[Management of isolated iliac aneurysms: A Tunisian center experience]. / Traitement des anévrismes iliaques isolés : expérience d'un centre tunisien.

Isolated aneurysms of the iliac arteries are rare. The diagnoses of these aneurysms become easier with non-invasive radiologic investigations. The development of endovascular treatment is a recent alternative to surgical treatment. We report our experience in the management of 8 cases of isolated iliac aneurysms in the department of cardiovascular and thoracic surgery of the Habib Bourguiba Hospital of Sfax.

[Post-traumatic carotido-jugular fistula: Case report and review of the literature]. / Fistule carotido-jugulaire post-traumatique : à propos d'un cas opéré.

The neck, being not protected by skeleton, is vulnerable to external trauma and injury which can involve blood vessels, muscles, nerves, and trachea. Carotid injuries can be potentially life-threatening by hemorrhage and stroke. We present a case of a 26-year-old manual worker who presented a neck injury caused by a metallic projectile. The injury involved the right common carotid artery with an internal jugular vein fistula, and tracheal damage. The patient was managed with surgical repair of the tracheal lesion, reconstruction of the carotid section using a PTFE graft bypass, and ligation of the internal jugular vein. In the immediate postoperative period, the patient presented with no neurological deficits, but he did develop a pulmonary infection that resolved with antibiotic therapy. The follow-up is now 3months. The patient is doing well without any neurological disorder.

[Surgical and endoluminal management of the inflammatory aortitis: A Tunisian center experience]. / Traitement chirurgical et endovasculaire des atteintes aortiques inflammatoires : expérience d'un centre tunisien.

Non-infectious aortitis is usually due to giant-cell arteritis, Takayasu disease or Behçet disease. The main aortic lesions are stenoses, occlusions and aneurysms in the Takayasu disease and aneurysms in the Behçet disease and giant-cell arteritis. Treatment is based on corticosteroid therapy and surgery. Endoluminal management is now the rule. We report a retrospective descriptive study of 10 patients who underwent surgical or endoluminal management of inflammatory lesions of the aorta between January 2000 and December 2015. There were 4 cases of Takayasu disease and 6 cases of Behçet disease. The aortic lesions were aneurysmal in all of the patients with Behçet disease. In the patients with Takayasu disease, aortic occlusions predominated, associated with other arterial lesions. Four patients with Behçet disease were managed surgically, and 2 patients underwent endovascular repair. All of the patients with Takayasu disease underwent surgery. Two patients died in the postoperative period, and two patients died during long-term follow-up. Systematic screening, as well as regular monitoring of the entire aorta during the follow-up, is necessary due to the frequency of aortic aneurysms.

[Popliteal artery pseudoaneurysm caused by femur exostosis: A pediatric case]. / Faux anévrisme de l'artère poplitée secondaire à une exostose fémorale chez un enfant : à propos d'un cas opéré.

Exostoses, or osteochondromas are benign bone tumors that have developed on the bone surface. These benign tumors can be asymptomatic or lead to complications, for instance arterial pseudoaneurysm. We report a case of a pseudoaneurysm of the popliteal artery treated surgically in a 17-year-old girl with a solitary exostosis of the right femur. Surgery was closure of the pseudoaneurysm and a bypass using a venous graft.

[Prognostic factors in metastatic colorectal cancer in Tunisia: A retrospective study of 130 patients]. / Facteurs pronostiques des cancers colorectaux métastatiues (CCRM) en Tunisie. Etude retrospective à propos de 130 patients.

BACKGROUND: The survival of patients with a metastatic colon cancer has improved with palliative chemotherapy, targeted therapies and surgery. Several prognostic factors influencing the survival of these patients were identified in the literature represented mainly by clinical factors: general condition, number and site of metastases, rate of white blood cells, initial carcinoembryonic antigen (CEA) rate, hemoglobin level, and therapeutic factors mainly represented by resection of metastases. AIM: To evaluate within a Tunisian retrospective study the significant prognostic factors on survival of metastatic colorectal cancer (MCRC). METHODS: We collected retrospectively 130 patients with MCRC treated in Sfax from january 2000 to December 2007. Uni and multivariate analysis were performed according to cox model for the following factors : Age or > 40 years, gender, synchronous vs metachronous metastases, disease-free survival (DFI) 1 > 1year, tumor site(colon vs rectum), performance status or PS ( 0-1or 2-3), white blood cells count (< or > 103/ml3 , haemoglobin rate (Hb) or > 11g/dl, seric carcinoembryonic antigen rate (CEA) < vs > 10 ng/ml, number of metastatic sites (single vs multiple), site of metastatic site (liver vs extrahepatic) and resection or not of the metastatic localizations. RESULTS: Statistical analysis showed for univariate analysis the positive impact of : PS 1, (Hb) rate > 11 g/dl, CEA) < 10 ng/ml and resection of metastases, while in in multivariate analysis, they were : a good PS and Hb > 11 g/dl. CONCLUSION: Our retrospective study confirmed the known prognostic impact of simple clinical tools like a good performance Status and Hb > 11 g/dl, a (CEA) rate lower than 10 ng/ml and resection of metastases which were identified by several other series such as predictive factors of a better survival in patients with metastatic colorectal cancer.

