Henda Chahed

High intensity exercise affects diurnal variation of some biological markers in trained subjects.

The study investigated if markers of muscle injury and antioxidant status were affected by a Wingate test performed at 2 different times of day. 15 young male footballers performed 2 tests (randomized) at 07:00-h and 17:00-h. Fasting blood samples were collected before and 3 min after each test for assessment of markers of muscle injury and antioxidant status. Resting oral temperature was recorded during each session. Peak power (10.76 ± 1.05 vs. 11.15 ± 0.83 W.kg( - 1)) and fatigue index (0.41 ± 0.04 vs. 0.49 ± 0.13%) during the Wingate test, and core temperature, were significantly higher (all p<0.05) in the evening. Markers of muscle injury were significantly higher in the evening before and after exercise (e. g., 148.7 ± 67.05 vs. 195 ± 74.6 and 191.6 ± 79.52 vs. 263.6 ± 96.06 IU.L (- 1), respectively, for creatine kinase; both p<0.001). Antioxidant parameters increased after the Wingate test but only resting values were significantly higher in the morning (e. g., 1.33 ± 0.19 vs. 1.19 ± 0.14 µmol.L (- 1) for total antioxidant status; p<0.05). The results indicate that muscle injury and antioxidant activity after the Wingate test were higher in the evening, suggesting a possible link between the biochemical measures and the diurnal fluctuation of anaerobic performance. However, repetition of this study after prescribed rather than self-selected exercise intensity is recommended.

Morning-to-evening difference of biomarkers of muscle injury and antioxidant status in young trained soccer players

The aim of this study was (i) to evaluate whether homocysteine (Hcy), total antioxidant status (TAS), and biological markers of muscle injury would be affected by time-of-day (TOD) in well-trained soccer players. In a counterbalanced order, 20 soccer players participated on two different occasions between 07:00 and 08:30 h and between 17:00 and 18:30 h. Fasting blood samples were collected from a forearm vein during each session. The results showed that the values of white blood cells (WBC), neutrophils (NE), lymphocytes (LY), and monocytes (MO) are higher in the evening than the morning. Although there was no TOD effect on blood lactate (Lac) levels, significant difference was observed for urea (URE), creatinine (CRE), and blood glucose (GLC) indicating higher evening levels. Moreover, the results also showed diurnal variations of core temperature, resting Hcy levels, and all biological markers of muscle injury [i.e., aspartate aminotransferase (ASAT), creatine kinase (CK), lactate dehydrogenase (LDH)].These parameters were lowest in the morning and tended to rise throughout the day. Furthermore, biomarkers of antioxidant status [i.e., TAS, uric acid (UA), and total bilirubin (TBIL)] displayed a significant effect of TOD with higher morning levels. In conclusion, the present study confirms the diurnal variations of Hcy, selected biological markers of cellular damage, and antioxidant status in young trained soccer players. Our finding suggests the fact that muscle damage and inflammation could be more important in the evening and that antioxidant status is more efficient in the morning.

Time-of-day effects on biochemical responses to soccer-specific endurance in elite Tunisian football players

Abstract This study aimed to investigate footballers’ diurnal variation of performance during the Yo-Yo intermittent recovery test and the associated biochemical responses. Fifteen male footballers (17.3 ± 0.3 years, 69.1 ± 4.2 kg, 179.7 ± 3.6 cm) performed two randomised Yo-Yo tests at 07:00 h and 17:00 h. Blood samples were collected before and 3 min after each test for the assessment of metabolic responses. Resting oral temperature and rating of perceived exertion (RPE) after and peak heart rate during the Yo-Yo test were recorded at both times-of-day. Core temperature and performances during the Yo-Yo test increased from the morning to the evening (P < 0.0005 and P = 0.01, respectively) without significant time-of-day effects on peak heart rate and RPE. Moreover, pre- and post-Yo-Yo test biochemical parameters (high-density lipoprotein, triglycerides, glucose, creatine-kinase) were higher at 17:00 h than 07:00 h (160.45 ± 18.68 vs. 173.73 ± 14.48 before and 191.18 ± 21.13 vs. 219.27 ± 27.74 IU · L−1 after the Yo-Yo test at 07:00 h and 17:00 h, P = 0.032 and P < 0.0005, respectively for creatine-kinase). Only post-exercise lactate levels were higher in the evening (9.82 ± 0.65 vs. 10.86 ± 0.33 mmol · L−1, P < 0.0005) with all biochemical variables being increased after the exercise (P < 0.0005). These findings suggest a possible link between the diurnal fluctuation of metabolic responses and the related pattern of specific-endurance performances in footballers. Therefore, the higher biochemical responses observed in the evening could explain, partially, the greater performance and metabolic solicitation at this time-of-day.

