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ABSTRACT: 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.
International Journal of Sports Medicine 07/2012; 33(11):886-91. · 2.43 Impact Factor
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ABSTRACT: Mucopolysaccharidosis type IVA or Morquio A disease is an autosomal recessive disease resulting from a deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate-sulfatase, which hydrolyses N-acetylgalactosamine-6-sulfate and galactose-6-sulfate in glycosaminoglycans. Phenotypes in Morquio A disease vary from the classical form with severe bone dysplasia, heart valve involvement, corneal opacity, short trunk dwarfism and a life span of 20 to 30 years, to attenuated forms with normal life span, mild bone involvement and mild visceral organ involvement. Unlike the other forms of mucopolysaccharidoses, Morquio A disease is characterized by normal intelligence.
The aims of this study were to determine if the novel GALNS anomalies IVS1+1G-A and G66R identified in Tunisia are mutations or polymorphisms.
This study was carried out on six Morquio A patients recruited from many regions of Tunisia. We have used SCCP, sequencing and enzymatic digestion.
IVS1+1G-A and G66R were two deleterious mutations and not polymorphisms.
Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. It should also facilitate more accurate genetic counselling of newly diagnosed cases and their family members.
Pathologie Biologie 11/2011; 60(3):190-2. · 1.53 Impact Factor
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A Chalghoum,
Y Noichri,
L Chkioua,
I Gammoudi,
A Dandana,
H Chahed,
S Khelil,
G Jeridi,
B Baudin, S Ferchichi,
A Miled
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ABSTRACT: The acute coronary syndromes (ACS) are classified among the major causes of mortality in the industrialized countries. The increased angiotensin I converting enzyme (ACEI) activity related to a genetic polymorphism constitutes a hereditary predisposition to these syndromes.
Evaluate the ACEI activity in Tunisian patients with coronary heart disease, and investigate the association between this activity and an intronic deletion of 287 pb on the intron 16 of the ACEI gene.
Seventy-two coronary patients and 34 control subjects are recruited for our study. ACEI activity was measured by kinetic method. The intronic deletion was identified by PCR technique.
An increased activity of ACEI was observed in patients compared with control subjects (84.38 ± 33.83 UI/L vs 59.06 ± 18.2 UI/L, P=10(-5)). The molecular study showed a raised relative frequency of D/D genotype (51.4%) among patients, whereas among the witnesses, I/I genotype prevailed (62%). D/D genotype is always associated with highest ACEI activity for the patients and the control subjects.
The molecular studies and the biochemical investigations of the various parameters of cardiovascular risk (including the ACEI) direct towards a better treatment.
Annales de cardiologie et d'angeiologie 01/2011; 60(3):135-40. · 0.21 Impact Factor
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A Dandana, S Ferchichi,
S Ben Khelifa,
Z Jaidane,
K Monastiri,
L Chkioua,
I Maire,
R Froissart,
V Bonnet,
S Laradi,
A Miled
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ABSTRACT: Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The application of combined methods in molecular biology allowed us to analyse the p.Asn 370 Ser mutation. The affected individual activity is very low. First, we have to used the enzymatic digestion method. Then, we have to identified the mutation by the refractory mutation system technique using specific primers for the p.Asn 370 Ser mutation. These analyses are supplemented by the direct sequencing in order to seek and confirm this mutation. Finally, the absence of the 55 pb deletion in exon 9 among corroborated the presence of the homozygous genotype of this p.Asn 370 Ser in the patient DNA.
Pathologie Biologie 04/2008; 56(2):88-93. · 1.53 Impact Factor
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L Chkioua,
S Khedhiri,
Z Jaidane, S Ferchichi,
S Habib,
R Froissart,
V Bonnet,
M Chaabouni,
A Dandana,
T Jrad,
H Limem,
I Maire,
M Abdelhedi,
S Laradi
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ABSTRACT: Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. The aim of our study was to propose in Tunisia a strategy of molecular and prenatal diagnosis of the MPS I.
Our study was carried out on 8 MPS I patients recruited from different Tunisian regions and issued from 5 unrelated families. All the patients were offspring of consanguineous marriages.
The clinical and biological study led to diagnose 5 Hurler patients and 3 Hurler-Scheie patients. Three IDUA mutations were identified by molecular analysis within 6 different families: a novel mutation p.F602X and 2 already described mutations p.P533R and p.R628X.
MPS I is a heterogeneous disease characterized by variability of the phenotypes. The missense mutation p.P533R associated with the intermediate phenotype was the most frequent in the Tunisian but also in the Moroccan population. In Tunisia, the incidence of p.P533R mutation seems to be associated with the high frequency of consanguineous marriages.