Screening of SLC26A4 gene in autoimmune thyroid diseases.

The Pendred syndrome (PS) gene, SLC26A4, was involved in the genetic susceptibility of autoimmune thyroid disease (AITD) in Tunisian population. Recently, functional assays have shown a differential expression of SLC26A4 gene between Graves' disease (GD) and Hashimoto's thyroiditis (HT). Here, by the mean of DHPLC and HRM, we explored the 21 exons and their flanking intronic sequences of 128 patients affected with GD (n = 64) or HT (n = 64). The pathogenic effect of identified variations on splice was investigated using the web server HSF. Eighteen allelic variations were identified and ranged on missense, sens and splice variations. Nine identified variations (c.-66C>G, c.898A>C, c.1002-9A>C, c.1061T>C, c.1544 + 9G>T, c.1545-5T>G, c.1790T>C, c.1826T>G, c.2139T>G) were previously reported in hearing impairment studies. Forty-seven per cent (30/64) of GD patients and 37,5% (24/64) of HT patients present at least one variant in the explored sequences. Moreover, the analysis of the variant distribution between HT (9 (5'UTR), 12 exonic and 13 intronic) and GD (18 (5'UTR), 13 exonic and 5 intronic) patients showed a significant difference (χ² = 6.54, 2df, P = 0.03). Interestingly, missense changes (I300L, p.M283I, F354S and p.L597S) affected conserved residues of pendrin. On the other hand, the HSF analyses ascertain that some variants identified in HT disease are predicted to have a pathogenic effect on splice. In conclusion, our analysis of SLC26A4 sequence variations suggested a distinct genetics basis between HT and GD patients, which should be confirmed on a large cohort.

[Management of traumatic aortic rupture. About 37 cases]. / Prise en charge des ruptures de l'isthme aortique post-traumatiques. À propos de 37 cas.

OBJECTIVES: The aim of this study was to review our experience in the management of traumatic rupture of the aortic isthmus, to evaluate the results of surgery and endovascular exclusion and to develop an adequate therapeutic strategy based on the existence and severity of associated injuries. MATERIAL: A series of 37 patients presenting posttraumatic aortic rupture associated with other severe lesions was collected from 2000 to 2012. There were 33 males and four females, mean age 38 years. In this series, 25 patients underwent surgical treatment and 12 endovascular exclusion. RESULTS: Six patients died during or after surgery. Overall mortality was 16% (24% in the surgery group). The postoperative period was uneventful in all patients treated with the endovascular procedure. Postoperative computed tomography controls at one week, 1 month and 12 months showed good positioning of the stent without endoleakage. CONCLUSION: Traumatic aortic rupture is often the result of a severe high-energy chest trauma. Other serious injuries are often associated. Results of immediate surgical repair are associated with high morbidity and mortality. The advent of endovascular treatment has revolutionized the treatment of traumatic aortic rupture, especially in patients with a high surgical risk.

[Myoplasty by reversal of the pectoris major muscle in the treatment of mediastinitis. A case report and review of the literature]. / Myoplastie par retournement du grand pectoral dans le traitement des médiastinites. À propos d'un cas et revue de la littérature.

Mediastinitis are among the most dreadful infectious complications following cardiac surgery. Their prognosis depends essentially on the precociousness of the diagnosis. In most of the cases, the medical treatment associated with an irrigation drainage is sufficient. But in case of severe sternal dehiscence, plastic surgery becomes necessary in order to fill up the loss with a well-vascularized tissue. We report the case of a 78-year-old patient, chronic bronchitic who presented, after a coronary artery bypass, an aseptic sternal dehiscence necessitating an osteosynthesis, then a Klebsiella pneumoniae mediastinitis with an enlarged sternal necrosis which was treated by bone resection and a myoplasty via reversal of the right pectoris major muscle. The postsurgery course was favourable. Now, after one-year remote, cicatrisation is complete and we have not noticed any infectious recurrence.

Pendred syndrome in Tunisia.

OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS: Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax Human Molecular Genetics Department. RESULTS: Forty-three patients (mean age: 21 years [2-60 years]) were affected. Tonal audiometry showed bilateral sensorineural hearing loss in 87.5% of cases, and mixed hearing loss in 12.5% with bilateral high frequency sensorineural hearing loss and conductive hearing loss at lower frequencies. Deafness was severe in 21% and profound in 79% of cases. Thyroid goiter was found in 46.5% of cases. Inner ear CT scan found enlarged bilateral vestibular aqueducts in all cases. Hormone analysis was normal and perchlorate test negative in all cases. A single Pendred syndrome (PDS) gene mutation, L445W, was found. DISCUSSION: Pendred syndrome is the most frequent congenital deafness syndrome. It is characterized by great intrafamilial phenotype variability.

Two missense mutations in SLC26A4 gene: a molecular and functional study.

Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS). PS is a genetic disorder that causes early HL and affects the thyroid gland. Here, we report eight Tunisian families affected with profound HL. Clinical investigations revealed goiter in few patients. Genotyping using microsatellite makers showed linkage to SLC26A4, and missense mutations p.L445W and p.M147T were identified by sequencing and polymerase chain reaction-restriction fragment length polymorphism. The p.L445W mutation segregated in seven families and haplotype analysis suggested its founder effect. In order to understand the molecular pathogenic mechanisms of p.L445W and p.M147T mutations, SLC26A4 wild-type and mutant cDNA constructs were transiently expressed in COS7 cells and several human cell lines including Thyroid 8305C cells. Reverse transcription-PCR, western blot and immunofluorescence demonstrated that these two mutations abolished complex glycosylation of pendrin and prevented its targeting to the plasma membrane.

[Surgery of aortic coarctation with aneurysm of the ascending aorta and aortic coronary fistula]. / Chirurgie d'une coarctation de l'aorte chez l'adulte compliquée d'un anévrisme de l'aorte ascendante et d'une fistule aortocoronaire.

Aortic coarctation is rarely associated with an aneurysm of the ascending aorta and an aortic coronary fistula. In this study, we report the case of a 52-year-old man undergoing surgery for an isthmic coarctation who also had an aneurysm of the initial portion of the aorta and an aortic coronary fistula. The diagnosis was clinically suspected and confirmed by vascular catheterism. The first operative stage consisted of treating the coarctation. The second stage was performed two months later to remove the aneurysm and replace the ascending aorta and the aortic valve with a prosthesis. The coronary arteries were then reimplanted. The postoperative results were quite favourable.

[Schizophrenia and violence, incidence and risk factors: a Tunisian sample]. / Schizophrénie et violence: incidence et facteurs de risque à propos d'une population tunisienne.

INTRODUCTION: Schizophrenia appears to be the mental pathology the most associated with violence. The aim of this study is to show the incidence and the different risk factors of violence among schizophrenics. MATERIAL AND METHOD: We have compared a group of 30 violent schizophrenic inpatients with another group of 30 nonviolent schizophrenic inpatients hospitalised during the same period. These two groups have been matched according to age and gender. The comparison concerned: sociodemographic parameters, family and personal psychiatric history, legal antecedents, social insertion, clinic, Clinical Global Impressions (CGI), Global Impairment Scale (GIS) and Positive And Negative Syndrome Scale (PANSS) scores for admissions, familial support and insight, compliance to treatment, administered treatments, and awareness degree. RESULTS: Violent schizophrenics represent 18.07% of all hospitalisations and 26.08% of schizophrenic patients. When compared to violent schizophrenic patients, nonviolent schizophrenic patients have a better socioeconomic level (77% versus 43%), better professional adaptation (67% versus 10%) and familial support (60% versus 10%), better insight (87% versus 23%) and therapeutic control (70% versus 17%). Differences are significant. We found significantly more personal antecedents of inflicted violence within violent schizophrenics (50% versus 13%), more addictive behavior (53% versus 13%), and more paranoid and indifferentiated forms (87% versus 47%) than in nonviolent schizophrenics. The average of CGI scores was significantly higher within violent schizophrenics (5.27+/-0.8 versus 3.77+/-0.5). Conversely, the average of EGF scores was lowest (37.6+/-6.5 versus 47.8+/-5.6). The comparison of PANSS scores revealed that violent schizophrenic subjects are characterised by the existence of more positive signs and more general symptoms (34.4+/-4.7 versus 20.2+/-4.5; 55.1+/-11.4 versus 46.1+/-6.9). Violent schizophrenics are characterised by higher neuroleptic doses (2375+/-738 mg/d versus 1610+/-434 mg/d). Differences here are also significant. DISCUSSION: Addictive behaviour seems to considerably increase the risk of turning to violence. Thus in our study, 53% of violent patients showed an addictive behaviour. These results have also been reported by other authors. It is obvious that alcohol and drug abuse double the risk of violence among schizophrenic subjects. Psychotic decompensation and rich symptomatology increase the violent potential among the schizophrenics. In our study, the PANSS scores were higher among violent subjects. Nonviolent schizophrenic subjects have a lesser symptomatology of psychiatric disorders and a better outcome as shown by the CGI and EGF scores. In our study, the group of violent subjects needed higher neuroleptic doses and were noncompliant. Compliance permits the acquisition, and then maintains, the stability of the mental status and plays an essential role in decreasing dangerousness. In fact, violent schizophrenics exhibit low insight, implying diminished awareness of the legal implications of their acts, and are little aware of their illness and its dangerousness. In our study, we noted better familial support among nonviolent subjects. According to the literature, violent schizophrenics are characterised by a particularly hostile and rejecting familial environment. CONCLUSION: Awareness of these factors will allow us to provide improved prevention of violence within schizophrenic subjects.

