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51.
Borowski P Niebuhr A Schmitz H Hosmane RS Bretner M Siwecka MA Kulikowski T 《Acta biochimica Polonica》2002,49(3):597-614
52.
Miazga A Felczak K Bretner M Siwecka MA Piasek A Kulikowski T 《Nucleosides, nucleotides & nucleic acids》2003,22(5-8):973-975
53.
MG Mullender NA Blom M De Kleuver JM Fock WMGC Hitters AMC Horemans CJ Kalkman JEH Pruijs RR Timmer PJ Titarsolej NC Van Haasteren Tol-de MJ Van Jager AJ Van Vught BJ Van Royen 《Scoliosis》2008,3(1):1-14
Background
Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a progressive scoliosis. A severe scoliosis compromises respiratory function and makes sitting more difficult. Spinal surgery is considered the primary treatment option for correcting severe scoliosis in neuromuscular disorders. Surgery in this population requires a multidisciplinary approach, careful planning, dedicated surgical procedures, and specialized after care.Methods
The guideline is based on scientific evidence and expert opinions. A multidisciplinary working group representing experts from all relevant specialties performed the research. A literature search was conducted to collect scientific evidence in answer to specific questions posed by the working group. Literature was classified according to the level of evidence.Results
For most aspects of the treatment scientific evidence is scarce and only low level cohort studies were found. Nevertheless, a high degree of consensus was reached about the management of patients with scoliosis in neuromuscular disorders. This was translated into a set of recommendations, which are now officially accepted as a general guideline in the Netherlands.Conclusion
In order to optimize the treatment for scoliosis in neuromuscular disorders a Dutch guideline has been composed. This evidence-based, multidisciplinary guideline addresses conservative treatment, the preoperative, perioperative, and postoperative care of scoliosis in neuromuscular disorders. 相似文献54.
WT Ismaya A Efthyani DS Retnoningrum X Lai BW Dijkstra RR Tjandrawinata 《Biotechnic & histochemistry》2017,92(6):411-416
The light subunit of mushroom, Agaricus bisporus, tyrosinase (LSMT), has been identified as an extrinsic component of the enzyme. Its function is unknown, but it can cross an epithelial cell layer, which suggests that it can be absorbed by the intestine. A similar capability has been demonstrated for the HA-33 component of the progenitor toxin from Clostridium botulinum, which is the closest structural homolog of LSMT. Unlike HA-33, LSMT appears to be non-immunogenic as shown by preliminary tests in Swiss Webster mice. We investigated the immunogenicity and histopathology of LSMT in mice to determine its safety in vivo. LSMT did not evoke generation of antibodies after prolonged periods of intraperitoneal administration. Histopathological observations confirmed the absence of responses in organs after twelve weekly administrations of LSMT. We found that LSMT is not toxic and is less immunogenic than the C. botulinum HA-33 protein, which supports further research and development for pharmaceutical application. 相似文献
55.
Rachel Sayuri Honjo Roberta Lelis Dutra Michele Moreira Nunes Israel Gomy Leslie Domenici Kulikowski Fernanda Sarquis Jehee Chong Ae Kim 《遗传学报》2012,39(10):571-574
Williams-Beuren syndrome (WBS) is a genetic disease characterized by distinct facial features,short stature,hypotonia,mental retardation,overfriendly and hyper-social behavior,congenital heart disease,infantile hypercalcemia,arterial hypertension and other variable clinical manifestations in organs and systems such as the kidneys,eyes,gastrointestinal and osteoarticular systems (Morris and Mervis,2000).This mental retardation syndrome occurs in 1/20,000 live births (Meyer-Lindenberg et al.,2006).It is caused by a 1.55-1.84 Mb microdeletion in 7q 11.23,a region containing approximately 28genes.Depending on the genes deleted,the phenotypes of WBS patients range from isolated supravalvular aortic stenosis (SVAS) to full expression of the WBS characteristics.Most cases are sporadic (Ewart et al.,1993;Perez Jurado et al.,1996). 相似文献
56.
Alice Grison Silvia Zucchelli Alice Urzì Ilaria Zamparo Dejan Lazarevic Giovanni Pascarella Paola Roncaglia Alejandro Giorgetti Paula Garcia-Esparcia Christina Vlachouli Roberto Simone Francesca Persichetti Alistair RR Forrest Yoshihide Hayashizaki Paolo Carloni Isidro Ferrer Claudia Lodovichi Charles Plessy the FANTOM Consortium Piero Carninci Stefano Gustincich 《BMC genomics》2014,15(1)
Background
The mesencephalic dopaminergic (mDA) cell system is composed of two major groups of projecting cells in the Substantia Nigra (SN) (A9 neurons) and the Ventral Tegmental Area (VTA) (A10 cells). Selective degeneration of A9 neurons occurs in Parkinson’s disease (PD) while abnormal function of A10 cells has been linked to schizophrenia, attention deficit and addiction. The molecular basis that underlies selective vulnerability of A9 and A10 neurons is presently unknown.Results
By taking advantage of transgenic labeling, laser capture microdissection coupled to nano Cap-Analysis of Gene Expression (nanoCAGE) technology on isolated A9 and A10 cells, we found that a subset of Olfactory Receptors (OR)s is expressed in mDA neurons. Gene expression analysis was integrated with the FANTOM5 Helicos CAGE sequencing datasets, showing the presence of these ORs in selected tissues and brain areas outside of the olfactory epithelium. OR expression in the mesencephalon was validated by RT-PCR and in situ hybridization. By screening 16 potential ligands on 5 mDA ORs recombinantly expressed in an heterologous in vitro system, we identified carvone enantiomers as agonists at Olfr287 and able to evoke an intracellular Ca2+ increase in solitary mDA neurons. ORs were found expressed in human SN and down-regulated in PD post mortem brains.Conclusions
Our study indicates that mDA neurons express ORs and respond to odor-like molecules providing new opportunities for pharmacological intervention in disease.Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-729) contains supplementary material, which is available to authorized users. 相似文献57.
