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Biomedical subjects

A Miled

Publications and source records attributed to A Miled.

13 recordsLinked to original sources
PubMed2006

Modulation of adipokines and cytokines in gestational diabetes and macrosomia.

CONTEXT/OBJECTIVE: Not much is known about the implication of adipokines and different cytokines in gestational diabetes mellitus (GDM) and macrosomia. The purpose of this study was to assess the profile of these hormones and cytokines in macrosomic babies, born to gestational diabetic women. DESIGN/SUBJECTS: A total of 59 women (age, 19-42 yr) suffering from GDM with their macrosomic babies (4.35 +/- 0.06 kg) and 60 healthy age-matched pregnant women and their newborns (3.22 +/- 0.08 kg) were selected. METHODS: Serum adipokines (adiponectin and leptin) were quantified using an obesity-related multiple ELISA microarray kit. The concentrations of serum cytokines were determined by ELISA. RESULTS: Serum adiponectin levels were decreased, whereas the concentrations of leptin, inflammatory cytokines, such as IL-6 and TNF-alpha, were significantly increased in gestational diabetic mothers compared with control women. The levels of these adipocytokines were diminished in macrosomic babies in comparison with their age-matched control newborns. Serum concentrations of T helper type 1 (Th1) cytokines (IL-2 and interferon-gamma) were decreased, whereas IL-10 levels were significantly enhanced in gestational diabetic mothers compared with control women. Macrosomic children exhibited high levels of Th1 cytokines and low levels of IL-10 compared with control infants. Serum IL-4 levels were not altered between gestational diabetic mothers and control mothers or the macrosomic babies and newborn control babies. CONCLUSIONS: GDM is linked to the down-regulation of adiponectin along with Th1 cytokines and up-regulation of leptin and inflammatory cytokines. Macrosomia was associated with the up-regulation of Th1 cytokines and the down-regulation of the obesity-related agents (IL-6 and TNF-alpha, leptin, and adiponectin).

Adiponectin↗
PubMed2006

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

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.

Adolescent↗
PubMed2005

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

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.

Alleles↗
PubMed1979

[Monoclonal myelomatous IgA with antilipoprotein antibody activity of Ra specificity (author's transl)].

Investigations performed in a patient with myeloma, hyperlipidemia, and xanthomatosis demonstrated the antilipoprotein activity of the monoclonal IgA directed against an antigenic site--called Ra.--different from those previously described. A complex IgA beta-lipoprotein has been firstly characterized. After isolation and purification of the IgA, it has been shown that the association between IgA and lipoprotein was immunologically mediated. The antibody is an IgA lambda bound via its Fab portion and in fixed combining ratio to an antigenic determinant shared only by LDL and VLDL of humans and some other mammalians to the exclusion of any other serum proteins. The results obtained with passive hemagglutination and inhibition of hemagglutination suggest that the antigenic site Ra. is not located on apoprotein B (major proteic moiety of LDL and VLDL), since the antigenic determinants of apolipoproteins are different in humans and in animals and since IgA Ra. fails to react with apolipoprotein B obtained by delipidation of LDL. On the other hand, the lack of reaction between IgA Ra. and HDL suggests that the antigenic determinant is not only present on the lipid hapten such as in the case of PG and AS determinants which are located on VLDL, LDL, and HDL from humans and animals. So the antigenic determinant revealed by IgA Ra. seems to be different from those previously described.

Antibodies, Neoplasm↗
PubMedDate not supplied

[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia].

Beta-thalassemia, by its high frequency and its heterogeneity, constitutes a real problem of health in Tunisia. Prenatal diagnosis by DNA analysis represents the only reality for couples at risk. The denaturant gradient (urea and formamide) on polyacrylamide gel electrophoresis has been performed in our laboratory, using psoralen as chemical clamps. This method is simple, reliable, safe, rapid, without radioactivity and has a reasonable cost (chemical clamps). Even if it needs an informatic modelization in other laboratories, this method seems to be adapted to our economic and work conditions and to the molecular heterogeneity of the Tunisian beta-thalassemia. We present the results of an epidemiological molecular study on 75 patients with beta-thalassemia and the results of ten prenatal diagnosis. The molecular lesions codon 39 (C-T) and IVS1 nt2 (T-G) are the most frequent in our study. This technical approach provides genetic counselling for at risk families by offering prenatal diagnosis (reducing as possible the cost and the delay of the result) after prealable family study and identification of the mutation(s).

Codon↗
PubMedDate not supplied

[Arachidonate to saturated fatty acid ratio of circulating sterides and phospholipids: can it be risk marker of coronary stenosis? A Tunisian study].

The prevention and early diagnosis of cardiovascular diseases is a public health priority in Tunisia and actions are undertaken to evaluate biologic marquers in at risk populations. Concentrations of fatty acids in serum phospholipids and sterides have been measured using thin layer chromatography and gaz chromatography of transmethyled derivatives. The study concerned 98 coronarographed patients, presenting (n = 72) or not coronary artery disease (n = 26). The results have been compared to those of a reference population (n = 43) without any cardiac pathology. The mean concentrations of most of sterides fatty acids in coronarographed patients were higher than in controls, except for arachidonic acid which was slightly lower (68 +/- 34 mg/L versus 77 +/- 19,6 mg/L in controls). Considering concentrations of sterides fatty acids in the two subgroups of patients, coronary artery disease was associated with an increase of all these fatty acids, which was statistically significant for palmitate, linoleate and linolenate. Measurements of fatty acids in phospholipids showed a reduction of arachidonic acid in coronarographed patients (76 +/- 36,7 mg/L versus 135 +/- 49,3 mg/L in controls), but without correlation with the severity of the stenosis.

Adult↗
PubMedDate not supplied

[Diagnostic strategy of beta-thalassemic mutation in a Tunisian family, application in prenatal diagnosis].

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.

Adult↗
PubMedDate not supplied

[Cholesterol ester fatty acid composition in Tunisian type 2 diabetics with and without cardiovascular complications].

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Cardiovascular Diseases↗
PubMedDate not supplied

[Report of a case of Lyell syndrome].

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.

Adult↗