The identification of known MPS I mutations (p.P533R and p.R628X) and of the novel mutation p.F602X permits reliable genetic counselling of at-risk relatives and molecular prenatal diagnosis.
Archives de Pédiatrie 11/2007; 14(10):1183-9. · 0.30 Impact Factor
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ABSTRACT: Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfatase (GALNS), and the progressive lysosomal accumulation of sulfated glycosaminoglycans. Clinically, the severe form of this lysosomal storage disease is characterized by a characteristic severe bone dysplasia and normal intelligence. To date, a variety of mutations have been associated with the severe MPS IVA phenotype. Here, we report the GALNS mutations in six severe MPS IVA patients from four unrelated Tunisian families. For mutation detection, each of the 14 exons and adjacent intron-exon junctions of the GALNS gene were sequenced after PCR-amplification from genomic DNA. Two novel mutations were identified: a G to A transition in the conserved 5' donor splice site of intron 1 (GACgt-->GACat: designated IVS1(+1g-->a)) and a G to C transversion in codon 66 of exon 2 predicting a glycine to arginine substitution (G66R). The IVS1(+1g-->a) mutation was homozygous in five similarly affected patients from three presumably unrelated families, but haplotype analysis suggested a common ancestor. The affected patient in the fourth family was homozygous for the G66R mutation. These are the first GALNS mutations causing severe MPS IVA disease identified in Tunisia. These molecular findings provide genotype/phenotype correlations, and permit accurate carrier detection, prenatal diagnosis, and counseling for MPS IVA disease in Tunisia where first cousin consanguineous mating remains frequent.
Molecular Genetics and Metabolism 04/2006; 87(3):213-8. · 3.19 Impact Factor
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ABSTRACT: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has severe and milder phenotypic subtypes. The IDUA mutations in five MPS I patients from
three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons
and intron–exon junctions. Two novel IDUA mutations, c.1805delTinsGAACA in exon 13 and I270S in exon 7, and two previously
reported mutations, P533R and R628X, were detected. The two patients in family 1 who had the Hurler phenotype were homoallelic
for the novel deletion-insertion mutation. The patient in family 2 who also had the Hurler phenotype was heteroallelic for
the novel missense mutation I270S and the previously reported nonsense mutation R628X. The two patients in family 3 who had
the Hurler–Scheie phenotype were homoallelic for P533R. In addition, six known IDUA polymorphisms were identified. These are
the first Tunisian MPS I patients to be genotyped. The identification of these mutations and their genotype–phenotype correlations
should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists.
Journal of Inherited Metabolic Disease 11/2005; 28(6):1019-1026. · 3.58 Impact Factor
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ABSTRACT: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme alpha-L-iduronidase (IDUA). The disease has severe and milder phenotypic subtypes. The IDUA mutations in five MPS I patients from three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons and intron-exon junctions. Two novel IDUA mutations, c.1805delTinsGAACA in exon 13 and I270S in exon 7, and two previously reported mutations, P533R and R628X, were detected. The two patients in family 1 who had the Hurler phenotype were homoallelic for the novel deletion-insertion mutation. The patient in family 2 who also had the Hurler phenotype was heteroallelic for the novel missense mutation I270S and the previously reported nonsense mutation R628X. The two patients in family 3 who had the Hurler-Scheie phenotype were homoallelic for P533R. In addition, six known IDUA polymorphisms were identified. These are the first Tunisian MPS I patients to be genotyped. The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists.
Journal of Inherited Metabolic Disease 02/2005; 28(6):1019-26. · 3.58 Impact Factor
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S Ferchichi,
A Kassab-Chekir,
S Laradi,
D Amira,
Z Jaidane,
H Chahed,
E Chahed,
L Chkioua,
H Ben Limam,
S Bouchoucha,
A Miled
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ABSTRACT: Toxic epidermal necrolysis (TEN) is a rare drug-induced disease characterized by extensive epidermal destruction. We reported here a case of Lyell syndrome which happened few hours later after treatment associating lincomycine chlorhydrate with nonsteroidol anti-inflammatory drugs. The 28-year-old female patient developed many visceral complications with biochemical and haematological disorders. This syndrome is a dermatological emergency whose vital prognosis is displayed.
Annales de biologie clinique 62(5):578-82. · 0.34 Impact Factor
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L Chkioua, S Ferchichi,
S Khedhiri,
S Laradi,
A Bibi,
D Amira,
A Dandana,
R Ben Mansour,
H Ben Limam,
M Chaabouni,
R Froissart,
I Maire,
A Miled
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ABSTRACT: A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase activity (IDUA). The most common mutation (p.Gln 70 X, p.Trp 402X and p.Pro 533 Arg) were researched by an enzymatic restriction and sequencing of the IDUA gene. Enzymatic and urinary diagnostics suggested a MPS I phenotype. The patient investigated had the mutation p.Pro 533 Arg in the homozygous status, whereas his parents were heterozygous for this mutation.
