Isotopic exploration of hepatic hydrothorax: ten cases

OBJECTIVE: The aim of this retrospective study was to evaluate the performance of peritoneal scintigraphy for the diagnosis of peritoneopleural communication in patients with cirrhosis and to discuss its role in therapeutic management. PATIENTS AND METHODS: Ten patients with cirrhosis and pleural effusion were included in this study. Cirrhosis was due to viral hepatitis in eight patients, auto-immune disease in one patient and of unknown origin in one. The pleural effusion was right-sided in nine patients and bilateral in one. 99m-technetium sulfur colloid peritoneal scintigraphy was performed in all patients. RESULTS: Scintigraphy revealed peritoneopleural communication in nine patients. In four patients, radioactivity appeared in the pleural cavity within a few minutes after injection of the radiotracer. In three of them, a large diaphragmatic defect was demonstrated by ultrasonography, magnetic resonance imaging or thoracoscopy. Complete response to medical treatment was observed in four patients. Scintigraphy revealed rapid radioactivity migration in four patients; diuretic treatment led to resolution of the hydrothorax in one of them. Three patients whose hydrothorax was refractory to medical treatment were treated by pleurodesis with talc. Resolution of the hydrothorax was achieved in one of them. CONCLUSION: Peritoneal scintigraphy is a simple non-invasive method enabling confirmation of peritoneopleural communication in cirrhotic patients. The importance of the diaphragmatic defect can also be evaluated, providing a significant contribution to therapeutic decision-making.     

HLA-B, DR and DQ antigens polymorphism in Tunisian patients with ankylosing spondylitis (a case–control study)

The objective of the study is to assess the distribution of HLA-B genes, HLA-B27 subtypes, HLA-DRB1 and HLA-DQB1 alleles in patients with ankylosing spondylitis (AS) and in control subjects in the Tunisian population and to compare their distribution with that found in other countries. This is a case–control study that included 100 consecutive patients (85 males/15 females) with AS according to the modified New York criteria and 100 control individuals. HLA-B, B27 subtypes and class II (DR and DQ) typing of all subjects was performed by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP). HLA-B27 was found in 62% of patients against 3% in controls (P = 0.0000, OR = 52.6, 15.6 < CI < 166.7). On the other hand, B*07 and B*51 were significantly decreased in comparison with controls (P = 0.01, OR = 0.3, 0.1 < CI < 0.8 and P = 0.0000, OR = 0.2, 0.1 < CI < 0.4, respectively). Eight B*27 subtypes were identified in the AS group, but the most frequent ones were B*2702 (32%) and B*2705 (24%). Among HLA-DRB1 alleles, a significant increase in DRB1*11 was found in comparison with controls (P = 0.01, OR = 2.2, 1.2 < CI < 4.5). However, DRB1*13 had a negative association with AS (P = 0.01, OR = 0.4, 0.2 < CI < 0.8). For HLA-DQB1 alleles, a significant positive association with DQB1*03 was observed in AS group (P = 0.03, OR = 1.8, 1.0 < CI < 3.4). Multivariate analysis by logistic regression revealed that DRB1*11 and DQB1*03 had no direct links with the disease, but were dependent on the presence of HLA-B27. Moreover, B*07 and B*51 seemed to have independently a negative correlation with AS, but DRB1*13 seemed to depend on B*51. Haplotypes carrying B27 were significantly associated with AS and those carrying B*07 or B*51 were negatively correlated with the disease. In conclusion, our study confirms that B27 predisposes to AS while B*07 and B*51 are negatively correlated with the disease.     

Visual impairment in Tunisia

The purpose is to study visual impairment in Tunisia, its epidemiology, its etiologies and to present the major prevention measures. This study was conducted between 1992 and 1998. 1105 patients were examined in specialized outpatient clinic. Our group is composed from 712 men and et 393 women, aged 1 to 93 years. 435 patients were partially sighted and 670 were blind. Adults pathologies were dominated by acquired cataracts and adult glaucomas; diabetic retinopathy and age related macular degeneration are less frequent. Infectious ocular diseases are in constant decrease in Tunisia since 30 years. Prevention is fundamental and must be done each time it is possible. Visual reeducation should improve autonomy and familial and socio-economic reintegration of these visually impaired.     

Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness

Deafness is an important health problem in the Tunisian population, especially in isolates where the prevalence ranges from 2 to 8%. To evaluate the effect of inbred unions on deafness, a study was conducted on 5,020 individuals (160 are deaf) between 2000 and 2002 in the North of Tunisia. The coefficient of inbreeding for all individuals and the levels of inbreeding in ten districts were computed. The higher levels were obtained in the rural districts. Our study revealed that geographic isolation, social traditions, and parental involvement in mode selection all contribute to increase consanguinity in these regions. The mean inbreeding seems to be similar to those estimated in highly inbred isolates in the world. The relative risk of the 35delG mutation, the single most frequent allele for non-syndromic recessive deafness in Tunisia, was estimated from the observed inbreeding coefficient and found to be 10.76 (SD 7.74) for first-cousin marriages, which are the most common form of consanguineous marriage encountered. Our knowledge of the risk rate of deafness and our understanding of consanguinity is required for the prevention of genetic deafness in the Tunisian population.     

Clinical and genetic analysis of two Tunisian otosclerosis families

Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3-0.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes COL1A1 and COL1A2, and NOG gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the OTSC3 region on chromosome 6p21.3-p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis.     

Patterns of Failure and Outcome in Patients with Carcinoma of the Anal Margin

Background To evaluate the outcome of patients with carcinoma of anal margin in terms of recurrence, survival, and radiation toxicity. Methods A series of 45 consecutive patients, with anal margin carcinoma treated between 1983 and 2006 with curative intent at two institutions, was retrospectively analyzed. A surgical excision (close or positive surgical margin in 22 out of 29 patients) was realized before radiotherapy (RT). RT consisted of definitive external beam RT (EBRT) in 36 patients, brachytherapy (BT) alone in two patients, and both BT and EBRT in seven patients. The median total radiation dose was 59.4 Gy (range, 30–74 Gy). Results The 5-year locoregional control (LRC) rate was 78% [95% confidence interval (CI), 64–93%]. The 5-year disease-specific survival (DSS) and overall survival (OS) rates were respectively 86% (95% CI, 72–99%) and 55% (95% CI, 44–66%). The overall anal conservation rate was 80% for the whole series. There was no significant association between local recurrence and patient age, histological grade, tumor size, T stage, overall treatment time, RT dose, or chemotherapy. Long-term side effects were observed in 15 patients (33%). Only three patients developed grade 3–4 late toxicity (CTCAE/NCI v3.0). Significant relationship was found between dose, and complication rate (48% for dose ≥59.4 Gy versus 8% for dose < 59.4 Gy; P = 0.03). Conclusions We conclude that definitive RT and/or BT yield a good local control and disease-specific survival comparable with published data. This study suggests that radiation dose over 59.4 Gy seems to increase treatment-related morbidity. Presented at the 49th Annual Meeting of the American Society for Therapeutic Radiology and Oncology, Los Angeles, CA, 28 October to 1 November 2007. Kaouthar Khanfir and Mahmut Ozsahin contributed equally to this work.