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S Masmoudi

Publications and source records attributed to S Masmoudi.

At least 19 recordsLinked to original sources
PubMed2006

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.

Chromosome Mapping↗
PubMed2006

[Massive hemoptysis: experience of a surgical unit].

Massive hemoptysis is a clinical entity characterized by its unpredictable and potential lethal course. We studied retrospectively the observations of 25 patients hospitalized in our surgical unit. We collected all the demographic, clinical and surgical data. A male predominance with a sex-ratio of 2,1 was noted. The average age was 45 years, with extremes of 17 and 75. The dominant cause was bronchiectasis. Twenty patients were operated on. The surgery consisted of a pulmonary resection in 9 cases (45%), an atypical lung resection in 4 cases (20%), a resection of an aspergilloma in 2 cases (10%), a kystectomy of hydatic cyst in 4 cases (20%) and one arterial ligature (5%). Five patients (25%) had emergent surgery, and 15 (75%) delayed surgery. Hospital mortality was 20% in the first group and 6.66% in the second. No recurrence of bleeding was observed after an average follow-up of 7 months. Surgery remains a therapy of choice for massive hemopysis. It must as far as possible be avoided during active bleeding.

Adolescent↗
PubMed2004

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detected linkage with markers corresponding to the DFNB13 locus in both families. Haplotype analyses assigned this locus to a 3.2-Mb region between markers D7S2468 and D7S2473. In order to refine this interval, we identified nine dinucleotide repeats in the 7q34 region. To investigate the polymorphism of these repeats, a population study of 74 unrelated individuals from different regions of Tunisia was carried out. Our results demonstrated that eight of the nine repeats are polymorphic. The average number of alleles at these informative loci was 9.12 with a polymorphism information content of 0.71. Little evidence for linkage disequilibrium between some marker pairs was found. Haplotype analysis using these microsatellites refined the DFNB13 interval to an area of 2.2 Mb between the D7S5377 and D7S2473. In order to identify the DFNB13 gene, we sequenced and eliminated three candidate genes. Other known and predicted genes are being screened for deafness-causing mutations.

Case-Control Studies↗
PubMed2004

The effects of drainage with a Redon versus a conventional drain on postoperative pain and blood loss after valve replacements.

AIM: The aim of this study was to assess the influence of drainage with a Redon drain versus a conventional drain on postoperative pain and blood loss after valve replacements. METHODS: After approval by the local Ethics Committee and written informed consent, 30 patients, 20-60 years of age, scheduled for first elective valve replacement were included. After standardized anaesthetic regimens, cardiopulmonary bypass and coagulation therapy procedures and at the end of the operation, the patients were randomly assigned to 1 of 2 groups: (GI, n=15): drainage with 4 Redon drains; (GII, n=15): drainage with 2 conventional drains. Postoperative pain intensity at rest (VAS-R), during coughing and mobilization (VAS-M) in bed was independently evaluated using a visual analogue scale (VAS 100 mm) at 6 hourly intervals until 48 h after admission to the ICU (Ho). All patients received 2 g of paracetamol after obtaining the VAS score (8 g/24 h). No other analgesic agents were used. All patients were submitted to 2D echocardiography to verify the presence of pericardial effusion 24 h after surgery. Values are expressed as means. Pearson's chi squared and ANOVA (for repeated measurements) were used for statistical analysis. P<0.05 was considered significant. RESULTS: There was no statistically significant difference in the mean postoperative VAS-R and VAS-M, and in the mean postoperative total blood drainage 822.3 ml in GI, versus 704.3 ml in GII. Non pericardial effusion was found, and we did not see side-effects in any of the patients. CONCLUSIONS: We have shown that drainage with a Redon drains versus a conventional drain does not influence postoperative pain intensity and blood loss after valve replacements.

Adult↗
PubMed2003

[Traumatic lung herniation in a child].

