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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ‐binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease.

Evolution of Rhizopus oryzae and Trichoderma reesei biomass in rice bran, their enzyme activity, and the profile of phenolic compounds released from the lignocellulosic matrices were determined and correlated by principal component analysis (PCA). PCA analysis confirms that cultivation of rice bran affected the release of methanol-soluble phenolic compounds (MSPC), ethanol-soluble phenolic compounds (ESPC), and bound phenolic compounds (BPC) positively, due to their enzymatic activity. The release of MSPC was influenced by the activity of cellulase and endoglucanase, which increased 110.6% and 136.3%, respectively, for Rhizopus oryzae and Trichoderma reesei. Gallic acid was the main component in the MSPC and ESPC compound fractions. Ferulic and syringic acids were found in its bound (BPC) form in the biomass. This study showed that bioactive compounds be released from lignocellulosic materials by fungus action and this process can be conducted to obtain specific phenolic compounds. PRACTICAL APPLICATION: Due the demand by natural compounds with biological activity, such as phenolic compounds, it is interesting to purpose alternatives to enhance their yield, like for instance, by fungal fermentation of lignocellulosic material. Therefore, understanding the relations among different phenolic compounds released and the production of fungal hydrolases during growth of Rhizopus oryzae and Trichoderma reesei in solid state cultivation using rice bran as a substrate is fundamental to control the process. This knowledge gets viable scale up to apply the phenolic compounds as preservative in food chain, because this becomes possible directing the process to obtain specific bioactive compounds in less time of cultivation and with low cost.

In this study the antifungal potential of a phenolic extract obtained from rice bran fermented with Rhizopus oryzae CECT 7560 and its application in the elaboration of bread was assessed.; Results: Eighteen compounds with antifungal potential were identified by LC-ESI-qTOF-MS in the extract: organic acids, gallates and gallotannins, flavonoids, ellagic acid and benzophenone derivatives. The extract was active against strains of Fusarium, Aspergillus and Penicillium, with minimum inhibitory concentration ranging from 390 to 3100 µg mL-1 and minimum fungicidal concentration variable from 780 to 6300 µg mL-1 . The strains that were most sensitive to the phenolic extract were F. graminearum, F. culmorum, F. poae, P. roqueforti, P. expansum and A. niger. The phenolic extract added at 5 and 1 g kg-1 concentrations in the preparation of bread loaves contaminated with P. expansum produced a reduction of 0.6 and 0.7 log CFU g-1 . The bread loaves treated with calcium propionate and 10 g kg-1 of the phenolic extract evidenced an improvement in their shelf lives of 3 days.; Conclusion: The phenolic extract assessed in this study could be considered as an alternative for inhibiting toxigenic fungi and as a substitute for synthetic compounds in food preservation. © 2018 Society of Chemical Industry.; © 2018 Society of Chemical Industry.

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.

Bisphosphonates have been the first-line treatment option for osteometabolic diseases, such as osteoporosis, hypercalcaemia in malignant bone diseases, and in bone metastasis. It is possible to observe a growing number of cases of osteonecrosis of the jaws in patients using this medication, called bisphosphonate-related osteonecrosis of the jaws. The purpose of this study was to report a conservative treatment for bisphosphonate-related osteonecrosis of the jaws--Stage 2, using antibacterial solution and low-level laser therapy. At the end of the treatment, the patient presented improvement of the lesion with the healing of the mucosa. The literature still lacks successful definite protocols, thus the present case may contribute with another option for conservative management for bisphosphonate-related osteonecrosis of the jaws. More research is necessary in order to develop a good protocol management for bisphosphonate-related osteonecrosis of the jaws.

Ciguatera fish poisoning (CFP) is an illness caused by eating tropical coral fish contaminated with ciguatoxins (CTXs). The clinical management of patients with CFP is generally supportive and symptomatic in nature as no antidote exists. Of the many drugs prescribed, several have been claimed to be efficient in small, uncontrolled studies, but the outcomes of treatments with these medicines are often contradictory. In New Caledonia, traditional remedies are commonly employed in the treatment of CFP and of the 90 plant species catalogued as useful in CFP, the most popular herbal remedy by far is a decoction prepared from the leaves of Heliotropium foertherianum Diane & Hilger (Boraginaceae). Other important plants used in the treatment of CFP include Euphorbia hirta L. (Euphorbiaceae) and Vitex L. sp. (Lamiaceae). This review focuses on the evidence for efficacy of these species and pharmacological studies which support their use. Other plants used in CFP and the conventional treatment of CFP are also discussed briefly.

