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Biomedical subjects

I Manna

Publications and source records attributed to I Manna.

16 recordsLinked to original sources
PubMed2007

Investigating the role of brain-derived neurotrophic factor in relapsing-remitting multiple sclerosis.

Multiple sclerosis (MS) is a common, heterogeneous disorder of the central nervous system with a complex trait composed of both genetic and environmental factors. Recently, scientific interest has increased in defining factors that possibly contribute to brain functional plasticity; the results might be useful to assess the relationship between MS lesion burden and clinical events, as well as explaining the well-known phenotypic heterogeneity of the disease. In this study, we explored the effect of the Val66Met brain-derived neurotrophic factor (BDNF) functional polymorphism on cognitive performances and volumetric measurements obtained by magnetic resonance imaging of the brain in a selected population of relapsing-remitting MS (RRMS) patients, with relatively short disease duration and minimal clinical disability, compared to gender, age and educational-level matched healthy subjects. We found that in the RRMS group, the BDNF Met-allele was significantly associated with the lower volume of cerebral grey matter (GM) (P = 0.005). Furthermore, a significant (P = 0.013) interaction effect between 'MS-status' and the BDNF genotype was found for GM volumes, with the result that patients carrying the BDNF Met-allele showed a higher risk of developing global GM atrophy than the homozygous Val/Val. No BDNF-related impact on global neuropsychological functions resulted in either RRMS patients or controls. Our data seem to be consistent with the reported influence of BDNF in neuronal plasticity, thus suggesting that the Met-allele might have a negative prognostic effect on cortical morphometry in RRMS patients.

Adolescent↗
PubMed2006

Genetic variation in the myeloperoxidase gene and cognitive impairment in multiple sclerosis.

There is evidence that multiple sclerosis (MS) may associated with cognitive impairment in 25 to 40% of cases. The gene encoding myeloperoxidase (MPO) is involved in molecular pathways leading to beta-amyloid deposition. We investigated a functional biallelic (G/A) polymorphism in the promoter region (-463) of the MPO gene in 465 patients affected by MS, divided into 204 cognitively normal and 261 impaired. We did not find significant differences in allele or genotype distributions between impaired and preserved MS patients. Our findings suggest that MPO polymorphism is not a risk factor for cognitive impairment in MS.

Alleles↗
PubMed2005

Supplementary effect of carbohydrate-electrolyte drink on sports performance, lactate removal & cardiovascular response of athletes.

BACKGROUND AND OBJECTIVE: Carbohydrate-electrolyte drink has a significant role on energy balance during exercise. The present study was designed to investigate the effect of oral carbohydrate-electrolyte supplementation on sports performance and cardiovascular status of the national level male athletes during exercise and recovery. METHODS: A total of 10 male athletes (age range: 20-25 yr) were selected. The experiment was performed in laboratory (25 degrees C and 60% relative humidity) in two phases; phase 1 - no supplementation, and phase 2 - a 5 g per cent carbohydrate-electrolyte drink was given orally during exercise and a 12.5 g per cent carbohydrate-electrolyte drink during recovery. Subjects performed an exercise test at 70 per cent of VO(2)max. Performance time, heart rate during exercise and recovery were noted, blood samples were collected during exercise and recovery for the analysis of glucose and lactate levels in both the phases. RESULTS: Significant improvements were noted in total endurance time, heart rate responses and blood lactate during exercise at 70 per cent VO(2)max after the supplementation of 5 g per cent carbohydrate-electrolyte drink. However, no significant changes were noted in blood glucose and peak lactate level irrespective of supplementation of carbohydrate-electrolyte drink. Significant improvement in cardiovascular responses, blood glucose and lactate removal were noted during recovery following a 12.5 g per cent carbohydrate-electrolyte drink. INTERPRETATION AND CONCLUSION: Carbohydrate-electrolyte drink can increase endurance performance as well as enhance lactate removal and thereby delaying the onset of fatigue.

Analysis of Variance↗
PubMed2004

Synchronous colorectal cancer.