Traumatic lung hernia of the chest wall is unusual in pediatric patients. Most acquired traumatic lung hernia occur at the site of injury or on the anterior parasternal chest wall because the external intercostal muscle is absent from the cost cartilaginous junction to the sternum. A five-year-old girl presented with such a hernia after severe blunt trauma to her right torso. A chest radiograph, immediately after the injury and a CT scan showed lung herniation. She was treated surgically by direct repair of the chest wall defect. The recovery proceeded without complications. With early identification and appropriate surgical or video-assisted repair, symptomatic pulmonary hernia can have an excellent prognosis and very low probability of recurrence.

Child, Preschool↗
PubMed2002

[Clinical case of the month. Iliac artery endofibrosis in a soccer player].

Arterial endofibrosis is a rare disease, usually affecting the external iliac artery in highly trained athletes. We report a case of external iliac endofibrosis in 42-year-old top level athlete. Clinical consequences were a high intensity exercise related sensation of swollen thigh, with normal clinical examination. Ultra sound investigation showed fibrotic thickening of the left external iliac artery. Angiography confirmed stenosis of the left external iliac artery. The patient was treated surgically, he underwent remodeling of his left external iliac artery with venous angioplasty. No complications occurred in the post operative course, and the patient return to training after three months.

Adult↗
PubMed2001

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non-syndromic recessive deafness loci located on human chromosome 21q22.3, DFNB8 and DFNB10. We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness. The audiometric tests showed a loss of hearing greater than 70 dB, in all affected individuals of both families. Mutation screening of TMPRSS3 revealed two novel missense mutations, W251C and P404L, altering highly conserved amino acids of the serine protease domain. Both mutations were not found in 200 control Tunisian chromosomes. The detection of naturally-occurring TMPRSS3 missense mutations in deafness families identifies functionally important amino acids. Comparative protein modeling of the TMPRSS3 protease domain predicted that W251C might lead to a structural rearrangement affecting the active site H257 and that P404L might alter the geometry of the active site loop and therefore affect the serine protease activity.

Amino Acid Sequence↗
PubMed2001

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of deafness have been reported in humans and 24 causative genes have been identified (see also http://www.uia.ac.be/dnalab/hhh). We report a mouse transcript, isolated by a candidate deafness gene approach, that is expressed almost exclusively in the inner ear. Genomic analysis shows that the human ortholog STRC (so called owing to the name we have given its protein-stereocilin), which is located on chromosome 15q15, contains 29 exons encompassing approximately 19 kb. STRC is tandemly duplicated, with the coding sequence of the second copy interrupted by a stop codon in exon 20. We have identified two frameshift mutations and a large deletion in the copy containing 29 coding exons in two families affected by autosomal recessive non-syndromal sensorineural deafness linked to the DFNB16 locus. Stereocilin is made up of 1,809 amino acids, and contains a putative signal petide and several hydrophobic segments. Using immunohistolabeling, we demonstrate that, in the mouse inner ear, stereocilin is expressed only in the sensory hair cells and is associated with the stereocilia, the stiff microvilli forming the structure for mechanoreception of sound stimulation.

Amino Acid Sequence↗
PubMed2000

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown to be caused by mutations in the PDS gene, which encodes an anion transporter called pendrin. Molecular analysis of the PDS gene was performed in two consanguineous large families from Southern Tunisia comprising a total of 23 individuals affected with profound congenital deafness; the same missense mutation, L445W, was identified in all affected individuals. A widened vestibular aqueduct was found in all patients who underwent computed tomography (CT) scan exploration of the inner ear. In contrast, goiter was present in only 11 affected individuals, who interestingly had a normal result of the perchlorate discharge test whenever performed. The present results question the sensitivity of the perchlorate test for the diagnosis of Pendred syndrome and support the use of a molecular analysis of the PDS gene in the assessment of individuals with severe to profound congenital hearing loss associated with inner ear morphological anomaly even in the absence of a thyroid goiter.

Adolescent↗
PubMed2000

[Thoracic aortic aneurysm complicating pseudo-coarctation].