Concomitant Effects of Ramadan Fasting and Time-Of-Day on Apolipoprotein AI, B, Lp-a and Homocysteine Responses during Aerobic Exercise in Tunisian Soccer Players

Objective To examine the time-of-day and Ramadan fasting (RF) effects on serum apolipoprotein-AI (Apo-AI) and B (Apo-B), lipoprotein particles-a (Lp-a), high-sensitive C-reactive-protein (hs-CRP), and homocysteine (Hcy) during the Yo-Yo intermittent recovery test (YYIRT). Design Performance and biochemical measures were completed at two times-of-day (07:00 and 17:00 h), 1-week before RF (BR), the second week of RF (SWR), and the fourth week of RF (ER). Setting For each session, subjects performed the YYIRT, and blood samples were taken before and 3-min after the test for biochemical measures. Participants Fifteen soccer players. Main Outcome Measures Total distance during the YYIRT, core temperature, body composition, dietary intakes, lipid (HDL-C, LDL-C, Apo-AI, B and Lp-a) and inflammatory (hs-CRP and Hcy) profiles. Results Performances during the YYIRT were higher in the evening than the morning BR (P < 0.05), but this fluctuation was not observed during RF. Moreover, LDL-C, ApoB, and Lp-a were stable throughout the daytime BR. However, during RF, they decreased at 17:00 h (P < 0.05). Likewise, HDL-C and Apo-AI increased after the exercise and were higher at 17:00 h BR (P < 0.001). Moreover, these parameters increased during RF (P < 0.01). Furthermore, Hcy and hs-CRP increased during the exercise (P < 0.01) with higher evening levels BR. During ER, the diurnal pattern of Hcy was inversed (P < 0.001). Conclusions This study concluded that caloric restriction induced by RF seems to ameliorate lipid and inflammatory markers of cardiovascular health during intermittent exercise performed in the evening.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

BackgroundMucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.Aim of study: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.Patients and methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.ResultsTwo novel IDUA mutations, p.L530fs (1587_1588 insGC) in exon 11 and p.F177S in exon 5 and two previously reported mutations p.P533R and p.Y581X were detected. The patient in family 1 who has the Hurler phenotype was homozygous for the previously described nonsense mutation p.Y581X.The patient in family 2 who also has the Hurler phenotype was homozygous for the novel missense mutation p.F177S. The three patients in families 3, 5 and 6 were homozygous for the p.P533R mutation. The patient in family 4 was homozygous for the novel small insertion 1587_1588 insGC. In addition, eighteen known and one unknown IDUA polymorphisms were identified.ConclusionThe identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.BackgroundMucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of the enzyme of α-L-iduronidase (IDUA, EC 3.2.1.76). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. The clinical phenotype of MPS I ranges from the very severe in Hurler syndrome (MPS IH) to the relatively benign in Scheie syndrome (MPS IS), with an intermediate phenotype designated Hurler/Scheie (MPS IH/S) [1]. Isolation of complementary and genomic DNAs encoding human α -L- iduronidase [2, 3] have enable the identification of mutations underlying the enzyme defect and resulting in MPS I clinical phenotype. More than 100 mutations have been reported in patients with the MPS I subtypes (Human Gene Mutation Database; http://www.hgmd.org). High prevalence of the common mutations p.W402X and p.Q70X has been described; both of them in the severe clinical forms [4, 5]. A high prevalence of common mutation p.P533R has also been described in MPS I patients with various phenotypes [5, 6]. In addition, rare mutations including single base substitution, deletion, insertion and splicing site mutation have been identified [7], indicating a high degree of allelic heterogeneity in IDUA gene.Here, we described two novel IDUA mutations in MPS I Tunisian patients. These lesions were homoallelic in all the patients of the six families investigated as consanguineous marriages are still frequent in Tunisia [8].

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.

Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation.Aim of the studyconsanguinity rates have been determined among 14 families with mucopolysaccharidosis type I, seen in the pediatric departments of different geographic areas of Tunisia (Central and Southern areas) for the period August 2004 - August 2011 in order to investigate the relation between consanguinity and this disorder.Patients and methodsClinical and molecular analyses confirmed the diagnosis for MPS type I in the studied families.ResultsMost of the Tunisian MPS I patients have been identified at the homozygous status: p.P533R mutation (7 homozygous and one double heterozygous p.L578Q/p.P533R patients; 41.66% of all the investigated MPSI patients), p.F177S (1 homozygous patient; 5.55%), p.L530fs (1 patient; 5.55%), p.Y581X (2 patients; 11.11%), p.F602X (3 patients; 16.66%), p.R628X (1 patient; 5.55%). Another mutation: p.L578Q has been identified at the heterozygous status in the only double heterozygous p.L578Q/p.P533R case. Part of the mutations was the result of a founder effect. These described points are the consequences of the high rate of consanguinity.ConclusionThe high frequency of p.P533R mutation could be explained by the high degree of inbreeding. This is due to the richness of the genetic background of the studied population.A multidisciplinary approach is essential to develop adequate preventive program adapted to the social, cultural, and economic context.Virtual SlidesThe virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1863141266606652

Hsp70-2 gene polymorphism: susceptibility implication in Tunisian patients with coronary artery disease