Synchronous carcinomas of the colon and rectum are of considerable clinical significance because of their frequency, the number of extra tumours missed and the difficulty of preoperative diagnosis. A retrospective evaluation of 283 patients with primary colorectal adenocarcinomas was performed. There were 6 patients with 12 synchronous adenocarcinomas (2.12%). Colonoscopy and double-contrast barium enema revealed the synchronous cancer in 66.6% of the cases. In two cases the second cancer was found intraoperatively. In one patient an urgent laparotomy was performed because of acute abdomen caused by perforation of the ascending colon. Typical colectomies, depending upon the segment of the location of the lesion, were performed. Second cancers had a significantly more favourable stage than index colorectal adenocarcinomas. The index and the secondary cancers of synchronous colorectal adenocarcinomas showed a better histologic grade (well differentiated type) than the single cancers. Full clinical and radiological investigation is essential, before any operation is undertaken for colorectal cancer.

Adenocarcinoma↗
PubMed2004

Application of radionics on primary and metastatic tumours of the liver.

The aim of our study is to present our initial experience on the use of radiofrequency ablation (RFA) on hepatic tumours. Four patients with tumours of the liver were submitted to RFA. The first patient underwent an emergency left lobectomy due to rupture of a tumour of the left hepatic lobe. A synchronous tumour was detected on the right lobe. He has been submitted to four sessions of RFA. The second patient was submitted to transverse colon resection (adenocarcinoma) and a year later three metastatic tumours were detected. Two sessions of RFA have been applied in this case. The third patient, with adenocarcinoma of the sigmoid and one metastatic lesion on the right hepatic lobe, and the fourth patient with breast cancer and metastatic lesion of the liver, underwent one session of RFA each. The use of RFA on metastatic or primary tumours of the liver enriches the possibilities of therapeutic treatment.

Aged↗
PubMed2004

A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.

We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier, it is suggested that either a de novo mutation or a censor effect might have occurred. Our finding supports the indication that PSN1 mutations should be searched for in early-onset AD, particularly when a censor effect precludes a precise genetic analysis.

Alzheimer Disease↗
PubMed2004

Effect of different intensities of swimming exercise on testicular oxidative stress and reproductive dysfunction in mature male albino Wistar rats.

Swimming exercise for 1, 2 and 3 hr for 5 days/week for consecutive 4 weeks, results in a significant reduction in testicular, epididymal, prostetic, seminal vesicle somatic indices; epididymal sperm count, sperm motility; preleptotine spermatocytes, mid pachytene spermatocytes and stage 7 spermatids; plasma levels of testosterone, luteinizing hormone; testicular delta5, 3beta-hydroxysteroid dehydrogenase, 17beta-hydroxysteroid dehydrogenase; testicular superoxide dismutase, catalase, glutathione peroxidase, glutathione-s-transferase and glutathione along with significant elevation in malondialdehyde in male albino rats. However, no significant change was noted in final body weight, spermatogonia-A and plasma level of follicle stimulating hormone. The results that oxidative stress develops with the increasing of exercise intensity, which may interfere in male reproductive activities.

Animals↗
PubMed2003

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.

BACKGROUND: Dysfunction of gamma-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). OBJECTIVE: To evaluate the genetic contribution of cloned human GABA(B) receptors to TLE. METHODS: The authors genotyped 141 patients (78 women and 63 men; mean age = 49.1 +/- 18.0 years) with nonlesional TLE and 372 age- and sex-matched normal individuals for the known polymorphism G1465A in the human GABA(B) receptor 1 [GABA(B[1])] gene. RESULTS: There was a highly significant overrepresentation of the G1465A heterozygote in patients with TLE compared with controls. The A/G genotype was found in 17% of the 141 patients with TLE and in only 0.5% of the 372 controls (p < 0.0001). The authors also found that patients carrying the A allele had a significantly higher risk (p = 0.003, OR = 6.47, 95% CI = 2.02 to 20.76) of developing drug-resistant TLE. Furthermore, the age at onset of seizures tended to be lower in patients with A/G genotype, but the difference was not significant. CONCLUSIONS: The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.