Roberta Santos Guilherme Chong Ae Kim Luis Garcia Alonso Rachel S. Honjo Vera Ayres Meloni Denise Maria Christofolini Leslie Domenici Kulikowski Maria Isabel Melaragno 《Journal of applied genetics》2013,54(1):35-41
Ring chromosome 10—r(10)—is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome. 相似文献
58.
M. Bretner M. Balinska K. Krawiec B. Kierdaszuk D. Shugar T. Kulikowski 《Nucleosides, nucleotides & nucleic acids》2013,32(3-5):657-660
Abstract Two pathways are described for the synthesis of the 2′-deoxynucleosides of 2-thiocytosine and 5-fluoro-2-thiocytosine: (a) by nucleoside condensation, (b) by amination of the corresponding nucleosides of 2,4-dithiouracil. Biological activities vs two cell systems are described. The nucleosides are moderate to weak substrates of deoxycytidine kinase and, partly as a result of this, reasonable good inhibitors of the enzyme 相似文献
59.
Diana de la Iglesia Miguel García-Remesal Alberto Anguita Miguel Mu?oz-Mármol Casimir Kulikowski Víctor Maojo 《PloS one》2014,9(10)
Background
Clinical Trials (CTs) are essential for bridging the gap between experimental research on new drugs and their clinical application. Just like CTs for traditional drugs and biologics have helped accelerate the translation of biomedical findings into medical practice, CTs for nanodrugs and nanodevices could advance novel nanomaterials as agents for diagnosis and therapy. Although there is publicly available information about nanomedicine-related CTs, the online archiving of this information is carried out without adhering to criteria that discriminate between studies involving nanomaterials or nanotechnology-based processes (nano), and CTs that do not involve nanotechnology (non-nano). Finding out whether nanodrugs and nanodevices were involved in a study from CT summaries alone is a challenging task. At the time of writing, CTs archived in the well-known online registry ClinicalTrials.gov are not easily told apart as to whether they are nano or non-nano CTs—even when performed by domain experts, due to the lack of both a common definition for nanotechnology and of standards for reporting nanomedical experiments and results.Methods
We propose a supervised learning approach for classifying CT summaries from ClinicalTrials.gov according to whether they fall into the nano or the non-nano categories. Our method involves several stages: i) extraction and manual annotation of CTs as nano vs. non-nano, ii) pre-processing and automatic classification, and iii) performance evaluation using several state-of-the-art classifiers under different transformations of the original dataset.Results and Conclusions
The performance of the best automated classifier closely matches that of experts (AUC over 0.95), suggesting that it is feasible to automatically detect the presence of nanotechnology products in CT summaries with a high degree of accuracy. This can significantly speed up the process of finding whether reports on ClinicalTrials.gov might be relevant to a particular nanoparticle or nanodevice, which is essential to discover any precedents for nanotoxicity events or advantages for targeted drug therapy. 相似文献60.
Exotic sturgeons in the Vistula Lagoon in 2011, their occurrence,diet and parasites,with notes on the fishery background 下载免费PDF全文
M. E. Skóra E. Bogacka‐Kapusta J. Morzuch M. Kulikowski L. Rolbiecki K. Kozłowski A. Kapusta 《Zeitschrift fur angewandte Ichthyologie》2018,34(1):33-38
The Siberian sturgeon Acipenser baerii and the sterlet Acipenser ruthenus were recorded for the first time in the Vistula Lagoon in 2011. Among 66 sturgeons collected between April and December 2011, the Siberian sturgeon was the most numerous species (77%); however, a significant seasonal variability was observed, with sterlet dominating in the catches in late autumn of the same year. The stomach contents of the two species differed widely: Siberian sturgeon (14.9–42.2 cm standard length, SL) fed on crustaceans (Cercopagis pengoi, Oithona sp., Neomysis integer) (10.7% IRI), larvae and pupas of insects (Chaoborus sp., Chironomus sp., Polypedilum sp., Procladius sp., Culex sp.) (88.9% IRI) and fishes (Neogobius melanostomus, Osmerus eperlanus) (0.5% IRI), whereas sterlet (24.0–34.4 cm SL) consumed crustaceans (N. integer) (64.3% IRI), larvae of insects (Chironomus sp., Polypedilum sp.) (20.3% IRI) and fish (N. melanostomus) (15.4% IRI). Single Siberian sturgeon (4.3%) were found to harbour the parasitic nematode (Raphidascaris acus). 相似文献