AbstractCoronary artery disease (CAD) is a multifactorial disease where genetic and environmental factors interact in complex ways to cause the disease. Heat shock protein genes are involved in the progress of CAD. This implies that genetic variants of Hsp70–2 genes might contribute to the development of the CAD.Aim of studyThe aim of this study was to characterize statistical correlation of linkage between lipid profiles, polymorphism PstI site of Hsp70–2 gene and CAD.Patients and methodsThis study was carried out on Tunisian patients with CAD recruited from Hospital of Fattouma Bourguiba of Monastir-Tunisia. Polymerase chain reaction and restriction enzymes were used to determine the genotypic distributions in 252 unrelated patients and 151 healthy control subjects. Further, ApoA-I and ApoB as well as the serum total of cholesterol, HDL, triglyceride, and hs-CRP levels were measured.ResultsWe showed a decreased level of ApoA-I, whereas the levels of each of ApoB and hs-CRP were increased in patients with CAD compared with control group. In addition our studies of a polymorphic PstI site of Hsp70-2 gene at position 1267 of the Hsp70–2 gene have revealed that the allelic frequency of P2 was significantly more frequent in CAD patients than controls group (p=0.007, OR=1.495). The genotypic distribution showed a high incidence of P2/P2 genotype in CAD patients (0.190) compared to healthy control (0.009) with reach significant difference (p=0.006). The P2 carriers showed a significantly increased of Total-Cholesterol (CT) and C-reactive protein (hs-CRP) levels in CAD patients (p=0.008 and p=0.018, respectively).ConclusionThe high incidence of P2-Hsp70-2 genotype in CAD patients and the significantly association of P2/P2 genotype with elevated Total Cholesterol and hs-CRP levels, supported that P2–Hsp70–2 genotype has susceptibility implication in CAD and could increased the risk of CAD in Tunisian population.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1118340895703689

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involved in the oxidation of LGA to the alpha 2-ketoglutarate. LGA has been proposed as an endo- and exogenous cytotoxic organic acid that induces free radical formation and generation of reactive oxygen species (ROS). In this report, we analyzed 14 L2HGA patients belonging to six unrelated consanguineous families the south of Tunisia. The patients were diagnosed with L2HGA disease confirmed on the presence of high level of LGA in urine. We analyzed the L2HGDH gene in all probands and identified the same c.241A>G homozygous mutation, which was previously reported in Tunisia. We also used intragenic single nucleotide length polymorphisms (SNPs) and two extragenic microsatellites flanking the L2HGDH gene to confirm the founder effect of c.241A>G mutation in the 14 studied cases. In addition, we carried out the measurement of the oxidative stress parameters in the plasma of L2HGA patients which revealed a significant increase in the malondialdehyde levels (MDA), a biomarker of lipid peroxydation, and the reduced glutathione (GSH). A diminution of the antioxidant enzyme activities including superoxide dismutase (SOD), glutathione peroxidase (GPx), was also observed.

Apolipoprotein A-I, apolipoprotein B, high-sensitivity C-reactive protein and severity of coronary artery disease in tunisian population

BACKGROUND The relationship between Apolipoprotein A-I, Apolipoprotein B, C-reactive protein and the severity coronary artery disease in Tunisian CAD patients has not been examined. We investigated the association between serum ApoA-I, ApoB, hs-CRP and the severity of coronary artery disease. METHODS This study was carried out on 180 patients who underwent angiography and 129 healthy controls. ApoA-I and ApoB as well as the serum total cholesterol, HDL, triglyceride, LDL and hs-CRP levels were measured. The ApoB/ApoA-I ratio was calculated. RESULTS We showed a decreased level of ApoA-I and an increased level of ApoB, ApoB/ApoA-I ratio and hs-CRP in CAD patients compared to the control group (P<.001). In addition, we showed a significant increase of ApoB, ApoB/ApoA-I ratio and hs-CRP in CAD patients presenting 0 to 3 vessels stenosis (P<.001). Multivariate analysis showed that ApoB (P<.001), and hs-CRP (P<.001) were independent predictors of the severity of CAD. CONCLUSION In this study, ApoB and hs-CRP levels were markedly associated with the severity of CAD in Tunisian patients. We suggested that synergistic effects between dyslipidemia and inflammation led to increase the risk of the severity of CAD.

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in TunisiaPatients and methodsA preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands. The IDS mutation and polymorphisms were determined on these probands and their family members by amplifying and sequencing each of the exons and intron-exon junctions of IDS gene.ResultsThe studied probands were homoallelic for p.R88P mutation. In addition, three known polymorphisms/sequence variants: IVS3-16 (c.419-16 delT), T214M (c.641C > T), T146T (c.438 C > T), IVS5-87(c.709-87G > A) and one previously unknown: IVS7+38(c.1006+38T > C were identified in the MPS II patients. These are the first Tunisian MPS II patients to be genotyped.ConclusionThe identification of these mutation and polymorphisms and their genotype-phenotype correlation should facilitate prenatal diagnosis and counseling for MPS II in Tunisia, where a very high rate of consanguinity exists.