Age of Onset↗
PubMed2003

Effect of intensive exercise-induced testicular gametogenic and steroidogenic disorders in mature male Wistar strain rats: a correlative approach to oxidative stress.

AIMS: In order to investigate the effects of intensive exercise on reproductive dysfunctions in relation to oxidative stress, a total of 12 male rats (age: 3 months, weight: 127 +/- 2.86 g) were randomly divided into: (1) control group (CG, n = 6) and (2) experimental group (Exp. G, n = 6). METHODS: An exercise protocol of 3 h swimming day(-1), 5 days week(-1) was followed for 4 weeks in Exp. G, with no exercise in CG. All the animals were killed; blood, testes and the accessory sex organs were collected for estimation of different parameters. RESULTS: A significant diminution (P < 0.001) was noted in testicular Delta5, 3beta-hydroxy-steroid dehydrogenase (Delta5, 3beta-HSD), 17beta-hydroxy steroid dehydrogenase (17beta-HSD); plasma levels of testosterone, luteinizing hormone (LH); preleptotine spermatocytes (pLSc), midpachytene spermatocytes (mPSc) and stage 7 spermatids (7Sd); with no significant alteration in follicle stimulating hormone (FSH) and spermatogoia A (Asg) after intensive exercise. A significant elevation (P < 0.001) in malondialdehyde (MDA) and conjugated dienes (CD) along with significant reduction (P < 0.001) in glutathione (GSH), superoxide dismutase (SOD), catalase (CAT), glutathione-s-transferase (GST) and peroxidase were found in testes of Exp. G. Moreover, the somatic index of testes and accessory sex organs were also decreased significantly (P < 0.001) after exercise. High correlations have been found in 17 beta-HSD with CAT (r = 0.90, P < 0.05) and peroxidase (r = 0.83, P < 0.05), epididymal somatic index with CD (r = -0.91; P < 0.05) and GSH (r = 0.84, P < 0.05). CONCLUSION: The present study focused an chronic intensive exercise-induced oxidative stress that may cause dysfunctions in male reproductive system including steroidogenesis and spermatogenesis.

Animals↗
PubMed2002

Genetic association of alpha2-macroglobulin polymorphisms with AD in southern Italy.

The authors investigated the segregation of two polymorphisms of the alpha2-macroglobulin gene (A2M-I/D and A2M-Ile1000Val) in patients with sporadic AD from southern Italy. The A2M-I and A2M-Val1000 alleles were more frequent in cases than in controls, and this effect was independent from the APOE-epsilon4 status as well as from the age at onset of AD. Moreover, subjects carrying the A2M genotype I/I-Val/Val had a threefold increase of risk for AD. These data support a population-based susceptibility for AD linked to A2M polymorphisms.

Aged↗
PubMed2001

A comparative study of foot dimension between adult male and female and evaluation of foot hazards due to using of footwear.

Using footwear often becomes troublesome and creates many problems. Most of these problems are associated with the wearing of ill-fitting footwear, as it leads to biomechanical imbalance and ultimately give rise to different foot problems. In the present investigation different foot problems, viz., discomfort, pain and other hazards related to the use of footwear have been evaluated and attempts have been made to study different foot dimensions of men and women that are related to the design of footwear. For the present study different foot dimensions of both right and left feet of the subjects were measured on 300 Bengalee (Indian) subjects having the age range of 20-35 years. The subjects reported that they had got discomfort, pain, blister and corn due to using different footwear. It was noted that the occurrence of these problems in right foot was greater than that in left foot. There was no significant correlation between foot troubles and type of footwear. Results also showed that there was no significant difference in most of the foot dimensions between left foot and right foot. However, significant difference (P < 0.001) in all foot dimensions was observed between male and female subjects. Correlation coefficient among different foot dimensions has also been evaluated and it was noted that foot length was highly correlated with stature and foot volume, particularly in left foot. Footwear should be made according to the foot dimensions of the user population. The database collected from the Bengalee (Indian) population may be a helpful guide for manufacturing different footwear.