Annales de biologie clinique 65(2):175-9. · 0.34 Impact Factor
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ABSTRACT: Lipid and glycemic imbalances are frequent disorders found in diabetes type 2. These disorders are influenced by dietary means. Aim: to investigate saturated fatty acids (SFA), polyunsaturated fatty acids (PUFS) and oleic acid of cholesterol ester fraction in non-insulin dependant diabetes mellitus without cardiovascular complications (NIDDM), non-insulin dependant diabetes mellitus with cardiovascular complications (NIDDMc) and healthy controls.
The composition of cholesterol ester fatty acids in 35 NIDDM, 33 NIDDMc and 32 controls were measured by gas-chromatography. Glycaemia and lipid profile were measured using commercial kits.
Compared to NIDDM and to controls, NIDDMc showed a significant increase of different SFA (C12:0, C14:0, C16:0, C18:0). Oleic acid (C18:1) was significantly decreased in NIDDMc and NIDDM compared to controls (15,88 +/- 2,34 and 22,66 +/- 4,14 vs 28,18 +/- 2,90). Linoleic acid (C18:2) was significantly increased in NIDDMc compared to NIDDM and controls (52,59 +/- 5,50 vs 49,29 +/- 8,58 and 39,26 +/- 10,46). Linolenic acid (C18:3) and arachidonic acid (C20:4) were significantly decreased in NIDDMc compared to NIDDM and to controls. Linoleic acid (C18:2) / linolenic acid (C18:3) ratio was increased in NIDDMc.
Linoleic (C18:2) acid excess intake found in our NIDDMc could emphasize arachidonic synthesis which is directly transformed while an inflammatory syndrome observed in coronary pathologies.
Annales de biologie clinique 62(5):555-62. · 0.34 Impact Factor
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Annales de biologie clinique 61(1):81-3. · 0.34 Impact Factor
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ABSTRACT: Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive lysosomal storage disorder caused by a genetic deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4). GALNS is required to degrade keratan sulfate (KS) and chondroitine-6-sulfate (C6S). The accumulation of undegraded substrates in lysosomes of the affected tissues leads to a systemic bone dysplasia. Total urine glycosaminoglycans (GAG) in patients with MPS IVA are close to the normal range so it is difficult to distinguish this disease based on urine GAG excretion. Another potential disease marker could be KS levels in urine and plasma. Although the enzymatic diagnosis of affected patients with MPS IVA can be made, the detection of obligate heterozygotes by enzymatic measurement is less reliable because of a marked overlap of GALNS in fibroblasts or leucocytes from affected phenotype and normal controls. The genetic heterozygoty of MPS IVA has been facilitated by the isolation and characterization of the full lengh cDNA encoding human GALNS. Conventional therapy is symptomatic and limited to palliative procedures, which have virtually no impact upon mortality. To date, there is still no general consensus about the effectiveness of bone marrow transplantation. In the future, gene therapy could represent a great therapeutic improvement.
Annales de biologie clinique 65(1):5-11. · 0.34 Impact Factor
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A Dandana, S Ferchichi,
S Khedhiri,
L Chkioua,
Z Jaidane,
K Monastiri,
S Ben Khelifa,
R Ben Mansour,
I Maire,
R Froissart,
V Bonnet,
S Laradi,
A Miled
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ABSTRACT: Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father beta-glucocerebrosidase (GCB) activity showing a deficit. These biochemical analyses are supplemented by molecular studies: enzymatic digestion and the direct sequencing. Two mutations were analysed, the p.Asn 370 Ser and the p.Leu 444 Pro. The DNA sequencing confirmed the presence of the homozygous genotype of this p.Asn 370 Ser in the father DNA and the heterozygous one in the two children DNA. It has no detection of the 55 pb deletion in exon 9 among all the specimens of DNA treated. The mutation p.Asn 370 Ser is associated with Gaucher disease type 1 correlated of a total absence of neurological involvements.
Annales de biologie clinique 65(6):647-52. · 0.34 Impact Factor
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ABSTRACT: cardiovascular diseases constitute the most hefty complications in diabetes. Absolute cardiovascular risk (ACVR) can be estimated by many equations that are continuously criticised. The aim is, in one hand, to evaluate ACVR in type 2 diabetes and, in the other hand, is to establish correlations between ACVR and oxidant-antioxidant status.
