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H Chaabouni

Publications and source records attributed to H Chaabouni.

33 records · Page 2Linked to original sources
PubMed1986

[Genetic study of spinocerebellar hereditary degenerations in Tunisia. Role of consanguinity in their occurrence].

The genetic analysis of 101 genealogical trees of families with spinocerebellar heredo-degeneration enabled the authors to specify the transmission inheritance for each clinical type. Autosomic recessive transmission has been observed for Friedreich's ataxia (68 out of 69 families), Pierre-Marie's heredo-ataxia (15 families) and familial spastic paraplegia (2 families). A dominant mode of transmission has been observed in 13 families affected by familial spastic paraplegia (Strumpell-Lorrain) and in only one family with Friedreich's ataxia (an intermediate or incomplete form). It has also been observed that the consanguinity rate among this group of families is very high compared with that of the general tunisian population (25%). Marriage between cousins occurs in 75% of the cases of Friedreich's ataxia, in 78% of the cases of Pierre-Marie's heredo-ataxia and in only 61% of familial spastic paraplegia of Strumpell-Lorrain. The authors have come to the conclusion that the recessive autosomic transmission of the spino-cerebellar heredo-degenerative diseases are closely related to a high consanguinity rate.

Cerebellar Diseases↗
PubMed1986

[Genetic study of eight cases of spondylo-epiphyseal dysplasia tarda and its autosomal recessive transmission].

Spondylo-epiphyseal dysplasia tarda is an hereditary disease of bone first described by Maroteaux in 1957. The disease affects only boys, then is transmitted on X-linked recessive pattern. The authors describe two tunisians families with 8 patients presenting clinical and radiologic symptoms resembling spondylo-epiphyseal dysplasia tarda but affecting both sexes. Autosomal recessive inheritance is probable in these families. Conclusion is that genetic heterogeneity of the disease must be precise.

Adult↗
PubMed1984

[Glomerulonephritis and blindness. Apropos of 3 cases].

Blindness is a rare complication of acute glomerulonephritis. During three years (1980-82) 32 cases of acute glomerulonephritis are admitted in a Pediatric Department. Five children had neurologic complications among whom three developed complete, bilateral and transient blindness. In all cases blindness is associated with hypertension and intracranial pressure. The mechanism suggested in this kind of amaurosis is cerebral oedema, and the adequate treatment of this oedema permit a complete recovery of the vision.

Acute Disease↗
PubMedDate not supplied

Prenatal diagnosis of chromosome disorders in Tunisian population.

Cytogenetic prenatal diagnosis (PND) is under national health program in most developed countries, while it concerns a small part of population at risk in developing countries. Finance is common reason of absence of PND development, but socio-cultural believes play an important role in Arab Muslim countries. In this paper we report results of 3110 fetal karyotypes carried out in a Tunisian population, by cultured amniocytes analysis. It is the largest report in a Muslim Arab country in our Knowledge. Abnormal karyotypes rate was 4.18% classified in two groups: bad prognosis (3.05%) and good prognosis (1.13%). Common amniocentesis indication was maternal age. The highest predictive value was observed in balanced karyotype and fetal ultrasound findings indications. Maternal serum markers were not commonly used for trisomy 21 screening. Pregnancy termination that is permitted by legal and religious authorities was accepted by 94,74% parents. Information about PND outcomes was given by genetic counselling prior to fetal sampling, pregnancy interruption was discussed with parents at cytogenetic result announcement. The authors conclude that in order to prevent mental and physical handicap related to cytogenetic disorders we have to promote PND by education for population, genetic counselling and fetal ultrasound screening; all three methods available in Tunisia.

Abortion, Induced↗
PubMedDate not supplied

[Intestinal metaplasia at the gastroesophageal junction - epidemiologic and histologic aspects. Report of 164 cases].

Adenocarcinoma of the gastric cardia is increasing in incidence. The purpose of this study was to determine whether intestinal metaplasia of the esophagogastric and having a malignant potential junction can be considered as an ultra-short segment Barrett's esophagus. To study the epidemiologic and histological features of the intestinal metaplasia of esophagogastric junction two groups of patients were compared for the prevalence of this condition. Group 1 included 82 patients with gastroesophageal reflux symptoms et group 2 consisted of 82 healthy individuals. Both groups had two biopsy specimens taken from the esophagogastric junction. Histological evidence of intestinal metaplasia was defined as specialized columnar epithelium containing goblet cells staining with alcian blue at pH 2.5. Intestinal metaplasia of the esophagogastric junction was present in 12 patients in group 1 and 9 individuals in group 2. The global prevalence of this condition was 12.8% and there was not a statistically significant difference in the prevalence of this condition between the two groups. A significant difference could not be found when sex was considered. There was a significant association between this condition and older age (p = 0.01). Intestinal metaplasia of the esophagogastric junction and Barrett's esophagus do not have the same epidemiologic features. Therefore, we suggest that screening biopsy specimens of the esophagogastric junction be limited to study protocols at this time.

Adolescent↗
PubMedDate not supplied

[Antenatal diagnosis and contribution of fetopathologic examination in the management of omphalocele].

The omphalocele is an average coelosomie, frequency of which is estimated at 1/5000 births. We confront diagnosis antenatal with the exam foetopathologic in purpose of 41 cases of omphalocele brought together over a period going from January 1, 1991 till December, 2000 in the unity of foetopathologie from the CMNT. The frequency of omphaloceles is 4.88% of the children malformed and of 1.64% of the set (group) of the performed an autopsy children. An association malformative was found in 85.4% of cases and a karyotype typical aberration trisomie 13.18 and 21 was identified in 17% of cases. The preview of the children bearers of this deformation is especially bound (connected) to the existence and to the gravity of associated abnormalities. The omphalocele required a multidisciplinary making coverage intervernir obstetriciens, néonatologistes, surgeons pediatre and foetopathologistes.

Abnormalities, Multiple↗
PubMedDate not supplied

[Prevalence of celiac disease serological markers in Tunisian type 1 diabetic adults].

OBJECTIVE: to evaluate the prevalence of celiac serological markers; anti-transglutaminase (ATGt), anti-endomysium (AE), anti-gliadin (AGD) and anti-reticulin (AR) antibodies; in type 1 diabetic Tunisian adults. SUBJECTS AND METHODS: 261 type 1 diabetic patients aged from 16 to 60 years were enrolled in this prospective study. IgG and IgA transglutaminase and gliadin were measured with ELISA. IgA AE were tested by indirect immunofluorescence using 2 substrates; monkey oesophagus and human umbilical cord. AR were detected by indirect immunofluorescence on rat liver, kidney and stomach. Sera IgA level was measured by turbidimetry. RESULTS: 83/261 of diabetics were positive for at least one antibody, 5.7% had ATGt-A, 3.4% AE on monkey esophagus, 3.1% AE on umbilical cordon, 18% AGD-A, 19.5% AGD-G and 3.1% AR. There was an excellent concordance between AE and ATGt (r = 0.9). Out of the 261 diabetics, 5 had an IgA deficiency and one of them has IgG AE and ATGt. CONCLUSION: serological markers of celiac disease seem to be frequent in diabetics. Nevertheless, diagnosis must be confirmed by histological studies which allow us to know the real prevalence of celiac disease in diabetic adults.

Adolescent↗