Adult↗
PubMed1999

Apolipoprotein E polymorphisms and Parkinson's disease.

The apolipoprotein E (APOE) gene polymorphism has been studied in Parkinson's disease (PD) with conflicting results. Recently, a newly described functional polymorphism in the regulatory region of the APOE gene, (-491 A/T), has been associated with late-onset Alzheimer's disease. We studied the association between these two polymorphisms of the APOE gene with PD in a sample of 126 PD patients and in 119 controls from the same geographic background. Allelic and genotypic frequencies were not different between PD cases and population controls for either the APOE or -491 A/T polymorphism. The age at onset of the disease was not different according to the specific genotypes of the two polymorphisms of the APOE gene.

Adult↗
PubMed1999

Apolipoprotein E polymorphisms and the risk of nonlesional temporal lobe epilepsy.

PURPOSE: To evaluate whether the inheritance of the apolipoprotein E (ApoE) epsilon4 allele is a risk factor for nonlesional temporal lobe epilepsy (TLE), and to determine whether the newly described -491 A/T ApoE polymorphism may independently affect the risk of nonlesional TLE. METHODS: The study group consisted of 63 patients (35 women and 28 men; age at onset of epilepsy, 30.6 +/- 19.6 years; mean (+/-SD). All of them had received a diagnosis of nonlesional TLE after a detailed clinical, electroencephalographic, and brain magnetic resonance investigation. The ApoE polymorphisms were determined from blood samples by standard methods. The molecular study also was performed in 220 age- and sex-matched normal individuals. RESULTS: There were no differences between TLE patients and controls in either allelic or genotypic frequencies of the ApoE and -491A/T polymorphisms. Moreover, no effect of ApoE or -491A/T polymorphisms was found on the age at onset and severity of epilepsy. CONCLUSIONS: The allelic and genotypic frequencies of ApoE polymorphisms in Italian patients with nonlesional TLE are comparable to control values, indicating that ApoE polymorphisms are not a significant genetic risk factor for the occurrence of nonlesional TLE.

Adult↗
PubMed1999

APOE and risk of cognitive impairment in multiple sclerosis.

OBJECTIVES: The APOE gene polymorphism and the -491 A/T polymorphism in its regulatory region have been associated with an increased risk for developing Alzheimer's disease. We examined these polymorphisms in multiple sclerosis (MS) patients, to determine if a genetic predisposition may explain the risk for developing cognitive decline in MS. MATERIAL AND METHODS: Eighty-nine relapsing-remitting and secondary progressive MS patients underwent to a full neuropsychological battery as well as to determination of APOE and -491 A/T polymorphisms. Genetic analysis was also performed in 107 population controls. RESULTS: The APOE polymorphism was not associated with the risk of cognitive impairment in MS patients. The AA genotype of the -491 A/T polymorphism in the APOE regulatory region was more frequent in cognitively impaired than in cognitively preserved MS subjects. CONCLUSION: The AA homozygous state of the -491 A/T polymorphism of the APOE regulatory region is associated with cognitive impairment in patients with MS.

Adult↗
PubMed1997

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in south-east Sicily, we have analysed the G6PD gene in 25 unrelated males with abnormal G6PD activity and/or electrophoretic mobility, by using the analysis of the appropriate PCR-amplified fragment of DNA and subsequent digestion by appropriate restriction-enzymes, looking for the presence of certain known G6PD mutations. We amplified the entire G6PD coding sequence into eight fragments, followed by single-strand conformation polymorphism (SSCP) analysis and sequencing of those individual fragments that were found to be abnormal by SSCP. Through these methods we found a total of twelve G6PD Mediterranean variants with the association of a silent mutation 1311 (also known as polymorphic site Bcl I), one G6PD Mediterranean without this association, four G6PD A-Val 68 and two G6PD Santamaria and five G6PD Chatham. In a subject with normal activity a mutation was found in exon 5, designated as G6PD Sao Borja. This is the first report on the molecular analysis of G6PD mutations in Sicily and we have obtained evidence for four distinct classes of variants.

Female↗