Habitat fragmentation may disrupt original patterns of gene flow and lead to drift-induced differentiation among local population units. Top predators such as the jaguar may be particularly susceptible to this effect, given their low population densities, leading to small effective sizes in local fragments. On the other hand, the jaguar's high dispersal capabilities and relatively long generation time might counteract this process, slowing the effect of drift on local populations over the time frame of decades or centuries. In this study, we have addressed this issue by investigating the genetic structure of jaguars in a recently fragmented Atlantic Forest region, aiming to test whether loss of diversity and differentiation among local populations are detectable, and whether they can be attributed to the recent effect of drift. We used 13 microsatellite loci to characterize the genetic diversity present in four remnant populations, and observed marked differentiation among them, with evidence of recent allelic loss in local areas. Although some migrant and admixed individuals were identified, our results indicate that recent large-scale habitat removal and fragmentation among these areas has been sufficiently strong to promote differentiation induced by drift and loss of alleles at each site. Low estimated effective sizes supported the inference that genetic drift could have caused this effect within a short time frame. These results indicate that jaguars' ability to effectively disperse across the human-dominated landscapes that separate the fragments is currently very limited, and that each fragment contains a small, isolated population that is already suffering from the effects of genetic drift.

Since the second Indochina war, habitat destruction and overhunting has resulted in fragmentation of the remaining populations of Bos javanicus and B. gaurus. Nowadays, both species are in serious danger, especially the gaur. In Vietnam, where these species have become almost impossible to capture in the wild, noninvasive investigations are the only feasible approach to obtain data on populations. However, non-invasive derived DNA, especially in tropical areas, is usually characterized by low concentrations, poor quality and/or contamination from alien DNA. To assist in tropical conservation management, baseline information is provided here on assessing the reliability of species identification, molecular sexing and microsatellite genotyping using fecal DNA from B. gaurus and B. javanicus. For species identification using bovine fecal samples, cytochrome b fragment between positions 867 and 1140 was found to contain species diagnostic sites, which distinguishes the four species encountered in the region: B. gaurus, B. indicus, B. javanicus and B. taurus. For sex determination, primers were initially tested on DNA obtained from blood. Then, these primers were successfully used on DNA derived from fecal material. Finally, we also evaluate the feasibility of non-invasive microsatellite genotyping on fecal samples collected in Vietnamese nature reserves. The results presented here improve on current molecular methods based on fecal material obtained from tropical areas. (Resume d'auteur)

The diversity of symbiotic dinoflagellates from reef-building corals collected in the lagoon of Tahiti (South Pacific ocean) was investigated by using a molecular approach. Populations of symbionts (strains or species) of 7 coral species (Fungia scutaria, F. paumotensis Stutchbury, Pavona cactus Forskal, Leptastrea transversa Kluzinger, Pocillopora verrucosa Ellis and Solender, Montastrea curta Dana, and Acropora formosa Dana) were delimited by phylogenetic analysis of small subunit rDNA sequences. Coral P. verrucosa harbored 2 populations of symbiont SSU rDNA sequences that may correspond to two different Symbiodinium species. Corals F. scutaria and M. curta also seemed to contain two different Symbiodinium species. SSU rDNA dinoflagellate sequences from P. cactus, L. transversa, F. scutaria, F. paumotensis, and P. verrucosa were in the same phylogenetic cluster and showed low variability. For these distantly related coral species, dinoflagellate strains from the same species, rDNA paralogues from the same strain, or closely related Symbiodinium species could not be distinguished because monophyletic subgroups were not observed. SSU rDNA dinoflagellate sequences from A. formosa and M. curta were clearly different from the other Symbiodinium sequences and may represent specific species. This molecular approach highlighted a greater diversity of symbiotic dinoflagellates from corals in South Pacific (Symbiodinium groups A, B, and C) than that observed in the rest of the Pacific ocean (Symbiodinium group C). The diversity of symbiotic associations in a restricted area of the lagoon of Tahiti may reflect the complexity of interactions between species of Symbiodinium and corals.

The diversity of symbiotic dinoflagellates (SD) from seven coral species (Fungia scutaria, Fungiu paumotensis, Lep- tastrea fransvrrsu, Puvonu cuctus, Pocillopora verrucosa, Montustrea curtu, and Acropora formosa) was studied in a restricted geo- graphical area, the Lagoon of Arue on the island of Tahiti. Their diversity was explored by small subunit ribosomal RNA gene (SSU rDNA) restriction fragment length polymorphism (RFLP). After a nested amplification with SD specific primers, RFLP analyses were performed directly and after a cloning step. The diversity of these different SSU rDNA was estimated in respect to possible technical artifacts. In an axenic culture of SD from the coral Guluxea ,fa.rciculuris, both heterogeneous SSU rDNAs and artifact molecules were observed as in our SD samples. According to the number of patterns observed, corals Fungia paumotensis, Leptustreu transversn, Pavona cactus. Montastrea curta, and Acropora ,formom contained one class of SD SSU rDNAs, whereas Fungia scutariu and Pocil- lopora verrucosu contained three and two classes of SD SSU rDNAs respectively. In the limited geographic area studied, SD from different coral species shared the same pattern, except SD from Montustrea curta, which showed a unique pattern. In addition to the possibility of SD flux among different coral species, specific mechanisms could also be involved in the establishment of a symbiosis. Supplementary key words. Cloning, corals, flagellates, PCR artifacts, RFLP, SSU rDNA. N shallow tropical seas, dinoflagellates live as endosymbionts I in a wide range of tropical marine invertebrates. Their par- ticular association with scleractinian stony corals is the most important source of primary production in coral reef ecosystems (35). The first symbiotic dinoflagellate species described, Sym- biodinium microadriaticum Freudenthal emend. Trench and Blank, was isolated from Cassiopeia sp. Bigelow (Scyphozoa) (17). Many other marine invertebrate hosts were believed to harbor the same species (7). More recently, biochemical, phys- iological, morphological, and behavioral studies have revealed diversity in symbiotic dinoflagellate isolates from different hosts (6, 8, 15, 25, 26, 41, 42, 43, 571. Dinoflagellate species in symbiosis with scleractinian corals usually belong to the ge- nus Symbiodinium, and dinoflagellates in symbiosis with other marine invertebrates may belong to other genera, such as Am- phidinium Calparbde and Lachmann, Gloeodinium Klebs, or Scrippsiella Balech ex Loeblich 111 (2). Classical cultivation-based methods and also molecular bi- ology techniques may help resolve taxonomic issues in marine ecology ( 121, particularly concerning the study of symbiotic dinoflagellates (13, 19, 23, 34, 35, 36, 37, 38, 551. The small subunit ribosomal RNA (SSU rRNA) gene (SSU rDNA) is widely used for these purposes because of its universal occur- rence in all living organisms (l, 3, 4, 5, 18, 201. This gene is composed of a mosaic of variable regions alternating with rel- atively conserved, slowly evolving regions. Amplification of the gene is accomplished with primers specific to conserved portions of the sequence. The variability of the less conserved portions of the sequences can be explored using the restriction fragment length polymorphism (RFLP) method. This simple method, widely used to study bacterial communities, allows one to estimate the natural diversity of symbiotic dinoflagellates from environmental samples (34, 35, 36, 38, 44, 471. In the present work, symbiotic dinoflagellates (SD) were iso- lated from seven scleractinian coral species collected in the same location of the Tahiti lagoon (French Polynesia, South Pacific). Restriction profiles of SSU rDNA from SDs were ob- tained after nested-PCR amplification of SD DNA and after cloning the PCR product to determine diversity of SD SSU rDNA sequences present in one SD sample of a coral species.

A series of fluorine-containing 4,5-dihydro-1H-pyrazoles (III) are obtained in a efficient and green synthesis using microwave irradiation and solvent-free conditions.