West syndrome and mosaic trisomy 13: A case report

Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 Most patients (80%) with Patau syndrome have complete trisomy 13. Mosaic trisomy 13 is very rare; it occurs in only 5% of all patients with the trisomy 13 phenotype.2 Trisomy 13 is a clinically severe entity, and 90 to 95% of patients born with this syndrome do not survive beyond one year of life. However, patients with mosaic trisomy 13 usually have longer survival and less severe phenotype compared to patients with complete trisomy 13. Malformations mainly affect midline development, with a high frequency of central nervous system involvement. The presence of central nervous system malformations is important as a predictive factor of survival.1,3 It is well known that the incidence of epilepsy is higher in children with Patau syndrome than in the general population, and West syndrome or infantile spasms have been rarely reported in these children.1,4,5 Prior to our report, there has been no case report of West syndrome associated with mosaic trisomy 13. The association of West syndrome with trisomy 13 is considered a symptomatic West syndrome because of preexisting psychomotor development delay and the poor prognosis in most of these children.6 We report here the first case of West syndrome in a girl with mosaic trisomy 13 and discuss the clinical characteristics and prognosis of this association

Rotavirus Strain Diversity in the Centre Coast of Tunisia from 2000 through 2003

An epidemiological survey investigating rotavirus infection in children was undertaken in the coastal region of Tunisia from January 2000 through September 2003. A total of 309 fecal specimens were screened by enzyme-linked immunosorbent assay and latex agglutination assay for the presence of group A rotavirus antigen. The detection rate was 26.2%. Rotavirus outbreaks showed a temperature-dependant pattern (P= .026) but no significant association with rainfall. Rotavirus strains isolated were analyzed by RNA polyacrylamide gel electrophoresis and were characterized antigenically by monoclonal antibodies to the VP6 subgroup. Eight RNA electropherotypes were identified, with 3 long and 5 short different RNA profiles. Among VP6 typeable strains, all isolates with a long electrophoretic pattern carried the subgroup II specificity, whereas those with a short profile belonged to subgroup I. In total, 48 rotavirus-positive samples were analyzed for G and P typing by reverse-transcription polymerase chain reaction. A total of 8 different G and P combinations were found: G1P[8] (35.7%), G1P[6] (21.4%), G2P[4] (4.8%), G3P[4] (4.8%), G4P[6] (4.8%), G8P[8] (4.8%), G3P[8] (2.3%), and G4P[8] (2.3%). Mixed infections were detected in 19.1% of stool samples. The emergence in Tunisia of unconventional types, such as G8VP7 specificity, highlights the need for a continual survey of the uncommon strains in North Afric

Primary resistance to clarithromycin, metronidazole and amoxicillin of Helicobacter pylori isolated from Tunisian patients with peptic ulcers and gastritis: a prospective multicentre study

<p>Abstract</p> <p>Background</p> <p>The frequency of primary resistance to antibiotics in H. pylori isolates is increasing worldwide. In Tunisia, there are limited data regarding the pattern of H. pylori antibiotic primary resistance.</p> <p>Aim</p> <p>To evaluate the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and to detect the mutations involved in clarithromycin resistance.</p> <p>Materials and methods</p> <p>273 strains isolated from adults and children were enrolled. The primary resistance to clarithromycin, metronidazole and amoxicillin was evaluated by means of E-test minimal inhibitory concentration (MIC). The real-time PCR using Scorpion primers was performed in all cases to assess clarithromycin primary resistance and point mutations involved.</p> <p>Results</p> <p>No resistance to amoxicillin was detected. For adults, resistance to clarithromycin and metronidazole was found respectively in 14.6% and 56.8%, and respectively in 18.8% and 25% in children. Overall, the rates of global primary resistance to clarithromycin and metronidazole in Tunisia were respectively determined in 15.4% and 51.3%.</p> <p>By the use of Scorpion PCR, the A2143G was the most frequent point mutation observed (88.1%), followed by the A2142G (11.9%); the A2142C was not found and 18 of 42 patients (42.8%) were infected by both the resistant and the susceptible genotype.</p> <p>The association of clarithromycin resistance with gender was not statistically significant, but metronidazole resistant strains were isolated more frequently in females (67.8%) than in males (32.2%) and the difference was significant. As for gastroduodenal diseases, the difference between strains isolated from patients with peptic ulceration and those with non peptic ulceration was not statistically significant. When about the distribution of resistant strains to clarithromycin and metronidazole between the three Tunisian cities (Tunis, Menzel Bourguiba and Mahdia), the difference was not statistically significant.</p> <p>Conclusion</p> <p>Local data regarding the primary resistance of H. pylori to clarithromycin, metronidazole and amoxicillin and the main genetic mutation involved in clarithromycin resistance in vivo (A2143G) are necessary to prove a clear need for a periodic evaluation of antibiotic consumption and new therapeutic strategies in Tunisia in order to avoid the emergence of resistant strains.</p

