Characterization, antioxidant, antimycobacterial, antimicrobial effcts of Moroccan rosemary essential oil, and its synergistic antimicrobial potential with carvacrol.

Thanks to their promising properties, essential oils (EOs) have strong potential to remedy several problems such as microorganisms acquired resistance to antimicrobial agents and chemical antioxidants toxicity. Firstly, this work was conducted to determine chemical composition, antioxydant activity, then antibacterial, antifungal, antimycobacterial properties of Rosmarinus officinalis EO. Secondly, EOs combined antimicrobial effect with carvacrol was assessed. Chemical EO analysis was performed using Gas chromatography/mass spectrometer. 1,1-diphenyl-2-picrylhydrazyl test was used to evaluate in vitro antioxidant rosemary oil effect. The antimicrobial activity against seven bacteria, two fungi, and two mycobacterial strains was screened using the broth microdilution method. Thereafter, the checkerboard essay was used to evaluate the antibacterial effect of this EO and Carvacrol. Chemical EO analysis revealed 1,8-cineole (33.88%), camphor (14.66%), and α-pinene (12.76%) as main constituents. The obtained IC50 value (2.77 mg/mL) showed rosemary EO's radical scavenging power. Moreover, all tested microorganisms showed an important sensitivity to this EO (MIC values: 0.007%-1% (v/v)). Furthermore, results highlighted synergistic and partial synergistic interaction for tested products. The studied EO has both antimicrobial and antioxidant potentials. Combined application showed a remarkable synergistic antibacterial potentiation that can be used as an alternative in pharmaceutical and food processing sectors.

Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.

Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was PTPN11, followed by SOS1, RAF1, KRAS, BRAF, NRAS, MAP2K1, and RIT1, and recently SOS2, LZTR1, and A2ML1, among others. Progressively, the physiopathology and molecular etiology of most signs of Noonan syndrome have been demonstrated, and inheritance patterns as well as genetic counseling have been established. In this review, we summarize the data concerning clinical features frequently observed in Noonan syndrome, and then, we describe the molecular etiology as well as the physiopathology of most Noonan syndrome-causing genes. In the second part of this review, we assess the mutational rate of Noonan syndrome-causing genes reported up to now in most screening studies. This review should give clinicians as well as geneticists a full view of the molecular aspects of Noonan syndrome and the authentic prevalence of the mutational events of its causing-genes. It will also facilitate laying the groundwork for future molecular diagnosis research, and the development of novel treatment strategies.

The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.

BACKGROUND/AIM: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000-2500. It results from protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) mutations in roughly 50% of cases. Mutational screening of PTPN11 has been carried out in different populations. Thus, the aim of this study was to screen, for the first time, PTPN11 mutations in a series of Moroccan Noonan syndrome patients. MATERIALS AND METHODS: We used bidirectional sequencing of exons 3 and 8, considered as PTPN11 mutation hot spots, and then compared the rate of mutational events of these exons between different populations using chi-square and Fisher's exact tests. RESULTS: We detected 3 heterozygous mutations (Asp6lGly, Tyr63Cys, and Asn308Ser) in 4 individuals of 16 sporadic patients (25%). The rate of mutation in our cohort did not differ from that of other populations. However, we found significant differences in the mutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained. CONCLUSION: The present study allowed identification of mutations clustered in exons 3 and 8 of the PTPN11 gene in a Moroccan Noonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients.