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Nadege Kammoun Jellouli Ikhlass Hadj Salem Emna Ellouz Nacim Louhichi Abdelaziz tlili Fatma Kammoun Chanez Triki Faiza Fakhfakh 《Gene》2013
Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease (PMLD) are hypomyelinating leucodystrophies of the central nervous system (CNS) with a very similar phenotype. PMD is an X-linked recessive condition caused by mutations, deletion duplication or triplication of the proteolipid protein 1 gene (PLP1). However, PMLD is a recessive autosomal hypomyelinating leukodystrophy caused by mutations of the GJC2 gene. In this study, we analyzed 5 patients belonging to 4 Tunisian families. Direct sequencing of GJC2 gene in all probands showed the same homozygous founder mutation c.-167A>G localized in the promoter region. We also generated two microsatellite markers GJC2 195GT and GJC2 76AC closed to the GJC2 gene to confirm the presence of a founder effect for this mutation. Haplotype study showed that the c.-167A>G promoter mutation occurred in a specific founder haplotype in Tunisian population. The identification of this founder mutation has important implications towards genetic counseling in relatives of these families and the antenatal diagnosis. 相似文献
43.
Isabelle Halphen Caroline Elie Valentine Brousse Muriel Le Bourgeois Slimane Allali Damien Bonnet Mariane de Montalembert 《PloS one》2014,9(5)
Hypoxia is a common feature in children with sickle cell disease (SCD) that is inconsistently associated with painful crises and acute chest syndrome. To assess the prevalence and risk factors of hypoxia, we recorded daytime, nocturnal, and postexercise pulse oximetry (SpO2) values in 39 SCD patients with a median age of 10.8 years. Median daytime SpO2 was 97% (range, 89%–100%), and 36% of patients had daytime hypoxia defined as SpO2<96%. Median nocturnal SpO2 was 94.7% (range, 87.7%–99.5%), 50% of patients had nocturnal hypoxia defined as SpO2≤93%, and 11(37%) patients spent more than 10% of their total sleep time with SpO2<90%. Median postexercise SpO2 was 94% (range, 72%–100%) and 44.7% of patients had postexercise hypoxia defined as an SpO2 decrease ≥3% after a 6-minute walk test. Among patients with normal daytime SpO2, 35% had nocturnal and 42% postexercise hypoxia. Compared to 9 patients without daytime, nocturnal, or postexercise hypoxia, 25 patients with hypoxia under at least one of these three conditions had greater anemia severity (P = 0.01), lower HbF levels (P = 0.04), and higher aspartate aminotransferase levels (P = 0.03). Males predominated among patients with postexercise hypoxia (P = 0.004). Hypoxia correlated neither with painful crises nor with acute chest syndrome. Of 32 evaluable patients, 6 (18.8%) had a tricuspid regurgitation velocity ≥2.6 m/s, and this feature was associated with anemia (P = 0.044). Median percentage of the predicted distance covered during a 6-minute walk test was 86% [46–120]; the distance was negatively associated with LDH (P = 0.044) and with a past history of acute chest syndrome (P = 0.009). In conclusion, severe episodes of nocturnal and postexercise hypoxia are common in children with SCD, even those with normal daytime SpO2. 相似文献
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While conducting our research on mutations in the human blood platelet glycoprotein Ib-alpha (GPIbalpha) gene, we detected an unusual deletion of 84 bp. This deletion took place in vitro, during PCR and between two direct repeats. It was observed that the deletion could be detected either by the direct sequencing of the PCR product or after the latter's cloning into a plasmid. After observing a series of four sequenced clones from the same individual, we noticed that while three had the same 84-bp deletion, the fourth exhibited a shorter one. We also noted that there were no cases wherein both deleted and undeleted amplicons coexisted and that several point mutations occurred in the sequence surrounding the deletion. Such Taq errors are statistically more frequent in the "deletion prone DNA" than usual. Interestingly, the deletion was observed only in a DNA, which we call here "deletion prone DNA", whose structure might have been particularly reorganized. Indeed, the mung bean nuclease pre-treatment of this DNA prior to PCR prevented the deletion, thus strengthening the hypothesis that an intra-strand hairpin structure was involved in the deletion process. Direct repeats-mediated deletion is well known in vivo but this is the first report of such "in vitro direct repeats deletion". 相似文献
46.
Houda Hmani Lobna Daoud Mouna Jlidi Karim Jalleli Manel Ben Ali Adel Hadj Brahim Mansour Bargui Alaeddine Dammak Mamdouh Ben Ali 《Journal of industrial microbiology & biotechnology》2017,44(8):1157-1166
We have proposed and validate an in vitro probiotic selection, based on enzymatic potentialities associated to well-established probiotic functional properties. A new Bacillus subtilis HB2 isolate, selected based on its high extracellular enzyme production, was chosen as a probiotic candidate for application as animal feed supplement. The HB2 strain showed an excellent acid and bile salts tolerance, a strong adhesion to chick enterocytes and produced antimicrobials against pathogens. An in vivo trial in poultry farming was conducted to evaluate the HB2 probiotic performance. After 35 days, HB2 achieved the higher growth performance than the control groups. The mortality and the feed conversion ratio were significantly decreased. Finally, the HB2 treated group showed wet litter and less severe ammonia odor in the atmosphere. Our study provides new insights into the importance of enzymatic potentialities, associated with the common functional properties, as a novel approach for probiotic selection. 相似文献
47.
Yamina Hadj Rabia-Boukhalfa Yannick Eveno Solange Karama Okba Selama Béatrice Lauga Robert Duran Hocine Hacène Véronique Eparvier 《World journal of microbiology & biotechnology》2017,33(6):126
A halotolerant Actinobacteria strain HR-4 was isolated from a salt lake soil sample in Algerian Sahara. Analysis of 16S rDNA gene sequence showed that strain HR-4 belonged to the genus Nocardiopsis. The similarity level ranges between 97.45 and 99.20% with Nocardiopsis species and Nocardiopsis rosea being the most closely related one. Morphological, physiological and phylogenetic characteristics comparisons showed significant differences with the nearest species. These data strongly suggest that strain HR-4 represents novel species. The antimicrobial activity of strain HR-4 showed an antibacterial activity against Gram-positive bacteria as well as an antifungal one. Two major natural products including a new one were isolated from the culture broth using various separation and purification procedures. The chemical structure established on the basis of spectroscopic studies NMR and by comparing with spectroscopic data from the literature of the two compounds affirm that they are classified in the group of Angucyclinones. This is the first report of a production of this type of molecules by the genus Nocardiopsis. The new natural compound was established as (?)-7-deoxy-8-O-methyltetrangomycin with a new configuration. 相似文献
48.
Bernier A Catelin C Ahmed MA Samson N Bonneau P Praud JP 《Journal of applied physiology (Bethesda, Md. : 1985)》2012,112(12):1984-1991
Current knowledge suggests that, to be successful, oral feeding in preterm infants should be initiated as soon as possible, often at an age where immature respiration still requires ventilatory support in the form of nasal continuous positive airway pressure (nCPAP). While some neonatologist teams claim great success with initiation of oral feeding in immature infants with nCPAP, others strictly wait for this ventilatory support to be no longer necessary before any attempt at oral feeding, fearing laryngeal penetration and tracheal aspiration. Therefore, the aim of the present study was to provide a first assessment of the effect of various levels of nCPAP on bottle-feeding in a neonatal ovine model, including feeding safety, feeding efficiency, and nutritive swallowing-breathing coordination. Eight lambs born at term were surgically instrumented 48 h after birth to collect recordings of electrical activity of laryngeal constrictor muscle, electrocardiography, and arterial blood gases. Two days after surgery, lambs were bottle-fed under five randomized nCPAP conditions, including without any nCPAP or nasal mask and nCPAP of 0, 4, 7, and 10 cmH(2)O. Results revealed that application of nCPAP in the full-term lamb had no deleterious effect on feeding safety and efficiency or on nutritive swallowing-breathing coordination. The present study provides a first and unique insight on the effect of nCPAP on oral feeding, demonstrating its safety in newborn lambs born at term. These results open the way for further research in preterm lambs to better mimic the problems encountered in neonatology. 相似文献
49.
Fawrou Seye Thomas Bawin Slimane Boukraa Jean-Yves Zimmer Mady Ndiaye Frank Delvigne Frédéric Francis 《Applied Entomology and Zoology》2014,49(3):453-458
Aphids (Homoptera: Aphididae) are sap-sucking insect pests that feed on several plants of agronomical importance. Entomopathogenic fungi are valuable tools for potential aphid control. As part of a selection process, laboratory bioassays were carried with five different concentrations of Aspergillus clavatus (Desmazières), Aspergillus flavus (Link) and Metarhizium anisopliae ((Metschnikoff) Sorokin) spores against the pea aphid, Acyrthosiphon pisum (Harris). Aspergillus isolates induced higher mortalities than M. anisopliae, which is a well-known entomopathogen in the literature. Lethal concentrations (LC50 and LC90) were 1.23 × 103 and 1.34 × 107 spores/ml for A. flavus, 4.95 × 102 and 5.65 × 107 spores/ml for A. clavatus, and 3.67 × 103 and 9.71 × 107 spores/ml for M. anisopliae 5 days after treatment. Mycelia development and sporulation on adult cadavers were observed 48 h after incubation. The intrinsic growth rate of A. pisum decreased with increased spore concentration for all fungal strains, suggesting an increase in pathogen fitness related to a consumption of host resources. In conclusion, Aspergillus species could be useful in aphid control as pest control agents despite their saprophytic lifestyle. This is also to our knowledge the first report of A. clavatus and A. flavus strains pathogenic to aphids. 相似文献
50.
Ben Nejma Mouna Mastouri Maha Bel Hadj Jrad Besma Makhlouf Mohamed Nour Mohamed 《Annals of microbiology》2009,59(4):823-826
Community-acquired methicillin-resistantStaphylococcus aureus (CA-MRSA) strains, known as a nosocomial pathogen, have emerged in the community worldwide. CA-MRSA infects frequently young children and is implicated in skin and soft tissue infections. In the present study, we reported the isolation of CA-MRSA strains from elderly patients admitted to the dermatology department at University Hospital of Monastir. The relatedness of these isolates was investigated by PFGE typing which indicated that all strains were clonally related. MRSA strains were thoroughly characterized by molecular methods which revealed that all isolates possessed the unique sequence type ST80 as well as a single spa type t044. Whole genotypic results suggest that all isolates were PVL producing CA-MRSA and were closely related and belonging to the ST80 clone. 相似文献