[Papillary fibroelastoma of mitral leaflet revealed by a cerebrovascular accident. Case report]. / Fibroélastome papillaire de la valve mitrale révélé par un accident vasculaire cérébral ischémique. A propos d'un cas opéré.

Papillary fibroelastoma is a benign primitive cardiac tumour, which can be associated with serious embolic complications. We report on a 37-year-old woman admitted for a cerebrovascular accident. Transthoracic and transesophageal echocardiography revealed a small and pedunculated mass attached to the anterior mitral leaflet. Because of the severity of its symptoms and its high embolic potential, the tumour was surgically excised and histologically diagnosed as a papillary fibroelastoma. The postoperative period was uneventful and the patient was discharged at the third day. Papillary fibroelastoma must be surgically treated because of its high embolic potential and its severe prognosis.

[Association of Parry-Romberg syndrome and paroxymal kinesigenic dyskinesia]. / Association syndrome de Parry-Romberg et dyskinésie paroxystique kinésigénique.

INTRODUCTION: Parry-Romberg syndrome is a rare entity of unknown etiology, characterized by hemifacial or hemibody atrophy affecting subcutaneous tissues. Its main clinical manifestations are neurological, ocular and dermatological. Paroxysmal kinesigenic dyskinesia (PKD) is characterized by brief episodes of choreic/dystonic movements triggered by sudden movements and improved by antiepileptic drugs particularly carbamazepine. It can be sporadic or familial with an autosomal dominant inheritance. Little is known about the pathophysiology of PKD, although a channelopathy is thought likely. The association of these two diseases is rare. CASE REPORT: Over three years, a 42-year-old patient progressively developed left hemiatrophy. Since age 14, he presented paroxysmal dystonic disorders of the limbs triggered by sudden movements and controlled by carbamazepine. The diagnosis of PKD associated with Parry-Romberg syndrome was established. Investigations revealed immunologic and diffuse electrophysiological abnormalities (EEG and EMG). CONCLUSION: PKD associated with Parry-Romberg syndrome is very rare but does not appear to be fortuitous. It suggests a common mechanism via an underlying channelopathy or dysimmune disorder.

[Myotonia and hypothyroidism]. / Myotonie et hypothyroïdie.

INTRODUCTION: Hypothyroidism is frequently associated with different neuromuscular disorders. However myotonia is rarely a revealing feature. CLINICAL CASES: Two patients aged 28 and 31 years consulted for a progressive myotonia. Blood and thyroid analysis revealed peripheral hypothyroidism with low FT4 and high TSH levels. Outcome was favorable with thyroid hormone substitution. Myotonia regressed and thyroid hormone levels returned to normal. CONCLUSION: Myotonia may reveal hypothyroidism. The pathogenic mechanism of this myotonia is an unknown. Good outcome with thyroid hormone substitution requires a systematic thyroid hormone screening in patients presenting neuromuscular manifestations.

[Clinical case of the month. Histological discovery of a lung cancer in an enormous emphysematous bulla]. / Le cas clinique du mois. Découverte histologique d'un cancer du poumon dans une énorme bulle d'emphysème.

The development of a lung cancer in young patients with emphysematous bullae is a classical, albeit rare, event. These patients can however be operated upon for the resection of a giant bulla causing respiratory distress. We report the case of a 41 year old male patient who was submitted to the resection of a giant right apical emphysematous bulla. The histopathological examination of the fragment revealed an undifferentiated lung carcinoma the diameter of which was less than one centimeter. This observation underlines the need for a systematic examination of the resected material and for a careful radiological follow-up of such patients.

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.

[Massive hemoptysis: experience of a surgical unit]. / Hémoptysies massives: expérience d'une unité chirurgicale.

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.

[Prevalence of celiac disease serological markers in Tunisian type 1 diabetic adults]. / Prévalence des marqueurs sérologiques de la maladie coeliaque chez des adultes tunisiens diabétiques de type 1.

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.