ABSTRACT
Background: Familial Mediterranean Fever (FMF) is an autosomal recessive auto-inflammatory disease characterized by pathogenic variants in the MEFV gene, with allele frequencies greatly varying between countries, populations and ethnic groups. Materials and methods: In order to analyze the spectrum of MEFV variants and genotypes among clinically diagnosed FMF patients from South Lebanon, data were collected from 332 participants and 23 MEFV variants were screened using a Real-Time PCR Kit. Results: The mean age at symptom onset was 17.31 ± 13.82 years. The most prevalent symptoms were abdominal pain, fever and myalgia. MEFV molecular analysis showed that 111 patients (63.79%) were heterozygous, 16 (9.20%) were homozygous, and 47 (27.01%) carried two variants or more. E148Q was the most encountered variant among heterozygous subjects. E148Q/M694V was the most frequent in the compound heterozygous/complex genotype group, while M694I was the most common among homozygous patients. Regarding allele frequencies, M694V was the most common variant (20.7%), followed by E148Q (17.1%), V726A (15.7%) and M694I (13.2%). Conclusion: The high percentage of heterozygous patients clinically diagnosed as FMF highlights the pseudo-dominant transmission of the disease in Lebanon and emphasizes the importance of molecular testing for a more accurate diagnosis and better management and treatment of FMF.
ABSTRACT
INTRODUCTION: The rapid increase in Campylobacter strains resistant to antibiotics represents a major problem for public health. In Lebanon, campylobacteriosis is underdiagnosed since bacteria detection in stool samples is not performed routinely. This study aims to evaluate the prevalence, sources and routes of transmission, risk factors and antimicrobial susceptibility patterns of Campylobacter spp. in Lebanon. METHODOLOGY: Stool samples collected from 1000 Lebanese patients with diarrhea, and 150 meat samples taken from supermarkets and slaughterhouses were subjected to Campylobacter detection. Colonies were identified by Gram staining, oxidase and catalase activities. They were then differentiated at the species level by hippurate test and PCR. Susceptibility of Campylobacter spp. to antibiotics was studied by the disc diffusion standard method. RESULTS: Campylobacter spp. were detected in 21.5% of stool samples; the main isolated species being C. jejuni (83.2%) and C. coli (13.9%). The highest Campylobacter infection rates were detected among children (41.8%) and during summer (31.6%). Consumption of contaminated meat and salads, and contact with animals represented the major risk factors for campylobacteriosis, with poultry carcasses and bovine cuts identified as the main bacteria reservoirs. Neither demographic determinants nor season had a major effect on the prevalence of campylobacteriosis. Erythromycin was the most active agent against Campylobacter spp. A multi-resistance rate was observed in 35.9% of isolates. CONCLUSIONS: Campylobacteriosis is a major public health concern in Lebanon. Bacteria detection in stool culture should be performed routinely to allow an early diagnosis and a better monitoring of the disease and its burden.
