11 research outputs found
Omenn Syndrome : Two Case Reports
Omenn syndrome is a variant of combined severe immunodeficiencydue to mutations in RAG genes. It is characterized by polymorph symptoms andlethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50and 46 days. The clinical and biological signs were typical and complete in the firstcase. In the second case, only the cutaneous signs were present. Diagnosis was confirmedby genetic study. The Rag1 T631 mutation was found in these two patients.Hematopoietic stem cell transplantation could not be done and the evolution wasfatal in both cases because of severe infectious episodes. Prenatal diagnosis wasperformed in the two families and each family has currently a healthy child. In conclusion,early diagnosis of Omenn syndrome may avoid infectious complicationsresponsible for delay in therapeutic management. Genetic study confirms the diagnosis.The treatment usually consists of hematopoietic stem cell transplantationin association with immunosuppressive drugs. Prenatal diagnosis is very importantto allow parents to have healthy children.</p
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
Intubation-Surfactant-Extubation Strategy in a Medical Resource-limited Department: A Prospective Study
Detection of Shigella spp. nucleic acids in the synovial tissue of Tunisian rheumatoid arthritis patients and other forms of arthritis by quantitative real-time polymerase chain reaction
Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents
Purification and biochemical characterization of two detergent-stable serine alkaline proteases from Streptomyces sp. strain AH4
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
International audienc
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study
International audienceAn expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases (VEO-IBD). The present study aimed at defining how next-generation sequencing (NGS) methods can be used to improve identification of known molecular diagnosis and adapt treatment