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161.
Ana Maria Martins Kristin Lindstrom Sandra Obikawa Kyosen Maria Veronica Munoz-Rojas Nathan Thibault Lynda E. Polgreen 《BMC endocrine disorders》2018,18(1):83
Background
Mucopolysaccharidosis type I (MPS I) results in significant disease burden and early treatment is important for optimal outcomes. Recognition of short stature and growth failure as symptoms of MPS I among pediatric endocrinologists may lead to earlier diagnosis and treatment.Case presentation
A male patient first began experiencing hip pain at 5 years of age and was referred to an endocrinologist for short stature at age 7. Clinical history included recurrent respiratory infections, sleep apnea, moderate joint contractures, mild facial dysmorphic features, scoliosis, and umbilical hernia. Height was more than ??2 SD below the median at all time points. Growth velocity was below the 3rd percentile. Treatment for short stature included leuprolide acetate and recombinant human growth hormone. The patient was diagnosed with MPS I and began enzyme replacement therapy with laronidase at age 18.Conclusions
The case study patient had many symptoms of MPS I yet remained undiagnosed for 11 years after presenting with short stature. The appropriate path to MPS I diagnosis when patients present with short stature and/or growth failure plus one or more of the common signs of attenuated disease is described. Improved awareness regarding association of short stature and growth failure with attenuated MPS I is needed since early identification and treatment significantly decreases disease burden.162.
Domenico Sergi Fiona M. Campbell Christine Grant Amanda C. Morris Eva-Maria Bachmair Christiane Koch Fiona H. McLean Aifric Muller Nigel Hoggard Baukje de Roos Begona Porteiro Mark V. Boekschoten Fiona C. McGillicuddy Darcy Kahn Phyllis Nicol Jonas Benzler Claus-Dieter Mayer Janice E. Drew Helen M. Roche Michael Muller Ruben Nogueiras Carlos Dieguez Alexander Tups Lynda M. Williams 《Genes & nutrition》2018,13(1):28
163.
Confocal Raman spectroscopic imaging for in vitro monitoring of active ingredient penetration and distribution in reconstructed human epidermis model 下载免费PDF全文
Lynda Miloudi Franck Bonnier Ali Tfayli Florent Yvergnaux Hugh J. Byrne Igor Chourpa Emilie Munnier 《Journal of biophotonics》2018,11(4)
Topically applied active cosmetic ingredients (ACI) or active pharmaceutical ingredients (API) efficacy is directly related to their efficiency of penetration in the skin. In vitro reconstructed human epidermis surrogate models offer in vivo like skin samples for transdermal studies. Using Delipidol®, an ACI currently used in the cosmetics industry, the capabilities to deliver accurate distribution maps and penetration profiles of this molecule by means of confocal Raman spectroscopic imaging have been demonstrated. Using a non‐negative constrained least squares (NCLS) approach, contribution of specific molecules can be estimated at each point of spectral maps in order to deliver semi‐quantitative heat maps representing the ACI levels in the different skin layers. The concentration profiles obtained are approximately single exponential for all 3 time points evaluated, with a consistent decay constant, which is independent of the sublayer structure. Notably, however, there is no significant penetration into the lower basal layers until a critical concentration is built up, after 3 hours. Combination of Raman confocal imaging with spectral unmixing methods such as NCLS is demonstrated to be a relevant approach for in vitro biological evaluation of cosmetic and pharmaceutical active ingredients and could easily be implemented as a screening tool for industrial use. 相似文献
164.
The polymerase chain reaction (PCR) was used to amplify eubacterial small-subunit (16S) ribosomal DNA (rDNA) genes from galls of the marine red alga Prionitis lanceolata Harvey (Gigartinales). These tumors consist of hypertrophied algal cells containing large numbers of intercellular bacteria that remain uncultivable. PCR-amplified 16S rDNAs from surface-sterilized gall tissue plugs were cloned, sequenced, and analyzed by alignment to available small-subunit rRNA sequences (University of Illinois Ribosomal Database Project). Variable regions were identified and used to construct a fluorescently labeled, species-specific oligodeoxynucleotide probe for whole cell in situ hybridization to the gall symbiont. Probe 949 (PLANC.949) localized the P. lanceolata bacterial symbiont in preparations from mature gall tissue. This probe did not hybridize to the rDNA of closely related bacteria included as controls in the same hybridization reactions, In situ hybridization revealed the presence of the same bacterium in association with P. lanceolata gall formation from three central California localities. Distance and parsimony analyses suggest that this organism is a member of the Proteobacteria (alpha subdivision; Rhodobacter group) and is most closely related to Roseobacter denitrificans . 相似文献
165.
Polysiphonia paniculata Montagne is an intertidal red alga known to produce large amounts of the compound dimethylsulfoniopropionate (DMSP). Conversion of this substrate into dimethylsulfide is accomplished in P, paniculata by an enzyme called DMSP lyase (dimethylpropiothetin dethiomethyla.se (4.4.1.3)). DMSP lyase has been purified and characterized from P. paniculata. Enzymie activity is found in two different proteins: the larger with a molecular weight of 9.26 ± 104 daltons and the smaller with a molecular weight of 3.65 ± 104 daltons. Specific activity of the enzyme is 526 μmols min−1 mg−1 for the smaller protein a nd 263 μmols min −1 mg−1 for the la rger protein. The Michaelis-Menten constant (Km ) is 72.8 μM ± 17.15 and the vmax is 1.62 μmols min−1 ± 0.928 for the 92.6-kDa protein. The p1 of the larger protein is 5.8 and 5.9 for the smaller protein. Interaction with cysteine protease inhibitors L-trans-epoxysuccinyl-leucylamido (4-guanidino)-butane, dithiobis-(2-nitrobenzoate), or N -ethylmaleimide inactivated enzyme activity. The presence of either magnesium or calcium with DMSP lyase enhanced activity al concentrations between 20 and 40 μM but had little effect above these levels. Addition of the divalent chelators ethylenebis(oxyethylenenitrilo) tetraacetic acid and ethylenediaminetetraacetate decreased activity of the enzyme, but activity was restored when either chelator was removed and magnesium or calcium was added to the enzyme . 相似文献
166.