A cost-effectiveness analysis of PHiD-CV compared to PCV13 in a national immunization program setting in Tunisia

Background In response to the substantial clinical and economic burden of diseases caused by Streptococcus pneumoniae and non-typeable Haemophilus influenzae (NTHi) in Tunisia, the 10-valent pneumococcal non-typeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV) was recently introduced into the national immunization program. However, there has yet to be a full-scale health economic analysis comparing currently available pneumococcal conjugate vaccines (PCVs) in Tunisia. Methods A Markov model that simulated the disease processes of invasive pneumococcal disease (IPD), pneumonia, and acute otitis media (AOM) over a newborn cohort lifetime was used to evaluate the cost-effectiveness/utility of PHiD-CV and the 13-valent pneumococcal conjugate vaccine (PCV13) from payer’s perspective, using 3% discounting. Vaccine effects were considered for up to 9 years of age. Results Vaccination with PHiD-CV or PCV13 was estimated to avert approximately 700 cases of IPD (200 meningitis, 500 bacteremia), and around 5,000 cases of all-cause pneumonia. However, PHiD-CV vaccination was estimated to avert around 4,000 additional AOM cases (18,000) versus PCV13 (14,000). Both PCVs were demonstrated to be cost-effective interventions, but PHiD-CV was estimated to generate additional cost savings of almost $1 million US dollars (USD) with similar levels of clinical benefits. An additional scenario which incorporated serotype-specific vaccine efficacy found no significant change in overall results. Conclusion PCVs are a cost-effective strategy to relieve the burden associated with diseases caused by S. pneumoniae and NTHi in Tunisia. PHiD-CV is more cost-effective than PCV13, generating similar health benefits, at a reduced net cost of almost$1 million USD per vaccinated cohort

Fertility outcome in male and female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Objective: To investigate fertility in a sample of Tunisian patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design: Tunisian bicentric prospective study. Setting: Endocrinology department, Hedi Chaker Hospital, Sfax, Tunisia and Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Mahdia, Tunisia. Materials and methods: Twenty-six patients (11 M; 15 F), aged 16.5–48 years, were enrolled. Clinical, biological, hormonal and ultrasound examinations were performed to assess fertility. Results: Eighteen had the classical form and eight the non classic. One patient had palpable testicular nodule. Inhibin B level was decreased in four male patients. Semen analysis showed abnormalities in four of 10 patients. Testicular adrenal rest tumors (TARTs) were detected in 6/11 patients. Menstrual disorders and hirsutism were noted in four and nine female patients, respectively. Six patients showed polycystic ovary syndrome. Anti-Mullerian hormone level was reduced in four female patients. Among four female patients who wished to get pregnant, two of them achieved one successful pregnancy, miscarriage occurred in one patient and the remaining patient was sterile. Fertility issues in our patients appeared to be related to poor hormonal control and a result of noncompliance with medication schedules. Conclusion: Fertility in male and female patients with CAH is reduced. Early and adequate glucocorticoid therapy along with good compliance, careful monitoring of androgen levels and continuous psychological management could contribute to improved fertility rates in this population, even among those with the severe variant

Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis

Background: Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI) abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function. Aims: In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency. Materials and Methods: Neurological examination and brain MRI were performed in 26 patients. Results: Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3%) showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients. Conclusions: Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients

International audienceMegaloblastic anaemia 1 (MGA1) is a rare autosomal recessive condition characterized by selective intestinal vitamin B12 malabsorption and proteinuria. More than 200 MGA1 patients have been identified worldwide, but the disease is relatively prevalent in Finland, Norway and several Eastern Mediterranean regions. MGA1 is genetically heterogeneous and can be caused by mutations in either the cubilin (CUBN) or the amnionless (AMN) gene. In the present study we investigated the molecular defect underlying MGA1 in nine Tunisian patients belonging to six unrelated consanguineous families. Haplotype and linkage analyses, using microsatellite markers surrounding both CUBN and AMN genes, indicated that four out of the six families were likely to be linked to the CUBN gene. Patients from these families were screened for the Finnish, Mediterranean and Arabian mutations already published. None of the screened mutations could be detected in our population. One family showed a linkage to AMN gene. Direct screening of the AMN gene allowed the identification of the c.208-2A > G mutation, previously described in a Jewish Israeli patient of Tunisian origin and in Turkish patients. This suggests that the c.208-2A > G mutation may derive from a single Mediterranean founder ancestor. For the last family, haplotype analysis excluded both CUBN and AMN genes, suggesting the existence of a third locus that may cause MGA1

Prevalence of <it>Helicobacter pylori vacA</it>, <it>cagA</it>, <it>iceA </it>and <it>oipA </it>genotypes in Tunisian patients

Abstract Background Distinct virulence factors of H. pylori have been described: the vaculating cytotoxin (vacA), the cytotoxin associated gene (cagA), the induced by contact with epithelium factor Antigen (iceA gene) and the outer membrane protein oipA. In Tunisia, there are no data regarding the pattern of H. pylori genotypes; therefore, this prospective and multicentre study was the first to be done in Tunisia and aimed to investigate the prevalence of the vacA, cagA, iceA and oipA genotypes of H. pylori isolates from Tunisian patients with peptic ulceration, gastric cancer, MALT lymphoma and gastritis. Methods H. pylori was cultured from endoscopic biopsies obtained from 281 Tunisian patients. The vacA alleles, cagA, iceA and oipA genotypes were determined by PCR. Results The vacA s1m1, s1m2 and s2m2 were respectively found in 10.7%, 12.5% and 45.6% of strains. The s2m1 genotype was not detected in our study. The cagA was found in 61.6% of isolates. The iceA1 and the iceA2 genotypes were respectively isolated in 60.2% and in 16% of strains. The oipA genotype was detected in 90.8% of strains. Considering the vacA and iceA genotypes, the presence of multiple H. pylori strains in a single biopsy specimen was found respectively in 31.4% and 23.8%. The comparison between strains isolated from antrum and fundus showed that Tunisian patients were infected with two or more strains of different cagA, vacA, iceA and oipA genotypes and the discordance was respectively in 9.6%, 4.6%, 8.9% and 8.5% of strains. Conclusion Our results showed that in 46% (131 strains among 281), the H. pylori strains were highly virulent in relation of the three or four virulent factors they could carry. These finding were described before in the literature. Tunisian patients were colonized by one or multiple strains of H. pylori in the same time in relation of presence of vacA m1/m2 and iceA1/iceA2 in the same biopsy. The discordance between strains isolated from antrum and fundus was high, and it is in favour of multicolonization.</p

Enterovirus meningitis in Tunisia (Monastir, Mahdia, 2011–2013): identification of virus variants cocirculating in France

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