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H Chaabouni

Publications and source records attributed to H Chaabouni.

At least 19 recordsLinked to original sources
PubMed2003

[Diastematomyelia: antenatal diagnosis with successful outcome, two cases].

To discuss, through a review of the literature, clinical signification and antenatal and postnatal management of diastematomyelia. We present two cases highlighting the clinical presentation and discuss management options. The first case was diagnosed in a 32-year-old primagravida female physician. The conssanguinous couple had a history of primary hypofertility. Antenatal magnetic resonance imaging revealed the presence of a sagittal spinal spur separating two asymmetrical hemi cords. Pregnancy was not interrupted due to the lack of factors of poor prognosis. The infant was delivered at term and outcome has been favorable at 18 months follow-up. Ultrasonography performed at 22 weeks gestation provided the diagnosis in the second case. The mother was a 30-year-old primagravida anesthesist who had been addressed for suspected spina bifida. The consanguinous couple had a history of male hypoferility. The ultrasound scan revealed an echogenic spinal spur and integrity of the skin. Pregnancy was not interrupted due to the lack of factors of poor prognosis. The infant was delivered at term and outcome has been favorable at 18 months follow-up. Diastematomyelia is a rare malformation which can be diagnosed antenatally. Careful ultrasonography can distinguish diastematomyelia from myelomeningocele. Antenatal assessment is essential to identify forms with good prognosis because the neonatal outcome of isolated diastematomyelia is generally good, even if surgical repair is required.

Adult↗
PubMed2001

[Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population].

Susceptibility to type 1 diabetes mellitus is strongly associated with particular HLA class II alleles. However, non HLA genetic factors are likely to be required for the development of disease. The candidate genes include the cytotoxic T lymphocyte associated 4 (CTLA-4) located on chromosome 2q33 and designated (IDDM12), which encodes a cell surface negative signal T molecule providing for activation. We investigated CTLA-4 exon 1 dimorphism in 74 type 1 patients and a control group of 48 healthy subjects from Tunisia using two methods PCR (polymerase chain reaction) allele specific and polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). The CTLA-4/G allele was found on 68.9% in type 1 patients as compared to 51.02% in controls (p = 0.002), mostly in homozygous from 43.24% versus 22.45% (p = 0.0058). This results indicate that CTLA-4/G allele was significantly associated with predisposition to type 1 diabetes in our group from Tunisian population.

Abatacept↗
PubMed2001

[Diagnosis of holoprosencephalia. Report of 17 cases].

OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.

Adult↗
PubMed2000

[Pregnancy-related liver diseases].

The liver diseases of pregnancy are specific liver disorders during the pregnancy. The principal hepatic anomaly during hyperemesis gravidarum is a reversible augmentation of liver enzymes under reanimation. Intrahepatic cholestasis of pregnancy occur during the last 2 trimesters of pregnancy, manifested usually by pruritus preceeding a jaundice. The liver enzymes and the serum biliary acids are augmented. The acute fatty liver of pregnancy occur during the last trimester of pregnancy leading to early interruption of pregnancy which would help to diminish the elevated level of maternal and fetal mortality. The HELLP syndrome usually observed during the toxemia of pregnancy, associate an hemolysis elevation of liver enzymes and low platelets.

Adult↗
PubMed1999

Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

Nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. A large genetic interval of assignment obtained on individual families by linkage analysis, genetic, heterogeneity, and phenotypic variability usually are major obstacles to fine-map and identify the related disease genes. Here we report on a large Tunisian family (MRX54) with an MRX condition. X-linked recessive inheritance is strongly suggested by the segregation of MR through seven unaffected carrier females to 14 affected males in two generations. Two-point linkage analysis demonstrated significant linkage between the disorder and several markers in Xp21.3-22.1 (maximum LOD score Zmax = 3.56, recombination fraction 0 = 0 at DXS1202), which was confirmed by multipoint linkage analyses. Recombinant events observed with the flanking markers DXS989 and DXS1218 delineate a refined locus of approximately 2.7 cM in accordance with the physical distance between these two markers. The small interval of assignment observed in this family overlaps not only with nine large MRX loci previously reported in Xp21.3-22.1 but also with two inherited microdeletions in Xp21.3-22.1 involved in nonspecific MR. Although the involvement of several genes located in the Xp21.3-22.1 region cannot be ruled out, data reported in this study could be used as a starting point for the search of such gene(s).

Adolescent↗
PubMed1995

Polymorphism at VNTR locus 3 to the apolipoprotein B gene in a Tunisian population: difference from other ethnic groups.

The Hypervariable region (HVR) detected at the 3' end of the apolipoprotein B (Apo B) locus has been the subject of numerous studies. As for many VNTR (variable number of tandem repeat), this locus is highly polymorphic and until now about 20 alleles have been described. The genotype distribution in all populations follows the Hardy-Weinberg predictions. A bimodal pattern of allele frequency distribution is apparent in all Caucasoid populations. We have analyzed the frequencies of different alleles in a Tunisian population (123 individuals) by the polymerase chain reaction technique and compared our results to those obtained in several ethnic groups. It appears that the distributions of the allele frequencies are very different: for Caucasoid populations, there are two peaks of frequencies for alleles with 36 and 48 repeats, but alleles of intermediate lengths are more frequent. Hixson et al. [(1993) Hum Genet 91:475-479] have shown a similar difference between black and white American populations. We found the same results in a black African group. Some of the repeat units of this HVR contain a Ssp I restriction site and digestion of the PCR products by this enzyme gives different patterns on gradient acrylamide gel [Desmarais et al., 1993, Nucleic Acids Res 21:2179-2184.] The DNA of African individuals (42) has been analyzed to discover the origin of this new allele. Preliminary results indicate that these particular alleles probably arose by introgression from the African population into the Tunisian one.

Alleles↗