The Myxococcus xanthus asg genes ( asgA, asgB , and asgC ) are necessary for production of extracellular A-signal, which is thought to function as a cell-density signal. Previous analyses of the asgA and asgB genes suggest that they perform regulatory functions. In this work, we localized asgC to a region that contains genes homologous to rpsU, dnaG , and rpoD of the Escherichia coli macromolecular synthesis (MMS) operon. Surprisingly, asgC767 was found to be a mutant allele of rpoD , the gene encoding the major sigma factor of M. xanthus . The mutation in asgC767 results in a glutamate to lysine substitution at amino acid 598, which lies within conserved region 3.1 of the major sigma factors. Previous studies have shown that the asg mutants share a number of growth and developmental phenotypes. We found that A-signal restores developmental expression of an A-signal-dependent gene (Ω4521) in the asgC767 ( rpoDEK598 ) mutant background in a manner similar to that seen in the asgA and asgB mutants. Because the asg mutants have very similar phenotypes and the asg genes encode proteins that appear to have regulatory functions, we hypothesize that the asg gene products function together in a regulatory pathway that is required for extracellular A-signal production. 相似文献
167.
Odilia tasmaniensis n. sp.,O. praeputialis n. sp. andO. bainae Beveridge & Durette-Desset, 1992 from the small intestine of Australian murids are described and illustrated. The two new species are distinguished from the other eight species in the genus, namelyO. mackerrasae (Mawson, 1961),O. brachybursa (Mawson, 1961),O. emanuelae (Mawson, 1961),O. melomyos (Mawson, 1961),O. polyrhabdote (Mawson, 1961),O. uromyos (Mawson, 1961),O. mawsonae (Durette-Desset, 1969) andO. bainae Beveridge & Durette-Desset, 1992.O. tasmaniensis n. sp. fromRattus lutreolus is characterised by the longitudinal cuticular ridges being continuous, the presence of 18 ridges in cross-section in the middle region of the body, the joined distal ends of the spicules forming a curved bluntly rounded tip, a short genital cone with a single ventral papilla and a pair of laterally curving dorsal raylets and the posterior end of the female tapering sharply.O. praeputialis n. sp. fromZyzomys woodwardi is characterised by continuous longitudinal cuticular ridges, the presence of 22–35 ridges in cross-section in the middle of the body, the sharply pointed joined distal tips of the spicules, a complex genital cone with a flat membraneous proconus, a ventral papilla projecting from an extension of the body wall, a pair of short straight dorsal raylets and the presence of a praepuce on the posterior end of the female.O. bainae is characterised by the longitudinal cuticular ridges being continuous, the presence of 17–22 ridges in cross-section in the middle region of the body, the joined distal ends of the spicules surrounded in an oval transparent cap, a long genital cone with a single ventral papilla and a pair of laterally curving dorsal raylets, and the absence of a praepuce on the posterior end of the female.Rattus lutreolus and the pseudomyine rodentsPseudomys higginsi andMastacomys fuscus are new host records for this species. 相似文献
168.
Judith M. Bradow William J. Connick Jr. Armand B. Pepperman Lynda H. Wartelle 《Journal of Plant Growth Regulation》1990,9(1-4):35-41
At concentrations of 0.01–1 mM, five synthetic multiring analogs of strigol were effective germination stimulants of intact and dehulled wild oat (Avena fatua L.) seeds. The effect was concentration-dependent and equaled or exceeded that produced by equimolar gibberellic acid (GA3). The most effective strigol analog treatments induced 55–80% germination within 7 days in intact wild oat seeds and resulted in 63–86% germination and normal seedling growth over 14 days. Intact wild oat controls germinated 14% after 14 days. The stimulation of wild oat germination by these synthetic strigol analogs demonstrates that these compounds, initially developed as germination stimulants for the seeds of the parasitic weed, witchweed (Striga asiatica L. Kuntz.), have bioregulatory activity in dormant seeds of monocots, as well as dicots. None of the compounds tested significantly affected the germination of nondormant cultivated oat seeds (Avena sativa L.). The commonly used dispersal agent, Tween 20 (0.1%), was found to inhibit germination of cultivated oats, alone and in the presence of 2% acetone. 相似文献
169.
170.
Lynda F. Delph 《Oecologia》1986,69(3):471-476
Summary This study examines the pattern of reproduction and factors that limit the maternal reproductive output in the self-incompatible annual, Lesquerella gordonii. Greenhouse experiments showed that fruits do not abscise and they mature if they contain at least one fertilized (outcrossed) ovule. Field studies showed that flowering increased to a peak and then fell off rapidly, while seed production/fruit decreased through the season. Pollen addition did not increase the number of fruit or seeds per fruit, suggesting that fruit and seed production are not pollinator limited. Addition of water increased fruit and seed production by extending the life of the plant, by increasing the number of stalks which flowered, and by increasing the number of seeds per fruit. This indicates that fruit and seed production are resource limited. Fruits are relatively inexpensive as compared to seeds as over 93% of the water in fruits is contained in the seeds. Fifty-three percent of the plants were lost to herbivory as were 64.6% of the fruits on the remaining plants, indicating that herbivory also limited fruit and seed production. It is hypothesized that high fruit set coupled with variable seed set in L. gordonii is an adaptive response to unpredictable, variable resource levels, and high herbivory risk. 相似文献