183 type 2 diabetes and 200 controls were admitted. ACVR assessment was calculated following Laurier equation. Oxidant status was evaluated by the measure of homocysteine, hydrogen peroxide (H2O2) and LDL thiobarbituric reactive oxygen substances (LDL-TBARS). Antioxidant status was evaluated by the measure of superoxide dismutase (SOD) activity, glutathione peroxidase (GPx), total antioxidant status (TAS) vitamins A, E and zinc. Glycated haemoglobin (HbA1c) and microalbuminuria were assessed by turbidimetry.
ninety percent of diabetes belonged to moderate and high ACVR groups. In diabetic men ACVR was doubled each elevation of 4 micromol/L homocysteine, of 50 micromol/L of H2O2 and of 20 mg/L of microalbuminuria. High risk ACVR group showed the lowest SOD activity, zincemia and the highest HbA1c. No significant difference was found in LDL-TBARS, TAS, GPx, vitamins A, E between the different ACVR groups. The strong relation between homocysteine and ACVR confirms homocysteine atherosclerotic role. Homocysteine auto-oxidation produces H2O2 leading to LDL-TBARS increase. Microalbuminuria-ACVR association verifies its vasculopathy predictor role. Urinary albumin leakage may be consequent to the hyperhomocysteinemia found in diabetes.
homocysteine introduction in ACVR assessment equation may ameliorate this estimation.
Annales de biologie clinique 66(2):151-6. · 0.34 Impact Factor
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ABSTRACT: At present, the application of combined methods in molecular biology allows us to carry out the prenatal diagnosis in a more rapid and less onerous manner especially when the family presents an index case. In this study, we have analyzed a family with one case of intermediate beta-thalassemia. First, we have used the denaturing gradient gel electrophoresis (DGGE). Then, we have identified the mutations by the refractory mutation system technique (ARMS PCR) using specific primers for the most frequent mutations in the Tunisian population (codon 39 (C --> T) and IVS-I-2 (T--> G) for beta0 thalassemias and IVS-I-110 (G --> A) for beta+ thalassemias). The analyzed family has shown the IVS-I-110 (G --> A) mutation in the heterozygous state in the mother and the index case. Subsequently, sequencing in the gene revealed a frameshift 8 (-AA) mutation in the father and his daughter. This patient is thus a compound heterozygote Codon 8 (-AA)/IVS-I-110. DGGE and ARMS PCR analysis of foetal DNA extracted from trophoblast culture didn't show any of the two mutations found in the family.
Annales de biologie clinique 61(2):229-33. · 0.34 Impact Factor
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S Khedhiri,
L Chkioua, S Ferchichi,
H Bouzidi,
A Haj Khelil,
R Ben Mansour,
A Kassab,
S M'dallah,
M Chaabouni,
T Jrad,
J Ben Chibani,
A Miled,
S Laradi
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ABSTRACT: Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and the progressive lysosomal accumulation of keratane sulfate. Clinically, the MPS IV A differs from the other MPS by the localisation of the keratane sulfate in skelet and in eyes associated to the conservation of a normal intelligence. To date, the characterization and purification of the GALNS gene made a research for pathogenic mutations in patients with MPS IV A easier. These mutations are responsible of severe, intermediate or mild phenotype. The aim for this work was the research of clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients who were offsprings of consanguineous mating. Enzymatic and urinary diagnostics suggested a MPS IV A phenotype. A novel homozygous mutation IVS1+1G-A was identified by direct sequencing in the GALNS gene of the two patients. Identification of GALNS mutations provide genotype/phenotype correlations and permit the precision of anomalies responsible of Morquio A phenotype in concerned families.
Annales de biologie clinique 65(1):59-63. · 0.34 Impact Factor
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S Laradi,
K Monastiri, S Ferchichi,
N Nabli,
P Aouini Rea,
H Ben Limam,
R Ben Mansour,
R Bousoffara,
M Yacoub,
R Froissart,
A Miled,
I Maire
Annales de biologie clinique 59(1):100-4. · 0.34 Impact Factor
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A. Dandana, S. Ferchichi,
S. Ben Khelifa,
Z. Jaidane,
K. Monastiri,
L. Chkioua,
I. Maire,
R. Froissart,
V. Bonnet,
S. Laradi,
A. Miled
[show abstract]
[hide abstract]
ABSTRACT: Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The application of combined methods in molecular biology allowed us to analyse the p.Asn 370 Ser mutation. The affected individual activity is very low. First, we have to used the enzymatic digestion method. Then, we have to identified the mutation by the refractory mutation system technique using specific primers for the p.Asn 370 Ser mutation. These analyses are supplemented by the direct sequencing in order to seek and confirm this mutation. Finally, the absence of the 55 pb deletion in exon 9 among corroborated the presence of the homozygous genotype of this p.Asn 370 Ser in the patient DNA.
Pathologie Biologie.
