascular lesions which can be intraoperatively localized by sonography or stereotactic methods. This paper compares the results of cavernous angioma surgery localized by frame-based vs frameless techniques. Thirty-nine patients with cortical or subcortical lobar cavernoma were operated on by a microsurgical trans-sulcal approach. The localization of the lesion was performed in 19 (49%) patients by frame-based technique and in 20 (51%) patients by frameless navigation. In 22 (56%) of the patients, the cavernomas were located in an eloquent cortical area. Ten of 22 of these lesions were localized by frame-based stereotaxy and 12/22 by frameless…
Compliance to therapy with Dapoxetine in patients affected by Premature Ejaculation
2012
Introduction Premature ejaculation (PE) is a sexual dysfunction with high prevalence. According to some reports, it is present in about 20-30% of the male population. Since 2009 PE has been treated with a novel inhibitor of serotonin re-uptake, Dapoxetine, which has been reported to be specifically active for PE. Materials and Methods 59 patients have been selected among the patients affected by PE observed at the outpatient department of Urology and Andrology of the “Paolo Giaccone” University Policlinic Hospital of Palermo. Diagnosis was confirmed unequivocally in all patients, who were suitable for drug treatment and accepted to participate in the study. They were divided in 2 groups: on…
Bovine pericardium for duraplasty: clinical results in 32 patients.
2001
Bovine pericardium has been widely used for grafts in cardiac surgery and seems to have suitable properties for use as a dural graft. We report on the use of solvent-preserved, gamma-sterilized Tutoplast bovine pericardium for dural grafts in 32 patients undergoing cranial and spinal operations with the objective of clinically assessing this material and technique by a retrospective analysis. All available records were reviewed and information regarding the indication for grafting, complications, and outcome were collected and analyzed for all patients. Indications for grafting included tethered cord myelolysis, closure of lumbosacral myeloceles, Chiari decompression, posterior fossa cranio…
Major urinary dysfunction after mesorectal excision for rectal carcinoma
2004
Abstract Background Urinary dysfunction may occur after mesorectal excision and pelvic autonomic nerve preservation (PANP) in patients with rectal carcinoma. The aim of this prospective study was to identify factors predictive of long-term urinary catheterization. Methods Two hundred and ten patients without significant urological problems underwent resection of rectal cancer with mesorectal excision. The number of patients with complete, partial or no identification of the nerves was documented and correlated with possible predictive factors for postoperative major urinary dysfunction. Results Eight patients (3·8 per cent) required long-term urinary catheterization: two after complete PANP…
Cardiovascular autonomic neuropathy in type 1 diabetic patients with and without peripheral neuropathy.
1998
One hundred Type 1 diabetic patients (54 men, 46 women) mean age 28.9 +/- 8.4 years, were selected from among individuals referred to our hospital, with no previous diagnosis of diabetic chronic complications including diabetic neuropathy. After clinical and physical examinations, subjects were divided into two groups: with (n = 37) and without (n = 63) peripheral neuropathy. The percentage of subjects with cardiovascular autonomic neuropathy (AN), diagnosed by positive results to at least two of the five cardiovascular tests (Valsalva ratio, EI ratio, 30/15 ratio, blood-pressure response to standing up and handgrip test), was 40%: 72.9% in the group with peripheral neuropathy and 20.6% in …
Analysis of F-wave in metabolic neuropathies: a comparative study in uremic and diabetic patients.
1987
Motor nerve conduction study along the entire length of the ulnar and tibialis posterior nerves was carried out in 30 diabetics compared with 30 uremic patients and 30 control subjects. The conduction in the proximal and the distal nerve segments was evaluated by the determination of the M and F latencies, MNCV (between the stimulus sites), FWCV (between the spinal cord and the stimulus sites), and F-ratio (conduction time ratio of proximal to distal segment). In both groups of patients the lower limbs appear much more involved than the upper, where the ulnar nerve is more commonly affected in uremic than in diabetic patients. In diabetic neuropathy the motor conduction abnormalities are di…