INTRODUCTION: The aneurysm of the descending aorta complicating a pseudocoarctation, itself due to a congenital elongation with kinking of the aorta is a rare entity. OBSERVATION: We report a case of aortic aneurysm discovered in a 72 years old woman without notable antecedents, which was referred for recurrent bronchitis. The X-ray showed a calcified opacity of the upper mediastinum, 5 cm of large. A thoracic CT-scan evoked the presence of a circulating sacciform aneurysm with calcified walls, developing on the final part of the aortic arch, which was with abnormally ascending way going up to the cervico-thoracic orifice and carrying out an aspect of aortic kinking. The assessment was complemented by a RMI as well as an aortic opacification. A thoracic scintigraphy showed an hypoperfusion of the left lung. The remainder of the cardiac assessment was normal. The patient was operated under femoro-femoral extracorporeal circulation through a left posterolateral thoracotomy of the 4th intercostal space. The examination showed a 7 cm diameter calcified aneurysm of the descending thoracic aorta complicating a tight stenosis in connection with an elongation and a kinking. The upper section of the aorta was shifted towards the pleural dome. The aortic section above aneurism was of normal size whereas the lower section was dilated. The aneurism was excised and a prosthetic graft was carried out. The surgery follow-up was marked by an hemodynamic stability, without neurological deficit. A ventilatory assistance was necessary during 5 days. Currently with 8 months follow-up, the patient goes well. COMMENTS: A prosthetic replacement in front of this type of aneurism is legitimate given the risk of the occurrence of complications secondary to the pseudocoarctation (arterial hypertension, aortic insufficiency) or to the aneurism itself, dissection or compression of vicinity (pulmonary artery).

Aged↗
PubMed1996

[Therapeutic attitude in postcatheterization symptomatic stenosis of the subclavian vein].

We report 4 cases of subclavian vein stenosis after hemodialysis occurring in 4 women with a mean age of 36 years. The duration of subclavian catheterization was 1 to 11 months. The diagnosis was established by angiography or phlebography. The treatment was always surgical: axillo-internal jugular bypass: 1 case; deviation of the internal jugular vein: 1 case; basilo-internal jugular bypass: 1 case; axillo-axillary bypass: 1 case.

Adult↗
PubMed1996

[Transposition of the external jugular vein onto the subclavian vein in the treatment of symptomatic stenosis of the right subclavian vein].

Subclavian vein stenosis is a classical complication of longterm venous catheterization in hemodialysis. We report the case of a 74 years-old woman, operated for multiple arteriovenous fistulae, admitted to hospital with upper-limb oedema. Venous angiography demonstrated subclavian stenosis. Surgical treatment was performed by transposition of the external jugular vein onto the subclavian vein with a good result.

Aged↗
PubMed1994

Diagnosis of human hydatidosis: comparison between imagery and six serologic techniques.

Echography and/or chest radiograph in association with six serologic (immunologic) methods were tested for their ability to diagnose human hydatidosis. The immunologic techniques used were latex agglutination, counter immunoelectrophoresis, enzyme-linked immunosorbent assay (ELISA) with whole hydatid fluid and with antigen 5, a thermobabile lipoprotein that elicits the arc 5 precipitin line in immunoelectrophoresis. In this report, the results of examinations of 273 patients are presented. Of these, 243 cases were surgically proven to have hydatidosis, whereas 30 of the 273 that were strongly suspected of having hydatid cysts by radiology were shown to have other pathologies. The ELISA was more sensitive than the other methods, with 204 of 243 sera shown to be positive. The remaining 39 sera that gave false-negative results were tested using two recently developed methods, enzyme-linked immunoelectrodiffusion assay (ELIEDA) and immunoblotting (electrophoretic migration of hydatid fluid antigens under denaturing but nonreducing conditions, blotting, and immunoenzymatic assay). Immunoblotting, using our experimental conditions, had a greater sensitivity than the ELIEDA with this technique. Four of 37 sera showed one to three bands of 65, 12, and 8 kD. The sensitivity of the ELISA did not increase with either the size or type of cyst. Comparison of radiology with serology confirmed a good correlation between the two methods. Nevertheless, serology is more specific but less sensitive than imagery.

Adolescent↗